GH therapy has been applied to patients with Turner syndrome for over a decade, but small sample size, delayed initiation of therapy into adolescent age and comparison with historical control subjects limit the usefulness of these studies for appraisal of the effect of GH on final adult height. We report 49 young women with Turner syndrome who completed a clinical trial in an open, non-randomiz...

Mucopolysaccharidoses (MPS) are severe inherited metabolic disorders caused by storage of glycosaminoglycans (GAGs). The level of accumulated GAGs is an important parameter in assessment of the severity of the disease and the efficacy of treatment; unfortunately, biochemical methods are often unreliable and only semi-quantitative. Therefore, finding other methods for estimation of GAG levels an...

lysosomal storage diseases (lsds) result from a genetic defect in synthesis and cellular transport of lysosomal enzyme to the lysosomes. lsds are progressive and may present at any age affecting multiple tissues and organ systems. they comprise a diverse group of over 40 clinically distinct inherited disorders. as a group they occur in approximately 1 in 5000 to 8000 births in the western socie...

to evaluate the effectiveness of conjugated estrogen (premarin) and progesterone in twenty-one postmenopausal women who had been menopause one year, we tested during a 6-month period the serum lipoprotein levels in subjects who offered by premarin in dosage of 0.625 milligram for days 1 to 25 and oral medroxy progestrone acetste for days 15 to 25 of a 30-day cycle. twenty-one subjects completed...

BACKGROUND Hormone replacement therapy is used for the relief of menopausal symptoms. In the United Kingdom, guidelines have been developed for the use of hormone replacement therapy in the prevention of osteoporosis, and in the United States of America its use has also been recommended for cardiovascular disease prevention. However, compliance has been found to be a problem, and rates of presc...

neonatal purpura fulminans is a rare and life threatening disease that can be inherited or acquired in etiology. it manifests as dic and extensive subcutaneous thrombosis. the condition is often fatal unless there is prompt diagnosis, and judicious therapy. the most important causes of this condition are infections and congenital deficiency of anticoagulant proteins c and s.in the case of pc (p...

Background: Statistics have shown that the rate of technical failure in peritoneal dialysis (PD) is greater than hemodialysis. In this regard, the present study is aimed to determine the prevalence and risks factors of technique failure of PD in Iranian children using the country’s computerized PD data registry system. Materials and Methods: </st...

OBJECTIVES To determine the period prevalence, demographic characteristics, cost of treatment, and outcomes of patients admitted to the intensive care unit for continuous renal replacement therapy. DESIGN Descriptive case series. SETTING Intensive Care Unit in a Hong Kong tertiary referral, teaching hospital. PATIENTS All patients admitted to the Intensive Care Unit from January to Decemb...

The objective of this exploratory qualitative study was to describe (1) the key factors affecting women's initial decision to explore the use of bioidentical hormone, (2) where women gather their information on bioidentical hormones, (3) the enablers and barriers to obtaining bioidentical hormones, and (4) how to improve the bioidentical hormone replacement therapy access path. The study was co...

background: gaucher disease is a lysosomal storage disorder due to deficiency of glucocerebrosidase enzyme. in this study, a case of enzyme-treated woman during her pregnancy was reported. case presentation: a 27-year old woman with type i gaucher disease was managed for pregnancy until delivery. she underwent elective splenectomy at age 26 years and was treated with 19-38 units/kg of imiglucer...