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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
Stefan J Lang, Bertan Cakir, Charlotte Evers, Franziska Ludwig, Clemens A K Lange, Hansjürgen T Agostini
BACKGROUND AND OBJECTIVE: The introduction of optical coherence tomography angiography (OCTA) provides new insights into the retinal vasculature. The aim of this study was to explore the value of OCTA in imaging retinal hemangioblastomas and monitoring laser treatment in patients with von Hippel-Lindau (VHL) disease. PATIENTS AND METHODS: Ten eyes of 10 patients with VHL disease were included in this retrospective case series. All patients underwent complete ophthalmological work-up including OCTA for retinal and optic nerve head hemangioblastoma...
October 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
John J Wroblewski, Allen Y Hu
BACKGROUND AND OBJECTIVE: To evaluate the effects of squalamine (OHR-102; Ohr Pharmaceuticals, New York, NY) and ranibizumab (Lucentis; Genentech, South San Francisco, CA) on macular edema (ME) secondary to retinal vein occlusion (RVO). PATIENTS AND METHODS: Twenty consecutive, treatment-naïve patients with RVO-related ME received topical squalamine and intravitreal ranibizumab 0.5 mg for 10 weeks, followed by randomization to continue or discontinue squalamine...
October 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Ademar Francisco de Oliveira, Gêssyca Adryene de Menezes Silva, Débora Milenna Xavier Almeida
Amyotrophic lateral sclerosis is a progressive and fatal neurodegenerative disease characterized by the degeneration of motor neurons, which are the central nervous system cells that control voluntary muscle movements. The excessive salivation (sialorrhea) is present in approximately 50% of amyotrophic lateral sclerosis cases. Thus, some alternative therapeutic methods are sought, such as anticholinergic drugs and surgery. Recently the use of botulinum toxin applied at a midpoint of the salivary glands, often guided by ultrasound, have demonstrated positive results...
July 2016: Einstein
Robson Azevedo Dutra, Adriana Cartafina Perez Boscollo
Background: The anorectal anomalies consist in a complex group of birth defects. Laparoscopic-assisted anorectoplasty improved visualization of the rectal fistula and the ability to place the pull-through segment within the elevator muscle complex with minimal dissection. There is no consensus on how the fistula should be managed. Aim: To evaluate the laparoscopic-assisted anorectoplasty and the treatment of the rectal urinary fistula by a bipolar sealing device...
July 2016: Arquivos Brasileiros de Cirurgia Digestiva: ABCD, Brazilian Archives of Digestive Surgery
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
Masateru Nagae, Yasuo Mikami, Kentaro Mizuno, Tomohisa Harada, Takumi Ikeda, Hitoshi Tonomura, Ryota Takatori, Hiroyoshi Fujiwara, Toshikazu Kubo
INTRODUCTION: Polymethylmethacrylate (PMMA) cement is useful for spinal reconstruction, but can cause complications including new vertebral fractures, neurological disorders and pulmonary embolism. We report a case in PMMA cement used for spinal reconstruction after tumor curettage dislodged and penetrated the gastrointestinal tract. DIAGNOSES: The patient was diagnosed with a retroperitoneal extragonadal germ cell tumor at age 27 years. After chemotherapy and tumor resection, the tumor remained...
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)
Jochen-Frederick Hernekamp, Florian Neubrech, Tomke Cordts, Volker J Schmidt, Ulrich Kneser, Thomas Kremer
PURPOSE: The clinical course after major burns is characterized by microcirculatory changes and consecutive capillary leakage. However, current clinical monitoring does not properly assess microcirculation, whereas macrohemodynamic changes are continuously evaluated. Here, we assess if macrohemodynamic and microhemodynamic parameters after burn trauma are correlated in a rat model. METHODS: Burn plasma harvested from donor rats 4 hours after thermal injury (30% total body surface area, 100 °C water, 12 seconds) was administered intravenously to healthy animals during 2 hours of intravital microscopy (burn group [BG])...
October 17, 2016: Annals of Plastic Surgery
Mariusz Papp, Piotr Gruca, Magdalena Lason-Tyburkiewicz, Paul Willner
Ketamine is the prototype of a new generation of antidepressant drugs, which is reported in clinical studies to be effective in treatment-resistant patients, with an effect that appears within hours and lasts for a few days. Chronic mild stress (CMS) is a well-established and widely used animal model of depression, in which anhedonia, anxiogenesis and cognitive dysfunction can be observed reliably. Studies using acute or brief ketamine treatment following withdrawal from CMS have replicated the clinical finding of a rapid onset of antidepressant action...
October 18, 2016: Behavioural Pharmacology
Justin C Chia, P Régine Mydlarski
PURPOSE: Omalizumab is a recombinant humanized monoclonal antibody that inhibits the binding of IgE to the high-affinity IgE receptor (FceRI) on the surface of mast cells and basophils. Omalizumab has been approved for use in asthma, and new reports show promise in a variety of dermatologic diseases. Herein, we review the literature on omalizumab in dermatology and discuss the safety, efficacy and mechanisms of action for this emerging therapy. MATERIALS AND METHODS: PubMED, MEDLINE, and Embase databases were searched for the period January 1, 1990, to September 1, 2016...
