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61.
Santos RL Wajid M Khan MN McArthur N Pham TL Bhatti A Lee K Irshad S Mir A Yan K Chahrour MH Ansar M Ahmad W Leal SM 《Human mutation》2005,26(4):396
Though many hearing impairment genes have been identified, only a few of these genes have been screened in population studies. For this study, 168 Pakistani families with autosomal recessive hearing impairment not due to mutations in the GJB2 (Cx26) gene underwent a genome scan. Two-point and multipoint parametric linkage analyses were carried out. Twelve families had two-point or multipoint LOD scores of 1.4 or greater within the transmembrane cochlear expressed gene 1 (TMC1) region and were subjected to further screening with direct DNA sequencing. Five novel putatively functional non-synonymous sequence variants, c.830A>G (p.Y277C), c.1114G>A (p.V372M), c.1334G>A (p.R445H), c.2004T>G (p.S668R), and c.2035G>A (p.E679K), were found to segregate within seven families, but were not observed in 234 Pakistani control chromosomes. The variants c.830A>G (p.Y277C), c.1114G>A (p.V372M), and c.1334G>A (p.R445H) occurred at highly conserved regions and were predicted to lie within hydrophobic transmembrane domains, while non-synonymous variants c.2004T>G (p.S668R) and c.2035G>A (p.E679K) occurred in extracellular regions that were not highly conserved. There is evidence that the c.2004T>G (p.S668R) variant may have occurred at a phosphorylation site. One family has the known splice site mutation c.536 -8T>A. The prevalence of non-syndromic hearing impairment due to TMC1 in this Pakistani population is 4.4% (95%CI: 1.9, 8.6%). The TMC1 protein might have an important function in K(+) channels of inner hair cells, which would be consistent with the hypothetical structure of protein domains in which sequence variants were identified. 相似文献
62.
Wong Jasin Ezeife Nnaemezie Kudla Angelika Crown Deborah Trierweiler Robert Capraro Pamela Tomazin Stephanie Su Han Pham Tri Heinemann Allen W. 《Journal of occupational rehabilitation》2022,32(3):464-472
Journal of Occupational Rehabilitation - Purpose The COVID-19 pandemic has disproportionately affected the lives of people with disabilities (PWD). How the pandemic affects the employment of PWD... 相似文献
63.
William A. Monaco John E. Crews Anh Thy H. Nguyen Areeb Arif 《Journal of the American Medical Directors Association》2021,22(6):1156-1161
ObjectivesTo examine data from Delaware nursing homes to determine prevalence of age-related eye diseases (AREDs), vision impairment, and blindness and to compare the findings with the results of 11 US investigations of vision and eye health in nursing homes.DesignThis is a cross-sectional, retrospective study of nursing home patients.Setting and ParticipantsTwenty nursing homes in Delaware participated in the study, yielding comprehensive eye examination records for 2019 study participants.MethodsSummary statistics and regression analyses.ResultsThe overall prevalence of vision impairment or blindness was 63.8% and was above 60% for each age, sex, and race category. Prevalence of vision impairment or blindness was 68.4% among patients with cataracts, 69.4% among patients with macular degeneration, 70.5% among patients with glaucoma, and 68.4% among patients with diabetic retinopathy. Prevalence of blindness was 14.1%. Among patients with AREDs, prevalence of blindness ranged from 15.0% for patients with cataracts to 22.6% for patients with diabetic retinopathy. When compared with other investigations, we found wide variation in vision and eye factors reported and wide variation in the prevalence of those factors. Only 4 studies diagnosed both AREDs and visual function. Seven studies reported AREDs, and 7 reported vision impairment and/or blindness. Vision impairment or blindness ranged from 29% to 67%; cataract ranged from 32% to 83%; macular degeneration ranged from 4.6% to 70.7%. Glaucoma ranged from 5.3% to 41.4%; diabetic retinopathy ranged from 1.7% to 3.1%.Conclusions and ImplicationsComprehensive eye examinations showed that vision impairment and blindness affected 63.8% of nursing home residents. Compared with other studies, there was a wide range of vision factors reported and wide variation in the prevalence of vision impairment or blindness and AREDs. This investigation suggests the importance of eye care in nursing homes and the importance of reporting standard vision and eye health factors to inform policy and practice. 相似文献
64.
65.
Lasers in Medical Science - The use of zirconia for implants and abutments has become more prevalent in implant dentistry as an alternative to the commonly used titanium implants, and peri-implant... 相似文献
66.
