1.Implication of newborn Short-chain Acyl-CoA dehydrogenase deficiency screening and follow-up in Hainan Province for newborn screening strategies.
Peizhen ZHAO ; Zhendong ZHAO ; Haizhu XU
Chinese Journal of Medical Genetics 2026;43(4):248-252
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
2.Screening and management of bladder and bowel dysfunction among toilet trained children in a general pediatric outpatient clinic of a Tertiary Hospital using standard urotherapy: Prospective interventional study.
Melanie O. UY MATIAO ; Maria Rosario F. CABANSAG ; Remedios D. CHAN ; Maria Margarita M. ROMANO ; Jemely M. PUNZALAN ; Dennis FLORES ; David C T. BOLONG
Journal of Medicine University of Santo Tomas 2026;10(1):1862-1872
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.
METHODSA 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.
RESULTSThe 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
3.Validation of the american diabetes association risk screening form in a Tertiary Government Hospital employees.
Francis P. BESAS ; Monikka PASAWA
Philippine Journal of Internal Medicine 2026;64(1):33-42
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).
METHODOLOGYIt 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.
RESULTSThe 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
4.Predictive factors of transient congenital hypothyroidism among Filipino children: A retrospective study.
Lorna R. ABAD ; Ebner Bon G. MACEDA ; Angela Marie D. LEYCO ; Sylvia C. ESTRADA
Acta Medica Philippina 2025;59(17):76-85
BACKGROUND AND OBJECTIVE
Transient congenital hypothyroidism (TCH) refers to temporary deficiency of thyroid hormone identified after birth which later recovers to improved thyroxine production. Its prevalence in the Philippines has not been reported in a large-scale study. Its diagnosis remains difficult due to its numerous possible etiologies. Identifying the predictive factors of TCH may aid in earlier diagnosis and decreased risk of overtreatment. This study aimed to determine the predictive factors for TCH in children with congenital hypothyroidism (CH) detected by newborn screening (NBS) in the Philippines from January 2010 to December 2017.
METHODSIn this multicenter retrospective cohort study involving 15 NBS continuity clinics in the Philippines, medical records were reviewed, and clinical and laboratory factors were compared between children with TCH and those with permanent congenital hypothyroidism (PCH). Of the 2,913 children diagnosed with CH in the Philippines from 2010 to 2017, 1,163 (39.92%) were excluded from the study due to an unrecalled or lost to follow-up status, or a concomitant diagnosis of Down Syndrome.
RESULTSAmong the 1,750 patients included in analysis, 6.97% were diagnosed with TCH, 60.80% were female, mean gestational age at birth was 38 weeks, and mean birth weight was 2,841 grams. Confirmatory thyrotropin (TSH) was lower and confirmatory free thyroxine (FT4) was higher in the TCH group compared to those with PCH (TSH 32.80 vs 86.65 µIU/mL [pCONCLUSION
Of all the patients with confirmed congenital hypothyroidism via the newborn screening, 6.97% were diagnosed with transient CH. Factors associated with TCH are confirmatory TSH and FT4, L-thyroxine dose requirements, thyroid ultrasound findings, gestational age at birth, and a maternal history of thyroid illness.
Human ; Congenital Hypothyroidism ; Philippines ; Neonatal Screening ; Prevalence
6.Establishment and application of a UPLC-MS/MS method for the determination of tiletamine and its metabolite in biological samples.
Zihao CAI ; Wenguang YAN ; Jiahao LI ; Yanjun DING ; Jiang LING
Journal of Central South University(Medical Sciences) 2025;50(6):1002-1012
OBJECTIVES:
Tiletamine, a veterinary anesthetic, has emerged as a novel psychoactive substance and has been abused in many parts of the world, causing great harm to public health. However, the sensitivity of existing detection methods cannot meet the needs of forensic practice. This study aims to establish an ultra-high-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) method for the determination of tiletamine and its metabolite desethyltiletamine in human biological samples, and to verify its applicability in forensic practice.
