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Oxford Medical Case Reports May 2024We report the case of a 5-year-old boy diagnosed with congenital adrenal hyperplasia due to 11-hydroxylase deficiency, revealed by disorders of sex development (DSD) and...
We report the case of a 5-year-old boy diagnosed with congenital adrenal hyperplasia due to 11-hydroxylase deficiency, revealed by disorders of sex development (DSD) and acute pulmonary edema due to severe hypertension. We considered the diagnosis based on biological and radiological examinations. The sociocultural background and the delayed diagnosis had a significant impact on the therapeutic decisions. All babies should be screened for 11 beta-hydroxylase deficiency, there should be specialized and interdisciplinary medical centers, and early detection is essential to avoiding serious complications of this disease.
PubMed: 38784773
DOI: 10.1093/omcr/omae042 -
Cureus May 2024Background The hepatoprotective function of polyherbal formulation Liv.52 in chronic liver diseases is well recognized in published literature. The objective of this...
Background The hepatoprotective function of polyherbal formulation Liv.52 in chronic liver diseases is well recognized in published literature. The objective of this open-label, phase IV study was to further strengthen and validate its safety and effectiveness using a large patient pool in a real-world scenario and provide scientific data on symptomatic improvement and supportive treatment in liver function with improvement in quality of life. Methods Adult patients of either sex with one or more clinical symptoms like fatigue, nausea, anorexia, abdominal pain or discomfort, muscle cramps, jaundice, or any other signs and symptoms with a history suggestive of mild-to-moderate hepatic disorders like alcoholic liver disease (ALD), non-alcoholic fatty liver disease (NAFLD), drug-induced hepatotoxicity, or hepatitis were treated with two Liv.52 DS tablets (oral) twice daily for 12 weeks. Results Out of the 1000 enrolled patients, 962 (96%) completed the study with the following subgroups ALD: 375 (38.9%), NAFLD: 379 (39.3%), drug-induced hepatotoxicity: 78 (8.1%), hepatitis: 130 (13.5%). The mean age of enrolled patients was 37.7 years, and the majority of them, 785 (78.5%) were men. The common adverse events observed (with >1.5% incidence) in the study were abdominal pain: 26 (2.6%) and headache: 17 (1.7%). Liv.52 showed statistically significant improvement (P<0.0001) in various clinical signs and symptoms in the majority of patients namely, fatigue: 357/723 (49%), anorexia: 485/620 (78.2%), jaundice: 48/52 (92%). Majority of the patients showed significant improvements from baseline to end of 12 weeks in the liver function test parameters namely, aspartate aminotransferase: 633/840 (75.36%), alanine aminotransferase: 592/729 (81.21%), serum bilirubin: 244/347 (70.32%), alkaline phosphatase: 279/355 (78.59%) with P<0.0001 for all parameters. Statistically significant improvement (P<0.005) was also seen in all the components of the chronic liver disease questionnaire (CLDQ) scores from baseline to 12 weeks. Conclusions The study demonstrated that Liv.52 was hepatoprotective and well tolerated in the study population after treatment for 12 weeks. Significant improvements were seen in clinical signs and symptoms, laboratory parameters of liver function, and CLDQ scores from baseline to 12 weeks. No significant or new safety signals emerged from this study.
PubMed: 38784689
DOI: 10.7759/cureus.60898 -
BMC Public Health May 2024The goal of epilepsy treatment is not only to control convulsive seizures but also to improve the quality of life of patients. This study aimed to investigate...
OBJECTIVE
The goal of epilepsy treatment is not only to control convulsive seizures but also to improve the quality of life of patients. This study aimed to investigate personality changes and the risk factors for their development in adult epilepsy patients.
METHODS
A case-control study in a Class III, Class A hospital. The study comprised 206 adult epilepsy patients admitted to the Neurology Department at the First Hospital of Jilin University between October 2019 and December 2021, while the control group consisted of 154 community volunteers matched with the epilepsy group based on age, sex, and education. No additional treatment interventions were determined to be relevant in the context of this study.
