Population-based Data Research Articles

Association Between Dynamic Viral Rebound and Longitudinal Measures of Viral Load/CD4 Counts Among People with HIV in South Carolina.

Monitoring HIV viral rebound (VR) is crucial, as it indicates an increased risk of infection, transmission, disease progression, and drug resistance. This study aims to identify the association between dynamic VR and historical viral load (VL)/CD4 count measures. A 15-year South Carolina population-based electronic health record data were used for the study. VR was defined as the return of detectable levels of VL (>200 copies/mL) after stable viral suppression (VS) (two consecutive VS, i.e., VL ≤200 copies/mL). A generalized linear mixed model was used to evaluate the association between dynamic VR and historical time-dependent predictors, such as nadir CD4 count and comorbidities, within a year prior to each VR. Subgroup analysis for men who have sex with men (MSM) was also conducted. Among 8,185 people with HIV (PWH), 1,173 (14.3%) had a history of VR. Lower nadir CD4 count (≥500 vs. <200 cells/μL; adjusted odds ratio [aOR]: 0.51, 95% confidence interval [CI]: [0.43, 0.60]), younger age (>60 years old vs. 18-30 years old; aOR: 0.43, 95% CI: [0.29, 0.63]), and being Black (Black vs. White; aOR: 1.58, 95% CI: [1.34, 1.85]) were associated with a higher risk of VR, while MSM (MSM vs. heterosexual; aOR: 0.81, 95% CI: [0.67, 0.96]) were associated with decreased VR risk. The rate of VR among PWH in South Carolina is significant. Within-1-year VL/CD4 test is critical for identifying PWH at risk for VR. Tailored interventions are needed for PWH at risk for VR to achieve sustained suppression and better health outcomes.

The Prevalence of Obesity is Increased in Adolescents with Amblyopia: An Analysis of National Health and Nutrition Examination Survey Data.

Background: Amblyopia is the most common cause of vision loss in children. Amblyopia has been associated with impaired depth perception but little attention has been paid to the extent to which amblyopia increases the risk of obesity. Methods: Public-use data from the 1999-2008 National Health and Nutrition Examination Survey were used. Analyses were limited to children aged 12-18, who had a visual examination, and a best corrected visual acuity (BCVA) of at least 20/40 in the better-seeing eye. Amblyopia was defined as two or more-line interocular difference in BCVA. Obesity was defined as Body Mass Index (BMI) or body fat percentage (BFP) ≥95th percentile for age and gender. Sedentary lifestyle was defined as cardiovascular fitness level (CFL) rating of "low." We used Mantel-Haenszel odds ratios (ORs) to examine the relative prevalence of obesity in children with/without amblyopia. Results: Adolescents with amblyopia (n = 360) were more likely than those without (n = 7935) to have a high BMI [OR = 1.56; 95% confidence interval (CI): 1.24-1.98; p < 0.001]. The associations with either high BFP (OR = 1.20; 95% CI: 0.86-1.56, p = 0.167) or low CFL (OR = 1.15; 95% CI: 0.83-1.57; p = 0.267) were not statistically significant but in the direction of a priori hypotheses. Conclusions: This analysis of population-based data suggests that adolescents with amblyopia may be at higher risk of having obesity. Given the high prevalence of amblyopia and the range of morbidities associated with childhood obesity, targeted interventions to reduce the risk of obesity among children with amblyopia could be warranted.

RAB32 Ser71Arg in Chinese patients with Parkinson's disease.

The RAB32 Ser71Arg variant has been identified as a novel risk locus for Parkinson's disease (PD) in North American, European and North African populations. However, its pathogenicity in Asian populations remains unclear. To investigate this, we screened for the RAB32 c.213C > G (Ser71Arg) variant using Sanger sequencing in 1,099 PD patients and 1,549 controls. And we search for the RAB32 Ser71Arg variant in public databases to identified its mutant frequency. Our results show that no individuals carrying the RAB32 Ser71Arg variant were identified in our cohort. Additionally, this variant rarely appears in Asian population databases. Our findings suggest that the RAB32 Ser71Arg variant is unlikely to be a risk locus for PD in Chinese patients, which is potentially attributed to racial or ethnic differences.

