Evaluating individual change with the Quality of Life in Neurological Disorders (Neuro-QoL) Short Forms

Publication date: Available online 29 December 2015
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Allan J. Kozlowski, David Cella, Kristian P. Nitsch, Allen W. Heinemann
ObjectiveTo provide a clinically useful means of interpreting change for individual patients on the Neurological Quality of Life (Neuro-QoL) adult short forms (SFs) by applying a Classical Test Theory concept for interpreting individual change.DesignSecondary analysis of existing data.SettingCommunity.ParticipantsPersons with neurological conditions including stroke, epilepsy, amyotrophic lateral sclerosis, multiple sclerosis, and Parkinson's disease residing in community settings. Interventions: Not applicable.Main Outcome MeasuresNeuro-QOL SFs for Applied Cognition-General Concerns, Applied Cognition-Executive Function, Applied Cognition-Combined, Ability to Participate in Social Roles and Activities, Satisfaction with Social Roles and Activities, Positive Affect and Well-Being, Depression, Stigma, Upper Extremity Function (Fine Motor, Activities of Daily Living), Lower Extremity Function (Mobility), Anxiety, Sleep Disturbance, Fatigue, and Emotional and Behavioral Dyscontrol.MethodsWe estimated conditional minimal detectable change (cMDC) indices from the pooled standard errors (SEs) adjusted for a 95% confidence interval (CI) using the average of the SEs for any given pair of scores multiplied by the z-score, or [(SEScore1 +SEScore2)/2 · 1.96].ResultsThe cMDC indices are generally smallest in the mid-range of all scales, ranging from 3.6 to 11.2 T-score points, and higher on the outer quartiles ranging from 3.7 to 21.6 T-score points. The lowest mid-range cMDCs were for Satisfaction with Social Roles and Activities (3.6-4.7 T-score points) and the largest was for Sleep Disturbance (9.4-11.2 T-score points).ConclusionsChange indices can help clinicians and investigators identify differences for individual patients or subjects that are large enough to motivate treatment change. cMDCs can reduce misclassification of magnitudes of change that are near the margins of error across the range of the Neuro-QoL SFs.



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Dimensionality and item-difficulty hierarchy of the lower-extremity Fugl-Meyer assessment in individuals with sub-acute and chronic stroke

Publication date: Available online 29 December 2015
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Chitralakshmi K. Balasubramanian, Chih-Ying Li, Mark G. Bowden, Pamela W. Duncan, Steven A. Kautz, Craig A. Velozo
ObjectiveTo investigate the dimensionality and item-difficulty hierarchy of the lower extremity section of the Fugl-Meyer assessment (FMA-LE).DesignSecondary analyses of data pooled from four existing datasets: a Phase III randomized controlled trial investigating the effectiveness of body weight support and a treadmill for rehabilitation of walking post-stroke and three cross-sectional studies investigating the link between impaired motor performance post-stroke and walking.SettingUniversity research centers and rehabilitation centers.ParticipantsA pooled sample of 535 individuals with a stroke (age = 61.91 ± 12.42 years; male = 313).InterventionsNot applicable.Main Outcome Measure(s)Confirmatory factor analyses (CFA) and Rasch residual Principal component analysis (PCA) investigated the dimensionality of the FMA-LE. The Rasch analysis rating scale model (RSM) investigated item-difficulty hierarchy of the FMA-LE.ResultsThe CFA showed adequate fit of a three-factor model with 2/3 indices (CFA = 0.95; TLI = 0.94; RMSEA = 0.124) showing good model fit. Rasch PCA showed that removal of the reflex and coordination items explained 90.8% of variance in the data, suggesting that the abnormal synergy items contributed to the measurement of a unidimensional construct. However, RSM results revealed deviations in the item-difficulty hierarchy of the unidimensional abnormal synergy items from the originally proposed stepwise sequence of motor recovery.Conclusion(s)Our findings suggest that the FMA-LE might represent a multidimensional construct challenging the use of a total score of the FMA-LE to predict lower extremity motor recovery. Removal of the misfit items resulted in creation of a unidimensional scale comprised of the abnormal synergy items. However, this unidimensional scale deviates from the originally proposed hierarchical ordering.



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Utility of ultrasound for imaging osteophytes in patients with insertional achilles tendinopathy

Publication date: Available online 29 December 2015
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Ruth L. Chimenti, Peter C. Chimenti, Mark R. Buckley, Jeff R. Houck, A. Samuel Flemister
ObjectiveTo examine 1) the validity of ultrasound imaging to measure osteophytes, and 2) the association between osteophytes and IAT.DesignCase-control studySettingAcademic medical centerParticipants20 persons with chronic unilateral IAT (Age: 58.7 ± 8.3 years, 50% female) and 20 age- and gender-matched controls (Age: 57.4 ± 9.8 years, 50% female) participated in this case-control study.InterventionNot applicable.Main Outcome MeasuresSymptoms severity was assessed using the Foot and Ankle Ability Measure (FAAM), Victorian Institute of Sport Assessment- Achilles questionnaire (VISA-A), and the Numerical Rating Scale (NRS). Length of osteophytes was measured bilaterally in both groups using ultrasound imaging and additionally on the symptomatic side of the IAT group using radiographs. The intraclass correlation coefficient was used to examine the agreement between ultrasound and radiograph measures. McNemar, Wilcoxon Signed Rank and Fisher's exact tests were used to compare the frequency and length of osteophytes between sides and groups. Pearson correlation was used to examine the association between osteophyte length and symptom severity.ResultsThere was good agreement (ICC ≥0.75) between ultrasound and radiograph osteophyte measures. There were no statistically significant differences (P>0.05) between sides or groups in the frequency of osteophytes. Osteophytes were larger on the symptomatic side of the IAT group compared to the asymptomatic side (P= 0.01) and controls (P=0.03). There were no associations between osteophyte length and symptom severity.ConclusionsUltrasound imaging is a valid measure of osteophyte length, which is associated with IAT. While a larger osteophyte indicates pathology, it does not indicate more severe IAT symptom severity.



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Risk Factors Associated with Ipsilateral Ischemic Events Following Carotid Endarterectomy (CEA) for Carotid Artery Stenosis.

Risk Factors Associated with Ipsilateral Ischemic Events Following Carotid Endarterectomy (CEA) for Carotid Artery Stenosis.

World Neurosurg. 2015 Dec 17;

Authors: Rong X, Yang W, Garzon-Muvdi T, Ye X, Caplan JM, Colby GP, Coon AL, Tamargo RJ, Huang J

Abstract
OBJECTIVE: Patients undergoing carotid endarterectomy (CEA) are at risk of developing ipsilateral stroke or transient ischemic attacks (TIA). In this study, we explored factors associated with development of these events following CEA in patients with long-term follow-up.
METHODS: We performed a retrospective analysis of all neurosurgical patients that underwent CEA and presented with ipsilateral ischemic stroke, TIA or amaurosis fugax. Factors were compared against the outcome variable in univariate analysis. Multivariate logistic regression model was utilized to identify independent predictive variables. We used Kaplan-Meier analysis (log-rank test) to compare the effect of variables on long-term event-free survival.
RESULTS: Our study included 270 patients with an average age of 67.2 years. Two hundred and forty-nine patients within our study cohort (92.2%) with 273 CEAs were followed at our institution. One hundred and eighty-seven (68.5%) patients were symptomatic at presentation. The average follow-up was 50.2 months (113.2 lesion-years). Event-free survival was 91.6% and 89.9% at 2 years and 5 years, respectively. Family history of stroke(p=0.002), cigarette smoking(p=0.021) and atrial fibrillation(p=0.005) significantly increased the risk of adverse events whereas symptomatic presentation demonstrated a trend towards significance(p=0.057). A higher risk for ischemic events was observed in female patients as compared to male with asymptomatic presentation(p=0.005).
CONCLUSIONS: Our data suggest that family history of stroke, cigarette smoking and atrial fibrillation are independent risk factors for developing ischemic events after CEA. In patients with asymptomatic presentation, female gender is also a risk factor. Identification of patients at risk is critical for tailored post-operative patient management and patient education.

PMID: 26709157 [PubMed - as supplied by publisher]

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Diagnostic Value of Somatosensory Evoked Potential Monitoring During Cerebral Aneurysm Clipping.

Diagnostic Value of Somatosensory Evoked Potential Monitoring During Cerebral Aneurysm Clipping.

World Neurosurg. 2015 Dec 17;

Authors: Thirumala PD, Udesh R, Muralidharan A, Thiagarajan K, Crammond DJ, Balzer JR, Chang YF

Abstract
BACKGROUND: Perioperative stroke is a known complication in patients undergoing surgical clipping of cerebral aneurysms.
OBJECTIVE: To evaluate whether intra-operative changes in somatosensory evoked potential (SSEP) monitoring during cerebral aneurysm clipping is diagnostic of perioperative stroke.
METHODS: An electronic search of PubMed, Embase and Web of Science databases was done for studies published through May 2015 on SSEP monitoring in cerebral aneurysm clipping for predicting post-operative outcomes. All titles and abstracts were independently screened based on predetermined criteria. Inclusion criteria included randomized clinical trials and prospective or retrospective cohort reviews; patients with intracranial aneurysms who underwent surgical clipping with intra-operative SSEP monitoring and postoperative neurological assessment; studies published in English on adult humans ≥ 18 years with sample size of ≥ 50; studies inclusive of an abstract with adequate details on outcomes.
RESULTS: A total of 14 articles with a sample population of 2015 patients were analyzed. SSEP monitoring demonstrated a strong mean specificity of 84.5% (95%CI-76.3-90.3) but weaker sensitivity of 56.8% (95%CI, 44.1-68.6) for predicting stroke. A diagnostic odds ratio of 7.772 (95% CI, 5.133-11.767) suggested that the odds of observing an SSEP change among those with a post-operative neurological deficit were 7 times higher than those without a neurological deficit.
CONCLUSION: Intra-operative SSEP monitoring is highly specific for predicting neurological outcome following cerebral aneurysm clipping. Patients with post-operative neurological deficits are 7 times more likely to have had intra-operative SSEP changes. SSEP monitoring may help design prevention strategies to reduce stroke rates following cerebral aneurysm clipping.