RESULTS
There is a significantly higher incidence of personality changes in epilepsy than in the general population, and patients with epilepsy were more likely to become psychoticism, neuroticism, and lie. Epilepsy patient's employment rate and average quality of life score were significantly lower than that of the general population and had strong family intimacy but poor adaptability in this study. There are many factors affecting personality change: sleep disorders, economic status, quality of life, use of anti-seizure drugs, family cohesion and adaptability. The independent risk factors were quality of life and family cohesion.
Topics: Humans; Quality of Life; Male; Case-Control Studies; Female; Adult; Epilepsy; Middle Aged; Risk Factors; Family Relations; Personality; China; Young Adult; Personality Disorders
PubMed: 38783259
DOI: 10.1186/s12889-024-18861-8 -
JCI Insight May 2024Prenatal exposure to viral pathogens has been known to cause the development of neuropsychiatric disorders in adulthood. Furthermore, COVID-19 has been associated with a...
Prenatal exposure to viral pathogens has been known to cause the development of neuropsychiatric disorders in adulthood. Furthermore, COVID-19 has been associated with a variety of neurological manifestations, raising the question of whether in utero SARS-CoV-2 exposure can affect neurodevelopment, resulting in long-lasting behavioral and cognitive deficits. Using a human ACE-2-knock-in mouse model, we have previously shown that prenatal exposure to SARS-CoV-2 at later stages of development leads to fetal brain infection and gliosis in the hippocampus and cortex. In this study, we aimed to determine if infection of the fetal brain results in long-term neuroanatomical alterations of the cortex and hippocampus, as well as any cognitive deficits in adulthood. Here, we show that infected mice developed slower and weighed less in adulthood. We also found altered hippocampal and amygdala volume and aberrant newborn neuron morphology in the hippocampus of adult mice infected in utero. Furthermore, we observed sex-dependent alterations in anxiety-like behavior and locomotion, as well as hippocampal-dependent spatial memory. Taken together, our study revealed long-lasting neurological and cognitive changes as a result of prenatal SARS-CoV-2 infection, identifying a window for early intervention and highlighting the importance of immunization and antiviral intervention in pregnant women.
PubMed: 38781563
DOI: 10.1172/jci.insight.179068 -
Journal of Global Health May 2024Studies have shown that the disease burden of anaemia varies globally, yet they have not yet determined its exact extent in East Asian countries specifically. We thus...
The temporal trends of prevalence and years lived with disability of anaemia in China, Japan, and South Korea, from 1990 to 2021: Results from the Global Burden of Disease Study 2021.
BACKGROUND
Studies have shown that the disease burden of anaemia varies globally, yet they have not yet determined its exact extent in East Asian countries specifically. We thus aimed to investigate the prevalence and years lived with disability (YLDs) due to anaemia from 1990 to 2021 in China, Japan, and South Korea.
METHODS
We extracted the prevalence and YLDs with their age-standardised rates (ASRs) in China, Japan, and South Korea from the Global Burden of Disease Study 2021, stratified by sex, age, and causes. We then examined the temporal trend of anaemia burden from 1990 to 2021 using joinpoint analysis and the association of anaemia burden with the Human Development Index and Universal Health Index through Spearman's correlation analysis.
RESULTS
In 2021, anaemia affected 136 million people in China (95% uncertainty interval (UI) = 131, 141), with ASRs of prevalence of 8.9% (95% UI = 8.6, 9.3), and accounted for 3.0 million YLDs (95% UI = 2.0, 4.4). It affected 13.6 million people in Japan (95% UI = 11.8, 16.0), with ASRs of prevalence of 7.4% (95% UI = 6.1, 9.0), and caused 181 thousand YLDs (95% UI = 108, 282). It also affected 2.7 million individuals in South Korea (95% UI = 2.4, 3.0), with ASRs of prevalence of 5.2% (95% UI = 4.6, 5.7), and led to 34 thousand YLDs (95% UI = 22, 55). We observed a significant gender discrepancy in the anaemia burden in these three countries, with the prevalence and YLD rates in women being almost twice as high as those in men. Moreover, the peak age of the anaemia burden shifted toward higher age groups in all three countries, particularly in Japan. Chronic kidney disease was responsible for a growing share of anaemia cases and YLDs, especially in adults aged more than 60 years in Japan and South Korea. Haemoglobinopathies were another noticeable cause of anaemia in China, though dietary iron deficiency remained the leading cause. Both socioeconomic development and essential health service coverage showed negative associations with the anaemia burden in the three countries in the past three decades, though with differential patterns.
