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Journal of Clinical Neurology (Seoul,... Jul 2024Migraine is a condition that is often observed to run in families, but its complex genetic background remains unclear. This study aimed to identify the genetic factors...
BACKGROUND AND PURPOSE
Migraine is a condition that is often observed to run in families, but its complex genetic background remains unclear. This study aimed to identify the genetic factors influencing migraines and their potential association with the family medical history.
METHODS
We performed a comprehensive genome-wide association study of a cohort of 1,561 outpatients with migraine and 473 individuals without migraine in Taiwan, including Han Chinese individuals with or without a family history of migraine. By analyzing the detailed headache history of the patients and their relatives we aimed to isolate potential genetic markers associated with migraine while considering factors such as sex, episodic vs. chronic migraine, and the presence of aura.
RESULTS
We revealed novel genetic risk loci, including rs2287637 in DEAD-Box helicase 1 and long intergenic non-protein coding RNA 1804 and rs12055943 in engulfment and cell motility 1, that were correlated with the family history of migraine. We also found a genetic location downstream of mesoderm posterior BHLH transcription factor 2 associated with episodic migraine, whereas loci within the ubiquitin-specific peptidase 26 exonic region, dual specificity phosphatase 9 and pregnancy-upregulated non-ubiquitous CaM kinase intergenic regions, and poly (ADP-ribose) polymerase 1 and were linked to chronic migraine. We additionally identified genetic regionsassociated with the presence or absence of aura. A locus between and urocortin 3 was predominantly observed in female patients. Moreover, three different single-nucleotide polymorphisms were associated with the family history of migraine in the control group.
CONCLUSIONS
This study has identified new genetic locations associated with migraine and its family history in a Han Chinese population, reinforcing the genetic background of migraine. The findings point to potential candidate genes that should be investigated further.
PubMed: 38951977
DOI: 10.3988/jcn.2023.0331 -
Tropical Medicine and Health Jul 2024Diabetes is more apparent in adulthood but may be dormant in childhood and originates during early fetal development. In fetal biometry, femur length (FL) is crucial for...
BACKGROUND
Diabetes is more apparent in adulthood but may be dormant in childhood and originates during early fetal development. In fetal biometry, femur length (FL) is crucial for assessing fetal growth and development. This study aimed to assess potential associations between fetal femur growth and prediabetic biomarkers in Bangladeshi children.
METHODS
A cohort study embedded in a population-based maternal food and micronutrient supplementation (MINIMat) trial was conducted in Matlab, Bangladesh. The children in the cohort were followed up until 15 years of age. In the original trial, pregnancy was confirmed by ultrasound before 13 gestational weeks (GWs). Afterward, ultrasound assessments were performed at 14, 19, and 30 GWs. FL was measured from one end to the other, capturing a complete femoral image. The FL was standardized by GW, and a z-score was calculated. FBG and HbA1c levels were determined in plasma and whole blood, and the triglyceride-glucose index, a biomarker of insulin resistance, was calculated as Ln [fasting triglycerides (mg/dl) × fasting glucose (mg/dl)/2]. Multivariable linear regression analysis using a generalized linear model was performed to estimate the effects of FL at 14, 19 and 30 GWs on prediabetic biomarkers at 9 and 15 years of age. Maternal micronutrient and food supplementation group, parity, child sex, and BMI at 9 years or 15 years were included as covariates.
RESULTS
A total of 1.2% (6/515) of the participants had impaired fasting glucose during preadolescence, which increased to 3.5% (15/433) during adolescence. At 9 years, 6.3% (32/508) of the participants had elevated HbA1c%, which increased to 28% (120/431) at 15 years. Additionally, the TyG index increased from 9.5% (49/515) (during preadolescence) to 13% (56/433) (during adolescence). A one standard deviation decrease in FL at 14 and 19 GWs was associated with increased FBG (β = - 0.44 [- 0.88, - 0.004], P = 0.048; β = - 0.59 [- 1.12, - 0.05], P = 0.031) and HbA1c (β = - 0.01; [- 0.03, -0.005], P = 0.007; β = - 0.01 [- 0.03, - 0.003], P = 0.018) levels at 15 years. FL was not associated with diabetic biomarkers at 9 years.
CONCLUSION
Mid-trimester impaired femur growth may be associated with elevated prediabetic biomarkers in Bangladeshi adolescents.
PubMed: 38951934
DOI: 10.1186/s41182-024-00611-6 -
Animal Science Journal = Nihon Chikusan... 2024We predicted the energy balance of cows from milk traits and estimated the genetic correlations of predicted energy balance (PEB) with fertility traits for the first...
