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Prediction of facial nerve outcomes after surgery for vestibular schwannoma using machine learning-based models: a systematic review and meta-analysis
No full textPostoperative facial nerve (FN) dysfunction is associated with a significant impact on the quality of life of patients and can result in psychological stress and disorders such as depression and social isolation. Preoperative prediction of FN outcomes can play a critical role in vestibular schwannomas (VSs) patient care. Several studies have developed machine learning (ML)-based models in predicting FN outcomes following resection of VS. This systematic review and meta-analysis aimed to evaluate the diagnostic accuracy of ML-based models in predicting FN outcomes following resection in the setting of VS. On December 12, 2024, the four electronic databases, Pubmed, Embase, Scopus, and Web of Science, were systematically searched. Studies that evaluated the performance outcomes of the ML-based predictive models were included. The pooled sensitivity, specificity, area under the curve (AUC), and diagnostic odds ratio (DOR) were calculated through the R program. Five studies with 807 individuals with VS, encompassing 35 models, were included. The meta-analysis showed a pooled sensitivity of 82 (95CI: 76-87), specificity of 79 (95CI: 74-84), and DOR of 12.94 (95CI: 8.65-19.34) with an AUC of 0.841. The meta-analysis of the best performance model demonstrated a pooled sensitivity of 91 (95CI: 80-96), specificity of 87 (95CI: 82-91), and DOR of 46.84 (95CI: 19.8-110.8). Additionally, the analysis demonstrated an AUC of 0.92, a sensitivity of 0.884, and a false positive rate of 0.136 for the best performance models. ML-based models possess promising diagnostic accuracy in predicting FN outcomes following resection
Autism Spectrum Disorder and Dietary Intake of Vitamin E
No full textBackground: Autism Spectrum Disorder (ASD) is a complicated condition that affects brain development, possibly caused by genetics and environmental factors. Individuals with ASD manifest a lack of balance between pathways that cause oxidative stress and levels of anti-oxidant agents. However, the association between ASD and dietary intake of antioxidants, such as vitamin E, is not yet clear. Objectives: This study aimed to compare the dietary vitamin E intake in children with ASD and typically developing (TD) children. Methods: Totally, 110 individuals with ASD from 5 to 15 years were selected as the case group and 110 TD children of the same age group were selected as the control group. The (GARS 2) was used to confirm the participants' ASD diagnoses. The food frequency questionnaire (FFQ) was used for collecting the required information on the child's diet. The Nutritionist IV software was used to evaluate the intake of different types of vitamin E. Result: A significantly lower intake of dietary vitamin E was observed in individuals with ASD relative to the control group (15.66 +/- 12.72 vs. 28.60 +/- 10.85 mg/day, p > 0.001). After adjusting for confounders such as age, gender, mother's age, Body Mass Index (BMI), and diet, decreased vitamin E intake was associated with an increased risk of developing ASD (OR = 0.90, 95 CI: 0.85-0.94, p < 0.001). Conclusion: An increased intake of vitamin E may be associated with a decreased risk of ASD. Further research is required to confirm this finding
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
No full textPurpose: FLVCR1 encodes a solute carrier protein implicated in heme, choline, and ethanol- amine transport. Although Flvcr1-/- mice exhibit skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia (DBA), biallelic FLVCR1 variants in humans have previously only been linked to childhood or adult-onset ataxia, sensory neuropathy, and retinitis pigmentosa. Methods: We identified individuals with undiagnosed neurodevelopmental disorders and biallelic FLVCR1 variants through international data sharing and characterized the functional consequences of their FLVCR1 variants. Results: We ascertained 30 patients from 23 unrelated families with biallelic FLVCR1 variants and characterized a novel FLVCR1-related phenotype: severe developmental disorders with profound developmental delay, microcephaly (z-score - 2.5 to - 10.5), brain malformations, epilepsy, spasticity, and premature death. Brain malformations ranged from mild brain volume reduction to hydranencephaly. Severely affected patients share traits, including