Nevin Manimala

Invest Ophthalmol Vis Sci. 2024 Feb 1;65(2):39. doi: 10.1167/iovs.65.2.39.

ABSTRACT

PURPOSE: To review all reported disease-causing mutations in BEST1, perform genotype-phenotype correlation, and estimate disease prevalence in the Israeli population.

METHODS: Medical records of patients diagnosed with Best disease and allied diseases from nine Israeli medical centers over the past 20 years were collected, as were clinical data including ocular findings, electrophysiology results, and retina imaging. Mutation detection involved mainly whole exome sequencing and candidate gene analysis. Demographic data were obtained from the Israeli Bureau of Statistics (January 2023). A bibliometric study was also conducted to gather mutation data from online sources.

RESULTS: A total of 134 patients were clinically diagnosed with Best disease and related conditions. The estimated prevalence of Best disease was calculated to be 1 in 127,000, with higher rates among Arab Muslims (1 in 76,000) than Jews (1 in 145,000). Genetic causes were identified in 76 individuals (57%), primarily showing autosomal-dominant inheritance due to BEST1 mutations (58 patients). Critical conserved domains were identified consisting of a high percentage of dominant missense mutations, primarily in transmembrane domains and the intracellular region (Ca2+ binding domain) of the BEST1 protein.

CONCLUSIONS: This study represents the largest cohort of patients with Best disease reported in Israel and globally. The prevalence in Israel is akin to that in Denmark but is lower than that in the United States. Critical conserved domains within the BEST1 protein are pivotal for normal functioning, and even minor missense alterations in these areas lead to a dominant disease manifestation. Genetic testing is indispensable as the gold standard for Best disease diagnosis due to the variable clinical presentation of the disease.

PMID:38411968 | DOI:10.1167/iovs.65.2.39

JAMA Netw Open. 2024 Feb 5;7(2):e240465. doi: 10.1001/jamanetworkopen.2024.0465.

ABSTRACT

IMPORTANCE: Candidate gene analysis approaches have shown that colorectal cancer (CRC) risk attributable to diet may differ according to genotype. A genome-wide approach further allows for the exploration of underlying pathways for associations between diet and CRC risk across the genome.

OBJECTIVES: To identify genetic variants that modify diet-CRC associations and to further explore the underlying pathways in the cause of CRC.

DESIGN, SETTING, AND PARTICIPANTS: This nested case-control study used data on White British participants from the prospective cohort UK Biobank. Participants were recruited between March 13, 2006, and October 1, 2010, and data were censored June 25, 2021.

EXPOSURES: The average frequency intake of 11 dietary factors in the year preceding baseline was obtained via a touchscreen questionnaire. After quality control for more than 93 million variants of imputed genetic data, 4 122 345 variants remained.

MAIN OUTCOMES AND MEASURES: Colorectal cancer cases were identified according to the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision. Genome-wide interaction analysis was performed to test interactions between dietary factors and variants using a conditional logistic regression model. Summary statistics of interactions at the variant level were used to calculate empirical P values for interactions at gene and gene-set levels in gene-based and gene-set enrichment analyses.

RESULTS: A total of 4686 participants with CRC (mean [SD] age, 60.7 [6.6] years; 2707 men [57.8%]) received a new diagnosis during a median of 12.4 years (IQR, 11.6-13.1 years) of follow-up. Once a case was detected, 3 matched controls were identified, for a total of 14 058 controls (mean [SD] age, 60.4 [6.6] years; 8121 men [57.8%]). A total of 324 variants were identified that interacted with diet consumption at the suggestive threshold (P < 1 × 10-5). In gene-based analysis, aggregation of multiple EPDR1 gene variants was found to interact with fish intake regarding CRC risk. Furthermore, gene-set enrichment analysis found that several sets of protein-coding genes, which were overrepresented with particular functions and pathways, interacted with the consumption of milk (ART), cheese (OR), tea (KRT), and alcohol (PRM and TNP).

CONCLUSIONS AND RELEVANCE: In this nested case-control study, the risk of CRC associated with fish intake was modified by multiple single-nucleotide polymorphisms of the EPDR1 gene. The findings further suggested possible functions and pathways that might link the consumption of milk, cheese, tea, and alcohol with CRC development.

PMID:38411962 | DOI:10.1001/jamanetworkopen.2024.0465

Blood Press Monit. 2024 Feb 19. doi: 10.1097/MBP.0000000000000694. Online ahead of print.