We predicted the energy balance of cows from milk traits and estimated the genetic correlations of predicted energy balance (PEB) with fertility traits for the first three lactations. Data included 9,646,606 test-day records of 576,555 Holstein cows in Japan from 2015 to 2019. Genetic parameters were estimated with a multiple-trait model in which the records among lactation stages and parities were treated as separate traits. Fertility traits were conception rate at first insemination (CR), number of inseminations (NI), and days open (DO). Heritability estimates of PEB were 0.28-0.35 (first lactation), 0.15-0.29 (second), and 0.09-0.23 (third). Estimated genetic correlations among lactation stages were 0.85-1.00 (first lactation), 0.73-1.00 (second), and 0.64-1.00 (third). Estimated genetic correlations among parities were 0.82-0.96 (between first and second), 0.97-0.99 (second and third), and 0.69-0.92 (first and third). Estimated genetic correlations of PEB in early lactation with fertility were 0.04 to 0.19 for CR, -0.03 to -0.19 for NI, and -0.01 to -0.24 for DO. Genetic improvement of PEB is possible. Lower PEB in early lactation was associated with worse fertility, suggesting that improving PEB in early lactation may improve reproductive performance.
Topics: Animals; Fertility; Female; Lactation; Energy Metabolism; Cattle; Milk; Japan; Quantitative Trait, Heritable; Fertilization; East Asian People
PubMed: 38951923
DOI: 10.1111/asj.13968 -
BMC Public Health Jun 2024The sudden introduction of social distancing measures in response to the COVID-19 pandemic resulted in significant lifestyle changes for the UK population. People living...
The impact of UK social distancing guidance on the ability to access support and the health and wellbeing of disabled people during the COVID-19 pandemic: a qualitative exploration.
BACKGROUND
The sudden introduction of social distancing measures in response to the COVID-19 pandemic resulted in significant lifestyle changes for the UK population. People living with physical disabilities were deemed to be at greater risk of complications following COVID-19 infection and were subjected to stricter social distancing guidelines. But gaps remain in our understanding of how the COVID-19 pandemic and associated restrictions affected the ability to access support, health and wellbeing of people with physical disabilities. Such understanding is vital to ensure equitable future pandemic preparedness for people living with physical disabilities.
METHODS
We conducted qualitative semi-structured interviews with 31 people living in the UK between May 2020 and January 2022. All participants self-identified as having a physical disability that affected their mobility, sight, or hearing. We analysed the data using reflexive thematic analysis.
RESULTS
Six themes were identified that described the impact of the pandemic on ability to access support, health and wellbeing: (i) adaptations to healthcare provision led to difficulties in managing health and wellbeing; (ii) exacerbations of inequalities in access to public space due to social distancing guidelines; (iii) experiences of hostility from able-bodied people; (iv) loss of social lives and encounters; (v) difficulties maintaining distance from others and subsequent fear of infection and (vi) strategies to support wellbeing and coping when confined to the home.
CONCLUSION
The COVID-19 pandemic exacerbated existing health and social inequalities experienced by disabled people. The disproportionate impact of the pandemic on service provision and social connections resulted in challenging circumstances for disabled people who faced unmet medical needs, deteriorating health, and at times, hostile public spaces. Disabled people's experiences need to be incorporated into future pandemic or health-related emergency planning to ensure equality of access to services and public spaces to ensure their health and wellbeing is supported and maintained.
Topics: Humans; COVID-19; Disabled Persons; United Kingdom; Female; Male; Qualitative Research; Adult; Middle Aged; Physical Distancing; Aged; Health Services Accessibility; Pandemics; Young Adult; Interviews as Topic
PubMed: 38951865
DOI: 10.1186/s12889-024-19285-0 -
Diabetes, Obesity & Metabolism Jul 2024To assess if early change in albuminuria was linked to an initial change in estimated glomerular filtration rate (eGFR) and long-term kidney outcomes in people with type...
Early reduction in albuminuria is associated with a steeper 'dip' in initial estimated glomerular filtration rate but favourable long-term kidney outcomes in people with diabetes receiving sodium-glucose cotransporter-2 inhibitors.
AIM
To assess if early change in albuminuria was linked to an initial change in estimated glomerular filtration rate (eGFR) and long-term kidney outcomes in people with type 2 diabetes (T2D) receiving sodium-glucose cotransporter-2 (SGLT2) inhibitors.
METHODS
Using a medical database from a multicentre healthcare institute in Taiwan, we retrospectively enrolled 8310 people receiving SGLT2 inhibitors from 1 June 2016 to 31 December 2021. We compared the risks of initial eGFR decline, major adverse renal events (MARE; >50% eGFR reduction or development of end-stage kidney disease), major adverse cardiovascular events (MACE), or hospitalization for heart failure (HHF) using a Cox proportional hazards model.