Bryce M. Bludevich Paul D. Danielson Christopher W. Snyder Anh Thy H. Nguyen Nicole M. Chandler 《Journal of pediatric surgery》2021,56(6):1107-1113
BackgroundAppendicitis is a common pediatric surgical condition, comprising a large burden of healthcare costs. We aimed to determine if prolonged operative times were associated with increased 30-day complication rates when adjusting for pre-operative risk factors.MethodsPatients <18 years old, diagnosed intraoperatively with acute uncomplicated appendicitis and undergoing laparoscopic appendectomy were identified from the NSQIP-P 2012–2018 databases. The primary outcome, “infectious post-operative complications”, is a composite of sepsis, deep incisional surgical site infections, wound disruptions, superficial, and organ space infections within 30-days of the operation. Secondary outcomes included return to the operating room and unplanned readmissions within 30 days. Logistic regression models were used to assess associations between operative time and each outcome. A Receiver Operating Characteristic (ROC) curve was generated from the predicted probabilities of the multivariate model for infectious post-operative complications to examine operative times.ResultsBetween 2012 and 2018, 27,763 pediatric patients with acute uncomplicated appendicitis underwent a laparoscopic appendectomy. Over half the population was male (61%) with a median operative time of 39 min (IQR 29–52 min). Infectious post-operative complication rate was 2.8% overall and was highest (8%) among patients with operative time ≥ 90 min (Fig. 1). Unplanned readmission occurred in 2.9% of patients, with 0.7% returning to the operating room. Each 30-min increase in operating time was associated with a 24% increase in odds of an infectious post-operative complication (OR=1.24, 95% CI=1.17–1.31) in adjusted models. Operative time thresholds predicted with ROC analysis were most meaningful in younger patients with higher ASA class and pre-operative SIRS/Sepsis/Septic shock. Longer operative times were also associated with higher odds of unplanned readmission (OR=1.11, 95% CI=1.05–1.18) and return to the operating room (OR=1.13, 95% CI=1.02–1.24) in adjusted models.ConclusionThere is a risk-adjusted association between prolonged operative time and the occurrence of infectious post-operative complications. Infectious postoperative complications increase healthcare spending and are currently an area of focus in healthcare value models. Future studies should focus on addressing laparoscopic appendectomy operative times longer than 60 min, with steps such as continuation of antibiotics, shifting roles between attending and resident surgeons, and simulation training.Level of EvidenceLevel III, retrospective comparative study 相似文献
67.
68.
Hernia - The optimal approach for inguinal hernia repair in the obese remains elusive. Minimally invasive techniques show equivocal results compared to the open method. None of the current analyses... 相似文献
69.
Nguyen Minh Hai Nguyen Dang Dung Dinh Cong Pho Vu Tung Son Vu Ngoc Hoan Phan Tan Dan Bui Dang The Anh La Huong Giang Pham Ngoc Hung 《Vaccine》2021,39(7):1140-1147
BackgroundROTAVAC® is derived from human 116E rotavirus (RV) neonatal strain. In this study, we evaluated the immunogenicity, safety and reactogenicity of ROTAVAC® in Vietnam.MethodWe conducted a phase IV clinical trial in healthy infants aged 6–8 weeks using the complete regimen of ROTAVAC® with three doses. Serum anti-RV IgA was measured by enzyme-linked immunosorbent assay to assess the geometric mean concentration in infants who received the complete regimen of the vaccine.ResultsA total of 360 participants were enrolled in this clinical trial. The mean age ± standard deviation at enrollment was 6.9 ± 0.6 weeks. The anti-RV IgA titer was 4.01 ± 3.74 mg/ml pre-vaccination and substantially increased to 29.27 ± 80.64 mg/ml post-vaccination. The value of logIgA significantly increased (p = 0.003) from 0.28 ± 0.79 to 1.03 ± 0.54. The proportion of participants with equal to and greater than 3-fold and 4-fold shifts in pre- to post-vaccination antibody titer (IgA) were 55.4% and 48.3%, respectively. No adverse events or serious adverse events were recorded immediately within 30 min after the administration of each dose. The most common adverse events within 14 days after each visit were fever, unusual crying and irritability. Other adverse events occurred at a low rate, and no case of intussusception was noted.ConclusionsThe complete regimen of ROTAVAC® demonstrated an immunological response with clinically acceptable safety profile. Post-completion of this study, ROTAVAC® is now a WHO-prequalified vaccine and available in Vietnam. 相似文献
70.
Vu Thuy Khanh Le-Trilling Jana-Fabienne Ebel Franziska Baier Kerstin Wohlgemuth Kai Robin Pfeifer Aart Mookhoek Philippe Krebs Madita Determann Benjamin Katschinski Alexandra Adamczyk Erik Lange Robert Klopfleisch Christian M. Lange Viktoriya Sokolova Mirko Trilling Astrid M. Westendorf 《European journal of immunology》2023,53(2):2249940
Primary and recurrent cytomegalovirus (CMV) infections frequently cause CMV colitis in immunocompromised as well as inflammatory bowel disease (IBD) patients. Additionally, colitis occasionally occurs upon primary CMV infection in patients who are apparently immunocompetent. In both cases, the underlying pathophysiologic mechanisms are largely elusive - in part due to the lack of adequate access to specimens. We employed the mouse cytomegalovirus (MCMV) model to assess the association between CMV and colitis. During acute primary MCMV infection of immunocompetent mice, the gut microbial composition was affected as manifested by an altered ratio of the Firmicutes to Bacteroidetes phyla. Interestingly, these microbial changes coincided with high-titer MCMV replication in the colon, crypt hyperplasia, increased colonic pro-inflammatory cytokine levels, and a transient increase in the expression of the antimicrobial protein Regenerating islet-derived protein 3 gamma (Reg3γ). Further analyses revealed that murine and human intestinal epithelial cell lines, as well as primary intestinal crypt cells and organoids represent direct targets of CMV infection causing increased cell death. Accordingly, in vivo MCMV infection disrupted the intestinal epithelial barrier and increased apoptosis of intestinal epithelial cells. In summary, our data show that CMV transiently induces colitis in immunocompetent hosts by altering the intestinal homeostasis. 相似文献