METHODS:
SKF525A was used as the internal standard. Biological samples were extracted with acetonitrile containing 1 ng/mL SKF525A, vortexed for 10 min, ultrasonicated for 20 min, centrifuged at 10 000 r/min for 10 min, and 500 μL of the supernatant was filtered through a 0.22 μm membrane. Analyses were performed using an ACQUITY UPLC H-Class PLUS system and an XEVO TQ-S Micro triple quadrupole mass spectrometer. An ACQUITY UPLC® BEH C18 (1.7 µm, 2.1 mm×100 mm) column at a flow rate of 0.3 mL/min was used, and four mobile phase systems were tested to optimize separation. Detection used positive electrospray ionization (ESI+) in multiple reaction monitoring (MRM) mode, with quantifier ion transitions of mass to charge 224.043→179.016 for tiletamine and mass to charge 196.08→151.06 for desethyltiletamine. Calibration curves were established over 0.1-200 ng/mL in spiked blood samples. The linear range, limit of detection (LOD), and limit of quantification (LOQ) were determined. Low (5 ng/mL), medium (20 ng/mL), and high (100 ng/mL) concentrations of tiletamine were spiked into blood, liver, and kidney to evaluate precision, accuracy, matrix effect, recovery, and stability. Finally, actual forensic case samples were tested to validate applicability.
RESULTS:
The established UPLC-MS/MS method achieved simultaneous detection of tiletamine and desethyltiletamine in human biological samples, with retention times of 3.42 min and 2.82 min, respectively. Using mobile phase A (20 mmol/L ammonium acetate and 0.1% formic acid in water) and mobile phase B (acetonitrile) produced the best separation. In blood, tiletamine showed good linearity from 0.1-200 ng/mL (r=0.992, R2=0.983), LOD 0.03 ng/mL, LOQ 0.1 ng/mL, recovery 92%-107%, and matrix effect 71%-99%. In liver and kidney, recoveries were 91%-98% and 93%-104%, and matrix effects were 69%-96% and 72%-100%, respectively. Intra- and inter-day precision [expressed as relative standard deviation (RSD)] and accuracy [expressed as relative error (RE)] were within 15%, and samples were stable at -20 ℃. Tiletamine was detected in actual case samples at 0.37 μg/mL (blood), 0.15 μg/g (liver), 0.11 μg/g (kidney) in case 1, and 8.75 ng/mL (blood) in case 2; desethyltiletamine was also detected in blood.
CONCLUSIONS
The UPLC-MS/MS method is efficient, accurate, and sensitive, and is suitable for detecting tiletamine and desethyltiletamine in human biological samples.
Tandem Mass Spectrometry/methods*
;
Humans
;
Chromatography, High Pressure Liquid/methods*
;
Substance Abuse Detection/methods*
;
Liquid Chromatography-Mass Spectrometry
7.Feasibility of MAGIC pure tone screening in children aged 3 to 6 years.
Qingjia CUI ; Fang GE ; Renjie HAN ; Jin YAN ; Cheng WEN ; Yue LI ; Xin DAI ; Lihui HUANG
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(1):14-18
Objective:To explore the feasibility of the multiple-choice auditory graphical interactive check(MAGIC) screening module in childhood hearing screening in children aged 3 to 6 years. Methods:A hearing screening was conducted on 366 children(732 ears) aged between 3 and 6 years. The screening methods included MAGIC, DPOAE, and acoustic immittance.The cooperation, screening time, pass rate, and correlation of the three screening methods were compared. Results:There was a statistically significant difference in the degree of cooperation among the three screeningmethods(P=0.004).The MAGIC pure tone screening method was 98.6%, the screening DPOAE was 99.5%,and the acoustic immittance screening was 100%. For the screening duration, the MAGIC pure tone screening method was(116.3±59.1)s, the screening DPOAE was(27.2±19.7)s, and the acoustic impedance screening was(24.6±14.6)s. There was a significant statistical significance differences among the three or two groups(P<0.01). The passing rates of MAGIC pure tone screening,screening DPOAE and acoustic immittance screening were 64.7%, 65.4%, and 69.3%, respectively, and there was no significant statistical difference among the three or two groups(P>0.05). There was no significant difference between MAGIC pure tone screening method and screening DPOAE(P=0.827>0.05), and acoustic impedance(P=0.653>0.05), while the difference between screening DPOAE and acoustic impedance was statistically significant(P<0.01). Conclusion:MAGIC pure sound screening method has good feasibility, can comprehensively reflect the hearing level of screened children, and can be promoted for hearing screening in children aged between 3 and 6 years.
