OBJECTIVE: To explore the prenatal and postnatal phenotypes of 22q11.2 microdeletion syndrome (22q11.2DS) and enhance clinical understanding of this condition. METHODS: Data were collected from 86 fetuses diagnosed with 22q11.2DS at four prenatal diagnostic centers across China between January 2014 and August 2025. Prenatal imaging findings, pregnancy outcomes, and postnatal conditions were analyzed. RESULTS: Among the 86 fetuses, complete ultrasound data were available for 65 cases. Cardiovascular abnormalities were observed in 42 cases, thymic hypoplasia or aplasia in 7 cases, urinary system anomalies in 6 cases, nuchal translucency (NT) thickening in 7 cases, butterfly vertebrae, clubfoot, omphalocele and diaphragmatic hernia in 1 case each, cleft lip and palate in 2 cases, and ultrasound soft markers in 13 cases. The parents of 9 fetuses opted to continue with the pregnancy. Among these, 6 showed no significant ultrasound abnormalities and no related phenotypes postnatally, while the remaining 3 exhibited ultrasound anomalies with postnatal manifestations including developmental delay, immunodeficiency, and cardiac defects. CONCLUSION Fetuses with 22q11.2DS may exhibit various ultrasound abnormalities in multiple systems before and after birth. In addition to cardiovascular anomalies, they may also present with thymic hypoplasia or aplasia, thickened NT, and urinary abnormalities. Fetuses with thickened NT or thymic anomalies should be closely monitored, and thymic assessment should be included in routine prenatal imaging evaluations. For fetuses with 22q11.2DS who show no ultrasound abnormalities, the risk of developing severe phenotypes after birth is relatively low, but occult palate clefts and psychiatric disorders cannot be ruled out. Due to limitations in sample size and follow-up duration, above conclusions require further validation through large-scale prospective studies.
Humans ; Female ; Pregnancy ; Ultrasonography, Prenatal ; DiGeorge Syndrome/genetics* ; Adult ; Male ; Follow-Up Studies ; Fetus/diagnostic imaging* ; Phenotype ; Infant, Newborn

OBJECTIVE: To analyze the phenotype and genotype of a neonate with Osteo-oto-hepato-enteric syndrome (O2HE) and review the literature. METHODS: A female neonate diagnosed with O2HE syndrome on December 13, 2024 at the First Affiliated Hospital of Zhengzhou University was selected as the study subject, and her clinical characteristics were analyzed, and pathogenic variants were explored by whole exome sequencing (WES). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2025-KY-1038). RESULTS: The proband, a female infant, was delivered by Cesarean section at 36⁺¹ weeks of gestation. Five days after birth, she had developed severe diarrhea, mild cholestasis, sensorineural hearing loss, and growth retardation. WES revealed that she has harbored novel compound heterozygous variants c.512delA (p.Lys171Serfs*64) and c.698C>A (p.Thr233Asn) of the UNC45A gene, which were inherited from her mother and father, respectively. A total of 8 English papers were retrieved, which involved 16 patients from 14 families. Combined with our case, the 17 patients included 13 (76.5%) females and 4 (23.5%) males. Four patients (23.5%) had consanguineous parents. One case was excluded from further genetic analysis due to co-morbidity with other genetic variants. The primary clinical features included diarrhea (87.5%), cholestasis (81.3%), sensorineural hearing loss (31.3%), bone fragility (37.5%), and developmental delay (50.0%). Bi-allelic compound heterozygous mutations were identified in 12 patients (75.0%), and homozygous variants in 4 (25.0%). These included missense, nonsense, frameshift and deletional variants. The c.710T>C (p.Leu237Pro) variant was identified for 5 times, 3 of which were in homozygote forms. CONCLUSION O2HE syndrome should be suspected in cases with diarrhea, cholestasis, and hearing abnormalities during early postnatal period. Genetic testing facilitate early identification, genetic diagnosis and treatment.
Humans ; Female ; Infant, Newborn ; Male ; Mutation ; Hearing Loss, Sensorineural/genetics* ; Diarrhea, Infantile/genetics* ; Exome Sequencing ; Phenotype ; Fetal Growth Retardation ; Hair Diseases ; Facies

