Neonatal PURA syndrome: a case report and literature review.

The study's purpose is to investigate the clinical characteristics and research progress of PURA syndrome. It will also provide new ideas and methods for the diagnosis of neonatal hypotonia etiology. A case of PURA syndrome admitted to Shenzhen Hospital of Peking University was analyzed retrospectively. The keywords "PURA", "PURα", "PURA syndrome", and "5q31" were used to search the Chinese periodical full-text database and Wanfang database. The keywords "PURA", "PURα", "Pur-alpha", "PURA syndrome", and "5q31" were used to search the biomedical literature database (PubMed). The Web of Science database and Proquest database were used to find works of literature from the establishment of the database to November 10, 2019. By analyzing the 72 cases of PURA syndrome reported in ten Chinese and international studies, it was found that 57% (21/37) of the patients had a gestational age greater than 41 weeks. Neonatal patients exhibited hypotonia (82%, 59/72), feeding difficulties (97%, 64/66), apnea or primary hypoventilation (57%, 41/72), intrauterine excessive hiccupping (55%, 6/11), and drowsiness (51%, 24/47). After the neonatal period, the pediatric patients demonstrated moderate to severe mental retardation (100%), epilepsy (54%, 29/54), progressive hip dysplasia (17%, 7/42), scoliosis (48%, 11/23), dysphagia and salivation (69%, 25/36), and constipation (60%, 21/35). The clinical manifestations of the present case were consistent with those in the literature reports. It was the first confirmed case at Shenzhen Hospital in the neonatal period and had a de novo mutation. It was difficult to diagnose PURA syndrome in the neonatal period, which might affect multiple systems. In newborns with obvious hypotonia, the evaluation should be expanded to consider other symptoms. Additionally, targeted gene detection should be completed to achieve early diagnosis and intervention, improve the prognosis, and perform genetic counseling.

N-terminal pro-brain natriuretic peptide used for screening hemodynamically significant patent ductus arteriosus in very low birth weight infants: How and when?

BACKGROUND: N-terminal pro-B-type natriuretic peptide (NTproBNP) appears to be a useful tool for diagnosing hemodynamically significant patent ductus arteriosus (hsPDA) in preterm infants. However, a consensus for its application has not been reached. OBJECTIVE: The present study aims to evaluate the role of NTproBNP in predicting hsPDA in preterm infants, and explore the optimal cutoff value and testing-time. METHODS: A prospective blind study of 120 preterm infants with birth weights of < 1,500 g was conducted at the NICU of Peking University Shenzhen Hospital. Blood samples were successively collected on the first three days after birth for NTproBNP analysis. Echocardiographies were performed on day three of life to confirm the status of the ductus arteriosus. A receiver operating characteristic curve (ROC) analysis was performed to determine the ability of NTproBNP to recognize hsPDA. RESULTS: NTproBNP was significantly higher in infants with hsPDA, than in infants in the control group, on both day two (P < 0.001) and day three (P < 0.001). On day two, a NTproBNP cutoff value of 3,689.0 pmol/L offered an optimal predictive value for hsPDA, while on day three, the optimal cut-off value for hsPDA was 2,331.5 pmol/L. The investigators proposes day three of life (48-72 hours) as the optimal testing time. CONCLUSION: The NTproBNP biomarker during the early neonatal period can be a useful tool for screening and assessing hsPDA in premature infants, especially on day three of life.

[Effect of pregnancy-induced hypertension syndrome on complications in very low birth weight preterm infants].

OBJECTIVE: To study the effect of pregnancy-induced hypertension syndrome (PIH) on complications in very low birth weight (VLBW) preterm infants. METHODS: The VLBW preterm infants were enrolled as research subjects, and according to the presence or absence of PIH in their mothers, they were divided into PIH group and non- PIH group. The incidence of major complications and length of hospital stay were compared between the two groups. RESULTS: There were no significant differences between the two groups in gestational age, birth weight, sex, incidence rate of maternal diabetes, and use of antepartum hormone. The PIH group had a significantly higher rate of birth of small-for-gestational-age infants than the non-PIH group. The PIH group had a significantly lower incidence rate of bronchopulmonary dysplasia (BPD) than the non-PIH group, while there were no significant differences between the two groups in the incidence rates of apnea of prematurity, necrotizing enterocolitis, retinopathy of prematurity, and intraventricular hemorrhage-periventricular leukomalacia, and the length of hospital stay. There was no significant difference in the incidence rate of neonatal respiratory distress syndrome between the two groups, but the PIH group had a significantly lower proportion of infants who used pulmonary surfactant than the non-PIH group. CONCLUSIONS: PIH can alleviate respiratory complications and reduce the use of pulmonary surfactant and the incidence rate of BPD in preterm infants.