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Introduction: Congenital disorders of glycosylation (CDG) refer to monogenetic diseases characterized by defective glycosylation of proteins or lipids causing multi-organ disorders. Here, we investigate the clinical features and genetic variants of SSR4-CDG and conduct a preliminary investigation of its pathogenesis. Methods: We retrospectively report the clinical data of a male infant with early life respiratory distress, congenital diaphragmatic eventration, cosmetic deformities, and moderate growth retardation. Peripheral blood was collected from the case and parents, genomic DNA was extracted and whole-exome sequencing was performed. The mRNA expression of SSR4 gene was quantified by Real-time Quantitative PCR. RNA sequencing analysis was subsequently performed on the case and a healthy child. Results: Whole-exome sequencing of the case and his parents' genomic DNA identified a hemizygous c.80_96del in SSR4, combined with the case's clinical features, the diagnosis of CDG was finally considered. In this case, the expression of SSR4 was downregulated. The case were present with 1,078 genes downregulated and 536 genes upregulated. SSR4 gene expression was significantly downregulated in the case. Meanwhile, gene set enrichment analysis (GSEA) revealed that SSR4-CDG may affect hemostasis, coagulation, catabolism, erythrocyte development and homeostatic regulation, and muscle contraction and regulation, etc. Improvement of growth retardation in case after high calorie formula feeding and rehabilitation training. Conclusion: Our study expanded the SSR4-CDG variant spectrum and clinical phenotype and analyzed pathways potentially affected by SSR4-CDG, which may provide further insights into the function of SSR4 and help clinicians better understand this disorder.

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OBJECTIVES: Neonatal systemic lupus erythematosus (NLE) is an acquired autoimmune disease. The presence of effusions, such as pleural effusion and pericardial effusion, is rare. The present study helped investigate the clinical characteristics and progression of children with NLE combined with effusions. METHODS: Clinical data of patients diagnosed with NLE were retrospectively collected and analyzed from January 1, 2011, to December 31, 2023, at the Children's Hospital of Soochow University and Suzhou Municipal Hospital. Patients with NLE were divided into effusion and non-effusion groups based on the presence of effusion. Moreover, the clinical data of the newborns in both groups were compared and investigated. RESULTS: Eleven (11/45, 24.44%) NLE patients had effusions, such as pleural effusion, testicular hydrocele, peritoneal effusion, pericardial effusion, and hydrocephalus. Other organs involved in effusion patients were cutaneous, gastrointestinal, hematologic, cardiac, and neurological. Among the patients with effusion, five cases of SLE in pregnant mothers, two cases of Sjogren's syndrome, one case of photoallergic symptoms, and three of pregnant mothers with no history of antenatal autoimmune disease. Pregnant mother' autoimmune disease in remission prior to pregnancy, or stable low disease activity. Seven patients were positive for Anti-SSA, five of which were double positive for Anti-SSA and Anti-SSB. Compared with the non-effusion group, the effusion group patients had significantly higher lactate dehydrogenase, creatine kinase, and fibrinogen, significantly lower platelets, total protein, and albumin. These patients were likelier to have thrombocytopenia and coagulation abnormalities. Logistics regression analysis demonstrated that NLE patients with effusions are more likely to have decreased serum total protein levels. All NLE patients with effusion have self-resorption of the effusion. CONCLUSIONS: 24.44% of patients had effusions in our study. NLE patients with effusion are more likely to have hematologic involvement and a more inflammatory response. The effusion in NLE patients is usually self-resorption, severe cases can be treated with nonsteroidal anti-inflammatory drugs/steroids. Key Points • NLE patients combined with effusions and were self-limiting, with pleural effusion being the most common. • NLE patients combined with effusions have a more inflammatory response, significant abnormalities in the blood routine and biochemical-related indexes.

