Category: Statistics

Medicina (B Aires). 2024;84(3):433-444.

ABSTRACT

INTRODUCTION: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant inherited disease with an estimated prevalence of 2-10:100 000. The main locations of tumors are parathyroid glands (HPT), gastroenteropancreatic tract (GEPT), and anterior pituitary gland (PT). The aim of our investigation was to describe the phenotype and genotype of Argentinian patients with MEN1.

METHODS: A total of 68 index patients diagnosed with at least two of the three main tumors or one tumor and a relative with MEN1, and 84 first-degree relatives were studied. We sequenced the coding region (exons 2-10); the promoter, exon 1; and the flanking intronic regions of the MEN1 gene, following the Sanger method. We used MLPA in index patients without mutation.

RESULTS: Prevalence of tumors: HPT 87.5%, GEPT 49% (p< 0.001). No statistical differences in the prevalence of HPT vs. PT (68%). Prevalence of pathogenic variants: 90% in familial cases and 51% in sporadic cases. Of the different 36 pathogenic variants, 13 (36.2%) were frameshift micro-rearrangement, 8 (22.2%) were missense, 9 (25%) were nonsense, 3 (8.3%) were mutations in splicing sites, 2 (5.5%) were large deletions and, 1 in-frame micro-rearrangement. We found 7 novel pathogenic variants. Thirty-nine percent (n = 33) of first-degree relatives of 23 families were found to be mutation carriers.

CONCLUSION: The phenotype and genotype of Argentinian patients was similar to other MEN1 populations. A high frequency of PT and the identification of seven novel mutations are underscored.

PMID:38907957

Medicina (B Aires). 2024;84(3):426-432.

ABSTRACT

INTRODUCTION: Prescription is the node of medication management and use that most frequently presents medication errors, according to various studies. This study aims to analyze prescriptions before and after the incorporation of a multidisciplinary round in the pediatric intensive care area and its implication in the occurrence of adverse drug events.

METHODS: This is an uncontrolled before and after study.

RESULTS: 100 patients were studied before and 100 after, range 1-17 years, mean age: 6.4 SD: 8.7. 55.5% (n = 111) were men. A prescription error was detected before the intervention of 12% (n = 12) and after 0% of the intervention, 0%, p = 0.001. A total of 45 adverse events were detected, that is, 45 adverse events per 100 admissions and 38, that is, 38 events per 100 admissions, before and after the intervention respectively (p > 0.05).

CONCLUSION: The intervention was useful to reduce prescription error in this sample of patients.

PMID:38907956

Medicina (B Aires). 2024;84(3):415-425.

ABSTRACT

INTRODUCTION: The different structural modifications that have been described in the heart of the high-performance athlete depend on factors such as age, gender, type of sport, and the intensity and time dedicated to training.

OBJECTIVES: Evaluation of elite athletes through echocardiography for the description of cardiac structure and function, and the comparison between athletes with cardiorespiratory endurance and the rest of the athletes.

METHODS: We performed the echocardiographic examination in 224 elite athletes, 96 women and 128 men aged 15 to 38 years (21.7 ± 5.3 years) and they were divided into 2 groups: “Endurance Group” (cardiorespiratory endurance) and “Non-Endurance Group” which included the rest of the sports. Univariate comparison between the two groups was performed by measuring 14 echocardiographic variables.

RESULTS: In men, statistically significant higher values were identified in the endurance group for interventricular septum, left ventricular posterior wall, relative wall thickness (RWT), left ventricular mass index and left atrial dimension. In women, the endurance group had significantly lower heart rate values, and significantly higher left ventricular diastolic dimension with normal RWT.

CONCLUSIONS: Most of the echocardiographic variables showed higher sample means in the endurance athletes. In the subgroup of men from the Endurance Group, eccentric hypertrophy prevailed with a greater increase in wall thickness, as well as in the diameter of the left atrium, while in women the variables indicated eccentric hypertrophy at the expense of an increase in left ventricle diameter, without increased wall thickness.

PMID:38907955

Medicina (B Aires). 2024;84(3):407-414.

ABSTRACT

INTRODUCTION: 90% of cases of acute low back pain have no specific underlying cause. International guidelines are available to help identify those individuals who require specialized care. However, in our country, there is a limited emphasis on primary healthcare, with the primary focus on hospital-based care. The aim of this study is to provide an overview of the diagnostic and therapeutic resources utilized in the initial care of patients experiencing low back pain at their first consultation with a specialist physician.

METHODS: Descriptive and cross-sectional study, with prospective data collection through a questionnaire administered to patients experiencing low back pain during their first visit to a specialist’s office.

RESULTS: A total of 44 patients were included, with an average age of 53 years; 50% sought medical attention for chronic pain. Informal referrals were associated with the referring physician’s specialty (non-orthopedic), patients with a higher number of emergency department visits, and longer waiting times to obtain the consultation; 52% of patients arrived with at least one complementary study.

CONCLUSION: Most of the referrals were appropriate; however, informal referrals were more common. Only 1/5 of the patients underwent an physical examination, and less than 30% of those with red flag symptoms presented with suitable complementary studies. The median waiting time for the consultation was 24 days.