October 19, 2016: Journal of Dermatological Treatment
Paula D Bos
A prerequisite for tumor evolution toward a malignant state is the establishment of cell intrinsic and extrinsic mechanisms of immune suppression (Hanahan and Weinberg, 2000, 2011; Schreiber, Old, and Smyth, 2011). Widespread recruitment of Foxp3(+) regulatory T cells (TREG) is a prevailing means to dampen antitumor immunity. Advances in the characterization of TREG cell heterogeneity and physiological function of tissue resident TREG cells unfold new possibilities for nontraditional tumor-promoting functions of intratumoral TREG cells...
October 19, 2016: Immunological Investigations
N Aleksandrova, E Shubina, A Ekimov, T Kodyleva, I Mukosey, N Makarova, E Kulakova, L Levkov, D Trofimov, G Sukhikh
Chromosomal aneuploidies are known for being the main cause of abnormal development of embryos with normal morphology, their implantation failure and early reproductive losses in IVF treatments. Preimplantation genetic screening (PGS) allows selecting embryos with normal chromosomal content and increases IVF treatment efficiency due to higher implantation rates and less frequent early pregnancy losses. New technologies used for PGS allow making genome-wide analysis of the presence of all chromosomes in embryos...
October 2016: Gynecological Endocrinology
Daniel Nava Rodrigues, Gunther Boysen, Semini Sumanasuriya, George Seed, Angelo M De Marzo, Johann de Bono
Prostate cancer (PCa) is a clinically heterogeneous disease and current treatment strategies are based largely on anatomical and pathological parameters. In the recent past, several DNA sequencing studies of primary and advanced PCa have revealed recurrent patterns of genomic aberrations that expose mechanisms of resistance to available therapies and potential new drug targets. Suppression of androgen receptor (AR) signalling is the cornerstone of advanced prostate cancer treatment. Genomic aberrations of the androgen receptor or alternative splicing of its mRNA are increasingly recognized as biomarkers of resistance to AR-targeted therapy such as abiraterone or enzalutamide...
October 18, 2016: Journal of Pathology
Bernd Hohenstein
As a major event in the field of therapeutic apheresis, lipidology and immune-modulating extracorporeal treatments, Dresden hosted the 4(th) International Symposium on Therapeutic Apheresis 17-19 March 2016. In conjunction with the newly founded European Group - International Society for Apheresis, this meeting attracted more than 300 clinicians and scientists from more than a dozen European countries and further developed into an important event for participants, industry and nursing staff. Due to the relevant role of lipoprotein apheresis in Germany and the recent launch of PCSK9 inhibitors corresponding sessions, the symposium reflected all aspects of this new lipidological therapy in a number of sessions...
October 2016: Therapeutic Apheresis and Dialysis
Diva D De Leon, Charles A Stanley
Hypoglycemia continues to be an important cause of morbidity in neonates and children. Prompt diagnosis and management of the underlying hypoglycemia disorder is critical for preventing brain damage and improving outcomes. Congenital hyperinsulinism (HI) is the most common and severe cause of persistent hypoglycemia in neonates and children. Recent discoveries of the genetic causes of HI have improved our understanding of the pathophysiology, but its management is complex and requires the integration of clinical, biochemical, molecular, and imaging findings to establish the appropriate treatment according to the subtype...
October 18, 2016: Pediatric Diabetes
Sanka Amadoru, Kwang Lim, Mark Tacey, Craig Aboltins
AIMS: To explore differences in presentation and outcomes between younger and older patients with bacterial spinal infections. METHODS: Clinical, microbiological and radiological information was collected for patients at a single metropolitan hospital with spinal infections (spondylodiscitis, vertebral osteomyelitis, septic discitis, facet joint septic arthritis, and spinal epidural abscess) between January 2008 and January 2015. Patients were excluded if under 18 years of age, or if clinical and imaging findings were inconsistent with the diagnosis...
October 18, 2016: Internal Medicine Journal
Wen Zhou, John Thompson, Clifford Leznoff, Daniel Bernard Leznoff
The preparation and structural characterization of a series of chromium phthalocyanine complexes with multiple metal and ring oxidation states was achieved using PcCr(II) (1) (Pc = phthalocyanine) or PcCr(II)(THF)2 (1·THF2) as starting material. The reaction of soluble 1·THF2 with Br2 or I2 gave the PcCr(III) halide complexes PcCrX(THF) (X= I/I3, Br) (3, 4). Treatment of 1 with one-half equivalent of PhIO or air generated the dinuclear [PcCr(THF)]2(μ-O) (5), while the addition of one equivalent of AgSbF6 to 1 resulted in oxidation to THF-solvated octahedral [PcCr(III)(THF)2]SbF6 (6)...
October 17, 2016: Chemistry: a European Journal
Wenting Ai, Min Wu, Lin Chen, Baozhou Jiang, Mian Mu, Lihua Liu, Zuyi Yuan
The effects of ghrelin, a peptide hormone, on atherogenesis are mainly beneficial. This study aimed to investigate whether ghrelin ameliorates atherosclerosis (AS) by preventing endoplasmic reticulum stress (ERS). AS was induced by a high-fat diet in ApoE(-/-) mice. AS lesions in aortas were detected by Oil-red O staining, and the inner diameter and intima-media thickness (IMT) of the abdominal aorta were analyzed by ultrasonography. The protein expression of the ERS markers 78-kDa glucose-regulated protein, C/EBP homologous protein, and active caspase-12 was detected by western blot analysis...
October 18, 2016: Fundamental & Clinical Pharmacology
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