G protein-coupled receptor-associated sorting proteins: function and relevant disorders.

a.lsfakia shared this article with you from Inoreader G protein-coupled receptor-associated sorting proteins: function and relevant disorders. Via pubmed: familial hearing los... Related Articles G protein-coupled receptor-associated sorting proteins: function and relevant disorders. Yi Chuan. 2020 Aug 20;42(8):713-724 Authors: Zhang M, Liang LH, Lu YJ, Cao X Abstract G protein-coupled receptors (GPCRs), the largest family of membrane protein receptors, can be activated by a variety of ligands and participate in signaling transduction, and they are essential in the physiologic process in vivo. GPCR-associated sorting proteins (GASPs) play an important role in the post-endocytic sorting of GPCRs. They mediate the degradation or recycling pathway, and regulate cell signaling transduction and other biological processes. The functional defects of GASPs have been reported to be implicated in pathogenesis of some neurological diseases, tumors and deafness and so on. In this review, we summarize the GASPs' function, GPCR-GASP interactions, GPCR sorting pathway and GASP-related signaling pathways implicated in the transcriptional regulation. It could help to understand the potential linkage between GASPs' dysfunction and diseases, and provide a new approach and strategy for the treatment of GASP-related diseases. PMID: 32952108 [PubMed - indexed for MEDLINE] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Parenting a child with congenital cytomegalovirus infection: a qualitative study.

a.lsfakia shared this article with you from Inoreader Parenting a child with congenital cytomegalovirus infection: a qualitative study. Via pubmed: familial hearing los... Related Articles Parenting a child with congenital cytomegalovirus infection: a qualitative study. BMJ Paediatr Open. 2020;4(1):e000844 Authors: Vandrevala T, Barber V, Mbire-Chigumba E, Calvert A, Star C, Khalil A, Griffiths P, Book AS, Book GM, Heath P, Jones CE Abstract Background: Congenital cytomegalovirus (CMV) is the most common infectious cause of congenital disability, which can cause lifelong impairments including sensorineural hearing loss and developmental delay. This study aimed to explore the experiences of parenting a child with congenital CMV and the impact this has on families. Methods: Ten parents living with a child with congenital CMV in the UK participated in semistructured interviews and data were analysed using thematic analysis. Results: The findings illustrate that delays in making the diagnosis of congenital CMV are associated with parental distress and lack of knowledge about CMV among medical professionals can exacerbate this distress. Parents expressed frustration about not knowing about CMV infection during their pregnancies and therefore not having the opportunity to take measures to reduce their risk of acquiring CMV while pregnant. The uncertainty about the long-term outcomes of children with congenital CMV adds additional emotional burden for parents. Family and wider societal networks have the potential to facilitate coping and alleviate stress, but the lack of awareness of CMV acts as a barrier to receiving support from family and friends. Conclusions: There is a need to increase awareness of CMV among medical professionals, pregnant women and wider society to improve the diagnostic process and to provide better support for families caring for children with congenital CMV infection. PMID: 33225083 [PubMed] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss.

a.lsfakia shared this article with you from Inoreader Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss. Via pubmed: familial hearing los... Related Articles Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss. Hereditas. 2020 Nov 24;157(1):47 Authors: Yu J, Jiang W, Cao L, Na X, Yang J Abstract Mutations in HARS2 are one of the genetic causes of Perrault syndrome, characterized by sensorineural hearing loss (SNHL) and ovarian dysfunction. Here, we identified two novel putative pathogenic variants of HARS2 in a Chinese family with sensorineural hearing loss including two affected male siblings, c.349G > A (p.Asp117Asn) and c.908 T > C (p.Leu303Pro), through targeted next-generation sequencing methods. The two affected siblings (13 and 11 years old) presented with early-onset, rapidly progressive SNHL. The affected siblings did not have any inner ear malformations or delays in gross motor development. Combined with preexisting clinical reports, Perrault syndrome may be latent in some families with non-syndromic deafness associated with HARS2 mutations. The definitive diagnosis of Perrault syndrome based on clinical features alone is a challenge in sporadic males, and preadolescent females with no signs of POI. Our findings further expanded the existi ng spectrum of HARS2 variants and Perrault syndrome phenotypes, which will assist in molecular diagnosis and genetic counselling of patients with HARS2 mutations. PMID: 33228777 [PubMed - in process] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.