The emerging role of GLP-1 receptor agonists in treating or preventing cancer

With the growing incidence of obesity-related malignancies, glucagon-like peptide-1 (GLP-1) receptor agonists represent an intriguing potential clinical avenue for cancer prevention and treatment. Population-based data suggest that individuals who have taken GLP-1 receptor agonists have a decreased incidence of obesity-related cancers. Moreover, in vivo and in vitro studies have demonstrated the antitumor activity of these agents independent of other antineoplastic therapeutics. Additionally, other pre-clinical studies have shown that GLP-1 receptor agonists may help overcome resistance to chemotherapy-refractory cancer cells, thus demonstrating a plausible role in cancer treatment. Randomized controlled trials utilizing GLP-1 receptor agonists in both cancer prevention and treatment may allow for a better understanding of the role of these agents in modern oncology.

Risk Factor for Child Maltreatment at 3 Years of Age in Japanese Multiples and Singletons: A Population-Based Study.

We evaluated the prevalence and risk factors for child maltreatment in multiples aged 3 years and compared them to singletons in Japanese population-based data. Records on child maltreatment and health check-ups at 3 years of age from 17,125 singletons, 488 twins and 18 triplets were collected from a Public Health Center between April 2007 and March 2011. The associations of child maltreatment with potential risk factors were analyzed using the logistic regression model. Out of all children, 76 (4.31 per 1000) children had documented maltreatment including 69 (4.03 per 1000) singletons and seven (14.31 per 1000) twins. All of the cases in twins were physical abuse (100%) and nearly half of the cases (43%) included emotional abuse. Among twins, 86% of the biological mothers were suspected. The alleged perpetrators of twins showed a significantly higher rate of maternal depression compared to those of singletons. After adjusting the results for a number of potential biological and social risk factors, twins or triplets had a higher risk for maltreatment than singletons (OR 3.39, 95% CI [1.17, 9.83]). Healthcare providers should be aware that a multiple birth can place considerable stress on a family leading to child maltreatment and should provide appropriate support and intervention for mothers with multiples.

Physical activity, and improvement in health-related quality of life among Australian middle-aged and older adults living with type 2 diabetes mellitus.

Physical inactivity is a major global public health concern and a recognized risk factor for type 2 diabetes mellitus (T2DM). However, the relationship between physical activity and health-related quality of life (HRQOL) in people with T2DM using longitudinal data remains underexplored. We aim to identify the improvement in HRQOL associated with physical activity in Australian middle-aged and older adults using population-based longitudinal data. Data for this study were drawn from waves 9, 13, 17, and 21 of the Household, Income and Labour Dynamics in Australia (HILDA) Survey. We constructed an unbalanced panel consisting of2,472 person-year observations from 1,270 unique individuals living with T2DM. We used a random effects Generalized Least Squares (GLS) model to examine the relationship between physical activity and HRQOL in people with T2DM. The regression results showed that physical activity is positively associated with physical component summary (PCS), mental components summary (MCS), and health state utility value (SF-6D). People with T2DM engaging in physical activity less than once or 1 or 2 times per week had a higher mean score for PCS (β = 4.28, 95%CI:3.38, 5.17), MCS (β = 2.36, 95%CI:1.38, 3.34), and SF-6D utility value (β = 0.04, 95%CI:0.03, 0.05) than their counterparts engaged in no physical activity. Similarly, engaging in physical activity three times daily per week had a further elevated mean score for PCS (β = 6.65, 95%CI: 5.72,7.60), MCS (β = 3.75, 95%CI:2.71, 4.79), and SF-6D utility value (β = 0.07, 95%CI: 0.06,0.08). Our results showed that physical activity is positively associated with improved HRQOL among people with T2DM. Public health initiatives should prioritize health education and community programs to promote physical activity across all demographics to enhance HRQOL in people living with T2DM.

