Genetic defects in the mitochondrial aminoacyl-tRNA synthetase are important causes of mitochondrial disorders. VARS2 is one of the genes encoding aminoacyl-tRNA synthetases. Recently, an increasing number of pathogenic variants of VARS2 have been reported. We report the novel compound heterozygous pathogenic VARS2 mutations c.643 C > T (p. His215Tyr) and c.1354 A > G (p. Met452Val) in a female infant who presented with poor sucking at birth, poor activity, hyporeflexia, hypertonia, persistent pulmonary hypertension of newborn (PPHN), metabolic acidosis, severe lactic acidosis, expansion and hypertrophic cardiomyopathy. These heterozygous mutations were carried individually by the proband’s parents and elder sister; the two mutations segregated in the family and were the cause of the disease in the proband.The c.643 C > T (p. His215Tyr) mutation was not described in the ExaC, GNomAD and 1000 Genomes Project databases, and the frequency of c.1354 A > G (p. Met452Val) was < 0.001 in these gene databases.The two mutated amino acids were located in a highly conserved region of the VARS2 protein that is important for its interaction with the cognate tRNA. The two missense mutations were predicted by online tools to be damaging and deleterious. Our report expands the spectrum of known pathogenicVARS2 variants associated with mitochondrial disorders in humans.VARS2 deficiency may cause a severe neonatal presentation with structural cardiac abnormalities.

Bacterial pathogens are a major cause of childhood community acquired lower respiratory tract infections (CA-LRTIs), and few data described the impact of antimicrobial resistance on children with CA-LRTIs. This study aims to investigate the antimicrobial resistance in common bacterial agents among hospitalized children with CA-LRTIs between 2011 and 2016 in Dongguan, China. Sputum samples were collected from hospitalized children (0–5 years old) with CA-LRTIs in Dongguan Children’s Hospital. Bacterial pathogens were detected using traditional culture methods, and disc diffusion tests were used to determine antibiotic resistance. Among the 2360 samples analyzed, 342 (14.5%) were positive for bacterial infection. The most prevalent pathogen was MSSA (2.3%), followed by MRSA (1.5%), E. coli (1.7%), E. coli ESBLs (1.2%), K. pneumonia ESBLs (1.5%), K. pneumonia (1.4%) and S. pneumonia (1.3%). Of the hospitalized patients with bacteria causing of CA-LRTIs, 90.1% were less than 1-year-old. MSSA and MRSA were more commonly isolated in infants less than 3 months. E. coli, K. pneumonia and K. pneumonia ESBLs were more common bacteria causing CA-LRTIs in infants less than 1 month. Resistance levels to penicillins, fluoroquinolones, macrolides, cephalosporins, carbapenems and vancomycin varied in different bacteria. S. aureus, E coli and K. pneumonia were the common bacterial isolates recovered from chidren with CA-LTRIs during 2011–2015. Age group of under 1 year old was at a high risk of bacterial infections. Many isolates showed antibiotic resistance level was associated with antibiotic usage in clinic. Increasing surveillance of antibiotic resistance is urgently needed and develops better strategies to cure the antibiotic abuse in China.

Background: Necrotizing enterocolitis (NEC) is a severe inflammatory bowel disease that may lead to perforation, causing high morbidity and mortality in preterm infants. Abdominal ultrasound (AUS) has been shown to provide benefits in diagnosing and managing NEC in recent years.Objective: This study focused on the utility of AUS in the diagnosis and evaluation of surgical NEC.Patients and methods: In this retrospective study, available data of the patients diagnosed from January 2019 to June 2022 were reviewed. The sensitivity and specificity of AUS in diagnosing a perforation were analyzed. Typical cases for the application of AUS in monitoring and evaluating the progression, complications, and sequela of NEC were described.Results: There were 69 neonates diagnosed with NEC and examined by AUS, of whom eight patients developed a perforation. AUS was used for diagnosing a perforation in eight patients with key features of pneumoperitoneum and/or complex ascites, allowing us to find four locations of perforation, with a sensitivity and specificity of 100%.Conclusion: AUS plays an important role in diagnosing and evaluating surgical NEC in newborn infants, with good sensitivity and specificity.

Lung ultrasound (LUS) can be used to diagnose various neonatal lung diseases. It more sensitively diagnoses pulmonary edema, pneumothorax, pulmonary consolidation, and atelectasis than traditional X-ray and quickly determines the cause of dyspnea. As a component of severe ultrasound, LUS enables rapid bedside visualization of lung diseases and plays a major role in guiding the differential diagnosis of disease, ventilator treatment, and lung recruitment. This study introduced the application of LUS in the diagnosis and treatment of critically ill neonates with lung diseases.

Background: Osteogenesis Imperfecta (OI) poses a unique challenge in pediatric trauma and critical care, where the fragility of bone intersects with life-threatening systemic complications, such as neonatal respiratory failure. The early postnatal period is particularly precarious, demanding a delicate balance between life support and fracture prevention. Case presentation: A 9-day-old male neonate with prenatally diagnosed COL1A2 (c.1459G > A, p.Gly487Arg) mutation was admitted to our NICU for respiratory distress and pneumonia. He was the progeny of a father with OI, delivered via cesarean section at 34 weeks due to fetal skeletal deformities. Management and outcomes: A proactive, multidisciplinary team (MDT) protocol was immediately implemented, focusing on non-invasive respiratory support, meticulous handling to prevent iatrogenic injury, and optimized nutrition. This approach successfully resolved his respiratory failure without any new fractures during the NICU stay. However, on the 16th day post-discharge, the infant sustained a spontaneous fracture of the right proximal femur. This was managed conservatively with a Pavlik harness. Follow-up revealed rapid callus formation by day 52 and complete union by day 136, showcasing the characteristic hyperplastic healing pattern of OI. Conclusion: This case underscores that a coordinated MDT approach is vital for stabilizing critically ill neonates with OI. The occurrence of a fracture shortly after discharge highlights the transition to home care as a period of extreme vulnerability. Empowering families with comprehensive education and ensuring continuity of care are as crucial as in-hospital management for improving long-term outcomes in these fragile infants.

Objective: This study sought to analyze the value of point of care ultrasound (POCUS) in early diagnosis and monitoring of deep abscess in newborns.Methods: Retrospective analysis of the clinical data of two newborns admitted to the Neonatal Intensive Care Unit (NICU) of our hospital and diagnosed with deep abscess of the newborn. Combined with literature analysis, the value of POCUS in early diagnosis and monitoring of deep abscess of the newborn was evaluated.Results: The two newborns reported in this article were all admitted to NICU due to” “fever”. POCUS was used to assist in early diagnosis of “liver abscess” and “lung abscess”. Subsequently, POCUS was used to monitor lesion changes and adjust treatment plans. All patients were cured and discharged with a good prognosis.Conclusions: Deep abscesses in newborns are very rare and often life-threatening, but apart from fever, they often have no specific clinical manifestations and are easily misdiagnosed or missed. POCUS, as a bedside auxiliary examination tool, has high accuracy, radiation free, non-invasive, and convenient, and has high diagnostic and monitoring value in early diagnosis and monitoring of deep abscess in newborns.