Category: Nevin Manimala

Arch Endocrinol Metab. 2023 Mar 30;67(3):427-441. doi: 10.20945/2359-3997000000593.

ABSTRACT

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by CYP21A2 gene mutations, and its molecular diagnosis is widely used in clinical practice to confirm the hormonal diagnosis. Hence, considering the miscegenation of the Brazilian population, it is important to determine a mutations panel to optimise the molecular diagnosis. The objective was to review the CYP21A2 mutations’ distribution among Brazilian regions. Two reviewers screened Brazilian papers up to February 2020 in five databases. The pair-wise comparison test and Holm method were used in the statistical analysis. Nine studies were selected, comprising 769 patients from all regions. Low proportion of males and salt-wasters was identified in the North and Northeast regions, although without significant difference. Large gene rearrangements also had a low frequency, except in the Center-West and South regions (p < 0.05). The most frequent mutations were p.I172N, IVS2-13A/C>G, p.V281L and p.Q318X, and significant differences in their distributions were found: p.V281L was more frequent in the Southeast and p.Q318X in the Center-West and Northeast regions (p < 0.05). Thirteen new mutations were identified in 3.8%-15.2% of alleles, being more prevalent in the North region, and six mutations presented a founder effect gene. Genotype-phenotype correlation varied from 75.9%-97.3% among regions. The low prevalence of the salt-wasting form, affected males and severe mutations in some regions indicated pitfalls in the clinical diagnosis. The good genotype-phenotype correlation confirms the usefulness of molecular diagnosis; however, the Brazilian population also presents significant prevalence of novel mutations, which should be considered for a molecular panel.

PMID:37011374 | DOI:10.20945/2359-3997000000593

Arch Endocrinol Metab. 2023 Mar 30;67(3):372-377. doi: 10.20945/2359-3997000000590.

ABSTRACT

OBJECTIVE: To describe the distribution profile of thyroidectomies in Brazil from 2010 to 2020 from a macro-regional perspective.

MATERIALS AND METHODS: This is a retrospective, detailed and descriptive study built on secondary data obtained from the Hospital Information System of the Unified Health System (SIH/SUS). We organized the data in tables and grouped them according to the federative unit, macro-region, type of procedure, mortality rate, and year of performance. We performed statistical analysis using the χ² test to assess the association between the variables, observing a P value of < 0.05 and a confidence interval of 95%.

RESULTS: From 2010 to 2020, 160 219 thyroidectomy surgeries were performed, of which 77 812 (48.56%) were total, 38 064 (23.76%) partial and 41 191 (25.70%) oncological. The Southeast was responsible for the largest share of procedures, with 70 745 (44.15%), followed by the Northeast with 43 887 (27.39%). In 2020, the procedure was less performed, with 9226 (5.75%) surgeries. The total mortality rate was 0.16% during the study period.

CONCLUSION: We found that thyroidectomies are carried out mainly in the Southeastern, Northeastern, and Southern regions, and showed a downward trend in 2020, which may be related to the COVID-19 pandemic. In addition, total thyroidectomy is the most performed surgery, and the Northern region had the highest mortality rate.

PMID:37011372 | DOI:10.20945/2359-3997000000590

Tex Heart Inst J. 2023 Mar 1;50(2):e227867. doi: 10.14503/THIJ-22-7867.

ABSTRACT

BACKGROUND: Pericardial effusion (PE) is a commonly encountered condition in clinical practice, but its etiology can be difficult to identify, with many cases remaining classified as idiopathic. This study aimed to investigate whether an association exists between asthma and idiopathic PE (IPE).

METHODS: Patients who had been diagnosed with PE in the authors’ outpatient cardiology clinics between March 2015 and November 2018 were retrospectively analyzed. The study population was divided into 2 groups-non-IPE (NIPE) and IPE-based on whether a cause had been identified. Demographic, laboratory, and clinical data for the 2 groups were examined statistically.

RESULTS: A total of 714 patients were enrolled in the study after exclusion of 40 cases. Of these 714 patients, 558 were allocated to the NIPE group and 156 to the IPE group (NIPE group median [IQR] age, 50 [41-58] years vs IPE group median [IQR] age, 47 [39-56] years; P = .03). Asthma was significantly more prevalent among patients in the IPE group than among those in the NIPE group (n = 54 [34.6%] vs n = 82 [14.7%]; P < .001). In multivariate logistic regression analysis, asthma (odds ratio, 2.67 [95% CI, 1.53-4.67]; P = .001) was found to be an independent predictor of IPE. In the IPE group, patients with asthma had either mild or moderate PE, with the right atrium being the most common location in these patients.

CONCLUSION: Asthma was an independent predictor of mild to moderate IPE. The right atrium was the most frequently encountered location for PE in patients with asthma.

PMID:37011363 | DOI:10.14503/THIJ-22-7867

Health Aff (Millwood). 2023 Apr;42(4):508-515. doi: 10.1377/hlthaff.2022.01205.

