نتایج جستجو برای: limb defect

تعداد نتایج: 165469  

Journal: :Genome research 2016
Malte Spielmann Naseebullah Kakar Naeimeh Tayebi Catherine Leettola Gudrun Nürnberg Nadine Sowada Darío G Lupiáñez Izabela Harabula Ricarda Flöttmann Denise Horn Wing Lee Chan Lars Wittler Rüstem Yilmaz Janine Altmüller Holger Thiele Hans van Bokhoven Charles E Schwartz Peter Nürnberg James U Bowie Jamil Ahmad Christian Kubisch Stefan Mundlos Guntram Borck

The CRISPR/Cas technology enables targeted genome editing and the rapid generation of transgenic animal models for the study of human genetic disorders. Here we describe an autosomal recessive human disease in two unrelated families characterized by a split-foot defect, nail abnormalities of the hands, and hearing loss, due to mutations disrupting the SAM domain of the protein kinase ZAK. ZAK i...

Journal: : 2022

Limb Girdle Muscular Disease (LGMD) comprise a group of inherited muscular distrophy with chronic progressive weakness hip and shoulder girdles. The inheritance pattern is either autosomal dominant (LGMD1) or recessive (LGMD2). LGMD 2A known as calpainopathy in which there was defect gene encoding the protein named calpain. There are three phenotypes according to distribution muscle age at onse...

Journal: :In vivo 2007
George S Themistocleous Haralampos A Katopodis Lubna Khaldi Apostolos Papalois Charles Doillon Antigone Sourla Panayotis N Soucacos Michael Koutsilieris

BACKGROUND Three-dimensional (3-D) type I collagen gel culture systems allow long-term growth of osteoblast-like cells, in vitro. Whether the implantation of 3-D collagen systems can stimulate new bone formation was assessed in male rabbits. MATERIALS AND METHODS A 10-mm segmental diaphyseal defect was surgically produced at the left and right limbs of 50 adult male rabbits. The 3-D systems c...

2013
Kushagra Sinha Vijendra D. Chauhan Rajesh Maheshwari Neena Chauhan Manu Rajan Atul Agrawal

Background. This study was performed to evaluate the results of vacuum assisted wound therapy in patients with open musculoskeletal injuries. Study Design and Setting. Prospective, randomized, and interventional at tertiary care hospital, from 2011 to 2012. Materials and Methods. 30 patients of open musculoskeletal injuries underwent randomized trial of vacuum assisted closure therapy versus st...

Journal: :Brain and cognition 1990
D N Levine

A theory is proposed to account for unawareness of blindness, hemianopsia, and hemiplegia, and for phantom limb after amputation. It is assumed that interruption of a sensory pathway at any level--from peripheral nerve to primary sensory cortex--is not associated with any immediate sensory experience that uniquely specifies the defect. Instead the sensory loss must be discovered by a process of...

2015
R. Bozatlıoğlu A. P. Münevveroğlu

Nager syndrome is a rare syndrome resulting from developmental abnormalities of the first and second branchial arches. Nager syndrome is rare and mostly sporadic. The main clinical features consist of craniofacial, limb, and musculoskeletal morphogenesis. These findings included malar hypoplasia, maxillomandibular hypoplasia, micrognathia, downslanting palpebral fissures, cleft palate, ear anom...

Journal: :Teratology 2002
Mason Barr Loraine Oman-Ganes

BACKGROUND A female fetus with massive truncal-limb hydrops and large, loculated, nuchal hygromas in midgestation is highly likely to have Turner syndrome. This phenotype is recognized to be usually lethal, with only more mildly affected fetuses surviving to term birth. METHODS The morphology and morphometrics of 117 midgestation fetuses with phenotypic Turner syndrome were analyzed. RESULT...

2017
Fu-Yang Mei Zhi-Xuan Bai Zhi-Bin Hu Bing Zhou Yong Cui

BACKGROUND Partial anomalous pulmonary venous connection (PAPVC) without an atrial septal defect (ASD) associated with coarctation of the aortic arch is a rare congenital cardiac anomaly. This rare combination is only described in a few studies; none report the correction of these two malformations in a single surgery. CASE PRESENTATION A 5-year-old girl was admitted to our hospital because t...

Journal: :Journal of surgical orthopaedic advances 2010
Michael J Beltran Leah M Ochoa Richard M Graves Joseph R Hsu

The purpose of this article is to describe the use of shortening and angulation to manage composite bone and soft tissue loss associated with combat-related type IIIB open tibia fractures. Four patients underwent placement of a software-driven circular fixator with acute shortening and angulation to manage composite bone and soft tissue loss. Frames were applied using the Rings First Method, an...

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