Introduction: Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with dysregulation of genes on chromosome 11p15.5. Infants with BWS can present with hyperinsulinemic hypoglycemia. There are also distinctive clinical features including macrosomia, macroglossia and visceromegaly that may raise suspicion of this diagnosis. Case: A preterm female infant of 30 weeks gestation with a birth weight of 1.87 kg (97th centile) had recurrent hypoglycemia in the neonatal period, requiring escalation to a maximum glucose infusion rate of 17.6 mg/kg/min. Hypoglycemia only resolved after starting intravenous glucagon infusion. Critical sampling during hypoglycemia revealed serum insulin 3.9 µU/mL (3–25 µU/mL), serum ketone 0.2 mmol/L, cortisol 3,053 nmol/L and growth hormone 16.2 ng/mL. These findings supported the diagnosis of non-ketotic hyperinsulinemic hypoglycemia. She was commenced on oral diazoxide with resolution of hypoglycemia and discontinuation of glucagon. Examination at birth revealed macroglossia, hepatomegaly and ballotable kidneys. An initial US abdomen at birth revealed bilateral enlarged kidneys but normal liver. An initial chromosomal study revealed karyotype 46, XX. Over time, additional clinical features became evident fulfilling the diagnostic criteria for BWS, that is, polyhydramnios, large for gestational age, transient hypoglycemia, hyperinsulinism, macroglossia, hemihypertrophy, facial nevi, bilateral ear creases, hepatomegaly and ballotable kidney. A repeat US abdomen surveillance at 4 months old revealed a heterogeneous liver mass with marked vascularity, prompting a diagnosis of hepatic hemangioma. She was commenced on oral propranolol, with reduction in the size and vascularity of the liver hemangioma and decline in alpha-fetoprotein levels. Conclusion The clinical features of BWS may not be recognizable in a preterm baby in early neonatal period. Careful clinical examination should be done in a baby with persistent hyperinsulinemic hypoglycemia for underlying syndromal causes. US surveillance should also be carried out due to increased risk of hepatoblastoma or liver hemangioma in BWS, as was seen in this case.
Infant, Newborn ; Infant ; Beckwith-Wiedemann Syndrome ; Infant, Premature ; Hypoglycemia

OBJECTIVE: To explore the clinical characteristics and genetic variant in a premature infant with Netherton syndrome (NS). METHODS: A neonate with NS caused by variants of SPINK5 gene diagnosed at the Children's Hospital Affiliated to Zhejiang University School of Medicine in March 2020 was selected as the study subject. Clinical data and family history were collected. Peripheral blood samples (2 mL each) were obtained from the child and her parents for whole-exome sequencing (WES). Candidate variants were subjected to pathogenicity classification and deleteriousness evaluation. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No. 2024-IRB-0251-P-01). RESULTS: The infant was born prematurely at 35⁺³ weeks due to "premature rupture of membranes for 4 hours" and exhibited generalized skin peeling, with meconium-stained amniotic fluid resembling bean curd residue. The condition improved with supportive treatments such as anti-infection and moisturizing therapy, though periodic hair loss had persisted. No similar case was reported by family history. WES has revealed a heterozygous c.1130delG (p.G377Efs*127) variant in exon 14 of the SPINK5 gene, which was inherited from her mother, and deletion of exons 1 ~ 33 of the SPINK5 gene, which was inherited from her father. CONCLUSION This case of NS presented with intrauterine onset in a preterm infant, which has not been previously reported. The identification of c.1130delG (p.G377Efs*127) variant has expanded the mutation spectrum of the SPINK5 gene.
Humans ; Serine Peptidase Inhibitor Kazal-Type 5/genetics* ; Netherton Syndrome/genetics* ; Female ; Infant, Newborn ; Infant, Premature ; Mutation ; Exome Sequencing ; Male

OBJECTIVE

Preterm birth is a major cause of complications leading to death of children under 5 years old. Infections are important to be identified because antimicrobial treatment may prevent or delay progression to preterm delivery. This study determined if routine screening tests of infections are useful in the clinical management of preterm labor.

