Medicine by Sfakianakis Alexandros: 04/09/17

Κυριακή 9 Απριλίου 2017

Whole-exome sequencing identifies a homozygous donor splice site mutation in STAG3 that causes primary ovarian insufficiency

Abstract

Primary ovarian insufficiency (POI) is the depletion or loss of normal ovarian function, which cause infertility in women before the age of 40 years. Two homozygous germline truncation mutations in STAG3 gene had been reported to causes POI in consanguineous families. Here, we aimed to identify the genetic cause of POI in two affected sisters manifested with primary amenorrhea and partial development of secondary sexual characters with normal range of height of a consanguineous Han Chinese family. Whole exome and Sanger sequencing identified a homozygous donor splice site mutation (NM_012447.2: c.1573+5G>A) in the STAG3 gene. RT-PCR revealed that the mutation causes loss of wild type donor splice site which leads to aberrant splicing of STAG3 mRNA and consecutive formation of STAG3 alternative transcript (p.Leu490Thrfs*10) . This is the first report of splice-site mutation of STAG3 gene causes POI in two Han Chinese patients.

Graphical abstract

A: Pedigree and Sanger sequencing analysis of the family in this study. B: The sequence of the RT-PCR products. C: In silico protein 3D structure analysis.

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Delayed right chylothorax after left blunt chest trauma: a case report

Chylothorax is a disease that has various causes such as neoplasm, infection, post-surgery trauma, congenital, and venous thrombosis. In approximately 15% of cases of chylothorax, the exact cause is unknown. W...

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Remarkable response to fluorouracil, leucovorin, oxaliplatin, and irinotecan therapy in urothelial cancer of the renal pelvis: a case report

No standard chemotherapy regimen for advanced urothelial cancer has been established, except for cisplatin-based regimens. We report the case of a patient with double primary cancer, urothelial carcinoma of th...

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IL6 is associated with response to dasatinib and cetuximab: Phase II clinical trial with mechanistic correlatives in cetuximab-resistant head and neck cancer

Publication date: June 2017
Source:Oral Oncology, Volume 69
Author(s): L.P. Stabile, A.M. Egloff, M.K. Gibson, W.E. Gooding, J. Ohr, P. Zhou, N.J. Rothenberger, L. Wang, J.L. Geiger, J.T. Flaherty, J.R. Grandis, J.E. Bauman
ObjectiveSrc family kinase (SFK) activation circumvents epidermal growth factor receptor (EGFR) targeting in head and neck squamous cell carcinoma (HNSCC); dual SFK-EGFR targeting could overcome cetuximab resistance.Patients and methodsWe conducted a Simon two-stage, phase II trial of the SFK inhibitor, dasatinib, and cetuximab in biomarker-unselected patients with cetuximab-resistant, recurrent/metastatic HNSCC. Pre- and post-treatment serum levels of interleukin-6 (IL6) were measured by ELISA. HNSCC cell lines were assessed for viability and effects of IL6 modulation following dasatinib-cetuximab treatment.ResultsIn the first stage, 13 patients were evaluable for response: 7 had progressive and 6 had stable disease (SD). Enrollment was halted for futility, and biomarker analysis initiated. Low serum IL6 levels were associated with SD (raw p=0.028, adjusted p=0.14) and improved overall survival (p=0.010). The IL6 classifier was validated in a separate trial of the same combination, but was unable to segregate survival risk in a clinical trial of cetuximab and bevacizumab suggesting serum IL6 may be specific for the dasatinib-cetuximab combination. Enhanced in vitro HNSCC cell death was observed with dasatinib-cetuximab versus single agent treatment; addition of IL6-containing media abrogated this effect.ConclusionClinical benefit and overall survival from the dasatinib-cetuximab combination were improved among patients with low serum IL6. Preclinical studies support IL6 as a modifier of dasatinib-cetuximab response. In the setting of clinical cetuximab resistance, serum IL6 is a candidate predictive marker specific for combined dasatinib-cetuximab. The trial was modified and redesigned as a biomarker-enriched Phase II study enrolling patients with undetectable IL6.

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Cleft Palate Repair without Lateral Relaxing Incision

Background: The goals of successful palate repair include optimization of speech and feeding, avoidance of fistula formation, and mitigation of adverse maxillary growth. However, the effects of scar formation on maxillary growth have not been discussed in detail. Methods: Between November 2010 and December 2011, the palateplasty was performed for 24 patients with cleft palate (median age, 12 months; range, 11–18 months). In the velum, a symmetrical intravelar veloplasty with mucosal Z-plasty was performed on both the nasal and oral sides. In the hard palate, instead of lateral relaxing incisions, a 1-line mucoperiosteal incision along the cleft margins was designed with subperiosteal undermining in the entire palatine bone. The palatal mucoperiosteum was sutured together in the middle of the cleft, and the cleft was directly closed without lateral relaxing incisions. The patients were monitored for 6 months to 1.6 years. Results: None of the cases had issues concerning flap viability, and all palate repairs healed well. Postoperative results were satisfactory, without any complications such as dehiscence, perforation, or palatal fistula. Conclusions: The method presented in this article was effective, with successful palatal closure and without scar formation or mucosal defects along the alveolus. We conclude that minimum contracture of the hard palate was useful for not only mitigating adverse maxillary growth but also for orthodontics.

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Free-style Deepithelialized Propeller Flaps: An Ideal Local Flap to Obliterate Wounds with Dead Space

Background: The reconstruction of the posterior trunk, especially with large dead spaces, remains challenging. Regional muscle flaps may lack adequate volume and reach. The purpose of this report was to evaluate the efficacy of deepithelialized free-style perforator-based propeller flaps to obliterate defects with large dead space. Methods: A total of 7 patients with defects on the posterior trunk with large dead spaces were evaluated. After complete debridement or resection, all flaps were designed on a single perforator adjacent to the defect, deepithelialized, and then rotated in a propeller fashion. Flaps were further modified in some cases such as folding the flap after deepithelialization to increase bulk and to obliterate the dead space. Results: The flap dimension ranged from 10 × 5 × 1 to 15 × 8 × 2.5 cm based on a single perforator. The rotation arch of the flap ranged from 90 to 180 degrees. Uneventful healing was noted in all cases. One case showed latent redness and swelling at 7 months after falling down, which resolved with medication. During the average follow-up of 28 months, there were no other flap and donor site complications. Conclusion: The deepithelialized propeller flap can be used efficiently to obliterate dead spaces in the posterior trunk and retains advantages such as having a good vascular supply, adequate bulk, sufficient reach without tension, and minimal donor site morbidity.

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Delayed right chylothorax after left blunt chest trauma: a case report

Remarkable response to fluorouracil, leucovorin, oxaliplatin, and irinotecan therapy in urothelial cancer of the renal pelvis: a case report

Outcome of recurrent and metastatic head and neck squamous cell cancer patients after first line platinum and cetuximab therapy

Publication date: June 2017
Source:Oral Oncology, Volume 69
Author(s): Marco Siano, Gabriele Infante, Carlo Resteghini, Maria Chiara Cau, Salvatore Alfieri, Cristiana Bergamini, Roberta Granata, Rosalba Miceli, Laura Locati, Lisa Licitra, Paolo Bossi
ObjectivesSecond-line chemotherapy in recurrent and/or metastatic head and neck cancer (r/mHNSCC) patients showed dismal results with limited tumor response and reduced life expectancy. Outside of clinical trials, data on efficacy of second line treatment after first line anti-EGFR-AB combination therapy are not available.Material and methodsData regarding r/mHNSCC consecutive pts treated with cetuximab and platinum from 2009 to 2014 at our center were retrospectively collected. The analyses of response, Progression-Free Survival (PFS) and Overall Survival (OS), each evaluated starting from first and second-line treatment, were performed. Survival curves were estimated with the Kaplan-Meier method and compared using the log-rank test.ResultsWe identified 117 patients treated with first-line platinum and cetuximab-based therapy. Sixty-four (55%) patients did not receive second-line treatment due to worsening in performance status, 2 were not assessable for response thus 51 patients were included for analysis. Fifty-six percent were smokers/former smokers and 78% were male. Primary tumor sites were oropharynx (39%), oral cavity (31%), larynx/hypopharynx (24%) and others (6%). Regimens used in second-line were mostly monotherapies. Twenty-one % of the patients were treated within a clinical trial.Response rate (PR, CR) was 6% with 45% showing SD as best response. Median PFS was 2.2months (95%CI:1.5–2.8months) and OS 6.1months (95%CI:3.7–7.2months).ConclusionsWithin our single center experience only half of the patients with r/mHNSCC were able to receive second-line treatment. Response rate was unsatisfactory, but median OS seems higher than previously reported in an anti-EGFR-AB naïve population (Leon 2005).

