Objective:To analyze the clinical features and genetic factors of neonatal 17β-hydroxysteroid dehydrogenase type10 (HSD10) deficiency.Methods:The clinical characteristics and genetic test results of a child with HSD10 deficiency coming from Children′s Hospital of Nanjing Medical University in April 2019 were retrospectively analyzed.The keywords" 17β-hydroxysteroid dehydrogenase type 10 deficiency" or " 2-Methyl3-Hydroxybutyryl-CoA dehydrogenase deficiency" or " HSD10" , etc.were searched in various databases, including CNKI, Wanfang, Weipu, Embase and PubMed to review the cases collected from all published data until May 31, 2020.Results:The patient was a newborn male who developed symptoms on the first day after birth.The main signs were metabolic acidosis, increased blood ammonia and lactate, and hypotonia.Trio whole exom sequencing in the patient and his parents identified hemizygous NM001037811: c.650G>A, p.R217Q in the HSD17B10 gene that is inherited from the mother.Since the child died on the third day after birth, no further central nervous system examination was performed.The mother of the child has intellectual disability, the sibling sister is normal and the HSD17B10 locus is wild type.By lite-rature reviewing, 5 newborn cases with clear medical records and genetic test results were listed.All patients were male, and had onset of HSD10 deficiency within 1 week after birth.The main phenotypes include metabolic acidosis (increased blood ammonia and lactate), hypoglycemia, hypotonia, and convulsions.All 6 children died in early infancy.The corresponsive HSD17B10 variants were c. 740A>G/p.N247S, c.677G>A/p.R226Q, c.257A>G/p.D86G and c. 650G>A/p.R217Q, which did not indicate the hot spots of mutation. Conclusions:HSD10 deficiency in the neonatal period is relatively rare.The clinical diagnosis is difficult due to the serious condition and short course of the disease.Severe metabolic acidosis, hypotonia, and convulsions in neonatal patients are the main reasons for the poor prognosis, which can be attributed to the hemizygous variation and heterogeneity of the mutation site in male patients.c.650G>A may be closely associated with severe neonatal HSD10 deficiency, but the molecular biological mechanism needs to be further clarified.HSD10 deficiency has a poor prognosis and lacks effective treatment.

Objective To study the clinical application of proportional assisted ventilation (PAV) in the treatment of neonatal respiratory failure.Method From March 2011 to October 2013,a retrospective study was conducted on newborns receiving ventilation therapy for respiratory failure.The newborns were assigned into PAV group and synchronized intermittent mandatory ventilation (SIMV) group.Arterial blood pH 、partial pressure of arterial oxygen (PaO2)、partial pressure of arterial carbon dioxide (PaCO2) and oxygenation index (OI) were compared at the time before ventilation and 2 h,6 h,12 h,24 h after ventilation.The frequency of sedative usage and average time of ventilation between the two groups were compared.Result A total of 30 cases were enrolled in the PAV group and the SIMV group respectively.Before ventilation,no statically significant differences existed on blood pH[(7.13 ± 0.12)、(7.14 ±0.11)],PaO2[(41.1 ±8.9),(40.8±8.8) mmHg],PaCO2[(76.4±12.6),(73.2±13.5) mmHg]and OI between the two groups (P ＞ 0.05).2 h after ventilation,the blood pH [(7.25 ± 0.17)、(7.23 ± 0.15)],PaO2 [(51.0 ± 5.6)、(48.6 ± 5.3) mmHg] and OI were significantly improved,while PaCO2 [(66.3 ± 8.7)、(64.0 ± 7.5) mmHg] decreased.Comparing with data before ventilation,those parameters were statistically improved at each time point after ventilation (P ＜ 0.01).But no statistically differences existed between the two groups at the same time (P ＞ 0.05).Sedatives were used (2.3 ± 1.2)times/case in PAV group and (3.9 ± 2.2) in SIMV group,with statistically differences between the two groups (P ＜ 0.05).Average duration of ventilation were (5.1 ± 1.9) d in PAV group and (5.4 ± 2.1) d in SIMV group,with no statistically differences between the two groups (P ＞ 0.05).Conclusion PAV is very effective in treating the neonatal respiratory failure and worth spreading.

Objective:To study the risk factors of hemodynamically significant patent ductus arteriosus (hsPDA) in extremely preterm infants (EPI).Method:From July 2017 to April 2020, EPI (gestational age <28 weeks) admitted to the Department of Neonatology of our hospital were included and analyzed retrospectively. According to whether hsPDA existed or not, the infants were assigned into non-hsPDA group and hsPDA group. Demographic findings and possible risk factors of hsPDA were collected.The cumulative fluid overload (FO) within 3 days after birth was calculated. Univariate and multivariate analysis were used to determine the risk factors of hsPDA.Result:A total of 79 infants with gestational age of (27.0±0.9) weeks and birth weight of (987±173)g were enrolled, including 23 cases in non-hsPDA group and 56 cases in hsPDA group. Univariate analysis showed that thrombocytopenia ( P=0.044), respiratory distress syndrome (RDS) treated with pulmonary surfactant (PS) ( P=0.006) and high FO level ( P=0.002) were associated with hsPDA. Multivariate analysis showed that RDS treated with PS ( OR=5.933, 95% CI 1.360~25.883, P=0.018) and high FO level ( OR=1.261, 95% CI 1.063~1.496, P=0.008) were independent risk factors for hsPDA in EPIs. ROC curve analysis showed that the cut-off value of FO was -0.2%, with 85.7% sensitivity and 56.5% specificity distinguishing the presence of hsPDA (AUC=0.712, Youden index=0.422). Conclusion:High level of FO within the first 3 days of life and RDS treated with PS are independent risk factors for hsPDA in EPI. After PS treatment, hemodynamic changes of infants with RDS should be monitored closely. During early fluid management of EPI, FO should be strictly monitored to avoid high FO level.