Phenome-wide diagnostic comparison among suicide deaths and living individuals with chronic pain diagnoses

BackgroundChronic pain, regardless of its type, is a significant risk factor for suicide. However, not all individuals with chronic pain also experience suicidal thoughts and behaviors. Better characterization of clinical risk profiles and comorbidities across the medical spectrum among people with chronic pain who die by suicide is urgently needed to aid treatment and prevention strategies.MethodsThis case–control study leverages population-based data from the Utah Suicide Mortality Risk Study. Specifically, we identify clinical phenotypes from diagnostic data that differentiate between individuals that died by suicide with chronic pain diagnoses (N = 1,410) and living control individuals who also had chronic pain diagnoses (N = 4,664). Medical diagnostic codes were aggregated via phecodes to perform a phenotype-based phenome-wide association study. Using multivariable logistic regression analysis adjusting for covariates and multiple testing, differences in 1,727 common clinical phenotypes (phecodes) were assessed between suicide deaths and controls with chronic pain diagnoses. Models were also stratified by sex.ResultsChronic pain diagnoses were nearly three times more prevalent in individuals who died by suicide compared with those who did not. Sixty-five phecodes were significantly overrepresented among suicide deaths with chronic pain diagnoses compared with controls with chronic pain diagnoses. Utah suicide deaths with chronic pain had significantly more psychiatric diagnoses (mood disorders, anxiety disorders, attention deficit hyperactivity disorder, posttraumatic stress disorder, personality disorders, schizophrenia/psychosis, substance use related traits and prior overdoses, and diagnoses related to previous suicidal thoughts and behaviors) in addition to insomnia and specific pain related diagnoses compared to Utah controls with chronic pain (odds ratios ranged from 1.40–7.10). Twenty-five phecodes were overrepresented in controls with chronic pain compared to suicides. These were related to preventative care, cancer, obesity and other conditions (odds ratios ranged from 0.16–0.73). Sex-specific analyses largely replicated the combined analyses, yet the strength of the association was stronger for women with phecodes related to prior self-harm.ConclusionsResults identified multiple clinical comorbidities with chronic pain that differentiate suicide deaths from living control individuals with a history of diagnosed chronic pain. Our findings may help discern individuals with chronic pain who may be at greater risk for suicide death.

Changes in the epidemiology of under-5 mortality in China from 2016 to 2022: an observational analysis of population-based surveillance data

Sustainable Development Goal (SDG) 3.2 aims to end preventable deaths of newborns and children younger than 5 years. China's progress towards SDG 3.2 has not been evaluated on multiple dimensions. We aimed to assess mortality rates in children younger than 5 years (hereafter referred to as under-5 mortality) and to quantify preventable child mortality and geospatial and temporal trends in child mortality in China from 2016 to 2022. In this observational analysis, we used data from the Chinese National Maternal and Child Health Surveillance System (MCHSS) for the period Jan 1, 2016, to Dec 31, 2022 and conducted all-cause mortality and cause-specific mortality analyses for different age groups (age 0-6 days, 7-27 days, 0-27 days, 1-5 months, 6-11 months, 12-23 months, 24-59 months, and birth to 59 months) separately at the national, residential (rural vs urban), and regional (eastern vs central vs western China) levels. All mortality rates were adjusted by age group, type of residency, region, and region-residency strata using a 3-year moving average of the under-reporting rates. National deaths were estimated using the number of livebirths from 2016 to 2022 from the Health Statistics Yearbook of China. Estimated national-level and regional-level mortality rates were weighted by the proportion of the population living in urban and rural areas from the 2010 national census. Optimal survival metrics for neonates and children younger than 5 years were calculated by cause of death in 2020-22 (termed the national optimum), on the basis of the lowest mortality observed among the six region-residency strata. In 2022, approximately 65 700 (95% CI 62 700-68 800) children younger than 5 years died in China, with 45·1% (42·7-47·4) of these deaths occurring in the neonatal period (age <28 days). China's under-5 mortality rate decreased from 10·2 deaths (9·9-10·5) per 1000 livebirths in 2016 to 6·8 deaths (6·5-7·2) per 1000 livebirths in 2022; the neonatal mortality rate decreased from 4·9 deaths (4·7-5·1) per 1000 livebirths in 2016 to 3·1 deaths (2·9-3·3) per 1000 livebirths in 2022. The relative risk of death in children younger than 5 years in rural areas compared with urban areas decreased from 2·4 (2·2-2·6) in 2016 to 1·9 (1·7-2·1) in 2022, and in the western region compared with the eastern region decreased from 3·4 (3·0-3·9) in 2016 to 2·3 (1·9-2·8) in 2022. The leading causes of under-5 mortality in 2022 were injuries (23·1% [21·1-25·1] of all-cause deaths), congenital malformations (14·8% [13·1-16·4]), preterm birth complications (14·1% [12·5-15·7]), intrapartum-related events (10·1% [8·7-11·5]), and acute respiratory infections (9·5% [8·2-10·9]). The leading cause of death in the neonatal period was preterm birth complications (12·8% [11·4-14·2] of deaths in children younger than 5 years). Under-5 mortality in China declined between 2016 and 2022. Disparities across regions and in urban versus rural areas narrowed over time, but they still exist. Therefore, efforts should be made to further reduce child mortality in China, including consistent investments and implementing of policies, programmes, and interventions, especially for the western rural areas. None. For the Chinese translation of the abstract see Supplementary Materials section.