PMID: 26709156 [PubMed - as supplied by publisher]

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Epilepsy: A Disruptive Force in History.

Epilepsy: A Disruptive Force in History.

World Neurosurg. 2015 Dec 17;

Authors: Ali R, Connolly ID, Feroze AH, Awad AJ, Choudhri OA, Grant GA

Abstract
Since first described in a Mesopotamian text in 2000 BC, countless individuals have offered their perspectives on epilepsy's cause, treatment, and even deeper spiritual significance. However, despite the attention the disease has received through the millennia, it has only been within the past half-century that truly effective treatment options have been available. As a result, for the vast majority of recorded history, individuals with epilepsy have not only had to deal with the uncertainty of their next epileptic seizure but also the concomitant stigma and ostracization. Interestingly, these individuals have included several prominent historical figures, including Julius Caesar, Vladimir Lenin, and Fyodor Dostoyevsky among others. The fact that epilepsy has appeared in the lives of influential historical people means that the disease has played some role in affecting the progress of human civilization. Epilepsy has cut short the lives of key political leaders, affected the output of talented cultural icons, and, especially within the past half century, influenced the collective understanding of neuroscience and the human nervous system. In this article, the authors review how epilepsy throughout history has manifested itself in the lives of prominent figures and how the disease has helped shape the course of humanity's political, cultural, and scientific evolution.

PMID: 26709155 [PubMed - as supplied by publisher]

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Endoscopic Resection of Intraventricular Brain Tumors in Children.

Endoscopic Resection of Intraventricular Brain Tumors in Children.

World Neurosurg. 2015 Dec 17;

Authors: Sandberg DI

PMID: 26709154 [PubMed - as supplied by publisher]

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Deafferentation-based pathophysiological differences in phantom sound: Tinnitus with and without hearing loss.

Deafferentation-based pathophysiological differences in phantom sound: Tinnitus with and without hearing loss.

Neuroimage. 2015 Dec 18;

Authors: Vanneste S, De Ridder D

Abstract
Tinnitus has been considered an auditory phantom percept. Recently a theoretical multiphase compensation mechanism at a cortical level has been hypothesized linking auditory deafferentation to tinnitus. This Bayesian brain model predicts that two very different kinds of tinnitus should exist, depending on the amount of hearing loss: an auditory cortex related form of tinnitus not associated with hearing loss, and a (para)hippocampal form associated with hearing loss, in which the auditory cortex might be of little relevance. In order to verify this model, resting state source analyzed EEG recordings were made in 129 tinnitus patients, and correlated to the mean hearing loss, the range of the hearing loss and the hearing loss at the tinnitus frequency. Results demonstrate that tinnitus can be linked to 2 very different mechanisms. In patients with little or no hearing loss, the tinnitus seems to be more related to auditory cortex activity, but not to (para)hippocampal memory related activity, whereas in tinnitus patients with more severe hearing loss, tinnitus seems to be related to (para)hippocampal mechanisms. Furthermore hearing loss seems to drive the communication between the auditory cortex and the parahippocampus, as measured by functional and effective connectivity.

PMID: 26708013 [PubMed - as supplied by publisher]

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Resting Energy Expenditure is Decreased in Pseudohypoparathyroidism Type 1A.

Resting Energy Expenditure is Decreased in Pseudohypoparathyroidism Type 1A.

J Clin Endocrinol Metab. 2015 Dec 28;:jc20153895

Authors: Roizen JD, Danzig J, Groleau V, McCormack S, Casella A, Harrington J, Sochett E, Tershakovec A, Zemel BS, Stallings VA, Levine MA

Abstract
CONTEXT: Pseudohypoparathyroidism type 1A (PHP1A) is caused by loss-of function mutations on the maternally-inherited GNAS allele, and is associated with early-onset obesity, neurocognitive defects and resistance to multiple hormones. The role of energy intake versus central regulation of energy expenditure in the pathophysiology of obesity remains unclear.
OBJECTIVE: The aim of this study was to evaluate resting energy expenditure (REE) in participants with PHP1A.
DESIGN: We assessed REE, biochemical, endocrine and auxological status of 12 participants with PHP1A who had normal or elevated body mass index, and used as controls a cohort of 156 obese participants.
SETTING: The Children's Hospital in Philadelphia and Sick Children's Hospital in Toronto.
PATIENTS: We assessed REE, biochemical, endocrine and auxological status of 12 participants with PHP1A who had normal or elevated body mass index, and used as controls a cohort of 156 obese participants.
MAIN OUTCOME MEASURE(S): REE as a percent of predicted REE.
RESULTS: PHP1A participants had normal endocrine status while receiving appropriate hormone replacement therapy, but had significantly decreased REE as a percent of predicted REE (using the modified Schofield equation).
CONCLUSION: Our results are consistent with reduced energy expenditure being the principle cause of obesity in PHP1A rather than it being caused by excessive energy intake or endocrine dysfunction.

PMID: 26709970 [PubMed - as supplied by publisher]

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Lipidomics reveals associations of phospholipids with obesity and insulin resistance in young adults.

Lipidomics reveals associations of phospholipids with obesity and insulin resistance in young adults.

J Clin Endocrinol Metab. 2015 Dec 28;:jc20153525

Authors: Rauschert S, Uhl O, Koletzko B, Kirchberg F, Mori TA, Huang RC, Beilin LJ, Hellmuth C, Oddy WH

Abstract
CONTEXT: Obesity and related diseases have become a global public health burden. Identifying biomarkers will lead to a better understanding of the underlying mechanisms associated with obesity and the pathways leading to insulin resistance (IR) and diabetes.
OBJECTIVE: This study aimed to identify lipidomic biomarkers associated with obesity and IR using plasma samples from a population-based cohort of young adults.
DESIGN AND SETTING: The Western Australian Pregnancy Cohort (Raine) Study enrolled 2900 pregnant women from 1989 to 1991. The 20yr follow-up was conducted between March 2010 and April 2012.
PARTICIPANTS: and Samples: Plasma samples from 1176 subjects aged 20 years were analysed using mass spectrometry based metabolomics.
MAIN OUTCOME MEASURES: Associations of analytes with markers of obesity and IR including BMI, waist circumference (WC), homeostasis model assessment (HOMA-IR) and insulin, were examined. Analyses were stratified by BMI and adjusted for lifestyle and other factors.
RESULTS: WC was positively associated with seven sphingomyelins and five diacyl-phosphatidylcholines and negatively associated with two lyso-phosphatidylcholines. HOMA-IR was negatively associated with two diacyl-phosphatidylcholines and positively with one lyso-phosphatidylcholine and one diacyl-phosphatidylcholine. No significant association was found in the obese/overweight group of the HOMA-IR model. In the normal weight group, one lyso-phosphatidylcholine was increased.
CONCLUSION: A possible discriminative effect of sphingomyelins, particularly those with two double bonds, and lyso-phosphatidylcholines was identified between subjects with normal weight and obesity independent of LDL-C and HDL-C concentrations. Our results suggest weight status dependent mechanisms for the development of IR with lyso-phosphatidylcholine C14:0 as a key metabolite in non-obese IR.

PMID: 26709969 [PubMed - as supplied by publisher]

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PREDICTORS OF WHOLE-BODY INSULIN SENSITIVITY ACROSS AGES AND ADIPOSITY IN ADULT HUMANS.

PREDICTORS OF WHOLE-BODY INSULIN SENSITIVITY ACROSS AGES AND ADIPOSITY IN ADULT HUMANS.

J Clin Endocrinol Metab. 2015 Dec 28;:jc20152892

Authors: Lalia AZ, Dasari S, Johnson ML, Robinson MM, Konopka AR, Distelmaier K, Port JD, Glavin MT, Esponda RR, Nair KS, Lanza IR

Abstract
CONTEXT: Numerous factors are purported to influence insulin sensitivity including age, adiposity, mitochondrial function, and physical fitness. Univariate associations cannot address the complexity of insulin resistance syndrome or the interrelationship among potential determinants.
OBJECTIVE: To identify significant independent predictors of insulin sensitivity across a range of age and adiposity in humans.
DESIGN, SETTING AND PARTICIPANTS: Peripheral and hepatic insulin sensitivity were measured by two stage hyperinsulinemic-euglycemic clamps in 116 men and women (19-78 years). Insulin-stimulated glucose disposal (GIR), the suppression of endogenous glucose production during hyperinsulinemia (EGPSUP), and HOMA-IR were tested for associations with 11 potential predictors. Abdominal subcutaneous fat (AFSQ), visceral fat (AFVISC), intrahepatic lipid (IHL) and intramyocellular lipid (IMCL) were quantified by magnetic resonance imaging and spectroscopy. Skeletal muscle mitochondrial respiratory capacity (State 3), coupling efficiency (RCR) and reactive oxygen species production (ROS) were evaluated from muscle biopsies. Aerobic fitness was measured from whole-body maximum oxygen uptake (VO2 peak), and metabolic flexibility (ΔRQ) was determined using indirect calorimetry.
RESULTS: Multiple regression analysis revealed that AFVISC (p<0.0001) and IHL (p=0.002) were independent negative predictors of peripheral insulin sensitivity, while VO2 peak (p=0.0007) and IMCL (p=0.023) were positive predictors. Mitochondrial capacity and efficiency were not independent determinants of peripheral insulin sensitivity. The EGPSUP model of hepatic insulin sensitivity revealed % fat (p<0.0001) and AFVISC (p=0.001) as significant negative predictors. Modeling HOMA-IR identified AFVISC (p<0.0001), VO2 peak (p=0.001), and IMCL (p=0.01) as independent predictors.
CONCLUSION: The reduction in insulin sensitivity observed with aging is driven primarily by age-related changes in the content and distribution of adipose tissue and is independent of muscle mitochondrial function or chronological age.

PMID: 26709968 [PubMed - as supplied by publisher]

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Resting Energy Expenditure is Decreased in Pseudohypoparathyroidism Type 1A.

