Category: Nevin Manimala

BMC Med. 2022 Jun 22;20(1):214. doi: 10.1186/s12916-022-02404-2.

ABSTRACT

BACKGROUND: The current genome-wide association study (GWAS) of Lewy body dementia (LBD) suffers from low power due to a limited sample size. In addition, the genetic determinants underlying LBD and the shared genetic etiology with Alzheimer’s disease (AD) and Parkinson’s disease (PD) remain poorly understood.

METHODS: Using the largest GWAS summary statistics of LBD to date (2591 cases and 4027 controls), late-onset AD (86,531 cases and 676,386 controls), and PD (33,674 cases and 449,056 controls), we comprehensively investigated the genetic basis of LBD and shared genetic etiology among LBD, AD, and PD. We first conducted genetic correlation analysis using linkage disequilibrium score regression (LDSC), followed by multi-trait analysis of GWAS (MTAG) and association analysis based on SubSETs (ASSET) to identify the trait-specific SNPs. We then performed SNP-level functional annotation to identify significant genomic risk loci paired with Bayesian fine-mapping and colocalization analysis to identify potential causal variants. Parallel gene-level analysis including GCTA-fastBAT and transcriptome-wide association analysis (TWAS) was implemented to explore novel LBD-associated genes, followed by pathway enrichment analysis to understand underlying biological mechanisms.

RESULTS: Pairwise LDSC analysis found positive genome-wide genetic correlations between LBD and AD (rg = 0.6603, se = 0.2001; P = 0.0010), between LBD and PD (rg = 0.6352, se = 0.1880; P = 0.0007), and between AD and PD (rg = 0.2136, se = 0.0860; P = 0.0130). We identified 13 significant loci for LBD, including 5 previously reported loci (1q22, 2q14.3, 4p16.3, 4q22.1, and 19q13.32) and 8 novel biologically plausible genetic associations (5q12.1, 5q33.3, 6p21.1, 8p23.1, 8p21.1, 16p11.2, 17p12, and 17q21.31), among which APOC1 (19q13.32), SNCA (4q22.1), TMEM175 (4p16.3), CLU (8p21.1), MAPT (17q21.31), and FBXL19 (16p11.2) were also validated by gene-level analysis. Pathway enrichment analysis of 40 common genes identified by GCTA-fastBAT and TWAS implicated significant role of neurofibrillary tangle assembly (GO:1902988, adjusted P = 1.55 × 10^-2).

CONCLUSIONS: Our findings provide novel insights into the genetic determinants of LBD and the shared genetic etiology and biological mechanisms of LBD, AD, and PD, which could benefit the understanding of the co-pathology as well as the potential treatment of these diseases simultaneously.

PMID:35729600 | DOI:10.1186/s12916-022-02404-2

Int J Retina Vitreous. 2022 Jun 21;8(1):44. doi: 10.1186/s40942-022-00394-0.

ABSTRACT

BACKGROUND: MMP-9 plays a prominent role in inflammation and MMP-14 take part in angiogenesis. The objective of this study is to compare MMP-9 and MMP-14 levels between diabetic and non-diabetic patients.

METHODS: The patients who scheduled for pars plana vitrectomy were included in our study. Patients are divided into 2 groups: the diabetic group and non-diabetic group. Age, gender, intraocular pressure(IOP), visual acuity (VA) were reported. Color fundus photography, fundus fluorescein angiography, optic coherence tomography (OCT) were performed before and after the operation. MMP-9 and MMP-14 levels in vitreous samples were analyzed with a reader device by ELISA method. Mann-Whitney U test and logistic regressions were used in statistical analysis, p < 0.05 accepted as statistically significant.

