2.Beckwith–Wiedemann Syndrome Presenting as Persistent Non-Ketotic Hypoglycemia in a Preterm Infant
Wan Nurzahiah Wan Zakaria ; Yee Lin Lee ; Sin Yin Gan ; Tong Wooi Ch&rsquo ; ng ; Zurina Zainudin
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):146-
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
3.Characteristics of changes in non-invasive hemodynamic parameters in neonates with septic shock.
Xiaoyi FANG ; Jinzhi XIE ; Airun ZHANG ; Guanming LI ; Silan YANG ; Xiaoling HUANG ; Jizhong GUO ; Niyang LIN
Chinese Critical Care Medicine 2025;37(1):29-35
OBJECTIVE:
To observe the characteristics of changes in non-invasive hemodynamic parameters in neonates with septic shock so as to provide clinical reference for diagnosis and treatment.
METHODS:
A observational study was conducted. The neonates with sepsis complicated with septic shock or not admitted to neonatal intensive care unit (NICU) of the First Affiliated Hospital of Shantou University Medical College were enrolled as the study subjects, who were divided into preterm infant (< 37 weeks) and full-term infant (≥ 37 weeks) according to the gestational age. Healthy full-term infants and hemodynamically stable preterm infants transferring to NICU after birth were enrolled as controls. Electronic cardiometry (EC) was used to measure hemodynamic parameters, including heart rate (HR), mean arterial pressure (MAP), stroke volume (SV), stroke volume index (SVI), cardiac output (CO), cardiac index (CI), systemic vascular resistance (SVR) and systemic vascular resistance index (SVRI), before treatment in the septic shock group, at the time of diagnosis of sepsis in the sepsis without shock group, and before the discharge from the obstetric department or on the day of transferring to NICU in the control group.
RESULTS:
Finally, 113 neonates with complete data and parental consent for non-invasive hemodynamic monitoring were enrolled, including 32 cases in the septic shock group, 25 cases in the sepsis without shock group and 56 cases in the control group. In the septic shock group, there were 17 cases at the compensated stage and 15 cases at the decompensated stage. There were 21 full-term infants (20 cured or improved and 1 died) and 11 premature infants (7 cured or improved and 4 died), with the mortality of 15.62% (5/32). There were 18 full-term infants and 7 premature infants in the sepsis without shock group and all cured or improved without death. The control group included 28 full-term infants and 28 premature infants transferring to NICU after birth. Non-invasive hemodynamic parameter analysis showed that SV, SVI, CO and CI of full-term infants in the septic shock group were significantly lower than those in the sepsis without shock group and control group [SV (mL): 3.52±0.99 vs. 5.79±1.32, 5.22±1.02, SVI (mL/m2): 16.80 (15.05, 19.65) vs. 27.00 (22.00, 32.00), 27.00 (23.00, 29.75), CO (L/min): 0.52±0.17 vs. 0.80±0.14, 0.72±0.12, CI (mL×s-1×m-2): 40.00 (36.67, 49.18) vs. 62.51 (56.34, 70.85), 60.01 (53.34, 69.68), all P < 0.05], while SVR and SVRI were significantly higher than those in the sepsis without shock group and control group [SVR (kPa×s×L-1): 773.46±291.96 vs. 524.17±84.76, 549.38±72.36, SVRI (kPa×s×L-1×m-2): 149.27±51.76 vs. 108.12±12.66, 107.81±11.87, all P < 0.05]. MAP, SV, SVI, CO and CI of preterm infants in the septic shock group were significantly lower than those in the control group [MAP (mmHg, 1 mmHg ≈ 0.133 kPa): 38.55±10.48 vs. 47.46±2.85, SV (mL): 2.45 (1.36, 3.58) vs. 3.96 (3.56, 4.49), SVI (mL/m2): 17.60 (14.20, 25.00) vs. 25.50 (24.00, 29.00), CO (L/min): 0.32 (0.24, 0.63) vs. 0.56 (0.49, 0.63), CI (mL×s-1×m-2): 40.01 (33.34, 53.34) vs. 61.68 (56.68, 63.35), all P < 0.05], while SVR and SVRI were similar to the control group [SVR (kPa×s×L-1): 