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K L Ostrow, A L Bergner, J Blakeley, D G Evans, R Ferner, J M Friedman, G J Harris, J T Jordan, B Korf, S Langmead, G Leschziner, V Mautner, V L Merker, L Papi, S R Plotkin, J M Slopis, M J Smith, A Stemmer-Rachamimov, K Yohay, A J Belzberg
Schwannomatosis is a tumor suppressor syndrome that causes multiple tumors along peripheral nerves. Formal diagnostic criteria were first published in 2005. Variability in clinical presentation and a relative lack of awareness of the syndrome have contributed to difficulty recognizing affected individuals and accurately describing the natural history of the disorder. Many critical questions such as the mutations underlying schwannomatosis, genotype-phenotype correlations, inheritance patterns, pathologic diagnosis of schwannomatosis-associated schwannomas, tumor burden in schwannomatosis, the incidence of malignancy, and the effectiveness of current, or new treatments remain unanswered...
October 19, 2016: American Journal of Medical Genetics. Part A
Bas P Hartel, Martijn J H Agterberg, Ad F Snik, Henricus P M Kunst, A John V Opstal, Arjan J Bosman, Ronald J E Pennings
OBJECTIVES: Usher syndrome is the leading cause of hereditary deaf-blindness. Most patients with Usher syndrome type IIa start using hearing aids from a young age. A serious complaint refers to interference between sound localization abilities and adaptive sound processing (compression), as present in today's hearing aids. The aim of this study was to investigate the effect of advanced signal processing on binaural hearing, including sound localization. DESIGN AND PARTICIPANTS: In this prospective study, patients were fitted with hearing aids with a nonlinear (compression) and linear amplification program...
October 19, 2016: Clinical Otolaryngology
Zhao Chenhui, Wei Yi
BACKGROUND: Despite great advances in treatment of Aneurysmal subarachnoid hemorrhage (aSAH), yet, a consensus as to the most optimal timing of surgery has not been reached. MATERIALS AND METHODS: PubMed and the Cochrane Library were searched for English-language studies published up to May 2015. Before conducting the meta-analysis, the studies were evaluated for publication bias and heterogeneity. Fixed and random effect models were used to estimate relative risks (RR) and the corresponding 95% confidence intervals (CIs)...
December 7, 2015: Turkish Neurosurgery
Miguel José Francisco, Antonio Rahal, Fabio Augusto Cardillo Vieira, Paulo Savoia Dias da Silva, Marcelo Buarque de Gusmão Funari
Ultrasound examination of the chest has advanced in recent decades. This imaging modality is currently used to diagnose several pathological conditions and provides qualitative and quantitative information. Acoustic barriers represented by the aerated lungs and the bony framework of the chest generate well-described sonographic artifacts that can be used as diagnostic aids. The normal pleural line and A, B, C, E and Z lines (also known as false B lines) are artifacts with specific characteristics. Lung consolidation and pneumothorax sonographic patterns are also well established...
July 2016: Einstein
Rodolfo Patussi Correia, Laiz Cameirão Bento, Ana Carolina Apelle Bortolucci, Anderson Marega Alexandre, Andressa da Costa Vaz, Daniela Schimidell, Eduardo de Carvalho Pedro, Fabricio Simões Perin, Sonia Tsukasa Nozawa, Cláudio Ernesto Albers Mendes, Rodrigo de Souza Barroso, Nydia Strachman Bacal
Objective: To discuss the implementation of technical advances in laboratory diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria for validation of high-sensitivity flow cytometry protocols. Methods: A retrospective study based on analysis of laboratory data from 745 patient samples submitted to flow cytometry for diagnosis and/or monitoring of paroxysmal nocturnal hemoglobinuria. Results: Implementation of technical advances reduced test costs and improved flow cytometry resolution for paroxysmal nocturnal hemoglobinuria clone detection...
July 2016: Einstein
Flavia Westphal, Suzete Maria Fustinoni, Vânia Lopes Pinto, Patrícia de Souza Melo, Anelise Riedel Abrahão
Objective: To identify the profile of women seen in a Fetal Medicine unit, diagnosed with fetal abnormality incompatible with neonatal survival in their current pregnancy, and to check the association of gestational age upon diagnosis with the option of pregnancy termination. Methods: This is a retrospective cohort study carried out in the Fetal Medicine Outpatients Clinic of a university hospital, in the city of São Paulo (SP), Brazil, using medical records of pregnant women with fetus presenting abnormalities incompatible with neonatal survival...
July 2016: Einstein
Cristina Dos Santos Cardoso de Sá, Iara Kristine Fagundes, Talita Bastos Araújo, Acary Souza Bulle Oliveira, Francis Meire Fávero
The aim was to describe trunk control in ambulant and non-ambulant patients with Duchenne muscular dystrophy (DMD). We conducted a cross-sectional analysis of a sample of 50 DMD patients, (M age = 16.7 years) who underwent the Segmental Assessment of Trunk Control (SATCo). A seven-level scale of trunk control was used (1: head control only; 7: control of entire trunk while unsupported). Static, active and reactive posture control were evaluated in ambulant and non-ambulant patients. Inter-rater reliability for all assessments was evaluated by calculating the kappa coefficient...
