desmoids tumors, characterized by monoclonal proliferation of myofibroblasts, could occur in 5-10% of patients with familial adenomatous polyposis (fap) as an extra-colonic manifestation of the disease. fap can develop when there is a germ-line mutation in the adenomatous polyposis coli gene. although mild or attenuated fap may follow mutations in 5΄ extreme of the gene, it is more likely that ...

background: germ-line mutations of brca1 and brca2 genes are responsible for approximately 25-30% of dominantly inherited familial breast cancers; still a big part of genetic component is unknown. the aim of this study was to investigate genetic causes of familial breast cancer in a pedigree with recessive pattern of inheritance. methods: we applied exome sequencing as a useful approach in hete...

a 6.5 yr old girl was admitted with a category of clinical signs and symptoms including recurrent gross hematuria, ab-dominal pain, and fever. after different examinations including genetic analysis, the disease was diagnosed as familial mediterranean fever (fmf). it is suggested to consider fmf as a rare cause of recurrent gross hematuria, which is re-sponsive to colchicine treatment.

background: brca1 and brca2 genes have been recognized to be responsible for 20-30% of hereditary breast can­cers and approximately 50% of familial breast and ovarian cancers. therefore, the demand for brca1 and brca2 muta­tion screening is rapidly increasing as their identification will affect medical management of people at increased risk. because of high costs involved in analysis of brca1 a...

aplasia cutis conginita (acc) is a condition characterized by congenital absence of skin, usually on the scalp. acc can occur as an isolated condition or in the presence of other congenital anomalies. here we describe a case of a 16 days old baby girl with an isolated acc of the scalp. her elder two siblings have been diagnosed with acc with concomitant cardiac or limb anomalies. the patient wa...

background: it is presumed that gastric cancer has several etiologies. first-degree relatives of patients with gastric cancer are suggested to be at higher risk compared to others. this is the first study aimed at estimating this risk, using meta-analysis of case-control studies. materials and methods: all records prior to february 2008 in pubmed and embase were searched for case-control studie...

objective(s):familial mediterranean fever (fmf), an inherited autosomal recessive disorder, is frequently present among individuals of mediterranean origin. differences in the clinical manifestations of fmf between different ethnic groups have been documented. the aim of the present study was to determine the most common characteristics of fmf and the relationship between clinical findings and ...

in general, both common illnesses and rare diseases can develop in people and their relatives in families. therefore, taking family history is an effective screening tool to detect such diseases and patients should be aware of its importance in families’ health with updating information in regular visiting. for more information on identifying the genetic pattern of diseases, in this article, we...

background: familial mediterranean fever (fmf) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. methods: to evaluate clinical symptoms and common genetic mutations in southwestern iranian patients with fmf, 20 unrelated patients were enrolled in this study based on clinical criteria. a panel of 12 common mefv ...

purpose : to report a new familial presentation of hypoplasia and absence of superior rectus in the form of unilateral monocular elevation deficiency case report : a 7-year-old boy was referred to our center (poostchi eye clinic) with a chief complaint of ocular misalignment in his right eye since birth. one of his siblings was a known case of unilateral monocular elevation deficiency and was o...