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

OBJECTIVES

This study determined the prevalence of BBD among toilet-trained children attending a tertiary hospital’s pediatric outpatient clinic, and to evaluate the effectiveness of standard urotherapy among affected children.

METHODS

A prospective interventional study was conducted among 144 toilet-trained children aged 7 to 12 years seen at the University of Santo Tomas Hospital outpatient clinic from August 2025 to September 2025. Sociodemographic data were collected, and BBD was screened using the validated Filipino version of the Dysfunctional Voiding Symptom Scores (DVSS) questionnaire. Children with BBD underwent standard urotherapy, which included behavioral and lifestyle interventions such as timed voiding, adequate hydration, constipation management and proper voiding posture. DVSS assessments were repeated at two and four weeks.

RESULTS

The overall prevalence of BBD was 22.9% (33 of 144). BBD was significantly more prevalent among females (31.88%) than males (14.67%) (adjusted OR = 2.96, 95% CI: 1.28–6.86; p = 0.011). At baseline, children with BBD had significantly higher mean total DVSS scores (9.15 ± 3.64) compared to those without (2.01 ± 1.80, pCONCLUSION

Standard urotherapy proved effective in reducing symptom scores within two weeks and resulted in complete clinical resolution after four weeks among those who continued therapy. Routine screenings for BBD using DVSS and early initiation of standard urotherapy in pediatric outpatient settings are recommended to prevent complications and improve children’s urinary and bowel health.

Human ; Child: 6-12 Yrs Old ; World Health Organization ; Outpatient Clinics, Hospital ; Mass Screening ; Tertiary Care Centers ; Constipation ; Ambulatory Care Facilities

BACKGROUND

This study was inspired by the increasing cases of Diabetes Mellitus II (DM II) and the drive to strengthen early detection and intervention. The study specifically examined the American Diabetes Association (ADA) Risk Screening Form to detect DM and its potential as a cost-effective alternative to the standard screening criteria using Fasting Plasma Glucose (FPG) and 2-hour Oral Glucose Tolerance Test (OGTT).

METHODOLOGY

It utilized observational, cross sectional, descriptive, comparative design conducted among 269 hospital employees in a tertiary hospital. All participants were examined using the ADA Risk Screening Form and underwent standard test of FPG and 2-hour OGTT. Mean and standard deviation, frequency and percentage, and Mann-Whitney test were used in the treatment of data.

RESULTS

The clinicodemographic profile of the employees showed that most of the personnel belonged to age old (66.5%). Among the employees, 159 were females (66.5%) and 110 were males (59.1%). Additionally, most of the
personnel do not have hypertension (73.2%) and are physically active (56.1%) however most were noted to be overweight
(48.3%) and have family history of diabetes (45%). Furthermore, majority of the females did not have a history of gestational
diabetes mellitus (37.2%). The results revealed that most of the personnel were identified under decreased risk using the
ADA screening form and are non-diabetic (79.18%) using the laboratory test, whereas those pre-diabetic and diabetic
accounted 13.38% and 7.43% respectively. The results showed sensitivity of ADA Risk Screening Tool for DM Type 2
alongside the results of FPG and OGTT 30.4 and 25.7 respectively, specificity (87.3, 87.7), positive predictive value (38.6,
44.2), negative predictive value (82.7, 75.7), and accuracy (75.5, 70.6). Lastly, the results revealed that the use of ADA
screening tool showed no difference with the use of FPG with p-value of 0.095 and OGTT with p-value of 0.118.

Human ; Male ; Female ; Adult: 25-44 Yrs Old ; Middle Aged: 45-64 Yrs Old ; Association ; Form ; Government ; Hospitals ; Mass Screening ; Occupational Groups ; Risk

OBJECTIVE: To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province. METHODS: A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Ethics Number: 2019 Medical Ethics Review No. 67). RESULTS: Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c.1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c.467G>A (p.Gly156Asp) and c.1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c.1297G>C (p.Ala433Pro) and c.1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms. CONCLUSION The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c.1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.
Humans ; Amino Acid Metabolism, Inborn Errors/epidemiology* ; Glutaryl-CoA Dehydrogenase/chemistry* ; Infant, Newborn ; Female ; Neonatal Screening/methods* ; Male ; Brain Diseases, Metabolic/epidemiology* ; China/epidemiology* ; Retrospective Studies ; Mutation ; Genetic Variation ; Glutarates

