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.Components of Sarcopenia and Frailty in Relation to Cognitive Impairment in Older Adults: An Ambispective Cohort Study from a Tertiary Hospital
Jessica Marsigit ; Siti Setiati ; Tiara Aninditha ; Ikhwan Rinaldi ; Irsan Hasan ; Robert Sinto ; Noto Dwimartutie ; Suryo Anggoro Kusumo Wibowo ; Eric Daniel Tenda
Acta Medica Indonesiana 2026;58(1):67-76
Abstract
Background: Sarcopenia and frailty are common geriatric syndromes that may contribute to mild cognitive impairment (MCI). Evidence regarding the independent roles of individual sarcopenia components and frailty in MCI remains limited in low- and middle-income countries. This study evaluated the association between sarcopenia components, frailty, and MCI among older adults in Indonesia. Methods: An ambispective cohort study was conducted among adults aged ≥60 years attending the Geriatric Outpatient Clinic of Dr. Cipto Mangunkusumo National General Hospital, Jakarta. Sarcopenia components were assessed using SARC-Calf (low muscle mass indicator), handgrip strength, and the five-times sit-to-stand test. Frailty was evaluated using the FRAIL scale. Cognitive function was assessed using the Rapid Cognitive Screening. Multivariate log-binomial or Poisson regression with robust variance was used to estimate adjusted risk ratios (RRs) for MCI. Results: A total of 121 participants (median age 74 years; 68.6% female) were included, with an MCI prevalence of 21.5%. After adjustment for confounders, low muscle mass indicator (RR 2.206; 95% CI 1.045–4.652) and low muscle strength (RR 3.006; 95% CI 1.202–7.517) were independently associated with MCI. Low physical performance (RR 1.773; 95% CI 0.796–3.773) and frailty (RR 1.086; 95% CI 0.377–3.134) were not significantly associated with MCI. Conclusion: Low muscle mass indicators and reduced muscle strength were independently associated with MCI, supporting the integration of simple sarcopenia screening tools into routine geriatric cognitive assessment.
sarcopenia
;
frailty
;
mild cognitive impairment
;
rapid cognitive screening
5.Advancing breast cancer and lung cancer screening: Expert perspectives to advance programmes in Singapore.
Clive TAN ; Ern Yu TAN ; Geak Poh TAN ; Ravindran KANESVARAN
Annals of the Academy of Medicine, Singapore 2025;54(8):498-504
INTRODUCTION:
The high prevalence and mortality rates of breast cancer and lung cancer in Singapore necessitate robust screening programmes to enable early detection and intervention for improved patient outcomes, yet 2024 uptake and coverage remain suboptimal. This narrative review synthesises expert perspectives from a recent roundtable discussion and proposes strategies to advance breast cancer and lung cancer screening programmes.
METHOD:
A 2024 roundtable convened clinical practitioners, health policymakers, researchers and patient advocates discussed current challenges and opportunities for improving cancer screening in Singapore. Perspectives and insights were analysed to identify themes related to existing programme gaps, opportunities for innovation and implementation challenges.
DISCUSSION:
Singapore's national breast cancer screening programme has been in place for over 2 decades, yet screening uptake remains suboptimal. A national lung cancer screening programme, in contrast, is still in its early stages of implementation. Regardless, employment of risk stratification approaches that integrate genetic, demographic and lifestyle factors could enhance screening effectiveness by identifying high-risk indivi-duals, while also taking local epidemiological trends into consideration. Integration of digital health technologies, artificial intelligence and behavioural change models can enhance cancer screening uptake and accuracy to overcome barriers such as low awareness, cultural beliefs and socioeconomic factors that contribute to low participation rates.
CONCLUSION
Key recommendations include enhancing public awareness, refining screening guidelines, expanding access and applying innovative technologies. A coordinated effort among stakeholders is crucial to continually assess and enhance screening programmes to narrow the practice-policy gap and ultimately reduce breast cancer and lung cancer burden in Singapore.
Humans
;
Singapore/epidemiology*
;
Lung Neoplasms/epidemiology*
;
Breast Neoplasms/epidemiology*
;
Early Detection of Cancer/methods*
;
Female
;
Mass Screening/organization & administration*
6.Risk-based screening programmes for cancer diagnosis: A systematic review with narrative synthesis.
