Guobing Chen

Background: Due to regional and economic disparities, the current status of care for extremely preterm infants (EPIs) varies across mainland China and remains incompletely characterized. This study aimed to evaluate the survival rate and major morbidities of EPIs in Shenzhen and to identify factors associated with survival without major morbidity. Methods: In this prospective multicenter study, clinical data of preterm infants with gestational age (GA) < 28 weeks from 21 hospitals in Shenzhen were collected between January 2022 and December 2023. Baseline characteristics, survival outcomes, and survival without major morbidity were analyzed according to seven GA groups (21–27 weeks). Morbidity analyses among surviving infants were performed using four GA groups (21–24, 25, 26, and 27 weeks). The primary outcome was survival status at discharge or at 40 weeks of postmenstrual age, and the secondary outcomes were the incidences of major morbidities. Results: A total of 314 EPIs were included, of whom 56 died following withdrawal of care, 24 died despite active treatment, and 234 survived, yielding an overall survival rate of 74.52% (234/314). Among all 314 EPIs, survival without major morbidity was achieved in 24.20% (76/314) of infants. Among the 234 surviving infants, the incidences of major morbidities were as follows: moderate-to-severe bronchopulmonary dysplasia (48.72%, 114/234), severe intraventricular hemorrhage and/or periventricular leukomalacia (13.25%, 31/234), necrotizing enterocolitis stage ≥ 2 (6.41%, 15/234), sepsis (22.65%, 53/234), and severe retinopathy of prematurity (42.31%, 99/234). Multivariable logistic regression analysis showed that antenatal corticosteroid (ACS) use (OR = 7.66), increasing GA (OR = 1.62), and higher birth weight (BW) (OR = 1.77) were independent protective factors for survival without major morbidity. Conclusion: This prospective multicenter study provides contemporary data on survival without major morbidity among EPIs in Shenzhen. Although overall survival was relatively high, survival without major morbidity remained limited, with substantial burdens of bronchopulmonary dysplasia and retinopathy of prematurity among survivors. ACS exposure, higher GA, and greater BW were significantly associated with survival without major morbidity.

Background: Bronchopulmonary dysplasia (BPD) is a common and serious complication in very preterm infants, with potential long-term adverse effects. This study aimed to analyze the perinatal and postnatal risk factors for BPD in preterm infants, and to develop and validate a risk model for early postnatal risk stratification based on information available within the first 7 days of life. Methods: Data on preterm infants with gestational age < 32 weeks were prospectively collected from 28 hospitals in Shenzhen from January 2022 to December 2023. Neonates admitted to the NICU of Peking University Shenzhen Hospital and Shenzhen People’s Hospital were designated as the external validation cohort, whereas those from the other 26 NICUs were randomly divided into training and internal validation cohorts in an 8:2 ratio. BPD was the primary outcome and was diagnosed based on the 2018 revised criteria. Predictive factors were identified from the training cohort using logistic regression, and a nomogram model was constructed. Model performance was evaluated in terms of discrimination, calibration, and potential clinical utility. Results: A total of 1,336 preterm infants were included, with 801 in the training cohort, 214 in the internal validation cohort, and 321 in the external validation cohort. Among them, 259 infants (19.39%) were diagnosed with BPD. The nomogram model was based on six predictive factors: gestational age, birth weight (per 100 g increase), occurrence of preterm premature rupture of membranes (PPROM), antenatal corticosteroid (ACS) administration, early onset sepsis, and invasive mechanical ventilation (IMV) within the first seven days of life. The area under the curve (AUC)s were 0.812, 0.783, and 0.810 in the training, internal validation, and external validation cohorts, respectively, indicating acceptable discrimination. Calibration showed reasonable agreement between predicted and observed outcomes. Decision curve analysis suggested potential net benefit across a range of threshold probabilities, although clinical interpretation remains exploratory. Conclusion: This nomogram provides early postnatal risk stratification of BPD based on routinely available clinical information within the first week of life and may help identify preterm infants at higher risk.

Rationale: Self-improving collodion baby (SICB) is a rare subtype of autosomal recessive congenital ichthyosis with distinct clinical features and generally favorable prognosis. This study aims to enhance understanding of SICB by examining its clinical characteristics and recent developments in diagnosis and management. Our findings provide insights that may aid in the etiological diagnosis and treatment of congenital ichthyosis. Patient concerns: We present a case of SICB treated at Peking University Shenzhen Hospital, characterized by the appearance of a collodion membrane at birth. The primary approach involved intensive moisturizing care to manage skin abnormalities. Diagnoses: Based on clinical examination and genetic testing, a diagnosis of SICB was confirmed, with mutations identified in genes commonly associated with autosomal recessive congenital ichthyosis, such as ALOX12B, TGM1, ALOXE3, CYP4F22, and PNPLA1. Outcomes: The patient showed significant improvement following targeted supportive care, consistent with the generally positive prognosis for SICB. Lessons: A comprehensive literature review of 31 SICB cases from 18 studies highlighted that the condition typically presents at birth with a collodion membrane. Intensive moisturizing is the main treatment, and early genetic testing is recommended to facilitate timely diagnosis and intervention. Early diagnosis can support effective genetic counseling and improve outcomes for newborns with ichthyosis.

