Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness and specific structural changes in muscle fiber. Congenital myopathy with fiber type disproportion (CFTD) is an established disorder of congenital myopathy. CFTD is characterized by non-progressive childhood neuromuscular disorders with a relatively good prognosis and type 1 fiber pr...

conclusions our study demonstrated that 3d tvs has a good efficacy and reliable agreement with hysteroscopy in diagnosis of uterine lesions among infertile women. therefore, it can decrease the number of diagnostic hysteroscopies. results totally, 153 women were recruited in the investigation. patients aged 30.78 ± 4.79 years in average and the duration of infertility was 4.2 ± 2.91 years among...

congenital vascular lesions occur most often in children. parents of these children take them to maxillofacial surgeons directly or during the treatment of other complications such as infection or jaw bone disorders. various terms now used are unable to describe the pathogenesis and mechanism of the effect of vascular lesions on growth and development of facial bone.  term of hemangioma is used...

Among bleeding disorders, hemophilia A, hemophilia B and von Willebrand diseases are the most commonly occurring, whereas deficiencies of other coagulation factors are rare worldwide. Unlike hemophilias, which are X-chromosome linked disorders, the inheritance pattern of the rare coagulation factor deficiencies is generally autosomal recessive. In literature, association of these factor deficie...

Notch signaling regulates a vast array of crucial developmental processes. It is therefore not surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of congenital disorders in humans. For example, loss of function of Notch results in Adams-Oliver syndrome, Alagille syndrome, spondylocostal dysostosis and congenital heart disorders, while Notch gain of function...

Aplastic anaemia and red cell aplasias may be congenital or acquired. It has been usual to consider the acquired and inherited types as quite distinct but it is becoming evident as the genetic bases of the inherited diseases become better understood that some cases labelled acquired may be late onset genetic disorders. Furthermore, knowledge of the pathophysiology of the inherited disorders may...

This review focuses on congenital myopathies, a distinct but markedly heterogeneous group of muscle disorders that present with muscle weakness and typically appear at birth or in infancy. These myopathies have characteristic histopathologic abnormalities on muscle biopsy, allowing a preliminary morphologic classification. Advances in molecular genetics have allowed a more rational classificati...

background: various uterine disorders lead to infertility in women of reproductive ages. this study was performed to describe common uterine causes of infertility and sonographic evaluation of them for midwives.   methods:to study the literatures, manuscripts published at “pubmed”, “elsevier”, “google scholar”, “sid” and original text books, between 1985 and 2015, were carefully reviewed, using...

©2006 British Editorial Society of Bone and Joint Surgery doi:10.1302/0301-620X.88B3. 17357 $2.00 J Bone Joint Surg [Br] 2006;88-B:295-7. Several locomotor disorders in children that come to the attention of orthopaedic surgeons have their origin in fetal life and present as congenital anomalies. These include cerebral palsy (which may be considered as a congenital anomaly as, in the majority o...