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Outcome of recurrent and metastatic head and neck squamous cell cancer patients after first line platinum and cetuximab therapy

IL6 is associated with response to dasatinib and cetuximab: Phase II clinical trial with mechanistic correlatives in cetuximab-resistant head and neck cancer

Vapor-Phase-Gating-Induced Ultrasensitive Ion Detection in Graphene and Single-Walled Carbon Nanotube Networks

Designing ultrasensitive detectors often requires complex architectures, high-voltage operations, and sophisticated low-noise measurements. In this work, it is shown that simple low-bias two-terminal DC-conductance values of graphene and single-walled carbon nanotubes are extremely sensitive to ionized gas molecules. Incident ions form an electrode-free, dielectric- or electrolyte-free, bias-free vapor-phase top-gate that can efficiently modulate carrier densities up to ≈0.6 × 10¹³ cm⁻². Surprisingly, the resulting current changes are several orders of magnitude larger than that expected from conventional electrostatic gating, suggesting the possible role of a current-gain inducing mechanism similar to those seen in photodetectors. These miniature detectors demonstrate charge–current amplification factor values exceeding 10⁸ A C⁻¹ in vacuum with undiminished responses in open air, and clearly distinguish between positive and negative ions sources. At extremely low rates of ion incidence, detector currents show stepwise changes with time, and calculations suggest that these stepwise changes can result from arrival of individual ions. These sensitive ion detectors are used to demonstrate a proof-of-concept low-cost, amplifier-free, light-emitting-diode-based low-power ion-indicator.

Two-terminal graphene/single-walled carbon nanotube devices are extremely sensitive to incident vapor-phase ions. These ions can gate-modulate carrier densities up to ≈0.6 × 10¹³ cm⁻². The detectors demonstrate charge–current amplification factors exceeding 10⁸ A C⁻¹ in vacuum and air, and distinguish positive and negative ions. At extremely low rates of ion incidence, the detector currents show step-wise changes with time that may result from the arrival of single ions.

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Retraction: ‘Dose-dependent dual effect of HTLV-1 tax oncoprotein on p53-dependent nucleotide excision repair in human T-cells’ by Yana Schavinsky-Khrapunsky, Esther Priel and Mordechai Aboud

The above article, published online on 4 October 2007 in Wiley Online Library (wileyonlinelibrary.com), and in Volume 122, pp. 305-316, has been retracted by agreement between the journal Editor in Chief, Professor Peter Lichter, and John Wiley & Sons Ltd. The retraction has been agreed as the bands in Figs 1, 2, 5 and 6 appear to have been manipulated.

Reference

Schavinsky-Khrapunsky, Y., Priel, E. and Aboud, M. (2008), Dose-dependent dual effect of HTLV-1 tax oncoprotein on p53-dependent nucleotide excision repair in human T-cells. Int. J. Cancer, 122: 305–316. doi:10.1002/ijc.23091

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Half knowledge is worse than ignorance....... Imperfect understanding is often more dangerous than ignorance

Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182

6948891480

alsfakia@gmail.com

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Issue Information - TOC

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Characterization of the effect of a new commercial transmission detector on radiotherapy beams

Publication date: Available online 9 April 2017
Source:Practical Radiation Oncology
Author(s): Joey P. Cheung, Angelica Perez-Andujar, Olivier Morin
PurposeTo evaluate the influence of a new commercial transmission detector on radiotherapy beams.Methods and MaterialsA transmission detector designed for online treatment monitoring was characterized on a TrueBeam STx linear accelerator with 6MV, 6FFF, 10MV, and 10FFF beams. Measurements of PDDs, inplane and crossplane off-axis profiles at different depths, transmission factors, and skin dose were acquired with 3x3cm², 5x5cm², 10x10cm², 20x20cm², and 40x40cm² field sizes at 100 cm and 80 cm SSD. A CC04 chamber was used for all profile and transmission factor measurements. Skin dose was assessed at 100 cm, 90 cm, and 80 cm SSD using a variety of detectors (Roos and Markus parallel-plate chambers, and OSLD). Skin dose was also assessed for various patient sample plans with OSLDs.ResultsThe PDDs showed small differences between the unperturbed and perturbed beams for 100 cm SSD (≤4 mm dmax difference, <1.2% average profile difference) for all field sizes. At 80 cm SSD, the differences were larger (≤8 mm dmax difference, <3% average profile difference). The differences were larger for the flattened beams and larger field sizes. The off-axis profiles showed similar trends. Field penumbras looked similar with and without the transmission detector. Comparisons in the profile central 80% showed a maximum average (maximum) profile difference between all field sizes of 1.0% (2.6%) and 1.4% (6.3%) for 100 cm and 80 cm SSD, respectively. The average measured skin dose increase at 100 cm (80 cm) SSD for 10x10cm² field size was <4% (<35%) for all energies. For 40x40cm² field size, this increased to <31% (≤63%). For the sample patient plans, the average skin dose difference was 0.53% (range−6.6% to 10.4%).ConclusionsThe transmission detector has minimal effect on clinically relevant radiotherapy beams for IMRT and VMAT (field sizes 10x10cm² and less). For larger field sizes, some perturbations are observable which would need to be assessed for clinical impact.

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Clinical outcomes of helical conformal versus non-conformal palliative radiotherapy for axial skeletal metastases

Publication date: Available online 9 April 2017
Source:Practical Radiation Oncology
Author(s): Kara D. Romano, Daniel M. Trifiletti, Kristine Bauer-Nilsen, Nolan A. Wages, William T. Watkins, Paul W. Read, Timothy N. Showalter
PurposePalliative radiotherapy (RT) for bone metastases has traditionally been delivered with conventional, non-conformal RT (NCRT). Conformal RT (CRT) is potentially more complex and expensive than NCRT, but may reduce normal tissue dose and subsequently toxicity. In this retrospective analysis, we compared CRT versus NCRT to investigate the association between conformality and toxicity.Methods/MaterialsA retrospective analysis of patients receiving palliative RT for axial skeletal bone metastases from 2012-2014 was conducted. Patient and treatment characteristics were obtained including dosimetric variables, acute toxicity, and subjective pain during treatment and in the acute post-treatment period (≤ 60 days after completion). Statistical analyses included t-tests, Chi-square tests, and multivariate logistic regression (MVA).Results179 patients and 254 bone metastases were identified (142 CRT, 112 NCRT). The CRT and NCRT groups were well matched for baseline characteristics (number of fractions, field size, treatment sites, and concurrent chemotherapy). In MVA models, technique (CRT vs. NCRT) was not associated with development of acute toxicity. Regarding toxicity, ECOG performance status and total dose were significantly associated with a higher rate of acute toxicity during radiotherapy (OR 0.649 and 1.129 and p = 0.027 and 0.044, respectively); and only a higher number of vertebral bodies in the treatment field was significantly associated with acute toxicity post-treatment (OR 1.219, p = 0.028). CRT was associated with improvement in bone pain during and post treatment (p = 0.049 and 0.045, respectively).ConclusionOur results demonstrate no difference in acute toxicity following palliative radiotherapy with CRT compared to NCRT for painful bone metastases; however, treatment volume did predict for increased toxicity. Larger studies may further elucidate the value of CRT including the impact of dose escalation for bone metastases and differences in patient reported outcomes between RT techniques.SummaryConformal radiotherapy (CRT) may provide improved sparing of normal tissues compared to non-conformal radiotherapy (NCRT), and thus reduce toxicity for patients receiving palliative radiotherapy for bone metastases. In this retrospective analysis, we observed no difference in acute toxicity between treatment techniques (CRT versus NCRT); however, larger treatment volumes were associated with increased toxicity. CRT was associated with improvement in bone pain control.

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Half knowledge is worse than ignorance....... Imperfect understanding is often more dangerous than ignorance

Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182

6948891480

alsfakia@gmail.com

http://ift.tt/2nwftws

Half knowledge is worse than ignorance....... Imperfect understanding is often more dangerous than ignorance

Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182

6948891480

alsfakia@gmail.com

Reduced rate of human papillomavirus infection and genetic overtransmission of TP53 72C polymorphic variant lower cervical cancer incidence

BACKGROUND

Cervical cancer is a predominantly human papillomavirus (HPV)-driven disease worldwide. However, its incidence is unexplainably low in western Asia, including Saudi Arabia. Using this paradigm, we investigated the role of HPV infection rate and host genetic predisposition in TP53 G72C single nucleotide polymorphism (SNP) presumed to affect cancer incidence.

METHODS

Patients treated between 1990 and 2012 were reviewed, and a series of 232 invasive cervical cancer cases were studied and compared with 313 matched controls without cancer. SNP was genotyped by way of direct sequencing. HPV linear array analysis was used to detect and genotype HPV in tumor samples.

RESULTS

The incidence of cervical cancer revealed bimodal peaks at 42.5 years, with a slighter rebound at 60.8 years. Among all cases, 77% were HPV-positive and 16 HPV genotypes were detected—mostly genotypes 16 (75%) and 18 (9%)—with no difference by age, histology, or geographical region. Although the TP53 G72C genotype was not associated with overall cervical cancer risk, it was significantly associated with HPV positivity (odds ratio, 0.57; 95% confidence interval, 0.36-0.90; P = .016). Furthermore, the variant C allele was significantly overtransmitted in the population (P < .0003).