ABSTRACT

Computer code that transfers data to third parties (third-party tracking) is common across the web and is subject to few federal privacy regulations. We determined the presence of potentially privacy-compromising data transfers to third parties on a census of US nonfederal acute care hospital websites, and we used descriptive statistics and regression analyses to determine the hospital characteristics associated with a greater number of third-party data transfers. We found that third-party tracking is present on 98.6 percent of hospital websites, including transfers to large technology companies, social media companies, advertising firms, and data brokers. Hospitals in health systems, hospitals with a medical school affiliation, and hospitals serving more urban patient populations all exposed visitors to higher levels of tracking in adjusted analyses. By including third-party tracking code on their websites, hospitals are facilitating the profiling of their patients by third parties. These practices can lead to dignitary harms, which occur when third parties gain access to sensitive health information that a person would not wish to share. These practices may also lead to increased health-related advertising that targets patients, as well as to legal liability for hospitals.

PMID:37011312 | DOI:10.1377/hlthaff.2022.01205

Health Aff (Millwood). 2023 Apr;42(4):470-478. doi: 10.1377/hlthaff.2022.00501.

ABSTRACT

Medicare is a primary source of health insurance coverage for several million people younger than age sixty-five who have long-term disabilities. This analysis compared measures of access to care, cost concerns, and satisfaction with care for beneficiaries younger than age sixty-five versus those ages sixty-five and older, using the 2019 Medicare Current Beneficiary Survey. We also compared beneficiaries in traditional Medicare with those in Medicare Advantage, given that a growing share of younger beneficiaries with disabilities are enrolled in private plans. We found that Medicare beneficiaries younger than age sixty-five reported worse access to care, more cost concerns, and lower satisfaction with care than beneficiaries ages sixty-five and older, regardless of their type of Medicare coverage. Among beneficiaries younger than age sixty-five in traditional Medicare, the share reporting cost concerns was highest among those without supplemental coverage. All of these differences were statistically significant. Addressing gaps in coverage for people with disabilities could improve experiences for this often-overlooked segment of the Medicare population.

PMID:37011311 | DOI:10.1377/hlthaff.2022.00501

Rev Esc Enferm USP. 2023 Mar 31;57:e20220097. doi: 10.1590/1980-220X-REEUSP-2022-0097en. eCollection 2023.

ABSTRACT

OBJECTIVE: The objective of this paper was threefold: To assess risk factors of blood-borne pathogen exposure and viral infection for employees at their workplace, to spot the differences between groups of respondents without exposure and those exposed to blood-borne infections, and to identify main risk predictors.

METHOD: The Cross-Sectional Study was conducted, surveying 203 employees, at the Institute for Emergency Medical Services in Serbia, which were eligible to enter the study and surveyed by Previously Developed Questionnaire.

RESULTS: A total of 97.60% of respondents have perceived risk at their workplace, but there were low numbers of HIV, HbcAg, and Anti-HCV testing and poor percent of vaccination for hepatitis B. There were no statistically significant differences between spotted groups of respondents in their attitudes. Three variables were predictors: accidental usedneedle stick injuries (OR = 90.34; 95% CI, 8.79-928.03), contact with the blood of patientsthrough the skin (OR = 176.94; 95% CI, 24.95-1254.61), and the years of service (OR = 0.92; 95% CI, 0.86-1.00).

CONCLUSION: The significance of this study is that it points to a double risk, because not only health workers are endangered, but also citizens who receive first aid.

PMID:37011285 | DOI:10.1590/1980-220X-REEUSP-2022-0097en

Pediatr Emerg Care. 2023 Apr 4. doi: 10.1097/PEC.0000000000002937. Online ahead of print.

ABSTRACT

OBJECTIVES: Clean-catch urine is essential in the investigation of an unwell child but can unfortunately be difficult to obtain in nontoilet-trained children. To this end, we compared the difference in time taken to collect clean-catch urine in nontoilet-trained children via the use of point-of-care ultrasound and traditional methods.

METHODS: A single-center randomized controlled trial was conducted at an urban pediatric emergency department, recruiting 80 patients, of which 73 underwent data analyses. Participants were randomized to either the control arm, which consisted of the traditional “watch and wait” method of collecting a clean-catch sample, or to the intervention arm, which used point-of-care ultrasound to assess bladder volume and to stimulate the micturition reflex. The primary outcome measured was the mean time taken to collect a clean-catch urine sample.

RESULTS: Eighty patients (ultrasound, n = 41; standard care, n = 39) underwent randomization using a random number generator. Seven patients were removed from final analysis due to loss to follow-up for various reasons. Seventy-three patients (ultrasound, n = 37; standard care, n = 36) underwent statistical analysis. The ultrasound group had a median time to clean-catch urine of 40 minutes (interquartile range, 52) and mean time of 52 minutes (standard deviation, 42), and the control group had a median time of 55 minutes (interquartile range, 81), and mean time of 82 minutes (standard deviation, 90). This reached statistical significance (1-tail t test, P = 0.033). The baseline characteristics were similar between both groups for sex and age distribution; however, the mean ages were significantly different (2-tail t test, P = 0.049) with 8.4 months in the control group, and 12.3 months in the ultrasound group.