A cross-sectional (descriptive) study was done involving 417 pregnant patients who had preterm labor and was subsequently admitted from 2015 to 2019 at a tertiary hospital in the Philippines, using review of past medical records, inpatient charts, and admission charts.

Majority of the patients delivered at less than 34 weeks, most of the culture results turned out negative, and urine tests were more commonly employed as screening tests for preterm labor. The endocervical and rectovaginal swab studies had no significant growths. Asymptomatic bacteriuria was diagnosed in 1 out of 10 patients and they were subsequently started on antibiotic treatment. Majority of the patients who were given antibiotics delivered within 48 hours from admission. 

The routine use of cultures in the assessment of preterm labor is costly and is unlikely to be helpful in the clinical management of patients in preterm labor.

BACKGROUND: Hospitalization in neonatal intensive care units (NICU) exposes preterm infants to adverse stimuli, including continuous 24-hour lighting. There is currently no standardized NICU layout advised for the best development of preterm neonates. This meta-analysis aimed to assess the impact of cycled light (CL) exposure on clinical outcomes in premature infants admitted to NICU as synthesized in previous studies. MATERIALS AND METHODS: This meta-analysis protocol was developed following the preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) statement. A search was performed in PubMed/MEDLINE, EMBASE, Scopus, and Cochrane databases using the MeSH/key words: ―light exposure‖ AND pre-term AND cycled AND (RCT OR trials OR ―randomized controlled trial). The pooled Mean Difference with corresponding 95% CI was computed for weight gain, duration until start of enteral feeding, and duration of ICU stay using the Mantel–Haenszel random-effect model. RESULTS: Nine studies were included. The pooled mean difference showed that among preterm infants who had cycled light exposure, average daily weight gain (MD=6.24 grams, 95%CI=1.36 to 11.13, p=0.01) was significantly higher than those with continuous light exposure. The average time to start enteral feeding (MD=-3.84 days, 95%CI=-7.56 to -0.13, p=0.04) and average ICU stay (MD=-8.43 days, 95%CI=-12.54 to -4.31, p<0.0001) among neonates who had cycled light exposure were significantly shorter. CONCLUSION Benefits were seen in preterm infants when exposed to cycled light as opposed to continuous light. CL exposed infants showed a daily weight gain that was 6.24 grams higher, on average, and began enteral feeding nearly 4 days sooner. It led to a decrease in the duration of ICU stay by around 8 to 9 days on average. Further trials to determine the impact of cycled light exposure on morbidity and mortality among preterm neonates is recommended.
Human ; Male,Female ; Systematic review ; Meta-analysis ; Infant, Premature ; Intensive care units, Neonatal ; Intensive care, Neonatal ; Light ; Lighting ; Critical care

INTRODUCTION

Neonatal sepsis is a significant cause of morbidity and mortality, particularly among preterm infants, and remains a pressing global health concern. Early-onset neonatal sepsis is particularly challenging to diagnose due to its nonspecific clinical presentation, necessitating effective and timely diagnostic tools to reduce adverse outcomes. Traditional methods, such as microbial cultures, are slow and often unavailable in resource-limited settings. This study aimed to develop a robust multivariable risk prediction model tailored to improve early detection of Early Onset Sepsis (EOS) among preterm infants in the Philippines.

We conducted a retrospective analysis at a tertiary hospital in the Philippines using data from 1,354 preterm infants admitted between January 2019 and June 2024. Logistic regression models were employed, and predictors were selected through reverse stepwise elimination. Two scoring methods were developed: one based on beta coefficients divided by standard errors and another standardized to a total score of 100. The models were validated using Receiver Operator Characteristic curve analysis.

Version 1 of the scoring model demonstrated an Area Under the Curve (AUC) of 0.991, with a sensitivity of 90.91% and a specificity of 98.10%. Version 2 achieved an AUC of 0.999, with a sensitivity of 96.4% and a specificity of 92.44%.

The developed models provide a reliable, region specific tool for early detection of neonatal sepsis. Further validation across diverse populations and the integration of emerging diagnostic technologies, such as biomarkers and artificial intelligence, are warranted to enhance their applicability and accuracy.