RESULTS: 70 eyes of 70 patients who received pars plana vitrectomy were enrolled in the study and divided into 2 groups: 34 patients in the diabetic group, 36 patients in the non-diabetic group. The average age of diabetic patients was 60.14 ± 10.20, and non-diabetic patients was 64.22 ± 11.16, respectively. The average MMP-9 (0.67 ± 0.66 ng/ml) and MMP-14 (0.16 ± 0.45 ng/ml) values in the diabetic group were significantly higher than the average MMP-9 (0.21 ± 0.05 ng/ml) and MMP-14 (and 0.07 ± 0.02 ng/ml) values in the non-diabetic group (P < 0.01). Also, it was observed that MMP-9 and MMP-14 levels increases as the diabetic disease duration increases. The risk of diabetes incidence increased with high levels of MMP-9 and MMP-14.

CONCLUSION: Due to the higher levels of MMP-9 and MMP-14 in the pathogenesis of diabetic retinopathy, these proteins may probably be among the therapeutic targets in the prevention and treatment of retinopathy.

PMID:35729613 | DOI:10.1186/s40942-022-00394-0

BMC Oral Health. 2022 Jun 21;22(1):247. doi: 10.1186/s12903-022-02278-z.

ABSTRACT

INTRODUCTION: Older adults are a highly vulnerable group in their general health condition, including oral health that can be influenced by different factors, among them, changes in oral tissues inherent to the physiological processes of aging and by systemic condition. In El Salvador, it is a group that has received little attention at the public health level.

OBJECTIVE: To determine the profile of the oral health status and treatment needs of the elderly population in El Salvador.

MATERIALS AND METHODS: Secondary cross-sectional analysis of data from the last oral health survey in 471 Salvadorans aged 60 years and older. The variables under study were: sociodemographics, brushing frequency, oral hygiene according to simplified oral hygiene index (OHI-S), caries experience according to decayed, missing, and filled teeth index (DMFT) modified with international caries detection and assessment system (ICDAS) criteria, periodontal status through the community periodontal index of treatment needs (CPITN), edentulism and treatment needs. Statistical analysis was conducted using chi-square test, ANOVA, z-test and linear regression (p < 0.05).

RESULTS: The older adults presented poor oral hygiene, low brushing frequency, high tooth loss with an average of 16 missing teeth while one third presented total edentulism. Most of the older adults were categorized as having “poor or very Poor” oral hygiene. Almost all respondents presented some degree of periodontal disease and required restorative intervention.

CONCLUSION: The oral health status of elderly Salvadoran is poor. Furthermore, the development of public policies and specific oral health strategies aimed at this population is urgent.

PMID:35729598 | DOI:10.1186/s12903-022-02278-z

Ital J Pediatr. 2022 Jun 21;48(1):106. doi: 10.1186/s13052-022-01285-8.

ABSTRACT

BACKGROUND: The assessment of body composition is central in diagnosis and treatment of paediatric obesity, but a criterion method is not feasible in clinical practice. Even the use of bioelectrical impedance analysis (BIA) is limited in children. Body mass index (BMI) Z-score is frequently used as a proxy index of body composition, but it does not discriminate between fat mass and fat-free mass. We aimed to assess the extent to which fat mass and percentage of body fat estimated by a height-weight equation agreed with a BIA equation in youths with obesity from South Italy. Furthermore, we investigated the correlation between BMI Z-score and fat mass or percentage of body mass estimated by these two models.

METHODS: One-hundred-seventy-four youths with obesity (52.3% males, mean age 10.8 ± 1.9) were enrolled in this cross-sectional study. Fat mass and percentage of body fat were calculated according to a height-weight based prediction model and to a BIA prediction model.

RESULTS: According to Bland-Altman statistics, mean differences were relatively small for both fat mass (+ 0.65 kg) and percentage of body fat (+ 1.27%) with an overestimation at lower mean values; the majority of values fell within the limits of agreement. BMI Z-score was significantly associated with both fat mass and percentage of body fat, regardless of the method, but the strength of correlation was higher when the height-weight equation was considered (r = 0.82; p < 0.001).

