Αρχειοθήκη ιστολογίου

Τετάρτη 23 Δεκεμβρίου 2015

Evaluation of weight-adjusted doses of palonosetron for prevention of postoperative nausea and vomiting in day care laparoscopic gynaecological surgery: A dose ranging, randomised controlled trial

imageBACKGROUND: Palonosetron 75 mcg is being used for the prevention of postoperative nausea and vomiting. However, weight-adjusted doses in laparoscopic surgery are unevaluated. AIM: To determine the response to three doses of palonosetron (0.5, 1.0, or 1.5 mcg kg−1) over 72 h in the postoperative period in women undergoing laparoscopic gynaecological procedures. DESIGN: A randomised dose–response study. SETTING: A tertiary care hospital and research institute in north India from July to December 2014. PATIENTS: American society of Anesthesiologists physical status I and II women, from 18 to 60 years old, undergoing laparoscopic gynaecological procedures on a day care basis. METHODS: Patients were randomised to receive palonosetron 0.5, 1 and 1.5 mcg kg−1 intravenously before induction of anaesthesia. MAIN OUTCOMES MEASURES: The primary outcome was the proportion of patients with a complete response (i.e. who neither vomited nor required additional antiemetic drugs for nausea during the first 72 postoperative hours). The proportion of patients having nausea or emetic episodes and the requirement for rescue antiemetics and analgesics during the 72-h period were recorded as secondary outcomes. RESULTS: With palonosetron, there was a significant dose-dependent increase (37.5 vs. 67.5 vs. 75%, P 

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Reply to: zero-heat flux thermometry

imageNo abstract available

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Gradient between dorsalis pedis and radial arterial blood pressures during sevoflurane anaesthesia: A self-control study in patients undergoing neurosurgery

imageBACKGROUND: The dorsalis pedis artery (DPA) is a good alternative to the radial artery (RA) for invasive blood pressure monitoring when the upper limb is burned or injured, or if the RA is not available. Understanding the pattern of pressure difference between DPA and the commonly used RA during inhalational anaesthesia is helpful for haemodynamic management and therapeutic decisions. OBJECTIVES: The objective of this study was to investigate the time-dependent variation of DPA-to-RA pressure gradient during sevoflurane anaesthesia and the overall difference between the two pressures during neurosurgery, together with the causes of the pressure gradient change. DESIGN: A prospective, self-control, single-centre study. SETTING: The operating room of a teaching hospital from 1 January 2013 to 1 September 2013. PATIENTS: Thirty-seven patients between 18 and 60 years of age, American Society of Anesthesiologists' physical status 1–3, scheduled for neurosurgery in the supine position and requiring invasive arterial pressure monitoring. MAIN OUTCOME MEASURES: The time-dependent change of DPA-to-RA pressure gradient and skin temperature gradient, the difference between absolute values and average values of SBP, DBP and mean blood pressure (MBP) between RA and DPA during surgery, and the internal cross-sections and systolic blood flow velocities of RA and DPA at the baseline and at the end of surgery. RESULTS: Data from 30 patients were analysed. The mean ± standard deviation DPA-to-RA pressure gradient gradually decreased with time from 9.7 ± 8.8 to −1.8 ± 7.6 mmHg for systolic pressure, −2.3 ± 2.7 to −3.7 ± 2.8 mmHg for diastolic pressure and −2.1 ± 3.2 to −5.4 ± 3.4 mmHg for MBP. Biases during the entire procedure were 2.2 ± 10.1, −3.1 ± 3.4 and −4.3 ± 4.2 mmHg for SBP, DBP and MBP, respectively. The DPA-to-RA skin temperature gradient gradually reduced from −3.6 ± 2.4 to −1.1 ± 1.3°C. A greater increase in the inner cross-sectional area and blood flow from the baseline was observed at DPA compared with RA. CONCLUSION: The blood pressure, temperature and inner cross-sectional area differences between DPA and RA reduced gradually during sevoflurane anaesthesia in patients undergoing neurosurgery. Therapeutic decisions may rely on DPA pressure as long as the anaesthetists are aware of the pattern of change in DPA pressure during surgery. TRIAL REGISTRATION: www.chictr.org with registry number ChiCTR-RNRC-13003853.

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Reply to: preoxygenation by spontaneous breathing or noninvasive positive pressure ventilation with and without positive end-expiratory pressure

No abstract available

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Ground-state energy of spin polarized two-dimensional electron gas in the presence of impurity scattering

Abstract

In the present work we study the spin polarization effects on the ground-state energy of an interacting two-dimensional electron gas in the presence of disorder scattering (impurity scattering) at arbitrarily spin polarization for various electron densities. For this purpose we employ the modified density-density correlation function at small values of wave-vector and frequency in the framework of linear response theory to calculate the exchange, correlation and ground-state energy for a spin polarized two-dimensional disordered electron gas. Our results show that the effect of spin polarization on the exchange, correlation and ground-state energy becomes considerable at high densities. We also conclude that the two-dimensional disordered electron system becomes unstable by increasing the spin polarization degree.



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Improving patient outcomes through multidisciplinary treatment planning conference.

Improving patient outcomes through multidisciplinary treatment planning conference.

Head Neck. 2015 Dec 22;

Authors: Lewis CM, Nurgalieva Z, Sturgis EM, Lai SY, Weber RS

Abstract
BACKGROUND: The purpose of this study was for us to determine National Comprehensive Cancer Network (NCCN) guideline-compliance of multidisciplinary conference (MDC) recommendations and actual treatment received, and to determine this impact on patient outcomes.
METHODS: We conducted a retrospective review of patients presented at MDC between January 1, 2006, and December 31, 2006, with previously untreated incident cancers.
RESULTS: We identified 232 patients, for whom MDC recommendations were NCCN guideline-compliant in 201 (86.6%). Actual treatment was NCCN guideline-compliant in 170 of 197 patients (86.3%). Adherence of MDC recommendations to NCCN guidelines was associated with superior overall survival (hazard ratio [HR] = 0.69; 95% confidence interval [CI] = 0.33-1.39; p = .3), as was guideline-compliance of actual treatment (HR = 0.6; 95% CI = 0.64-1.07; p = .07); congruence between MDC recommendations and actual treatment conferred a statistically significant overall survival benefit (HR = 0.49; 95% CI = 0.27-0.89; p = .02).
CONCLUSION: Our findings argue for patient-centered application of NCCN guidelines. Prospective evaluation will enable more timely identification of systematic NCCN guideline deviations that quality improvement interventions may address. © 2015 Wiley Periodicals, Inc. Head Neck, 2015.

PMID: 26690552 [PubMed - as supplied by publisher]



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Minimizing revision rates with the "Π" technique for bilateral vocal fold immobility: A new technique combining carbon dioxide and diode laser.

Minimizing revision rates with the "Π" technique for bilateral vocal fold immobility: A new technique combining carbon dioxide and diode laser.

Head Neck. 2015 Dec 22;

Authors: Karkos PD, Stavrakas M

Abstract
BACKGROUND: For more than 25 years, posterior laser transverse cordotomy has been generally considered the ideal endoscopic minimally invasive procedure of choice for bilateral vocal fold immobility. The main drawback of this procedure, when compared to more aggressive "glottic aperture improvement" operations, is the high revision rates, caused by granulations, adhesion, and scar, for example.
METHODS: We describe a technique using a combination of conventional and flexible lasers. Our technique seems to minimize the revision rates.
CONCLUSION: This new technique combining CO2 and diode laser is a safe alternative for treating bilateral vocal fold palsies. © 2015 Wiley Periodicals, Inc. Head Neck, 2015.

PMID: 26690298 [PubMed - as supplied by publisher]



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ABCLOVE: Voice therapy outcomes for patients with head and neck cancer.

ABCLOVE: Voice therapy outcomes for patients with head and neck cancer.

Head Neck. 2015 Dec 22;

Authors: Ouyoung LM, Swanson MS, Villegas BC, Damodar D, Kokot N, Sinha UK

Abstract
BACKGROUND: Dysphonia related to head and neck cancer is unique, and demands treatment tailored to its unique pathology. Activate exercises, breathing, counseling, laryngeal manipulation, oral resonance, vocal exercises, and elimination of habits (ABCLOVE) is an 8-week multimodality voice therapy program addressing vocal rehabilitation specifically for patients with head and neck cancer.
METHODS: Twenty-nine patients with a history of head and neck cancer were enrolled in the ABCLOVE program and outcomes were retrospectively reviewed. Relative average pertubation, maximum phonation time (MPT), pitch range, Consensus Auditory Perceptual Evaluation of Voice (CAPE-V), and Voice Handicap Index (VHI) were assessed.
RESULTS: The pretreatment and posttreatment improvements in the relative average pertubation (1.86 vs 0.92), MPT (10.53 seconds vs 15.17 seconds), VHI (51.7 vs 29.9), and pitch range (168 Hz vs 244 Hz) were statistically significant (p < .0001). The subjective CAPE-V ratings improved in all but 2 patients.
CONCLUSION: The ABCLOVE voice program provides clinicians with an effective and reproducible method for voice rehabilitation in patients with head and neck cancer. © 2015 Wiley Periodicals, Inc. Head Neck, 2015.