OBJECTIVE: To observe the clinical efficacy of wrist-ankle acupuncture in the treatment of functional frequent premature ventricular contractions (PVCs). METHODS: A total of 64 patients with functional frequent PVCs were randomly divided into an observation group and a control group, 32 cases in each group. The observation group was treated with wrist-ankle acupuncture at bilateral upper 1 and upper 2 on the wrist. The control group received sham acupuncture at the same points as the observation group. Both groups were treated once every day from Monday to Friday, with the needles retained for 60 min each time, for a total of 4 weeks. The TCM syndrome score, the 24-hour PVC count, and MOS 36-item short form health survey (SF-36) score were compared between the two groups before and after treatment, and the clinical efficacy was evaluated after treatment. RESULTS: After treatment, the TCM syndrome scores and the 24-hour PVC counts in both groups were reduced compared with those before treatment (P<0.01), and the above indexes in the observation group were lower than those in the control group (P<0.01). After treatment，scores of all SF-36 items in the observation group were increased compared with those before treatment (P<0.01); in the control group, the scores of general health (GH), social function (SF) and role-emotional (RE) were increased compared with those before treatment (P<0.05). After treatment, scores of all SF-36 items in the observation group were higher than those in the control group (P<0.01). The total effective rate in the observation group was 90.6% (29/32), which was higher than 46.9% (15/32) in the control group (P<0.01). CONCLUSION Wrist-ankle acupuncture has a significant clinical efficacy in the treatment of functional frequent PVCs. It can effectively improve symptoms such as chest tightness and palpitations, reduce 24-hour PVC count, and improve patients' quality of life.
Humans ; Acupuncture Therapy ; Male ; Female ; Middle Aged ; Adult ; Ventricular Premature Complexes/physiopathology* ; Ankle/physiopathology* ; Wrist/physiopathology* ; Acupuncture Points ; Treatment Outcome ; Aged ; Young Adult

INTRODUCTION: Preterm birth (PTB) remains a leading cause of perinatal morbidity and mortality worldwide. Understanding Singapore's PTB trends and associated risk factors can inform effective strategies for screening and intervention. This study analyses PTB trends in Singapore from 2017 to 2023, identifies risk factors in this multi-ethnic population and evaluates a predictive model for PTB. METHOD: A retrospective analysis of all PTBs between 22+0 and 36+6 weeks of gestation, from 1 January 2017 to 31 December 2023, was performed by extracting maternal and neonatal data from electronic medical records. These PTBs were taken from the registry of births for Singapore and SingHealth cluster data. Cochran- Armitage trend test and multinomial logistic regression were used. An extreme gradient boosting (XGBoost) model was developed to test and predict the risk of PTB. RESULTS: The PTB rate in Singapore did not show a significant change. However, there was modest downward trend in the SingHealth population from 11.3% to 10.2%, mainly in late spontaneous PTBs (sPTBs). sPTBs accounted for ∼60% of PTBs. Risk factors for very/extreme sPTB included Chinese ethnicity, age ≥35 years, body mass index (BMI) ≥23 kg/m², being unmarried, primiparity, twin pregnancy and maternal blood group AB. The XGBoost model achieved an area under the receiver operating characteristic curve of 0.75, indicating moderate ability to predict PTB. CONCLUSION The overall PTB rate in Singapore has not improved. This study underscores the importance of local factors, particularly advanced maternal age, BMI, primiparity, unmarried, Chinese ethnicity and maternal blood group AB influencing PTB risk. Artificial intelligence methods show promise in improving PTB risk stratification, ultimately supporting personalised care and intervention.
Humans ; Singapore/epidemiology* ; Retrospective Studies ; Female ; Risk Factors ; Premature Birth/ethnology* ; Pregnancy ; Adult ; Infant, Newborn ; Asian People/statistics & numerical data* ; Gestational Age ; Body Mass Index ; Maternal Age ; Logistic Models ; Ethnicity

Humans ; Infant, Premature ; Infant, Newborn ; Consensus ; Bottle Feeding ; Infant Nutritional Physiological Phenomena ; Enteral Nutrition/standards* ; China

Humans ; Infant, Premature ; Patient Discharge ; Infant, Newborn ; Consensus ; Quality of Life ; Aftercare ; Infant, Premature, Diseases/therapy* ; Follow-Up Studies