macrocytic anemia and skeletal malformations, with Flvcr1-/- mice and DBA. FLVCR1 variants signifi- cantly reduce choline and ethanolamine transport and/or disrupt mRNA splicing. Conclusion: These data demonstrate a broad FLVCR1-related phenotypic spectrum ranging from severe multiorgan developmental disorders resembling DBA to adult-onset neurodegeneration. Our study expands our understanding of Mendelian choline and ethanolamine disorders and illustrates the importance of anticipating a wide phenotypic spectrum for known disease genes and incorporating model organism data into genome analysis to maximize genetic testing yield. (c) 2024 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies
Healthy eating behaviors may be associated with lower risk of premature coronary artery disease: A multi-center case-control study
No full textBACKGROUND: Despite some evidence on individual eating habits in relation to cardiovascular disease, little is known about the combination of common eating habits in relation to premature coronary artery disease (PCAD). OBJECTIVE: We investigated the association between a combined eating habits score (EHS) and PCAD risk. METHODS: In this case-control study, 2022 patients with PCAD and 1063 healthy control were recruited. Women aged between 18 and 70 and men aged between 18 and 60 years were eligible. PCAD was defined as 75 or more stenosis in a single coronary artery disease or at least 50 in the left main coronary artery. Eating habits were assessed through interview and higher scores represent healthier behaviors. RESULTS: Participants in the fourth quartile of EHS had 22 lower risk of PCAD than those in the first quartile (95 CI: 0.61, 0.99; P = 0.024). Not adding salt at the table (OR = 0.80, 95 CI: 0.66, 0.97; P = 0.023), low-salt meals (OR = 0.75, 95 CI: 0.57, 0.99; P = 0.022), and slow eating (OR = 0.42, 95 CI: 0.24, 0.71; P < 0.001) were associated with lower risk of PCAD while more water drinking (OR = 1.56, 95 CI: 1.07, 2.27; P = 0.013), and increased meal frequency (OR = 1.85, 95 CI: 1.09, 3.13; P = 0.025) were linked with increased risk of PCAD. CONCLUSION: Healthy eating behaviors score, particularly low salt intake and slow eating were associated with lower risk of PCAD. However, higher meal frequency and more water drinking were associated with increased risk of PCAD. Well-designed prospective cohort studies are required
Germline variants in patients from the Iranian hereditary colorectal cancer registry
No full textBACKGROUND AND AIM: Hereditary cancer syndromes account for 6-10 of all colorectal cancer (CRC) cases and 20 of early-onset CRC. Identifying novel pathogenic germline variants can impact genetic testing, counseling, and surveillance. This study aimed to determine the prevalence of germline variants associated with hereditary CRC in the Iranian population. METHODS: Whole exome sequencing (WES) was conducted on DNA from 101 patients in the Iranian Hereditary Colorectal Cancer Registry (IHCCR). The cohort included 63 high-risk Lynch Syndrome (LS) patients and 38 colorectal polyposis patients. Germline variants and phenotype spectrum were assessed. Relatives of individuals with the mutations received counseling and cascade testing. Gene ontology and protein-protein interaction (PPI) analyses were conducted to elucidate gene roles on protein function. RESULTS: Pathogenic/likely pathogenic (P/LP) variants were identified in Lynch-related genes in 36.51 of patients. P/LP variants in non-Lynch genes (ATM, FH (mono-allelic), MSH3, PMS1, and TP53) were identified in 26.98 of patients. Among polyposis patients, 50 had P/LP variants in the APC gene, and 15.79 had P/LP variants in the MUTYH gene. Additionally, 7.89 carried P/LP variants in non-FAP/MAP genes (BLM, BRCA2, and PTEN). MLH1 variants were most common in exons 10 and 18, MSH2 in exon 12, and APC gene in exon 16. Cascade testing identified 50 of the tested relatives (40/80). Topology analysis of the protein-protein interaction networks in high-risk LS cases highlighted stronger connections among nodes for genes such as TP53, ATM, POLD1, CDH1, MUTYH, WRN, NOTCH1, SMAD4, ERCC4, ERCC1, and MSH3. These genes were associated with high penetrance in CRC. The protein-protein interaction analyses of polyposis patients indicated that genes like POLE, MSH6, MSH2, BRCA2, BRCA1, MLH1, TOPBP1, BLM, RAD50, MUTYH, MSH3, MLH3, PTEN, BRIP1, and POLK had a higher degree value and were also associated with high penetrance. Gene ontology and protein-protein interaction (PPI) analysis showed that some of the top-scoring non-Lynch genes were TP53, ATM, POLD1, CDH1, MUTYH, WRN, NOTCH1, SMAD4, ERCC4, ERCC1, and MSH3. CONCLUSIONS: The study identified crucial germline variants for hereditary polyposis and non-polyposis CRC pathogenesis in the Iranian population. A selective strategy and cascade genetic testing are recommended for the diagnosis of hereditary colorectal cancer syndromes