OBJECTIVE: To explore the serological and molecular genetic characteristics of a family with subtype B(A)06. METHODS: A neonatal hyperbilirubinemia patient who was treated at Henan Children's Hospital on June 15, 2023 due to "yellowing of the skin and gradual aggravation", and was found to have inconsistent ABO forward and reverse typing through blood type testing, was selected as the research subject. Six milliliters of peripheral blood were collected from the newborn and her family members (grandfather, grandmother, father, mother and aunt) respectively. ABO blood group identification was performed by the blood group serological method. Human genomic DNA was extracted using the nucleic acid extraction or purification reagent BT-01. ABO gene exons 2 to 7 were amplified by PCR. The PCR-specific products that were successfully amplified were sequenced by Sanger method. Taking ABO*A1.01 as the reference sequence, the ABO gene sequences of the newborn and her family members were analyzed to determine the ABO genotype. The procedures followed in this study were approved by the Ethics Committee of Henan Children's Hospital (Ethics No.: 2022-K-L036). RESULTS: The serological results of ABO blood group showed that the newborn, her grandfather, father and aunt were all incompatible with the forward and reverse typing. The blood group phenotype of the newborn was AwB or B(A), the blood group phenotype of the grandfather was A2B or B(A), the blood group phenotype of the father and aunt were A2B, and the blood group phenotype of the grandmother and mother were both O. The screening test results of hemolytic disease of the newborn showed that the free test detected IgG anti-A1 antibody, while the elution test, direct antiglobulin test and antibody screening results were all negative. The Sanger sequencing results showed that the newborn had variations of c.261delG, c.297A>G, c.526C>G, c.657C>T, c.703G>A, c.796C>A and c.930G>A. Her grandfather had variations of c.297A>G, C.526C>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C and c.930G>A. Her grandmother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T and c.829G>A. Her father and aunt had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.526C>G, c.646T>A, c.657C>T, c.681G>A, c.703G>A, c.771C>T, c.796C>A, c.829G>A and c.930G>A. Her mother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T, and c.829G>A.The genotype of the newborn was ABO*BA.06/ABO*O.01.01, her grandfather was ABO*BA.06/ABO*B.01, her grandmother was ABO*O.01.02/ABO*O.01.02, her father and aunt were ABO*BA.06/ABO*O.01.02, and her mother was ABO*O.01.01/ABO*O.01.02. The ABO*BA.06 allele of the newborn, grandfather, father and aunt was caused by the c.803C>G variation in exon 7 based on the ABO*B.01 allele. The ABO*BA.06 allele can be stably inherited in this family. CONCLUSION The blood type of neonatal patients with B(A)06 subtype can be accurately determined by gene sequencing technology. If the forward typing is ≤ 3+ agglutination intensity in newborn ABO blood group identification, the reason should be carefully analyzed, and the molecular biology technology and family gene sequencing results should be used to jointly determine if necessary.
Humans ; ABO Blood-Group System/genetics* ; Female ; Pedigree ; Male ; Infant, Newborn ; Asian People/genetics* ; Genotype ; China ; Blood Grouping and Crossmatching ; Hyperbilirubinemia, Neonatal/blood* ; East Asian People

OBJECTIVE: To elucidate the epidemiological characteristics and genetic variant profile of Short-chain acyl-CoA dehydrogenase deficiency (SCADD) among newborns from Hainan Province and evaluate its significance within the local neonatal disease screening panel. METHODS: A total of 84 184 newborns born in Hainan Province from February to December 2024 were included. Tandem mass spectrometry (MS/MS) was employed to detect butyrylcarnitine (C4) and propionylcarnitine (C3) levels in dried blood spots. Screening thresholds were set at C4 > 0.43 μ mol/L and C4/C3 ratio > 0.28. Suspected cases underwent confirmatory testing via urinary ethylmalonic acid analysis by gas chromatography-mass spectrometry and whole-exome sequencing for ACADS gene variants. This study was approved by the Medial Ethics Committee of the hospital (Ethics No.: HNWCMC-2024-55). RESULTS: Six SCADD cases (male-to-female ratio = 1:1) were diagnosed, with all carrying compound heterozygous variants at two loci, yielding a prevalence of 7.13 per 100,000 live births. Four known ACADS gene variants were identified, with both c.322G>A and c.625G>A detected at a frequency of 41.7%. Regular follow-up (as of January 2026) revealed that all diagnosed cases have remained asymptomatic with normal growth and development. CONCLUSION The prevalence of SCADD among newborns in Hainan Province is relatively high, with c.322G>A and c.625G>A as the hotspot variants in the region. Given the absence of clinical phenotypes in all screen-detected cases during long-term follow-up, it is recommended to remove this condition from the routine neonatal screening program for this region to reduce unnecessary anxiety and medical cost.
Humans ; Infant, Newborn ; Neonatal Screening/methods* ; Female ; Male ; Lipid Metabolism, Inborn Errors/epidemiology* ; Acyl-CoA Dehydrogenase/genetics* ; China/epidemiology* ; Follow-Up Studies

