Kaasbowman5093
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. 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. Spearman's rank correlation tests were conducted to examine the correlations between rating-based intelligibility measurement and the transcription-based measurement from our previous study, as well as the voice quality ratings and the rating-based intelligibility measurements. There was a strong positive correlation between the transcription- and rating-based measurements at all noise levels. The correlation between rating-based intelligibility measurement and breathiness rating was also strong. Our findings suggest that the rating-based intelligibility measurement could potentially be used as a substitute for the transcription-based analysis. Furthermore, the intelligibility deficit may be particularly problematic to patients who present with breathy dysphonia.The present study examined whether tail and ear postures in fattening pigs (n = 228) housed in different environments could be suitable for assessing their affective state. In doing so, it investigated the appearance of curled-up, hanging, raised, tucked-under or wagging tails, respectively, ears directed forward, backward, mixed, and laterally. The environments included a barren and two enriched habitats that offered straw-bedded pens and soil-based rooting areas for the pigs. The tail and ear postures were analyzed using the scan sampling method. At the end of fattening, the pigs in the barren environment showed significantly fewer curled-up tails than those in the enriched environment. The barren-housed pigs showed also more raised, respectively, wagging tails than the enriched-housed pigs. Particularly at the end of fattening, there were no differences concerning the ears directed forward between the two environments and significantly fewer ears directed laterally were observed in the barren than in the enriched environment. Primarily, the curled-up tails could be suitable for indicating the affective state of the fattening pigs whereas the other tail, respectively, ear postures seemed to be less suitable to represent their affective state.This study aimed to investigate the therapeutic effect of pulsed electromagnetic field (PEMF) on bone wound in rats as a potential therapy for bone fracture-related conditions. Male rats, aged 3 months, were used to construct model of bone wounding. Wound models were randomly selected to receive PEMF therapy at 1 to 10 mT intensity. Models that did not receive PEMF therapy were used as control. The serum concentrations of calcium (Ca), phosphorus (P) and alkaline phosphatase (ALP) were determined. Bone density and biomechanical properties of callus were measured using a tensile tester. Compared with control, rats subjected to PEMF therapy had similar weight gain, but significantly higher levels of serum Ca and ALP (P less then .05) at 5 and 10 mT, while the serum level of P remained unchanged after PEMF therapy. The bone mineral density of callus increased after the therapy, particularly, after 5 and 10 mT therapy (P less then .05). Biomechanical measurements showed that 21 days after the therapy, the maximum load, fracture load, elastic load and bending energy were significantly greater in rats receiving 5 and 10 mT PEMF therapy as compared with control (P less then .05). find more Our experiments demonstrate that PEMF at 5 and 10 mT can significantly accelerate wound healing and enhance the repairing ability of bone tissue.Immune checkpoint inhibitors have demonstrated significant clinical activity across various tumor subtypes; however, their utility in gynecologic malignancies has thus far proven modest. Since the identification of a molecular subclassification system for endometrial cancer (EC), research in immune checkpoint inhibitor therapies has been focusing on certain subgroups predictive for response, particularly microsatellite instability hypermutated/DNA mismatch repair-deficient subtype. Dostarlimab, a PD-1 inhibitor, has demonstrated preliminary evidence of clinical activity and acceptable safety profile in patients with across recurrent EC, particularly microsatellite instability-hypermutated/DNA mismatch repair-deficient EC. This review outlines existing data for the efficacy and safety of dostarlimab in recurrent or advanced-stage EC.Glioblastomas are the primary malignant tumors of brain tissues with poor prognosis and highly invasive phenotypes. Till now Ki-67 LI has emerged as a well-studied proliferation marker that aids in tumor grading, but labeling index alone cannot predict overall survival in gliomas. P21 activated kinase 1 (PAK1) - a serine/threonine kinase has been shown to function as downstream nodule for various oncogenic signaling pathways that promote neoplastic changes. This study is designed to evaluate the expression of PAK1 across various grades and its correlation with Ki-67 LI and overall survival rates among a total number of 140 clinical brain tumors of glioma patients. We also studied the activation status of phospho PAK1 in glioma tissues and established the role of PAK1 in proliferation of glioblatoma cell lines under γ-irradiation.This study provides molecular evidence signifying the role of PAK1 and its activation status in the progression of Gliomas to more aggressive phenotypes.