CONCLUSION

Cervical cancer incidence displays bimodal curve peaking at a young age with secondary rebound at older age. The combination of relative low HPV infection and variant TP53 72C allele overtransmission provide a plausible explanation for the low incidence of cervical cancer in our population. Therefore, HPV screening and host SNP genotyping may provide more relevant biomarkers to gauge the risk of developing cervical cancer. Cancer 2017. © 2017 The Authors. Cancer published by Wiley Periodicals, Inc. on behalf of American Cancer Society.

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What is the clinical significance of esophagogastric junction outflow obstruction? evaluation of 60 patients at a tertiary referral center

Abstract

Background

Esophagogastric junction (EGJ) outflow obstruction (EGJOO) is characterized by impaired EGJ relaxation with intact or weak peristalsis. Our aims were to evaluate: (i) prevalence, (ii) yield of fluoroscopy, endoscopy, and endoscopic ultrasound (EUS), (iii) outcomes, and (iv) whether this data differed based on quantitative EGJ relaxation.

Methods

Studies that met criteria for EGJOO were identified. Demographics, encounters, endoscopy, radiology, treatment decisions, and outcomes were extracted.

Key Results

Sixty studies were identified. Dysphagia was the most common symptom. Forty patients underwent barium esophagram (BE): normal (11), hiatal hernia (20), spasm/dysmotility (17), EGJ narrowing (10), compression (2), Schatzki's ring (5), malrotation (1), gastric volvulus (1), mass (1). Esophagogastroduodenoscopy (EGD) was performed in 41 patients: normal (19), hiatal hernia (13), Schatzki's ring (6), esophagitis (3), esophageal candidiasis (3), mass (1). EUS was performed in 20 patients and was frequently normal. Twenty-two patients underwent intervention. While transient improvement was noted in the majority, persistent improvement was seen in only one of nine patients (dilatation), four of six patients (botulinum toxin), and three patients who underwent per-oral endoscopic myotomy. No patients treated with medical therapy alone had improvement in dysphagia. There was no difference in symptoms or outcomes based on quantitative EGJ relaxation.

Conclusions & Inferences

The manometric criterion EGJOO defines a heterogeneous clinical group. While BE, EGD, and EUS all provide complementary information, a significant percentage of these studies will be normal. For patients with dysphagia, outcome may depend on EGJ disruption. There were no differences in symptoms our outcomes based on quantitative EGJ relaxation.

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LunHab: Interactive effects of a 10-day sustained exposure to hypoxia and bedrest on aerobic exercise capacity in male lowlanders

Abstract

The study examined the interactive effects of a 10-day exposure to hypoxia and bedrest on the whole body peak oxygen uptake ( inline image ) during maximal exercise, and on skeletal-muscle and cerebral oxygenation during submaximal exercise. Nine males underwent three 10-day confinements, in a Latin-square order: (i) a normoxic bedrest [NBR; partial pressure of inspired O₂ (P_IO₂) = 134.2 ± 0.7 mmHg], (ii) a hypoxic bedrest (HBR; P_IO₂ = 102.9 ± 0.1 mmHg at day 1, 91.5 ± 1.2 mmHg at days 3–10), and (iii) a hypoxic ambulation (HAMB; P_IO₂ as in HBR). Before, one (R + 1) and three (R+3) days after each confinement, subjects performed exhaustive, incremental-load and moderate-intensity constant-load (CLTs) cycle-ergometry trials, while breathing either room air, or a hypoxic gas mixture. During the CLTs, changes in the regional oxygenation of the cerebral frontal cortex, and the vastus lateralis and intercostal muscles were monitored with near-infrared spectroscopy. At R+1, the confinement-related impairment in inline image was greater after HBR than after NBR or HAMB, regardless of whether the trial was performed in room-air or hypoxia (HBR: −16.2%, NBR: −8.3%, HAMB: −4.1%; P = 0.001). During the CLTs, bedrest aggravated the exercise-induced reduction in locomotor- and respiratory-muscle oxygenation (P ≤ 0.05); an effect that was less after HBR than after NBR (P ≤ 0.05). The hypoxia exercise-induced cerebral vasodilatatory response was blunted by HBR, likely due to the marked hyperventilation-dependent hypocapnea, attendant to the sustained hypoxic stimulus. Hence, short-term exposure to hypoxia potentiates the reduction in inline image , but it mitigates the impairment in skeletal-muscle oxidative capacity induced by bedrest.

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Corrigendum

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Corrigendum

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Roger Cotton Histopathology Prize 2016

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Issue Information

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"Med Oral Patol Oral Cir Bucal"[jour]; +17 new citations

17 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Med Oral Patol Oral Cir Bucal"[jour]

These pubmed results were generated on 2017/04/09

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

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"Med Oral Patol Oral Cir Bucal"[jour]; +17 new citations

17 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Med Oral Patol Oral Cir Bucal"[jour]

These pubmed results were generated on 2017/04/09

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"Med Oral Patol Oral Cir Bucal"[jour]; +17 new citations

17 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Med Oral Patol Oral Cir Bucal"[jour]

These pubmed results were generated on 2017/04/09

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SIRT1 and AMPK pathways are essential for the proliferation and survival of primary effusion lymphoma cells

Abstract

Primary effusion lymphoma (PEL) is a rare and aggressive B-cell lymphoma with a dismal prognosis caused by infection of Kaposi's sarcoma-associated herpesvirus. Despite the findings that numerous viral genes and cellular pathways are essential for the proliferation and survival of PEL cells, there is currently no effective therapeutic treatment for PEL. Here, we report that the metabolic sensor SIRT1 is functionally required for sustaining the proliferation and survival of PEL cells. Knockdown of SIRT1 with specific shRNAs or inhibition of SIRT1 with an inhibitor (Tenovin-6) induced cell cycle arrest and apoptosis in PEL cells. We detected high levels of AMPK activation in PEL cells; reflected in AMPKα1 phosphorylation at T174. Knockdown or inhibition of SIRT1 reduced AMPK activation, indicating that SIRT1 was required for AMPK activation. Interestingly, knockdown of AMPK with specific shRNAs or inhibition of AMPK with the inhibitor Compound C recapitulated the phenotype of SIRT1, and induced cell cycle arrest and apoptosis, whereas overexpression of a constitutively-active AMPK construct rescued the cytotoxic effect of SIRT1 knockdown. Remarkably, treatment with Tenovin-6 effectively inhibited the initiation and progression of PEL, and significantly extended the survival of mice in a murine PEL model. Taken together, these results illustrate that the SIRT1-AMPK axis is essential for maintaining the proliferation and survival of PEL, identify SIRT1 and AMPK as potential therapeutic targets, and Tenovin-6 as a candidate therapeutic agent for PEL patients.

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Squamous cell carcinoma arising from lupus vulgaris with a >60-year history

Abstract

We report the case of a 71-year-old Japanese man with squamous cell carcinoma arising from lupus vulgaris on the face, >60 years after the appearance of the lupus vulgaris. The red plaque on the patient's face had been diagnosed as a hemangioma or rosacea at several hospitals, although he had had lung tuberculosis at the age of 4 and his father died from lung tuberculosis at 38 years of age. Although lupus vulgaris was the most frequent clinical form of true skin tuberculosis until the 1960s, it has become rare since then. Malignant tumors are known to occur in individuals with lupus vulgaris, with a reported rate of 0.5–10.5%. In light of Japan's "graying society," tuberculosis is still an important disorder, and clinicians must remain aware of cutaneous tuberculosis.

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First report of stereotactic body radiotherapy for large-volume spinal tumors

Abstract

Stereotactic body radiotherapy (SBRT) for spinal metastases is very effective for pain relief and local tumor control. However, high-level evidence is limited to lesions in a single vertebra or in 2 contiguous vertebrae. To clarify the toxicities, we report herein the results of treatment for 4 patients who received SBRT to large-volume spinal tumors. The lesions comprised bone metastasis from renal cancer, local recurrence of rectal cancer invading the spine, osteosarcoma, and giant cell tumor of bone in 1 case each. Tumor volumes ranged from 738 to 1,766 ml. Doses ranging from 24 Gy in 2 fraction to 35 Gy in 5 fractions were delivered. The median follow-up was 24 months (range 4–35 months). Pain reduction was achieved in all patients in 4 weeks after SBRT. The outcomes were partial response in 1 patient, stable disease in 2, and tumor progression in 1. One patient showed grade 3 acute radiation dermatitis 4 weeks after SBRT, and another patient showed grade 3 late radiation dermatitis.

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Prominent myalgia-an important clue in the diagnosis of a muscle disorder

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The emerging role of endoscopic ultrasound for pancreaticobiliary diseases in the pediatric population

Abstract

Background

Endoscopic ultrasound (EUS) is a useful diagnostic and therapeutic tool in the pediatric population. Given the high accuracy and sensitivity of EUS, it is particularly effective in evaluating pancreaticobiliary disease. Published literature in the use of pediatric EUS is limited. Therefore we aimed to review the current literature for EUS indications, safety, and effectiveness for the pediatric population.