PMID: 26689974 [PubMed - as supplied by publisher]



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Teeth in Rare Locations with Rare Complications: An Overview.

Teeth in Rare Locations with Rare Complications: An Overview.

Indian J Otolaryngol Head Neck Surg. 2015 Dec;67(4):438-43

Authors: Dhingra S, Gulati A

Abstract
Ectopic presence of teeth within the dentate region is common in clinical practice. However, the presence of teeth in non-dentate areas such as the nasal cavity or the maxillary sinus is rare. These may remain asymptomatic for years, may be misdiagnosed as foreign bodies, or may present with some serious complications involving the nose and paranasal sinuses. Complications such as nasal obstruction, epistaxis, headaches, rhinolith formation, epiphora, sinusitis and oro-antral fistula have been well described in literature, however, very few cases of antro-cutaneous fistulas have been reported. We discuss three cases of ectopic eruptions of teeth, all occurring in children. The clinical and radiographic findings of the cases, possible etiology, complication, diagnosis and treatment are discussed.

PMID: 26693467 [PubMed]



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Capillary Haemangioma: A Rare Vascular Tumour of the External Auditory Canal.

Capillary Haemangioma: A Rare Vascular Tumour of the External Auditory Canal.

Indian J Otolaryngol Head Neck Surg. 2015 Dec;67(4):417-21

Authors: Varshney S, Malhotra M, Kaur N, Gairola P

Abstract
Haemangiomas are relatively common in the head and neck region, but cases in the temporal bone are rare. Hemangioma of the external auditory canal (EAC) is a rare otologic entity. Up till now (till 2013), only 18 cases of hemangioma EAC have been reported in the English literature. It is commonly classified as capillary or cavernous hemangioma. According to the literature, this case represents the fourth patient with capillary hemangioma of the EAC. A 22-year-old male presented to our department with a 3 years history of right-sided aural fullness, mild pain and decreased hearing. There was no history of ear discharge, pulsatile tinnitus, vertigo and local trauma. Oto-microscopic and otoendoscopic examination revealed a smooth surface, reddish pulsatile mass arising from the right postero-superior portion of bony canal wall, which measured about 1 cm in diameter, obstructing 2/3rd of the EAC. The tympanic membrane was not seen. No facial nerve dysfunction was observed. Patient had moderate conductive hearing loss in right ear on audiology. HRCT temporal bone showed soft tissue mass involving the right EAC and middle ear. The lesion was excised via a postaural approach under general anesthesia. The tumor was a reddish, soft mass and measured 1.6 × 1.7 × 2.8 cm. The histopathologic assessment indicated a capillary hemangioma.

PMID: 26693462 [PubMed]



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Otolaryngologic Manifestations of Various Rheumatic Diseases: Awareness and Practice Among Otolaryngologists.

Otolaryngologic Manifestations of Various Rheumatic Diseases: Awareness and Practice Among Otolaryngologists.

Indian J Otolaryngol Head Neck Surg. 2015 Dec;67(4):366-9

Authors: Gera C, Kumar N

Abstract
Wegener's granulomatosis, Sarcoidosis, Sjögren's Syndrome, Behçet disease, Systemic lupus erythematosus, relapsing polychondritis, Churg-Strauss syndrome and Cogan syndromes are rheumatic diseases commonly encountered by otolaryngologists. The present study was designed to assess the understanding and practice about various ENT problems of rheumatic diseases amongst otolaryngologists. A group of 29 otolaryngologists was asked to fill questionnaire which was based on knowledge and practice of otolaryngologists about various otolaryngologic manifestations of rheumatic diseases. Chronic sinusitis was most frequently seen followed by recurrent oral ulcers while spontaneous septal perforation was most infrequently seen symptom by participants. Otolaryngologists showed high index of suspicion and confidence for Wegener's granulomatosis in comparison to other rheumatic diseases. There was no difference noted in practice of otolaryngologists of tertiary care centers and other practitioners. Eighty two percent of participants felt, they were not adequately trained about these diseases. Most of them (93 %) felt that knowledge of such diseases is also necessary for post graduate training in Otolaryngology. Though otolaryngologists are aware of otolaryngologic manifestations of Rheumatic diseases but their index of suspicion, practical implication of knowledge and confidence for evaluation of such diseases is low. Educational sector should define a better medical curriculum for training in Otorhinolaryngology, head and neck surgery.

PMID: 26693453 [PubMed]



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Usefulness of Curved-Shaft Needles for Infiltrating the Sphenopalatine Area.

Usefulness of Curved-Shaft Needles for Infiltrating the Sphenopalatine Area.

Indian J Otolaryngol Head Neck Surg. 2015 Dec;67(4):329-32

Authors: Choi SY, Lee HY, Choi MS

Abstract
The objective of this study is to evaluate what types of needles are optimal and efficient for infiltrating the sphenopalatine area during endoscopic sinus surgery. Prospective, randomized, open-labeled study was designed. Sixty-three sides of nasal cavities of 45 patients were randomly assigned to three groups with different needle shapes. The group 1 needles had a straight shaft, the group 2 had an obtuse curved shaft, and the group 3 had an arch-shape shaft. The infiltration time for group 1 was longer than that for group 2 and group 3. There was significant difference in the secondary infiltration time between group 1 and group 3 (p = 0.005). We devised new curved-shaft needles that can utilize the 'lever effect' and showed that they are more efficient than straight shaft needles for infiltrating the sphenopalatine area.

PMID: 26693446 [PubMed]



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Neural correlates of abnormal sensory discrimination in laryngeal dystonia.

Neural correlates of abnormal sensory discrimination in laryngeal dystonia.

Neuroimage Clin. 2016;10:18-26

Authors: Termsarasab P, Ramdhani RA, Battistella G, Rubien-Thomas E, Choy M, Farwell IM, Velickovic M, Blitzer A, Frucht SJ, Reilly RB, Hutchinson M, Ozelius LJ, Simonyan K

Abstract
Aberrant sensory processing plays a fundamental role in the pathophysiology of dystonia; however, its underpinning neural mechanisms in relation to dystonia phenotype and genotype remain unclear. We examined temporal and spatial discrimination thresholds in patients with isolated laryngeal form of dystonia (LD), who exhibited different clinical phenotypes (adductor vs. abductor forms) and potentially different genotypes (sporadic vs. familial forms). We correlated our behavioral findings with the brain gray matter volume and functional activity during resting and symptomatic speech production. We found that temporal but not spatial discrimination was significantly altered across all forms of LD, with higher frequency of abnormalities seen in familial than sporadic patients. Common neural correlates of abnormal temporal discrimination across all forms were found with structural and functional changes in the middle frontal and primary somatosensory cortices. In addition, patients with familial LD had greater cerebellar involvement in processing of altered temporal discrimination, whereas sporadic LD patients had greater recruitment of the putamen and sensorimotor cortex. Based on the clinical phenotype, adductor form-specific correlations between abnormal discrimination and brain changes were found in the frontal cortex, whereas abductor form-specific correlations were observed in the cerebellum and putamen. Our behavioral and neuroimaging findings outline the relationship of abnormal sensory discrimination with the phenotype and genotype of isolated LD, suggesting the presence of potentially divergent pathophysiological pathways underlying different manifestations of this disorder.

PMID: 26693398 [PubMed - in process]



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En bloc resection of a C2-C3 upper cervical chordoma: Technical note.

En bloc resection of a C2-C3 upper cervical chordoma: Technical note.