a.lsfakia shared this article with you from Inoreader Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis. Via pubmed: familial hearing los... Related Articles Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis. Proc Natl Acad Sci U S A. 2020 Nov 23;: Authors: Boucher S, Wong Jun Tai F, Delmaghani S, Lelli A, Singh-Estivalet A, Dupont T, Niasme-Grare M, Michel V, Wolff N, Bahloul A, Bouyacoub Y, Bouccara D, Fraysse B, Deguine O, Collet L, Thai-Van H, Ionescu E, Kemeny JL, Giraudet F, Lavieille JP, Devèze A, Roudevitch-Pujol AL, Vincent C, Renard C, Franco-Vidal V, Thibult-Apt C, Darrouzet V, Bizaguet E, Coez A, Aschard H, Michalski N, Lefevre GM, Aubois A, Avan P, Bonnet C, Petit C Abstract Presbycusis, or age-related hearing loss (ARHL), is a major public health issue. About half the phenotypic variance has been attributed to genetic factors. Here, we assessed the contribution to presbycusis of ultrarare pathogenic variants, considered indicative of Mendelian forms. We focused on severe presbycusis without environmental or comorbidity risk factors and studied multiplex family age-related hearing loss (mARHL) and simplex/sporadic age-related hearing loss (sARHL) cases and controls with normal hearing by whole-exome sequencing. Ultrarare variants (allele frequency [AF] < 0.0001) of 35 genes responsible for autosomal dominant early-onset forms of deafness, predicted to be pathogenic, were detected in 25.7% of mARHL and 22.7% of sARHL cases vs. 7.5% of controls (P = 0.001); half were previously unknown (AF < 0.000002). MYO6, MYO7A, PTPRQ, and TECTA variants were present in 8.9% of ARHL cases but less than 1% of controls. Evidence for a causal role of variants in presbycusis was provided by pathogenicity prediction programs, documented haploinsufficiency, three-dimensional structure/function analyses, cell biology experiments, and reported early effects. We also established Tmc1 N321I/+ mice, carrying the TMC1:p.(Asn327Ile) variant detected in an mARHL case, as a mouse model for a monogenic form of presbycusis. Deafness gene variants can thus result in a continuum of auditory phenotypes. Our findings demonstrate that the genetics of presbycusis is shaped by not only well-studied polygenic risk factors of small effect size revealed by common variants but also, ultrarare variants likely resulting in monogenic forms, thereby paving the way for treatment with emerging inner ear gene therapy. PMID: 33229591 [PubMed - as supplied by publisher] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss.

a.lsfakia shared this article with you from Inoreader Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss. Via pubmed: familial hearing los... Related Articles Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss. Mol Biol Rep. 2020 Nov 24;: Authors: Noman M, Bukhari SA, Rehman S, Qasim M, Ali M, Riazuddin S, Ahmed ZM Abstract Hearing loss (HL) is clinically and genetically heterogeneous disorder and is the most frequent occurring sensory deficit in humans. This study was conducted to decipher the genetic cause of HL occurring in two large consanguineous Pakistani families (GCNF-01, GCNF-03). Family history and pure tone audiometry of both families suggested prelingual HL, while the affected individuals of GCNF-01 also had low vision and balance problems, consistent with cardinal features of Usher syndrome type I (USH1). Exome sequencing followed by segregating analysis revealed a novel splice site variant (c.877-1G > A) of USH1C occurring with USH1 phenotype in family GCNF01. While the affected individual of family GCNF-03 were homozygous for the c.716 T > A, p.(Val239Asp) previously reported pathogenic variant of SLC26A4. Both variants have very low frequencies in control database. In silico mutagenesis and 3-dimensional simulation analyses revealed that both variants have dele terious impact on the proteins folding and secondary structures. Our study expands the mutation spectrum of the HL genes and emphasizes the utility of exome sequencing coupled with bioinformatics tools for clinical genetic diagnosis, prognosis, and family counseling. PMID: 33231815 [PubMed - as supplied by publisher] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Endoscopic sleeve gastroplasty with argon plasma coagulation: A novel technique