Data sources

English language articles on the use of pediatric endoscopic ultrasound in evaluating pancreaticobiliary diseases were retrieved from PubMed/ MEDLINE.

Results

We analyzed various retrospective studies and case series publications. Data was extrapolated for pediatric patients with pancreaticobiliary diseases.

Conclusions

EUS offers superior imaging. It is comparible to magnetic resonance imaging and/or pancreatic-protocol computed tomography. In the current literature, there are a variety of pancreaticobiliary conditions where EUS was utilized to make a diagnosis. These include recurrent pancreatitis, congenital anomalies, microlithiasis, pancreatic pseudocysts, and pancreatic mass lesions. EUS was shown to be a safe and cost-effective modality with both diagnostic and therapeutic capabilities in the pediatric population. EUS is now increasingly being recognized as a standard of care when evaluating pancreaticobiliary conditions in children.

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Discrepancy in prevalence of Huntington's disease in two Swedish regions

Background

Huntington's disease (HD) is a neurodegenerative disease with an autosomal dominant pattern of inheritance. The prevalence varies between different geographical regions with an estimated average in Europe of about 6/100 000. Parts of northern Sweden are known to have an accumulation of HD, but no prevalence studies have been undertaken for 50 years.

Object

The aim of this study was to estimate the prevalence of HD in the two different Swedish counties of Jämtland and Uppsala and compare them with the reported prevalence in Europe.

Method

Patients registered with the diagnosis of HD were identified through medical records in each county. Presymptomatic patients were excluded. We also compared the annual number of individuals with HD registered in the database of the National Board of Health and Welfare in these regions, with all of Sweden.

Results

The prevalence of HD was found to be 22.1/100 000 in Jämtland and 4.9/100 000 in Uppsala county. The mean age was 62.2 years and 61.8 years, respectively. The annual average of patients with HD registered at inpatient care was 1.5/100 000 in Jämtland, 0.44/100 000 in Uppsala county, and 0.56/100 000 in all of Sweden.

Conclusion

The prevalence of patients with the diagnosis of HD is four times higher in the county of Jämtland than in the county of Uppsala, where the prevalence is more similar to the average in Europe. Our results support earlier findings of regional variations of HD prevalence with an accumulation in certain parts of northern Sweden.

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Multiple biomarkers improve the prediction of multiple sclerosis in clinically isolated syndromes

Objectives

Since its introduction, MRI had a major impact on the early and more precise diagnosis of multiple sclerosis (MS), and the 2010 diagnostic criteria even allow a diagnosis to be made just after a single attack if stringent MRI criteria are met. Several other clinical and paraclinical markers have been reported to be associated with an increased risk of MS independently of MRI in patients with clinically isolated syndromes (CIS), but the incremental usefulness of adding them to the current criteria has not been evaluated. In this study, we determined whether multiple biomarkers improved the prediction of MS in patients with CIS in a real-world clinical practice.

Materials and methods

This was a retrospective study involving patients with CIS admitted to our department between 2000 and 2013. We evaluated baseline clinical, MRI, neurophysiological, and cerebrospinal fluid (CSF) data.

Results

During follow-up (median, 7.2 years), 127 of 243 participants (mean age, 31.6 years) developed MS. Cox proportional-hazards models adjusted for established MRI criteria, age at onset, number of T1 lesions, and presence of CSF oligoclonal bands significantly predicted the risk of developing MS at 2 and 5 years. The use of multiple biomarkers led to 29% net reclassification improvement at 2 years (P<.001) and 30% at 5 years (P<.001).

Conclusions

The simultaneous addition of several biomarkers significantly improved the risk stratification for MS in patients with CIS beyond that of a model based only on established MRI criteria.

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Housing accessibility problems for people with Parkinson's disease

Abstract

Objectives

Promoting accessible housing for all citizens is high on the political agenda. Knowledge is, however, limited regarding housing accessibility problems for people with Parkinson's disease (PD). The objectives were to investigate housing accessibility problems among people with PD at different stages of disease severity and to analyze the potential impact of improved functional ability on accessibility problems.

Materials and methods

The study included 253 participants with PD (61% men; mean age 70 years). Disease severity was assessed by the Hoehn and Yahr (HY) I-V stages: HY I, n=50; II, n=73, III, n=66; IV-V, n=64. Using the Housing Enabler (HE) instrument, accessibility problems were investigated by combining assessments of the person's functional capacity with assessments of physical barriers in the housing environment into a person-environment fit measure (HE-score). To analyze potential impact of improved functional ability on housing accessibility problems, data simulation was applied.

Results

HE-scores differed significantly (P<.001) in relation to HY stages. Overall balance problems explained 22% and walking devices 17% of the HE-scores, whereas environmental barriers contributed to a lesser extent. The environmental barriers generating the most HE-scores were "no grab bar at shower/bath/toilet" and "wall-mounted cupboards and shelves placed high". A simulation of improved balance significantly (P<.001) lowered the HE-scores in all HY stages.

Conclusions

The results suggest that actions targeting balance problems and dependence on walking devices have the greatest potential for reducing housing accessibility problems for people with PD. The study also details environmental barriers that need specific attention when providing housing adaptation services.

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Psychiatric Symptoms in Patients with Cushing’s Syndrome: Prevalence, Diagnosis and Management

Abstract

Cushing's syndrome (CS) results from chronic exposure to cortisol excess, produced by the adrenal cortex. Hypercortisolism predisposes to psychiatric and neurocognitive disorders, mainly to depression and anxiety disorders. Screening tools to identify psychiatric symptoms are available for clinicians in their daily practice, although a specific diagnosis should be performed by specialists. Even if psychiatric symptoms improve after remission of hypercortisolism, complete recovery may not be achieved. Given the burden of these symptoms, psychiatric or psychological monitoring and treatment should be offered through all phases of CS, with a multidisciplinary approach. The aim of this article is to review data on the prevalence, diagnosis and management of psychiatric symptoms seen in patients with CS and to propose therapeutic approaches that may be followed in clinical practice. The prevalence of different psychiatric disorders has been described in both the active phase and after CS remission. Patients may not talk spontaneously about psychiatric symptoms they present, thus clinicians should ask directly about them. We recommend the use of screening tools in clinical practice to detect and treat these symptoms promptly. Even if reference endocrinologists cannot perform a definite psychiatric diagnosis, it will be important to ask patients directly about the presence of symptoms and refer if necessary to a psychiatrist. Additionally, patient information and educational programmes could be useful to manage psychiatric symptoms and to improve quality of life in patients with CS.

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Genome-wide characterization and expression analysis of MYB transcription factors in Lotus japonicas and Medicago truncatula

Abstract

MYB is one of the most abundant families of plant transcription factors (TFs), and is involved in plant growth and development regulation, abiotic stress tolerance, hormone signal transduction, and disease resistance. Previously, few genome-wide assays have been conducted in Lotus japonicas and Medicago truncatula. Here, with the recent release of the genome sequences, we performed genome-wide study of MYB TFs in both, including family characterization, evolution and expression analysis. In this study, we totally identified 104 and 166 MYB genes in L. japonicas and M. truncatula, respectively. All these MYB genes were categorized into 261 R2R3-MYBs, 7 R1R2R3-MYBs and 2 atypical MYB genes. This result showed that the majority (96.7%) of them belong to the R2R3-MYB subfamily in both species. Based on phylogenetic analysis, MYB transcription factors were divided into 14 subgroups. MYB genes in four typical branches indicated species-specific expansions in M. truncatula. The exon numbers and conserved motifs associated with MYB domains were also characterized. Furthermore, gene expression analysis performed in various organs showed diverged expression profiles of most MYB genes, suggesting their potential roles in regulating organ growth and development in L. japonicas and M. truncatula.

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The complete mitochondrial genome of a threatened loach ( Sinibotia reevesae ) and its phylogeny

Abstract

In present study, the complete mitochondrial genome of Sinibotia reevesae was first sequenced using the next-generation sequencing technology and annotated using bioinformatic tools. The circular mitochondrial genome was 16,572 bp in length, and contained 13 protein-coding genes, 2 ribosomal RNA genes, 22 transfer RNA genes, and 1 displacement loop locus. It presents a typical gene organization and order for completely sequenced cypriniformes mitogenomes. The control region could be divided into three parts included the extended termination associated sequence domain, the central conserved domain and the conserved sequence block. Interestingly, two stem-loop domains were found in control region and O_L region, respectively. Furthermore, phylogenetic analyses using concatenated amino acid and nucleotide sequences of the 13 protein-coding genes with two different methods (Maximum likelihood and Bayesian analysis) both highly supported the close relationship of S. reevesae and Sinibotia superciliaris, which was in line with the previous classifications based on morphological and molecular studies. These data provide useful information for a better understanding of the mitogenomic diversities and evolution in fish as well as novel genetic markers for studying population genetics and species identification.

