Tag: pubmed

Int J Biochem Mol Biol. 2021 Feb 15;12(1):35-48. eCollection 2021.

ABSTRACT

High Myopia (HM) is a common complex-trait eye disorder. There is essential evidence that genetic factors play a significant role in the development of nonsyndromic high myopia. Identification of susceptibility genes of high myopia will shed light on the pathophysiological mechanism underlying their genesis. This was a case control study examining the prospect of association of DLGAP1, EMILIN2 & MYOM1 genes on MYP2 locus in purely ethnic (Kashmiri) population representing a homogeneous cohort. Genomic DNA was extracted using phenol chloroform and salting out method. Extracted DNA was genotyped for polymorphic variations in MYOM1, EMILIN2 and DLGAP1 genes involving Sanger di-deoxy method. Allele frequencies were tested for Hardy-Weinberg disequilibrium in 224 cases and compared with 220 emmetropic controls. In DLGAP1, documented single nucleotide polymorphism (SNP); Pro517Pro was observed. A previously reported Asn451Asn SNP was observed in EMILIN2. MYOM1 showed five polymorphic variations; two in coding region (Gly333Gly & Gly341Ala) and three intronic (c.1022+23, G>A; c.3418+44 G>T & c.3418+65; C>G). All of the elucidated SNPs were having statistical significant role in increasing or decreasing the risk of disease. Although not statistically significant, a novel Glu507Lys SNP was observed in DLGAP1 (P>0.05). In silico predictions showed MYOM1 Gly341Ala to be benign & tolerated substitution while as DLGAP1 Glu507Lys to be possibly damaging substitution. The studied SNPs followed Over-Dominant, Recessive and Co-Dominant mode of inheritance with specific haplotypes associated with the disease. Our study reveals the involvement of MYP2 locus candidate gene polymorphism in the pathogenesis of HM.

PMID:33824778 | PMC:PMC8012819

Int J Burns Trauma. 2021 Feb 15;11(1):34-40. eCollection 2021.

ABSTRACT

INTRODUCTION: Ankle sprain is one of the most common musculoskeletal injuries that occur most commonly in the active and working population. Ottawa and Burns Laws are tools for physicians to determine the need for a radiograph of an ankle injury. The purpose of this study was to evaluate the accuracy of the Ottawa and Bernese criteria in patients with torsion of the foot and the economical savings resulting from the application of these two criteria.

METHODS: This prospective study was designed to evaluate the two rules burns of Bernese and Ottawa and their economic savings were designed in two phases. They were referred to Poursina Medical Center, Rasht, Iran from September 2019 to the achieved sample size. Data were analyzed by SPSS software version 24 (Statistical Package for Social Science (SPSS) 21, Chicago, IL, USA).

RESULTS: A total of 800 patients were included in this study to determine the accuracy of bronze and Ottawa criteria in ankle torsion and the economic cost of using them. Of the 800 patients studied, 430 (53.7%) were male and 370 (46.3%) were female, with a mean age of 35.77±16.42 years. The diagnostic accuracy of the Ottawa criteria is 90% and the diagnostic accuracy of the Bernese criteria is 90.75%. The sensitivity of the Ottawa evaluation method was 97.6% and the specificity was 88%. The sensitivity of Bernese evaluation method was 91% and specificity was 90.7%.

CONCLUSION: Because of the higher sensitivity of the Ottawa criterion than the Bernese criteria, it is preferred to determine the probability of fracture for emergency unit personnel. Using these two methods can reduce the time, energy and cost of treatment for the patient during the treatment period.

PMID:33824783 | PMC:PMC8012874

S Afr J Psychiatr. 2021 Mar 3;27:1587. doi: 10.4102/sajpsychiatry.v27i0.1587. eCollection 2021.

ABSTRACT

BACKGROUND: Schizophrenia is a debilitating mental health condition affecting the lives of many South Africans. The origins of the heterogeneity in the presentation of the illness remain uncertain.

AIM: This cross-sectional study performed a retrospective data analysis to determine the usefulness of digit ratio as an endophenotype in a South African schizophrenia population.

SETTING: A large genetic study in a South African schizophrenia population recruited patients from services in the Western and Eastern Cape.

METHODS: Complete clinical histories were captured for participants, including sets of images of the face and extremities. Software was utilised to measure the lengths of participants’ digits from said images and digit ratios (2D:4D) were calculated. Descriptive analyses were performed on the ratios and statistical differences in digit ratio means were calculated between groups characterised by sex, age of onset and the presence vs absence of positive symptoms. Linear modelling was utilised to assess for correlates between 2D:4D and positive and negative symptom severity using scores obtained from the Positive and Negative Syndrome Scale (PANSS) and Scale for the Assessment of Negative Symptoms (SANS).

