Parkinson’s disease (PD) is a prevalent neurodegenerative disease that usually affects individuals over 50 years of age. Age at onset in a small subset of PD cases is considerably lower, and these are considered early-onset PD (EOPD) patients. Most PD cases appear sporadic, but approximately 15% are familial, and some of the familial cases exhibit Mendelian inheritance. Genetic analysis of fami...

the aim of the clinical laboratory in endocrine disease diagnosis and management is detecting either the hormones or their downstream reaction metabolites or some other related substances. in the case of hormone measurement almost all the routine methods are based on immunoassay with different labels (radioimmunoassay, enzyme linked immunosorbant assay, chemiluminescence assays …) and different...

Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...

Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy of the peripheral nervous system with a wide range of severity and age of onset. CMT patients share similar phenotypes which make it often impossible to identify the disease types based on clinical presentation and electrophysiological studies alone. In recent years, novel genetic diagnostic approaches such as whole exom...

materials and methods in this case-control study, using the polymerase chain reaction (pcr), adrs266729 and rs2241766 gene polymorphisms were genotyped in b-type ultrasonography-proven nafld patients, with (n = 246) or without (n = 247) cad and in healthy controls (n = 304). serum lipid profiles were determined using biochemical methods. statistical analyses were performed using spss 17.0 stati...

objective: low density lipo-protein receptor- related protein (lrp) is the most important cholesterol receptor in neurons. it serves as a receptor for apoe protein which is the most important risk factor for alzheimer’s disease. lrp also contributes to the ligation of lipoproteins with apoe in neurons. association between lrp c766t and alzheimer’s disease in iranian patients with late onset alz...

x-linked agamaglobulinemia (xla) or bruton’s disease is a genetic disease resulting from a mutation in the bruton’s tyrosine kinase (btk) gene. this mutation leads to b cell arrest during differentiation (1). this disease was first described by ogden bruton in 1952 (2). approximately 85% of the affected subjects are male (3). this disorder is inherited as an x-linked recessive trait. carrier fe...

X-linked agamaglobulinemia (XLA) or Bruton’s disease is a genetic disease resulting from a mutation in the Bruton’s tyrosine kinase (Btk) gene. This mutation leads to B cell arrest during differentiation (1). This disease was first described by Ogden Bruton in 1952 (2). Approximately 85% of the affected subjects are male (3). This disorder is inherited as an X-linked recessive trait. Carrier fe...