Surg Neurol Int. 2015;6(Suppl 24):S615-8

Authors: Weil AG, Shehadeh M, Ayad T, Abboud O, Shedid D

Abstract
BACKGROUND: Recently, en bloc spondylectomy for upper cervical chordomas has been reported. Most authors utilize the combined approaches (e.g., transoral tumor resection with anterior column reconstruction and primary pharyngeal closure without up-front flap repair). However, the 60% incidence of posterior pharyngeal wall dehiscence delays oral intake, typically requires an additional surgery (e.g. free-flap), and delays radiation therapy.
METHODS: Here, we demonstrate the efficacy of en bloc C2-C3 spondylectomy for the treatment of upper cervical chordomas utilizing a combined transoral followed by posterior approach. We used a novel anterior de-epithelialized submental island flap (SIF) as an underlay graft between the pharyngeal wall and cage/hardware to prevent pharyngeal wound dehiscence.
RESULTS: Despite a small pharyngeal fistula, the construct healed and the patient was disease-free 40 months later.
CONCLUSION: En bloc C2-C3 spondylectomy for the treatment of an upper cervical chordoma typically requires a combined transoral and posterior approaches. This required utilization of an anterior SIF to promote adequate wound healing. This maneuver avoided incurring the typical complications of combined approaches (e.g. transoral tumor resection with anterior column reconstruction and primary pharyngeal closure without up-front flap repair).

PMID: 26693391 [PubMed]



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Surgical Management of Recurrent Tracheocarotid Fistula following Endovascular Stent Placement.

Surgical Management of Recurrent Tracheocarotid Fistula following Endovascular Stent Placement.

Case Rep Otolaryngol. 2015;2015:547248

Authors: Steitz JT, Cappello ZJ, Katrib Z, Tennant PA

Abstract
We report the case of a 25-year-old woman who developed a tracheocarotid fistula secondary to an infected endovascular stent placed in the right carotid artery after the patient experienced hemorrhage on her first tracheostomy change. The patient originally had the tracheostomy placed at an outside hospital in September 2014, due to prolonged intubation after a motor vehicle accident. The patient presented to the otolaryngology service with an acute tracheal hemorrhage. This necessitated a neck exploration, median sternotomy, right carotid stent removal with subclavian to carotid bypass, and sternocleidomastoid flap reconstruction. This paper addresses the epidemiology and anatomy of a tracheocarotid fistula and discusses methods to treat such a complication.

PMID: 26693370 [PubMed]



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What Are the Trends in Tonsillectomy Techniques in Wales? A Prospective Observational Study of 19,195 Tonsillectomies over a 10-Year Period.

What Are the Trends in Tonsillectomy Techniques in Wales? A Prospective Observational Study of 19,195 Tonsillectomies over a 10-Year Period.

Int J Otolaryngol. 2015;2015:747403

Authors: Walijee H, Al-Hussaini A, Harris A, Owens D

Abstract
There are a multitude of techniques to undertake tonsillectomy, with hot techniques such as diathermy and coblation being associated with a higher risk of secondary haemorrhage. The UK National Prospective Tonsillectomy Audit (2004) advocated cold steel dissection and ties to be the gold standard. This prospective observational study investigates the trends in tonsillectomy techniques across Wales in the last decade to establish if surgeons have adhered to this national guidance. Data relating to tonsillectomy were extracted over a 10-year period from 1 January 2003 to 31 December 2012 from the Wales Surgical Instrument Surveillance Programme database. A total of 19,195 patients were included. Time-series analysis using linear regression showed there was an increase in the number of bipolar diathermy tonsillectomies by 84% (Pearson's r = 0.762, p = 0.010) and coblation tonsillectomies by 120% (r = 0.825, p = 0.003). In contrast, there was a fall in the number of cold steel dissection tonsillectomies with ties by 60% (r = -0.939, p < 0.001). This observational study suggests that the use of bipolar and coblation techniques for tonsillectomy has increased. This deviation from national guidance may be due to these techniques being faster with less intraoperative bleeding. Further study for the underlying reasons for the increase in these techniques is warranted.

PMID: 26693228 [PubMed]



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Human papillomavirus 16 (HPV16) enhances tumor growth and cancer stemness of HPV-negative oral/oropharyngeal squamous cell carcinoma cells via miR-181 regulation.

Human papillomavirus 16 (HPV16) enhances tumor growth and cancer stemness of HPV-negative oral/oropharyngeal squamous cell carcinoma cells via miR-181 regulation.

Papillomavirus Res. 2015 Dec 1;1:116-125

Authors: Lee SH, Lee CR, Rigas NK, Kim RH, Kang MK, Park NH, Shin KH

Abstract
High-risk human papillomaviruses (e.g., HPV16, HPV18) are closely associated with the development of head and neck cancers including oral/oropharyngeal squamous cell carcinoma (OSCC). We previously demonstrated immortalization of normal human oral keratinocytes by introducing high-risk HPV whole genome, suggesting that HPV infection plays an important role in the early stage of oral carcinogenesis. Although HPV infection may occur in different stages of cancer development, roles of HPV in exacerbating malignant phenotypes in already-transformed cells in the context of cancer stemness are not clearly defined. In this study, we investigated the role of HPV16 in promoting the virulence of HPV-negative OSCC. Introducing HPV16 whole genome in HPV-negative OSCC increased malignant growth and self-renewal capacity, a key characteristic of cancer stem cells (CSCs). HPV16 also enhanced other CSC properties, including aldehyde dehydrogenase 1 (ALDH1) activity, migration/invasion, and CSC-related factor expression. Mechanistically, we found that HPV16 inhibited the expression of miR-181a and miR-181d (miR-181a/d) at the transcriptional level. Ectopic expression of miR-181a/d decreased anchorage independent growth and CSC phenotype of HPV16-transfected OSCC. Furthermore, silencing of miR-181a/d target genes, i.e., K-ras and ALDH1, abrogated the effects of HPV16 in HPV16-transfected OSCC, supporting the functional importance of HPV16/miR-181a/d axis in HPV-mediated oral carcinogenesis. Our study suggests that high-risk HPV infection further promotes malignancy in HPV-negative OSCC by enhancing cancer stemness via miR-181a/d regulation. Consequently, miR-181a/d may represent a novel therapeutic agent for the treatment of HPV-positive OSCC.

PMID: 26693182 [PubMed - as supplied by publisher]



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Expression pattern of FGFR2, Grb2 and Plcγ1 acts as a novel prognostic marker of recurrence recurrence-free survival in lung adenocarcinoma.

Expression pattern of FGFR2, Grb2 and Plcγ1 acts as a novel prognostic marker of recurrence recurrence-free survival in lung adenocarcinoma.

Am J Cancer Res. 2015;5(10):3135-48

Authors: Timsah Z, Berrout J, Suraokar M, Behrens C, Song J, Lee JJ, Ivan C, Gagea M, Shires M, Hu X, Vallien C, Kingsley CV, Wistuba I, Ladbury JE

Abstract
Lung adenocarcinoma is characterized by complex biology involving alterations at the genomic and protein expression levels. FGFR2 mutation and/or amplification are key drivers of disease progression and drug resistance in lung adenocarcinoma patients. These genetic alterations drive oncogenic downstream signalling due to the deregulated activity of the receptor. We have previously reported that wild type FGFR2 provides a binding site for which two proteins, Grb2 and Plcγ1, compete in a concentration-dependent manner. Metastasis and invasion ensue when Plcγ1 prevails on the receptor giving rise to oncogenic outcome in the absence of gene mutation/deletion. The effect of this signalling mechanism on FGFR2-driven lung adenocarcinoma has not previously been considered. In this study we show that fluctuation in the combinatorial expression levels of FGFR2, Grb2 and Plcγ1 modulates cell invasive properties, tumor formation and is linked to recurrence-free survival in 150 lung adenocarcinoma patients. High levels of expression of FGFR2 and Plcγ1 in a low background of Grb2 significantly correlates with poor prognosis. On the other hand, low levels of expression of FGFR2 and Plcγ1 in a high background of Grb2 correlates with favourable prognosis. This study defines the expression pattern of FGFR2, Plcγ1 and Grb2 as a novel prognostic marker in human lung adenocarcinoma. Thus, consideration of the Grb2 and Plcγ1-mediated mechanism of FGFR2 regulation will enhance the therapeutic targeting of aberrant FGFR2 activity to provide the much-needed improvement to the treatment regimen of this high mortality disease.

PMID: 26693065 [PubMed]



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IKK phosphorylation of NF-κB at serine 536 contributes to acquired cisplatin resistance in head and neck squamous cell cancer.

IKK phosphorylation of NF-κB at serine 536 contributes to acquired cisplatin resistance in head and neck squamous cell cancer.

