نتایج جستجو برای: hsan type iv

تعداد نتایج: 1486865  

1995
André Streilein

Although there is an unchanged demand for the recording and documentation of the cultural heritage, modern acquisition and analysis techniques are rarely used. The paper shows results of the application of videogrammetry and CAAD for the architectural restitution, contributing thus to the CIPA test “Wagner-Pavillon”. The images were acquired with a S-VHS camcorder, which today are considered to...

Journal: :Journal of neurology, neurosurgery, and psychiatry 2005
V Donadio P Montagna M Nolano P Cortelli C Misciali G Pierangeli V Provitera A Casano A Baruzzi R Liguori

Generalised anhidrosis (GA) shows a uniform clinical picture whether the pathogenesis involves intrinsic abnormalities of sweat glands or postganglionic sympathetic cholinergic nerve dysfunction. We describe two patients who presented intolerance to heat and anhidrosis. In the first patient, symptoms started at 33 years of age, and were associated with absent tendon reflexes and a mydriatic rig...

2009
V. De Laet K. Lambers

Introduction Over the last few years, a new generation of satellite sensors has provided an unprecedented variety of remotely sensed imagery with a spatial resolution of 1 m and better. These images allow for the first time even small archaeological sites and features to be detected, which is a huge step forward for archaeological prospection: “For three decades archaeologists have waited for a...

2013
Derrick C. Wan

Hereditary sensory and autonomic neuropathies (HSAN) are a diverse group of diseases involving the peripheral nervous system. Patients present with profound distal sensory loss and variable degrees of autonomic disturbances. Multiple subtypes have been defined based on clinical symptoms and genetic testing. We present a case report of a nine month-old female with recurrent hand lesions and an a...

Journal: :Rinsho shinkeigaku = Clinical neurology 2014
Hiroshi Takashima

Inherited neuropathy is a genetically and clinically heterogeneous group of neuropathies, the main category becomes Charcot-Marie-Tooth neuropathy (CMT), also known as hereditary motor and sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN), and hereditary sensory autonomic neuropathy (HSAN). At least 80 genes have been associated with CMT, HMN or HSAN, a precise molecular diag...

2002
Walter Schuhr Erich Kanngieser

As a submission of the Co-Chair of CIPA Task Group 2, this paper deals with practical experiences from using single images in conservation. In particular it deals with modern methods for using single images in conservation as gained from surveying the eldest houses of Parliaments of the Western hemisphere, which is part of the antique sites of Patara (Turkey). It is the main intention of this p...

Journal: :Acta neurobiologiae experimentalis 2015
Magdalena Mroczek Dagmara Kabzińska Andrzej Kochański

Hereditary sensory and autonomic neuropathies (HSANs) represent a group of heritable peripheral nerve disorders usually taking a severe clinical course. HSAN-affected patients manifest with deep, poorly-healing ulcerations of the feet and hands. To date no definitive cure for HSANs has been developed and the molecular pathology of these disorders is complex. The aim of this review is therefore ...

Journal: :Human molecular genetics 2014
Andrew Ferrier Tadasu Sato Yves De Repentigny Sabrina Gibeault Kunal Bhanot Ryan W O'Meara Anisha Lynch-Godrei Samantha F Kornfeld Kevin G Young Rashmi Kothary

A newly identified lethal form of hereditary sensory and autonomic neuropathy (HSAN), designated HSAN-VI, is caused by a homozygous mutation in the bullous pemphigoid antigen 1 (BPAG1)/dystonin gene (DST). The HSAN-VI mutation impacts all major neuronal BPAG1/dystonin protein isoforms: dystonin-a1, -a2 and -a3. Homozygous mutations in the murine Dst gene cause a severe sensory neuropathy termed...

ژورنال: :مجله میکروب شناسی پزشکی ایران 0
علیرضا سلیمی چیرانی alireza salimi chirani department of medical microbiology, school of medicine, shahid beheshti university of medical sciences, tehran, iran.گروه میکروب شناسی پزشکی، دانشکده پزشکی، دانشگاه علوم پزشکی شهید بهشتی، تهران، ایران. حسین دبیری hossein dabiri department of medical microbiology, school of medicine, shahid beheshti university of medical sciences, tehran, iran.گروه میکروب شناسی پزشکی، دانشکده پزشکی، دانشگاه علوم پزشکی شهید بهشتی، تهران، ایران. ایرج نیکوکار iraj nikokar منیره ابراهیم پور کومله monireh ebrahim pour komleh فرحنوش دوستدار frahnoosh dousdar حسین گودرزی hossein goudarzi فاطمه فلاح

زمینه و اهداف: پیلی نوع چهار سودوموناس آئروژینوزا با عملکرد های گوناگون، واسطه ای مهم در به وجود آمدن تنوع در ساختار ژنومی باکتری محسوب می شود. بر اساس طبقه بندی رایج، دو زیر گونهiva ، ivb پیلی نوع چهار توسط ژن هایpila  و pils2  که کد کننده زیر واحد های اصلی دو زیر گونه پیلی می باشند سنتز می شوند. هدف این مطالعه بررسی میزان فراوانی ژن های pila و pils2 به عنوان شاخص زیر گونهiva ، ivb از پیلی نوع...

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