Humans
;
Child, Preschool
;
Child
;
Female
;
Male
;
Audiometry, Pure-Tone
;
Mass Screening/methods*
;
Feasibility Studies
;
Acoustic Impedance Tests/methods*
;
Hearing Loss/diagnosis*
;
Hearing Tests/methods*
8.Expert consensus on endocrine hypertension screening (2025 version).
Chinese Journal of Internal Medicine 2025;64(4):288-301
Endocrine hypertension is a common form of secondary hypertension. Affected patients often present without specific symptoms or signs, making the condition easy to overlook or misdiagnose. Early screening can greatly enhance the level of diagnosis while prompt treatment can improve the prognosis of patients. Based on clinical evidence and practice, the Chinese Endocrinologist Association and the Chinese Endocrine Hypertension Collaboration Group reached this consensus after extensive discussions on target populations, screening methods, interpretation of screening results, and other issues related to endocrine hypertension.
Humans
;
Hypertension/diagnosis*
;
Consensus
;
Mass Screening
9.Chinese Expert Consensus on the Clinical Application of Ultrasound Screening for Gastric Cancer(2025 Edition).
Acta Academiae Medicinae Sinicae 2025;47(5):679-701
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
10.Predictive factors of transient congenital hypothyroidism among Filipino children: A retrospective study
Lorna R. Abad ; Ebner Bon G. Maceda ; Angela Marie D. Leyco ; Sylvia C. Estrada
Acta Medica Philippina 2025;59(Early Access 2025):1-10
BACKGROUND AND OBJECTIVE
Transient congenital hypothyroidism (TCH) refers to temporary deficiency of thyroid hormone identified after birth which later recovers to improved thyroxine production. Its prevalence in the Philippines has not been reported in a large-scale study. Its diagnosis remains difficult due to its numerous possible etiologies. Identifying the predictive factors of TCH may aid in earlier diagnosis and decreased risk of overtreatment. This study aimed to determine the predictive factors for TCH in children with congenital hypothyroidism (CH) detected by newborn screening (NBS) in the Philippines from January 2010 to December 2017.
METHODSIn this multicenter retrospective cohort study involving 15 NBS continuity clinics in the Philippines, medical records were reviewed, and clinical and laboratory factors were compared between children with TCH and those with permanent congenital hypothyroidism (PCH). Of the 2,913 children diagnosed with CH in the Philippines from 2010 to 2017, 1,163 (39.92%) were excluded from the study due to an unrecalled or lost to follow-up status, or a concomitant diagnosis of Down Syndrome.
RESULTSAmong the 1,750 patients included in analysis, 6.97% were diagnosed with TCH, 60.80% were female, mean gestational age at birth was 38 weeks, and mean birth weight was 2,841 grams. Confirmatory thyrotropin (TSH) was lower and confirmatory free thyroxine (FT4) was higher in the TCH group compared to those with PCH (TSH 32.80 vs 86.65 µIU/mL [p < 0.0001]; FT4 9.90 vs 7.37 pmol/L [p 0.001]). The TCH group required lower L-thyroxine doses compared to the PCH group at treatment initiation and at 1, 2, and 3 years of age (initial 6.98 vs 12.08 µg/ kg/day [p < 0.0001]; at 1 year 1.89 vs 4.11 µg/kg/day [p < 0.0001]; at 2 years 1.21 vs 3.72 µg/kg/day [p < 0.0001]; at 3 years 0.83 vs 3.45 µg/kg/day [p < 0.0001]). Among those with TCH, mean serum TSH decreased significantly after treatment with L-thyroxine (32.80 vs. 6.55 µIU/ mL, p 0.0001). Other factors associated with TCH were results of thyroid ultrasonography (p 0.007), gestational age at birth (p 0.02), and maternal history of thyroid illness (p < 0.0001).
CONCLUSIONOf all the patients with confirmed congenital hypothyroidism via the newborn screening, 6.97% were diagnosed with transient CH. Factors associated with TCH are confirmatory TSH and FT4, L-thyroxine dose requirements, thyroid ultrasound findings, gestational age at birth, and a maternal history of thyroid illness.
Human ; Congenital Hypothyroidism ; Philippines ; Neonatal Screening ; Prevalence


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