Am J Cancer Res. 2015;5(10):3098-110

Authors: Li Z, Yang Z, Lapidus RG, Liu X, Cullen KJ, Dan HC

Abstract
Current treatment methods for advanced head and neck squamous cell carcinoma (HNSCC) include surgery, radiation therapy and chemotherapy. For recurrent and metastatic HNSCC, cisplatin is the most common treatment option, but most of patients will eventually develop cisplatin resistance. Therefore, it is imperative to define the mechanisms involved in cisplatin resistance and find novel therapeutic strategies to overcome this deadly disease. In order to determine the role of nuclear factor-kappa B (NF-κB) in contributing to acquired cisplatin resistance in HNSCC, the expression and activity of NF-κB and its upstream kinases, IKKα and IKKβ, were evaluated and compared in three pairs of cisplatin sensitive and resistant HNSCC cell lines, including a pair of patient derived HNSCC cell line. The experiments revealed that NF-κB p65 activity was elevated in cisplatin resistant HNSCC cells compared to that in their parent cells. Importantly, the phosphorylation of NF-κB p65 at serine 536 and the phosphorylation of IKKα and IKKβ at their activation loops were dramatically elevated in the resistant cell lines. Furthermore, knockdown of NF-κB or overexpression of p65-S536 alanine (p65-S536A) mutant sensitizes resistant cells to cisplatin. Additionally, the novel IKKβ inhibitor CmpdA has been shown to consistently block the phosphorylation of NF-κB at serine 536 while also dramatically improving the efficacy of cisplatin in inhibition of cell proliferation and induction of apoptosis in the cisplatin resistant cancer cells. These results indicated that IKK/NF-κB plays a pivotal role in controlling acquired cisplatin resistance and that targeting the IKK/NF-κB signaling pathway may provide a possible therapeutic method to overcome the acquired resistance to cisplatin in HNSCC.

PMID: 26693062 [PubMed]



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Deregulation of paralogous 13 HOX genes in oral squamous cell carcinoma.

Deregulation of paralogous 13 HOX genes in oral squamous cell carcinoma.

Am J Cancer Res. 2015;5(10):3042-55

Authors: Aquino G, Franco R, Sabatino R, Mantia EL, Scognamiglio G, Collina F, Longo F, Ionna F, Losito NS, Liguori G, Botti G, Cantile M

Abstract
Many oncogenic drivers related to the pathogenesis of OSCC have identified, but the discovery of new molecular markers for early detection of this cancer, remains one the main goals of clinical research. HOX genes regulate normal embryonic development, cell differentiation and other critical processes in eukaryotic cell life. Several studies have demonstrated that the deregulation of HOX genes play a significant role in cancer development and progression. In this study, we built a prognostic TMA with 119 OSCC samples, representative of deep and superficial part of the tumour, to investigate, the paralogous 13 HOX proteins expression, correlating them with clinicpathological parameters, outcomes and therapy information. Our results show an aberrant expression of HOX A13 and HOX D13 in OSCC pathogenesis and tumour progression. HOX A13 overexpression is related to an OSCC better prognosis (P=0.029) and better therapy response in patients treated with both radiotherapy and chemotherapy (P=0.015). HOX D13 overexpression is inversely related to an overall survival (P=0.004). These data highlight the potential prognostic role of HOX paralogous group 13 genes in OSCC.

PMID: 26693058 [PubMed]



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Dysphagia due to oesophageal obstruction: A case report of unusual occupational aetiology.

Dysphagia due to oesophageal obstruction: A case report of unusual occupational aetiology.

Ann Med Surg (Lond). 2015 Dec;4(4):438-43

Authors: Makaram N, Gohil R, Majumdar S

Abstract
INTRODUCTION: We report the rare case of a patient presenting with dysphagia secondary to a large vertebral osteophyte, which formed from his previous occupation.
PRESENTATION OF CASE: A 76-year-old gentleman presented with a year-long history of dysphagia to solids, at the laryngeal level. He was otherwise well, with no red-flag symptoms. Nasoendoscopy showed a left-sided bulge obstructing the piriform fossa. Barium swallow demonstrated a large C4/C5 vertebral osteophyte. Excluding other abnormalities the patient's dysphagia was determined to be due to the osteophyte. The patient mentioned carrying large (50 kg) bags of coal for his previous occupation. This chronic trauma was concluded to be the cause for the osteophyte.
DISCUSSION: We use this case as an opportunity to outline mechanism of swallowing, and the causes and classification of dysphagia are additionally described. We also review the literature regarding vertebral osteophytes to contextualise the rarity of this case, especially in regard to the strong occupational association.
CONCLUSION: A structured and thorough history and examination in dysphagia is emphasized. It is important to enquire about 'red-flag' symptoms, suggestive of head and neck or upper gastrointestinal malignancy. Barium swallow is a critical investigation in dysphagia-it can also demonstrate large bony abnormalities, which is a rare causative factor.

PMID: 26693007 [PubMed]



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STAT3 is a key pathway in primary intraosseous squamous cell carcinoma arising from an odontogenic keratocyst.

STAT3 is a key pathway in primary intraosseous squamous cell carcinoma arising from an odontogenic keratocyst.

Am J Transl Res. 2015;7(10):1860-9

Authors: Zhang L, Liu SL, Ye WM, Zheng J

Abstract
PURPOSE: Primary intraosseous squamous cell carcinoma (PIOSCC) arising within an odontogenic keratocyst (OKC) is rare malignancy, entailing a poor prognosis for delayed diagnosis. The number of reports concerning this entity is extremely small. The aim of this study is to present the clinical and pathologic characteristics of PIOSCC and investigate its pathogenesis.
MATERIALS AND METHODS: This study describes three patients with mandibular PIOSCC derived from an OKC over a seven-year period, each of which suffering from decompression in mandible. Important diagnostic criteria included the absence of overlying oral mucosal ulceration, the absence of a distant potential primary tumor, and the presence of a completely intraosseus lesion. The malignant transformation of OKC to PIOSCC was confirmed by pathologic evaluation of surgical resection specimens. Immunohistochemistry (IHC) was used to evaluating expression of Ki-67, p65, EGFR, phospho-AKT, and STAT3 in each of the three tumors and adjacent cyst walls.
RESULTS: Analysis by IHC indicated that Ki67, P65, EGFR and STAT3 were substantially elevated in PIOSCC. There was an obvious positive correlation between Ki67, P65, EGFR and STAT3 expression in adjacent benign epithelium. Each tumor exhibited long-standing chronic inflammation in the benign odontogenic cyst, suggesting that a sustained immune response may be partially responsible for malignant transformation of the benign cystic lining cells.
CONCLUSIONS: These findings indicate that inflammation may be the principal mediator in PIOSCC ex-OKC, and the STAT3 signaling pathway is an important contributor to this process. Combined detection of Ki67, P65, and EGFR in the lesional epithelium can support the diagnosis of PIOSCC.

PMID: 26692930 [PubMed]



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EphB2 reverse signaling regulates learned opiate tolerance via hippocampal function

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Publication date: 1 March 2016
Source:Behavioural Brain Research, Volume 300
Author(s): Sofia Huroy, Ashlin Kanawaty, Lilia Magomedova, Carolyn L. Cummins, Susan R. George, Derek van der Kooy, Jeffrey T. Henderson
Despite significant progress, many uncertainties remain regarding molecular and cellular mechanisms governing opiate tolerance. We report that loss of EphB2 receptor reverse signaling results in a marked acceleration of morphine tolerance in vivo. EphB2 null mice exhibited no significant difference in brain or blood morphine metabolism, mu opiate receptor affinity or binding capacity. Motor and sensory performance for EphB2 null mice was also comparable to controls for both morphine naïve or tolerized states. Regional distributions of mu opioid receptor, CGRP and substance P were also unaltered in EphB2 null mice. However EphB2 null mice, but not animals homozygous for kinase dead version of EphB2, exhibited significant modification of context-dependent anti-nociceptive responses following chronic morphine treatment. To verify the changes seen in EphB2 null mice arise from impairment of hippocampal learning, discreet bilateral lesions of the dorsal hippocampus were produced in wildtype mice demonstrating striking similarities to that seen in EphB2 null mice for opiate-dependent behavior. The results demonstrate that EphB2 reverse signaling plays a unique and requisite role in inhibiting the development of opiate-dependent tolerance in vivo.



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Effects of optimism on gambling in the rat slot machine task

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Publication date: 1 March 2016
Source:Behavioural Brain Research, Volume 300
Author(s): Dominik Rafa, Jakub Kregiel, Piotr Popik, Rafal Rygula
Although gambling disorder is a serious social problem in modern societies, information about the behavioral traits that could determine vulnerability to this psychopathology is still scarce. In this study, we used a recently developed ambiguous-cue interpretation ​(ACI)​ paradigm to investigate whether 'optimism' and 'pessimism' as behavioral traits may determine the gambling-like behavior of rodents. In a series of ACI tests (cognitive bias screening), we identified rats that displayed 'pessimistic' and 'optimistic' traits. Subsequently, using the rat slot machine task (rSMT), we investigated if the 'optimistic'/'pessimistic' traits could determine the crucial feature of gambling-like behavior that has been investigated in rats and humans: the ​interpretation of 'near-miss' outcomes as a positive (i.e., win) situation. We found that 'optimists' did not interpret 'near-miss', 'near loss', or 'clear win' as win trials more often than ​their 'pessimistic' ​conspecifics; however, the 'optimists' were statistically more likely to reach for a reward in the hopeless 'clear loss' situation. This agrees with human studies and provides a platform for modeling interactions between behavioral traits and gambling in animals.