ABSTRACT

OBJECTIVE: To validate the noninvasive blood pressure monitoring function of the EDAN elite V5 patient monitor with reference invasive blood pressure monitoring equipment for clinical use in adults, adolescents or children according to the International Organization for Standardization (ISO) 81060-2:2018 standard.

METHODS: Patients were recruited, and the ipsilateral sequential method was used for blood pressure measurement according to the standard. The validation results were assessed following the protocol and the Bland-Altman scatterplot was used to show the difference between the test device and reference invasive blood pressure results.

RESULTS: A total of 71 patients were included in the study, with 35 and 36 patients for each iFAST and iCUFS mode, respectively. The validation results showed an average device-reference difference of -3.27 ± 5.60 mmHg for SBP and -0.09 ± 6.10 mmHg for DBP for the iFAST mode, and -2.04 ± 5.55 mmHg for SBP and -0.79 ± 5.86 mmHg for DBP for the iCUFS mode, respectively, which passed the criteria of the ISO 81060-2 : 2018 in adults, adolescents or children population for both SBP and DBP.

CONCLUSION: The noninvasive blood pressure monitoring function of the EDAN elite V5 patient monitor passed all the requirements of ISO 81060-2:2018 and can be recommended for clinical use in adults, adolescents, or children.

PMID:38411950 | DOI:10.1097/MBP.0000000000000694

Biol Trace Elem Res. 2024 Feb 27. doi: 10.1007/s12011-024-04120-9. Online ahead of print.

ABSTRACT

The objective was to explore the effect modification of zinc (Zn) intake levels on the relationship of tobacco smoke exposure and risk of metabolic syndrome (MetS) in children and adolescents. We used data from 2007-2018 National Health and Nutrition Examination Survey (N = 3701). MetS was considered as main endpoint. Weighted multivariable logistic regression models showed that high cotinine level (≥ 0.05 ng/mL) was associated with increased odds of MetS [odds ratio = 1.54, 95% confidence interval: 1.01, 2.36], and the association between Zn intake levels and MetS did not demonstrate statistical significance. Importantly, the multiplicative interaction term between low Zn intake (≤ 4.89 mg/1000 kcal) and high cotinine level was related to higher odds of MetS (p-value for interaction 0.018). For the group with low Zn intake, high cotinine level was associated with increased odds of MetS. However, there was no significant relationship between cotinine levels and MetS risk in the group with high Zn intake. The effect modification by Zn intake on the relationship of tobacco smoke exposure and risk of MetS is significant in individuals who had a sedentary time of ≥ 6 h, identified as non-Hispanic White, or resided in households with smokers. In short, low Zn intake may potentiate the association of tobacco smoke exposure and MetS risk in children and adolescents.

PMID:38411892 | DOI:10.1007/s12011-024-04120-9

Insights Imaging. 2024 Feb 27;15(1):60. doi: 10.1186/s13244-024-01615-w.

ABSTRACT

OBJECTIVES: Emerging evidence suggests a potential relationship between body composition and short-term prognosis of ulcerative colitis (UC). Early and accurate assessment of rapid remission based on conventional therapy via abdominal computed tomography (CT) images has rarely been investigated. This study aimed to build a prediction model using CT-based body composition parameters for UC risk stratification.

METHODS: In total, 138 patients with abdominal CT images were enrolled. Eleven quantitative parameters related to body composition involving skeletal muscle mass, visceral adipose tissue (VAT), and subcutaneous adipose tissue (SAT) were measured and calculated using a semi-automated segmentation method. A prediction model was established with significant parameters using a multivariable logistic regression. The receiver operating characteristic (ROC) curve was plotted to evaluate prediction performance. Subgroup analyses were implemented to evaluate the diagnostic efficiency of the prediction model between different disease locations, centers, and CT scanners. The Delong test was used for statistical comparison of ROC curves.

RESULTS: VAT density, SAT density, gender, and visceral obesity were significantly statistically different between remission and invalidation groups (all p < 0.05). The accuracy, sensitivity, specificity, and area under the ROC curve (AUC) of the prediction model were 82.61%, 95.45%, 69.89%, and 0.855 (0.792-0.917), respectively. The positive predictive value and negative predictive value were 70.79% and 93.88%, respectively. No significant differences in the AUC of the prediction model were found in different subgroups (all p > 0.05).

CONCLUSIONS: The predicting model constructed with CT-based body composition parameters is a potential non-invasive approach for short-term prognosis identification and risk stratification. Additionally, VAT density was an independent predictor for escalating therapeutic regimens in UC cohorts.