CONCLUSIONS: This formula may serve as surrogate for body fat estimation when instrumental tools are not available. Dealing with changes of body fat instead of BMI Z-score may help children and parents to focus on diet for health.

PMID:35729585 | DOI:10.1186/s13052-022-01285-8

World J Surg Oncol. 2022 Jun 22;20(1):212. doi: 10.1186/s12957-022-02679-y.

ABSTRACT

BACKGROUND: The link between glutathione S-transferase P1 (GSTP1) c.313A > G polymorphism and chemotherapy-related adverse events remains controversial. The goal of this study was to assess how this variant affected the toxicity of anthracycline-/paclitaxel-based chemotherapy in patients with breast cancer.

METHODS: This study retrospectively investigated pharmacogenetic associations of GSTP1 c.313A > G with chemotherapy-related adverse events in 142 breast cancer patients who received anthracycline and/or paclitaxel chemotherapy.

RESULTS: There were 61 (43.0%), 81 (57.0%), 43 (30.3%), and 99 (69.7%) patients in the T0-T2, T3-T4, N0-N1, and N2-N3 stages, respectively. There were 108 (76.1%) patients in clinical stages I-III and 34 (23.9%) patients in clinical stage IV. The numbers of patients with luminal A, luminal B, HER2 + , and triple-negative breast cancer (TNBC) were 10 (7.0%), 77 (54.2%), 33 (23.2%), and 22 (15.5%), respectively. The numbers of patients who carried GSTP1 c.313A > G A/A, A/G, and G/G genotypes were 94 (66.2%), 45 (31.7%), and 3 (2.1%), respectively. There were no statistically significant differences in the proportion of certain toxicities in patients with A/G, G/G, and A/G + G/G genotypes, except for neutropenia, in which the proportion of patients with A/G + G/G (χ² = 6.586, P = 0.035) genotypes was significantly higher than that with the AA genotype. The logistic regression analysis indicated that GSTP1 c.313A > G mutation (A/G + G/G vs. A/A genotype) (adjusted OR 4.273, 95% CI 1.141-16.000, P = 0.031) was an independent variable associated with neutropenia.

CONCLUSIONS: The findings of this study indicate that the GSTP1 c.313A > G mutation is an independent risk factor for neutropenia hematotoxicity in breast cancer patients induced by anthracycline-/paclitaxel-based chemotherapy.

PMID:35729577 | DOI:10.1186/s12957-022-02679-y

BMC Neurol. 2022 Jun 21;22(1):228. doi: 10.1186/s12883-022-02751-w.

ABSTRACT

BACKGROUND AND PURPOSE: As endovascular thrombectomy (EVT) is time-dependent, it is crucial to refer patients promptly. Current referral modes include Mothership (MS), Drip and Ship (DS) and Drive the Doctor (DD). The purpose of this study was to investigate the influences of different referral modes on the clinical outcomes of patients with acute ischemic stroke after EVT. METHODS: A total of 349 patients from 15 hospitals between April 2017 and March 2020 were enrolled. The primary outcomes include poor outcome (modified Rankin Scale score of 3 to 6), symptomatic intracranial hemorrhage transformation (sICH), mortality and cost. Regression analysis was used to assess the association of referral modes with poor outcome, sICH, mortality and cost in acute ischemic stroke patients.