CONCLUSIONS
Anaemia remains a major public health issue in China, Japan, and South Korea; targeted surveillance and interventions are recommended for high-risk populations and cause-specific anaemia.
Topics: Humans; Anemia; Prevalence; Male; Female; Global Burden of Disease; Republic of Korea; China; Middle Aged; Adult; Aged; Japan; Young Adult; Adolescent; Infant; Disabled Persons; Child, Preschool; Child; Aged, 80 and over; Disability-Adjusted Life Years; Infant, Newborn
PubMed: 38779874
DOI: 10.7189/jogh.14.04073 -
Journal of Applied Physiology... May 2024The complex compositional and functional nature of skeletal muscle makes this organ an essential topic of study for biomedical researchers and clinicians. An additional... (Review)
Review
The complex compositional and functional nature of skeletal muscle makes this organ an essential topic of study for biomedical researchers and clinicians. An additional layer of complexity is added with the consideration of sex as a biological variable. Recent research advances have revealed sexual dimorphisms in developmental biology, muscle homeostasis, adaptive responses, and disorders relating to skeletal muscle. Many of the observed sex differences have hormonal and molecular mechanistic underpinnings, while others have yet to be elucidated. Future research is needed to investigate the mechanisms dictating sex-based differences in the various aspects of skeletal muscle. As such, it is necessary that skeletal muscle biologists ensure that both female and male subjects are represented in biomedical and clinical studies to facilitate the successful testing and development of therapeutics for all patients.
PubMed: 38779763
DOI: 10.1152/japplphysiol.00529.2023 -
Indian Journal of Psychiatry Apr 2024Common mental disorders (CMDs) among adolescents may hamper their psycho-social development.
BACKGROUND
Common mental disorders (CMDs) among adolescents may hamper their psycho-social development.
AIM
This study evaluated the prevalence and determinants of CMD like depression and anxiety among late adolescents of an age of 15--19 years residing in an urban resettlement colony of southeast Delhi.
METHODS
A community-based cross-sectional study was carried out among 556 randomly selected adolescents. CMD was assessed using Mini International Neuropsychiatry Interview - Kid version 6 (MINI-Kid) based on DSM-IV TR and compliant with ICD-10 definitions of CMD. The associated risk factors were studied using a self-developed semi-structured interview schedule and analyzed using multi-variable logistic regression.
RESULTS
A total of 491 adolescents were interviewed (a response rate of 88.3%), of whom 247 (50.3%) were female and 210 (42.8%) belonged to a lower-middle socio-economic status. The lifetime prevalence of CMD was 34% [95% confidence interval (CI): 29.8-38.2]. Of the total, 22.4% (95% CI: 18.7-6.1) of the participants reported depression and 6.7% (95% CI: 4.5-8.9) reported generalized anxiety disorder during their lifetime. Female sex [adjusted odds ratio (aOR) 2.1, 95% CI: 1.4-2.2], experiencing a stressful event in the past 6 months (aOR 4.7, 95% CI: 3.1-7.3), and smoking tobacco (aOR 2.0, 95% CI: 1.2-7.4) significantly increased the odds of having CMD in multi-variate analysis.
CONCLUSION
There is a high prevalence of CMD among adolescents residing in urban resettlement colonies of Delhi, which is composed mostly of people belonging to lower socio-economic strata. Hence, tailored intervention at stress management with promotion of healthy lifestyle is needed for this age group.