RESULTS: 2D:4D in male participants did not significantly differ from female participants as in healthy populations. 2D:4D did not significantly correlate with the severity of positive or negative symptoms and 2D:4D means between groups did not significantly relate to age of onset.

CONCLUSION: 2D:4D appears to be a possible endophenotype in schizophrenia in this population. 2D:4D, however, may not be as readily identifiable as certain minor physical anomalies and neurological soft signs significantly associated with schizophrenia in this population.

PMID:33824756 | PMC:PMC8008037 | DOI:10.4102/sajpsychiatry.v27i0.1587

J Ophthalmol. 2020 Nov 18;2020:5217645. doi: 10.1155/2020/5217645. eCollection 2020.

ABSTRACT

AIM: To investigate the changes in the retinal nerve fiber layer (RNFL) following pars plana vitrectomy (PPV) with surgically induced posterior vitreous detachment (PVD) and idiopathic epiretinal membrane (ERM) and internal limiting membrane (ILM) peeling.

METHODS: Patients with unilateral ERM with vitreomacular traction were included in this prospective, randomized, and controlled clinical trial. The control group (Group 1) was formed with the nonoperated fellow eyes of the patients, and the study group (Group 2) was formed with the eyes that underwent PPV including idiopathic ERM and ILM peeling. In the preoperative and postoperative periods (1^st, 2^nd, 3^rd, 6^th, and 12^th months), complete ophthalmological examination of the eyes was performed and RNFL measurements were examined in 4 different quadrants (superior, temporal, inferior, and nasal) with the help of spectral domain optical coherence tomography (OCT).

RESULTS: There was no statistically significant change in Group 1 during the follow-up period in all quadrants (p > 0.05). The mean RNFL thickness in Group 2 was statistically significantly higher than in Group 1 in superior, inferior, and temporal quadrants (p < 0.01), preoperatively. The mean RNFL in Group 2 was higher in the 1^st, 2^nd, 3^rd, and 6^th months and lower in the 12^th month in superior, inferior, and temporal quadrants (p < 0.01) when compared to the preoperative period. The mean RNFL thickness in the nasal quadrant in Group 2 was higher in the 1^st, 2^nd, and 3^rd (p < 0.01) months, same in the 6^th month (p > 0.05), and lower in the 12^th (p < 0.01) month when compared to the preoperative period.

CONCLUSION: Idiopathic ERM may cause an increase in RNFL thickness in superior, inferior, and temporal quadrants with possible tractional effect. PPV with PVD induction and ERM and ILM peeling may cause these RNFL changes.

PMID:33824761 | PMC:PMC8006755 | DOI:10.1155/2020/5217645

Thromb Haemost. 2021 Apr 6. doi: 10.1055/a-1475-2263. Online ahead of print.

ABSTRACT

BACKGROUND: The 2019 European Society of Cardiology (ESC) guidelines recommend evaluation for right ventricular dysfunction in all normotensive patients with acute pulmonary embolism (PE). We compared the predictive performance of the 2019 and 2014 ESC risk stratification algorithms and the Pulmonary Embolism Severity Index (PESI).

METHODS: We performed a post-hoc analysis of normotensive patients aged ≥65 years with acute PE from a prospective cohort. The primary outcome was overall mortality; secondary outcomes were PE-related mortality and adverse outcomes (PE-related death, cardiopulmonary resuscitation, intubation, catecholamine use, recurrent venous thromboembolism) at 30 days. We assessed outcomes in intermediate-high, intermediate-low, and low risk groups according to the 2019 and 2014 ESC algorithms and the PESI. Discriminative power was compared using the area under the receiver operating curve (AUC).

RESULTS: Among 419 patients, 14 (3.3%) died (7 from PE) and 16 (3.8%) had adverse outcomes within 30 days. The 2019 ESC algorithm classified more patients as intermediate-high risk (45%) than the 2014 ESC algorithm (24%) or PESI (37%), and only 19% as low risk (32% with 2014 ESC or PESI). Discriminatory power for overall mortality was lower with the 2019 ESC algorithm (AUC 63.6%), compared to the 2014 ESC algorithm (AUC 71.5%) or PESI (AUC 75.2%), although the difference did not reach statistical significance (p=0.063). Discrimination for PE-related mortality and adverse outcomes was similar.