Numerous studies have attempted to identify potential biomarkers for early detection of bronchopulmonary dysplasia (BPD) in preterm infants using metabolomics techniques. However, the presence of consistent evidence remains elusive. Our study aimed to conduct a systematic review and meta-analysis to identify differences in small-molecule metabolites between BPD and non-BPD preterm infants. Through meticulous screening of numerous samples, we identified promising candidates, providing valuable insights for future research. We searched PubMed, the Cochrane Library, Embase, Web of Science, China National Knowledge Internet, Wan-fang database, Chinese Science and Technique Journal Database and Chinese Biomedical Literature Database from inception until January 16, 2024. Studies were comprehensively reviewed against inclusion criteria. We included case-control studies and adhered to Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. Study quality was assessed with the Newcastle-Ottawa scale. We compared the changes in metabolite levels between the BPD and non-BPD preterm infants. A meta-analysis was conducted on targeted metabolomics research data based on the strategy of standardized mean differences (MD) and 95% confidence intervals (CI).Fifteen studies (1357 participants) were included. These clinical-based metabolomics studies clarified 110 differential metabolites between BPD and non-BPD preterm infants. The meta-analysis revealed higher glutamate concentration in the BPD group compared to the non-BPD group (MD = 1, 95% CI 0.59 to 1.41, p < 0.00001). Amino acids were identified as the key metabolites distinguishing preterm infants with and without BPD, with glutamate potentially serving as a BPD predictor in this population.

Objective . The current study aimed to explore the relationship between OSAS and hypertension and whether polysomnography (PSG) indices were independently associated with hypertension in patients with type 2 diabetes (T2DM). Methods . This study recruited 316 T2DM patients. Multivariable logistic regression analyses were performed to determine the independent association of apnea‐hypopnea index (AHI) and oxygen desaturation index (ODI) with hypertension with adjustment for potential confounders. Results . Among 316 patients, 130 (41.1%) and 204 (64.6%) had hypertension and OSAS, respectively. T2DM patients with hypertension showed significantly increased levels of AHI ((median (interquartile range)): 17.2 (5.7–34.9) vs. 5.7 (2.1–17.3) events/hour, p < 0.001), nonrapid eye movement AHI (NREM‐AHI) (17.6 (5.5–36.5) vs. 5.2 (2.2–16.6) events/hour, p < 0.001), ODI (48.4 (21.9–78.0) vs. 22.6 (10.8–48.1) events/hour, p < 0.001), and severities of OSAS and decreased levels of lowest SaO ₂ ((mean ± standard deviation): 74.0 ± 10.4 vs. 77.3 ± 9.8, p = 0.004). Multivariable logistic regression analysis showed that higher levels of AHI, NREM‐AHI, and ODI were significantly associated with increased risks of hypertension, and the adjusted odds ratios (ORs) with 95% CI were 1.026 (1.008–1.044, p = 0.004), 1.026 (1.009–1.044, p = 0.003), and 1.005 (1.001–1.010, p = 0.040), respectively. Compared with non‐OSAS, severe OSAS was significantly associated with the risk of hypertension with the adjusted OR (95% CI) of 3.626 (1.609–8.172, p = 0.002), but associations of rapid eye movement AHI (REM‐AHI) and lowest SaO ₂ with hypertension were not statistically significant. Conclusion . Increased AHI, NREM‐AHI, ODI, and severities of OSAS were significantly associated with higher risks of hypertension in T2DM patients. Detection and treatment of OSAS are needed to prevent hypertension in T2DM patients.

TPK deficiency, also known as thiamine metabolism dysfunction syndrome 5, is a rare autosomal recessive disorder of inborn error of metabolism caused by TPK1 gene mutation. Its clinical manifestation is highly variable, ranging from spontaneous remission to fatal metabolic crisis. Here, we describe two affected siblings in a Chinese family presenting with recurrent episodes of acute ataxia. Whole exome sequencing identified a homozygous missense variant c.382C > T (p.Leu128Phe) in the TPK gene, which is located in the thiamine binding domain and affects a highly conserved amino acid. Besides, a review of the 18 previously reported patients provides a better understanding of the clinical and genetic features of this disorder. TPK deficiency may be an under-diagnosed cause of acute encephalopathy and ataxia. Given the potential benefit of early intervention, TPK deficiency should be considered in patients with episodic encephalopathy or ataxia, especially those associated with lactic acidosis and α-ketoglutaric aciduria. Significant decreased TPP in the blood is a strong hint of the disease. WES (whole exome sequencing) can help to further identify the molecular diagnosis.

Objective: This study aimed to examine the changes and significance of matrix metalloproteinase 9 (MMP9), MMP2, tissue inhibitor of metalloproteinase 1 (TIMP1), and TIMP2 in rats with lipopolysaccharide (LPS)-induced acute lung injury (ALI). Methods: Wistar rats were randomly divided into a control group (injected with saline) and an ALI group (injected with LPS), then subdivided into four time points (2, 6, 12, and 24 hours). Serum tumor necrosis factor alpha and interleukin-6 levels were detected by ELISA to investigate the inflammatory reaction after LPS injection. The degree of ALI was determined by hematoxylin–eosin staining of lung tissue, the lung wet/dry weight ratio, and pulmonary permeability index. Changes in lung MMP and TIMP protein and mRNA levels were detected by western blotting and quantitative real-time polymerase chain reaction. Results: Changes in the ratios of MMP9/TIMP1 and MMP2/TIMP2 were consistent with and strongly positively associated with the lung wet/dry weight ratio, the pulmonary permeability index, and serum tumor necrosis factor alpha and interleukin-6 levels in the ALI group. Conclusion: ALI induced by LPS may be related to upregulation of MMP9/TIMP1 and MMP2/TIMP2 ratios.