Background Premature ovarian failure (POF) is a disorder of multi causal etiology. Autoimmunity has been proposed as a mechanism for some cases of ovarian follicle dysfunction which is evident in POF. The aim of this study was to identify the level of auto-antibodies in POF and familial POF patients. MaterialsAndMethods In this study, auto-antibodies including anti-ovarian antibody (AOA), anti ...

there are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in infants. the authors report a neonate affected by familial hyperchylomicronemia, while being investigated for sepsis the serum sample obtained for blood counts was discovered to be lipaemic and the case was subsequently investigated for dyslipidemia. based on this very abnormal lipid profile...

In this review we have aimed to focus on the clinical management of familial melanoma patients and their relatives. Along this line three major topics will be discussed: (1) management/screening of familial melanoma families: what is advised and what is the evidence thereof; (2) variability of families worldwide with regard to clinical phenotype, including cancer spectrum and likelihood of find...

BACKGROUND Familial hypomagnesemia with secondary hypocalcemia is a genetic disorder of magnesium metabolism that presents with refractory seizures in infancy. CASE CHARACTERISTICS We herein report an infant with familial hypomagnesemia who presented as medically-refractory seizures and had cerebral atrophy on neuroimaging. Interestingly he had lost previous two siblings because of lack of co...

Background Causative genetic variants have to date been identified for only a small proportion of familial colorectal cancer (CRC). While conditions such as Familial Adenomatous Polyposis (FAP) and Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer, HNPCC) are caused by well defined genetic defects, the search for variants underlying the remainder of familial CRC is plagued by genetic he...

Background: It is unknown whether progression of familial idiopathic dilated cardiomyopathy differs from progression in the non-familial form. It has been suggested that familial disease indicates a worse prognosis, and that this should be considered when planning the timing of heart transplantation. Objective: To compare five year survival or time to heart transplantation in an unselected seri...

BACKGROUND It is unknown whether progression of familial idiopathic dilated cardiomyopathy differs from progression in the non-familial form. It has been suggested that familial disease indicates a worse prognosis, and that this should be considered when planning the timing of heart transplantation. OBJECTIVE To compare five year survival or time to heart transplantation in an unselected seri...

This thesis is based on the following original publications, which are referred to in the text by Roman numerals. pharmacodynamics of pravastatin in children with familial hypercholesterolemia. Efficacy and safety of pravastatin in children and adolescents with heterozygous familial hypercholesterolemia: a prospective clinical follow-up study. noncholesterol sterols in children with familial hy...

patients and methods this cross-sectional study was performed on 1202 ms patients in farshchian hospital, hamadan, in 2013. all patients were diagnosed with definite ms. a questionnaire was used to gather information; demographic characteristics, medical history, signs and symptoms at onset, course of disease, relatives with ms, and degree and type of relationship were recorded. conclusions the...