RESULTS: Among the 349 patients, 83 were in DD group (23.78%), 85 in MS group (24.36%) and 181 in DS group (51.86%). There were statistically significant differences in intravenous thrombolysis, onset-to-door time, onset-to-puncture time, puncture-to-recanalization time, door-to-puncture time, door-to-recanalization time, and cost among the DD, MS, and DS groups (59.04% vs 35.29% vs 33.15%, P<0.001; 90 vs 166 vs 170 minutes, P<0.001; 230 vs 270 vs 270 minutes, P<0.001; 82 vs 54 vs 51 minutes, P<0.001; 110 vs 85 vs 96 minutes, P=0.004; 210 vs 146 vs 150 minutes, P<0.001; 64258 vs 80041 vs 70750 Chinese Yuan, P=0.018). In terms of sICH, mortality and poor outcome, there was no significant difference among the DD, MS, and DS groups (22.89% vs 18.82% vs 19.34%, P=0.758; 24.10% vs 24.71% vs 29.83%, P=0.521; 64.47% vs 64.71% vs 68.51%, P=0.827). The results of multiple regression analysis indicated that there was no independent correlation between different referral modes regarding sICH (OR_MS: 0.50, 95%CI: 0.18, 1.38, P=0.1830; OR_DS: 0.47, 95%CI: 0.19, 1.16, P=0.1000), mortality (OR_MS: 0.56, 95%CI: 0.19, 1.67, P=0.2993; OR_DS: 0.65, 95%CI: 0.25, 1.69, P=0.3744) and poor outcome (OR_MS: 0.61, 95%CI: 0.25, 1.47, P=0.2705; OR_DS: 0.53, 95%CI: 0.24, 1.18, P=0.1223). However, there was a correlation between MS group and cost (β=30449.73, 95%CI: 11022.18, 49877.29; P=0.0023). The multiple regression analysis on patients finally admitted in comprehensive stroke center (MS+DS) versus patients finally admitted in primary stroke center (DD) showed that DD mode was independently associated with lower costs (β=-19438.86, 95%CI: -35977.79, -2899.94; P=0.0219).

CONCLUSION: There was no independent correlation between three referral modes and sICH, mortality, poor outcome correspondingly. Different referral modes can be implemented in clinical practice according to the situations encountered. Compared to MS and DS modes, DD mode is more economical.

PMID:35729557 | DOI:10.1186/s12883-022-02751-w

BMC Med Inform Decis Mak. 2022 Jun 21;22(1):165. doi: 10.1186/s12911-022-01900-y.

ABSTRACT

BACKGROUND: Almost eight children per 1000 live births are expected to have a congenital heart defect globally. The seven most critical congenital heart conditions that cause severe compromise on the patient’s quality and duration of life are collectively referred to as the Critical Congenital Heart Diseases (CCHD). CCHD is a critical condition that requires prompt detection and intervention as a life-saving measure. Pulse oximetry is a non-invasive, highly specific, and moderately sensitive method that can be used for screening new-borns for CCHD. The Emirates Health Services (EHS), UAE, adopted a strategy of developing a stringent program for newborn screening of Critical Congenital Heart disease, which would help in the early diagnosis and treatment of CCHD patients. An automated EMR (Wareed) driven solution was introduced to enhance this program as part of the routine workflow for the nurse care providers.

METHODS: Our study is a retrospective observational study that aims to understand: the prevalence of CCHD in our target population and to study the impact of an automated program on screening compliance and its implications for early diagnosis of CCHD.

RESULTS: We found that an EMR-driven automated screening program was highly effective in achieving high compliance (98.9%). It created a (statistically significant) improvement in the disease identification for CCHD in live births at EHS facilities.

CONCLUSION: We conclude that implementing an automated protocol through the EMR can effectively improve new-born screening coverage. It reduces the days to CCHD diagnosis, which would improve health outcomes in neonates.

PMID:35729549 | DOI:10.1186/s12911-022-01900-y

BMC Urol. 2022 Jun 21;22(1):88. doi: 10.1186/s12894-022-01043-2.

ABSTRACT

AIM: The effects of the COVID-19 pandemic on healthcare in Australia have yet to be fully determined. There are well documented decreases in the rates of screening and diagnostic testing for many cancers in 2020, with commensurate stage migration of cancers when they are eventually detected. We aimed to determine whether there was a decrease in the rate of prostate cancer (PC) screening and testing in Australia in 2020.

METHOD: Data was extracted from the Department of Human Services (DHS) website for Medicare Benefits Schedule (MBS) item numbers for tests pertinent to detection of Prostate Cancer. This data is de-identified and publicly available. Data was analysed at both a national, and a state level.