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Effects of Diode Laser, Gaseous Ozone, and Medical Dressings on Enterococcus faecalis Biofilms in the Root Canal Ex Vivo

The objective was to compare the antibacterial effects of adjunctive disinfection using diode laser and gaseous ozone compared to the medical dressings calcium hydroxide (Ca(OH)2) and chlorhexidine gel (CHX-Gel) on Enterococcus faecalis biofilms in human root canals ex vivo. Root canals of 180 human extracted teeth were infected by E. faecalis and divided into 3 main groups (G): G1, control; G2, instrumentation and irrigation using 0.9% NaCl; G3, instrumentation and irrigation using 1% NaOCl. In each main group, the following treatments were applied: gaseous ozone, diode laser, and medical dressings of Ca(OH)2 or CHX-Gel for 7 days (). Reduction of colony forming units (CFUs) inside the root canal of planktons and frequencies of adherent bacteria after treatment were calculated. Bacterial reduction was significantly affected by the irrigation protocol () and the disinfection method (), and a significant interaction between both factors could be observed (; ANOVA). In G3 (instrumentation using 1% NaOCl), no significant effect of disinfection methods could be demonstrated on planktonic bacteria (; ANOVA) and frequencies of adherent bacteria (; chi-square test). Instrumentation and irrigation using NaOCl combined with ozone or laser application resulted in comparable bacterial reduction on E. faecalis to the application of medical dressings.

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The Demographic Study of Otorhinolaryngological Trauma Among Patients with Head and Neck Trauma and Their Management in a Tertiary Care Centre

Abstract

The trauma has been increasing in frequency, especially in recent decades because of the higher number of automobile accidents and violence. The ear, nose and face region is the area in the body that is commonly involved in head and neck injury. Trauma to this region is often associated with mortality and varying degree of physical, functional and psychological damage. To study the demography, aetiology, clinical presentation, outcome of ENT trauma in our tertiary care centre and to compare our study with previous studies to see the changing trends with passage of time. A prospective study was conducted on 200 head and neck patients with ENT injuries during a period of 1 year from July 2014 to July 2015, who were admitted in ENT Department and Trauma Centre of Gajra Raja Medical College and J.A. Group of Hospital, Gwalior. Most of the patients were young adult males of age group 18–40 years (45, 22.5%) with a male:female ratio 1.78:1. Among them 53% patients were from rural area while 47% were from urban area. RTA is the most prevalent cause of ENT trauma (37%), followed by interpersonal violence (25%). 27% of the patients had facial injury and multiple region injury each. Among 200 patients 33% were managed conservatively on the other hand 66% patients required surgical interventions. Mortality rate was 8%. Among all 184 survivors 25.5% suffered from hearing loss, 14.5% had tympanic membrane perforation with hearing loss, 12% had pinna disfigurement, 10% had change in voice, 6.5% had permanent nasal deformity, 2% had facial nerve palsy. Young male adults were the most prevalent victims of ENT trauma, and Road traffic accidents were responsible for majority of the ENT injuries. Screening of all the patients with head and neck injuries for the presence of trauma in the ENT region should be introduced to enable early detection and therefore prevention of complications.

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The Demographic Study of Otorhinolaryngological Trauma Among Patients with Head and Neck Trauma and Their Management in a Tertiary Care Centre

Abstract

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The role of vitamin D in the endocrinology controlling calcium homeostasis

Publication date: Available online 9 April 2017
Source:Molecular and Cellular Endocrinology
Author(s): James C. Fleet
Vitamin D and its' metabolites are a crucial part of the endocrine system that controls whole body calcium homeostasis. The goal of this hormonal control is to regulate serum calcium levels so that they are maintained within a very narrow range. To achieve this goal, regulatory events occur in coordination at multiple tissues, e.g. the intestine, kidney, bone, and parathyroid gland. Production of the vitamin D endocrine hormone, 1,25 dihydroxyvitamin D (1,25(OH)2 D) is regulated by habitual dietary calcium intake and physiologic states like growth, aging, and the menopause. The molecular actions of 1,25(OH)2 D on calcium regulating target tissues are mediated predominantly by transcription controlled by the vitamin D receptor. The primary role for 1,25(OH)2 D during growth is to increase intestinal calcium absorption so that sufficient calcium is available for bone mineralization. However, vitamin D also has specific actions on kidney and bone.

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Magee equations and oncotype DX ® -a perspective

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Effect of occupational exposure to lead on new risk factors for cardiovascular diseases

Objective

The cardiovascular effects of lead are caused primarily through an effect on blood pressure but are not just limited to an increased risk of hypertension. The aim of our study was to determine to what extent chronic exposure to lead affects new risk factors for cardiovascular disease (CVD) development, such as biomarkers of inflammation (C reactive protein (CRP) and fibrinogen) and biomarkers of endothelial dysfunction (homocysteine, asymmetric dimethylarginine (ADMA) and L-homoarginine).

Methods

A cross-sectional study was performed on a sample of 231 male volunteers, aged 20–60 years, working for at least 2 years in jobs with exposure to lead during the mining and processing of lead–zinc ores. The association between lead in blood and CVD biomarkers was evaluated using multiple linear regression, and the effects of exposure level were observed in workers divided into subgroups according to their blood lead concentration: <250, 250–400 and >400 µg/L.

Results

Lead in the blood correlated with new risk factors for CVD except for ADMA. Multiple regression analysis revealed that predictive properties for lead in the blood increased for particular biomarkers in the following order: L-homoarginine, fibrinogen, CRP and homocysteine. Among the specified groups, significant differences were observed only between the groups with the most and least exposure to lead, which differed in concentrations by 54.3% for CRP, 19.3% for fibrinogen, 10.6% for homocysteine and –25.5% for L-homoarginine.

Conclusions

These findings support the hypothesis that occupational exposure to lead can promote atherosclerosis, particularly in highly exposed individuals.

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Effect of occupational physical activities on vertebral dimensions in midlife in the Northern Finland Birth Cohort 1966

Objectives

The vertebral cross-sectional area (CSA) is a major determinant of vertebral strength. Since leisure-time physical activity (LTPA) is known to affect vertebral CSA, we hypothesised that engagement in physical activity at work might have similar effects on vertebral size. We aimed to examine the association between various adulthood occupational physical activities (OPA) and vertebral CSA, and to evaluate the association between OPA intensity and vertebral CSA.

Methods

We used the prospective population-based Northern Finland Birth Cohort 1966. Our sample consisted of 712 participants with a mean age of 46.8 years. We assessed their engagement in various individual physical work activities at the ages of 31 and 46, and created overall OPA categories (high, moderate and low intensity), which we used in the analyses to study their association with vertebral CSA in middle age. Linear regression was used as the statistical method with adjustments for LTPA, vertebral height, body mass index and smoking.

Results

A statistically significant association was found between occupational sitting and smaller vertebral CSA in men, but only at the age of 31 (49.2 mm² smaller among those who sit often vs rarely (95% CI –96.0 to –2.4)). No significant differences were detected between OPA categories and vertebral CSA (p>0.05). Thus, we found no consistent association between OPA and vertebral size among either sex.

Conclusions

OPA seems to have very little effect on vertebral size. Our results suggest that the effect of LTPA on vertebral size is different to that of OPA.

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Congenital anomalies: an under-evaluated risk of climate change

The pattern of extreme climate events has changed considerably over the past decades.¹ The frequency of extreme heat conditions has steadily increased during the second half of the 20^th century and it is predicted that there will be a surge in the incidence and intensity of such events in the future.¹ At the same time, the rapid urbanisation which has occurred worldwide over the last 50 years is predicted to continue,² leading to an increase in the number of people vulnerable to excessive heat. The combination of the projected increase in the incidence and intensity of such conditions and the growing number of people vulnerable to these conditions has given rise to major public health concerns.

Pregnant women are among the subpopulations most vulnerable to the effects of extreme heat conditions.³ Increased fat deposition and a decreased body surface area to body mass ratio due to weight...

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Predictive value of work-related self-efficacy change on RTW for employees with common mental disorders

To improve interventions that aim to promote return to work (RTW) of workers with common mental disorders (CMD), insight into modifiable predictors of RTW is needed. This study tested the predictive value of self-efficacy change for RTW in addition to preintervention levels of self-efficacy. RTW self-efficacy was measured 5 times within 9 months among 168 clients of a mental healthcare organisation who were on sick leave due to CMD. Self-efficacy parameters were modelled with multilevel analyses and added as predictors into a Cox regression analysis. Results showed that both high baseline self-efficacy and self-efficacy increase until full RTW were predictive of a shorter duration until full RTW. Both self-efficacy parameters remained significant predictors of RTW when controlled for several relevant covariates and within subgroups of employees with either high or low preintervention self-efficacy levels. This is the first study that demonstrated the prognostic value of self-efficacy change, over and above the influence of psychological symptoms, for RTW among employees with CMD. By showing that RTW self-efficacy increase predicted a shorter duration until full RTW, this study points to the relevance of enhancing RTW self-efficacy in occupational or mental health interventions for employees with CMD. Efforts to improve self-efficacy appear valuable both for people with relatively low and high baseline self-efficacy.