CRITICAL RELEVANCE STATEMENT: The CT images were used for evaluating body composition and risk stratification of ulcerative colitis patients, and a potential non-invasive prediction model was constructed to identify non-responders with conventional therapy for making therapeutic regimens timely and accurately.

KEY POINTS: • CT-based prediction models help divide patients into invalidation and remission groups in UC. • Results of the subgroup analysis confirmed the stability of the prediction model with a high AUC (all > 0.820). • The visceral adipose tissue density was an independent predictor of bad short-term prognosis in UC.

PMID:38411849 | DOI:10.1186/s13244-024-01615-w

Cogn Res Princ Implic. 2024 Feb 27;9(1):11. doi: 10.1186/s41235-024-00540-2.

ABSTRACT

Experimental psychology is witnessing an increase in research on individual differences, which requires the development of new tasks that can reliably assess variations among participants. To do this, cognitive researchers need statistical methods that many researchers have not learned during their training. The lack of expertise can pose challenges not only in designing good, new tasks but also in evaluating tasks developed by others. To bridge the gap, this article provides an overview of test psychology applied to performance tasks, covering fundamental concepts such as standardization, reliability, norming and validity. It provides practical guidelines for developing and evaluating experimental tasks, as well as for combining tasks to better understand individual differences. To further address common misconceptions, the article lists 11 prevailing myths. The purpose of this guide is to provide experimental psychologists with the knowledge and tools needed to conduct rigorous and insightful studies of individual differences.

PMID:38411837 | DOI:10.1186/s41235-024-00540-2

J Med Syst. 2024 Feb 27;48(1):26. doi: 10.1007/s10916-024-02044-4.

ABSTRACT

INTRODUCTION: ChatGPT, a recently released chatbot from OpenAI, has found applications in various aspects of life, including academic research. This study investigated the knowledge, perceptions, and attitudes of researchers towards using ChatGPT and other chatbots in academic research.

METHODS: A pre-designed, self-administered survey using Google Forms was employed to conduct the study. The questionnaire assessed participants’ knowledge of ChatGPT and other chatbots, their awareness of current chatbot and artificial intelligence (AI) applications, and their attitudes towards ChatGPT and its potential research uses.

RESULTS: Two hundred researchers participated in the survey. A majority were female (57.5%), and over two-thirds belonged to the medical field (68%). While 67% had heard of ChatGPT, only 11.5% had employed it in their research, primarily for rephrasing paragraphs and finding references. Interestingly, over one-third supported the notion of listing ChatGPT as an author in scientific publications. Concerns emerged regarding AI’s potential to automate researcher tasks, particularly in language editing, statistics, and data analysis. Additionally, roughly half expressed ethical concerns about using AI applications in scientific research.

CONCLUSION: The increasing use of chatbots in academic research necessitates thoughtful regulation that balances potential benefits with inherent limitations and potential risks. Chatbots should not be considered authors of scientific publications but rather assistants to researchers during manuscript preparation and review. Researchers should be equipped with proper training to utilize chatbots and other AI tools effectively and ethically.

PMID:38411833 | DOI:10.1007/s10916-024-02044-4

Dig Dis Sci. 2024 Feb 27. doi: 10.1007/s10620-023-08223-6. Online ahead of print.

ABSTRACT

BACKGROUND: Obesity and liver cirrhosis represent significant health challenges, often leading to various complications.

AIMS: This prospective study aimed to investigate the impact of a four-year bariatric intervention, focusing on adherence to the Mediterranean Diet, on anthropometric, hematologic, and biochemical parameters in obese patients with compensated liver cirrhosis. Additionally, the study evaluated the concurrent contribution of weight loss to these health indicators.

METHODS: The study involved 62 patients with compensated liver cirrhosis (mean age 65.87 ± 6 years) and 44 healthy controls (mean age 59.11 ± 8 years), all with a BMI > 30 kg/m². Both groups underwent a weight loss intervention based on the Mediterranean diet, with a four-year follow-up. Anthropometric, biochemical and hematologic parameters were evaluated at several time points during the study and their statistical significance was assessed.

RESULTS: Anthropometric parameters, including weight, BMI, waist and hip circumference, percentage of fat mass, and handgrip strength, exhibited significant improvements (p < 0.05), particularly within the first year of the intervention. Liver function tests and lipid profiles of the patients also showed significant enhancements (p < 0.05). Hematological and biochemical indices, such as hematocrit and ferritin, experienced discreet improvements in the patient cohort (p < 0.05).