Resting Energy Expenditure is Decreased in Pseudohypoparathyroidism Type 1A.

J Clin Endocrinol Metab. 2015 Dec 28;:jc20153895

Authors: Roizen JD, Danzig J, Groleau V, McCormack S, Casella A, Harrington J, Sochett E, Tershakovec A, Zemel BS, Stallings VA, Levine MA

Abstract
CONTEXT: Pseudohypoparathyroidism type 1A (PHP1A) is caused by loss-of function mutations on the maternally-inherited GNAS allele, and is associated with early-onset obesity, neurocognitive defects and resistance to multiple hormones. The role of energy intake versus central regulation of energy expenditure in the pathophysiology of obesity remains unclear.
OBJECTIVE: The aim of this study was to evaluate resting energy expenditure (REE) in participants with PHP1A.
DESIGN: We assessed REE, biochemical, endocrine and auxological status of 12 participants with PHP1A who had normal or elevated body mass index, and used as controls a cohort of 156 obese participants.
SETTING: The Children's Hospital in Philadelphia and Sick Children's Hospital in Toronto.
PATIENTS: We assessed REE, biochemical, endocrine and auxological status of 12 participants with PHP1A who had normal or elevated body mass index, and used as controls a cohort of 156 obese participants.
MAIN OUTCOME MEASURE(S): REE as a percent of predicted REE.
RESULTS: PHP1A participants had normal endocrine status while receiving appropriate hormone replacement therapy, but had significantly decreased REE as a percent of predicted REE (using the modified Schofield equation).
CONCLUSION: Our results are consistent with reduced energy expenditure being the principle cause of obesity in PHP1A rather than it being caused by excessive energy intake or endocrine dysfunction.

PMID: 26709970 [PubMed - as supplied by publisher]

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Lipidomics reveals associations of phospholipids with obesity and insulin resistance in young adults.

Lipidomics reveals associations of phospholipids with obesity and insulin resistance in young adults.

J Clin Endocrinol Metab. 2015 Dec 28;:jc20153525

Authors: Rauschert S, Uhl O, Koletzko B, Kirchberg F, Mori TA, Huang RC, Beilin LJ, Hellmuth C, Oddy WH

Abstract
CONTEXT: Obesity and related diseases have become a global public health burden. Identifying biomarkers will lead to a better understanding of the underlying mechanisms associated with obesity and the pathways leading to insulin resistance (IR) and diabetes.
OBJECTIVE: This study aimed to identify lipidomic biomarkers associated with obesity and IR using plasma samples from a population-based cohort of young adults.
DESIGN AND SETTING: The Western Australian Pregnancy Cohort (Raine) Study enrolled 2900 pregnant women from 1989 to 1991. The 20yr follow-up was conducted between March 2010 and April 2012.
PARTICIPANTS: and Samples: Plasma samples from 1176 subjects aged 20 years were analysed using mass spectrometry based metabolomics.
MAIN OUTCOME MEASURES: Associations of analytes with markers of obesity and IR including BMI, waist circumference (WC), homeostasis model assessment (HOMA-IR) and insulin, were examined. Analyses were stratified by BMI and adjusted for lifestyle and other factors.
RESULTS: WC was positively associated with seven sphingomyelins and five diacyl-phosphatidylcholines and negatively associated with two lyso-phosphatidylcholines. HOMA-IR was negatively associated with two diacyl-phosphatidylcholines and positively with one lyso-phosphatidylcholine and one diacyl-phosphatidylcholine. No significant association was found in the obese/overweight group of the HOMA-IR model. In the normal weight group, one lyso-phosphatidylcholine was increased.
CONCLUSION: A possible discriminative effect of sphingomyelins, particularly those with two double bonds, and lyso-phosphatidylcholines was identified between subjects with normal weight and obesity independent of LDL-C and HDL-C concentrations. Our results suggest weight status dependent mechanisms for the development of IR with lyso-phosphatidylcholine C14:0 as a key metabolite in non-obese IR.

PMID: 26709969 [PubMed - as supplied by publisher]

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PREDICTORS OF WHOLE-BODY INSULIN SENSITIVITY ACROSS AGES AND ADIPOSITY IN ADULT HUMANS.

PREDICTORS OF WHOLE-BODY INSULIN SENSITIVITY ACROSS AGES AND ADIPOSITY IN ADULT HUMANS.

J Clin Endocrinol Metab. 2015 Dec 28;:jc20152892

Authors: Lalia AZ, Dasari S, Johnson ML, Robinson MM, Konopka AR, Distelmaier K, Port JD, Glavin MT, Esponda RR, Nair KS, Lanza IR

Abstract
CONTEXT: Numerous factors are purported to influence insulin sensitivity including age, adiposity, mitochondrial function, and physical fitness. Univariate associations cannot address the complexity of insulin resistance syndrome or the interrelationship among potential determinants.
OBJECTIVE: To identify significant independent predictors of insulin sensitivity across a range of age and adiposity in humans.
DESIGN, SETTING AND PARTICIPANTS: Peripheral and hepatic insulin sensitivity were measured by two stage hyperinsulinemic-euglycemic clamps in 116 men and women (19-78 years). Insulin-stimulated glucose disposal (GIR), the suppression of endogenous glucose production during hyperinsulinemia (EGPSUP), and HOMA-IR were tested for associations with 11 potential predictors. Abdominal subcutaneous fat (AFSQ), visceral fat (AFVISC), intrahepatic lipid (IHL) and intramyocellular lipid (IMCL) were quantified by magnetic resonance imaging and spectroscopy. Skeletal muscle mitochondrial respiratory capacity (State 3), coupling efficiency (RCR) and reactive oxygen species production (ROS) were evaluated from muscle biopsies. Aerobic fitness was measured from whole-body maximum oxygen uptake (VO2 peak), and metabolic flexibility (ΔRQ) was determined using indirect calorimetry.
RESULTS: Multiple regression analysis revealed that AFVISC (p<0.0001) and IHL (p=0.002) were independent negative predictors of peripheral insulin sensitivity, while VO2 peak (p=0.0007) and IMCL (p=0.023) were positive predictors. Mitochondrial capacity and efficiency were not independent determinants of peripheral insulin sensitivity. The EGPSUP model of hepatic insulin sensitivity revealed % fat (p<0.0001) and AFVISC (p=0.001) as significant negative predictors. Modeling HOMA-IR identified AFVISC (p<0.0001), VO2 peak (p=0.001), and IMCL (p=0.01) as independent predictors.
CONCLUSION: The reduction in insulin sensitivity observed with aging is driven primarily by age-related changes in the content and distribution of adipose tissue and is independent of muscle mitochondrial function or chronological age.

PMID: 26709968 [PubMed - as supplied by publisher]

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Vestibular evoked myogenic potential testing for the diagnosis of conductive hearing loss: survey of pediatric otolaryngologists' knowledge and beliefs.

Related Articles

Vestibular evoked myogenic potential testing for the diagnosis of conductive hearing loss: survey of pediatric otolaryngologists' knowledge and beliefs.

Int J Pediatr Otorhinolaryngol. 2014 Nov;78(11):1937-9

Authors: Dargie JM, Zhou G, Dornan BK, Whittemore KR

Abstract
OBJECTIVES: To assess physicians' knowledge and beliefs regarding vestibular evoked myogenic potential (VEMP) testing in children.
METHODS: A survey was delivered via email in html format to 1069 members of the American Academy of Otolaryngology--Head and Neck Surgery who identified as pediatric otolaryngologists. Study data were collected and managed using the Research Electronic Data Capture (REDCap) tools.
RESULTS: 443 (41.4%) physicians opened the email. 190 (42.9% of opens) initiated the survey, of which 117 (61.9%) fully completed the survey of the physicians who responded to a question regarding knowledge of VEMP, 16% of respondents had never heard of the test. 16% of participants would use it in the setting of diagnosing pediatric conductive hearing loss. Responses regarding the youngest age at which VEMP is possible ranged from younger than 6 months through greater than 13 years of age. Beliefs regarding utility and reliability of VEMP varied, with 'unsure' as the most frequent response. Additionally, only 26% of pediatric otolaryngologists indicated some access to the test.
CONCLUSION: The knowledge and availability of VEMP testing in the pediatric otolaryngology community varies widely.

PMID: 25245257 [PubMed - indexed for MEDLINE]

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Peripheral facial palsy, the only presentation of a primitive neuroectodermal tumor of the skull base.

Peripheral facial palsy, the only presentation of a primitive neuroectodermal tumor of the skull base.

Int J Surg Case Rep. 2015 Dec 17;19:47-50

Authors: Kim HJ, Kang B, Joo EY, Kim EY, Kwon YS

Abstract
INTRODUCTION: Peripheral facial palsy is rarely caused by primary neoplasms, which are mostly constituted of tumors of the central nervous system, head and neck, and leukemia.
PRESENTATION OF CASE: A 2-month-old male infant presented with asymmetric facial expression for 3 weeks. Physical examination revealed suspicious findings of right peripheral facial palsy. Computed tomography of the temporal bone revealed a suspicious bone tumor centered in the right petrous bone involving surrounding bones with extension into the middle ear cavity and inner ear. Subtotal resection of the tumor was performed due to crucial structures adjacent the mass. Histopathology and immunohistochemistry of the resected tumor was consistent with primitive neuroectodermal tumor.
CONCLUSION: We report a rare case of a primitive neuroectodermal tumor located at the skull base presenting with only peripheral facial palsy.

PMID: 26710328 [PubMed - as supplied by publisher]

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Intracranial Facial Nerve Grafting in the Setting of Skull Base Tumors: Global and Regional Facial Function Analysis and Possible Implications for Facial Reanimation Surgery.

Intracranial Facial Nerve Grafting in the Setting of Skull Base Tumors: Global and Regional Facial Function Analysis and Possible Implications for Facial Reanimation Surgery.