Aims or objective: To determine the prevalence of neurodevelopmental disorder (NDD) comorbidities and their association with the clinical profile of children with focal epilepsy treated at the Philippine Children’s Medical Center from 2023 to 2024.

Materials and Method: This cross-sectional analytical study was conducted from June 10, 2023 to June 1, 2024 at the Philippine Children's Medical Center. Detailed information was obtained for each case according to protocol. A complete history was taken from the accompanying caretakers. Children aged 0 to 7 years and 11 months, recently diagnosed with focal epilepsy, were evaluated using the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5-TR) criteria. The level of early child development was determined based on the total Battelle Developmental Inventory-2 developmental quotient score.

Results: The study examined 246 children with focal epilepsy. Significant findings included those children with NDD had a higher median age (4.67 years) compared to those without NDD (3.37 years) (p < .001). A higher proportion of non-NDD children were under one year old. Children without NDD had mothers with higher educational attainment (p = .015) and came from families with higher incomes (p = .003). Neonatal complications such as hypoxic-ischemic encephalopathy (HIE) and sepsis were more common in children with NDD (p = .005 and p = .006). Phenobarbital use was more frequent in children with NDD (p = .001), who also had more abnormal EEG and neuroimaging findings (p < .001). Neurodevelopmental evaluations were conducted later for children with NDD (p < .001). A significant number (75.20%) of children exhibited neurodevelopmental problems, with global developmental delay being most prevalent. Crude analysis showed associations between age, number of antiseizure medications, and delays in evaluation with increased odds of NDD.

Conclusion: The study offers insights into children with focal epilepsy at a tertiary hospital in the Philippines, emphasizing the impact of low socioeconomic status, age, birth complications and multiple anti-seizure medications. These findings are vital for clinicians to modify care plans through a multidisciplinary approach to enhance outcomes and improve quality of life in this high-risk population.

Human ; Male ; Female ; Infant Newborn: First 28 Days After Birth ; Infant: 1-23 Months ; Child Preschool: 2-5 Yrs Old ; Child: 6-12 Yrs Old ; Neurodevelopmental Disorders ; Sepsis ; Hypoxia-ischemia, Brain ; Epilepsies, Partial ; Educational Status ; Diagnostic And Statistical Manual Of Mental Disorders ; Child Development

Objectives: This study aims to describe the clinical profile of patients with tuberculosis of the spine admitted at PCMC from the year 2012-2022. Moreover, this study aims to describe the clinical profile (age, gender, BMI, area of residence) of the patients with tuberculosis of the spine admitted at PCMC from the years 2012-2022. It also aims to present the known BCG vaccination status, exposure and risk factors (nutritional factors, comorbidities), of these patients. This study presents the symptomatology (including the spinal level of involvement, and severity, sensory or motor dysfunction) and the medical and/or surgical treatment and the outcome of these identified patients.

Materials and Methods: A retrospective chart review at PCMC analyzed children under 19 diagnosed with Pott’s Disease from January 2013 to December 2022. The study, approved by the Institutional Review Board, included demographic data, clinical manifestations, BCG vaccination status, treatment details, and outcomes, while excluding non-Filipino patients and readmissions.

Results: This study examined 41 pediatric patients with Pott’s disease at the Philippine Children’s Medical Center from 2012 to 2022, primarily affecting males aged 10-15. Most patients were from low-income backgrounds. Symptoms included chronic back pain, fever, and neurological issues, with advanced imaging required for diagnosis. While 93% had received BCG vaccinations, the correlation with disease severity was inconclusive. Treatment involved anti-tuberculous agents, with surgery for severe cases. Despite improvements, none were disease-free, highlighting chronic disabilities. The findings emphasize the need for better management of spinal tuberculosis and increased BCG vaccination among children in high TB-burden areas.