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Elevated ambient temperatures and risk of neural tube defects

Objectives

The association between ambient heat and neural tube defects has received limited attention, despite imminent climate warming this century. We sought to determine the relationship between elevated outdoor temperatures during neurogenesis and risk of neural tube defects.

Methods

We carried out a retrospective cohort study of 887 710 fetuses between 3 and 4 weeks postconception from the months of April through September for 1988–2012 in Quebec, Canada. The exposure was maximum daily temperature and the outcome presence of neural tube defects at delivery. We estimated prevalence ratios (PR) and 95% CIs for the association between maximum temperature and neural tube defects in log-binomial regression models adjusted for maternal characteristics.

Results

Relative to 20°C, exposure to temperatures of 30°C was associated with risk of neural tube defects on day 5 (PR 1.56, 95% CI 1.04 to 2.35) and day 6 (PR 1.49, 95% CI 1.00 to 2.21) of the 4th week postconception, during the time of neural tube closure. The trend was apparent for spina bifida and anencephalus/encephalocoele, the main subtypes of neural tube defects. Temperature during the 3rd week postconception was not associated with neural tube defects.

Conclusions

Elevated ambient temperatures may be weakly associated with risk of neural tube defects during tube closure.

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Mustard gas exposure and mortality among retired workers at a poisonous gas factory in Japan: a 57-year follow-up cohort study

Objectives

Mustard gas (MG) has been the most widely used chemical warfare agent in the past century. However, few but conflicting data exist on the effects of MG exposure on long-term mortality. We investigated MG-related mortality in retired workers at a poisonous gas factory.

Methods

We assessed mortality rates among 2392 male and 1226 female workers, whose vital status could be determined through 31 December 2009, at a poisonous gas factory operating from 1929 to 1945 in Okuno-jima, Japan. The analysis employed standardised mortality ratios (SMRs) calculated using national and prefectural references and a Cox proportional hazard regression model. Applying the Kaplan-Meier method, we compared cumulative death rates in the study cohort stratified by an 'Okuno-jima MG Index' which represented the product of HRs derived for job category and length of service.

Results

Among male workers, we found significant excesses in mortality from upper respiratory tract cancer (SMR 3.06), liver cancer (1.67), lung cancer (2.01) and chronic bronchitis/emphysema (4.84) compared with the national population, as well as stomach cancer (1.20) versus the Hiroshima Prefecture population. When stratified into 3 subgroups by the Okuno-jima MG Index, those with a higher Okuno-jima MG Index had significantly higher cumulative rates of death from respiratory cancer and chronic bronchitis/emphysema.

Conclusions

MG exposure significantly increases the long-term risk of death from respiratory cancer and chronic bronchitis/emphysema. The Okuno-jima MG Index may be a useful indicator for estimating cumulative MG exposure.

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Importance of updating old cohorts for new findings

Mustard gas, or sulfur mustard, is a chemical with devastating acute toxic effects. The development, production, acquisition, stockpiling and transfer of all chemical weapons, including mustard gas, were banned by The Chemical Weapons Convention of 1997. However, mustard gas was used as a chemical warfare agent during many international political conflicts and wars of the twentieth century. A known, highly toxic, mutagenic carcinogen in animal models and an established carcinogen in humans,1 mustard gas has caused much human suffering, invalidating and even killing people. The acute toxic manifestations of exposure to mustard gas consist of epithelial detachment, necrosis in the respiratory system, skin and eyes and sometimes gastric complications. The long-term health consequences of such exposure include epithelial fibrosis and cancer and have been the subject of long-term follow-up studies, especially among military personnel and inhabitants of war-stricken areas in which chemical weapons were used.2...

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Non-occupational physical activity levels of shift workers compared with non-shift workers

Objectives

Lack of physical activity (PA) has been hypothesised as an underlying mechanism in the adverse health effects of shift work. Therefore, our aim was to compare non-occupational PA levels between shift workers and non-shift workers. Furthermore, exposure–response relationships for frequency of night shifts and years of shift work regarding non-occupational PA levels were studied.

Methods

Data of 5980 non-shift workers and 532 shift workers from the European Prospective Investigation into Cancer and Nutrition-Netherlands (EPIC-NL) were used in these cross-sectional analyses. Time spent (hours/week) in different PA types (walking/cycling/exercise/chores) and intensities (moderate/vigorous) were calculated based on self-reported PA. Furthermore, sports were operationalised as: playing sports (no/yes), individual versus non-individual sports, and non-vigorous-intensity versus vigorous-intensity sports. PA levels were compared between shift workers and non-shift workers using Generalized Estimating Equations and logistic regression.

Results

Shift workers reported spending more time walking than non-shift workers (B=2.3 (95% CI 1.2 to 3.4)), but shift work was not associated with other PA types and any of the sports activities. Shift workers who worked 1–4 night shifts/month (B=2.4 (95% CI 0.6 to 4.3)) and ≥5 night shifts/month (B=3.7 (95% CI 1.8 to 5.6)) spent more time walking than non-shift workers. No exposure–response relationships were found between years of shift work and PA levels.

Conclusions

Shift workers spent more time walking than non-shift workers, but we observed no differences in other non-occupational PA levels. To better understand if and how PA plays a role in the negative health consequences of shift work, our findings need to be confirmed in future studies.

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Risk factors for leptospirosis seropositivity in slaughterhouse workers in western Kenya

Objectives

Leptospirosis has been documented in slaughterhouse workers around the world. Risk factors include smoking and drinking at work, and performing tasks such as cleaning offal. This paper examined risk factors for leptospirosis seropositivity in slaughterhouse workers in western Kenya.

Methods

The study was conducted between May 2011 and October 2012. Questionnaires were used to collect information from workers on demographic data, health and hygiene practices in the slaughterhouse. A commercial ELISA detected antibodies to Leptospira spp. in serum samples and multilevel logistic regression analysis identified factors associated with leptospirosis seropositivity.

Results

A total of 737 workers from 142 slaughterhouses were recruited. The seroprevalence of antibodies to Leptospira spp. was 13.4% (95% CI 11.1% to 16.1%). Risk factors included: having wounds (OR 3.1; 95% CI 1.5 to 6.1); smoking (OR 1.8; 95% CI 1.1 to 2.9); eating at work (OR 2.1; 95% CI 1.2 to 3.6); cleaning the offal (OR 5.1; 95% CI 1.8 to 15.0); and having a borehole for personal water use (OR 2.3; 95% CI 1.1 to 4.7). At the slaughterhouse level, risk factors included having a roof (OR 2.6; 95% CI 1.2 to 5.6) and drawing water from a well (OR 2.2; 95% CI 1.2 to 4.0). Protective factors included working in slaughterhouses where antemortem inspection was conducted (OR 0.6; 95% CI 0.4 to 1.0) and where workers wore protective aprons (OR 0.4; 95% CI 0.2 to 0.7).

Conclusions

This is the first report of leptospirosis seropositivity in slaughterhouse workers in Kenya. Potential risk factors were identified and this information can be used to educate workers regarding their disease risks and ways to prevent or reduce transmission.

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Lifting and exertion injuries decrease after implementation of an integrated hospital-wide safe patient handling and mobilisation programme

Objective

With increasing emphasis on early and frequent mobilisation of patients in acute care, safe patient handling and mobilisation practices need to be integrated into these quality initiatives. We completed a programme evaluation of a safe patient handling and mobilisation programme within the context of a hospital-wide patient care improvement initiative that utilised a systems approach and integrated safe patient equipment and practices into patient care plans.

Methods

Baseline and 12-month follow-up surveys of 1832 direct patient care workers assessed work practices and self-reported pain while an integrated employee payroll and injury database provided recordable injury rates collected concurrently at 2 hospitals: the study hospital with the programme and a comparison hospital.

Results

Safe and unsafe patient handling practice scales at the study hospital improved significantly (p<0.0001 and p=0.0031, respectively), with no differences observed at the comparison hospital. We observed significant decreases in recordable neck and shoulder (Relative Risk (RR)=0.68, 95% CI 0.46 to 1.00), lifting and exertion (RR=0.73, 95% CI 0.60 to 0.89) and pain and inflammation (RR=0.78, 95% CI 0.62 to 1.00) injury rates at the study hospital. Changes in rates at the comparison hospital were not statistically significant.

Conclusions

Within the context of a patient mobilisation initiative, a safe patient handling and mobilisation programme was associated with improved work practices and a reduction in recordable worker injuries. This study demonstrates the potential impact of utilising a systems approach based on recommended best practices, including integration of these practices into the patient's plan for care.

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Work-related musculoskeletal disorders among construction workers in the United States from 1992 to 2014

Objectives

Examine trends and patterns of work-related musculoskeletal disorders (WMSDs) among construction workers in the USA, with an emphasis on older workers.

Methods

WMSDs were identified from the 1992–2014 Survey of Occupational Injuries and Illnesses (SOII), and employment was estimated from the Current Population Survey (CPS). Risk of WMSDs was measured by number of WMSDs per 10 000 full-time equivalent workers and stratified by major demographic and employment subgroups. Time series analysis was performed to examine the trend of WMSDs in construction.

