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...

Familial hypercholesterolemia (FH, OMIM number #143890), a life-threatening monogenic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL-C), is classified into dominant and recessive types (1). The form FH may result from mutations in the LDLR, APOB, PCSK9 genes (2). However, receptor (LDLR) adaptor protein-1 (LDLRAP1) gene cause an autosomal inheritance pattern c...

BACKGROUND Crohn's disease is a familial disorder, and antiglycan antibodies to the cell wall mannan of Saccharomyces cerevisiae (ASCA) are highly correlated with Crohn's disease. AIMS To determine whether there is a familial pattern for expression of serum levels of anti-mannan Ig, and whether this trait is expressed in clinically unaffected Crohn's disease family members. METHODS 349 pati...

Familial interstitial lung disease (ILD) is defined as presence of ILD in 2 or more family members. Surfactant protein C (SFTPC) gene mutations are rare, but well-known cause of familial ILD. We reported a 20-year-old male, who was referred for lung transplantation. He was symptomatic at age 3 and underwent surgical lung biopsy at age 6, which revealed a nonspecific interstitial pneumonia (NSIP...

OBJECTIVE Downward occupational drift has been extensively investigated in schizophrenia. It is known that certain illness related factors, such as severity, affect drift, but the impact of familial factors has not been investigated. METHODS Occupation drift was studied among patients with schizophrenia/schizoaffective disorder (SZ/SZA)(n=523) and 130 affected sib pairs (ASPs). Drift was anal...

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. materials and methods: in this study, auto-antibodies including anti-ovarian antibody (aoa), a...

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...

BACKGROUND Increasing evidence supports the usefulness of brain magnetic resonance imaging (MRI) for the diagnosis of human prion diseases. From the neuroradiological point of view, fatal familial insomnia is probably the most challenging to diagnose because brain lesions are mostly confined to the thalamus. OBJECTIVE To determine whether multisequence MRI of the brain can show thalamic alter...

The enzymes of biosynthesis are usually bound to membranes and require an undisturbed lipid environment for regulated activity. In familial hypercholesterolemia, this lipid environment is disturbed and there is a low cholesterol ester level in the cellular membranes that results from impaired processing of low density lipoprotein (LDL). Thus, altered activities of various synthesizing enzymes c...