RESULTS
In all, 36.8% (n = 3062) experienced a >30% decrease, 21.0% (n = 1743) experienced a 0%-30% decrease, 14.4% (n = 1199) experienced a 0%-30% increase, and 27.7% (n = 2306) experienced a >30% increase in urine albumin-to-creatine ratio (UACR) after 3 months of SGLT2 inhibitor treatment. Greater acute eGFR decline at 3 months correlated with greater UACR reduction: -3.6 ± 10.9, -2.0 ± 9.5, -1.1 ± 8.6, and -0.3 ± 9.7 mL/min/1.73 m for the respective UACR change groups (p < 0.001). Over a median of 29.0 months, >30% UACR decline was associated with a higher risk of >30% initial eGFR decline (hazard ratio [HR] 2.68, 95% confidence interval [CI] 1.61-4.47]), a lower risk of MARE (HR 0.66, 95% CI 0.48-0.89), and a comparable risk of MACE or HHF after multivariate adjustment (p < 0.05). The nonlinear analysis showed early UACR decline was linked to a lower risk of MARE but a higher risk of initial steep eGFR decline of >30%.
CONCLUSION
Physicians should be vigilant for the potential adverse effects of abrupt eGFR dipping associated with a profound reduction in UACR, despite the favourable long-term kidney outcomes in the population with T2D receiving SGLT2 inhibitor treatment.
PubMed: 38951860
DOI: 10.1111/dom.15734 -
BMC Public Health Jun 2024Research indicates that COVID-19 has had adverse effects on the mental health of adolescents, exacerbating their negative psychological states. The purpose of this study...
Research indicates that COVID-19 has had adverse effects on the mental health of adolescents, exacerbating their negative psychological states. The purpose of this study is to investigate the impact of Physical Literacy (PL) on Negative Mental State caused by COVID-19 (NMSC) and identify potential factors related to NMSC and PL in Chinese adolescents. This cross-sectional study involved a total of 729 Chinese high school students with an average age of 16.2 ± 1.1 years. Participants' demographic data, PL data, and NMSC data were collected. PL and NMSC were measured using the self-reported Portuguese Physical Literacy Assessment Questionnaire (PPLA-Q), the Stress and Anxiety to Viral Epidemics-6 (SAVE-6), and the Fear of COVID-19 Scale (FCV-19). Adolescents in the current study demonstrated higher levels of NMSC and lower PL, with average scores of 3.45 and 2.26, respectively (on a scale of 5). Through multiple linear regression analysis, Motivation (MO), Confidence (CO), Emotional Regulation (ER), and Physical Regulation (PR) were identified as factors influencing NMSC in adolescents. The study findings contribute to providing guidance for actions aimed at alleviating NMSC among adolescents.
Topics: Humans; COVID-19; Adolescent; Male; Female; Cross-Sectional Studies; China; Resilience, Psychological; Mental Health; Surveys and Questionnaires; Health Literacy; East Asian People
PubMed: 38951834
DOI: 10.1186/s12889-024-18842-x -
BMC Public Health Jun 2024Health literacy is the degree to which individuals have the ability to find, understand, and use information and services to inform health-related decisions and actions...
BACKGROUND
Health literacy is the degree to which individuals have the ability to find, understand, and use information and services to inform health-related decisions and actions for themselves and others, whether at home, at the workplace, in the community, marketplace, healthcare sector, or the political arena. The main aim of this project is to measure health literacy in the adult population living in the municipality of Leiria over the next 10 years. As secondary objectives it is intended to characterize anxiety and depression, metabolic risk and health behaviors in the same population and over the same period.
METHODS
This is a prospective cohort study that collects data on HL, anxiety and depression, health characteristics, health behavior and sociodemographic data. The study population will be composed by adults (≥ 18 years old) who are non-institutionalized and living in private households in Leiria. The random sample is stratified by gender and age groups. A face-to-face interview will be conducted with the Computer Assisted Personal Interview at baseline. Follow-up will be carried out every 2 years via telephone call. The association between independent variables and health literacy is examined by means of variance analysis with measurement repetition, and taking into consideration follow-up.
DISCUSSION
The LiSa project is a population-based study, derived from a random sampling technique that will allow the analysis of health outcomes in a representative sample of the population of the municipality of Leiria. The LiSa study will be a valuable resource for epidemiological research, as it will provide fundamental information to improve public health policies regarding health literacy in Portugal.