PubMed: 38778841
DOI: 10.4103/indianjpsychiatry.indianjpsychiatry_728_22 -
Sex difference in nocturnal blood pressure dipping in adolescents with varying degrees of adiposity.BMC Pediatrics May 2024For adolescents, abnormal dipping patterns in blood pressure (BP) are associated with early-onset organ damage and a higher risk of cardiovascular disorders in...
BACKGROUND
For adolescents, abnormal dipping patterns in blood pressure (BP) are associated with early-onset organ damage and a higher risk of cardiovascular disorders in adulthood. Obesity is one of the most common reasons for abnormal BP dipping in young people. However, it is unknown whether the severity of obesity is associated with BP dipping status and whether this association is sex-dependent.
METHODS
499 participants between 12 and 17 years old with overweight or obesity underwent ambulatory blood pressure monitoring (ABPM) between April 2018 and January 2019 in Beijing and Baoding. Participants were grouped by body mass index (BMI) into overweight (BMI 85th-95th percentile), obese (BMI ≥ 95th percentile) and severely obese (BMI ≥ 120% of 95th percentile or ≥ 35 kg/m) groups. Non-dipping was defined as a < 10% reduction in BP from day to night. The interaction effect between sex and obesity degree was also analyzed.
RESULTS
326 boys and 173 girls were included, of whom 130 were overweight, 189 were obese, and 180 were severely obese. Girls with severe obesity had a higher prevalence of non-dipping, but boys showed no significant differences in BP dipping status between obesity categories. In addition, as obesity severity went up, a more evident increase in night-time SBP was observed in girls than in boys.
CONCLUSIONS
Severely obese is associated with a higher prevalence of non-BP dipping patterns in girls than in boys, which suggests that the relationship between the severity of obesity and BP dipping status might be sex-specific.
Topics: Humans; Female; Adolescent; Male; Blood Pressure; Blood Pressure Monitoring, Ambulatory; Sex Factors; Pediatric Obesity; Child; Circadian Rhythm; Adiposity; Overweight; Body Mass Index; China; Severity of Illness Index; Cross-Sectional Studies
PubMed: 38778302
DOI: 10.1186/s12887-024-04804-0 -
Clinical Nutrition ESPEN Jun 2024Serum retinol (ROH) is commonly used for population level assessment of vitamin A status. High-performance liquid chromatography (HPLC) is considered most accurate...
BACKGROUND & AIMS
Serum retinol (ROH) is commonly used for population level assessment of vitamin A status. High-performance liquid chromatography (HPLC) is considered most accurate method for measuring ROH. However, with the technical difficulty of using HPLC for routine assays, serum retinol-binding protein (RBP) measured by immunological assays is expected to be a surrogate marker for ROH, with reports of a close correlation between serum RBP and ROH. Nevertheless, RBP is not commonly tested to assess vitamin A status with concerns over RBP alterations under various physiopathological conditions. Thus, we reappraised the extent to which RBP could be used as a surrogate marker in representative disorders that alter serum RBP levels. As a related marker, diagnostic utility of transthyretin (TTR) was also evaluated.
METHODS
To evaluate the reliability of ROH and RBP assays, specimen stability was assessed in terms of (1) storage at 25, 4, -20, and -80 °C for 1-28 days, (2) five-cycle freeze-thawing, and (3) fluorescent light exposure for 1-14 days. Sources of variation (sex, age, body mass index [BMI], and drinking habits) and reference intervals for ROH, RBP, and TTR were determined in 617 well-defined healthy individuals. To investigate the influence of disorders that affect serum RBP, patients with five diagnostic groups were enrolled: 26 with chronic kidney disease (CKD); 13 with various malignancies in advanced stages (AdM), 12 with acute bacterial infections (ABI), 6 with liver cirrhosis (LC), and 26 with simple obesity (BMI ≥ 27 kg/m).