Plast Reconstr Surg. 2016 Jan;137(1):267-278

Authors: Rozen SM, Harrison BL, Isaacson B, Kutz JW, Roland PS, Blau PA, Barnett SL, Mickey BE

Abstract
BACKGROUND: Reconstructive surgeons may encounter patients presenting after intracranial facial nerve resection and grafting in the setting of skull base tumors, who inquire regarding progression, final facial function, and need for future operations. Study goals were to analyze global and regional facial function using established grading systems and videography, while examine variables possibly affecting outcomes.
METHODS: Between 1997 and 2012, 28 patients underwent intracranial nerve grafting. Fifteen were prospectively evaluated by three facial nerve physical therapists with the Facial Nerve Grading System 2.0 and the Sunnybrook Facial Grading Score for function and the Facial Disability Index for quality of life. Still photographs and videography were used to assess quality of motion and tone, while demographic and medical variables were analyzed regarding their effect on end results.
RESULTS: Average patient age was 41.9 years (range, 22 to 66 years), and there were 10 women and five men. Average time interval between nerve grafting and evaluations was 42.9 months (range, 12 to 146 months). Both grading scores demonstrated best outcomes in the periorbita and worst outcomes in the brow. Buccinator muscle tone also improved. The average total Facial Disability Index was 67.5 percent. Although not statistically significant, the data suggest that nerve gap length affected total resting symmetry and voluntary movement, whereas preoperative palsy and age may affect total resting symmetry. Perioperative radiation therapy, tumor type, donor nerve, and coaptation technique were not found to affect outcomes.
CONCLUSIONS: Intracranial facial nerve grafting largely provides better resting tone and facial symmetry, potentially improving end results of future intervention; however, overall voluntary facial motion is poor.
CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

PMID: 26710031 [PubMed - as supplied by publisher]

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Congenital abnormalities of the posterior fossa.

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Congenital abnormalities of the posterior fossa.

Radiographics. 2015 Jan-Feb;35(1):200-20

Authors: Bosemani T, Orman G, Boltshauser E, Tekes A, Huisman TA, Poretti A

Abstract
The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence.

PMID: 25590398 [PubMed - indexed for MEDLINE]

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Animal models of chronic tympanic membrane perforation: a 'time-out' to review evidence and standardize design.

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Animal models of chronic tympanic membrane perforation: a 'time-out' to review evidence and standardize design.

Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2048-55

Authors: Wang AY, Shen Y, Wang JT, Friedland PL, Atlas MD, Dilley RJ

Abstract
OBJECTIVE: To review the literature on techniques for creation of chronic tympanic membrane perforations (TMP) in animal models. Establishing such models in a laboratory setting will have value if they replicate many of the properties of the human clinical condition and can thus be used for investigation of novel grafting materials or other interventions.
METHODS: A literature search of the PubMed database (1950-August 2014) was performed. The search included all English-language literature published attempts on chronic or delayed TMP in animal models. Studies of non English-language or acute TMP were excluded.
RESULTS: Thirty-seven studies were identified. Various methods to create TMP in animals have been used including infolding technique, thermal injury, re-myringotomy, and topical agents including chemicals and growth factor receptor inhibitors. The most common type of animal utilized was chinchilla, followed by rat and guinea pig. Twenty three of the 37 studies reported success in achieving chronic TMP animal model while 14 studies solely delayed the healing of TMP. Numerous experimental limitations were identified including TMP patency duration of <8 weeks, lack of documentation of total number of animals attempted and absence of proof for chronicity with otoscopic and histologic evidence.
CONCLUSION: The existing literature demonstrates the need for an ideal chronic TMP animal model to allow the development of new treatments and evaluate the risk of their clinical application. Various identified techniques seem promising, however, a need was identified for standardization of experimental design and evidence to address multiple limitations.

PMID: 25455522 [PubMed - indexed for MEDLINE]

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Protective function of Pirfenidone and Everolimus on the development of chronic allograft rejection after experimental lung transplantation.

Protective function of Pirfenidone and Everolimus on the development of chronic allograft rejection after experimental lung transplantation.

Histol Histopathol. 2015 Dec 28;:11712

Authors: von Suesskind-Schwendi M, Heigel E, Pfaehler S, Hanneya A, Schmid C, Hirt SW, Lehle K

Abstract
Long-term survival of lung allografts is limited by chronic rejection (CR). Oxidative stress (OxS) plays a central role in the development of CR. We investigated the influence of pirfenidone (alone or in combination with everolimus) on OxS and CR. A rat model of left lung allo-transplantation (F344-to-WKY) was used to evaluate the effects of pirfenidone alone [0,85% in chow from postoperative day (POD) -3 to 20/60] and in combination with everolimus [2,5 mg/kg bw daily from POD 7 to 20/60]. Allografts of non-treated animals, everolimus treated animals and right, non-transplanted lungs were used as references. Immunohistology of myeloperoxidase (MPO), haemoxygenase-1 (HO-1), iron and platelet-derived-growth-factor-receptor-alpha (PDGFR-a) were performed. On POD 20, all groups showed severe acute rejection (ISHLT A3-4/B1R-B2R). Groups treated with pirfenidone showed a lower interstitial inflammatory infiltration and a lower participation of highly fibrotic degenerated vessels (ISHLT-D2R). In the long term follow up (POD 60), pirfenidone alone significantly reduced chronic airway rejection (ISHLT-C; p<=0.05), interstitial fibrosis (IF; p<=0.05), content of collagen (p<=0.05), expression of PDGFR-a (p<=0.05) and the deposition of iron (p<=0.05). All groups treated with pirfenidone showed a high expression of the cytoprotective enzyme HO-1 (p<=0.05). The additional application of everolimus resulted in a significant decrease of chronic airway rejection (ISHLT-C; p<=0.05), vasculopathy (ISHLT; p<=0.05) and IF (p<=0.05). In conclusion, early application of pirfenidone inhibited the progression of CR by its anti-fibrotic and anti-oxidative properties. The additional application of an m-TOR-inhibitor increased the anti-fibrotic effects of pirfenidone which resulted in a reduction of CR after experimental LTx.

PMID: 26707547 [PubMed - as supplied by publisher]

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Synchronous bifocal metastatic involvement of pituitary and pineal glands unmasking small cell lung cancer.

Synchronous bifocal metastatic involvement of pituitary and pineal glands unmasking small cell lung cancer.

Clin Neuropathol. 2015 Dec 28;

Authors: Little EW, Kazmi KS, Queenan JV, Katsetos CD

PMID: 26709714 [PubMed - as supplied by publisher]

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Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.

Clin Neuropathol. 2015 Dec 28;

Authors: San Millan B, Fernandez JM, Navarro C, Reparaz A, Teijeira S

Abstract
BACKGROUND: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a clinically and genetically distinct and uncommon variant of SMA that results from irreversible degeneration of α-motor neurons in the anterior horns of the spinal cord and in ganglion cells on the spinal root ganglia.
AIMS: To describe the clinical, electrophysiological, neuropathological, and genetic findings, at different stages from birth to death, of a Spanish child diagnosed with SMARD1.
PATIENT AND METHODS: We report the case of a 3-monthold girl with severe respiratory insufficiency and, later, intense hypotonia. Paraclinical tests included biochemistry, chest X-ray, and electrophysiological studies, among others. Muscle and nerve biopsies were performed at 5 and 10 months and studied under light and electron microscopy. Post-mortem examination and genetic investigations were performed.
RESULTS: Pre- and post-mortem histopathological findings demonstrated the disease progression over time. Muscle biopsy at 5 months of age was normal, however a marked neurogenic atrophy was present in post-mortem samples. Peripheral motor and sensory nerves were severely involved likely due to a primary axonal disorder. Automatic sequencing of IGHMBP2 revealed a compound heterozygous mutation.
CONCLUSIONS: The diagnosis of SMARD1 should be considered in children with early respiratory insufficiency or in cases of atypical SMA. Direct sequencing of the IGHMBP2 gene should be performed.

PMID: 26709713 [PubMed - as supplied by publisher]

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Tumors displaying hybrid schwannoma and neurofibroma features in patients with neurofibromatosis type 2.

Tumors displaying hybrid schwannoma and neurofibroma features in patients with neurofibromatosis type 2.

Clin Neuropathol. 2015 Dec 28;

Authors: Montgomery BK, Alimchandani M, Mehta GU, Dewan R, Nesvick CL, Miettinen M, Heiss JD, Asthagiri AR, Quezado M, Germanwala AV

Abstract
Although schwannoma and neurofibroma tumors are generally reported as distinct pathologic diagnoses, sporadic schwannoma/neurofibroma hybrid nerve sheath tumors have been reported in the general population with components of both entities. We report the clinicopathological features of these hybrid nerve sheath tumors in patients with neurofibromatosis type 2 (NF2). A retrospective review of nerve sheath tumor surgical specimens from patients with NF2 enrolled at the National Institutes of Health was performed. Those specimens reported to have schwannoma-like and neurofibromalike features were selected for further characterization by morphology, immunohistochemical panel (CD34, S100, neurofilament triplet protein (immunostain) (NFTP), epithelial membrane antigen (EMA)), and confirmation as hybrid tumors. Of 43 total NF2 patients undergoing resection of nerve sheath tumors, 11 specimens from 11 (26%) patients were found to be benign nerve sheath tumors exhibiting hybrid features of both neurofibroma and schwannoma. Immunohistochemical studies showed the schwannoma component to be S100+, CD 34- while the neurofibroma component was CD34+, variable S100+. Our experience emphasizes the importance of including this distinct tumor subtype, the schwannoma/neurofibroma hybrid tumor, in the differential diagnosis of nerve sheath tumors in NF2 patients and suggests that the relationship between neurofibroma and schwannoma tumors is closer than previously suspected.

PMID: 26709712 [PubMed - as supplied by publisher]

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Tryptophan-2,3-dioxygenase is regulated by prostaglandin E2 in malignant glioma via a positive signaling loop involving prostaglandin E receptor-4.

Tryptophan-2,3-dioxygenase is regulated by prostaglandin E2 in malignant glioma via a positive signaling loop involving prostaglandin E receptor-4.