a.lsfakia shared this article with you from Inoreader Endoscopic sleeve gastroplasty with argon plasma coagulation: A novel technique Via Journal of Digestive Diseases The endoscopic sleeve gastroplasty (ESG) is a minimally invasive procedure in which the gastric lumen is stitched endoscopically. Argon plasma coagulation (APC) is a separate, multipurpose tool that is widely used in gastrointestinal endoscopy. The combination of ESG and APC may act in a synergistic manner to reduce weight without adding significant procedure time. Objective The endoscopic sleeve gastroplasty (ESG) is a minimally invasive procedure in which the anterior and posterior aspects of the greater curvature are stitched endoscopically, producing a sleeve‐like anatomy mimicking that in a sleeve gastrectomy. However, suture dehiscence and enlargement of the stomach within months of the procedure have been observed. Argon plasma coagulation (APC) is widely used in gastrointestinal endoscopy and is able to induce scarring and fibrosis. We coupled ESG with APC to evaluate its potential to improve durability. Methods A 46‐year‐old woman with obesity presented for ESG. Her pre‐procedure weight was 117 kg with a body mass index (BMI) of 41.4 kg/m2. After each plication was complete, APC (60 W, argon flow rate 1.2 L/min) was used to ablate the mucosal surface of the exposed plicated mucosa. APC was applied until the mucosal color was dark brown, indicating adequate and successful mucosal and submucosal ablation. Results The procedure was successful, and the patient recovered without peri‐ or post‐operative complications. The procedure time was 47 minutes. A total of seven sutures were used. At 6‐month follow‐up the patient had lost 17 kg (37.5 lbs), equivalent to 14.5% total weight loss and had a BMI of 35.4 kg/m2. Endoscopic follow‐up at 6 months revealed enhanced fibrosis along the plications, resulting in a superior, sleeve‐like lumen. Conclusions The combination of ESG with APC may act synergistically to reduce weight without adding significant procedure time. Further investigation is needed to determine whether it should be widely recommended. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

ReSound Seeks Hearing Care Professionals to Assist with $1M Hearing Aid Donation

a.lsfakia shared this article with you from Inoreader ReSound Seeks Hearing Care Professionals to Assist with $1M Hearing Aid Donation Via Audiology ​ReSound has launched the Gives Sound community campaign, a nationwide effort to donate up to $1 million worth of ReSound ONE hearing aids to people living with hearing loss who have been negatively affected by the numerous challenges of 2020.   "In a year full of adversity, health concerns and financial pressures, it's more important than ever to support those with hearing loss, especially people who have been directly affected by the pandemic," said Mikkel Knudsen, the president of ReSound US Commercial. "Through this effort, we want to recognize the efforts of hearing care professionals and help them give the gift of sound to people living with hearing loss in their community."   As part of the ReSound Gives Sound campaign, each participating practice can nominate people to receive a set of ReSound ONE hearing aids free of charge. To gain exclusive access to this campaign, interested practices must sign up with their ReSound sales representative between Nov. 23 and Nov. 25, and agree to waive any initial fitting and follow-up fees for recipients.    ReSound will provide practices with a communications kit to promote the effort in their community in order to identify people who could benefit from new hearing technology.    The ReSound Gives Sound community campaign is part of the company's ongoing efforts to offer innovative solutions to make life sound better in a year where hearing is more important than ever, helping people to navigate the new normal and communicate with colleagues, friends and family. ​To learn more, visit the campaign website. Published: 11/24/2020 10:48:00 AM View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Accuracy of different tooth surfaces on 3D printed dental models: orthodontic perspective

a.lsfakia shared this article with you from Inoreader Accuracy of different tooth surfaces on 3D printed dental models: orthodontic perspective Via Latest Results for BMC Oral Health Abstract Background Few studies have been reported regarding the accuracy of 3D-printed models for orthodontic applications. The aim of this study was to assess the accuracy of 3D-printed dental models of different tooth surfaces. Methods Thirty volunteers were recruited from the hospital, and then their dental models were produced by means of oral scanning and a stereolithography-based 3D printer. Each printed model was digitally scanned and compared with the oral-scanned STL file via superimposition analysis. A color map was used to assess the accuracy of different surfaces (occlusal, buccal, lingual) of anterior and posterior teeth. The Tukey test was used to evaluate the differences between the superimposition. Results Statistically significant differences were found in the average deviations of different tooth surfaces (P < 0.05). The mean average absolute deviations of the occlusal surfaces of posterior teeth were greater than those of other surfaces. Percentages of points beyond the upper and lower limits of different tooth surfaces displayed the same results (P < 0.05). Conclusions Occlusal surfaces, especially pits and fissures of posterior teeth on 3D printed maxillary dental models, showed greater distortions than those of other teeth and regions. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