Real-world cost-effectiveness of multi-gene panel sequencing to inform therapeutic decisions for advanced non-small cell lung cancer: a population-based study

Multi-gene panel sequencing streamlines treatment selection for advanced non-small cell lung cancer (NSCLC). Implementation continues to be uneven across jurisdictions, partly due to uncertain clinical and economic impacts. In British Columbia (BC), Canada, the public healthcare system reimbursed a multi-gene panel in September 2016. This study determined the population-level cost-effectiveness of publicly reimbursed multi-gene panel sequencing compared to single-gene testing for advanced NSCLC. Our population-based retrospective study design used patient-level linked administrative health databases. We considered adult BC residents with a panel-eligible lung cancer diagnosis between September 2016 and December 2018. Using a machine learning approach, we conducted 1:1 genetic algorithm matching of recipients receiving multi-gene panel sequencing to controls receiving single-gene testing, maximising balance on observed demographic and clinical characteristics. Following matching, we estimated mean three-year survival time and costs (public healthcare payer perspective; 2021 CAD) and calculated the incremental net monetary benefit (INMB) for life-years gained (LYG) at conventional willingness-to-pay thresholds using inverse probability of censoring weighted linear regression and nonparametric bootstrapping. We matched 858 panel-eligible advanced NSCLC patients to controls, achieving balance for the 16 included covariates. Average test turnaround times were 18.6 days for multi-gene panel sequencing and 7.0 days for single-gene testing. After matching, mean incremental costs were $3529 (95% CI:-$4268, $10,942) and mean incremental LYG were 0.08 (95% CI:-0.04, 0.18). Among the 1000 bootstrap samples, 14.5% had lower costs and increased survival and 78.6% had higher costs and increased survival. The INMB was $523 (95% CI:-$6256, $7023) at $50,000/LYG, with a 57.5% probability of being cost-effective, and $4575 (95% CI:-$5468, $14,064) at $100,000/LYG, with an 84.0% probability of being cost-effective. Using population-based real-world data, we found a moderate to high probability that panel-based testing to inform targeted treatment for NSCLC would be cost-effective at higher thresholds. This research was supported by Genome British Columbia/Genome Canada (G05CHS) and the Terry Fox Research Institute.

New mutation in the β-spectrin gene in hereditary spherocytosis: A case report

In patients with recurrent anemia, jaundice, and splenomegaly, a thorough assessment of family history and peripheral blood smears is crucial for diagnosing hereditary spherocytosis (HS). Furthermore, gene sequencing can enhance diagnostic accuracy and facilitate the investigation of disease mechanisms at the molecular level. In this report, we present a case of HS caused by a heterozygous nonsense mutation in the SPTB gene, along with a family history of this specific mutation. A 35-year-old man was evaluated for jaundice and splenomegaly, which he had experienced since childhood. Blood tests revealed anemia, reticulocytosis, elevated indirect bilirubin levels, and an increased percentage of spherical red blood cells in the peripheral blood. His family history indicated that both his father and daughter exhibited similar clinical manifestations. Subsequently, genetic sequencing confirmed that the patient, along with his father and daughter, shared the heterozygous missense mutation c.155G > A (p.Arg52Gln) in the SPTB gene, which is absent in public population and animal sequence databases. Structural prediction analysis of the protein suggests that this mutation may lead to instability of SPTB mRNA, thereby affecting the synthesis of the spectrin protein and the integrity of the red blood cell membrane skeleton. Further research is needed to clarify the exact relationship between this mutation and the occurrence of HS.