J Neurochem. 2015 Dec 27;

Authors: Ochs K, Ott M, Rauschenbach KJ, Deumelandt K, Sahm F, Opitz CA, von Deimling A, Wick W, Platten M

Abstract
Malignant gliomas and other types of tumors generate a local immunosuppressive microenvironment, which prohibits an effective anti-tumor immune response and promotes tumor growth. Along with others, we have recently demonstrated that catabolism of the essential amino acid tryptophan via tryptophan-2,3-dioxygenase (TDO) is an important mechanism mediating tumor-associated immunosuppression particularly in gliomas. The pathways regulating TDO in tumors, however, are poorly understood. Here we show that prostaglandins enhance TDO expression and enzymatic activity in malignant gliomas via activation of prostaglandin E receptor-4 (EP4). Stimulation with prostaglandin E2 (PGE2 ) up-regulated TDO-mediated kynurenine release in human glioma cell lines while knockdown of the PGE2 receptor EP4 inhibited TDO expression and activity. In human malignant glioma tissue expression of the PGE2 -producing enzyme cyclooxygenase-2 (COX2) and its receptor EP4 were associated with TDO expression both on transcript and protein level. High expression of EP4 correlated with poor survival in malignant glioma patients WHO III-IV. Importantly, treatment of glioma cells with an EP4 inhibitor decreased TDO expression and activity. Moreover, TDO-over-expressing murine gliomas showed increased COX2 and EP4 expression suggesting a positive feedback mechanism in vivo. In summary, targeting EP4 may inhibit - in addition to immunosuppressive COX2 signaling - tryptophan degradation as another important immunosuppressive pathway and thus, could provide a dual clinically relevant immunotherapeutic avenue for the treatment of malignant gliomas. This article is protected by copyright. All rights reserved.

PMID: 26708701 [PubMed - as supplied by publisher]

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Network analyses reveal novel aspects of ALS pathogenesis.

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Network analyses reveal novel aspects of ALS pathogenesis.

PLoS Genet. 2015 Mar;11(3):e1005107

Authors: Sanhueza M, Chai A, Smith C, McCray BA, Simpson TI, Taylor JP, Pennetta G

Abstract
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease characterized by selective loss of motor neurons, muscle atrophy and paralysis. Mutations in the human VAMP-associated protein B (hVAPB) cause a heterogeneous group of motor neuron diseases including ALS8. Despite extensive research, the molecular mechanisms underlying ALS pathogenesis remain largely unknown. Genetic screens for key interactors of hVAPB activity in the intact nervous system, however, represent a fundamental approach towards understanding the in vivo function of hVAPB and its role in ALS pathogenesis. Targeted expression of the disease-causing allele leads to neurodegeneration and progressive decline in motor performance when expressed in the adult Drosophila, eye or in its entire nervous system, respectively. By using these two phenotypic readouts, we carried out a systematic survey of the Drosophila genome to identify modifiers of hVAPB-induced neurotoxicity. Modifiers cluster in a diverse array of biological functions including processes and genes that have been previously linked to hVAPB function, such as proteolysis and vesicular trafficking. In addition to established mechanisms, the screen identified endocytic trafficking and genes controlling proliferation and apoptosis as potent modifiers of ALS8-mediated defects. Surprisingly, the list of modifiers was mostly enriched for proteins linked to lipid droplet biogenesis and dynamics. Computational analysis reveals that most modifiers can be linked into a complex network of interacting genes, and that the human genes homologous to the Drosophila modifiers can be assembled into an interacting network largely overlapping with that in flies. Identity markers of the endocytic process were also found to abnormally accumulate in ALS patients, further supporting the relevance of the fly data for human biology. Collectively, these results not only lead to a better understanding of hVAPB function but also point to potentially relevant targets for therapeutic intervention.

PMID: 25826266 [PubMed - indexed for MEDLINE]

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Primary central nervous system angiosarcoma: a case report and literature review.

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Primary central nervous system angiosarcoma: a case report and literature review.

Neuropathology. 2015 Apr;35(2):184-91

Authors: La Corte E, Acerbi F, Schiariti M, Broggi M, Maderna E, Pollo B, Nunziata R, Maccagnano E, Ferroli P

Abstract
Angiosarcoma is a rare vascular malignant neoplasm that mainly occurs in skin and soft tissues. Intracranial localization is very rare and only a few cases have been reported. This report intends to present the clinical, radiological and pathological pictures of a primary central nervous system angiosarcoma along with a review of the literature. A 35-year-old woman presented at our institution with weakness and sensory disturbances of her right hand. Neuroimaging revealed a roughly round, hemorrhagic and moderately enhancing lesion in the left frontal posterior region. The tumor was totally removed under awake anesthesia and continuous monitoring of motor and language functions. Histopathology revealed an epithelioid angiosarcoma. Radical removal, followed by adjuvant radiotherapy and chemotherapy, is able to completely control the disease for a relatively long period.

PMID: 25388456 [PubMed - indexed for MEDLINE]

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CNS intravascular large cell lymphoma in a patient with autoimmune hemolytic anemia.

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CNS intravascular large cell lymphoma in a patient with autoimmune hemolytic anemia.

Neuropathology. 2015 Apr;35(2):170-4

Authors: Alexandrescu S, Orengo JP, Toossi S, Perry A, Treseler P, Hess C, Margeta M

Abstract
Intravascular large cell lymphoma (IVLCL) is a rare disease characterized by proliferation of malignant lymphocytes within the small blood vessel lumens. The association of IVLCL with autoimmune hemolytic anemia (AIHA) has been described in a single case report, but the true prevalence of this co-occurrence is not known because of declining autopsy rates. Here, we report a case of a 41-year-old woman who carried a diagnosis of AIHA for 2 years, with repeated hemolytic episodes that were initially well controlled with immunomodulatory treatment. At her last presentation, the patient developed rapidly progressive neurologic symptoms and leukoencephalopathy on MRI; she died 4 weeks later with a clinical impression of thrombotic microangiopathy, a known complication of AIHA. At autopsy, the brain showed widespread platelet thrombi and intraparenchymal hemorrhages characteristic of this disorder. In addition, there was evidence of a clinically unsuspected IVLCL, most likely of B-cell lineage. This case illustrates a potential association between IVLCL and AIHA, highlights the need for broad differential diagnosis in cases with atypical disease presentation or progression, and underlines the importance of autopsy in establishing the full cause of morbidity and mortality.

PMID: 25378202 [PubMed - indexed for MEDLINE]

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Two cases of atypical meningioma with pulmonary metastases: a comparative cytogenetic analysis of chromosomes 1p and 22 and a review of the literature.

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Two cases of atypical meningioma with pulmonary metastases: a comparative cytogenetic analysis of chromosomes 1p and 22 and a review of the literature.

Neuropathology. 2015 Apr;35(2):175-83

Authors: Frydrychowicz C, Holland H, Hantmann H, Gradistanac T, Hoffmann KT, Mueller W, Meixensberger J, Krupp W

Abstract
We present two cases of atypical meningioma WHO grade II with a history of multiple local recurrences and late pulmonary metastases. Comparative cytogenetic analyses on 1p and 22q confirmed clonal origin of the primary intracranial meningiomas and the pulmonary metastases in both cases. These cases illustrate the importance of close neuroradiological follow-up to detect tumor recurrence in patients with atypical meningiomas WHO grade II even with clinically stable disease and should sensitize clinicians to late extracranial metastases of these tumors, especially to the lung. In an effort to elucidate common clinical features of metastatic meningiomas, especially to the lung, the literature was reviewed from 1995 to 2014, identifying a total of 45 published cases.

PMID: 25376227 [PubMed - indexed for MEDLINE]

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An unexpected finding in the resection specimen of a carcinoma of the oral cavity: A case report.

An unexpected finding in the resection specimen of a carcinoma of the oral cavity: A case report.

Int J Surg Case Rep. 2015 Dec 17;19:55-59

Authors: Olthof DC, Bun RJ, Dutrieux RP, Houdijk AP

Abstract
INTRODUCTION: The occurrence of two synchronous, primary cancers is rare. Thyroid carcinoma is incidentally found in the resection specimen after surgery for head and neck cancer in 0.3-1.9% of the patients.
PRESENTATION OF CASE: In this report, we describe the case of a 72-year-old patient in whom a primary (synchronous) papillary thyroid carcinoma was found coincidentally upon pathologic examination of lymph nodes recovered from the cervical neck lymph node dissection specimen after a 'commando' procedure for carcinoma of the oral cavity.
DISCUSSION AND CONCLUSION: There is no gold standard concerning treatment of the incidentally discovered thyroid gland carcinoma. The decision to perform surgery depends on the life expectancy of the patient, whether the thyroid gland demonstrates clinical or radiologic lesions, the already completed treatment for the head and neck cancer and should always be adjusted to the specific patient.

PMID: 26710330 [PubMed - as supplied by publisher]

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Boerhaave's syndrome in a patient with an upside down stomach: A case report.

Boerhaave's syndrome in a patient with an upside down stomach: A case report.

Int J Surg Case Rep. 2015 Dec 17;19:51-54

Authors: Saito S, Hosoya Y, Kurashina K, Matsumoto S, Kanamaru R, Ui T, Haruta H, Kitayama J, Lefor AK, Sata N

Abstract
INTRODUCTION: Spontaneous esophageal perforation, or Boerhaave's syndrome, is a life-threating condition which usually requires emergent surgery. An upside down stomach is defined as a gastric volvulus in a huge supradiaphragmatic sac. In general, this condition can result in ischemia and perforation of the stomach. This is the first report of a patient with Boerhaave's syndrome and an upside down stomach.
CASE PRESENTATION: A 79-year-old woman presented with sudden epigastric pain following hematemesis. Evaluation of the patient showed both an esophageal perforation and an upside down stomach. Surgical drainage and irrigation of the mediastinum and pleural cavities were undertaken emergently. Due to the concurrent gastric volvulus, a gastrostomy was placed to fix and decompress the stomach. The patient had an uneventful hospital course and was discharged.
DISCUSSION AND CONCLUSION: Boerhaave's syndrome is a rare but severe complication caused by excessive vomiting, due to a sudden elevation in intraluminal esophageal pressure resulting in esophageal perforation. Acute gastric volvulus can result in ischemia and perforation of the stomach, but has not previously been reported with esophageal perforation. The most likely mechanism associating an upside down stomach with Boerhaave's syndrome is acute gastric outlet obstruction resulting in vomiting, and subsequent esophageal perforation. Perforation of the esophagus as well as perforation of the stomach must be considered in patients with an upside down stomach although both upside down stomach and Boerhaave's syndrome are rare clinical entities.