Conclusion: The study evaluated the clinical profile and clinical features of children with Pott’s Disease who were treated at the Philippine Children’s Medical Center (PCMC) between the years 2012-2022. The data from the study identifies the BCG vaccine may not prevent the onset of Pott's disease.

Keywords: Pott’s Disease, Clinical Profiles, Treatment Outcomes

Human ; Male ; Female ; Infant Newborn: First 28 Days After Birth ; Infant: 1-23 Months ; Child Preschool: 2-5 Yrs Old ; Child: 6-12 Yrs Old ; General Surgery ; Child ; Bcg Vaccine ; Mycobacterium Bovis ; Patients ; Risk Factors ; Tuberculosis, Spinal ; Vaccination

BACKGROUND: There is growing evidence that the occurrence and severity of respiratory diseases in children are related to the concentration of air pollutants. Nonetheless, evidence regarding the association between short-term exposure to air pollution and outpatient visits for respiratory diseases in children remains limited. Outpatients cover a wide range of disease severity, including both severe and mild cases, some of which may need to be transferred to inpatient treatment. This study aimed to quantitatively evaluate the impact of short-term ambient air pollution exposure on outpatient visits for respiratory conditions in children. METHODS: This study employed data of the Second People's Hospital of Yichang from January 1, 2016 to December 31, 2023, to conduct a time series analysis. The DLNM approach was integrated with a generalized additive model to examine the daily outpatient visits of pediatric patients with respiratory illnesses in hospital, alongside air pollution data obtained from monitoring stations. Adjustments were made for long-term trends, meteorological variables, and other influencing factors. RESULTS: A nonlinear association was identified between PM_2.5, PM₁₀, O₃, NO₂, SO₂, CO levels and the daily outpatient visits for respiratory diseases among children. All six pollutants exhibit a hysteresis impact, with varying durations ranging from 4 to 6 days. The risks associated with air pollutants differ across various categories of children's respiratory diseases; notably, O₃ and CO do not show statistical significance concerning the risk of chronic respiratory conditions. Furthermore, the results of infectious respiratory diseases were similar with those of respiratory diseases. CONCLUSIONS Our results indicated that short-term exposure to air pollutants may contribute to an increased incidence of outpatient visits for respiratory illnesses among children, and controlling air pollution is important to protect children's health.
Humans ; China/epidemiology* ; Air Pollutants/analysis* ; Respiratory Tract Diseases/chemically induced* ; Child ; Child, Preschool ; Environmental Exposure/adverse effects* ; Air Pollution/analysis* ; Infant ; Male ; Particulate Matter/adverse effects* ; Female ; Ambulatory Care/statistics & numerical data* ; Outpatients/statistics & numerical data* ; Adolescent ; Infant, Newborn

BACKGROUND: Although the influence of maternal distress during pregnancy on newborn Apgar scores has been studied in various populations, there is limited research specifically addressing this issue among Asian women. This study of Japanese women aims to investigate the association between maternal distress during pregnancy and the risk of a low 5-min-Apgar score among newborns. METHODS: We analyzed data from 87,765 mother-newborn pairs in the Japan Environment and Children's Study. Using multivariable logistic regression, we estimated odds ratios (OR) and 95% confidence intervals (CI) for low Apgar scores (<7) at 5 minutes about maternal distress during early and mid-late pregnancy, as measured by the Kessler Psychological Distress Scale (K6). Apgar scores were obtained from newborns' medical records. RESULTS: A higher risk of low Apgar score in newborns at 5 minutes was found in mothers with moderate to severe distress than in those with low distress during mid-late pregnancy. The adjusted OR (95% CI) was 1.22 (1.05-1.42) for moderate distress (K6 = 5-12) and 1.42 (1.00-2.01) for severe distress compared to low distress (p for trend = 0.002). The positive association between maternal distress and the risk of low Apgar score was observed in preterm birth (<37 weeks) and low birth weight (<2,500 g) but not in term birth and normal birth weight. CONCLUSION Maternal distress during mid-late pregnancy was positively associated with the risk of low Apgar score of newborns, specifically in preterm birth and low birth weight.
Humans ; Female ; Pregnancy ; Japan/epidemiology* ; Apgar Score ; Infant, Newborn ; Adult ; Stress, Psychological/epidemiology* ; Male ; Young Adult ; Pregnancy Complications/epidemiology* ; Mothers/psychology* ; Risk Factors

