Bojsenfreeman1603

Purpose The aim of this study was to determine the rate of deafness gene mutations in the Foshan area of South China. Method We enrolled the infants delivered in Foshan Maternity and Children's Healthcare Hospital. Deafness gene mutation was detected by HibriMax method. Our study tested 47,538 newborns within 3 days after birth, including 13 sites in four genes GJB2 (c.35 del G, c.176 del 16, c.235 del C, c.299 del AT, c.155 del TCTG), GJB3 (c.583 C>T), SLC26A4 (c.2168 A>G, c.919-2 A>G, c.1299 C>T), and mtDNA 12S rRNA (m.1555 A>G, m.1494 C>T, m.12201 T>C, m.7445 A>G). The birth condition of infants was collected, including sex, low or high birth weight, twins, and premature delivery. Results In a total of 47,538 newborns, 1,415 were positively identified with deafness gene mutations. The total rate of the deafness gene mutation was 2.976%. The carrier rates of GJB2 (c.35 del G, c.176 del 16, c.235 del C, c.299 del AT, c.155 del TCTG), GJB3 (c.583 C>T), SLC26A4 (c.2168 A>G, c.919-2 A>G, c.1299 C>T), and mtDNA 12S rRNA (m.1555 A>G, m.1494 C>T, m.12201 T>C, m.7445 A>G) mutations were 0.000%, 0.048%, 1.422%, 0.185%, 0.000%, 0.076%, 0.116%, 0.755%, 0.160%, 0.187%, 0.021%, 0.000%, and 0.006%, respectively. Conclusions Our study showed that the c.235 del C GJB2 mutation was the leading deafness-related mutation in the Foshan area of South China. Deafness gene mutations screening in newborns detected by bloodspot-based genetic screening tests can help the diagnosis of newborn congenital hearing loss.The Patient-Centered Medical Home (PCMH) has become a widely implemented model to transform the delivery of care, but little evidence exists regarding the model's impact on providers, nurses, and staff. This study examined the impact of the PCMH model on (1) provider and staff satisfaction, (2) work-life balance, (3) teamwork, (4) professional experience, (5) patient care factors, and (6) quality outcomes. The authors confidentially surveyed physicians, advanced practice providers (APPs), nurses, care managers, and office staff in 2011 prior to implementation of the PCMH model and in 2016 after implementation at 34 primary care offices providing care to 171,045 patients. A total of 349 pre-PCMH implementation surveys (84% response rate) and 549 follow-up surveys (92% response rate) were received. Implementation of the PCMH model did not result in changes in provider, nurse, and staff responses to composite measures of satisfaction (P = 0.45), work-life balance (P = 0.68), teamwork (P = 0.26), patient care (P = 0.62), or professional experience (P = 0.14). Physicians and APPs experienced a negative, but mostly nonsignificant, change in all composite measures with implementation of the PCMH model. selleck inhibitor Quality markers improved for diabetes control HbA1c less then 8 (62.6% to 67.9%; P  less then  0.001), hypertension control (60.9% to 75.0%; P  less then  0.001), breast cancer screening (53.9% to 77.4%; P  less then  0.001), and colorectal cancer screening (43.9% to 70.3%; P  less then  0.001). Across a large primary care network, implementation of the PCMH model failed to improve overall satisfaction, work-life balance, teamwork, patient care, or professional experience. The model, combined with financial incentives, did result in improvements across multiple patient quality domains.This research explores how the level of consumers' need for cognition (NFC) is associated with celebrity endorser credibility and examines its effects on advertising-related attitudes. A 3 (endorser types actor/actress, athlete, TV personality/talent) × 2 (endorser's gender) factorial experiment with 435 Japanese consumers was conducted. Concerning Japanese OTC drug advertising, lower NFC individuals perceived celebrity endorsers as more credible in comparison to higher NFC individuals. The main effects of NFC and endorser type on endorser credibility existed; however, no interaction between the two variables was found. The endorser type had an influence on attitudes toward ads and the advertised brand.In this study, face-to-face interviews were conducted with older people who applied to the family health center (N = 152) in the traditional rural district of Turkey. Although the prevalence rate was 23%, the mean value of "Characteristics of the elder that make him or her vulnerable to abuse" subscale (X̄ = .37) was highest among other subscales. The mean values for "Characteristics of potentially abusive situations" (X̄ = .06) and "Overt violation of personal rights and direct abuse" (X̄ = .05) were quite low. The majority of the elder abuse prevalence was composed of participants who were vulnerable to elder abuse. The rural area makes older individuals vulnerable to abuse. Also, risk factors associated with elder abuse in rural areas were interaction with family (p = .000), interaction with neighbors/friends (p = .001), chronic diseases (p = .002), psychiatric diseases (p = .007), gender and marital status (p = .008), and additional income (p = .028), respectively. The only predictor of elder abuse in rural areas was family interaction. There was a significant negative relationship between rural elder abuse and family interaction (T= -4.239, p less then  .001).PURPOSE This study evaluated the continuous use of trastuzumab beyond progression (TBP) in human epidermal growth factor receptor 2 (HER2)-positive advanced gastric or gastroesophageal junction (G/GEJ) cancer. PATIENTS AND METHODS Patients with HER2-positive advanced G/GEJ cancer refractory to first-line chemotherapy with trastuzumab in combination with fluoropyrimidine and platinum were eligible. Patients were randomly assigned to the paclitaxel (80 mg/m2, days 1, 8, and 15, every 4 weeks) or paclitaxel with trastuzumab (PT; initially 8 mg/kg