metastasis of gastroesphageal junction (gej) adenocarcinoma in skeletal muscle is rare and primary sites for skeletal muscle metastases are usually lung, renal and colorectal cancer. we have encountered with the first case report of solitary psoas muscle metastasis of gej adenocarcinoma. here we describe a 65 years old man was diagnosed with gej adenocarcinoma in tertiary hospital, tehran, iran...

background and objectives: sarcopenia is explained as the loss of muscle strength and muscle mass with aging‚ and is one of the major risk factors for metabolic diseases. cross-sectional studies demonstrate that vitamin d is associated with sarcopenia in both men and women. the aim of this study was to investigate the effect of vitamin d supplement consumption on muscle strength, muscle functio...

A rat colony with mucopolysaccharidosis VI was established and the clinical, pathological, and biochemical features were characterized. Affected rats had facial dysmorphia, dysostosis multiplex, and increased urinary excretion of glucosaminoglycans (GAGs). Ultrastructural studies revealed storage of GAGs throughout the reticuloendothelial cells, cartilage, and other connective tissues, but no d...

Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous developmental disorder characterized by facial dysmorphia, upper limb malformations, growth and cognitive retardation. Mutations in the sister chromatid cohesion factor genes NIPBL, SMC1A and SMC3 are present in approximately 65% of CdLS patients. In addition to their canonical roles in chromosome segregation, the cohesin proteins ...

Nephrotic syndrome (NS) rarely develops before the age of 1 year. The case is presented of nephrotic syndrome occurring in the form of Denys-Drash syndrome. In a newborn of female sex in birth certificate, dysmorphia was found of the external urogenital organs. The karyotype was 46XY. Massive proteinuria, low total serum protein level, dysproteinaemia, hypercholesterolaemia justified the diagno...

Jones and Smith 1 coined the term fetal alcohol syndrome (FAS) to label a pattern of altered growth and morphogenesis observed in a group of children born to alcoholic mothers. This pattern of dysmorphia included a cluster of facial anomalies (e.g., short palpebral fissures), growth retardation, and evidence of central nervous system (CNS) involvement (e.g., microcephaly and developmental delay...

Background. Cystic fibrosis-associated liver disease (CFLD) is a major cause of death. The objective of our retrospective study was to describe the relevance of magnetic resonance imaging (MRI) and liver stiffness measurement (LSM) for CFLD evaluation. Methods. All cystic fibrosis adult patients evaluated by MRI and LSM were included. MR signs of portal hypertension (PHT), dysmorphia, or cholan...

A25-year-old woman was referred at 31 weeks’ gestation for prenatal echocardiography because routine obstetrical sonography had detected a cardiac malformation. Pregnancy to that point had been normal. Four-chamber and great-vessel views allowed the diagnosis of truncus arteriosus with an abnormal dilatation of the pulmonary tree (Figure 1 and Movie I). An in situ hybridization study performed ...