CONCLUSIONS: While categorizing more patients in higher-risk groups, the 2019 ESC algorithm for PE did not improve prediction of short-term outcomes compared to the 2014 ESC algorithm or the PESI.

PMID:33823559 | DOI:10.1055/a-1475-2263

Gerontology. 2021 Apr 6:1-11. doi: 10.1159/000514449. Online ahead of print.

ABSTRACT

BACKGROUND: The evidence supporting the use of antiresorptive and anabolic agents for fracture prevention in elderly patients is still inconclusive. Whether it is too late to alter the course of the disease in this age-group has remained uncertain.

OBJECTIVES: The objective of this study was to determine the efficacy and safety of antiresorptive and anabolic agents in elderly patients.

METHODS: PubMed, Web of Science, MEDLINE, and the Cochrane Central Register of Controlled Trials were searched for randomized controlled trials (RCTs) and post hoc analyses of RCTs reporting efficacy outcomes or adverse events of antiresorptive and anabolic agents in elderly patients. Statistical heterogeneity was assessed with the Cochran Q χ2 test and I2 statistic. All results were expressed as relative risk (RR) with 95% confidence intervals (CIs).

RESULTS: The meta-analysis included 1 RCT and 11 post hoc analyses of data from 10 double-blind placebo-controlled RCTs. Antiresorptive therapy significantly reduced the pooled incidence of vertebral fractures (RR = 0.43; 95% CI = 0.35-0.53; and p < 0.001). It was also associated with lower risk of nonvertebral and hip fractures (RR = 0.84; 95% CI = 0.74-0.96; and p = 0.009 and RR = 0.75; 95% CI = 0.58-0.97; and p = 0.028, respectively). For any adverse events, no difference was observed between antiresorptive agents and placebo groups (RR = 1.01; 95% CI = 1.00-1.02; and p = 0.23).

CONCLUSIONS: Both antiresorptive and anabolic agents represented potentially important osteoporosis treatments, showing significant effects on reducing vertebral, nonvertebral, or hip fracture risk, and were well-tolerated by elderly patients. Even in the elderly, maybe it is not too late to alter the course of the disease.

PMID:33823511 | DOI:10.1159/000514449

Fetal Diagn Ther. 2021 Apr 6:1-11. doi: 10.1159/000514504. Online ahead of print.

ABSTRACT

INTRODUCTION: This paper aimed to assess the knowledge of healthcare professionals (obstetric and gynecology residents, specialists, and midwives) in the field of perinatal medicine regarding fetal growth diagnosis and management.

METHODS: A questionnaire was created consisting of a set of questions regarding demographic data, methods of growth assessment, and management. It was a handout survey. The results were analyzed with the use of descriptive statistics and χ2 analysis using the program Statistica.

RESULTS: 190 medical professionals have participated in the questionnaire. 86.3% of respondents agreed that pregnancy dating should be modified based on first-trimester ultrasound. 90.9% agreed that III trimester ultrasound has a ±15% margin of error. When asked which growth charts are best fit for assessing growth in a studied population, 10.7% marked standard, 37.4% reference, 26.2% customized, and 26.2% did not know the difference between the three choices. 60.3% stated that they use a growth chart to assess growth and qualify fetuses for monitoring. 70.2% used the 10th centile as a cutoff, 20.1% 5th centile, and 9.7% 3rd centile. Only 40.9% would diagnose fetal growth restriction based on fetal weight only. 28.7% using the 10th centile cutoff, 16.1% 5th centile, and 54.0% 3rd centile. Only a quarter of the respondents were able to name the growth chart or tool that they use for assessment. The most common responses were Yudkin, Hadlock, and online calculators of Fetal Medicina Barcelona and the Fetal Medicine Foundation.

DISCUSSION: A lot of confusion is observed primarily in the aspect of cutoff values for identification, subsequent monitoring, and management of fetal growth restriction. There is a need for extensive training and education in this field and uniform national recommendations.

PMID:33823513 | DOI:10.1159/000514504

Eur J Prev Cardiol. 2020 Nov 5:zwaa049. doi: 10.1093/eurjpc/zwaa049. Online ahead of print.

ABSTRACT

AIMS: Heart failure (HF) is associated with obesity, but the relationship between weight change and HF is inconsistent. We examined the relationship between weight change and the incidence of HF in the Korean population.

DESIGN: Retrospective cohort study design.