Results

The number of WMSDs significantly dropped in the US construction industry, following the overall injury trends. However, the rate of WMSDs in construction remained higher than in all industries combined; the median days away from work increased from 8 days in 1992 to 13 days in 2014, and the proportion of WMSDs for construction workers aged 55 to 64 years almost doubled. By occupation, construction labourers had the largest number of WMSD cases, while helpers, heating and air-conditioning mechanics, cement masons and sheet metal workers had the highest rates of WMSDs. The major cause of WMSDs in construction was overexertion, and back injuries accounted for more than 40% of WMSDs among construction workers. The estimated wage loss for private wage-and-salary construction workers was $46 million in 2014.

Conclusions

Construction workers continue to face a higher risk of WMSDs. Ergonomic solutions that reduce overexertion—the primary exposure for WMSDs—should be adopted extensively at construction sites, particularly for workers with a higher risk of WMSDs.

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Underemployment and mental health: comparing fixed-effects and random-effects regression approaches in an Australian working population cohort

Objectives

Underemployment occurs when workers are available for more hours of work than offered. It is a serious problem in many Organisation for Economic Co-operation and Development (OECD) countries, and particularly in Australia, where it affects about 8% of the employed population. This paper seeks to answer the question: does an increase in underemployment have an influence on mental health?

Methods

The current paper uses data from an Australian cohort of working people (2001–2013) to investigate both within-person and between-person differences in mental health associated with being underemployed compared with being fully employed. The main exposure was underemployment (not underemployed, underemployed 1–5, 6–10, 11–20 and over 21 hours), and the outcome was the five-item Mental Health Inventory.

Results

Results suggest that stepwise declines in mental health are associated with an increasing number of hours underemployed. Results were stronger in the random-effects (11–20 hours =–1.53, 95% CI –2.03 to –1.03, p<0.001; 21 hours and over –2.24, 95% CI –3.06 to –1.43, p<0.001) than fixed-effects models (11–20 hours =–1.11, 95% CI –1.63 to –0.58, p<0.001; 21 hours and over –1.19, 95% CI –2.06 to –0.32, p=0.008). This likely reflects the fact that certain workers were more likely to suffer the negative effects of underemployment than others (eg, women, younger workers, workers in lower-skilled jobs and who were casually employed).

Conclusions

We suggest underemployment to be a target of future workplace prevention strategies.

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Comparison of competency priorities between UK occupational physicians and occupational health nurses

Objectives

The competencies required of occupational physicians (OPs) and occupational health nurses (OHNs) separately have been studied in various countries but little research has made direct comparisons between these two key occupational health (OH) professional groups. The aim of this study was to compare current competency priorities between UK OPs and OHNs.

Methods

A modified Delphi study conducted among professional organisations and networks of UK OPs and OHNs. This formed part of a larger Delphi, including international OPs. It was undertaken in two rounds (round 1—'rating', round 2—'ranking'), using a questionnaire based on available OH competency guidance, the literature, expert panel reviews and conference discussions.

Results

In each round (rating/ranking), 57/49 and 48/54 responses were received for OPs and OHNs respectively. The principle domain (PD) competency ranks were very highly correlated (Spearman's r=0.972) with the same PDs featuring in the top four and bottom three positions. OPs and OHNs ranked identically for the top two PDs (good clinical care and general principles of assessment and management of occupational hazards to health). Research methods was ranked lowest by both groups.

Conclusions

This study has observed a high level of agreement among UK OPs and OHNs on current competency priorities. The 'clinically focused' competency priorities likely reflect that although OH practice will broaden in response to various factors, traditional 'core' OH activities will still be required. These mutually identified priorities can serve to strengthen collaboration between these groups, develop joint education/training programmes and identify common professional development opportunities.

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Injuries Among School-aged Children of Immigrants

Abstract

In response to a dearth of research on injuries among children of immigrants, this study examined child injury rates by immigrant generation. We used generalized estimating equations and nationally representative data to estimate injury risk for school-aged children of immigrants of different generations compared to children of native, US-born parents. After controlling for multiple other factors including socioeconomic status, citizenship, and children's general health, both 1st and 2nd generation school-aged children had significantly lower odds of having injuries compared to children of natives. Additional analyses also found lower odds of injuries among 1st and 2nd generation children relative to children of natives that persisted in both lower- and higher-income families. The findings suggest that 1st and 2nd generation immigrant families possess factors that protect children from injury independent of socioeconomic status. Policy and program development would benefit from a clearer understanding of these protective factors.

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Traumatic multiple cervical spine injuries in a patient with osteopetrosis and its management

Abstract

Study design

Single case report.

Objective/purpose

To report multiple level fractures of cervical spine in a patient with osteopetrosis and its management.

Summary of background data

Osteopetrosis is a rare inherited condition characterized by defective remodeling resulting in hard and brittle bones with diffuse osteosclerosis. Fractures of spine are rare as compared to the common long bone fractures. We report a case of traumatic multiple level fractures of cervical spine in osteopetrosis and its management which has rarely been reported in the literature before, if any.

Methods

17-year-old boy presented with severe tenderness in neck and restricted range of motion following a trivial injury to the neck in swimming pool. The neurology was normal and he was diagnosed to have autosomal dominant osteopetrosis on evaluation. Imagining findings, clinical course and the method of treatment are discussed.

Results

Radiological evaluation revealed presence of multiple level fractures of cervical vertebrae with end plate sclerosis. Patient was managed with cervical skeletal traction in appropriate extension position for 6 weeks followed by hard cervical collar for another 6 weeks. Follow-up radiographs at 18 months and 2.5 years showed healed fractures with no residual instability or symptoms.

Conclusion

The case report discusses rare occurrence of multiple level fractures of cervical spine following trivial injury to the neck in a patient with osteopetrosis and its treatment with conservative management.

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The many facets of motor learning and their relevance for Parkinson's disease

Motor learning in Parkinson's disease (PD), defined as the ability to learn and refine skills, has been the subject of investigations and debate for more than two decades. In fact, studies have produced controversial results, as whether or not motor skill formation is impaired in PD. Confounding factors are many, starting from the use of a variety of tasks that tap into different cognitive and motor aspects to the influence of drugs and therapies used in PD. Another important problem in deciphering those results is the range of terminology used in defining the type of learning involved in the different motor tasks.

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Reproducibility, and sensitivity to motor unit loss in amyotrophic lateral sclerosis, of a novel MUNE method: MScanFit MUNE

Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disease characterized by a decline in upper and lower motor neurons and a corresponding denervation of muscle fibers. This leads to progressive paralysis with a fatal outcome within an average of 3 years after diagnosis of the disease. (Couratier et al., 2016)

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Mitochondrial DNA variants in colorectal carcinogenesis: Drivers or passengers?

Abstract

Introduction

Mitochondrial DNA alterations have widely been reported in many age-related degenerative diseases and tumors, including colorectal cancer. In the past few years, the discovery of inter-genomic crosstalk between nucleus and mitochondria has reinforced the role of mitochondrial DNA variants in perturbing this essential signaling pathway and thus indirectly targeting nuclear genes involved in tumorigenic and invasive phenotype.

Findings

Mitochondrial dysfunction is currently considered a crucial hallmark of carcinogenesis as well as a promising target for anticancer therapy. Mitochondrial DNA alterations include point mutations, deletions, inversions, and copy number variations, but numerous studies investigating their pathogenic role in cancer have provided inconsistent evidence. Furthermore, the biological impact of mitochondrial DNA variants may vary tremendously, depending on the proportion of mutant DNA molecules carried by the neoplastic cells (heteroplasmy).

Conclusions

In this review, we discuss the role of different type of mitochondrial DNA alterations in colorectal carcinogenesis and, in particular, we revisit the issue of whether they may be considered as causative driver or simply genuine passenger events. The advent of high-throughput techniques as well as the development of genetic and pharmaceutical interventions for the treatment of mitochondrial dysfunction in colorectal cancer are also explored.

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Eosin fluorescence: A diagnostic tool for quantification of liver injury

Publication date: Available online 9 April 2017
Source:Photodiagnosis and Photodynamic Therapy
Author(s): Hamid Ali, Safdar Ali, Maryam Mazhar, Amjad Ali, Azra Jahan, Abid Ali
Hepatitis is one of the most common life threatening diseases. The diagnosis is mainly based on biochemical analysis such as liver function test. However, histopathological evaluation of liver serves far better for more accurate final diagnosis. The goal of our study was to evaluate the eosin fluorescence pattern in CCl4-induced liver injury model compared with normal and different treatment groups. For this purpose, liver tissues were stained with H/E and examined under bright field microscope but the fluorescence microscopy of H/E stained slides provided an interesting fluorescence pattern and was quite helpful in identifying different structures. Interesting fluorescence patterns were obtained with FITC, Texas Red and Dual channel filter cubes that were quite helpful in identifying different morphological features of the liver. During the course of hepatic injury, liver cells undergo necrosis, apoptosis and overall cellular microenvironment is altered due to the modification of proteins and other intracellular molecules. Intensified eosin fluorescence was observed around the central vein of injured liver compared to normal indicating enhanced binding of eosin to the more exposed amino acid residues. To conclude, eosin fluorescence pattern varies with the health status of a tissue and can be used further for the diagnosis and quantification of severity of various liver diseases.