RESULTS
The stability of RBP and ROH in serum was confirmed under all conditions. In healthy individuals, serum ROH, RBP, and TTR were appreciably high in males with a slight increase in proportion to age and BMI. The major-axis regression line between RBP (x) and ROH (y) in healthy individuals was y = x, with a correlation coefficient of 0.986. In the LC, AdM, and ABI groups, similar strong correlations were observed; however, the regression lines were shifted slightly rightward from the healthy group line, indicating a positive bias in estimating ROH. Interestingly, the same analyses between TTR and ROH revealed similar strong linear relationships in all groups; however, the regression line of each group showed a leftward (opposite) shift from the healthy group line. Based on these observations, we developed a novel regression model composed of RBP and TTR, which gave much improved accuracy in estimating ROH, even under these pathological conditions.
CONCLUSIONS
The perfect RBP-ROH correlation in healthy individuals indicates the utility of RPB as a surrogate marker for ROH. Nevertheless, under RBP-altered conditions, a slight overestimation of ROH is inevitable. However, when the TTR was tested together, the bias can be corrected almost perfectly using the novel ROH estimation formula comprising RBP and TTR.
Topics: Humans; Biomarkers; Male; Vitamin A; Female; Middle Aged; Adult; Retinol-Binding Proteins; Prealbumin; Aged; Reproducibility of Results; Chromatography, High Pressure Liquid; Body Mass Index; Young Adult; Nutritional Status
PubMed: 38777423
DOI: 10.1016/j.clnesp.2024.03.017 -
EBioMedicine Jun 2024Understanding the impact of CYP2D6 metabolism on paroxetine, a widely used antidepressant, is essential for precision dosing. (Meta-Analysis)
Meta-Analysis
Dose adjustment of paroxetine based on CYP2D6 activity score inferred metabolizer status in Chinese Han patients with depressive or anxiety disorders: a prospective study and cross-ethnic meta-analysis.
BACKGROUND
Understanding the impact of CYP2D6 metabolism on paroxetine, a widely used antidepressant, is essential for precision dosing.
METHODS
We conducted an 8-week, multi-center, single-drug, 2-week wash period prospective cohort study in 921 Chinese Han patients with depressive or anxiety disorders (ChiCTR2000038462). We performed CYP2D6 genotyping (single nucleotide variant and copy number variant) to derive the CYP2D6 activity score and evaluated paroxetine treatment outcomes including steady-state concentration, treatment efficacy, and adverse reaction. CYP2D6 metabolizer status was categorized into poor metabolizers (PMs), intermediate metabolizers (IMs), extensive metabolizers (EMs), and ultrarapid metabolizers (UMs). The influence of CYP2D6 metabolic phenotype on paroxetine treatment outcomes was examined using multiple regression analysis and cross-ethnic meta-analysis. The therapeutic reference range of paroxetine was estimated by receiver operating characteristic (ROC) analyses.
FINDINGS
After adjusting for demographic factors, the steady-state concentrations of paroxetine in PMs, IMs, and UMs were 2.50, 1.12, and 0.39 times that of EMs, with PM and UM effects being statistically significant (multiple linear regression, P = 0.03 and P = 0.04). Sex and ethnicity influenced the comparison between IMs and EMs. Moreover, poor efficacy of paroxetine was associated with UM, and a higher risk of developing adverse reactions was associated with lower CYP2D6 activity score. Lastly, cross-ethnic meta-analysis suggested dose adjustments for PMs, IMs, EMs, and UMs in the East Asian population to be 35%, 40%, 143%, and 241% of the manufacturer's recommended dose, and 62%, 68%, 131%, and 159% in the non-East Asian population.
INTERPRETATION
Our findings advocate for precision dosing based on the CYP2D6 metabolic phenotype, with sex and ethnicity being crucial considerations in this approach.
FUNDING
National Natural Science Foundation of China; Academy of Medical Sciences Research Unit.
Topics: Adult; Female; Humans; Male; Middle Aged; Anxiety Disorders; China; Cytochrome P-450 CYP2D6; Depressive Disorder; East Asian People; Genotype; Paroxetine; Polymorphism, Single Nucleotide; Prospective Studies; Treatment Outcome
PubMed: 38776596
DOI: 10.1016/j.ebiom.2024.105165