The study was performed to determine whether there is a structural vascular abnormality in normotensive subjects with hypertensive relatives. We examined maximal vasodilator capacity of forearm resistance vessels in 23 normotensive young men (mean blood pressure 94 +/- 0.4 mm Hg, mean +/- SE) with hypertensive relatives (age 24 +/- 0.1 years) and in 17 normotensive subjects (mean blood pressure...

Fibrodysplasia Ossificans Progressiva (FOP, MIM 135100) is a rare genetic disease that is often inherited sporadically in an autosomal dominant pattern. The disease manifests in early life with malformed great toes and, its episodic and progressive bone formation in skeletal muscle after trauma is led to extra-articular ankylosis. In this study, a 17 year-old affected girl born to a father with...

INTRODUCTION Systemic lupus erythematosus is a genetically complex disease. Currently, the precise allelic polymorphisms associated with this condition remain largely unidentified. In part this reflects the fact that multiple genes, each having a relatively minor effect, act in concert to produce disease. Given this complexity, analysis of subclinical phenotypes may aid in the identification of...

Abstract Background: Β-thalassemia is known as the most common inherited form of anemia worldwide and Iran. Considering high birth rate in the province, it seem necessary to study demographic factors and to assess common laboratory tests in order to find out whether  patients receive adequate care or not. Materials and Methods:  A cross–sectional descriptive analyti...

BACKGROUND AND AIMS Although most cases of hereditary haemochromatosis are associated with homozygosity for the C282Y mutation of the HFE gene, clinical penetrance varies and other genes may modify disease expression. If so, relatives from clinically affected families, by inheriting such genes, may accumulate more iron. To seek evidence for this, we compared iron status and morbidity in unselec...

background : type 1 diabetes mellitus (t1dm) is an autoimmune disease characterized by selective destruction of pancreatic beta cells.   methods: the study included 80 children, 20 of them have t1dm, 40 children were selected from first degree relatives to the same child and 20 healthy children serve as control. body mass index (bmi) was calculated, random blood glucose and glycosylated hemoglo...

OBJECTIVES To determine (1) detailed retinal and audiological features of probands harboring the A3243G mitochondrial DNA mutation (m.3243A>G) and their asymptomatic maternal relatives, (2) intrafamilial and interfamilial phenotypic variability, and (3) the presence of other systemic features. METHODS Seven probands harboring the A3243G mitochondrial DNA mutation and 36 asymptomatic maternal ...

1 . The results of ambulatory blood pressure control in nineteen patients who were hypertensive on oral contraceptives are presented. 2. Withdrawal of the oral contraception in this group of patients reduced the average blood pressure significantly. Seven of the patients became normotensive after stopping the medication. 3. Hypertension was found among the relatives of the patients in twelve ca...

Background: In sub-Saharan Africa (SSA), the trend in the number of patients admitted for maintenance hemodialysis is on the rise. The identification of risk factors for chronic kidney disease (CKD) ensures adequate primary and secondary preventive measures geared at reducing the burden of CKD in low-resource settings. A family history of CKD is an established risk factor for C...

The patients all had a diagnosis of primary gout, i.e. they had a characteristic history of acute episodic arthritis with a serum uric acid level above 6 mg./100 ml. and no evident underlying cause for hyperuricaemia. The investigation was carried out before treatment with uratelowering drugs was started. The nature of the study was explained to them and to as many as possible of their adult fi...