A laboratory study to assess the formation of effluent volatile compounds and disinfection by‐products during chemomechanical preparation of infected root canals and application of activated carbon for their removal

a.lsfakia shared this article with you from Inoreader A laboratory study to assess the formation of effluent volatile compounds and disinfection by‐products during chemomechanical preparation of infected root canals and application of activated carbon for their removal Via International Endodontic Journal ABSTRACT Aim To assess in a laboratory setting using extracted teeth the formation of volatile compounds (VOCs) and disinfection by‐products (DBPs) in effluent aliquots, during chemomechanical preparation of artificially infected root canal specimens, and determine the role of silver‐impregnated activated carbon (Ag‐AC) in their removal. Methodology Single‐rooted human teeth were decoronated to obtain 15mm‐long root specimens and a nutrient‐stressed multispecies biofilm was grown in the root canals. Specimens were randomly assigned into three groups [Group 1; instrumentation with rotary files and irrigation with sterile saline, Groups 2 and 3; instrumentation with rotary files and irrigation with 2.5% NaOCl and 17% EDTA]. A portable medical suction device was used to collect the effluent aliquots during root canal irrigation. In Groups 1 and 2, the reaction products of the collected effluents were analysed by selected ion flow tube mass spectrometry (SIFT‐MS). The effluents from Group 3 were treated with Ag‐AC prior to SIFT‐MS analysis, to assess the removal capacity of Ag‐AC against the reaction products. The synthesis of Ag‐AC was characterised with scanning electron microscopy/energy dispersive X‐ray spectroscopy (SEM/EDS). Two‐way analysis of variance (ANOVA) with post hoc Tukey tests were used for dat a analysis and determination of a significant difference (P<0.05). Results In Group 1, effluent VOCs and DBPs were detectable at very low levels. In Group 2, the collected effluent aliquots released high concentrations of methanol, propanol, ammonia, chloroform and formaldehyde, which were significantly greater compared to Group 1 (P<0.001). SEM/EDS analysis confirmed impregnation of Ag within the AC matrix. The treatment of effluent aliquots with Ag‐AC (Group 3) resulted in a significant reduction in concentrations of acetone, acetic acid, propanol, acetaldehyde, acetonitrile and chloroform, compared to Group 2 (P<0.001). The concentration levels of ethanol, methanol, ammonia and formaldehyde remained unaffected (P>0.05). Conclusions In this laboratory setting using extracted human teeth, the chemomechanical preparation of artificially infected root canals resulted in the formation of toxic volatile compounds and disinfection by‐products as effluent suspensions. Their release during aspiration with dental suction indicates that potential environmental hazards should be investigated. The use of silver‐impregnated activated carbon had potential for the point‐of‐use treatment of post‐irrigation effluent aliquots. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Combined 3-O-acetylbetulin treatment and carbonic anhydrase IX inhibition results in additive effects on human breast cancer cells

o.lakala70 shared this article with you from Inoreader Combined 3-O-acetylbetulin treatment and carbonic anhydrase IX inhibition results in additive effects on human breast cancer cells Via MedWorm Cancer & Oncology Research Publication date: Available online 25 November 2020Source: Chemico-Biological InteractionsAuthor(s): Marina Petrenko, Antje Güttler, Anne Funtan, Jacqueline Keßler, Daniel Emmerich, Reinhard Paschke, Dirk Vordermark, Matthias Bache (Source: Chemico Biological Interactions) View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

MicroRNA-188-5p targeting Forkhead Box L1 promotes colorectal cancer progression via activating Wnt/ β-catenin signaling.

o.lakala70 shared this article with you from Inoreader MicroRNA-188-5p targeting Forkhead Box L1 promotes colorectal cancer progression via activating Wnt/ β-catenin signaling. Via MedWorm Cancer & Oncology Research This study aimed to explore its role in colorectal cancer (CRC). Human CRC tissues paired with normal tissues, and several CRC cell lines were utilized. Real-time quantitative PCR was applied to measure the expression of miR-188. Overexpression and knockdown were used to access the function of miR-188 and to investigate whether FOXL1/Wnt signaling mediates such function. The proliferation, migration and invasion of cancer cells were evaluated by CCK8, wound-healing and transwell assays, respectively. Whether FOXL1 acted as a direct target of miR-188 was verified by dual-luciferase reporter assays. Levels of miR-188 were upregulated in CRC tissues than in paired-normal tissues, as well as in various CRC cell lines. High expression of miR-188 was strongly associated with advanced tumor stage... View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.