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Background: Periventricular leukomalacia (PVL) is an essential cause of cerebral palsy in preterm infants, and cystic PVL (cPVL) is the most severe form of the disease. The pathogenesis of cPVL is complex, and immune imbalances and inflammatory responses may play an essential role in it. Objective: This study aimed to investigate the correlation between peripheral blood lymphocyte subsets, especially γδT cells with the pathogenesis of cPVL in preterm infants. Methods: Peripheral blood from preterm infants with GA < 32 weeks and BW < 1,500 g was used in this study and was collected at 34 weeks corrected gestational age and within 24 h after the diagnosis with cranial MRI or cranial ultrasound. The infants were divided into cPVL groups and control groups. Flow cytometry was used to detect peripheral blood γδT, CD3+, CD4+, CD8+, and the proportion of total lymphocytes. Multiplex cell assays were used to detect the concentration of extracellular serum cytokines IL-6, IL-2, IL-8, IL-17A, IL-10, IL-1RA, eotaxin (CCL11), MCP-1 (CCL2), CXCL1, G-CSF, and IFNγ. A follow-up visit was carried out when the patient was 3 years old. Results: After correcting for confounding factors, the proportion of peripheral blood γδT in the cPVL group was significantly lower than that in the control group (ß: 0.216; 95% CI: 0.058-0.800, P < 0.022). Peripheral blood γδT (AUC: 0.722, P=0.006) and multivariate binary regression model (AUC: 0.865, P < 0.000) have good diagnostic values for cPVL. Peripheral blood γδT has some predictive power for neurodevelopmental outcomes in preterm infants (AUC: 0.743, P = 0.002). Conclusion: It seems that peripheral blood γδT cells are inversely correlated with cPVL, which is not only a risk factor for cPVL disease but also neurodevelopmental outcomes in preterm infants. However, the causality of cPVL and various lymphocytes is unclear and needs further study.

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OBJECTIVES: To construct risk prediction models for bronchopulmonary dysplasia (BPD) in preterm infants on postnatal days 3, 7, and 14. METHODS: A retrospective analysis was performed on the medical data of 414 preterm infants, with a gestational age of <32 weeks and a birth weight (BW) of <1 500 g, who were admitted to the neonatal intensive care unit from July 2019 to April 2021. According to the diagnostic criteria for BPD revised in 2018, they were divided into a BPD group with 98 infants and a non-BPD group with 316 infants. The two groups were compared in terms of general status, laboratory examination results, treatment, and complications. The logistic regression model was used to identify the variables associated with BPD. The receiver operating characteristic (ROC) curve was used to evaluate the predictive value of models. RESULTS: The logistic regression analysis showed that BW, asphyxia, grade III-IV respiratory distress syndrome (RDS), acute chorioamnionitis, interstitial pneumonia, fraction of inspired oxygen (FiO2), and respiratory support mode were the main risk factors for BPD (P<0.05). The prediction models on postnatal days 7 and 14 were established as logit (P7) =-2.049-0.004×BW (g) +0.686×asphyxia (no=0, yes=1) +1.842×grade III-IV RDS (no=0, yes=1) +0.906×acute chorioamnionitis (no=0, yes=1) +0.506×interstitial pneumonia (no=0, yes=1) +0.116×FiO2 (%) +0.816×respiratory support mode (no=0, nasal tube=1, nasal continuous positive airway pressure=2, conventional mechanical ventilation=3, high-frequency mechanical ventilation=4) and logit (P14) =-1.200-0.004×BW (g) +0.723×asphyxia+2.081×grade III-IV RDS+0.799×acute chorioamnionitis+0.601×interstitial pneumonia+0.074×FiO2 (%) +0.800×respiratory support mode, with an area under the ROC curve (AUC) of 0.876 and 0.880, respectively, which was significantly larger than the AUC of the prediction model on postnatal day 3 (P<0.05). CONCLUSIONS: BW, asphyxia, grade III-IV RDS, acute chorioamnionitis, interstitial pneumonia, FiO2, and respiratory support mode are the main risk factors for BPD and can be used to construct risk prediction models. The prediction models on postnatal days 7 and 14 can effectively predict BPD.

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BACKGROUND: As the survival rate of premature infants increases, the incidence of bronchopulmonary dysplasia (BPD), a chronic complication of premature infants, is also higher than before. The pathogenesis of BPD is complicated, and immune imbalance and inflammatory response may play important roles in it. OBJECTIVE: To investigate the correlation between lymphocyte subsets in peripheral blood, especially γδ-T cells, and BPD of preterm infants. MATERIALS AND METHOD: The study was carried out with the peripheral blood of premature infants (GA < 32 weeks, BW < 1500 g), which were collected at 24 h or 3-4 weeks after birth. The infants were divided into non-BPD groups and BPD groups that were classified as mild or moderate and severe in preterm infants based on the magnitude of respiratory support at 28 days age and 36 weeks postmenstrual age. The γδ-T, CD3+, CD4+, CD8+ and total lymphocyte subsets in peripheral blood were detected by flow cytometry. RESULTS: The percentages of T lymphocyte subsets in peripheral blood were not different between BPD and non-BPD within 24 h after birth. And no significant difference was found in T lymphocyte subsets among neonates with BPD of different severities. However, the infants who developed BPD had a significant increase in γδ-T cells compared to non-BPD ones within 3-4 weeks after birth. CONCLUSIONS: It seems that γδ-T cells in peripheral blood are correlated with BPD. However, the causality of BPD and various lymphocytes remains unclear, which need to be further studied.

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