1 082.88±689.39 vs. 656.63±118.83, SVRI (kPa×s×L-1×m-2): 126.00±61.50 vs. 102.37±11.68, both P > 0.05]. Further analysis showed that SV, SVI and CI of neonates at the compensation stage in the septic shock group were significantly lower than those in the control group [SV (mL): 3.60±1.29 vs. 4.73±1.15, SVI (mL/m2): 19.20±8.33 vs. 26.34±3.91, CI (mL×s-1×m-2): 46.51±20.34 vs. 61.01±7.67, all P < 0.05], while MAP, SVR and SVRI were significantly higher than those in the control group [MAP (mmHg): 52.06±8.61 vs. 48.54±3.21, SVR (kPa×s×L-1): 874.95±318.70 vs. 603.01±111.49, SVRI (kPa×s×L-1×m-2): 165.07±54.90 vs. 105.09±11.99, all P < 0.05]; MAP, SV, SVI, CO and CI of neonates at the decompensated stage in the septic shock group were significantly lower than those in the control group [MAP (mmHg): 35.13±6.08 vs. 48.54±3.21, SV (mL): 2.89±1.17 vs. 4.73±1.15, SVI (mL/m2): 18.50±4.99 vs. 26.34±3.91, CO (L/min): 0.41±0.19 vs. 0.65±0.15, CI (mL×s-1×m-2): 43.34±14.17 vs. 61.01±7.67, all P < 0.05], while SVR and SVRI were similar to the control group [SVR (kPa×s×L-1): 885.49±628.04 vs. 603.01±111.49, SVRI (kPa×s×L-1×m-2): 114.29±43.54 vs. 105.09±11.99, both P > 0.05].
CONCLUSIONS
Full-term infant with septic shock exhibit a low cardiac output, high vascular resistance hemodynamic pattern, while preterm infant with septic shock show low cardiac output and normal vascular resistance. At the compensated stage the hemodynamic change is low output and high resistance type, while at the decompensated stage it is low output and normal resistance type. Non-invasive hemodynamic monitoring can assist in the identification of neonatal septic shock and provide basis for clinical diagnosis and treatment.
Humans
;
Shock, Septic/physiopathology*
;
Infant, Newborn
;
Hemodynamics
;
Female
;
Male
;
Case-Control Studies
;
Infant, Premature
4.Design of portable respiratory device for transporting premature infants and application in the in-hospital transportation of extremely premature infants in primary hospitals.
Lijuan ZHANG ; Shuiqin GU ; Ping ZHENG ; Xiaoyi JI ; Huafei HUANG
Chinese Critical Care Medicine 2025;37(7):684-687
OBJECTIVE:
To design a portable respiratory device for transporting premature infants and explore its application effect in the in-hospital transportation of extremely premature infants in primary hospitals.
METHODS:
A prospective randomized controlled trial was conducted. The extremely premature infants born and transferred to neonatal intensive care unit (NICU) with oxygen therapy support from May to October in 2023 were selected and randomly divided into control group and observation group. The infants in the control group received respiratory support and in-hospital transportation using a traditional T-combination resuscitator connected to pure oxygen, and those in the observation group used a portable premature infant transport respiratory device designed and manufactured by medical staff to provide respiratory support and implement in-hospital transportation. The respiratory device for transporting premature infants is made of 304 stainless steel material, mainly consisting of a T-combination resuscitator, an air oxygen mixer, an air tank, a pure oxygen cylinder, a pressure reducing valve, a telescopic rod, a tray, a hook, a bottom plate, and four moving wheels, which can achieve precise control of the fraction of inspired oxygen (FiO2) during transportation. The achievement rate of first-time target pulse oxygen saturation (SpO2, achieving a target SpO2 of 0.90-0.95 was considered as meeting the standard) and arterial partial pressure of oxygen (PaO2) after being transferred to the NICU, as well as the manpower expenditure and time required for transportation of pediatric patients between the two groups were observed.
