background: hereditary angioedema (hae) is a rare autosomal dominant primary immunodeficiency with complement system defect characterized by recurrent episodes of angioedema involving the skin or mucosa of the upper respiratory and gastrointestinal tracts. objective: to characterize the clinical and laboratory data of hereditary angioedema in iran. methods: patients with probable diagnosis of a...

hereditary spastic paraplegias are highly heterogeneous neurodegenerative disorders with some special mutations. we report on a patient with pescavus, distal a myotrophy, hyper extended fingers, and pectus excavatum. neurological examination showed that he had proximal lower limbs weakness with a positive gower sign, exaggerated lower limbs deep tendon reflexes with spasticity, distal muscle wa...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy in which reduced NADPH concentrations are not maintained, resulting in oxidative damage. We evaluated G6PD activity, oxidative stress levels and Trolox equivalent antioxidant capacity in individuals with the A-(202G>A) mutation for G6PD deficiency. Five hundred and forty-four peripheral blood samples were screened for G6PD de...

TPI deficiency glycolytic enzymopathy is a progressive neurodegenerative condition that remains poorly understood. The disease is caused exclusively by specific missense mutations affecting the triose phosphate isomerase protein (TPI) and clinically features hemolytic anemia, adult-onset neurological impairment, degeneration, and reduced longevity. TPI has a well-characterized role in glycolysi...

objective hereditary spastic paraplegia (hsp) is a degenerative disease of genetic origin affecting the corticospinal tracts in the spinal cord. there are three forms of inheritance: autosomal dominant hsp, autosomal rececive hsp and x-linked hsp. this disease is characterized by progressive spasticity of leg muscles with varying degrees of stiffness and weakness of other muscle groups. in this...

By J. ALEKSANDROWICZ, J. URBANCZYK, ALEKSANDRA Osrnowsi AND J. SIERK0 O UR PREVIOUS REPORTS have shown that in the urine of patients suffering from various letikemias the ribonuclease ( RN-ase ) activity varies considerably and depends on the type and period of treatment.1 It has been stated that in the urine of patients suffering from chronic granulocytic letikemia the RN-ase activity is parti...

background: intrauterine growth retardation (iugr) contributes significantly to fetal morbidity and mortality, but its etiology is unknown in most cases. objective: the aim of this study was to examine the association between inherited thrombophilia and iugr. materials and methods: a case-control study was performed in a tertiary referral center (afzalipour hospital) over 2-years period (2010-2...

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy affecting 400 million people, globally. G6PD deficiency is an X-linked genetic condition, which is more likely to affect males than females. Heterozygous females go undetected in a commonly used method. The aim of the study was to identify & rationalize different biochemical methods for detectio...

approximately 5-10% of all thyroid cancers are medullary thyroid carcinomas (mtc). mtc is mainly sporadic in nature, but 20-30% of cases are hereditary. genetic testing for hereditary mtc is very important for the patient and his family, but the patients must be receiving appropriate genetic counseling. about 98% of patients with hereditary mtc have germline mutations in exons 10, 11, 13, 14, 1...