RESULTS: For 2020 nationwide the percentage change for prostate cancer testing was minor with 97% as many PSA tests, 99% as many prostate MRIs, and 105% as many prostate biopsies as the average for the preceding years. The differences were not significant (PSA tests p = 0.059 and prostate biopsies p = 0.109). The predicted values are fairly similar to both the average values for the preceding 5 years and the actual number of tests done in 2020. With exception of PSA tests in Victoria the actual number of tests performed was within the 95% Prediction Interval (performed: 167,426; predicted 171,194-196,699; p = 0.015).

CONCLUSION: The current pandemic has had a widespread reach across Australia, with varying impact across each state and territory. Contrary to the trends across the world, our data suggest that during 2020 in Australia most areas remained unaffected in terms of prostate cancer testing excluding Victoria, which had statistically significant decrease in the number of PSA tests correlating with the extended lockdown that occurred in the state.

PMID:35729543 | DOI:10.1186/s12894-022-01043-2

BMC Neurol. 2022 Jun 21;22(1):229. doi: 10.1186/s12883-022-02732-z.

ABSTRACT

Freezing of gait is a common gait disorder among patients with advanced Parkinson’s disease and is associated with falls. This paper designed the relevant experimental procedures to obtain FoG signals from PD patients. Accelerometers, gyroscopes, and force sensing resistor sensors were placed on the lower body of patients. On this basis, the research on the optimal feature extraction method, sensor configuration, and feature quantity selection in the FoG detection process is carried out. Thirteen typical features consisting of time domain, frequency domain and statistical features were extracted from the sensor signals. Firstly, we used the analysis of variance (ANOVA) to select features through comparing the effectiveness of two feature selection methods. Secondly, we evaluated the detection effects with different combinations of sensors to get the best sensors configuration. Finally, we selected the optimal features to construct FoG recognition model based on random forest. After comprehensive consideration of factors such as detection performance, cost, and actual deployment requirements, the 35 features obtained from the left shank gyro and accelerometer, and 78.39% sensitivity, 91.66% specificity, 88.09% accuracy, 77.58% precision and 77.98% f-score were achieved. This objective FoG recognition method has high recognition accuracy, which will be helpful for early FoG symptoms screening and treatment.

PMID:35729546 | DOI:10.1186/s12883-022-02732-z

BMC Pediatr. 2022 Jun 22;22(1):356. doi: 10.1186/s12887-022-03412-0.

ABSTRACT

BACKGROUND: Neonatal phototherapy (NNPT) has long been used as an effective and relatively safe method of treating neonatal hyperbilirubinemia. Considering the subsequent evidence of long-term impacts of NNPT such as malignancies, this study was conducted to evaluate the relationship between NNPT and childhood cancers.

METHODS: This case-control study assessed 116 children up to 4 years old with every kind of cancer referred to the Oncology department of Afzalipour hospital, Kerman, Iran, from 2011 to 18. Moreover, 116 pediatric patients without cancer hospitalized at the same Center were included after sex and age matching as the control group. The history of phototherapy and its duration were evaluated in these two groups.

RESULTS: We found no association between the NNPT and malignancies in children. However, high intensive phototherapy was higher historically among affected cancerous patients than in non-cancerous cases without any statistically significant difference (25% vs 19%; P = 0.26). Maternal educational level and history of maternal infection during pregnancy, which initially appeared to be two factors associated with malignancy in single variable regression analyses, were not significant based on the adjusted models.

CONCLUSIONS: The results did not show a positive correlation between NNPT and childhood cancers, which may partly be due to the relatively small sample size of the study. However, some other evidence is worrisome enough that NNPT should not be considered risk-free. Additional multi-centric studies should be undertaken to specify that phototherapy is really safe.

PMID:35729528 | DOI:10.1186/s12887-022-03412-0