Graphical abstract

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Technological advances for improving adenoma detection rates: The changing face of colonoscopy

Worldwide colorectal cancer is the third commonest cancer. Over 90% follow an adenoma-to-cancer sequence over many years. Colonoscopy is the gold standard method for cancer screening and early adenoma detection. However, considerable variation exists between endoscopists' detection rates. This review considers the effects of different endoscopic techniques on adenoma detection. Two areas of technological interest were considered: (1) optical technologies and (2) mechanical technologies. Optical solutions, including FICE, NBI, i-SCAN and high definition colonoscopy showed mixed results.

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Intraoperative real-time assessment of blood flow using indocyanine green angiography after anastomoses in free-flap reconstructions

Indocyanine green (ICG) is a cyanine dye generally used in liver function tests. It emits near-infrared fluorescence, and can be detected in the body by specific charged-coupled device cameras.1 This technique, called ICG angiography, allows real-time imaging of the bloodstream. In reconstructive surgery ICG angiography can confirm the presence of penetrating vessel branches, particularly in flaps for breast reconstruction, and evaluation of the bloodstream during kidney transplantation.2,3 However, we know of only one report of its use in free flaps in head and neck surgery.

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Potential of autogenous or fresh-frozen allogeneic bone block grafts for bone remodelling: a histological, histometrical, and immunohistochemical analysis in rabbits

Our aim was to compare the wound healing of autogenous bone grafts with that of fresh-frozen allogeneic block bone in rabbits. We used 25 animals. One was killed before the experiment to provide the allogeneic bone, and the remainder were killed at four time points (n=6 in each group). On histometrical analysis there was a significant difference between the two groups only at 45days and between 15 and 45days in the intergroup analysis. However, there was significantly more revascularisation (p<0.05), resorption (p<0.05), and bony replacement (p<0.05) in the autogenous group in the immunohistochemical analysis.

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Airway management includes reporting unsafe practices

Procedures/devices that ensure an open pathway for gas exchange between a patient's lungs and the atmosphere

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Primary pigmented nodular adrenocortical disease: literature review and case report of a 6-year-old boy

Journal Name: Journal of Pediatric Endocrinology and Metabolism
Issue: Ahead of print

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Airway management includes reporting unsafe practices

"Pre-hospital airway management is a key component of emergency responders and remains an important task of Emergency Medical Service (EMS) systems worldwide." Jacobs & Grabinsky. "Advances in pre-hospital airway management." International Journal of Critical Illness & Injury Science, 2014 Scenario: An EMS crew, which includes a new paramedic, responds to a call of a patient ...

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Airway management includes reporting unsafe practices

Age-dependent development of left ventricular wall thickness in type 2 diabetic ( db / db ) mice is associated with elevated low-density lipoprotein and triglyceride serum levels

Abstract

Diabetic cardiomyopathy (DCM) is a disease of heart muscle that remains one of the leading causes of death in diabetic individuals. Shifts in substrate preference resulting in aberrant serum lipid content and enlarged left ventricular wall thickness are well-established characteristics associated with the development of DCM. As underlying mechanisms driving the onset of the DCM remain relatively unclear, this study sought to characterize age-dependent development of left ventricular (LV) wall thickness in diabetic (db/db) mice. Such data were compared with low-density lipoprotein (LDL) and triglyceride serum levels to assess whether any correlation exists between the parameters here investigated. For methods, db/db mice together with nondiabetic controls (n = six per group) were monitored from the age of 6–16 weeks. Mice were terminated each week to measure body weights, heart weights, liver weights, tibia length, and fasting plasma glucose levels. Heart tissues were stained with haematoxylin and eosin to measure LV wall and interventricular septum thickness together with an assessment of myocardial remodeling. Serum was collected weekly and used to measure LDL and triglyceride levels. Results showed that db/db mice presented significantly increased body weights, liver/body weight, and fasting plasma glucose levels from the age of 6–16 weeks. They further displayed a marked enlargement of LV wall and interventricular septum thickness from the age of 11 weeks, while increased heart weight/tibia length was recorded only from week 16. From week 11, the LV wall and interventricular septum thickness results corresponded with cardiac remodeling and raised LDL and triglyceride serum levels. In summary, age-dependent development of LV wall thickness in db/db mice is partially associated with increased LDL and triglyceride levels, elucidating a potential pathophysiological mechanism.

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Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

Abstract

Pathogenic variants in genes encoding subunits of the spliceosome are the cause of several human diseases, such as neurodegenerative diseases. The RNA splicing process is facilitated by the spliceosome, a large RNA–protein complex consisting of small nuclear ribonucleoproteins (snRNPs), and many other proteins, such as heterogeneous nuclear ribonucleoproteins (hnRNPs). The HNRNPU gene (OMIM *602869) encodes the heterogeneous nuclear ribonucleoprotein U, which plays a crucial role in mammalian development. HNRNPU is expressed in the fetal brain and adult heart, kidney, liver, brain, and cerebellum. Microdeletions in the 1q44 region encompassing HNRNPU have been described in patients with intellectual disability (ID) and other clinical features, such as seizures, corpus callosum abnormalities (CCA), and microcephaly. Recently, pathogenic HNRNPU variants were identified in large ID and epileptic encephalopathy cohorts. In this study, we provide detailed clinical information of five novels and review two of the previously published individuals with (likely) pathogenic de novo variants in the HNRNPU gene including three non-sense and two missense variants, one small intragenic deletion, and one duplication. The phenotype in individuals with variants in HNRNPU is characterized by early onset seizures (6/7), severe ID (6/6), severe speech impairment (6/6), hypotonia (6/7), and central nervous system (CNS) (5/6), cardiac (4/6), and renal abnormalities (3/4). In this study, we broaden the clinical and mutational HNRNPU-associated spectrum, and demonstrate that heterozygous HNRNPU variants cause epilepsy, severe ID with striking speech impairment and variable CNS, cardiac, and renal anomalies.

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Analysis of implantation and ongoing pregnancy rates following the transfer of mosaic diploid–aneuploid blastocysts

Abstract

Preimplantation genetic testing for aneuploidy (PGT-A) is widely used in IVF and aims to improve outcomes by avoiding aneuploid embryo transfers. Chromosomal mosaicism is extremely common in early development and could affect the efficacy of PGT-A by causing incorrect embryo classification. Recent innovations have allowed accurate mosaicism detection in trophectoderm samples taken from blastocysts. However, there is little data concerning the impact of mosaicism on viability, and the optimal clinical pathway for such embryos is unclear. This study provides new information concerning the extent to which mosaic preimplantation embryos are capable of producing pregnancies and births. Archived trophectoderm biopsy specimens from transferred blastocysts were analyzed using next generation sequencing (NGS). Unlike other PGT-A methods, NGS accurately detects mosaicism in embryo biopsies. 44 mosaic blastocysts were identified. Their clinical outcomes were compared to 51 euploid blastocysts, derived from a well-matched, contemporary control group. Mosaic embryos were associated with outcomes that were significantly poorer than those of the control group: implantation 30.1 versus 55.8% (P = 0.038); miscarriage rate 55.6 versus 17.2% (P = 0.036); and ongoing pregnancy 15.4 versus 46.2% (P = 0.003). 61% of the mosaic errors affected whole chromosomes and 39% were segmental aneuploidies. Embryo viability is compromised by the presence of aneuploid cells. However, a minority of affected embryos can produce successful pregnancies. Hence, such embryos should not necessarily be excluded, but given a lower priority for transfer than those that are fully euploid. It is recommended that pregnancies established after mosaic embryo transfers be subjected to prenatal testing, with appropriate patient counselling.

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Laparoscopic Colorectal Surgery for Cancer: What Is the Role of Complete Mesocolic Excision and Splenic Flexure Mobilization?

Abstract

Laparoscopic colorectal surgery for cancer is nowadays routinely performed worldwide. After the introduction by Heald of total mesorectal excision for rectal cancer, also a complete mesocolic excision has been advocated as an essential surgical step to improve oncologic results in patients with colon cancer. The complete removal of mesocolon with high ligation of the main mesenteric arteries and veins and the mobilization of splenic flexure are well-known but still debated in western surgical society. The authors reviewed the literature and outlined the rationale and the results of splenic flexure mobilization and complete mesocolic excision in laparoscopic surgery for colorectal cancer.

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LERLIC-MS/MS for In-depth Characterization and Quantification of Glutamine and Asparagine Deamidation in Shotgun Proteomics

Here we present a step-by-step protocol of the long-length electrostatic repulsion-hydrophilic interaction chromatography-tandem mass spectrometry (LERLIC-MS/MS) method. This is a novel methodology that enables for the first time quantification and characterization of the glutamine and asparagine deamidation isoforms by shotgun proteomics.

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Αρχειοθήκη ιστολογίου

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Κυριακή 9 Απριλίου 2017

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