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Sensitivity during the forced swim test is a key factor in evaluating the antidepressant effects of abscisic acid in mice

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Publication date: 1 March 2016
Source:Behavioural Brain Research, Volume 300
Author(s): Cong-Cong Qi, Yu-Mian Shu, Fang-Han Chen, Yu-Qiang Ding, Jiang-Ning Zhou
Abscisic acid (ABA), a crucial phytohormone, is distributed in the brains of mammals and has been shown to have antidepressant effects in the chronic unpredictable mild stress test. The forced swim test (FST) is another animal model that can be used to assess antidepressant-like behavior in rodents. Here, we report that the antidepressant effects of ABA are associated with sensitivities to the FST in mice. Based on mean immobility in the 5-min forced swim pre-test, ICR mice were divided into short immobility mice (SIM) and long immobility mice (LIM) substrains. FST was carried out 8 days after drug administration. Learned helplessness, as shown by increased immobility, was only observed in SIM substrain and could be prevented by an 8-day ABA treatment. Our results show that ABA has antidepressant effects in SIM substrain and suggest that mice with learned helplessness might be more suitable for screening potential antidepressant drugs.



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Modulation of cannabinoid signaling by amygdala α2-adrenergic system in fear conditioning

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Publication date: 1 March 2016
Source:Behavioural Brain Research, Volume 300
Author(s): Mohammad Nasehi, Majid Zamanparvar, Mohaddeseh Ebrahimi-Ghiri, Mohammad-Reza Zarrindast
The noradrenergic system plays a critical role in the modulation of emotional state, primarily related to anxiety, arousal, and stress. Growing evidence suggests that the endocannabinoid system mediates stress responses and emotional homeostasis, in part, by targeting noradrenergic circuits. In addition, there is an interaction between the cannabinoid and noradrenergic system that has significant functional and behavioral implications. Considering the importance of these systems in forming memories for fearful events, we have investigated the involvement of basolateral amygdala (BLA) α2-adrenoceptors on ACPA (as selective cannabinoid CB1 agonist)-induced inhibition of the acquisition of contextual and auditory conditioned fear. A contextual and auditory fear conditioning apparatus for assess fear memory in adult male NMRI mice was used. Pre-training, intraperitoneal administration of ACPA decreased the percentage freezing time in contextual (at doses of 0.05 and 0.1mg/kg) and auditory (at dose of 0.1mg/kg) in the fear conditioning task, indicating memory acquisition deficit. The same result was observed with intra-BLA microinjection of clonidine (0.001–0.5μg/mouse, for both memories), as α2-adrenoceptor agonist and yohimbine (at doses of 0.005 and 0.05 for contextual and at dose of 0.05μg/mouse for auditory fear memory), as α2-adrenoceptor antagonist. In addition, intra-BLA microinjection of clonidine (0.0005μg/mouse) did not alter ACPA response in both conditions, while the same dose of yohimbine potentiated ACPA response at the lower dose on contextual fear memory. It is concluded that BLA α2-adrenergic receptors may be involved in context- but not tone-dependent fear memory impairment induced by activation of CB1 receptors.



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Possible contribution of epigenetic changes in the development of schizophrenia-like behavior in vasopressin-deficient Brattleboro rats

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Publication date: 1 March 2016
Source:Behavioural Brain Research, Volume 300
Author(s): Kornél Demeter, Bibiána Török, Anna Fodor, János Varga, Szilamér Ferenczi, Krisztina J. Kovács, Ildikó Eszik, Viktor Szegedi, Dóra Zelena
Schizophrenia-like symptoms were detected in vasopressin-deficient (di/di) Brattleboro rats, and it was also suggested that schizophrenia might have an epigenetic component. We aimed to clarify if epigenetic changes contribute to schizophrenia-like behavior of this strain.Behavioral (locomotion by telemetry, cognition by novel object recognition, social recognition and social avoidance test, attention by pre-pulse inhibition) and epigenetic differences were compared between wild type and di/di animals. DNA methyltransferase1 (DNMT1), DNMT3a, as well as COMT, GAD, VGLUT1, 5HT2A, BDNF mRNA levels in prefrontal brain region and hippocampus were studied by qRT-PCR. Histone3 (H3) and H4 acetylation (Ac) were studied by western-blot followed by region specific examination of H3 lysine9 (K9) acetylation by immunohistochemistry.Impaired cognitive, social and attention behavior of di/di rats confirmed schizophrenia-like symptoms in our local colony. The pan-AcH3 immunoreactivity was lower in prefrontal region and elevated in the hippocampus of di/di animals. We found lower immunopositive cell number in the dorsal peduncular prefrontal cortex and the ventral lateral septum and increased AcH3K9 immunoreactivity in CA1 region of di/di animals. There were no major significant alterations in the studied mRNA levels.We confirmed that Brattleboro rat is a good preclinical model of schizophrenia. Its schizophrenia-like behavioral alteration was accompanied by changes in H3 acetylation in the prefrontal region and hippocampus. This may contribute to disturbances of many schizophrenia-related substances leading to development of schizophrenia-like symptoms. Our studies confirmed that not a single gene, rather fine changes in an array of molecules are responsible for the majority of schizophrenia cases.



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Allocentric coding in ventral and dorsal routes during real-time reaching: Evidence from imaging-guided multi-site brain stimulation

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Publication date: 1 March 2016
Source:Behavioural Brain Research, Volume 300
Author(s): J.J. Adam, T.J.H. Bovend'Eerdt, T. Schuhmann, A.T. Sack
Recent evidence has revealed an advantage for movements to last target positions in a structured visual display, suggesting a mediating role of allocentric, in addition to egocentric, information in goal-directed reaching. This notion is accommodated by the recently updated perception-action model (Milner and Goodale, 2008), which postulates functional roles of ventral and dorsal neural areas in allocentric coding. In the present study, we used imaging-guided multi-site continuous theta burst stimulation (cTBS) over regions of the ventral and dorsal processing streams to unravel their functional contribution on visually guided reaching in two display conditions: the "egocentric" condition where the target appeared in an empty display and the "allocentric" condition where the target appeared in a structured display with placeholders marking possible target locations. Cortical sites for cTBS were identified individually for each participant via coregistration with magnetic resonance scans. Results indicated that cTBS in the egocentric condition did not affect movement time, but cTBS in the allocentric condition modulated movement time contingent on stimulation site and target position. In particular, cTBS over the lateral occipital cortex (part of the ventral stream) and over the angular gyrus (part of the dorsal stream) eliminated the last-target advantage by slowing down reaching to the salient last target position. cTBS over the superior parietal occipital cortex did not affect the last-target advantage. These outcomes provide the first causal evidence for allocentric coding in ventral and dorsal routes during real-time reaching, thereby supporting the updated perception-action model.



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Endoscopic Endonasal Repair of Sphenoid Sinus Cerebrospinal Fluid Leaks: Our Experience.

Endoscopic Endonasal Repair of Sphenoid Sinus Cerebrospinal Fluid Leaks: Our Experience.

Indian J Otolaryngol Head Neck Surg. 2015 Dec;67(4):412-6

Authors: Janakiram TN, Subramaniam V, Parekh P

Abstract
Endoscopic endonasal approaches are becoming increasingly popular over transcranial approaches for repair of cerebrospinal leak defects. Sphenoid sinus CSF leaks pose a significant challenge and carry the risk of life-threatening intracranial complications. Their management depends upon identifying the leak using imaging techniques followed by intraoperative endoscopic localization. Our experience in the endoscopic endonasal management of sphenoid sinus CSF leaks is reported in this paper.

PMID: 26693461 [PubMed]



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Combined transforaminal lumbar interbody fusion with posterolateral instrumented fusion for degenerative disc disease can be a safe and effective treatment for lower back pain.

Combined transforaminal lumbar interbody fusion with posterolateral instrumented fusion for degenerative disc disease can be a safe and effective treatment for lower back pain.