CONCLUSIONS: We found that there was a statistically and clinically significant reduction in mean time taken to collect clean-catch urine in nontoilet-trained children using point-of-care ultrasound compared with the traditional watch and wait method.

PMID:37011266 | DOI:10.1097/PEC.0000000000002937

Med Image Comput Comput Assist Interv. 2022 Sep;13432:474-484. doi: 10.1007/978-3-031-16434-7_46. Epub 2022 Sep 16.

ABSTRACT

Statistical shape modeling (SSM) directly from 3D medical images is an underutilized tool for detecting pathology, diagnosing disease, and conducting population-level morphology analysis. Deep learning frameworks have increased the feasibility of adopting SSM in medical practice by reducing the expert-driven manual and computational overhead in traditional SSM workflows. However, translating such frameworks to clinical practice requires calibrated uncertainty measures as neural networks can produce over-confident predictions that cannot be trusted in sensitive clinical decision-making. Existing techniques for predicting shape with aleatoric (data-dependent) uncertainty utilize a principal component analysis (PCA) based shape representation computed in isolation of the model training. This constraint restricts the learning task to solely estimating pre-defined shape descriptors from 3D images and imposes a linear relationship between this shape representation and the output (i.e., shape) space. In this paper, we propose a principled framework based on the variational information bottleneck theory to relax these assumptions while predicting probabilistic shapes of anatomy directly from images without supervised encoding of shape descriptors. Here, the latent representation is learned in the context of the learning task, resulting in a more scalable, flexible model that better captures data non-linearity. Additionally, this model is self-regularized and generalizes better given limited training data. Our experiments demonstrate that the proposed method provides an accuracy improvement and better calibrated aleatoric uncertainty estimates than state-of-the-art methods.

PMID:37011237 | PMC:PMC10063212 | DOI:10.1007/978-3-031-16434-7_46

Proc Natl Acad Sci U S A. 2023 Apr 11;120(15):e2214199120. doi: 10.1073/pnas.2214199120. Epub 2023 Apr 3.

ABSTRACT

Poikilothermic animals comprise most species on Earth and are especially sensitive to changes in environmental temperatures. Species conservation in a changing climate relies upon predictions of species responses to future conditions, yet predicting species responses to climate change when temperatures exceed the bounds of observed data is fraught with challenges. We present a physiologically guided abundance (PGA) model that combines observations of species abundance and environmental conditions with laboratory-derived data on the physiological response of poikilotherms to temperature to predict species geographical distributions and abundance in response to climate change. The model incorporates uncertainty in laboratory-derived thermal response curves and provides estimates of thermal habitat suitability and extinction probability based on site-specific conditions. We show that temperature-driven changes in distributions, local extinction, and abundance of cold, cool, and warm-adapted species vary substantially when physiological information is incorporated. Notably, cold-adapted species were predicted by the PGA model to be extirpated in 61% of locations that they currently inhabit, while extirpation was never predicted by a correlative niche model. Failure to account for species-specific physiological constraints could lead to unrealistic predictions under a warming climate, including underestimates of local extirpation for cold-adapted species near the edges of their climate niche space and overoptimistic predictions of warm-adapted species.

PMID:37011195 | DOI:10.1073/pnas.2214199120

J Clin Endocrinol Metab. 2023 Apr 3:dgad188. doi: 10.1210/clinem/dgad188. Online ahead of print.

ABSTRACT

CONTEXT: Challenges do exist in the management of GCK-MODY, especially during pregnancy.

OBJECTIVE: To evaluate prevalence of congenital anomaly in new-borns from GCK-MODY mothers, and the relationship between fetus genotype and the risk of congenital malformation as well as other adverse pregnancy outcomes.

DATA SOURCES: The electronic databases including PubMed, EMBASE, and Cochrane database last updated on July 16nd, 2022 were searched.

STUDY SELECTION: We included observational studies conducted in GCK-MODY complicated with pregnancy, and reporting at least one of the pregnancy outcome.

DATA EXTRACTION: We extracted data in duplicate and the risk of bias was evaluated by Newcastle-Ottawa Quality Assessment Scale (NOS). All the statistical analysis was performed by Cochrane Review Manager.

RESULTS: Eight studies were selected in the meta-analysis. Five were of high quality and 3 were of medium quality evaluated by NOS. A total of 257 GCK-MODY mothers and 499 offsprings were enrolled. Among them, 370 offsprings were divided into two group: GCK affected offspring (GCK+, n=238) and GCK unaffected offspring (GCK-, n=132). The percentage of congenital malformations in GCK pregnant women’s offspring was 2.4%. The risk of congenital malformations was similar between GCK+ and GCK- group (OR=0.56, 95%CI 0.07-4.51, I2=0%, P=0.59). The risk of macrosomia/LGA, neonatal hypoglycemia and combined adverse neonatal outcome was significantly lower in offsprings with GCK mutation compared with non GCK mutation carriers.

CONCLUSIONS: The percentage of congenital malformations was 2.4% in GCK pregnant women’s offsprings, and the new-borns with GCK mutation have lower birth complication than non GCK mutation carriers.

PMID:37011183 | DOI:10.1210/clinem/dgad188