Our report clarifies the role of ATP6V1B2 in patients with deafness and onycho-osteodystrophy and confirms that a recurring ATP6V1B2 c.1516C>T [p.(Arg506*)], variant causes dominant deafness-onychodystrophy (DDOD) syndrome.

purpose our study aims to investigate the effectiveness of other treatment methods for burn related scarring and to determine the possibility of their routine administration in similar clinical settings. methods through a prospective study, 66 patients were enrolled to receive either the conventional pressure garment therapy (pgt) and silicone (control group) or exercise and physiotherapy (case...

Bone histomorphometry has been the gold standard in the evaluation and diagnosis of renal osteodystrophy. The recent new definition of renal osteodystrophy as chronic kidney disease-mineral and bone disorder has once again highlighted the use of bone biopsy as a powerful and diagnostic tool to determine skeletal abnormalities in chronic kidney disease. The procedure of iliac crest bone biopsy h...

We describe a boy who presented at 4 years of age with radiological hyperparathyroidism, osteosclerosis, and necrosis of the femoral heads. Plasma biochemistry was normal but the parathyroid hormone (PTH) level was very high. He was deaf and had an unusual facies but did not have the phenotype of Albright's hereditary osteodystrophy. Plasma and urine cyclic AMP reponses to bovine PTH were marke...

Changes in mineral and bone metabolism are prevalent in chronic kidney disease. There are several types of renal bone disease, called 'renal osteodystrophy (ROD)'. ROD includes osteitis fibrosa, osteomalacia, adynamic bone disorder, and mixed osteodystrophy. Osteitis fibrosa is high turnover bone due to secondary hyperparathyroidism. Osteomalacia is low turnover bone concomitant of increased os...

introduction: osteodystrophy is one of the long term complications of chronic renal failure and is expressed in two formslow turn over and high turn over. it is an important cause of morbidity in patients with renal failure and if diagnosed and managed properly, many problems of these patients can be resolved. in this study we evaluated the prevalence of hyperparathyroidism in hemodialysis pati...