J Craniovertebr Junction Spine. 2015 Oct-Dec;6(4):183-9

Authors: Deukmedjian AJ, Cianciabella AJ, Cutright J, Deukmedjian A

Abstract
BACKGROUND: Lumbar fusion is a proven treatment for chronic lower back pain (LBP) in the setting of symptomatic spondylolisthesis and degenerative scoliosis; however, fusion is controversial when the primary diagnosis is degenerative disc disease (DDD). Our objective was to evaluate the safety and effectiveness of lumbar fusion in the treatment of LBP due to DDD.
MATERIALS AND METHODS: Two-hundred and five consecutive patients with single or multi-level DDD underwent lumbar decompression and instrumented fusion for the treatment of chronic LBP between the years of 2008 and 2011. The primary outcome measures in this study were back and leg pain visual analogue scale (VAS), patient reported % resolution of preoperative back pain and leg pain, reoperation rate, perioperative complications, blood loss and hospital length of stay (LOS).
RESULTS: The average resolution of preoperative back pain per patient was 84% (n = 205) while the average resolution of preoperative leg pain was 90% (n = 190) while a mean follow-up period of 528 days (1.5 years). Average VAS for combined back and leg pain significantly improved from a preoperative value of 9.0 to a postoperative value of 1.1 (P ≤ 0.0001), a change of 7.9 points for the cohort. The average number of lumbar disc levels fused per patient was 2.3 (range 1-4). Median postoperative LOS in the hospital was 1.2 days. Average blood loss was 108 ml perfused level. Complications occurred in 5% of patients (n = 11) and the rate of reoperation for symptomatic adjacent segment disease was 2% (n = 4). Complications included reoperation at index level for symptomatic pseudoarthrosis with hardware failure (n = 3); surgical site infection (n = 7); repair of cerebrospinal fluid leak (n = 1), and one patient death at home 3 days after discharge.
CONCLUSION: Lumbar fusion for symptomatic DDD can be a safe and effective treatment for medically refractory LBP with or without leg pain.

PMID: 26692696 [PubMed]



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MicroRNA-101-3p suppresses cell proliferation, invasion and enhances chemotherapeutic sensitivity in salivary gland adenoid cystic carcinoma by targeting Pim-1.

MicroRNA-101-3p suppresses cell proliferation, invasion and enhances chemotherapeutic sensitivity in salivary gland adenoid cystic carcinoma by targeting Pim-1.

Am J Cancer Res. 2015;5(10):3015-29

Authors: Liu XY, Liu ZJ, He H, Zhang C, Wang YL

Abstract
MicroRNAs (miRNAs) play critical roles in carcinogenesis and tumor progression. Recent research has revealed miR-101-3p as an important regulator in several cancers. Nevertheless, its function in salivary gland Adenoid cystic carcinoma (ACC), a relatively rare malignance with poor long-term survival rate arisen in head and neck region, remain unknown. In this study, down-regulated miR-101-3p expression was detected in ACC tissues and ACC cell lines with high potential for metastasis. Ectopic expression of miR-101-3p significantly repressed the invasion, proliferation, colony formation, and formation of nude mice xenografts and induced potent apoptosis in ACC cell lines. The provirus integration site for Moloney murine leukemia virus 1 (Pim-1) oncogene was subsequently confirmed as a direct target gene of miR-101-3p in ACC. Functional restoration assays revealed that miR-101-3p inhibits cell growth and invasion by directly decreasing Pim-1 expression. Protein levels of Survivin, Cyclin D1 and β-catenin were also down-regulated by miR-101-3p. miR-101-3p enhanced the sensitivity of cisplatin in ACC cell lines. Taken together, our results demonstrate that the novel miR-101-3p/Pim-1 axis provides excellent insights into the carcinogenesis and tumor progression of ACC and may be a promising therapeutic target for this type of cancer.

PMID: 26693056 [PubMed]



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Sclerosing Lesions of the Orbit: A Review.

Sclerosing Lesions of the Orbit: A Review.

Middle East Afr J Ophthalmol. 2015 Oct-Dec;22(4):447-51

Authors: Lokdarshi G, Pushker N, Bajaj MS

Abstract
Orbital sclerosing inflammation is a distinct group of pathologies characterized by indolent growth with minimal or no signs of inflammation. However, contrary to earlier classifications, it should not be considered a chronic stage of acute inflammation. Although rare, orbital IgG4-related disease has been associated with systemic sclerosing pseudotumor-like lesions. Possible mechanisms include autoimmune and IgG4 related defective clonal proliferation. Currently, there is no specific treatment protocol for IgG4-related disease although the response to low dose steroid provides a good response as compared to non-IgG4 sclerosing pseudotumor. Specific sclerosing inflammations (e.g. Wegener's disease, sarcoidosis, Sjogren's syndrome) and neoplasms (lymphoma, metastatic breast carcinoma) should be ruled out before considering idiopathic sclerosing inflammation as a diagnosis.

PMID: 26692715 [PubMed - in process]



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Lymphoepithelioma-like carcinoma of the urinary bladder: A rare case report.

Lymphoepithelioma-like carcinoma of the urinary bladder: A rare case report.

Urol Ann. 2015 Oct-Dec;7(4):516-9

Authors: Raphael V, Jitani AK, Sailo SL, Vakha M

Abstract
Bladder cancers are the second most common urogenital malignancy, its most common type being urothelial carcinoma. Lymphoepithelioma-like carcinoma (LELC) which is commonly described in the nasopharynx is a very rare presentation in the bladder. Diagnosis of this entity poses a histopathological challenge. Nonetheless, the correct diagnosis is important as it implies a different therapeutic approach with the potential bladder salvage treatment protocol. We here present a case of an 87-year-old man, who was diagnosed as LELC. To the best of our knowledge, this is the first case of LELC reported from India in English literature.

PMID: 26692678 [PubMed]



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Thyroid cancer in a long-term nonprogressor HIV-1 infection.

Thyroid cancer in a long-term nonprogressor HIV-1 infection.

Indian J Sex Transm Dis. 2015 Jul-Dec;36(2):195-7

Authors: Phatak UA, Chitale PV, Jagdale RV

Abstract
Long-term non-progressor HIV infection (LTNP-HIV) is seen in <1 percent of HIV-afflicted population. There are definite criteria for the diagnosis of LTNP-HIV. Malignancies either solid tumors or haematological cancers have not been reported in such population. We report here a rare case of follicular thyroid carcinoma in LTNP-HIV infection. She never had any opportunistic infections. She did not receive anti-retroviral therapy in the entire course of illness and continued to have good quality of life. Treatment of follicular thyroid cancer was similar to other patients without HIV infection. This could be the first case study from India.

PMID: 26692617 [PubMed]



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Patterns and functional implications of rare germline variants across 12 cancer types.

Patterns and functional implications of rare germline variants across 12 cancer types.

Nat Commun. 2015;6:10086

Authors: Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, Miller CA, Kanchi KL, Eldred JM, Larson DE, Welch JS, You M, Ozenberger BA, Govindan R, Walter MJ, Ellis MJ, Mardis ER, Graubert TA, Dipersio JF, Ley TJ, Wilson RK, Goodfellow PJ, Raphael BJ, Chen F, Johnson KJ, Parvin JD, Ding L

Abstract
Large-scale cancer sequencing data enable discovery of rare germline cancer susceptibility variants. Here we systematically analyse 4,034 cases from The Cancer Genome Atlas cancer cases representing 12 cancer types. We find that the frequency of rare germline truncations in 114 cancer-susceptibility-associated genes varies widely, from 4% (acute myeloid leukaemia (AML)) to 19% (ovarian cancer), with a notably high frequency of 11% in stomach cancer. Burden testing identifies 13 cancer genes with significant enrichment of rare truncations, some associated with specific cancers (for example, RAD51C, PALB2 and MSH6 in AML, stomach and endometrial cancers, respectively). Significant, tumour-specific loss of heterozygosity occurs in nine genes (ATM, BAP1, BRCA1/2, BRIP1, FANCM, PALB2 and RAD51C/D). Moreover, our homology-directed repair assay of 68 BRCA1 rare missense variants supports the utility of allelic enrichment analysis for characterizing variants of unknown significance. The scale of this analysis and the somatic-germline integration enable the detection of rare variants that may affect individual susceptibility to tumour development, a critical step toward precision medicine.

PMID: 26689913 [PubMed - in process]



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[A case of the successful function-preserving treatment of hyoid bone chondrosarcoma].

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[A case of the successful function-preserving treatment of hyoid bone chondrosarcoma].

Vestn Otorinolaringol. 2015;80(5):91-2

Authors: Klochikhin AL, Klochikhin MA, Kuleshov BY

Abstract
The authors report a case of the successful function-preserving treatment of a rare neck tumour, chondrosarcoma originating from the hyoid bone. The proposed combined treatment allowed to preserve the respiratory, voice-generating and protective functions of the larynx. The dynamic follow up failed to reveal the development of relapse or metastases during 1 year after surgery.