Mapping genetic susceptibility to spontaneous preterm birth: Analysis of Utah pedigrees to find inherited genetic factors.

Spontaneous preterm birth (SPTB) is the leading cause of neonatal morbidity and mortality. It is a final common pathway for multiple etiologies, some of which are well known while others likely remain to be identified. Despite recent advancements in identifying genetic risk factors, the mechanisms of many SPTBs remain poorly understood due to the phenotypic heterogeneity and complexity. Large family-based studies decrease heterogeneity and improve power to identify genetic causes of SPTB. To identify inherited genetic factors in SPTB etiology using large families. Using the Utah Population Database, which links a 4.5 million-person genealogy to state birth certificate and fetal death records, we identified large pedigrees containing multiple women with early SPTB (<34 weeks' gestation) and any SPTB (<37 weeks' gestation). We reviewed birth certificate data to exclude those with maternal and fetal diagnoses associated with iatrogenic preterm birth, resulting in 74 large multiplex pedigrees for early SPTB. Enrolled women with SPTB underwent comprehensive clinical phenotyping with review of primary medical records. Seven pedigrees, each containing at least 3 sampled women with SPTB, were the focus of this genetic study. High-density single-nucleotide polymorphism genotyping was conducted in maternal peripheral blood samples from women in the seven pedigrees. Shared genomic segments analysis was performed to identify genome-wide significant chromosomal regions shared in excess by women with SPTB. We identified two genome-wide significant chromosomal regions. In single-pedigree SGS analysis, a 1.75 Mega base region in chromosome 8 (8q24.23) was shared by 5 out of 6 women with SPTB in a single large pedigree (false positive rate=0.028). In duo-pedigree analysis, a 1.05 Mega base region in the same 8q24.23 locus was identified in a second pedigree (false-positive rate [duo]= 0.0019). The intersecting region at the 8q24.23 locus contains FAM135B (family with sequence similarity 135 member B) and KHDRBS3 (KH RNA binding domain containing, signal transduction associated 3) genes, which have previously been implicated in oncogenesis and ovarian cancer, respectively. Duo-pedigree SPTB analysis also identified a second genome-wide significant 67 kilo base locus in chromosome 12 (12q21.1-q21.2) that was shared by all women with SPTB in two independent pedigrees (false-positive rate [duo] =0.01). The intersecting region at the 12q21.1-q21.2 locus contains CAPS2 (calcyphosine 2) and KCNC2 (potassium voltage-gated channel subfamily C member 2) genes, both implicated in vascular-related complications of pregnancy and preterm labor. Using large SPTB families, we identified shared chromosomal regions (8q24.23 and 12q21.1-q21.2), providing evidence for inherited (segregating) risk loci in SPTB etiology. Further investigation into genes in SPTB etiology, including functional validation may provide avenues for novel therapeutic development and guide efforts for SPTB prevention to prolong pregnancy and improve outcomes.

Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion.

