BACKGROUND Type 1 diabetes mellitus is the most common endocrine disease in pediatric. We aimed to determine the demographic characteristics at presentation of childhood type 1 diabetes mellitus in Hamadan, west province of Iran. METHODS In this cross sectional descriptive study, demographic data of children with type 1 diabetes mellitus being followed up in Pediatric Endocrinology Clinic of ...

Coronary Artery Disease (CAD) is a multifactorial disease with acquired and inherited components. This study aim was to evaluate the function of MPO in discriminating angiographic CAD result, to demonstrate the role of SNPs 599839-12487736 in early onset of CAD and to isolate the role of genetics by exploring the concomitant effect of consanguinity and disease family history in determining risk...

BACKGROUND: Consanguinity is defined as the marriage between close relatives. The deleterious effects associated with consanguinity may be caused by the expression of rare recessive genes inherited from common ancestors. AIMS AND OBJECTIVES: The present study was undertaken to analyze the effect of consanguinity on chromosomal abnormality (CA). METHODS AND MATERIALS: During last 6 years period,...

PURPOSE To promote awareness of primary immunodeficiency (PID), the "10 warning signs" of PID and an immunodeficiency-related (IDR) score were developed. However, their efficiency in identifying PID cases was not sufficiently evaluated in clinical practice. The objective of this study was to test the validity of the 10 warning signs and IDR score in identifying PID among children with recurrent...

Many attempts have been made to define consistent clinical and pathological entities within the syndrome of progressive myoclonus epilepsy. The existence of a specific metabolic defect underlying one form of the disease is suggested by the presence of characteristic cerebral inclusion bodies (Lafora and Glueck, 1911) and of material with similar staining properties in liver and muscle (Harriman...

BACKGROUND Saudi population is unique in that there is a strong preference for cousin marriages in the general population. We studied the prevalence of consanguinity in educated Saudi females and compared the results with the results obtained in their parents, to access if a generation difference in which extensive educational activities have prevailed to inform the people of the influence of c...

SIR, I read with interest the case report of a 1-yr-old girl with systemic juvenile idiopathic arthritis and Kikuchi’s disease, who later developed haemophagocytic lymphohistiocytosis (HLH), and its successful management [1]. Diagnostic criteria for HLH were published in 1991 [2]. The diagnosis of HLH requires the presence of all five criteria (fever >38.5 C for 7 or more days, palpable splenom...