PMID: 26710329 [PubMed - as supplied by publisher]

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Peripheral facial palsy, the only presentation of a primitive neuroectodermal tumor of the skull base.

Peripheral facial palsy, the only presentation of a primitive neuroectodermal tumor of the skull base.

Int J Surg Case Rep. 2015 Dec 17;19:47-50

Authors: Kim HJ, Kang B, Joo EY, Kim EY, Kwon YS

Abstract
INTRODUCTION: Peripheral facial palsy is rarely caused by primary neoplasms, which are mostly constituted of tumors of the central nervous system, head and neck, and leukemia.
PRESENTATION OF CASE: A 2-month-old male infant presented with asymmetric facial expression for 3 weeks. Physical examination revealed suspicious findings of right peripheral facial palsy. Computed tomography of the temporal bone revealed a suspicious bone tumor centered in the right petrous bone involving surrounding bones with extension into the middle ear cavity and inner ear. Subtotal resection of the tumor was performed due to crucial structures adjacent the mass. Histopathology and immunohistochemistry of the resected tumor was consistent with primitive neuroectodermal tumor.
CONCLUSION: We report a rare case of a primitive neuroectodermal tumor located at the skull base presenting with only peripheral facial palsy.

PMID: 26710328 [PubMed - as supplied by publisher]

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Single-site multiport combined splenectomy and cholecystectomy with conventional laparoscopic instruments: Case series and review of literature.

Single-site multiport combined splenectomy and cholecystectomy with conventional laparoscopic instruments: Case series and review of literature.

Int J Surg Case Rep. 2015 Dec 17;19:41-46

Authors: Ozemir IA, Bayraktar B, Bayraktar O, Tosun S, Bilgic C, Demiral G, Ozturk E, Yigitbasi R, Alimoglu O

Abstract
INTRODUCTION: Conventional laparoscopic procedures have been used for splenic diseases and concomitant gallbladder stones, frequently in patients with hereditary spherocytosis since 1990's. The aim of this study is to evaluate the feasibility of single-site surgery with conventional instruments in combined procedures.
PRESENTATION OF CASE SERIES: Six consecutive patients who scheduled for combined cholecystectomy and splenectomy because of hereditary spherocytosis or autoimmune hemolytic anemia were included this study. Both procedures were performed via trans-umbilical single-site multiport approach using conventional instruments. All procedures completed successfully without conversion to open surgery or conventional laparoscopic surgery. An additional trocar was required for only one patient. The mean operation time was 190min (150-275min). The mean blood loss was 185ml (70-300ml). Median postoperative hospital stay was two days. No perioperative mortality or major complications occurred in our series. Recurrent anemia, hernia formation or wound infection was not observed during the follow-up period.
DISCUSSION: Nowadays, publications are arising about laparoscopic or single site surgery for combined diseases. Surgery for combined diseases has some difficulties owing to the placement of organs and position of the patient during laparoscopic surgery. Single site laparoscopic surgery has been proposed to have better cosmetic outcome, less postoperative pain, greater patient satisfaction and faster recovery compared to standard laparoscopy.
CONCLUSION: We consider that single-site multiport laparoscopic approach for combined splenectomy and cholecystectomy is a safe and feasible technique, after gaining enough experience on single site surgery.

PMID: 26708949 [PubMed - as supplied by publisher]

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Transanal evisceration of the small bowel a rare complication of rectal prolapse.

Transanal evisceration of the small bowel a rare complication of rectal prolapse.

Int J Surg Case Rep. 2015 Dec 14;19:38-40

Authors: Kornaropoulos M, Makris MC, Yettimis E, Zevlas A

Abstract
INTRODUCTION: Transanal evisceration of small bowel is an extremely rare surgical emergency. Of the nearly 70 cases reported in the literature, rectal prolapse is the predisposing factor that has been most frequently related to this pathology.
PRESENTATION OF CASE: We report a 78-year-old female with history of chronic rectal prolapse who presented in our emergency department with evisceration of small intestinal loops through the anus. In surgery after complete reduction of the eviscerated bowel into the peritoneal cavity, almost 20cm of the terminal ileum up to the ileocecal valve were necrotic and therefore a right hemicolectomy with primary anastomosis was performed. Additionally a 2cm craniocaudally tear was revealed in the antimesenteric border of the upper rectum and a Hartman procedure was also performed. The patient was discharged after 10 days.
DISCUSSION: Early recognition and timely surgical intervention offers the best prognosis, avoiding a fatal conclusion or an extensive intestinal resection.

PMID: 26708948 [PubMed - as supplied by publisher]

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More on 'No Gut Syndrome': A case report.

More on 'No Gut Syndrome': A case report.

Int J Surg Case Rep. 2015 Dec 17;19:35-37

Authors: Jain V, Huerta S

Abstract
INTRODUCTION: No Gut Syndrome refers to a condition which results after a near total enterectomy (NTE) has been performed. These patients are unable to sustain life without life-long parenteral nutrition (PN). Re-establishment of bowel continuity, complications, quality of life (QoL), and overall outcomes are important aspects to be considered in patients who might need a NTE. We have previously reported two similar cases as well as a literature review in patients with No Gut Syndrome. In the present report, we present an additional case and an update of the literature.
PRESENTATION OF THE CASE: A 62-year old man with multiple co-morbidities presented with features of acute small bowel obstruction. Exploratory laparotomy revealed severe mesenteric ischemia and extensive small bowel necrosis. Patient eventually underwent a NTE and was discharged on parenteral nutrition.
DISCUSSION: Near total enterectomy (NTE) is a clinical condition in which a patient is left without or with minimal length of small bowel along with either gastrointestinal continuity or exteriorization of the proximal end. This condition has remained a dilemma for surgeons worldwide chiefly as a result of its perceived incompatibility with life. There are only a few available options for proceeding with treatment, however maintenance on long term parenteral nutrition has shown promising results.
CONCLUSION: Long term parenteral nutrition serves as a viable treatment option for managing patients after a NTE.

PMID: 26708947 [PubMed - as supplied by publisher]

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Stable fixation of a madreporic Lord femoral prosthesis at 31-year follow-up in a total hip arthroplasty: A case report.

Stable fixation of a madreporic Lord femoral prosthesis at 31-year follow-up in a total hip arthroplasty: A case report.

Int J Surg Case Rep. 2015 Dec 14;19:31-34

Authors: Judas FM, Ferreira JF, Dias RF, Lucas FM

Abstract
INTRODUCTION: Lord total hip prosthesis was discontinued due to high revision rates of the smooth threaded acetabular component and negative effects of stress shielding in the proximal femur.
PRESENTATION OF CASE: We report the outcome of a Lord cementless femoral stem, in a 55-year-old woman. In 1984, the patient underwent a Lord total hip arthroplasty for the treatment of advanced dysplastic osteoarthritis of the left hip. After 12 years, the cementless acetabular component of the prosthesis had been revised due to aseptic loosening. An acetabular metallic support ring and a cemented polyethylene cup were implanted, the femoral stem was not changed. The acetabular bone loss was reconstructed with morsellised cancellous bone allografts by the impacting technique. No complications were reported during the period of 19 years of the postoperative course. At the last clinical and radiological evaluations, the patient presented an asymptomatic hip and expressed high degree of satisfaction with the surgery result. The femoral stem was stable, with no measurable subsidence or radiolucent lines around the stem.
DISCUSSION: Several reports have presented a high clinical success rate with the fully-porous-coated Lord femoral stem in both primary and revision cases. However, the long-term results showed a substantial rate of proximal femoral bone loss and thigh pain.
CONCLUSION: In our case, the Lord stem showed an excellent long-term result at the 31-year follow-up. To our knowledge, there is no published report with results of the Lord stem longer than 26-year's follow-up.

PMID: 26708946 [PubMed - as supplied by publisher]

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Trans-femoral thromboaspiration for upper extremity ischemia.

Trans-femoral thromboaspiration for upper extremity ischemia.

Int J Surg Case Rep. 2015 Dec 14;19:25-30

Authors: Gordhan A

Abstract
INTRODUCTION: Endovascular trans-femoral access catheter aspiration of thrombus within the proximal subclavian, brachial, radial and ulnar arteries for symptomatic upper extremity ischemic pain has not been previously reported. We describe a case in which a successful clinical outcome was achieved using long length neuro-endovascular aspiration catheters.
PRESENTATION OF CASE: A 45 year old female presented with diffuse left upper limb pain. Sonography revealed compromised upper extremity blood flow. Thrombus was identified in the proximal left subclavian artery by CT angiography. Surgical retrograde brachial artery access thrombectomy was performed. Occlusion of the left vertebral artery with embolic infarcts of the cerebellar hemispheres was noted post-procedurally. Trans-femoral mechanical aspiration thrombectomy and angioplasty of the subclavian, brachial, ulnar and radial arteries was subsequently performed with successful recanalization.
CONCLUSION: Recanalization of vasculature to the upper arm through safer femoral access can be achieved with thrombo-aspiration catheters of sufficient length.

PMID: 26708945 [PubMed - as supplied by publisher]

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Primary retroperitoneal Merkel cell carcinoma: Case report and literature review.

Primary retroperitoneal Merkel cell carcinoma: Case report and literature review.

