Initial reports of patients with laminin alpha2 chain (merosin) deficiency had a relatively homogeneous phenotype, with classical congenital muscular dystrophy (CMD) characterised by severe muscle weakness, inability to achieve independent ambulation, markedly raised creatine kinase, and characteristic white matter hypodensity on cerebral magnetic resonance imaging. We report a series of five p...

Objective: To investigate the development and clinical characteristics of flail leg syndrome (FLS) improve clinicians’ recognition ability disease. \quad Method：We reviewed data, electromyography, cerebrospinal fluid test, lumbar MRI a patient diagnosed with syndrome(FLS) in seventh Affiliated Hospital Sun Yat-sen University. Results: Clinical symptoms limited both lower limbs, including asymme...

Background. Traditional Chinese medicine (TCM) has long been used to treat chronic atrophic gastritis (CAG). The aim of the present study was to evaluate the TCM syndrome characteristics of CAG and its core pathogenesis so as to promote optimization of treatment strategies. Methods. This study was based on a participant survey conducted in 4 hospitals in China. Patients diagnosed with CAG were ...

Klinefelter syndrome is characterised by advancing testicular function deterioration causing aspermatogenesis and androgen deficiency. Klinefelter patients characteristically have complete male sex differentiation, and genital anomalies are infrequently associated. Penoscrotal malformations at birth are very rare in this syndrome. Nonetheless, it is important to know the association, as one of...

The pathogenesis of post-cardiac injury syndrome was studied prospectively in 62 patients who underwent coronary bypass grafting. Preoperative and serial postoperative titres of actin and myosin antibodies were measured by an enzyme linked immunosorbent assay. Perioperative cumulative release of serum aspartate and alanine aminotransferases, lactate dehydrogenase, and creatine kinase was calcul...

2 cases of laurence- moon-biedl syndrome are described in 2 rothers. they have 5 out of 6 cardinal symptoms of this syndrome i.e. : i) obesity ,2) genital dystrophia, 3) retinitis pigmentosa, 4)menal deficiency, 5) familial occurrence. besides, their only sister has ocular signs of beginning of retinitis igmentosa and one of their relatives had polydactylism and another ne cretinism. what is cu...

introduction: megaloblasc anemia is an uncommon problem in childhood most frequently associated with vitamin deficiency or gastrointesnal disease. the common causes of megaloblasc anemia are vitamin b12 (cobalamin) deficiency and folic acid deficiency. familial selecve malabsorpon of vitamin b12 associated with proteinuria firstly was described by imerslund (1960) and grasbeck et al (1960)...