Yong Yi TAN ; Sara TASNIM ; Mohammad Fahmy Bin FADZIL ; Xin Rong NG ; Sabrina Kw WONG ; Jo-Anne Elizabeth MANSKI-NANKERVIS ; Joseph Jao-Yiu SUNG ; Joanne NGEOW
Annals of the Academy of Medicine, Singapore 2025;54(10):644-663
INTRODUCTION:
Risk-based screening (RBS) has emerged as a promising alternative to age-based cancer screening. However, evidence regarding real-world implementation outcomes remains fragmented. Thus, a systematic review was conducted to evaluate the implementation metho-dologies and outcomes of RBS programmes across different cancer types.
METHODS:
MEDLINE, Embase, CINAHL, Web of Science, Cochrane Central Register of Controlled Trials and Scopus were systematically searched from their respective dates of inception up to 8 July 2024. Prospective and rando-mised controlled trials (RCTs), which implement the RBS of cancer in an asymptomatic population, or studies retrospectively evaluating the outcomes of the same were included. Geographic distribution, population characteristics, RBS methodology, diagnostic accuracy and clinical outcomes were narratively synthesised.
RESULTS:
Among the 33 included studies (i.e. 21 prospective cohort, 8 RCTs, 3 retrospective and 1 non-RCT), sample sizes ranged from 102 to 1,429,890 participants. Most RBS trials were conducted in China (n=7, 21.2%), followed by the Netherlands (n=4, 12.1%) then the US, Australia and Sweden (n=3, 9.8%). Studies predominantly examined colorectal (27.3%), breast (21.2%) and prostate cancer (18.2%). Three main stratification approaches emerged: algorithmic (48.5%), validated risk models (39.4%) and physician assessment (9.1%). Implementation outcomes showed higher uptake in moderate-risk (75.4%) compared to high-risk (71.3%) and low-risk groups (67.9%). Five studies demonstrated cost-effectiveness with increased quality-adjusted life years, while 12 studies showed superior or non-inferior cancer detection rates compared to traditional screening.
CONCLUSION
The RBS of cancer has the potential to optimise healthcare resource allocation while minimising harm and increasing receptiveness for patients. More work is needed to evaluate long-term outcomes prior to the scaling of RBS programmes.
Humans
;
Early Detection of Cancer/methods*
;
Neoplasms/diagnosis*
;
Risk Assessment
;
Mass Screening/methods*
10.Establishment and application of a rapid high-throughput detection method for Huanglongbing.
Qin YUAN ; Zhi-Peng LI ; Tie-Lin WANG ; Ting DONG ; Yu-Wen YANG ; Wei GUAN ; Ting-Chang ZHAO
China Journal of Chinese Materia Medica 2025;50(7):1735-1740
The dried mature peel of Citrus reticulata, a plant in the Rutaceae family and its cultivated varieties, is a commonly used Chinese medicinal material known as Chenpi(Citri Reticulatae Pericarpium). It is rich in nutritional components and medicinal value, with pharmacological effects including relieving cough and eliminating phlegm, strengthening the spleen and drying dampness, protecting the liver and benefiting the stomach, tonifying Qi, and calming the mind. Huanglongbing(HLB), also known as Citrus Huanglongbing, is a destructive disease in citrus production that seriously threatens the development of the citrus industry. HLB causes symptoms such as the inability of Rutaceae plants to produce mature fruit, gradual weakening of the tree, and eventual death, posing a significant threat to the yield and quality of Chenpi. Due to the uneven distribution of the HLB pathogen in infected plants, accurate detection of the pathogen requires the collection of a large number of plant samples. Current sample pretreatment methods, such as traditional extraction methods and commercial extraction kits, are time-consuming and involve multiple steps, which significantly increase the difficulty and workload of HLB diagnosis and have become a bottleneck in HLB detection. In this study, a rapid high-throughput detection method combining alkali lysis and TaqMan qPCR was developed. This method allows the pretreatment of multiple samples within 5 min, and the entire detection process can be completed within 45 min, with a detection limit of 6.67 fg·μL~(-1). The alkali lysis method and commercial kits were used for parallel detection of field-collected citrus samples, and the results showed no significant difference. The sample pretreatment method established in this study is characterized by low cost, simplicity, and high efficiency. Combined with TaqMan qPCR, it can provide technical support for early and on-site diagnosis of HLB. This method is of great significance for disease prevention and control in the citrus industry and is expected to help improve the yield and quality of citrus medicinal materials.
Citrus/microbiology*
;
Plant Diseases/microbiology*
;
Rhizobiaceae/physiology*
;
High-Throughput Screening Assays/methods*
;
Liberibacter/physiology*


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