Advanced Technologies for Cancer Immunotherapy: Focus on Gastrointestinal Cancers
No full textImmunotherapy is becoming an alternative method for gastrointestinal cancers, such as colorectal, gastric, and liver cancers. This field of research focuses on utilizing the immune system to recognize and eliminate cancer cells. One important method is immune checkpoint inhibitors, which enable T cells to recognize and attack tumor cells by releasing the immune system's brakes. Chimeric antigen receptor (CAR) T-cell therapy is another approach that modifies a patient's T cells to express receptors specific to tumor-associated antigens. Some cancer vaccines have demonstrated positive results in clinical trials, particularly colorectal and gastric cancers. Despite progress, challenges exist in immunotherapy for gastrointestinal cancers, such as treatment resistance, limited biomarkers for patient selection, and identifying new targets. In this review, different immunotherapy methods for all types of gastrointestinal cancers will be studied, and the limitations and benefits of each will be discussed in detail. By delving into the various immunotherapy methods, their limitations, and benefits, this review offers valuable insights that could potentially shape the future of gastrointestinal cancer treatment. It not only sheds light on the promising advancements in immune checkpoint inhibitors, CAR T-cell therapy, and cancer vaccines but also highlights the existing challenges that demand further research and innovation
Effectiveness of an intervention designed based on the Health Action Process Approach on obesity surgery outcomes in patients who have undergone bariatric surgery after one year: A randomized controlled trial
No full textBACKGROUND: Bariatric surgery is effective in treating severe obesity. However, surgery alone, without additional behavior change management, may not lead to optimal long-term weight loss and maintenance. This study aimed to evaluate an intervention designed based on the Health Action Process Approach to improve outcomes of obesity surgery in patients who underwent bariatric surgery in Tehran, Iran. METHODS: In this randomized controlled trial, a total of 100 patients who had undergone bariatric surgery after the past year were randomly assigned to two intervention (n = 50) and control (n = 50) groups. The intervention group received educational intervention for two months. Health action process approach (HAPA) constructs, the Bariatric Surgery Self-Management Behaviors Questionnaire (BSSQ), dietary recall, blood chemistry parameters, BMI, percentage of body weight loss, and the International Physical Activity Questionnaire (IPAC) were measured at baseline and four months after the intervention. To compare the changes between the two groups before and four months after the educational intervention, the interaction of group and time was analyzed using the generalized estimating equation (GEE). A p-value of less than 0.05 was considered statistically significant. RESULTS: The educational intervention resulted in improvements in various aspects of self-efficacy, including task and coping self-efficacy constructs (P = 0.02), action planning (P < 0.01) and behavioral intention (P < 0.01) related to diet self-management. There were also statistically significant improvements in action planning (P = 0.02), risk perception (P = 0.01) and Recovery self- efficacy (P = 0.01) related to the self-management of physical activity. There were significant improvements in the iron blood test results (P = 0.01) among the patients. CONCLUSION: Our intervention, designed based on the Health Action Process Approach, led to improvements in dietary and physical activity outcomes among patients who underwent bariatric surgery. Trial Registration: Iran Randomized Clinical Trials IRCT20230722058887N1
Retraction notice to "In situ treatment of metalworking wastewater by chemical addition-dissolved air flotation coupled with UV, H(2)O(2) & ZnO" Heliyon 6 (2020) e03091
No full textThis retracts the article DOI: 10.1016/j.heliyon.2019.e03091.
