ABSTRACT
Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene. This disorder shows nearly complete penetrance and high phenotypic variability. We used the whole-exome sequencing technique to identify mutations in 32 NF1 cases from 22 Iranian families. A total of 31 variants, including 30 point mutations and one large deletion, were detected. In eight cases, variants were inherited, while they were sporadic in the remaining. Seven novel variants, including c.5576 T > G, c.6658_6659insC, c.2322dupT, c.92_93insAA, c.4360C > T, c.3814C > T, and c.4565_4566delinsC, were identified. The current study is the largest in terms of the sample size of Iranian NF1 cases with identified mutations. The results can broaden the spectrum of NF1 mutations and facilitate the process of genetic counseling in the affected families.
Subject(s)
Exome Sequencing , Genes, Neurofibromatosis 1 , Neurofibromatosis 1 , Neurofibromin 1 , Humans , Iran , Neurofibromatosis 1/genetics , Neurofibromin 1/genetics , Female , Male , Child , Pedigree , Adult , Point Mutation , Mutation , Adolescent , Child, Preschool , Young Adult , DNA Mutational Analysis , Sequence DeletionABSTRACT
OBJECTIVE: Tension-type headache is the most frequent type of headache. Considering the effectiveness of Valeriana officinalis (Valerian) in treatment of some types of headache, the effect of valerian root was studied in patients with tension-type headache. MATERIALS AND METHODS: The current study is a double-blind randomized clinical trial that was conducted in Shams Hospital of Mashhad University of Medical Sciences, Mashhad, Iran, from January to June 2018. We included 88 participants with tension-type headache and randomly assigned them to intervention and control group by block randomization in a 1:1 ratio. The intervention group received Sedamin® capsule (530 mg of valerian root extraction) while the placebo group received 500 mg of breadcrumbs both given as two capsules daily for a month -after dinner. The headache impact on activity of daily livings performance, headache disability, and headache severity were measured using questionnaires in baseline and one month after intervention in both groups. RESULTS: The average age (±SD) of the participants was 34.9 (±8.7) years old. After one month, the impact of headache on daily livings performance, significantly reduced in intervention group (mean=51.2) versus the placebo (mean=57.0), (p<0.001). There was a significant reduction in disability in intervention group (mean=22.9) compared to the placebo (mean=27.4) (p<0.001) and the severity score showed significant reductions in intervention group (mean=3.5) versus the placebo group (mean=5.1) (p<0.001). CONCLUSION: The present trial showed that valerian capsule could reduce the headache impact on daily livings performance, disability and severity of tension-type headache.
ABSTRACT
Objective: Psychosomatic attitudes may be rooted and grounded in the particular culture of the scientific community in each country. We conducted a qualitative research to understand the exclusive psychosomatic attitudes and psychosomatic medicine status of Iranian Psychiatrists. Method : This research was conducted using a qualitative content analysis based on Graneheim and Lundmanand method. All psychiatrists of Avicenna hospital, which is a teaching hospital of Mashhad University of Medical Sciences, were the target population of this study. Among them, 9 psychiatrists were selected by a non-random purposeful sampling method, and semi-structured interviews were used to collect data. Results: Results indicated that most psychiatrists do not have a proper understanding of the term "psychosomatic medicine", but they acknowledged the importance of an integrative approach in medicine. Biopsychosocial model, as a unified and integrated concept, can encompass all emerged categories and refers to the overall pattern in psychiatrists' attitude. Conclusion: Despite acknowledging the importance of a comprehensive approach to medicine and profound theoretical knowledge of psychiatrists, the practical application of biological, psychological, and social dimensions has not been considered equally. Thus, the scientific practical stand of this comprehensive approach requires more serious consideration by the medical community.