PMID: 26525481 [PubMed - indexed for MEDLINE]



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Insulinoma in a patient with type 2 diabetes mellitus.

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Insulinoma in a patient with type 2 diabetes mellitus.

Acta Med Iran. 2015;53(5):317-9

Authors: Ghafoori S, Lankarani M

Abstract
Insulinoma in a patient with pre-existing diabetes is extremely rare. Only a small number of cases have been reported all over the world. We report a case of insulinoma in a patient with type 2 diabetes. A 63-year-old female was diagnosed to have diabetes mellitus six years ago, she was given metformin and sulphonylurea to control her glycemia, she had adequate glycemic control for many years, but thereafter, the patient has experienced hypoglycemia after cessation of the treatment since 8 months ago and was hospitalized for further examination, endogenous hypoglycemia was confirmed and the level of serum insulin and C-peptide were elevated. Endoscopic ultrasound showed a heterogeneous lesion in the head of the pancreas. Head pancreatectomy was done. In the postoperative period diabetes again developed and required oral agents for control.

PMID: 26024708 [PubMed - indexed for MEDLINE]



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[Multiple endocrine neoplasia type 2B].

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[Multiple endocrine neoplasia type 2B].

Ned Tijdschr Geneeskd. 2015;159:A7719

Authors: Pijnenburg-Kleizen KJ, van Santen HM, Koolen DA, Claahsen-van der Grinten HL

Abstract
BACKGROUND: Multiple endocrine neoplasia type 2b (MEN2B) is a rare syndrome characterised by the occurrence of medullary thyroid carcinoma at a young age in all patients, and phaeochromocytoma at a later age in half of the patients. Once a medullary thyroid carcinoma causes symptoms, it has usually already metastasised to the lymph nodes and curative treatment is seldom possible at that stage.
CASE DESCRIPTION: We present two patients who had phenotypical characteristics of the MEN2B syndrome from a young age: mucosal neuromas, ptosis, a marfanoid habitus, gastrointestinal problems and crying without tears. When the diagnosis was made, at the ages of 15 and 10 years respectively, both patients had already developed metastatic medullary thyroid carcinoma.
CONCLUSION: Early recognition of the phenotype of MEN2B syndrome is crucial in order to be able to perform a prophylactic or curative thyroidectomy. The mucosal neuromas, which are usually present from infancy, are a particularly important characteristic.

PMID: 25944066 [PubMed - indexed for MEDLINE]



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Laparoscopic Treatment of Sclerosing Stromal Tumor of the Ovary in a Woman With Gorlin-Goltz Syndrome: A Case Report and Review of the Literature.

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Laparoscopic Treatment of Sclerosing Stromal Tumor of the Ovary in a Woman With Gorlin-Goltz Syndrome: A Case Report and Review of the Literature.

J Minim Invasive Gynecol. 2015 Jul-Aug;22(5):892-5

Authors: Grechi G, Clemente N, Tozzi A, Ciavattini A

Abstract
Gorlin-Goltz syndrome is a rare hereditary multisystemic disease. Multiple basal cell carcinomas, odontogenic keratocysts, and skeletal abnormalities are the main clinical manifestations of the syndrome, but several organs can be involved. Moreover, this condition is associated with the development of various benign and malignant tumors, even in the genital tract. This report describes a rare association between Gorlin-Goltz syndrome and the sclerosing stromal tumor of the ovary. Because the ultrasound and magnetic resonance imaging patterns of this tumor can be similar to those of a malignant neoplasm, prompt surgical intervention and histological confirmation of diagnosis is mandatory; however, this is a benign lesion and thus can be approached with a laparoscopic fertility-sparing surgery. Gynecologists should be aware of this possible association to provide appropriate counseling for these women, and to take a fertility-sparing laparoscopic approach whenever possible.

PMID: 25764974 [PubMed - indexed for MEDLINE]



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Invasive, atypical and aggressive pituitary adenomas and carcinomas.

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Invasive, atypical and aggressive pituitary adenomas and carcinomas.

Endocrinol Metab Clin North Am. 2015 Mar;44(1):99-104

Authors: Sav A, Rotondo F, Syro LV, Di Ieva A, Cusimano MD, Kovacs K

Abstract
Aggressive pituitary adenomas have a high risk of recurrence, a lack of therapeutic response, and resistance to conventional treatment. So far, no satisfactory biomarkers are available for predicting their behavior. Some specific pituitary adenoma histotypes are more prone to follow an aggressive behavior. Pituitary carcinomas are rare and show cerebrospinal and/or systemic metastasis. They have worse prognosis than aggressive adenomas, and radiation is of limited use in their treatment.

PMID: 25732646 [PubMed - indexed for MEDLINE]



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Comparison of the KIR3DS1/Bw4 distribution in Chinese healthy and acute myeloid leukemia individuals.

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Comparison of the KIR3DS1/Bw4 distribution in Chinese healthy and acute myeloid leukemia individuals.

Hum Immunol. 2015 Mar;76(2-3):79-82

Authors: Tao S, He Y, Zhang W, Wang W, He J, Han Z, Chen N, Dong L, He J, Zhu F, Lv H

Abstract
Killer cell immunoglobulin like receptor (KIR) 3DS1 is one of the most important activating receptors and some studies revealed that KIR3DS1 combined with HLA ligand was not related to acute myeloid leukemia (AML), but rare data was reported in Chinese population. In this study, KIR3DS1 gene polymorphisms and HLA-Bw4 were investigated in 189 Chinese AML patients compared with 166 healthy individuals. The results showed that the distributions of KIR3DS1, Bw4, 3DS1/Bw4 and 3DS1/Bw4-80I were insignificantly different between AML and healthy individuals. This study suggests that the presence of 3DS1 and HLA-Bw4 ligands have no effect on AML disease.

PMID: 25636577 [PubMed - indexed for MEDLINE]



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Epithelioid trophoblastic tumor: an unusual malignancy of ovary.

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Epithelioid trophoblastic tumor: an unusual malignancy of ovary.

J Coll Physicians Surg Pak. 2014 Nov;24 Suppl 3:S201-3

Authors: Mahmood H, Faheem M, Tahir M, Arif S, Mahmood S, Irfan J

Abstract
Epithelioid Trophoblastic Tumor (ETT) is a distinct but rare variety of gestational trophoblastic tumors. Misdiagnosis delays effective treatment and affects the survival. The case being reported here involved a 43 years old lady presented with 4 months history of intermenstrual per vaginal bleeding and 6 weeks amenorrhea. Workup has revealed pelvic mass. The patient underwent laparotomy with transabdominal hysterectomy and bilateral salpingo-oophorectomy. Histopathology turned out to be clear cell carcinoma of the ovary. Patient was put on chemotherapy but there was progression of disease. Review of histopathology and immunohistochemistry revealed it as Epithelioid Trophoblastic Tumor; serum b-hCG was also raised. The case was really challenging for histopathologist. By the time final diagnosis was made, patient developed extensive metastases in lungs and liver and expired. Such an uncommon yet distinct trophoblastic tumor should be kept in mind by pathologists and treating physicians.

PMID: 25518773 [PubMed - indexed for MEDLINE]



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Mixed ovarian germ cell tumor composed of immature teratoma, yolk sac tumor and embryonal carcinoma.

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Mixed ovarian germ cell tumor composed of immature teratoma, yolk sac tumor and embryonal carcinoma.

J Coll Physicians Surg Pak. 2014 Nov;24 Suppl 3:S198-200

Authors: Wang Y, Zhou F, Qian Z, Qing J, Zhao M, Huang L

Abstract
We report the case of a 19-year-old woman experiencing lower abdominal distension and pain. Laboratory tests indicated elevated serum levels of Alpha-Fetoprotein (AFP) and human Chorionic Gonadotropin (hCG). A large mass was detected in the abdomen by physical examination and by transvaginal ultrasonography. Exploratory laparotomy was performed, and a smooth-surfaced, spherical, solid tumor was found on the left ovary, measuring 11.5 x 9.9 x 6.9 cm. Histological evaluation revealed that the tumor consisted of a combination of immature teratoma, Yolk Sac Tumor, and embryonal carcinoma; this is a very rare combination in mixed germ cell tumors.

PMID: 25518772 [PubMed - indexed for MEDLINE]



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Incidentally discovered giant mucocele of the appendix.

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Incidentally discovered giant mucocele of the appendix.