TRIAL REGISTRATION
Clinical trials: NCT05558631 (registered on 26/09/2022).
Topics: Humans; Health Literacy; Adult; Prospective Studies; Male; Female; Middle Aged; Portugal; Health Behavior; Depression; Aged; Young Adult; Anxiety; Cohort Studies; Adolescent; Research Design
PubMed: 38951815
DOI: 10.1186/s12889-024-19148-8 -
Cardiovascular Diabetology Jun 2024The atherogenic index of plasma (AIP) is closely associated with the onset of diabetes, with obesity being a significant risk factor for type 2 diabetes mellitus (T2DM)....
BACKGROUND
The atherogenic index of plasma (AIP) is closely associated with the onset of diabetes, with obesity being a significant risk factor for type 2 diabetes mellitus (T2DM). However, the association between the AIP and T2DM in overweight and obese populations has been infrequently studied. Therefore, this study aimed to explore this association in overweight and obese individuals with T2DM.
METHODS
This cross-sectional analysis utilized data from 40,633 participants with a body mass index (BMI) ≥ 24 kg/m who were screened from January 2018 to December 2023 at Henan Provincial People's Hospital. Participants were categorized into groups of overweight and obese individuals with and without diabetes according to the T2DM criteria. The AIP, our dependent variable, was calculated using the formula log10 [(TG mol/L)/HDL-C (mol/L)]. We investigated the association between the AIP and T2DM in overweight and obese individuals using multivariate logistic regression, subgroup analysis, generalized additive models, smoothed curve fitting, and threshold effect analysis. Additionally, mediation analysis evaluated the role of inflammatory cells in AIP-related T2DM.
RESULTS
Overweight and obese patients with T2DM exhibited higher AIP levels than those without diabetes. After adjusting for confounders, our results indicated a significant association between the AIP and the risk of T2DM in overweight and obese individuals (odds ratio (OR) = 5.17, 95% confidence interval (CI) 4.69-5.69). Notably, participants with a high baseline AIP (Q4 group) had a significantly greater risk of T2DM than those in the Q1 group, with an OR of 3.18 (95% CI 2.94-3.45). Subgroup analysis revealed that the association between the AIP and T2DM decreased with increasing age (interaction P < 0.001). In overweight and obese populations, the association between AIP and T2DM risk displayed a J-shaped nonlinear pattern, with AIP > - 0.07 indicating a significant increase in T2DM risk. Various inflammatory cells, including neutrophils, leukocytes, and monocytes, mediated 4.66%, 4.16%, and 1.93% of the associations, respectively.
CONCLUSION
In overweight and obese individuals, the AIP was independently associated with T2DM, exhibiting a nonlinear association. Additionally, the association between the AIP and T2DM decreased with advancing age. Multiple types of inflammatory cells mediate this association.
Topics: Humans; Diabetes Mellitus, Type 2; Middle Aged; Male; Female; Cross-Sectional Studies; Obesity; Risk Factors; China; Risk Assessment; Biomarkers; Adult; Aged; Body Mass Index; Atherosclerosis; Triglycerides; Overweight; Cholesterol, HDL; Prognosis; East Asian People
PubMed: 38951808
DOI: 10.1186/s12933-024-02330-y -
BMC Genomics Jun 2024Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 300,000 people worldwide. It is characterized by the progressive decline of the nervous...
BACKGROUND
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 300,000 people worldwide. It is characterized by the progressive decline of the nervous system that leads to the weakening of muscles which impacts physical function. Approximately, 15% of individuals diagnosed with ALS have a known genetic variant that contributes to their disease. As therapies that slow or prevent symptoms continue to develop, such as antisense oligonucleotides, it is important to discover novel genes that could be targets for treatment. Additionally, as cohorts continue to grow, performing analyses in ALS subtypes, such as primary lateral sclerosis (PLS), becomes possible due to an increase in power. These analyses could highlight novel pathways in disease manifestation.
METHODS
Building on our previous discoveries using rare variant association analyses, we conducted rare variant burden testing on a substantially larger multi-ethnic cohort of 6,970 ALS patients, 166 PLS patients, and 22,524 controls. We used intolerant domain percentiles based on sub-region Residual Variation Intolerance Score (subRVIS) that have been described previously in conjunction with gene based collapsing approaches to conduct burden testing to identify genes that associate with ALS and PLS.