RESULTS:
A total of 73 extremely premature infants were enrolled, including 38 in the control group and 35 in the observation group. There was no significant difference in the gender, gestational age at birth, birth weight, mode of delivery, Apgar score at 1 minute and 5 minutes after birth, and oxygen therapy during the transportation between the two groups. The achievement rate of first-time target SpO2 after NICU in the observation group was significantly higher than that in the control group [94.29% (33/35) vs. 26.32% (10/38), P < 0.05], the PaO2 control range was better [mmHg (1 mmHg = 0.133 kPa): 85.50±6.36 vs. 103.00±2.83, P < 0.05], manpower expenditure and time required for transportation were significantly reduced [manpower expenditure (number): 2.14±0.35 vs. 3.17±0.34, time required for transportation (minutes): 10.42±0.76 vs. 15.54±0.34, both P < 0.05].
CONCLUSIONS
The portable respiratory device for transporting premature infants is used for respiratory support during the transportation of extremely premature infants in primary hospitals. It can improve the achievement rate of target SpO2, control PaO2 within the target range, and avoid hypoxia or hyperoxia during transportation. The breathing apparatus is compact, easy to carry, can save labor resources and time during transport, is cost-effective, and is suitable for widespread application in primary hospitals.
Humans
;
Infant, Newborn
;
Transportation of Patients
;
Prospective Studies
;
Equipment Design
;
Infant, Extremely Premature
;
Intensive Care Units, Neonatal
;
Infant, Premature
5.Research Progress in Effect of Repetitive Noxious Stimuli in Neonatal Period on Neural Development.
Yan LI ; Wen-Yu ZHANG ; Zhi XIAO ; Xing-Feng LIU
Acta Academiae Medicinae Sinicae 2025;47(5):843-849
The establishment and development of neonatal intensive care unit(NICU)have significantly increased the survival rate of premature infants.However,the diagnosis,treatment,and surgeries performed in NICU may expose neonates to more noxious stimuli.As the neonatal period is crucial for brain development,these noxious stimuli may cause irreversible damage to the neonatal nervous system.Existing clinical studies have shown that repetitive noxious stimuli during the neonatal period can lead to poor brain development,persistent hyperalgesia,and various sequelae.However,the underlying mechanisms remain unclear,and effective treatment methods are lacking.This article summarizes the effects of repetitive noxious stimuli during the neonatal period on neural development and the complications,aiming to provide a basis for the neonatal analgesia management and the prevention and treatment of related sequelae.
Humans
;
Infant, Newborn
;
Brain/growth & development*
;
Infant, Premature
;
Intensive Care Units, Neonatal
;
Hyperalgesia
;
Pain
8.Research advances in the mechanism of Toll-like receptor 4 mediated intestinal injury and inflammatory response in necrotizing enterocolitis.
Chinese Journal of Cellular and Molecular Immunology 2025;41(1):57-63
Necrotizing enterocolitis (NEC) is an intestinal inflammatory and necrotic disease seen in premature infants, and remains the leading cause of death resulted from gastrointestinal diseases in premature infants. The specific pathogenesis of NEC is still unclear. In recent years, a lot of studies have reported that Toll-like receptor 4 (TLR4) plays a key role in the pathogenesis of NEC. TLR4, which is abundantly expressed in intestinal epithelial cells of premature infants, binds to bacterial lipopolysaccharide (LPS) to activate downstream signaling pathways, leading to disruption of intestinal epithelial integrity and bacterial translocation, resulting in intestinal ischemic necrosis and inflammatory responses, which may rapidly progress to severe sepsis, multiple organ dysfunction, and death. This paper reviews the mechanism of TLR4-related signaling pathways in intestinal epithelial injury and inflammatory responses in newborns with NEC, providing a reference to study new therapeutic targets for NEC.
Enterocolitis, Necrotizing/pathology*
;
Toll-Like Receptor 4/metabolism*
;
Humans
;
Infant, Newborn
;
Signal Transduction
;
Inflammation/metabolism*
;
Animals
;
Intestines/immunology*
;
Intestinal Mucosa/pathology*
;
Infant, Premature
9.Clinical practice guidelines for the diagnosis and treatment of anemia of prematurity (2025).