BACKGROUND: The efficacy of routine childhood immunization depends on timely vaccine uptake and facility use patterns. This study examined the association between pediatric vaccination facility use patterns and routine childhood immunization uptake among children up to age eight years. METHODS: As part of the Kochi Adjunct Study of the Japan Environment and Children's Study (JECS), we analyzed data from 1,644 participants whose Maternal and Child Health Handbook photographs were collected in the eighth year of the cohort study. Maternal and Child Health Handbook records determined immunization completion. Participants were categorized into four groups based on pediatric vaccination facility use patterns: single facility use throughout, multiple facility use during the first period, multiple facility use during the second period, and multiple facility use throughout both periods. Maternal and child characteristics were collected via paper-based questionnaires. Associations between facility use patterns, sociodemographic factors, and immunization completion were analyzed using chi-square tests and logistic regression. RESULTS: Overall, routine childhood immunization completion was observed in 1,259 (76.6%) participants. Chi-square tests indicated that marital status, educational level, lower parity, never smoking, not attending nursery, and breastfeeding practice for infants aged four months old were significantly associated with routine childhood immunization completion. Single facility use throughout the immunization period was observed in 1,011 (61.5%) participants. Multiple facility use (38.5%) was associated with higher odds of routine childhood immunization incompletion than single facility use. This association was the strongest for those who used multiple facilities throughout the vaccination period (adjusted odds ratio, 1.90; 95% confidence interval, 1.24-2.91). CONCLUSIONS Single pediatric facility use was associated with higher routine immunization uptake. Our findings suggest that encouraging the use of one medical institution for a child's vaccinations may be a useful approach to consider when addressing vaccination coverage challenges.
Humans ; Japan ; Female ; Male ; Infant ; Child, Preschool ; Health Facilities/statistics & numerical data* ; Child ; Vaccination/statistics & numerical data* ; Adult ; Immunization/statistics & numerical data* ; Cohort Studies ; Infant, Newborn

BACKGROUND: Previous studies have shown that old age and cold temperatures are risk factors for bathing-related accidents (BRAs) in Japan. The differences between outdoor and indoor temperatures are believed to depend on the housing type (detached houses or apartment buildings). This study aimed to investigate the associations between age, temperature, and BRAs according to housing type in Japan. METHODS: We included cases in which patients were transported by ambulance from domestic bathrooms between April 2016 and March 2022 in Nagoya city. Age-specific BRA incidence rates measured by 5-year age groups, temperature-specific age-adjusted standardized incidence rates (SIRs) for BRA calculated by temperature quintile groups, and the BRA risk regarding temperature based on a time-stratified case-crossover (CCO) design were compared between detached houses and apartment buildings. RESULTS: We observed 4,848 ambulance dispatches owing to BRAs (3,083 in detached houses and 1,765 in apartment buildings; SIR for detached houses compared to apartment buildings: 1.37; 95% confidence interval [CI]: 1.33-1.43). The ratio of detached houses to apartment buildings in the age-specific BRA incidence was almost the same in middle-aged people, but it significantly increased from the age of 70 years onward (incidence rate ratio for the 70-74-years age group: 1.74; 95% CI: 1.43-2.11). Temperature-specific SIR for detached houses compared to apartment buildings was not significantly different in the hottest temperature quintile but increased significantly in the other colder temperature quintiles (SIR in coldest quintile: 1.56; 95% CI: 1.47-1.66). BRA risk based on CCO design increased significantly with a decrease in temperature in detached houses (risk ratio [RR] for 3 °C: 1.25; 95% CI: 1.05-1.47), but not in apartment buildings (RR for 3 °C: 1.07; 95% CI: 0.86-1.34). CONCLUSIONS Detached houses had higher BRA incidence rates than apartments. Older age and lower temperatures, which are risk factors for BRAs, were more prevalent in detached houses than in apartment buildings. Thus, public health measures that focus on detached houses are necessary for preventing BRAs in Japan.
Humans ; Japan/epidemiology* ; Aged ; Middle Aged ; Housing/statistics & numerical data* ; Baths/adverse effects* ; Ambulances/statistics & numerical data* ; Male ; Adult ; Female ; Temperature ; Incidence ; Aged, 80 and over ; Young Adult ; Age Factors ; Adolescent ; Child, Preschool ; Infant ; Child ; Risk Factors ; Infant, Newborn ; Accidents, Home/statistics & numerical data*