CONCLUSIONS: This study highlights the potential of a structured bariatric intervention rooted in the Mediterranean diet to positively influence the health of obese patients with compensated liver cirrhosis. The observed improvements in anthropometric, biochemical, and hematologic parameters, particularly within the first year of the intervention, suggest the importance of dietary modifications in managing the health of this patient population.

PMID:38411795 | DOI:10.1007/s10620-023-08223-6

J Robot Surg. 2024 Feb 27;18(1):93. doi: 10.1007/s11701-024-01824-x.

ABSTRACT

Laparoscopic cholecystectomy (LC) has been standard of care for surgical treatment of benign gallbladder pathology for decades. With the advent of robotic surgical technology, robotic cholecystectomy (RC) has gained attention as an alternative to conventional laparoscopy. This study introduces a single-surgeon experience with laparoscopic versus robotic cholecystectomy and an umbrella systematic review of the outcomes of both approaches. A retrospective chart review was performed at a single institution on a prospectively maintained database of patients undergoing laparoscopic or robotic cholecystectomy for benign gallbladder pathology. An umbrella systematic review was conducted using PRISMA methodology. A total of 103 patients were identified; 61 patients underwent LC and 42 underwent RC. In the RC cohort, 17 cases were completed using a four-port technique while 25 were completed using a three-port technique. Patients undergoing RC were older compared to the LC group (44.78 vs 57.02 years old; p < 0.001) and exhibited lower body mass index (29.37 vs 32.37 kg/m², p = 0.040). No statistically significant difference in operative time or need for postoperative ERCP was noted. Neither this series nor the umbrella systematic review revealed significant differences in conversion to open surgery or readmissions between the LC and RC cohorts. Three-port RC was associated with reduced operative time compared to four-port RC (101.28 vs 150.76 min; p < 0.001). Robotic cholecystectomy is feasible and safe at a young robotic surgery program in an academic center setting and comparable to laparoscopic cholecystectomy clinical outcomes.

PMID:38411776 | DOI:10.1007/s11701-024-01824-x

Ann Intensive Care. 2024 Feb 27;14(1):33. doi: 10.1186/s13613-024-01243-z.

ABSTRACT

BACKGROUND: Ventilator-associated pneumonia (VAP) is the leading nosocomial infection in critical care and is associated with adverse outcomes. When VAP is suspected, starting antibiotic therapy (AT) immediately after pulmonary sampling may expose uninfected patients to unnecessary treatment, whereas waiting for bacteriological confirmation may delay AT in infected patients. As no robust data exist to choose between these strategies, the decision must balance the pre-test diagnostic probability, clinical severity, and risk of antimicrobial resistance. The objective of this study in patients with suspected non-severe VAP was to compare immediate AT started after sampling to conservative AT upon receipt of positive microbiological results. The outcomes were antibiotic sparing, AT suitability, and patient outcomes.

METHODS: This single-center, before-after study included consecutive patients who underwent distal respiratory sampling for a first suspected non-severe VAP episode (no shock requiring vasopressor therapy or severe acute respiratory distress syndrome). AT was started immediately after sampling in 2019 and upon culture positivity in 2022 (conservative strategy). The primary outcome was the number of days alive without AT by day 28. The secondary outcomes were mechanical ventilation duration, day-28 mortality, and AT suitability (active necessary AT or spared AT).

RESULTS: The immediate and conservative strategies were applied in 44 and 43 patients, respectively. Conservative and immediate AT were associated with similar days alive without AT (median [interquartile range], 18.0 [0-21.0] vs. 16.0 [0-20.0], p = 0.50) and without broad-spectrum AT (p = 0.53) by day 28. AT was more often suitable in the conservative group (88.4% vs. 63.6%, p = 0.01), in which 27.9% of patients received no AT at all. No significant differences were found for mechanical ventilation duration (median [95%CI], 9.0 [6-19] vs. 9.0 [6-24] days, p = 0.65) or day-28 mortality (hazard ratio [95%CI], 0.85 [0.4-2.0], p = 0.71).

CONCLUSION: In patients with suspected non-severe VAP, waiting for microbiological confirmation was not associated with antibiotic sparing, compared to immediate AT. This result may be ascribable to low statistical power. AT suitability was better with the conservative strategy. None of the safety outcomes differed between groups. These findings would seem to allow a large, randomized trial comparing immediate and conservative AT strategies.

PMID:38411756 | DOI:10.1186/s13613-024-01243-z