October 2016: Arquivos de Neuro-psiquiatria
Sergio Eduardo Alonso Araujo, Lucas de Araujo Horcel, Victor Edmond Seid, Alexandre Bruno Bertoncini, Sidney Klajner
Background: Stapled hemorrhoidopexy is associated with less postoperative pain and faster recovery. However, it may be associated with a greater risk of symptomatic recurrence. We hypothesized that undertaking a limited surgical excision of hemorrhoid disease after stapling may be a valid approach for selected patients. Aim: To compare long-term results after stapled hemorrhoidopexy with and without complementation with closed excisional technique. Method: In a retrospective uni-institutional cohort study, sixty-five (29 men) patients underwent stapled hemorrhoidopexy and 21 (13 men) underwent stapled hemorrhoidopexy with excision...
July 2016: Arquivos Brasileiros de Cirurgia Digestiva: ABCD, Brazilian Archives of Digestive Surgery
Francisco Tustumi, Cintia Mayumi Sakurai Kimura, Flavio Roberto Takeda, Rodrigo Hideki Uema, Rubens Antônio Aissar Salum, Ulysses Ribeiro-Junior, Ivan Cecconello
Background: Despite recent advances in diagnosis and treatment, esophageal cancer still has high mortality. Prognostic factors associated with patient and with disease itself are multiple and poorly explored. Aim: Assess prognostic variables in esophageal cancer patients. Methods: Retrospective review of all patients with esophageal cancer in an oncology referral center. They were divided according to histological diagnosis (444 squamous cell carcinoma patients and 105 adenocarcinoma), and their demographic, pathological and clinical characteristics were analyzed and compared to clinical stage and overall survival...
July 2016: Arquivos Brasileiros de Cirurgia Digestiva: ABCD, Brazilian Archives of Digestive Surgery
D Caballero, J Katuri, J Samitier, S Sánchez
The ubiquitous random motion of mesoscopic active particles, such as cells, can be "rectified" or directed by embedding the particles in systems containing local and periodic asymmetric cues. Incorporated on lab-on-a-chip devices, these microratchet-like structures can be used to self-propel fluids, transport particles, and direct cell motion in the absence of external power sources. In this Focus article we discuss recent advances in the use of ratchet-like geometries in microfluidics which could open new avenues in biomedicine for applications in diagnosis, cancer biology, and bioengineering...
October 19, 2016: Lab on a Chip
Joel E Abbott, Roger L Sur
The aim of this paper was to evaluate the current technology and designs of flexible ureterorenoscopes. We will review contemporary fiberoptic and digital ureteroscopes, including a discussion on ureteroscope damage and repair, and lastly present the projected future of flexible ureterorenoscopy. Ureterorenoscopy has evolved dramatically over the past several decades, which has led to landscape reshaping of stone disease treatment and upper tract pathology. Advancements in tip control, miniaturization of scopes, introduction of a digital chip on the tip, disposable devices to augment surgery, surgical experience/familiarity and most recently single use scopes are all independent factors that have increased flexible ureterorenoscopy adoption and success...
October 19, 2016: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
Ben H Chew, Dirk Lange
Open ureterolithotomy and pyelolithotomy used to be first line therapy for treating kidney and ureteral stones. With the advent of shockwave lithotripsy, open stone surgery became less prevalent, but once ureteroscopy became more prevalent, open stone surgery became all but extinct. Advances in smaller, more flexible endoscopes and improvements in intracorporeal lithotripters, ureteroscopy has become a mainstay of therapy for kidney stones. The holmium:YAG laser can be utilized through flexible instruments and fragments any stone no matter what it is composed of...
October 19, 2016: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
Mengjing Wang, Jason Chou, Yongen Chang, Wei L Lau, Uttam Reddy, Connie M Rhee, Jing Chen, Chuanming Hao, Kamyar Kalantar-Zadeh
In the management of patients with chronic kidney diseases (CKD), a low-protein diet usually refers to a diet with protein intake of 0.6 to 0.8 grams per kilogram of body weight per day (g/kg/day) and should include at least 50% high-biologic-value protein. It may be supplemented with essential acids or nitrogen- free ketoanalogues if <0.6 g/kg/d. Low-protein diet can reduce proteinuria especially in non-diabetic CKD patients. In hypoalbuminemic patients it may lead to an increase in serum albumin level...