PMID:38907954

Sleep Breath. 2024 Jun 22. doi: 10.1007/s11325-024-03076-3. Online ahead of print.

ABSTRACT

PURPOSE: This study aimed to evaluate the accuracy of a Bluetooth position monitor called NaTu sensor and its mobile phone application for detecting sleep position among patients with obstructive sleep apnea (OSA) during polysomnography (PSG).

METHODS: A cross-sectional study was conducted on adults with suspected of having OSA who underwent PSG. Sleep positions were recorded simultaneously using a video-validated PSG position sensor and the NaTu sensor. The area under the Receiver Operator Characteristic curve (ROC AUC), sensitivity, and specificity values were calculated to evaluate the validity of the NaTu sensor.

RESULTS: Ninety participants (56.7% male) were included, with median age of 40.0 years and body mass index of 29.4 kg/m². The mean AHI was 58.4 ± 31.2 events/hour, categorizing the severity of OSA as mild (5.6%), moderate (18.9%), and severe (75.5%). Sleep positions (supine, lateral right, lateral left) identified by the NaTu sensor closely agreed with the video-validated PSG. The kappa statistic demonstrated almost perfect agreement (k = 0.95, P < 0.001) for overall position recording. The ROC AUC for identifying supine, lateral right, and lateral left positions ranged from 0.974 to 0.981, with sensitivity ranging from 95.1% to 99.1% and specificity from 96.5% to 99.6%.

CONCLUSION: Our wearable sensor monitoring significantly agrees with video-validated PSG in identifying sleep positions. This device is reliable and accurate for position monitoring and could be an alternative tool for monitoring positions in in-lab PSG, home sleep apnea testing, or tracking positional treatment at home.

REGISTRATION: Thaiclinicaltrials.org with number TCTR20210701008.

PMID:38907950 | DOI:10.1007/s11325-024-03076-3

Drug Saf. 2024 Jun 22. doi: 10.1007/s40264-024-01449-x. Online ahead of print.

ABSTRACT

BACKGROUND: The safety profile of COVID-19 vaccines in immunocompromised patients has not been comprehensively evaluated.

AIM: To measure the frequency of patient-reported adverse drug reactions (ADRs) related to the first/second/booster dose of COVID-19 vaccine in immunocompromised subject versus matched cohort. As a secondary objective, the time course, evaluated as time to onset (TTO) and time to recovery (TTR), of COVID-19 vaccine-related ADRs was explored.

METHODS: A prospective cohort study, based on electronic questionnaires filled by vaccinees from 11 European countries in the period February 2021 to February 2023 was conducted. All immunocompromised vaccinees who provided informed consent and registered to the project’s web-app within 48 h after first/booster vaccine dose administration of any EMA-authorised COVID-19 vaccine were recruited. Participants filled baseline and up to six follow-up questionnaires (FU-Qs) over 6 months from vaccination, collecting information on suspected COVID-19 vaccine-related ADRs. As a control group, non-immunocompromised vaccinees from the same source population were 1:4 matched by sex, age, vaccine dose, and brand. A descriptive analysis of demographic/clinical characteristics of vaccinees was conducted. Heatmaps of the frequency of solicited ADRs, stratified by gender and vaccine brand, were generated. Median TTO/TTR of reported ADRs were visualised using violin/box-plots.

RESULTS: A total of 773 immunocompromised vaccines were included in the analyses. Most participants were females (F/M ratio: 2.1 and 1.6) with a median age of 56 (43-74) and 51 (41-60) years, at the first vaccination cycle and booster dose, respectively. Injection-site pain and fatigue were the most frequently reported ADRs in immunocompromised vaccinees with higher frequency than matched control, especially after the first dose (41.2% vs 37.8% and 38.2% vs 32.9%, respectively). For both cohorts, all solicited ADRs were more frequently reported in females than males, and in those who had received a first dose of the Vaxzevria vaccine. Dizziness was the most frequently reported unsolicited ADR after the first dose in both groups (immunocompromised subjects: 2.5% and matched controls: 2.1%). At the booster dose, lymphadenopathy (3.9%) and lymphadenitis (1.8%) were the most reported unsolicited ADRs for immunocompromised subjects and matched controls, respectively. A very low number of subjects reported adverse event of special interest (AESI) (2 immunocompromised, 3 matched controls) and serious ADRs (5 immunocompromised, 5 matched controls). A statistically significant difference among study cohorts was observed for median TTO after the booster dose, and for median TTR after the first vaccination cycle and booster dose (p < 0.001).

CONCLUSION: The overall safety profile of COVID-19 vaccines in immunocompromised people was favourable, with minor differences as compared to non-immunocompromised vaccinees. Participants mostly experienced mild ADRs, mainly reported after the first dose of Vaxzevria and Jcovden vaccines. Serious ADRs and AESI were rare.

PMID:38907947 | DOI:10.1007/s40264-024-01449-x

Diabetes Ther. 2024 Jun 22. doi: 10.1007/s13300-024-01609-3. Online ahead of print.