RESULTS
A gene based collapsing model showed significant associations with SOD1, TARDBP, and TBK1 (OR = 19.18, p = 3.67 × 10; OR = 4.73, p = 2 × 10; OR = 2.3, p = 7.49 × 10, respectively). These genes have been previously associated with ALS. Additionally, a significant novel control enriched gene, ALKBH3 (p = 4.88 × 10), was protective for ALS in this model. An intolerant domain-based collapsing model showed a significant improvement in identifying regions in TARDBP that associated with ALS (OR = 10.08, p = 3.62 × 10). Our PLS protein truncating variant collapsing analysis demonstrated significant case enrichment in ANTXR2 (p = 8.38 × 10).
CONCLUSIONS
In a large multi-ethnic cohort of 6,970 ALS patients, collapsing analyses validated known ALS genes and identified a novel potentially protective gene, ALKBH3. A first-ever analysis in 166 patients with PLS found a candidate association with loss-of-function mutations in ANTXR2.
Topics: Amyotrophic Lateral Sclerosis; Humans; Genetic Predisposition to Disease; Male; Female; Ethnicity; Genetic Variation
PubMed: 38951798
DOI: 10.1186/s12864-024-10538-1 -
BMC Pregnancy and Childbirth Jun 2024An individualized education using visual aids, allowing the woman to demonstrate what she has learned, and providing the opportunity for the woman to ask questions are... (Randomized Controlled Trial)
Randomized Controlled Trial
The effect of breastfeeding education given through the teach-back method on mothers' breastfeeding self-efficacy and breastfeeding success: a randomized controlled study.
BACKGROUND
An individualized education using visual aids, allowing the woman to demonstrate what she has learned, and providing the opportunity for the woman to ask questions are important in terms of breastfeeding self-efficacy, breastfeeding success, and the sustainability of the education. This study is original in evaluating the effectiveness and sustainability of breastfeeding education provided through the teach-back method in terms of breastfeeding self-efficacy and success in a short period of time. Therefore, the aim of this study is to examine the impact of teach-back method on mothers' breastfeeding self-efficacy and breastfeeding success.
MATERIALS AND METHODS
This is a randomized controlled study. The population of this study consisted of women who gave birth in the obstetrics and gynecology department of a state hospital located in Çorlu, in the northwest region of Turkey, between March 2022 and August 2022. The sample of this study consisted of a total of 100 postpartum women, with 50 participants in the experimental group and 50 participants in the control group, who gave birth in the obstetrics and gynecology department of Çorlu State Hospital. Computer-assisted simple randomization was employed to ensure the homogeneous distribution of the women into the experimental and control groups. The women in the experimental group received education and counseling services using the Teach-Back Method, based on the content of the prepared Breastfeeding Education Guide. The control group mothers, on the other hand, received standard breastfeeding education and counseling services. The data were collected through face-to-face interviews during the first 24 h postpartum and at the 1-month follow-up visits. In the study, the data collection tools used were a Personal Information Form, LATCH Breastfeeding Assessment and Evaluation Scale, Postpartum Breastfeeding Self-Efficacy Scale (short form), and the Teach-Back Observation Tool. In the evaluation of the research findings, the SPSS (Statistical Package for the Social Sciences) version 25.0 (IBM Corp., Armonk, NY, USA) program was used for statistical analyses. Descriptive, graphical, and statistical methods were employed to examine whether the scores obtained from each continuous variable followed a normal distribution. The Kolmogorov-Smirnov test was used to assess the normality of the scores derived from a continuous variable using statistical methods.
RESULTS
In the study, no significant difference was found in the distribution of the socio-demographic characteristics of the participants according to the study groups. In the experimental group, which received training with the tell-what-you-learned method, the mothers' average EÖYÖ scores before the training, at the 24th hour after the training and at the 1st month after the training were 46.41 ± 11.26, respectively; It was determined to be 66.23 ± 6.94 and 67.84 ± 6.27. In the measurements made during the follow-up, it was determined that there was a significant difference in the study group's EÖYÖ score averages (p < 0,001). For mothers in the experimental group, the average LATCH score of the mothers before training, 24 h after training and 1 month after training was 7.73 ± 1.81, respectively; It was determined that these values were 8.66 ± 1.61 and 9.95 ± 0.30, and there was a significant difference in the mean LATCH scores of the study group in the measurements made during the follow-up (p < 0.001).
CONCLUSIONS
Breastfeeding education provided through the teach-back method is more effective in increasing both breastfeeding success and breastfeeding self-efficacy when compared to standard breastfeeding education.
TRIAL REGISTRATION
Iran Randomized Clinical Trial Center IRCT20220509054795N2 Date of first registration: 10/11/2022.
Topics: Humans; Breast Feeding; Female; Self Efficacy; Adult; Mothers; Turkey; Patient Education as Topic; Young Adult
PubMed: 38951771
DOI: 10.1186/s12884-024-06601-0