Category: Statistics

DNA Res. 2024 Jun 22:dsae020. doi: 10.1093/dnares/dsae020. Online ahead of print.

ABSTRACT

The black sea urchin (Arbacia lixula) is a keystone species inhabiting the coastal shallow waters of the Mediterranean Sea, which is a key driver of littoral communities’ structure. Here, we present the first genome assembly and annotation of this species, standing as the first Arbacioida genome, including both nuclear and mitochondrial genomes. To obtain a chromosome-level assembly, we used a combination of PacBio high fidelity (HiFi) reads and chromatin capture reads (Omni-C). In addition, we generated a high-quality nuclear annotation of both coding and non-coding genes, by using published RNA-Seq data from several individuals of A. lixula and gene models from closely related species. The nuclear genome assembly has a total span of 607.91 Mb, being consistent with its experimentally estimated genome size. The assembly contains 22 chromosome-scale scaffolds (96.52% of the total length), which coincides with its known karyotype. A total of 72,767 transcripts were predicted from the nuclear genome, 24,171 coding, and 48,596 non-coding that included lncRNA, snoRNA, and tRNAs. The circularized mitochondrial genome had 15740 bp comprising 13 protein-coding genes, 2 rRNA, and 22 tRNA. This reference genome will enhance ongoing A. lixula studies and benefit the wider sea urchin scientific community.

PMID:38908014 | DOI:10.1093/dnares/dsae020

Medicina (B Aires). 2024;84(3):526-533.

ABSTRACT

INTRODUCTION: Visual inspection with acetic acid (VIA) is a primary alternative to reduce cervical cancer (CaCu) incidence and mortality. The study aimed to determine the proportion of women aged 30-49 years who used VIA in the last two years and the factors associated with the use of the test in the primary care setting.

METHODS: Cross-sectional, multicenter study. Seven hundred and six women aged 30 to 49 years participated, users of primary health care centers in a region of Peru. The dependent variable was the use of the VIA test in the last two years and the independent variables were sociodemographic, socio-health, information and attitudinal factors.

RESULTS: The proportion of women who used the VIA test was 30.6%. The following factors were associated with greater use of the test: urban area of residence, having received a recommendation for VIA, feeling worried about acquiring CaCu, having heard about CaCu and the human papilloma virus. Also, considering having a greater or equal probability of developing CaCu compared to women of the same age, and with lower use of the test, coming from the highlands and considering it risky to undergo VIA.

CONCLUSION: The VIA screening program for CaCu would not be achieving the desired impact. There is a need to strengthen strategies and interventions in primary care to improve screening behaviors and rates.

PMID:38907967

Medicina (B Aires). 2024;84(3):496-504.

ABSTRACT

INTRODUCTION: The aim of this study was to evaluate the adverse effects and immune response associated with IgG anti S1 SAEA-CoV-2 antibodies among healthcare workers at Señor del Milagro Hospital in Salta city, after receiving two doses of COVID-19 vaccine.

METHODS: A prospective cohort study was carried out from March 2021 to April 2022. Demographic, clinical data, adverse events supposedly attributed to vaccination (AEFIs) were collected and two samples were taken to measure serum antibody levels.

RESULTS: 408 volunteers participated, 401 (98%) were vaccinated with Sputnik-V. The average age was 45.5 years with a predominance of the female sex (71%). AEFIs were reported in 188 (46.1%) and 121 (29.7%) after the first and second doses respectively (p<0.001). These events were mostly mild and transient, more frequent after the first dose. The first antibody test was positive in 99% with a mean titer of 9.7 (SD 3.7). The second dosage was positive in 88% with a mean titer of 6.4 (SD 4.4). Participants with a history of infection and previous positive testing showed significantly higher antibody titers (p<0.001).

CONCLUSION: The AEFIs reported were mostly mild and transient. Mass vaccination and administration of the recommended dose are essential to achieve effective herd immunity. The majority of vaccinated healthcare workers developed antibodies and those who had the disease prior to vaccination had significant antibody titers.

PMID:38907964

Medicina (B Aires). 2024;84(3):487-495.

ABSTRACT

INTRODUCTION: Older adults with advanced chronic diseases and palliative care needs are more exposed to polypharmacy and use of potentially inappropriate medication, which generates a high risk of adverse events and impaired quality of life. The objective of this study was to describe the frequency of potentially inappropriate medication use among older adults with palliative care needs receiving home care services after hospital discharge.

METHODS: Observational cross-sectional study of pharmacy dispensing and electronic health records, of older adults in a home care system and with palliative care needs according to the screening with the NECPAL tool or the PROFUND and/or PALIAR indexes. Dispensed medications during 180 days after admission to home care were analyzed. Medications were classified as potentially inappropriate according to the LESS-CHRON criteria.

RESULTS: We included 176 patients, mean age 87.4 years, 67% were women; 73% were pluripathologic patients and 22% had one chronic progressive disease. Mortality at 6 months was 73%. Median frequency of dispensed medications per patient was 9.1 (IQR = 4-9.7). The frequency of potentially inappropriate medication dispensation among patients was 87%, mainly antihypertensives, benzodiazepines and antipsychotics.

CONCLUSION: This study observed that dispensation of potentially inappropriate medication among older adults with palliative care needs and home care services is very high. This emphasizes the need for effective patient-centered interventions to prevent inadequate prescription and stimulate de-prescription.

PMID:38907963

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