Use of Drugs Affecting GABA(A) Receptors and the Risk of Developing Alzheimer's Disease and Dementia: a Meta-Analysis and Literature Review
No full textThe gamma-aminobutyric acid (GABA) system is known for its role in cognitive functions and memory processes. However, the activity of GABA(A) receptors and their associated pathways influence the accumulation of beta-amyloid peptide (Abeta), a key hallmark in the development and prognosis of research examining the relationship between the use of drugs affecting GABA(A) receptors and the risk of developing Alzheimer's disease (AD) and dementia. This study aimed to examine the association between GABAA receptor-affecting drugs and the risk of AD and dementia, focusing on benzodiazepines, zolpidem, and anesthetics. This meta-analysis included all English articles on AD, dementia, and GABA(A) receptor agonist medications published before May 2024. The articles were identified through searches conducted on PubMed and Scopus databases. The extracted data were analyzed using STATA software (version 14.2). Q statistics and the I(2) index were used to evaluate heterogeneity, while Egger's test and funnel plot were utilized to detect publication bias. A total of 19 articles (10 case-control and 9 cohort articles) were eligible for the analysis, involving 2,953,980 patients. The use of GABA agonists was found to have a statistically significant relationship with the development of dementia (RR = 1.15, 95 CI: 1.02-1.29, I(2) = 87.6) and AD (RR = 1.21, 95 CI: 1.04-1.40, I(2) = 97.6). In the drug-based subgroup, we observed that zolpidem consumption was associated with an increased incidence of AD and dementia (RR = 1.28, 95 CI: 1.08-1.52, I(2) = 24.3), similar to the effects of benzodiazepines (BZDs; RR = 1.11, 95 CI: 1.04-1.18, I(2) = 87.2). Meta-regression analysis showed that the duration of follow-up, which ranged from 5 to 11 years across the studies, was significantly associated with heterogeneity (P = 0.036). Our findings indicate that the use of zolpidem and BZD is associated with an increased risk of dementia and AD
Effect of Levothyroxine Therapy on Gestational Hypertension and Pre-Eclampsia in Pregnant Women with Subclinical Hypothyroidism, Hypothyroidism, and Thyroid Autoimmunity: A Systematic Review and Meta-analysis
No full textBACKGROUND: Gestational hypertension (GH) and preeclampsia (PE) are two important complications of pregnancy. Considering the U-shaped association between thyroidstimulating hormone (TSH) and hypertensive disorders of pregnancy in some reports, we decided to investigate the effect of levothyroxine treatment on GH and PE in pregnant women with subclinical hypothyroidism (SGH), overt hypothyroidism (OH), and autoimmune thyroid diseases. METHODS: Google Scholar and databases, such as ProQuest, Medline, Cochrane Library, ScienceDirect, and Scopus were searched electronically for clinical trials and observational studies using the following search terms: (("levothyroxine" OR "LT4" OR "thyroxine supplementation") AND ("subclinical hypothyroidism" OR "SCH" OR "thyroid peroxidase antibodies" OR "autoimmune thyroid disease") AND ("pregnancy outcomes" OR "preeclampsia" OR "gestational hypertension" OR "PIH")). Further, we investigated the impact of levothyroxine on the incidence of GH and/or PE compared with control or placebo groups from April 4 to November 1, 2022. RESULTS: After treatment with levothyroxine, the odd ratios (ORs) of GH and PE in subclinical OR = 1.03, 95% CI: (0.85, 1.25), I(2) = 35.25%, P =0.78, OR = 1.02, 95% CI: (0.66,1.58), I(2) = 46.86%, P =0.94, respectively and overt hypothyroidism OR=1.10, 95% CI: (0.70,1.71), I(2) =38.44%, P =0.69, OR=1.32, 95% CI: (0.83, 2.09), I(2) =0.00%, P =0.24, respectively were not different from controls. Furthermore, this result was observed in studies that recruited women with SCH and OH OR=1.12, 95% CI: (0.58, 2.14), I(2)=92.74%, P =0.74, OR=0.51, 95% CI: (0.15, 1.72), I(2) =97.30%, P =0.28, respectively. Also, these studies compared thyroperoxidase antibodies between TPOAb-positive participants with TPOAb-negative controls (OR=1.01, 95% CI: (0.80, 1.28), I(2) =0.00%, P =0.90). However, LT4 reduced the risk of GH in TPOAb+ women compared with untreated TPOAb+ (OR=0.43, 95% CI: (0.30, 0.62), I(2) =0.00%, P =0.00). CONCLUSION: After LT4 therapy, the incidence rates of GH and PE in any form of hypothyroidism were not significantly different from controls. However, the reduction of GH in women with TPOAb+ who used levothyroxine needs further consideration