The five-year survival rate of gastric cancer in China is close to that in European and American countries but far lower than that in the Republic of Korea and Japan,which have established national gastric cancer screening systems.It is of great significance to build a high-quality gastric cancer screening system adaptive to China's national conditions.Due to the large number of people at risk of gastric cancer and uneven distribution of medical resources,it is still difficult for China to carry out a nationwide gastroscopy screening plan for gastric cancer.Gastric ultrasound,with painlessness,no radiation,and easy acceptance and popularization,could be used as one of the alternative methods for initial screening of gastric cancer.Based on two gastric ultrasound-related consensuses published in 2020,this consensus elaborates on the necessity,feasibility,and existing problems of conducting preliminary gastric cancer ultrasound screening in China by analyzing the gastric cancer screening strategies and the difficulties faced by nationwide gastric cancer screening.Furthermore,this consensus introduces the indications and contraindications of gastric ultrasound examination,requirements for the operator and the contrast agent,ultrasound standard section,essentials of scanning operations,and stomach ultrasound report and data system (Su-RADS) and proposes the relevant consensus opinions accordingly.After multiple rounds of discussions and voting by experts from multiple societies,a total of 17 consensus opinions have been formed on gastric ultrasound as a preliminary screening technique for gastric cancer,with the aim of standardizing the popularization of gastric ultrasound.In addition,the consensus calls for conducting nationwide multicenter prospective studies to improve the level of evidence and provide data support for the construction of a preliminary gastric cancer ultrasound screening system that is in line with China's national conditions.
Humans ; China ; Early Detection of Cancer/methods* ; Mass Screening ; Stomach/diagnostic imaging* ; Stomach Neoplasms/diagnostic imaging* ; Ultrasonography

OBJECTIVES: To evaluate the clinical value of next-generation sequencing (NGS) in neonatal disease screening, particularly its advantages when combined with tandem mass spectrometry (MS/MS). METHODS: A prospective study was conducted involving blood samples from 1 999 neonates born at the Shenzhen Guangming District People's Hospital, between May and August 2021. All samples were initially screened using MS/MS and fluorescence immunoassay, followed by NGS to detect high-frequency variation sites in 135 related pathogenic genes. Suspected positive variants were validated using Sanger sequencing or multiplex ligation-dependent probe amplification in family studies. RESULTS: No confirmed positive cases were found in the MS/MS analysis of the 1 999 neonates. Genetic screening identified 58 positive cases (2.90%), 732 carriers of pathogenic genes (36.62%), and 1 209 negative cases (60.48%). One case of neonatal intrahepatic cholestasis was diagnosed (0.05%, 1/1 999). Fluorescence immunoassay identified 39 cases of glucose-6-phosphate dehydrogenase (G6PD) deficiency (1.95%, 39/1 999), while genetic screening identified 43 cases of G6PD deficiency (2.15%, 43/1 999). The fluorescence immunoassay also detected 6 cases of hyperthyrotropinemia (0.30%, 6/1 999), all of whom carried DUOX2 gene variants. The top ten pathogenic gene carrier rates were G6PD (12.8%), DUOX2 (8.7%), HBB (8.2%), ATP7B (6.6%), GJB2 (5.7%), SLC26A4 (5.6%), PAH (5.6%), ACADSB (4.6%), SLC25A13 (4.2%), and SLC22A5 (4.1%). CONCLUSIONS NGS can serve as an effective complement to MS/MS, significantly improving the detection rate of inherited metabolic disorders in neonates. When combined with family validation, it enables precise diagnosis, particularly demonstrating complementary advantages in screening for monogenic diseases such as G6PD deficiency.
Humans ; Infant, Newborn ; High-Throughput Nucleotide Sequencing/methods* ; Neonatal Screening/methods* ; Tandem Mass Spectrometry ; Prospective Studies ; Female ; Male ; Infant, Newborn, Diseases/diagnosis* ; Genetic Testing

OBJECTIVES: To evaluate the application value of genetic newborn screening (gNBS) in the Yunnan region. METHODS: A prospective study was conducted with a random selection of 3 001 newborns born in the Yunnan region from February to December 2021. Traditional newborn screening (tNBS) was used to test biochemical indicators, and targeted next-generation sequencing was employed to screen 159 genes related to 156 diseases. Positive-screened newborns underwent validation and confirmation tests, and confirmed cases received standardized treatment and long-term follow-up. RESULTS: Among the 3 001 newborns, 166 (5.53%) were initially positive for genetic screening, and 1 435 (47.82%) were genetic carriers. The top ten genes with the highest variation frequency were GJB2 (21.29%), DUOX2 (7.27%), HBA (6.14%), GALC (3.63%), SLC12A3 (3.33%), HBB (3.03%), G6PD (2.94%), SLC25A13 (2.90%), PAH (2.73%), and UNC13D (2.68%). Among the initially positive newborns from tNBS and gNBS, 33 (1.10%) and 47 (1.57%) cases were confirmed, respectively. A total of 48 (1.60%) cases were confirmed using gNBS+tNBS. The receiver operating characteristic curve analysis demonstrated that the areas under the curve for tNBS, gNBS, and gNBS+tNBS in diagnosing diseases were 0.866, 0.982, and 0.968, respectively (P<0.05). DeLong's test showed that the area under the curve for gNBS and gNBS+tNBS was higher than that for tNBS (P<0.05). CONCLUSIONS gNBS can expand the range of disease detection, and its combined use with tNBS can significantly shorten diagnosis time, enabling early intervention and treatment.
Humans ; Infant, Newborn ; Neonatal Screening ; Genetic Testing ; Female ; Male ; Follow-Up Studies ; Prospective Studies ; China