Chinese Journal of Contemporary Pediatrics 2025;27(1):1-17
Anemia of prematurity (AOP) is a multifactorial condition associated with congenital iron deficiency, low erythropoietin levels, a short lifespan of red blood cells, and iatrogenic blood loss. AOP is a common complication in premature infants that can adversely affect growth, development, and long-term neurocognitive outcomes. To standardize the diagnosis and treatment of AOP, the Neonatal Clinical Practice Guidelines Expert Committee and the Neonatal Evidence-Based Medicine Group of the Commission of Neonatal Medicine of the Cross-Strait Medical and Health Exchange Association, along with the Editorial Office of the Chinese Journal of Contemporary Pediatrics, have developed the "Clinical practice guidelines for the diagnosis and treatment of anemia of prematurity (2025)", based on the World Health Organization's handbook for guideline development and the formulation/revision principles of Chinese clinical practice guidelines. This guideline addresses eight clinical issues related to AOP, including risk factors, early identification, etiological diagnosis, diagnostic criteria, early prevention, transfusion therapy, strategies to improve prognosis, and post-discharge follow-up. It presents 29 recommendations formed from current evidence and expert consensus, aiming to provide guidance and decision-making support for healthcare professionals in the diagnosis and treatment of AOP.
Humans
;
Infant, Newborn
;
Infant, Premature
;
Anemia, Neonatal/diagnosis*
;
Anemia/diagnosis*
;
Practice Guidelines as Topic
10.A quality improvement study on improving the follow-up rate of preterm infants after discharge.
He-Sheng CHANG ; Xue YANG ; Jun JU ; Wen-Ya XU ; Di WU ; Xiao-Man WAN ; Zheng-Hong LI
Chinese Journal of Contemporary Pediatrics 2025;27(2):148-154
OBJECTIVES:
To explore the measures to improve the follow-up rate of preterm infants after discharge, and to evaluate the effectiveness of these measures using quality improvement methodology.
METHODS:
The follow-up status of preterm infants discharged from March to May 2017 was used as the baseline before quality improvement, and a specific quality improvement goal for the follow-up rate was proposed. The Pareto chart was used to analyze the causes of follow-up failure, and a key driver diagram was constructed based on the links involved in improving follow-up rate. The causes of failure were analyzed to determine the key links and intervention measures for quality improvement, and the follow-up rate was monitored weekly using a control chart until the quality improvement goal was achieved.
RESULTS:
The follow-up rate of preterm infants after discharge was 57.92% (117/202) at baseline before quality improvement, and the quality improvement goal was set to increase the follow-up rate of preterm infants from baseline to more than 80% within 12 months. The Pareto chart analysis showed that the main causes of follow-up failure were deficiencies in follow-up file management and irregular follow-up times (33.70%, 31/92), insufficient follow-up education and poor communication (25.00%, 23/92), and the inability to meet the diverse needs of parents (18.48%, 17/92). Based on the key links for quality improvement and the main causes of follow-up failure, the following intervention measures were adopted: (1) strengthen follow-up publicity and education; (2) build a follow-up team; and (3) establish a follow-up platform and system. The control chart indicated that with the implementation of the above intervention measures, the weekly follow-up rate increased to 74.09% (306/413) in July 2017 and 83.09% (511/615) in December 2017, finally achieving the quality improvement goal. During the COVID-19 pandemic, the follow-up rate of preterm infants fluctuated between 23.54% (460/1 954) and 70.97% (1 931/2 721), and subsequently, it returned to pre-pandemic levels starting in February 2023.
CONCLUSIONS
The application of quality improvement methodology can help to formulate intervention measures based on the main causes of follow-up failure, thereby improving the follow-up rate of preterm infants after discharge. This quality improvement method is feasible and practical and thus holds promise for clinical application.
Humans
;
Quality Improvement
;
Infant, Premature
;
Infant, Newborn
;
Patient Discharge
;
Follow-Up Studies
;
Female
;
Male


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