Multiple cutaneous and uterine leiomyomata syndrome (MCL) is an autosomal dominant disease characterized by the presence of concurrent benign tumors of smooth muscle origin (leiomyoma) in the skin and uterus of affected females, and in the skin of affected males. MCL can also be associated with type II papillary renal cell cancer (HLRCC). The genetic locus for MCL and HLRCC was recently mapped ...

INTRODUCTION The communication between nurses and patients' families impacts patient well-being as well as the quality and outcome of nursing care, this study aimed to demonstrated the facilitators and barriers which influence the role of communication among Iranian nurses and families member in ICU. METHODS This study is a qualitative study with content analysis. Participants were eight regi...

background: hearing loss (hl) is the most frequent sensory birth defect in humans. autosomal recessive non-syn­dromic hl (arnshl) is the most common type of hereditary hl. it is extremely heterogeneous and over 70 loci (known as dfnb) have been identified. this study was launched to determine the relative contribution of more frequent loci in a cohort of arnshl families. methods: thirty-seven i...

the selection of high yielding and stress tolerance plant genotypes with the highest water use efficiency and productivity is one of the most important tools for field water management in arid and semi-arid regions. this study was conducted to identify drought tolerant flax families with the highest irrigation water productivity (iwp) among a population of 119 f3 families derived from a cross b...

Purpose To evaluate consanguineous pedigrees from Pakistan with a clinical diagnosis of nonsyndromic congenital retinal nonattachment (NCRNA) and identify genes responsible for the disease as currently only one NCRNA gene is known (atonal basic helix-loop-helix transcription factor 7: ATOH7). Methods We implemented a three-step genotyping platform: single nucleotide polymorphism genotyping to...

Breaking bad news is quite often not done in an effective manner in clinical settings due to the medical staff lacking the skills necessary for speaking to patients and their families. Bad news is faced with similar reactions on the part of the news receiver in all cultures and nations. The purpose of this study was to explore the perspectives of Iranian nurses on breaking bad news to patients ...

spastic paraplegia 18 is an autosomal recessive disorder characterized by motor dysfunction, joint contracture and mental retardation. we describe two families as three cases. case 1 is a 35-year-old woman with and spasticity and mild weakness in lower limbs. case 2 and 3 are a sister and brother aged six and two respectively. the older sister suffered from lower limb spasticity, equinovarus an...

OBJECTIVE To describe the etiological characteristics of intellectual disability in one Iranian center. METHODS In a cross-sectional study, 64 cases with mental retardation (MR) were examined in the Intellectual Rehabilitation & Welfare Care Center of Vardavard, Iran between April and September 2008. Cases were diagnosed with MR or showed delay/regression of developmental milestones. We studi...

background: essential hypertension tends to a familial mode. its pattern of inheritance is heterogeneous, but the frequencies of different mode of inheritance vary in different populations. determining of the mode of inheritance in each family is the basic information that is needed for the risk estimation in those family members. determination of pattern of inheritance in families with at leas...

background parapox virus is the causative agent of orf disease which is basically seen in sheep and goats. it can betransferred to the human by direct contact with infected animals or indirect contact to infected meat or contaminated butchery instruments like knife. the skin lesions are usually found in fingers. patients totally, 11 subjects from five families infected with orf disease were sur...