METHODS AND RESULTS: A total of 11 210 394 subjects (6 198 542 men and 5 011 852 women) >20 years of age were enrolled in this study. Weight change over 4 years divided into seven categories from weight loss ≥15% to weight gain ≥15%. The hazard ratios (HRs) and 95% confidence intervals for the incidence of HF were analysed. The HR of HF showed a slightly reverse J-shaped curve by increasing weight change in total and >15% weight loss shows the highest HR (HR 1.647) followed by -15 to -10% weight loss (HR = 1.444). When using normal body mass index with stable weight group as a reference, HR of HF decreased as weight increased in underweight subjects and weight gain ≥15% in obesity Stage II showed the highest HR (HR = 2.97). Sustained weight for 4 years in the underweight and obesity Stages I and II increased the incidence of HF (HR = 1.402, 1.092, and 1.566, respectively).

CONCLUSION: Both weight loss and weight gain increased HR for HF. Sustained weight in the obesity or underweight categories increased the incidence of HF.

PMID:33823535 | DOI:10.1093/eurjpc/zwaa049

Int J Pediatr Otorhinolaryngol. 2021 Jan 27;144:110606. doi: 10.1016/j.ijporl.2020.110606. Online ahead of print.

ABSTRACT

INTRODUCTION: Cochlear implantation is a safe surgery for restoration of hearing in profoundly deaf children. Following cochlear implantation, children undergo rehabilitation (or ‘habilitation’ for those without previous hearing). The device is programmed after the surgery, so that the user can hear sounds through it and through rehabilitation training, the heard sounds are made to understand.

OBJECTIVE: Our study was aimed at analysing the role of satellite habilitation centres following cochlear implantation by analysing the outcomes following habilitation and comparing it with the outcomes of the main centre and correlating it with the percentage of attendance of classes. Our study also aims to compare the attendance of implant patients from outside the geographical area of the main centre before and after starting the satellite centre.

MATERIALS AND METHODS: 1004 profoundly deaf children (6 years and below) who had undergone cochlear implantation and completed 12months of habilitation in our institution from July 2013 to December 2019 were retrospectively analysed. The outcomes of all the centres were assessed by comparing the baseline CAP with CAP scores at 12 months and baseline SIR with SIR scores at 12 months. The outcomes of the main centre and satellite centres were also compared. The outcomes were correlated with percentage of attendance of classes.

OBSERVATION: The overall attendance in all the centres was between 75 and 80%. Both main and satellite centres showed statistically significant good outcomes and this correlates with percentage of attendance.

CONCLUSION: Satellite centres for habilitation across the state has greatly helped to improve the attendance of these patients and outcomes. Reduced drop-out rates and improved speech language outcomes can be achieved by starting satellite centres for habilitation post cochlear implantation in developing countries like India.

PMID:33823468 | DOI:10.1016/j.ijporl.2020.110606

J Surg Res. 2021 Apr 3;264:138-148. doi: 10.1016/j.jss.2021.02.020. Online ahead of print.

ABSTRACT

BACKGROUND: Signet ring cell breast carcinoma (SRCBC) is a rare variant of invasive lobular carcinoma and there are no large series characterizing its long-term prognosis.

MATERIALS AND METHODS: The NCDB was queried from 2004-2016 to identify SRCBC patients. Patients were excluded if they had non-invasive tumors, multiple malignancies, or incomplete surgical data. Univariate analysis was performed utilizing chi-squared and Fischer’s Exact tests. Kaplan-Meier and Cox proportional hazard models were used for survival analysis.

RESULTS: 324 patients met inclusion criteria. Patients were mostly White (75.3%), ≥50 years of age (88.2%), female (98.5%), and had a low Charlson-Deyo score (82.7%). 34.5% had Stage IV disease and 78.1% had ER+ tumors. In patients with non-Stage IV disease, 91.5% received surgery: 49.5% had lumpectomy and 50.5% underwent mastectomy. Radiation therapy was used in 40.7% (71.4% with lumpectomy and 35.8% with mastectomy) and 50% received chemotherapy. Significant differences in unadjusted overall survival were seen at 5 and 10 years based on stage (P < 0.001). On multivariate analysis, ER+ patients showed an improved survival (HR 0.5, P < 0.01) but there was no difference in survival if ER+ patients received endocrine therapy (ET) (HR 0.9, P = 0.57). Non-metastatic patients who underwent surgery had improved overall survival compared to those that did not (HR 0.5, P = 0.02), but there was no survival difference based upon type of breast operation (P = 0.8).

CONCLUSION: SRCBC frequently presents at an advanced stage. While ER+ patients appear to have improved survival, there was no clear survival benefit to receiving ET in ER+ patients.

PMID:33823490 | DOI:10.1016/j.jss.2021.02.020