microdeletion syndromes are contiguous gene deletion syndromes of less than 5 megabases.  most often, many of these syndromes are not detectable by  routine chromosomal analysis and require more specific testing techniques such as fish or more accurate general coverage like array comparative genomic hybridization.  as many of these syndromes are phenotypically recognizable and allow for easy cl...

OBJECTIVE Mutations in LMNA have been linked to diverse disorders called laminopathies, which display heterogeneous phenotypes and include diseases affecting muscles, axonal neurons, progeroid syndromes, and lipodystrophies. Among the lipodystrophies, LMNA mutations have been reported most frequently in patients with familial partial lipodystrophy (FPLD) of the Dunnigan variety; however, phenot...

primary immunodeficiency diseases (pid) consist of a group of long-term illnesses which had permanent psychiatric effects on the patients and their parents. this study was designed to find out the most important origins and aspects of stressor in parents of pid patients.to assess the  impact of  psychiatric aspects in parents  of pid  patients, a valid and reliable questionnaire was compiled ba...

background and objectives: lipoprotein-a potentially represents a useful tool for risk stratification in cardiovascular accidents.  the aim of this study was to evaluate the atorvastatin effect on serum lipid profile & lipoprotein a. material & methods: in 2009, 405 patients with acute coronary syndrome randomly were divided into 2 groups, taking 20 & 40 mg atorvastatin daily for 3...

introduction: congenital anomalies are a common cause of disability and mortality in newborns and their treatments involves high costs for the society. this study aimed to investigate the prevalence of congenital anomalies and their causes. materials and methods: this research was a descriptive-analytical study and the population included all the newborns in hospitals of the city of ilam in 201...

coincidence of autoimmune diseases such as immune thrombocytopenic purpura (itp) with  immunodeficiencies has  been  reported  previously in  patients  who  suffered  from primary antibody deficiency (pad). but there is no original study on immunological profiles of itp patients to find out their probable immune deficiency. in this case-control study, itp patients’ humoral immunity was investig...

background: the use of organophosphates (ops) in developing countries is rising in large quantities and non-secure methods. this problem not only causes acute poisoning but also may lead to chronic diseases such as polyneuropathy. in iran, 60% of pesticides are organophosphate compounds that may lead to delayed polyneuropathy. objectives: the purpose of the current study was to evaluate delayed...

purpose: to evaluate the prevalence and risk factors of dry eye in the patients referred to an eye clinic in birjand, iran. methods: this cross sectional descriptive-analytical study consisted of 600 patients who were referred to the eye clinic of birjand, iran between september 2010 and september 2011. they were given a simple questionnaire about the risk factors of dry eye including the demog...