Int J Surg Case Rep. 2015 Dec 10;19:21-24

Authors: Quiroz-Sandoval OA, Cuellar-Hubbe M, Lino-Silva LS, Salcedo-Hernández RA, López-Basave HN, Padilla-Rosciano AE, León-Takahashi AM, Herrera-Gómez Á

Abstract
BACKGROUND: Merkel cell carcinoma (MCC) is an aggressive cutaneous neuroendocrine carcinoma that affects elderly patients and typically arises in sun-exposed skin. The disease is very rare and only few cases present with no apparent skin lesion. In the retroperitoneum there are only two cases reported in the literature.
CASE PRESENTATION: We report a case of a 54-year-old Mexican male with MCC, which presented as a large retroperitoneal mass. Pathological and immunohistochemical analysis of the transabdominal CT-guided biopsy specimen revealed a MCC. The patient underwent preoperative chemotherapy followed by a laparotomy and the mass was successfully excised.
DISCUSSION: There are two possible explanations for what occurred in our patient. The most plausible theory is the retroperitoneal mass could be a massively enlarged lymph node where precursor cells became neoplastic. This would be consistent with a presumptive diagnosis of primary nodal disease. Moreover, metastasis to the retroperitoneal lymph nodes has been reported as relatively common when compared to other sites such as liver, bone, brain and skin. The less probable theory is the non-described "regression" phenomena of a cutaneous MCC, but we are not found a primary skin lesion.
CONCLUSION: Preoperative chemotherapy and excision of the primary tumor is the surgical treatment of choice for retroperitoneal MCC. We propose that further studies are needed to elucidate the true efficacy of chemotherapy in conventional and unconventional patients with MCC.

PMID: 26708276 [PubMed - as supplied by publisher]

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Intramuscular innervations of lower leg skeletal muscles: applications in their clinical use in functional muscular transfer.

Intramuscular innervations of lower leg skeletal muscles: applications in their clinical use in functional muscular transfer.

Surg Radiol Anat. 2015 Dec 26;

Authors: Yu D, Yin H, Han T, Jiang H, Cao X

Abstract
PURPOSE: This study aims to investigate nerve distribution patterns of human lower leg skeletal muscles using a modified Sihler's staining method.
METHODS: Sixteen lower leg from eight fresh adult cadavers were used in this study and all the skeletal muscles were dissected. The muscle specimens were classified according to Lim's classification. The specimens were then stained by further modified Sihler's staining technique. Data were analyzed according to research results.
RESULTS: After the staining, we found four patterns of nerve distribution in human lower leg muscles: (1) Type 1: single nerve pattern in which the nerve branches into two either running parallel to each other or radiating in a spray pattern (such as the extensor digitorum longus, extensor hallucis longus, fibularis brevis and flexor hallucis longus). (2) Type 2: double nerve pattern, one being proximal and the other being distal (such as the extensor digitorum longus, flexor digitorum longus, flexor hallucis longus). (3) Type 3: multiple branch pattern (such as the tibialis anterior, fibularis longus, gastrocnemius, soleus, tibialis anterior and popliteus).
CONCLUSION: Our modified Sihler's staining method is useful for research of large muscles and intramuscular nerves in human. These findings might provide guidance for clinicians for muscle reconstruction surgery.

PMID: 26707590 [PubMed - as supplied by publisher]

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Transgenic Drosophila model to study apolipoprotein E4-induced neurodegeneration

Publication date: 15 March 2016
Source:Behavioural Brain Research, Volume 301
Author(s): Mohammad Haddadi, Upendra Nongthomba, Samaneh Reiszadeh Jahromi, SR Ramesh
The ε4 isoform of apolipoprotein E (ApoE4) that is involved in neuron-glial lipid metabolism has been demonstrated as the main genetic risk factor in late-onset of Alzheimer's disease. However, the mechanism underlying ApoE4-mediated neurodegeneration remains unclear. We created a transgenic model of neurodegenerative disorder by expressing ε3 and ε4 isoforms of human ApoE in the Drosophila melanogaster. The genetic models exhibited progressive neurodegeneration, shortened lifespan and memory impairment. Genetic interaction studies between amyloid precursor protein and ApoE in axon pathology of the disease revealed that over expression of hApoE in Appl-expressing neurons of Drosophila brain causes neurodegeneration. Moreover, acute oxidative damage in the hApoE transgenic flies triggered a neuroprotective response of hApoE3 while chronic induction of oxidative damage accelerated the rate of neurodegeneration. This Drosophila model may facilitate analysis of the molecular and cellular events implicated in hApoE4 neurotoxicity.



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Aerobic exercise enhances neural correlates of motor skill learning

Publication date: 15 March 2016
Source:Behavioural Brain Research, Volume 301
Author(s): Amaya M. Singh, Jason L. Neva, W. Richard Staines
IntroductionRepetitive, in-phase bimanual motor training tasks can expand the excitable cortical area of the trained muscles. Recent evidence suggests that an acute bout of moderate-intensity aerobic exercise can enhance the induction of rapid motor plasticity at the motor hotspot. However, these changes have not been investigated throughout the entire cortical representation. Furthermore, it is unclear how exercise-induced changes in excitability may relate to motor performance. We investigated whether aerobic exercise could enhance the neural correlates of motor learning. We hypothesized that the combination of exercise and training would increase the excitable cortical area to a greater extent than either exercise or training alone, and that the addition of exercise would enhance performance on a motor training task.Methods25 young, healthy, right-handed individuals were recruited and divided into two groups and three experimental conditions. The exercise group performed exercise alone (EX) and exercise followed by training (EXTR) while the training group performed training alone (TR).ResultsThe combination of exercise and training increased excitability within the cortical map of the trained muscle to a greater extent than training alone. However, there was no difference in performance between the two groups. These results indicate that exercise may enhance the cortical adaptations to motor skill learning.



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Planning of spatially-oriented locomotion following focal brain damage in humans: A pilot study

Publication date: 15 March 2016
Source:Behavioural Brain Research, Volume 301
Author(s): Halim Hicheur, Carole Boujon, Cuebong Wong, Quang-Cuong Pham, Jean-Marie Annoni, Titus Bihl
Motor impairments in human gait following stroke or focal brain damage are well documented. Here, we investigated whether stroke and/or focal brain damage also affect the navigational component of spatially oriented locomotion. Ten healthy adult participants and ten adult brain-damaged patients had to walk towards distant targets from different starting positions (with vision or blindfolded). No instructions as to which the path to follow were provided to them. We observed very similar geometrical forms of paths across the two groups of participants and across visual conditions. This spatial stereotypy of whole-body displacements was observed following brain damage, even in the most severely impaired (hemiparetic) patients. This contrasted with much more variability at the temporal level. In particular, healthy participants and non-hemiparetic patients varied their walking speed according to curvature changes along the path. On the contrary, the walking speed profiles were not stereotypical and were not systematically constrained by path geometry in hemiparetic patients where it was associated with different stepping behaviors. These observations confirm the dissociation between cognitive and motor aspects of gait recovery post-stroke. The impact of these findings on the understanding of the functional and anatomical organization of spatially-oriented locomotion and for rehabilitation purposes is discussed and contextualized in the light of recent advances in electrophysiological studies.



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Decreased synaptic plasticity in the medial prefrontal cortex underlies short-term memory deficits in 6-OHDA-lesioned rats

Publication date: 15 March 2016
Source:Behavioural Brain Research, Volume 301
Author(s): Filipe C. Matheus, Daniel Rial, Joana I. Real, Cristina Lemos, Juliana Ben, Gisele O. Guaita, Inês R. Pita, Ana C. Sequeira, Frederico C. Pereira, Roger Walz, Reinaldo N. Takahashi, Leandro J. Bertoglio, Cláudio Da Cunha, Rodrigo A. Cunha, Rui D. Prediger
Parkinson's disease (PD) is characterized by motor dysfunction associated with dopaminergic degeneration in the dorsolateral striatum (DLS). However, motor symptoms in PD are often preceded by short-term memory deficits, which have been argued to involve deregulation of medial prefrontal cortex (mPFC). We now used a 6-hydroxydopamine (6-OHDA) rat PD model to explore if alterations of synaptic plasticity in DLS and mPFC underlie short-term memory impairments in PD prodrome. The bilateral injection of 6-OHDA (20μg/hemisphere) in the DLS caused a marked loss of dopaminergic neurons in the substantia nigra (>80%) and decreased monoamine levels in the striatum and PFC, accompanied by motor deficits evaluated after 21 days in the open field and accelerated rotarod. A lower dose of 6-OHDA (10μg/hemisphere) only induced a partial degeneration (about 60%) of dopaminergic neurons in the substantia nigra with no gross motor impairments, thus mimicking an early premotor stage of PD. Notably, 6-OHDA (10μg)—lesioned rats displayed decreased monoamine levels in the PFC as well as short-term memory deficits evaluated in the novel object discrimination and in the modified Y-maze tasks; this was accompanied by a selective decrease in the amplitude of long-term potentiation in the mPFC, but not in DLS, without changes of synaptic transmission in either brain regions. These results indicate that the short-term memory dysfunction predating the motor alterations in the 6-OHDA model of PD is associated with selective changes of information processing in PFC circuits, typified by persistent changes of synaptic plasticity.



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Sulforaphane produces antidepressant- and anxiolytic-like effects in adult mice

Publication date: 15 March 2016
Source:Behavioural Brain Research, Volume 301
Author(s): Shuhui Wu, Qiang Gao, Pei Zhao, Yuan Gao, Yanjie Xi, Xiaoting Wang, Ying Liang, Haishui Shi, Yuxia Ma
Increasing evidence suggests that depression is accompanied by dysregulation of neuroimmune system. Sulforaphane (SFN) is a natural compound with antioxidative, anti-inflammatory and neuroprotective activities. The present study aims to investigate the effects of SFN on depressive- and anxiety-like behaviors as well as potential neuroimmune mechanisms in mice. Repeated SFN administration (10mg/kg, i.p.) significantly decreased the immobility time in the forced swimming test (FST), tail suspension test (TST), and latency time to feeding in the novelty suppressed feeding test (NSF), and increased the time in the central zone in the open field test (OPT). Using the chronic mild stress (CMS) paradigm, we confirmed that repeated SFN (10mg/kg, i.p.) administration significantly increased sucrose preference in the sucrose preference test (SPT), and immobility time in the FST and TST of mice subjected to CMS. Also, SFN treatment significantly reversed anxiety-like behaviors (assessed by the OPT and NSF) of chronically stressed mice. Finally, ELISA analysis showed that SFN administration blocked the increase in the serum levels of corticosterone (CORT), adrenocorticotropic hormone (ACTH), interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α) in chronically stressed mice. In summary, these findings demonstrated that SFN has antidepressant- and anxiolytic-like activities in stressed mice model of depression, which likely occurs by inhibiting the hypothalamic-pituitary-adrenal (HPA) axis and inflammatory response to stress. These data support further exploration for developing SFN as a novel agent to treat depression and anxiety disorders.