followed by 6 mg/kg, every 3 weeks) arms. The primary endpoint was progression-free survival (PFS). Secondary endpoints included overall survival (OS), response rate, and safety. Biomarkers such as HER2 expression status in tumor tissue after first-line treatment, HER2 amplification evaluated in serum cell-free DNA, and soluble HER2 levels were analyzed. RESULTS Overall, 91 patients were allocated to the paclitaxel (n = 46) and PT (n = 45) arms. The median PFS in the paclitaxel and PT arms was 3.2 and 3.7 months, respectively (hazard ratio [HR], 0.91; 80% CI, 0.67 to 1.22; P = .33), and the median OS in both arms was 10 months (HR, 1.2; 95% CI, 0.75 to 2.0; P = .20). The overall response rates in the paclitaxel and PT arms were 32% and 33%, respectively (P = 1.00), and safety was comparable between the 2 arms. On exploratory analyses, HER2 positivity of tumor tissues was lost after first-line chemotherapy in 11 (69%) of 16 patients whose tumor tissues were available, and circulating HER2 DNA amplification was detected in 41 (60%) of 68 patients. However, no biomarkers associated with efficacy of TBP were found. CONCLUSION The TBP strategy failed to improve PFS in patients with HER2-positive advanced G/GEJ cancer, and no beneficial biomarkers were found.Background Gastroesophageal reflux disease (GERD) is one of the most important obesity-related comorbidity, with prevalence >50% in obese population. Roux-en-Y gastric bypass (RYGB) is considered the gold standard for metabolic surgery in obese patients with GERD, but in a subgroup of patients this pathological GERD may be not really controlled after this technique. Aims of this article are to discuss surgical and endoscopic options to manage refractory GERD after RYGB. Materials and Methods We realized a literature review using the PubMed database and searching articles published before December 2019 about GERD after RYGB. Results We found six studies, four case reports, and two retrospective studies about surgical and endoscopic options to treat this subgroup of patients. Discussion Pharmacological therapy and life style optimization are the first line of treatment. For resistant GERD, new surgical and endoscopic strategies are proposed in the past years to manage this subgroup of patients related to anatomic limitation of RYGB. Conclusion More studies are needed to compare surgical and endoscopic solutions. The choice of treatment depends on local resources and skills, and if necessary refer the patient to a specialist center.Benthic macroinvertebrates are used to evaluate water quality in 8 sampling stations in Lepenci river basin in Kosovo. Sampling was performed in spring, summer and fall 2017. Following biotic indices are used EPT taxa richness, Biological Monitoring Working Party (BMWP), Average Score per Taxon (ASPT), Stroud Water Research Center index (SWRC), Family biotic index (FBI), as well as diversity indices Shannon-Weaver index (H), Simpsons index (D), Hill's index (Hi), Mergalef index (DMe) and Menhicnik's index (DMa). Our results show the presence of 34 macroinvertebrate taxa in Lepenci river which belong to Insecta, Crustaceans and Annelidae. The water quality along the river show variation from high and good class upstream, to moderate, poor and bad, downstream. The Pearson's bivariate correlation used to analyze the relationship between physicochemical parameters with biotic and diversity indices showed a significant correlation (p  less then  0.01) of EC, TSS, O2, COD, BOD, NH4, and PO43- with biotic indices EPT, BMWP, ASPT, SWRC, FBI. We can conclude that the values of biotic and diversity indices have shown differences in water quality between polluted and unpolluted sites and reflect the ecological status of the river, therefore we can consider them as valuable tools for water quality assessment in rivers in Kosovo.PURPOSE Surgery is the primary therapy for localized chondrosarcoma; for locally advanced and/or metastatic disease, no known effective systemic therapy exists. Mutations in the isocitrate dehydrogenase 1/2 (IDH1/2) enzymes occur in up to 65% of chondrosarcomas, resulting in accumulation of the oncometabolite D-2-hydroxyglutarate (2-HG). Ivosidenib (AG-120) is a selective inhibitor of mutant IDH1 approved in the United States for specific cases of acute myeloid leukemia. We report outcomes of patients with advanced chondrosarcoma in an ongoing study exploring ivosidenib treatment. PATIENTS AND METHODS This phase I multicenter open-label dose-escalation and expansion study of ivosidenib monotherapy enrolled patients with mutant IDH1 advanced solid tumors, including chondrosarcoma. Ivosidenib was administered orally (100 mg twice daily to 1,200 mg once daily) in continuous 28-day cycles. Responses were assessed every other cycle using RECIST (version 1.1). RESULTS Twenty-one patients (escalation, n = 12; expansion, n = 9) with advanced chondrosarcoma received ivosidenib (women, n = 8; median age, 55 years; range, 30-88 years; 11 had received prior systemic therapy). Treatment-emergent adverse events (AEs) were mostly grade 1 or 2. Twelve patients experienced grade ≥ 3 AEs; only one event was judged treatment related (hypophosphatemia, n = 1). Plasma 2-HG levels decreased substantially in all patients (range, 14%-94.2%), to levels seen in healthy individuals. Median progression-free survival (PFS) was 5.6 months (95% CI, 1.9 to 7.4 months); the PFS rate at 6 months was 39.5%. Eleven (52%) of 21 patients experienced stable disease. CONCLUSION In patients with chondrosarcoma, ivosidenib showed minimal toxicity, substantial 2-HG reduction, and durable disease control. Future studies of ivosidenib monotherapy or rational combination approaches should be considered in patients with advanced mutant IDH1 chondrosarcoma.