Copy number variations (CNVs) may contribute to medical conditions. However, research on the impact of individual CNVs on endocrine disease is limited. This study aimed to provide new data on obesity and metabolic syndrome (MetS) in adults with microdeletion 22q11.2, the pathogenic CNV associated with 22q11.2 deletion syndrome. We examined prevalence rates of obesity and MetS in 103 adults with a typical 22q11.2 deletion (45.2% male, at median age 30.0 (range 17-71) years) and compared these rates with population-based data. Generalized obesity was defined by a body mass index (BMI) ≥ 30 kg/m2, abdominal obesity by a waist circumference (WC) of ≥102 cm in males and ≥88 cm in females, and MetS by standard Joint Interim Statement criteria. General linear models were used to examine the independent associations of age, sex, congenital heart defect, smoking, and antipsychotic use with BMI, WC, and the presence of MetS. Prevalence rates of generalized obesity (32.0%), abdominal obesity (51.5%), and MetS (33.0%) were significantly higher compared to a population-based cohort (15.7% (P < 0.0001), 36.1% (P = 0.002), and 15.2% (P < 0.0001), respectively). In antipsychotic naïve subjects, significant correlations were observed between age and BMI (r = 0.54, P < 0.001), and age and WC (r = 0.60, P < 0.001). These correlations were not present in individuals taking antipsychotic medication. The models predicting BMI (F(5, 97) = 3.083, R2 = 0.137, P = 0.01) and WC (F(5, 92) = 5.985, R2 = 0.245, P < 0.001) were significant. Only age was individually predictive of outcomes (P < 0.05 and P < 0.001). The model predicting MetS was also significant (P < 0.001), with higher age being the only factor associated with MetS (OR = 1.07, 95% CI = 1.03-1.12, P < 0.001). Generalized and abdominal obesity, as well as MetS, appear to be common in adults with 22q11.2 deletion syndrome, emphasizing the importance of careful monitoring from a young age. These findings contribute to the limited knowledge about the association between pathogenic CNVs, obesity, and MetS.

Racial and ethnic disparities in the risk of second primary malignancies in differentiated thyroid cancer patients: a population-based study.

There is limited evidence on the risks of second primary malignancies (SPMs) among patients with differentiated thyroid cancer (DTC), particularly in relation to racial disparities. We aim to examine racial and ethnic disparities in the risk and temporal patterns of SPMs among DTC survivors in the U.S. This retrospective cohort study, grounded in population-based data from the Surveillance, Epidemiology, and End Results (SEER) program, focused on DTC patients diagnosed between 2004 and 2015. Standardized incidence ratios (SIR) and 95% confidence intervals were employed to estimate high-risk sites for SPMs among different races. The competing risks model was applied to assess SPM risks and risk factors across racial groups, with mediation analysis conducted for selected variables. Among 90,186 DTC patients, 8.3% developed SPMs. DTC survivors face a 15% higher risk of developing SPMs compared to the general population. Blacks demonstrated a significantly lower risk of SPMs, while other ethnic groups faced higher risks than Whites. Specific SPM risk factors for Whites, Blacks, and other ethnicities were receiving radiotherapy, diagnosis at a distant stage, and tumors exceeding 40 mm, respectively. Specifically, Blacks and other ethnic groups primarily encounter SPMs in the salivary glands, soft tissues, hematologic, and urinary systems, often earlier than in Whites. Conversely, Whites had a broader distribution of risk sites, with a notable risk for other endocrine tumors, manifesting 48-87 months post-diagnosis. DTC patients show significant racial and ethnic disparities in high-risk sites, temporal patterns, SPM risks and risk factors. Personalized follow-up for diverse ethnic backgrounds can ameliorate disparities, enhancing SPM risk and survival outcomes.

Medical and Demographic Characteristics of Patients With Eosinophilic Esophagitis and Celiac Disease

Background: Eosinophilic esophagitis (EoE) and celiac disease are both chronic T helper cell-mediated inflammatory conditions of the digestive tract. Although an association between these two conditions has been suggested, it has not been well characterized in a real-world setting. Goals: Our objective was to better examine the association between celiac disease and EoE using a real-world population database. Study: This was a retrospective cohort study of data using TriNetX, a global population database, to identify patient records using International Classification of Disease 10 (ICD-10) codes. We organized participants into six distinct cohorts predicated on age and diagnoses of celiac disease and EoE between April 28, 2003, and April 28, 2023. Patient demographics, prevalence, incidence, and medical characteristics of each cohort were extracted. Results: Among 46,398 patients with EoE and 84,383 patients with celiac disease, individuals with EoE demonstrated a higher prevalence (2.76%) and incidence (329/100,000 persons/year) of celiac disease compared with those without EoE (0.21% prevalence and 146/100,000 incidence, between 2021 and 2023). A concurrent diagnosis of both conditions increased the risk of asthma (RR: 2.00 pediatric, 1.82 adult), allergic rhinitis (RR: 2.35 pediatric, 1.81 adult), atopic dermatitis (RR: 3.28 pediatric, 2.07 adult), and rheumatoid arthritis (RR: 3.53 pediatric, 1.41 adult). In addition, patients with celiac disease with EoE exhibited a heightened risk for iron deficiency anemia (aHR 1.789; 95% CI: 1.166 to 2.745). Conclusions: Both the incidence and prevalence of EoE are elevated in patients with celiac disease and vice versa. These concurrent diagnoses affect disease characteristics and heighten the risk of complications in celiac disease.