OBJECTIVES: To develop a quality control indicator system for neonatal screening of inherited metabolic diseases in obstetric settings, so as to provide a standardized tool for quality control in clinical neonatal screening of inherited metabolic diseases. METHODS: From March to May 2024, a literature review combined with expert clinical experience was conducted to develop a preliminary questionnaire on quality control indicators for neonatal screening of inherited metabolic diseases. The final indicator system was established after two rounds of the Delphi method, and the Analytic Hierarchy Process was used to determine indicator weights. RESULTS: Sixteen questionnaires were distributed in each of the two consultation rounds, with a valid response rate of 100% for both. The expert authority coefficients were 0.863 and 0.876, respectively. Kendall's coefficient of concordance for the importance and feasibility of the indicators ranged from 0.091 to 0.125. The final indicator system comprised 3 primary indicators, 8 secondary indicators, and 28 tertiary indicators for neonatal screening of inherited metabolic diseases in obstetric settings. CONCLUSIONS The quality control indicator system developed using the Delphi method demonstrates a strong systematic structure, high clinical adaptability, and strong operability, and can be effectively applied to quality control in neonatal screening of inherited metabolic diseases in obstetric settings.
Humans ; Infant, Newborn ; Neonatal Screening/standards* ; Quality Control ; Metabolism, Inborn Errors/diagnosis* ; Metabolic Diseases/diagnosis* ; Delphi Technique ; Female ; Quality Indicators, Health Care ; Pregnancy

OBJECTIVES: To evaluate the clinical utility and translational potential of a remote jaundice monitoring system for home-based screening of neonatal hyperbilirubinemia. METHODS: A prospective self-controlled study was conducted, enrolling 538 newborns with gestational age ≥35 weeks, birth weight ≥2 000 g, and postnatal age ≤14 days at the Women's Hospital of Nanjing Medical University from March to October 2023. Four screening protocols with different predictive indicators were developed based on the Chinese Neonatal Transcutaneous Hourly Bilirubin Nomogram. The effectiveness of the system was evaluated, and the feasibility of using the remote jaundice monitoring system in actual home settings was analyzed. RESULTS: A total of 538 paired transcutaneous bilirubin (TcB) and total serum bilirubin (TSB) measurements showed a strong correlation (r=0.85, P<0.001), with 95.0% (511/538) of samples within the 95% limits of agreement. Using TcB ≥ the 95th percentile as the predictive indicator, the system achieved 100% sensitivity, 46.2% specificity, and an area under the receiver operating characteristic curve of 0.731 (95%CI: 0.682-0.780). This approach could reduce unnecessary hospital visits by 41.4% (221/538). CONCLUSIONS The system integrates the QBH-801 transcutaneous bilirubinometer, intelligent early warning, and remote guidance services, establishing a closed-loop "hospital-to-home" management model. It demonstrates high safety and feasibility, with significant clinical translational value.
Humans ; Infant, Newborn ; Female ; Male ; Bilirubin/blood* ; Feasibility Studies ; Prospective Studies ; Hyperbilirubinemia, Neonatal/diagnosis* ; Neonatal Screening/methods* ; Jaundice, Neonatal/diagnosis*

The prevalence of type 1 diabetes (T1DM) is increasing annually, and its complications seriously impair the quality of life of affected children. Early screening for T1DM helps reduce the occurrence of diabetic ketoacidosis, protect β-cell function, and delay disease onset in high-risk populations. This article summarizes current domestic and international screening technologies for T1DM. Screening methods remain centered on detection of diabetes-related antibodies and glycometabolic markers, while factors related to disease pathogenesis hold promise as sensitive screening markers. Expanding T1DM screening in China is expected to improve early diagnosis and treatment.
Diabetes Mellitus, Type 1/diagnosis* ; Humans ; Early Diagnosis ; Autoantibodies/blood* ; Mass Screening/methods*