J Coll Physicians Surg Pak. 2014 Nov;24 Suppl 3:S196-7

Authors: Harris SH, Khan R, Ansari MM, Maheshwari V

Abstract
Mucocele of the appendix is a rare but well-recognized entity that can mimic several common clinical conditions or present as an incidental radiological or surgical finding at laparotomy. Mucoceles are characterized by distension of the lumen due to accumulation of mucoid substance. They can result from mucosal hyperplasia, mucinous cystadenoma, or mucinous cystadenocarcinoma. If untreated, they may rupture producing the potentially fatal entity Pseudomyxoma peritonei, which is difficult to treat both surgically or medically. Appendectomy is used for simple mucocele or for cystadenoma. Preoperative diagnosis of a mucocele is helpful at the time of surgical intervention with careful mobilization, particularly of large lesions reducing the possibility of rupture and complications. The authors report a case of a 65-year-old man presenting with peritonitis due to a pre-pyloric gastric perforation also having an incidental giant mucocele of the appendix.

PMID: 25518771 [PubMed - indexed for MEDLINE]



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Clinical features and prognostic factors of patients with chordoma in the spine: a retrospective analysis of 153 patients in a single center.

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Clinical features and prognostic factors of patients with chordoma in the spine: a retrospective analysis of 153 patients in a single center.

Neuro Oncol. 2015 May;17(5):725-32

Authors: Meng T, Yin H, Li B, Li Z, Xu W, Zhou W, Cheng M, Wang J, Zhou L, Yang X, Liu T, Yan W, Song D, Xiao J

Abstract
BACKGROUND: Chordoma in the spine is relatively rare, and minimal information has been published in the literature regarding this subject. Moreover, there are controversies over prognostic factors of this disease.
METHODS: A retrospective analysis of chordoma in the spine was performed by survival analysis. Local relapse-free survival (LRFS) and overall survival (OS) were analyzed from the date of surgery to the date of local recurrence and death. The LRFS and OS rates were estimated using the Kaplan-Meier method to identify potential prognostic factors. Factors with P values ≤ .1 were subjected to multivariate analysis by Cox regression analysis. P values ≤ .05 were considered statistically significant.
RESULTS: A total of 153 patients with spinal chordoma were included in the study. The mean follow-up period was 72.0 months (range, 1-279 months). Local recurrence was detected in 51 cases after initial surgery in our center, while death occurred in 42 cases. The statistical analysis suggested that tumor location of C3-L5, dedifferentiated chordoma, preoperative Frankel scores A-C, and total spondylectomy were independent prognostic factors for LRFS. In addition, total en bloc spondylectomy and Karnofsky' performance status (KPS) ≥ 80% were favorable factors for OS.
CONCLUSIONS: Total spondylectomy, by either en bloc or piecemeal method, could significantly reduce LRFS for spinal chordoma. Location of C3-L5 is a favorable factor for LRFS, while dedifferentiated subtype and preoperative Frankel scores A-C are adverse prognostic factors. In addition, total en bloc spondylectomy and KPS ≥ 80% significantly improve overall survival of patients with spinal chordoma.

PMID: 25488908 [PubMed - indexed for MEDLINE]



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Intracranial dural metastasis presenting as chronic subdural hematoma: a case report and review of literature.

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Intracranial dural metastasis presenting as chronic subdural hematoma: a case report and review of literature.

Turk Neurosurg. 2014;24(6):992-5

Authors: Ashish K, Das K, Mehrotra A, Jaiswal A, Jaiswal S, Sahu R, Srivastav A

Abstract
Intracranial dural metastasis presenting as chronic subdural hematoma is a relatively rare clinical scenario. There are different theories explaining the formation of subdural hematoma in such cases. In this report we present a case of chronic subdural hematoma in a 44-year old lady who did not have any clinical evidence of primary tumour anywhere in the body. This lady died in spite of two emergency surgeries. During second surgery, the subdural membrane was sent for histopathological examination which revealed presence of metastatic tumour. We discuss the case along with a review of literature and recommend subdural membrane biopsy in all cases of chronic subdural hematoma.

PMID: 25448223 [PubMed - indexed for MEDLINE]



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Lumbar intraosseous schwannoma: case report and review of the literature.

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Lumbar intraosseous schwannoma: case report and review of the literature.

Turk Neurosurg. 2014;24(6):982-6

Authors: Song D, Chen Z, Song D, Li Z

Abstract
Intraosseous schwannomas of the mobile spine are extremely rare. To our knowledge, only 21 cases have been reported in the literature. In this report, we present a case of schwannoma involving the lumbar spine, with a review of the literature and discussion of this rare tumor. A 44 year old male presented with a 3 year history of intermittent low back pain, with radiation into the right lower extremity during the last 2 years. Radiographs revealed an approximately 4 x 4 cm irregular mass with marginal sclerosis located at the L5 vertebra, involving the right pedicle and extruding into the spinal canal. The tumor was resected completely and was confirmed as schwannoma by histological examination. At follow up after 12 months, the patient was free of pain and with no recurrence. Despite its low incidence, intraosseous schwannomas should be considered as the differential diagnosis of an extradural mass involving the vertebrae. Surgery is the preferred treatment method and usually carries a good prognosis.

PMID: 25448221 [PubMed - indexed for MEDLINE]



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Leptomeningeal dissemination of pilocytic astrocytoma in a 17-year-old boy.

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Leptomeningeal dissemination of pilocytic astrocytoma in a 17-year-old boy.

Turk Neurosurg. 2014;24(6):978-81

Authors: Jandaghi AB, Bidabadi E, Saadat S, Alijani B, Daliri S, Reyhanian Z, Mashouf M

Abstract
Pilocytic astrocytoma with leptomeningeal dissemination is a rare phenomenon and can be associated with obstructive hydrocephalus and an unfavorable prognosis. Herein, we report a seventeen-year-old boy with a history of ventriculo-peritoneal shunt insertion due to severe hydrocephalus who presented with progressive headache and vomiting together with ocular and cerebellar signs and symptoms. Neuroimaging confirmed the presence of multiple intracranial masses in the cerebellum and thalamus. Intracranial dissemination of tumor to the the leptomeninges was seen during neuroendoscopy. Simultaneous biopsy and endoscopic third ventriculostomy were performed and the diagnosis of low-grade pilocytic astrocytoma with leptomeningeal dissemination was made by histological examination. The patient underwent chemotherapy in combination with radiotherapy to reduce the risk of reoccurrence of the primary tumor and was followed for one year.

PMID: 25448220 [PubMed - indexed for MEDLINE]



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Pituitary stone: a case report and review of the literature.

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Pituitary stone: a case report and review of the literature.

Turk Neurosurg. 2014;24(6):967-73

Authors: Tanriover N, Kucukyuruk B, Hatipoglu E, Comunoglu N

Abstract
A 39-year-old male without any significant complaints or symptoms presented with a calcified lesion located at the sellar region. Total removal of the lesion has been achieved via an endoscopic endonasal transsphenoidal approach. Histopathological examination of the lesion revealed a pituitary stone. This report describes the first pituitary stone formed within a plurihormonal pituitary adenoma and also differs from previous studies in means of chosen surgical method that is the first endoscopic approach to a pituitary stone. Additionally, by reviewing previous cases, a classification has been proposed and possible pathophysiological mechanisms behind this rare entity have been discussed.

PMID: 25448218 [PubMed - indexed for MEDLINE]



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Pituitary atypical adenoma or carcinoma sensitive to temozolomide combined with radiation therapy: a case report of early identification and management.

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Pituitary atypical adenoma or carcinoma sensitive to temozolomide combined with radiation therapy: a case report of early identification and management.

Turk Neurosurg. 2014;24(6):963-6

Authors: Zhong C, Yin S, Zhou P, Jiang S

Abstract
Pituitary carcinoma is extremely rare and difficult to diagnose early. Here we present a case of highly suspected pituitary malignant adenoma with early chemotherapy and radiation. A 30-year-old woman was admitted for headache and impaired vision, MRI found a sellar mass. Since there was no disturbance in serum hormone levels, she was diagnosed with non-functioning pituitary adenoma before surgery. Transsphenoidal removal of tumor was attempted but only partial resection of tumor was achieved. Pathology findings suggested a diagnosis of adenocarcinoma. PET-CT scan showed the tumor had elevated max standardized uptake value. No other abnormal sites were found, which excluded metastasis to pituitary. After surgery, the patient was treated with temozolomide assisted with radiation and tumor disappeared on MRI. No recurrence was observed on 1-year follow up. In conclusion, early temozolomide with radiation therapy for highly suspected pituitary carcinoma might be beneficial.

PMID: 25448217 [PubMed - indexed for MEDLINE]



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