Addressing data needs crucial for improving infant, child and youth mental health and substance-related harms in Aotearoa New Zealand: key design and ethical considerations for future research.

To evaluate the available data on mental health and substance-related harm among infants, children and young people (ICY) in Aotearoa New Zealand. A scoping review was undertaken to take stock of current data and identify gaps. Although there are quality studies, there is a lack of comprehensive, contemporary population-based data to monitor the prevalence and magnitude of mental health conditions and substance use-related harm for children and young people. Existing data are inconsistently measured and are not centrally located or available for all age groups, particularly infants and children. Whānau/family units are seldom considered or prioritised. Aotearoa New Zealand lacks accurate, up-to-date, comprehensive ICY mental health and substance use data to inform investment, service delivery and evidence-based policy. We advocate for enhanced surveillance and monitoring through population-based mental health and addiction studies with Indigenous and other locally designed measures, and propose key design and ethical considerations for future research. Future research must prioritise Māori and other priority groups, with non-stigmatising, strengths-based approaches. Addressing these data gaps presents a critical opportunity to improve outcomes for children, young people and their whānau.

Focus on the Blind Spot of Stone Disease: Analysis of Lower Urinary Tract Stone Interventions from 2006 to 2020 using German nationwide inpatient data.

Introduction To analyze contemporary treatment trends in bladder stone management in Germany over a 15-year period. Methods We analyzed data from the nationwide German hospital billing database from 2006 to 2020. The significance of changes over time was evaluated via linear regression analysis. Results Total case numbers of therapeutic interventions for lower urinary tract calculi increased from 6,770 in 2006 to 9,037 in 2020 (p<0.001). Transurethral cystolithotripsy (TUCL) was the predominant procedure with increasing case numbers from 5,552 in 2006 to 7,699 in 2020 (p<0.001). Also, the share of TUCL increased by 4 % during the study period. TUCL with laser fragmentation was coded in 82 cases in 2006 and in 1,527 cases in 2020 (p<0.001). Case numbers of percutaneous cystolithotripsy (PCCL) also increased over time from 406 to 430 cases (p=0.005), but the share decreased by 20 %. Inpatient shock wave lithotripsy (SWL) is very rarely performed for bladder calculi with an average of 22 cases per year in all hospitals in Germany. Case numbers of open cystolithotomy (OCL) also increased from 614 cases in 2006 to 692 cases in 2020 (p=0.006), but the share decreased by 15.5 %. On average 164 cases of stone removal from neobladders per year were performed, mainly transurethrally (47 %) or via an open approach (21 %). Case numbers of TUCL combined with transurethral resection of the prostate (TUR-P) declined from 1,712 in 2006 to 1,450 in 2020 (p=0.014). However, this might be attributed to the concomitant rise of laser enucleation of the prostate with steadily increasing case numbers in Germany. Conclusion We present contemporary population-based data on bladder stone treatment in Germany. TUCL is the predominant therapeutic modality with increasing case numbers, but open cystolithotomy is still performed frequently. TUR-P is the procedure that is most often combined with TUCL.

Projection of future gastric cancer incidence and health-care service demand by geographic area in Kanagawa, Japan.