October 19, 2016: Panminerva Medica
Vladimir Dedovic, Goran Stankovic
Despite permanent improvement in success rate and technical developments, chronic total occlusion (CTO) remains undertreated by percutaneous coronary intervention (PCI). Dedicated CTO operators from Japan, Europe and USA perform these procedures with success rate beyond 90%, but there is still huge gap between this group of specialists and broader population of PCI operators. Recently proposed CTO scores can be used for patients' selection according to the CTO operators' experience. Patients with low CTO score values may be suitable for less experienced operators at the beginning of the CTO PCI learning curve, while more complex CTOs (higher CTO score values) should be differed to CTO experts...
October 19, 2016: Panminerva Medica
Nancy Sharma, Boris G Naraev, Eric G Engelman, M Bridget Zimmerman, David L Bushnell, Thomas M OʼDorisio, M Sue OʼDorisio, Yusuf Menda, Jan Müller-Brand, James R Howe, Thorvardur R Halfdanarson
OBJECTIVES: The objective of this study was to describe the outcomes of patients in the University of Iowa Neuroendocrine Tumor (NET) Database treated with peptide receptor radionuclide therapy (PRRT). METHODS: One hundred thirty-five patients from the University of Iowa NET Database who received PRRT were analyzed, their characteristics were described, and survival was calculated. RESULTS: The median age at diagnosis was 51 years, and 64% were men...
October 18, 2016: Pancreas
Molly Carnes, Paula Johnson, Wendy Klein, Marjorie Jenkins, C Noel Bairey Merz
Gender-based bias and conflation of gender and status are root causes of disparities in women's health care and the slow advancement of women to leadership in academic medicine. More than a quarter of women physicians train in internal medicine and its subspecialties, and women physicians almost exclusively constitute the women's health focus within internal medicine. Thus, internal medicine has considerable opportunity to develop women leaders in academic medicine and promote women's health equity.To probe whether holding an endowed chair-which confers status-in women's health may be an effective way to advance women leaders in academic medicine and women's health, the authors explored the current status of endowed chairs in women's health in internal medicine...
October 18, 2016: Academic Medicine: Journal of the Association of American Medical Colleges
Jingge Gao, Jihong Zeng, Bo Guo, Weimin He, Jun Chen, Fang Lu, Danian Chen
To study the clinical presentation and treatment outcome among children in South Western China with retinoblastoma (RB) and to determine factors predictive of poor outcome.A retrospective review of children diagnosed with RB from 2006 to 2015 at West China Hospital was undertaken. Demographic and clinical characteristics and treatment outcomes were studied.A total of 253 patients (unilateral 80.2%, bilateral 19.8%) were studied. Twenty six patients (10.3%) were from minority ethnic groups of China. The median onset age was 21 months...
October 2016: Medicine (Baltimore)
Tomasz Żądkowski, Paweł Nachulewicz, Maciej Mazgaj, Magdalena Woźniak, Czesław Cielecki, Andrzej Paweł Wieczorek, Iwona Beń-Skowronek
Treatment of hypertrophic scars arising as a result of thermal burns in children is still a big problem. The results of the treatment are not satisfactory for patients and parents, and new methods of treatment are still investigated.We present the use of one of the most modern carbon dioxide (CO2) lasers (Lumenis Encore laser equipped with a Synergistic Coagulation and Ablation for Advanced Resurfacing module) in the treatment of hypertrophic scars in children after burns.From March to April of 2013, a group of 47 patients aged 6 to 16 years underwent 57 laser surgery treatments...
October 2016: Medicine (Baltimore)
Rossella Letizia Mancusi, Massimo Andreoni, Daniela d'Angela, Cesare Sarrecchia, Federico Spandonaro
Between western European countries, the hepatitis C virus (HCV) endemic is highest in Italy. The main objective of this paper is to estimate the endemic diffusion of hepatitis C at the national level and by geographical area, with an extrapolation at the regional level and by uniform cohorts of subjects (by sex and year of birth). The secondary objective is a stratification by gravity of the estimated statistical figures to provide an overview of possible targets of the new anti-HCV treatments.PubMed and the Cochrane Library were searched for relevant Italian populations studies regarding HCV prevalence...
October 2016: Medicine (Baltimore)
David A Etzioni, Cynthia L Lessow, Heather D Lucas, Amit Merchea, James A Madura, Raman Mahabir, Nitin Mishra, Nabil Wasif, Amit K Mathur, Yu-Hui H Chang, Robert R Cima, Elizabeth B Habermann
OBJECTIVE: To characterize reasons for discordance between administrative data and registry data in the determination of postoperative infectious complications. BACKGROUND: Data regarding the occurrence of postoperative surgical complications are identified through either administrative or registry data. Rates of complications vary significantly between these two types of data; the reasons for this are not well-understood. METHODS: The occurrence of 30-day inpatient infectious complications (pneumonia, sepsis, surgical site infection, and urinary tract infection) was compared between the NSQIP and administrative mechanisms at 4 academic hospitals between 2012 and 2014...
October 17, 2016: Annals of Surgery
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