ABSTRACT

INTRODUCTION: The triglyceride-glucose index (TyG) has been identified as a dependable and simple indicator marker of insulin resistance (IR). Research has demonstrated a correlation between macrovascular complications and TyG. However, limited research exists regarding the relationship between TyG and diabetic microvascular complications. Consequently, the objective of this study is to investigate the association between TyG and diabetic kidney disease (DKD) and diabetic peripheral neuropathy (DPN).

METHODS: This is a cross-sectional, observational study. A total of 2048 patients from Tongren Hospital, Shanghai Jiao Tong University School of Medicine were enrolled. The primary outcomes are DKD and DPN. Quantile regression analysis was employed to investigate the implicit factors of TyG quartiles. Subsequently, based on implicit factors, logistic regression models were constructed to further examine the relationship between TyG and DKD and DPN.

RESULTS: In the baseline, TyG exhibited higher values across patients with DKD, DPN, and co-existence of DKD and DPN (DKD + DPN) in type 2 diabetes (T2D). Univariate logistic regressions demonstrated a significant association between an elevated TyG and an increased risk of DKD (OR = 1.842, [95% CI] 1.317-2.578, P for trend < 0.01), DPN (OR = 1.516, [95% CI] 1.114-2.288, P for trend < 0.05), DKD + DPN (OR = 2.088, [95% CI] 1.429-3.052, P for trend < 0.05). Multivariable logistic regression models suggested a statistically significant increase in the risk of DKD (OR = 1.581, [95% CI] 1.031-2.424, p < 0.05), DKD + DPN (OR = 1.779, [95% CI] 1.091-2.903, p < 0.05) after adjusting the implicit factors of TyG quartiles. However, no significant relationship was observed between TyG and DPN in the multivariable regression analysis.

CONCLUSIONS: Elevated TyG was significantly associated with an increased risk of DKD in T2D, but no significant relationship was shown with DPN. This finding provided further evidence for the clinical significance of integrating TyG into the initial assessment of diabetic microvascular complications.

PMID:38907937 | DOI:10.1007/s13300-024-01609-3

Methods Mol Biol. 2024;2809:171-192. doi: 10.1007/978-1-0716-3874-3_12.

ABSTRACT

To optimize outcomes in solid organ transplantation, the HLA genes are regularly compared and matched between the donor and recipient. However, in many cases a transplant cannot be fully matched, due to widespread variation across populations and the hyperpolymorphism of HLA alleles. Mismatches of the HLA molecules in transplanted tissue can be recognized by immune cells of the recipient, leading to immune response and possibly organ rejection. These adverse outcomes are reduced by analysis using epitope-focused models that consider the immune relevance of the mismatched HLA.PIRCHE, an acronym for Predicted Indirectly ReCognizable HLA Epitopes, aims to categorize and quantify HLA mismatches in a patient-donor pair by predicting HLA-derived T cell epitopes. Specifically, the algorithm predicts and counts the HLA-derived peptides that can be presented by the host HLA, known as indirectly-presented T cell epitopes. Looking at the immune-relevant epitopes within HLA allows a more biologically relevant understanding of immune response, and provides an expanded donor pool for a more refined matching strategy compared with allele-level matching. This PIRCHE algorithm is available for analysis of single transplantations, as well as bulk analysis for population studies and statistical analysis for comparison of probability of organ availability and risk profiles.

PMID:38907898 | DOI:10.1007/978-1-0716-3874-3_12

Methods Mol Biol. 2024;2809:101-113. doi: 10.1007/978-1-0716-3874-3_7.

ABSTRACT

HLA somatic mutations can alter the expression and function of HLA molecules, which in turn affect the ability of the immune system to recognize and respond to cancer cells. Therefore, it is crucial to accurately identify HLA somatic mutations to enhance our understanding of the interaction between cancer and the immune system and improve cancer treatment strategies. ALPHLARD-NT is a reliable tool that can accurately identify HLA somatic mutations as well as HLA genotypes from whole genome sequencing data of paired normal and tumor samples. Here, we provide a comprehensive guide on how to use ALPHLARD-NT and interpret the results.

PMID:38907893 | DOI:10.1007/978-1-0716-3874-3_7

Methods Mol Biol. 2024;2809:77-85. doi: 10.1007/978-1-0716-3874-3_5.

ABSTRACT

Human leukocyte antigen (HLA) imputation is an essential step following genome-wide association study, particularly when putative associations in HLA genes are identified, to fully understand the genetic basis of human traits. Different HLA imputation methods have been developed, each with its own advantages, and recent methods have been improved in terms of imputation accuracy and computational costs. Here, I describe Deep*HLA, a recently published method that employs deep learning algorithms to accurately impute HLA alleles from regional single nucleotide variants. Deep*HLA was trained and benchmarked on two reference panels of different ancestries. Deep*HLA achieved high imputation accuracy with relatively mild reduced imputation accuracy for rare alleles. I provide a detailed protocol for running Deep*HLA, including instructions for data preprocessing, model training, and imputation. Deep*HLA is implemented in Python 3 and is freely available.

PMID:38907891 | DOI:10.1007/978-1-0716-3874-3_5