Projections of future gastric cancer incidence and the demand for health-care services for gastric cancer patients by geographic area will assist local authorities in determining health-care needs, allocating medical resources, and planning services. This study aims to project the future incidence of gastric cancer, estimate the number of patients per medical institution, and decompose the net changes in cases to assess the impact of population aging by geographic area. Our projections are based on population-based cancer registry data, census data from 2000 to 2020, and the projected population for 2025-2045 in Kanagawa, Japan. We classified Kanagawa into urban, town, outer city, and rural areas based on geographic and population features. The number of medical institutions providing gastric cancer treatment was used to estimate the number of patients per medical institution. We projected a decrease of 25%, 52%, and 5% in gastric cancer cases in towns, outer cities, and rural areas from 2020 to 2045, respectively. However, cases are expected to increase by 9% in urban areas, primarily due to population aging. The annual number of gastric cancer patients per medical institution in urban areas is expected to increase from 54 to 59, while numbers in other areas are predicted to decline from 2020 to 2045. Our long-term projections indicate that the number of older gastric cancer patients will continue to increase in urban areas. While current measures effectively reduce gastric cancer risk, they need to be revised to address the impact of population aging.

Autoimmune Disease is Increased in Women with Primary Ovarian Insufficiency.

Autoimmune disease is common in women with primary ovarian insufficiency (POI) and the genetic etiology of autoimmune disease suggests that it could be hereditary in families of women with POI. We hypothesized that a subset of women with POI and their family members would have increased risk for autoimmune disorders. Population-based study using electronic health records from 1995-2022. Two major Utah healthcare systems serving 85% of the state. Women with POI (n=610) were identified using ICD codes and chart reviewed for accuracy. First-, second-, and third-degree relatives were identified using genealogy data in the Utah Population Database. Autoimmune diagnoses were identified using ICD codes. The relative risk of autoimmune disease in women with POI and relatives was estimated by comparison to population rates. At least one autoimmune disease was identified in 25% of women with POI. The relative risk of autoimmune hypothyroidism (OR [95%CI] 6.88 [5.71, 8.22]; p<0.001), adrenal insufficiency (4.72 [1.73, 10.28]; p=0.0020), type 1 diabetes (4.13 [2.14, 7.22]; p=5.25X10-5), rheumatoid arthritis (5.66 [3.10, 9.50]; p=3.70X10-7), vitiligo (15.33 [6.16, 31.58]; p=5.25X10-7), celiac disease (7.58 [3.47, 14.39]; p=4.47X10-6), psoriasis (3.90 [2.01, 6.81]; p=9.04X10-5) and systemic lupus erythematosus (4.43 [1.63, 9.64]; p=0.0027) were increased in women with POI compared to population rates. There was no increased risk of autoimmune disease in family members. Data confirm increased autoimmune disease in women with POI. The increased risk is largely related to autoimmune polyglandular syndrome types 1 through 4 and autoimmune hypothyroidism. The absence of risk in family members may result from differences in environmental influences or hormone milieu.

Caesarean section and risk of infection in offspring: systematic review and meta-analysis of observational studies

ObjectiveTo compare the risk of hospital admissions with infections and infections not in hospital in children born by caesarean section with children born by vaginal birth.Data sourcesMedline, Embase, and PubMed...

Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation.

We present a 7.5-year-old boy born to a family from the Iranian Azeri Turkish ethnic group with a consanguineous marriage who presents with a unique set of symptoms, suggesting Giant Axonal Neuropathy. He achieved independent walking at age 3 years, with frequent falling during running. Physical and neurological examinations reveal curly blond hair, generalized muscle atrophy, slow speech and difficulty swallowing solid food, foot drop, pes cavus, hammertoe deformities; reduced deep tendon reflexes, clumsy gait, impaired sense of position, and intention tremors.This comprehensive report significantly expands the clinical and mutational spectrum of Giant Axonal Neuropathy. Whole Exome Sequencing (WES) analysis revealed a novel homozygous variant (NC_000016.10(NM_022041.3):c.2T > C) in the GAN gene, confirmed by Sanger sequencing. Segregation analysis showed that the parents were heterozygous for the variant. The variant was absent in a cohort of 430 healthy individuals from the same ethnic group and in other published population databases such as GenomAD and the 1000 Genome. The clinical manifestations, segregation analysis, population study, and bioinformatics analysis collectively confirm the pathogenicity of variant.