Cormiersivertsen8492

No marked depletion of mtDNA nor mitochondrial mass was caused by the splicing variant. However, defects that the impaired capacity of OXPHOS, reduced ATP generation, increased ROS and decreased membrane potential were observed in the mutant cells, which promoted a ubiquitin-binding mitophagy instead of apoptosis. Conclusions The novel splicing variant, c.1444-2A>C resulted in OPA1 haploinsufficiency effect on its expression and mitochondrial function without mtDNA depletion. Our findings may provide new insights into the understanding of pathophysiology of DOA.We aimed to explore the clinical effects of the endometrial preparation protocol for frozen-thawed embryo transfer (FET) in women with endometrial polyps. This retrospective study was performed at the Reproductive Medicine Centre of the First Affiliated Hospital of Sun Yat-sen University between January 2015 and May 2018 involving women diagnosed with endometrial polyps by hysteroscopy. The freeze-all strategy was performed in controlled ovarian stimulation cycles followed by FET cycles. Endometrial preparation protocols included (i) gonadotropin-releasing hormone agonist-hormone replacement therapy (GnRHa-HRT); (ii) hormone replacement therapy (HRT); (iii) natural cycle (NC); and (iv) ovulation induction (OI). Recurrence rate of polyps and clinical results were compared among the four groups. If polyp recurrence was found in ultrasound scans during the FET cycles, the embryo transfers were cancelled. The recurrence rate of polyps was lower in the GnRHa-HRT protocol [2.13% (2/94)] than in the other three protocols [6.15% (26/423), 6.7% (28/418), and 4% (1/25) in the HRT, NC, and OI, respectively; p = 0.038], showing statistically significant difference. Pregnancy, early pregnancy loss, and live birth rates among the four protocols were similar (p = 0.922, p = 0.171, and p = 0.072, respectively). The GnRHa-HRT protocol used for FET in women with endometrial polyps could reduce the recurrence rate of the polyps. In addition, we found that it did not decrease pregnancy or live birth rates.

Traboulsi syndrome is a rare autosomal recessive genetic disorder. The present study aimed to identify the pathogenic variants in the

gene responsible for a rare and unique presentation of Traboulsi syndrome associated with cardiac disorder.

DNA was isolated from the blood samples from 3 clinically diagnosed Traboulsi syndrome patients (n=3) after obtaining a prior-informed consent. All three had classical ocular and facial dysmorphic features, and two of them also had associated cardiac problems. Mutation screening was performed for the exons of

gene by Sanger sequencing in these patients and 350 controls. Sequence data analysis was performed using Seqscape and

protein analysis by SIFT, PyMOL, and Dynamut softwares.

A novel homozygous variant(c.1853T>A) in exon 21 was identified by Sanger sequencing in two of the three cases while a known pathogenic variant in exon 25 was identified in the third proband. The novel nonsense variant in exon 21 results in a premature truncation of gene resulting in a protein of 543 amino acids. This variant is not reported in ExAC, dbSNP and 1000 genome databases. Both the patients harboring this novel variant, had a unique presentation of Traboulsi syndrome with cardiac dysfunction.

analysis predicted the mutation to affect the calcium-binding activity of the gene which might explain the associated cardiac dysfunction in these two patients.

The novel pathogenic mutation displayed a perfect genotype-phenotype correlation in two probands of Traboulsi syndrome with cardiac dysfunction.

The novel pathogenic mutation displayed a perfect genotype-phenotype correlation in two probands of Traboulsi syndrome with cardiac dysfunction.Exceptionally high rates of incarceration in the United States have caused a need for a major social justice movement. This paper explains the various collateral damages endured by the incarcerated population. Several research studies related to the unintended consequences of incarceration on outcomes related to couple and family relationships, racial disparities, employment, poverty and public health are examined. The importance of individual, couple, and family therapy and its effectiveness toward improving the lives of those negatively impacted by incarceration is discussed.

The study aimed to assess the prevalence and factors associated with knowledge and use of the emergency contraceptive pill (ECP) among ever-married women in Bangladesh.

The study was based on a secondary dataset of the 2014 Bangladesh Demographic and Health Survey. Complete (weighted) data of 17,592 women aged 15-49 years were analysed.

The prevalence of having knowledge and use of the ECP among ever-married women in Bangladesh was 13.6% and 1.8%, respectively. Administrative region and type of residence (urban or rural), household wealth index, educational level (of both the woman and her spouse), spouse's occupation, number of living children, weight, current use of contraception and a history of pregnancy termination were positively associated with knowledge and use of the ECP.

A large proportion of Bangladeshi women of reproductive age had a lack of knowledge and use of the ECP. Nationwide reproductive health education programmes may improve the situation.

A large proportion of Bangladeshi women of reproductive age had a lack of knowledge and use of the ECP. Nationwide reproductive health education programmes may improve the situation.Dysphonia negatively affects a speaker's intelligibility, especially in noisy environments. Previously, our study showed this effect of dysphonia with the transcription-based intelligibility measurement. While this finding indicates the importance of intelligibility assessment for this population, implementing the transcription-based measurement may be difficult in clinical settings due to its resource-demanding nature. Using the same speakers, this study examined the agreement between transcription- and rating-based intelligibility measurements. WS6 mw Six sentences from the Consensus of Auditory-Perceptual Evaluation of Voice (CAPE-V) were recorded from 18 individuals with dysphonia (6 adult females, 6 adult males, and 6 children). Their dysphonia severity was determined through auditory-perceptual evaluation by two speech-language pathologists. Cafeteria noise was added to these recordings at SNR0 and paired with a sample from a healthy speaker in their age and/or gender group. Forty-five listeners rated intelligibility of the dysphonic samples on a 7-point rating scale.