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Prolonged metformin treatment leads to reduced transcription of Nrf2 and neurotrophic factors without cognitive impairment in older C57BL/6J mice

Publication date: 15 March 2016
Source:Behavioural Brain Research, Volume 301
Author(s): Joanne S. Allard, Evelyn J. Perez, Koji Fukui, Priscilla Carpenter, Donald K. Ingram, Rafael de Cabo
Long-term use of anti-diabetic agents has become commonplace as rates of obesity, metabolic syndrome and diabetes continue to escalate. Metformin, a commonly used anti-diabetic drug, has been shown to have many beneficial effects outside of its therapeutic regulation of glucose metabolism and insulin sensitivity. Studies on metformin's effects on the central nervous system are limited and predominantly consist of in vitro studies and a few in vivo studies with short-term treatment in relatively young animals; some provide support for metformin as a neuroprotective agent while others show evidence that metformin may be deleterious to neuronal survival. In this study, we examined the effect of long-term metformin treatment on brain neurotrophins and cognition in aged male C57Bl/6 mice. Mice were fed control (C), high-fat (HF) or a high-fat diet supplemented with metformin (HFM) for 6 months. Metformin decreased body fat composition and attenuated declines in motor function induced by a HF diet. Performance in the Morris water maze test of hippocampal based memory function, showed that metformin prevented impairment of spatial reference memory associated with the HF diet. Quantitative RT-PCR on brain homogenates revealed decreased transcription of BDNF, NGF and NTF3; however protein levels were not altered. Metformin treatment also decreased expression of the antioxidant pathway regulator, Nrf2. The decrease in transcription of neurotrophic factors and Nrf2 with chronic metformin intake, cautions of the possibility that extended metformin use may alter brain biochemistry in a manner that creates a vulnerable brain environment and warrants further investigation.



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Assessments of cognitive abilities in a mouse model of Parkinson’s disease with a touch screen test

Publication date: 15 March 2016
Source:Behavioural Brain Research, Volume 301
Author(s): Chuljung Kwak, Chae-Seok Lim, Bong-Kiun Kaang
Patients with Parkinson's disease (PD) experience both motor output deficits and cognitive disabilities. Various PD rodent models have been developed to investigate the genetic and brain circuit-related causes of PD and have contributed to the basic and clinical research and to therapeutic strategies for this disease. Most studies using PD rodent models have focused on the motor output deficits, rather than cognitive disabilities due to the lack of appropriate testing tools that do not require significant motor abilities. In this study, we assessed the cognitive disabilities of PD model mice using a touch screen test that required only little motor ability. We found that the PD model mice, which had motor deficits caused by unilateral striatal dopaminergic degeneration, successfully underwent operant conditioning with a touch screen test. Additionally, we found that the PD model mice demonstrated impaired location discrimination, but intact attention and reversal learning in the cognitive tests. Therefore, the touch screen test is useful for assessing hidden cognitive disabilities in disease model animals with decreased motor function.



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Placebo effects induced by auditory cues decrease parkinsonian rigidity in patients with subthalamic stimulation

Publication date: 15 March 2016
Source:Behavioural Brain Research, Volume 301
Author(s): Tõnu Rätsep, Toomas Asser
Placebo effects are the consequence of an interaction between an organism and its surroundings and may be influenced by cues from the environment. Our study was designed to analyze if conditioned auditory cues could trigger placebo effects and affect parkinsonian rigidity as measured by viscoelastic properties of skeletal muscles in patients treated with subthalamic stimulation. We found that after repeatedly associating with the effect of deep brain stimulation on rigidity, a common dial phone signal itself was able to reduce the mean values of viscoelastic stiffness in the placebo stage (368.8±50.4Nm⁻¹) as compared to the stimulation-off conditions (383.7±61.2Nm⁻¹) (q=4.18; p<0.05) in ten patients with Parkinson's disease. Thus, it appears that due to associative learning processes environmental cues can acquire the capacity to trigger placebo effects affecting the clinical status of the patients.



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Rice phytochrome-interacting factor protein OsPIF14 represses OsDREB1B gene expression through an extended N-box and interacts preferentially with the active form of Phytochrome B

Publication date: Available online 28 December 2015
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): André M. Cordeiro, Duarte D. Figueiredo, James Tepperman, Ana Rita Borba, Tiago Lourenço, Isabel A. Abreu, Pieter B.F. Ouwerkerk, Peter H. Quail, M. Margarida Oliveira, Nelson J.M. Saibo
DREB1/CBF genes, known as major regulators of plant stress responses, are rapidly and transiently induced by low temperatures. Using a Yeast one Hybrid screening, we identified a putative Phytochrome-Interacting bHLH Factor (OsPIF14), as binding to the OsDREB1B promoter. bHLH proteins are able to bind to hexameric E-box (CANNTG) or N-box (CACG(A/C)G) motifs, depending on transcriptional activity. We have shown that OsPIF14 binds to the OsDREB1B promoter through two N-boxes and that the flanking regions of the hexameric core are essential for protein-DNA interaction and stability. We also showed that OsPIF14 down-regulates OsDREB1B gene expression in rice protoplasts, corroborating the OsPIF14 repressor activity observed in the transactivation assays using Arabidopsis protoplasts. In addition, we showed that OsPIF14 is indeed a Phytochrome Interacting Factor, which preferentially binds to the active form (Pfr) of rice phytochrome B. This raises the possibility that OsPIF14 activity might be modulated by light. However, we did not observe any regulation of the OsDREB1B gene expression by light under control conditions. Moreover, OsPIF14 gene expression was shown to be modulated by different treatments, such as drought, salt, cold and ABA. Interestingly, OsPIF14 showed also a specific cold-induced alternative splicing. All together, these results suggest the possibility that OsPIF14 is involved in cross-talk between light and stress signaling through interaction with the OsDREB1B promoter. Although in the absence of stress, OsDREB1B gene expression was not regulated by light, given previous reports, it remains possible that OsPIF14 has a role in light modulation of stress responses.



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An unexpected finding in the resection specimen of a carcinoma of the oral cavity: A case report.

An unexpected finding in the resection specimen of a carcinoma of the oral cavity: A case report.

Int J Surg Case Rep. 2015 Dec 17;19:55-59

Authors: Olthof DC, Bun RJ, Dutrieux RP, Houdijk AP

Abstract
INTRODUCTION: The occurrence of two synchronous, primary cancers is rare. Thyroid carcinoma is incidentally found in the resection specimen after surgery for head and neck cancer in 0.3-1.9% of the patients.
PRESENTATION OF CASE: In this report, we describe the case of a 72-year-old patient in whom a primary (synchronous) papillary thyroid carcinoma was found coincidentally upon pathologic examination of lymph nodes recovered from the cervical neck lymph node dissection specimen after a 'commando' procedure for carcinoma of the oral cavity.
DISCUSSION AND CONCLUSION: There is no gold standard concerning treatment of the incidentally discovered thyroid gland carcinoma. The decision to perform surgery depends on the life expectancy of the patient, whether the thyroid gland demonstrates clinical or radiologic lesions, the already completed treatment for the head and neck cancer and should always be adjusted to the specific patient.

PMID: 26710330 [PubMed - as supplied by publisher]

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Peripheral facial palsy, the only presentation of a primitive neuroectodermal tumor of the skull base.

Peripheral facial palsy, the only presentation of a primitive neuroectodermal tumor of the skull base.

Int J Surg Case Rep. 2015 Dec 17;19:47-50

Authors: Kim HJ, Kang B, Joo EY, Kim EY, Kwon YS

Abstract
INTRODUCTION: Peripheral facial palsy is rarely caused by primary neoplasms, which are mostly constituted of tumors of the central nervous system, head and neck, and leukemia.
PRESENTATION OF CASE: A 2-month-old male infant presented with asymmetric facial expression for 3 weeks. Physical examination revealed suspicious findings of right peripheral facial palsy. Computed tomography of the temporal bone revealed a suspicious bone tumor centered in the right petrous bone involving surrounding bones with extension into the middle ear cavity and inner ear. Subtotal resection of the tumor was performed due to crucial structures adjacent the mass. Histopathology and immunohistochemistry of the resected tumor was consistent with primitive neuroectodermal tumor.
CONCLUSION: We report a rare case of a primitive neuroectodermal tumor located at the skull base presenting with only peripheral facial palsy.

PMID: 26710328 [PubMed - as supplied by publisher]

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Critical role for BRCA1 expression as a marker of chemosensitivity response and prognosis.

Critical role for BRCA1 expression as a marker of chemosensitivity response and prognosis.

Front Biosci (Elite Ed). 2016;8:72-83

Authors: De Luca P, De Siervi A

Abstract
Chemotherapy is still the leader option for cancer treatment. Nevertheless some patients develop chemotherapy resistance. One major research goal is to identify the critical genes involved in chemotherapy response to predict the best therapy option for patients. Germline mutations in the BReast Cancer susceptibility gene (BRCA1) are associated to increased risk of developing breast, ovarian and other types of cancers. However, due to harmful BRCA1 gene mutations are relatively rare in the general population, nowadays most researchers focused on BRCA1 expression downregulation and/or epigenetic inactivation in sporadic tumors as a prognosis tool for chemotherapy response in patients. Chemotherapy response can be dramatically different depending on BRCA1 expression status, tumor type and drug. Hence, the chemotherapy response could be dissimilar in breast, ovarian, uterine, prostate, esophageal, gastric and lung cancers. Additionally, differential BRCA1 expression in sporadic tumors shows different response to DNA-damaging agents, mitotic inhibitors or PARP inhibitors. In this review we will examine the response to different chemotherapy agents in several cancer types depending on BRCA1 expression status.

PMID: 26709647 [PubMed - as supplied by publisher]

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