Validity and Reliability of the World Health Organization Disability Assessment Schedule 2.0 36-Item Persian Version for Persons with Multiple Sclerosis / 가정의학회지

Background@#No previous studies have assessed the psychometric properties of the 36-item version of the World Health Organization Disability Assessment Schedule 2.0 (WHODAS 2.0) in the Persian language of Iran. This study was designed and conducted to evaluate the validity and reliability of the Persian version using a sample of persons with multiple sclerosis in Ahvaz, Iran. @*Methods@#The methodological study was conducted in two stages: First, the 36 items of the original WHODAS 2.0 were translated to create a Persian version, after which the translation validity and psychometric properties were tested. The factor structure of the instrument was also tested using exploratory and confirmatory factor analyses. @*Results@#The intraclass correlation coefficients were very good to excellent, varying between 0.82 and 0.99 for the six domains, and all domains had Cronbach’s α reliability values of above 0.70. For construct validity, results showed negative and strong correlation between the total score of WHODAS 2.0 and the Multiple Sclerosis Quality of Life-54. Exploratory factor analysis divided the Persian version of WHODAS 2.0 into seven factors for multiple sclerosis patients. @*Conclusion@#The results of this study indicate that the Persian version of WHODAS 2.0 is a valid and reliable instrument to study the disabilities of people with multiple sclerosis.

[ occurrence and contribution of germline BRCA1/2 sequence alterations in Iranian patients with breast cancer]

Breast cancer is the most common form of hereditary cancer worldwide and is an important cause of morbidity and mortality. Approximately 5-10% of breast and ovarian cancers are due to the highly penetrating germline mutations in cancer predisposing genes. Two genes, BRCA1 and BRCA2, account for at least half of these cases. The demand for BRCA1 and BRCA2 mutation screening is rapidly increasing as their identification will affect the medical management of people at increased risk for the disease. Therefore, the aim of this study was to investigate BRCA1/2 mutations in 100 high risk Iranian families. One hundred families who met the minimal risk factors for breast/ovarian cancer were screened among the families referred to Kawsar Human Genetics Research Center for the diseases in 2009-2011. The entire coding sequences and each intron/exon boundaries of BRCA1/2 genes were screened for by direct sequencing and MLPA in both patients and the controls. In the present study, we could detect the following novel mutations: p.Gly1140Ser, p.Ile26Val, p.Leu1418X, p.Glu23Gln, p.Leu3X, p.Asn1403His, p.Asn1403Asp, p.Lys581X, p.Pro938Arg, p.Thr77Arg, p.Leu6Val, p.Arg7Cys, p.Leu15Ile, p.Ser177Thr, IVS7+83[-TT], IVS8-70[-CATT], IVS2+9[G>C], IVS1-20[G>A], IVS1-8[A>G], p.Met1Ile, IVS2+24[A>G], IVS5-8 [A>G], IVS2[35-39]TTcctatGAT, IVS13+9 G>C in BRCA1 and p.Glu1391Gly, p. Val1852Ile, IVS6-70[T>G], 1994-1995 [InsA] in BRCA2. Ten mutations seemed to be pathogenic and the disease-causing mutations were seen in 16% of the families. In addition, from the total number of substitutions and reassortments [42], 80% related to BRCA1 and 20% to mutations in BRCA2 genes

[Evaluation of relationship between jaw and facial pains with Ischemic heart disease]

Heart disease is the great health problem in different countries .the most important symptom of heart disease with atherosclerosis in chest pain .pain diffuse to the right or left arm, neck and lower jaw. Patients that have central atherosclerosis heart disease with angina in rare cases have a current pain to lower jaw or tooth. The aim this study to determine the frequency of correlation between craniofacial pain and ischemic heart disease. In this descriptive - cross sectional study 210 specimens with ischemic heart disease [pectoris angina and myocardial infarction] that their disease accepted by cardiologist have been selected from Isfahan Chamran and Alzahra hospital in 2009-2010. clinical examination and radiographic evaluation to detect the synchronism of myofacial pain with heart pain were done and the obtained data were analyzed with chi square test. 58/6% of specimens were male and 41/1% of them were female. The age average of specimens were 56/74. 24 of specimens explained that during the MI or angina attack they had jaws pain, after the evaluation the mouth cavity and craniofacial zone with radiographic analyzed and clinical examination no craniofacial or dental problem were detected. From 24 patient with jaws pain 17 patients were male and 7 patients were female and their age average were 54/45. Any of the patients explained the jaws pain as the sole symptom of ischemic heart disease but 24 patients have jaw pain with other symptoms in other parth of the body. so dentist in patient with jaws pain and with no symptom of craniofacial pain to be questions about ischemic heart disease and their symptoms and when dentist distrust to patient then refer him to cardiologist

Rubinstein-Taybi Syndrome; a case report

Rubinstein-Taybi Syndrome is a rare genetic disorder with characteristic features including downward slanting palpebral fissures, broad thumbs and halluces, and mental retardation. Systemic features may involve cardiac, auditory, ophthalmic, endocrine, nervous, renal and respiratory systems. This syndromeis sporadic in nature and has been linked to microdeletion at 16p 13.3 encoding CREB-binding protein gene [CREBBP]. We report a 15-years-old girl, a known case of chronic renal failure, with downward slanting palpebral fissures towardthe ears, hypertelorism, short stature, beaked nose, micrognathia, strabismus, dental anomalies, large toes, broad thumbs, and mental retardation

case report of a 2.5-year-old girl with angelman syndrome [AS]

Angelman Syndrome [AS] is a genetically determined syndrome that has a unique behavioral phenotype. This syndrome is described as jerky ataxia and an unusual happy facial expression with pathological laughter. Severe mental retardation is a unique feature of the syndrome, together with microbrachycephaly and abnormal electroencephalographic findings with or without clinical seizures. The patients cannot speak or at most, they have a vocabulary consisting only of a few words. The genetic abnormality of AS has been located on chromosome 15q11-q13. Patients with As mostly have deletions on the maternally derived allele [75-80%] while some of them show paternal uniparental disomy [approximetly sign 2%] or a rare imprinting mutation developmental disorder caused by deletion of the maternally-inherited chromosome 15q11-13. A 2.5-year-old girl is presented. Clinical suspicion of AS was raised at the age of 27 months when she presented with mental retardation and epilepsy, absence of speech, inability to gait and paroxysmal episodes of laughter. Moreover, she had facial dysmorphic features such as microbrachycephaly, mid-facial hypoplasia, macrostomia and a prominent mandible. Chromosomal analysis revealed 46 xx with the deletion of 15q chromosome [15q11q13-snrpn/ic] Our patient met the classical phenotype and genotype of AS

Serum zinc levels in patients with alopecia areata: a case-control study

The etiology of alopecia areata is not clear, but a possible autoimmune cause has been suggested. Serum zinc levels in alopecia areata has been studied, but the reported results were discordant. The aim of this study was to measure the serum zinc levels of the patients with alopecia areata and to compare it with those of the control group. In this case-control study, 46 alopecia areata patients admitted to the skin clinic of Imam Khomeini Hospital, Jundishapour University of Medical Sciences in Ahwaz and 33 sex and age matched individuals were studied. The serum zinc levels of both groups were measured using atomic absorption spectrometry and the results were compared. The mean +/- SD serum zinc level was 873 +/- 154.9 micg/l and in alopecia areata patients 831.8 +/- 155.8 micg/l in control group[P>0.05]. No difference was observed between the serum zinc levels of patients with alopecia areata and controls. More studies for evaluation of a possible relationship between serum zinc levels and alopecia areata is recommended