KIF21A gene c.2860C>T mutation in CFEOM1A: the first report from Iran

Congenital Fibrosis of the Extra Ocular Muscles1 [CFEOM1] is an autosomal dominant condition, caused by mutation in the KIF21A and TUBB3. It is characterized by congenital non-progressive restrictive ophthalmoplegia and ptosis. Mutational analysis of the known genes in such rare diseases by Sanger sequencing not only prevents wasting the time and expenses but also speeds diagnosis process, genetic counseling, and the possibility of prenatal diagnosis. Here, for the first time, association of pathogenic variant c.2860C>T in KIF21A gene in an Iranian family with positive history of CFEOM1A was reported

Etiology, diagnosis and management of oromandibular dystonia: an update for stomatologists

Oromandibular dystonia [OMD] is a rare focal neurological disorder that affects mouth, face, and jaws. This comprehensive literature review aimed to summarize the current evidence for etiology, diagnosis, and management of OMD and assess the possibility of dental origin of the disease and dental treatment plans for these patients. Different online databases namely PubMed, Google scholar, and Scopus were searched. The keywords "oromandibular dystonia", "orofaciomandibular dysto-nia", "orofacial-buccal dystonia", "lingual dystonia", "jaw dystonia", "cranial dystonia", and "adult-onset facial dystonia" were searched in the title and abstract of publications from 1970 to 2016. The inclusion criterion was the dental etiology and/or dental treatment. Out of 1260 articles, only 37 articles met the inclusion criteria. OMD can be caused or exacerbated through different dental treatments within which anyone is likely to be involved due to various reasons. Some novel methods employed to relieve this syndrome have led to certain cure or improvement of symptoms in several cases. OMD patients may refer to dentists with involuntary jaw movements and intraoral presentations. Thus, the dentists should be aware of the symptoms and signs and refer the suspicious cases. Dentists should also be familiar with special considerations when managing OMD patients

effectiveness of emotionally focused couples therapy on sexual satisfaction and marital adjustment of infertile couples with marital conflicts

The purpose of this investigation is to determine the efficacy of emotionally focused couples therapy [EFT-C] on enhancement of marital adjustment in infertile couples. This was a semi-experimental study with a pre- and post-test design. We selected 30 infertile couples [60 subjects] by purposive sampling. Couples were randomly assigned to two groups, sample and control. Each group consisted of 15 couples who had marital maladjustment and low sexual satisfaction. Couples answered the marital adjustment and sexual satisfaction questionnaires at baseline after which the sample group received 10 sessions of EFT-C. Results of pre-test and post-test showed that EFT-C significantly impacted marital adjustment and sexual satisfaction. EFT-C had a significant effect on enhancement of satisfaction, cohesion and affectional expression. This approach impacted physical and emotional sexual satisfaction of infertile couples

[Anti-Mullerian hormone as a predictor of IVF treatment]

Anti-Mullerian Hormone [AMH] is secreted from granulosa cells of growing follicles and is a useful marker of ovarian reserve. Fertility in women is determined by the quality and quantity of follicle pool and ovarian follicular reserve positively correlates with AMH. In this study we aimed to determine if AMH can predict ovarian response in IVF treatments. In this retrospective observational study undertaken in Mehr Institute during 2010 to 2011, we studied the medical records of 101 patients and recorded the concentrations of AMH, day two or three FSH, LH, basal estradiol [E2], E2 on day of HCG administration and the number of metaphase II oocytes. Having undergone ovarian hyperstimulation, the women were divided into three groups: poor responders [retrieved oocytes /= 16]. Overall, 20% of patients were defined as poor responders, 71% as average responders and 10% as high responders. There were significant differences in the concentration of AMH, E2 on day of HCG administration, FSH, the number of metaphase II oocytes and age between the three groups. MII oocyte count correlated positively with AMH [r=0.487], basal E2 [r=0.275] and LH [r=0.07] but it did negatively with FSH [r=-0.26] and age [r=-0.04]. The areas under curve for AMH, FSH, LH, E2 and age were 0.799, 0.32, 0.429, 0.558 and 0.304, respectively. We determined the 0.85 ng/ml AMH concentration as the cut-off point with 71% specificity and 79% sensitivity for the prediction of poor responders. anti-mullerian hormone is an appropriate predicator of ovarian response following induction of ovulation