Clinical and genetic characteristics of 11 neonates with Wiskott-Aldrich syndrome / 中国新生儿科杂志

Objective:To study the clinical and genetic characteristics of Wiskott-Aldrich syndrome (WAS) in neonates.Methods:From January 2016 to August 2022, neonates with WAS admitted to the neonatal department of our hospital were studied.Their clinical features, laboratory findings, genetic characteristics and clinical outcomes were retrospectively analyzed.Results:A total of 11 neonates(all male) were included. The mothers of 3 neonates had thrombocytopenia during pregnancy. The presenting symptoms included isolated bloody stool (4 cases), jaundice (3 cases), bloody stool with petechiae, bloody stool with hematemesis, cough and fever(1 case each). Eczema appeared from 6 d to 3 months after birth and in 6 cases during the neonatal period. None of the 11 cases had serious infection during the neonatal period. 9 cases had infection from 8 d to 5 months and 2 cases had not been infected until the last follow-up. Genetic sequencing showed four frameshift variants(c.30dupC, c.205dupT, c.1340_1343dupC and c.673_674delA), four nonsense variants(c.37C>T, c.295C>T, c.889C>T and c.823G>T) and three missense variants(c.134C>T, c.397G>A and c.341T>C). Pedigree verification of variants found 10 cases were inherited from their mothers and 1 case was de novo variant.Conclusions:WAS is characterized by bloody stool and eczema in the neonatal period, mostly without serious infections and lacking specific manifestations. Genetic screening for early identification of unexplained thrombocytopenia in male newborns should be performed as early as possible.

Monogenic mutations and congenital hypothyroidism / 国际儿科学杂志

Congenital hypothyroidism usually has no specific clinical symptoms in the neonatal period, which can be detected early through newborn screening, and early thyroid hormone replacement therapy can improve the prognosis.Congenital hypothyroidism is associated with the thyroid hypoplasia, thyroid hormone synthesis disorder, low response of thyroid or target organs and central hypothyroidism.With the development of genomics and second-generation gene sequencing, more and more monogenic mutations have been reported to be associated with this disease.The review of CH caused by monogenic mutation is aimed at comprehensively assessing the condition of neonates with CH, providing individualized treatment, guiding long-term follow-up and improving prognosis.

Neonatal congenital tongue base cyst: clinical analysis of 35 cases / 中华围产医学杂志

Objective:To investigate the clinical characteristics of neonatal congenital tongue base cyst.Methods:This retrospective study involved 35 neonates with congenital tongue base cyst diagnosed in the neonatal intensive care unit (NICU) of Xi'an Children's Hospital from June 2013 to December 2019. General information, clinical manifestations, supplementary results, treatment and prognosis of these babies were described.Results:(1) The median age at the onset of the disease was 12.5 (0~28) d and the median age at admission was 15 (0~28) d for these babies. The main clinical manifestations were laryngeal stridor (28/35, 80.0%), inspiratory dyspnea and crying, especially when feeding (26/35, 74.3%) and choking and spitting with feeding (23/35, 65.7%). (2) Among the 35 cases, 15 (42.9%) required emergency endotracheal intubation due to significant dyspnea when were admitted to the NICU and five out of them were considered for having tongue base mass under laryngoscopy, while the other 10 cases underwent bedside electronic laryngoscopy after endotracheal intubation, in which space-occupying lesions were found. Tongue base cyst was considered in seven cases with laryngeal stridor complicated by protracted pneumonia using fiberoptic bronchoscopy. The other 13 cases were examined by electronic laryngoscope and considered as tongue base cyst. Thirty-five cases underwent cervical ultrasound and only five of them were considered as tongue base tumor. Thirty-two cases underwent cervical CT scan and only two of them were normal. Three cases were found to have tongue base cyst by cranial MRI. (3) Thirty-four cases were treated by radiofrequency ablation assisted with self-retaining microlaryngoscope and general anesthesia, while the other one firstly received puncture and drainage under direct laryngoscope due to the difficult intubation because of the huge tongue base cyst and then underwent surgery when stable. Only one case (2.9%) relapsed after surgical treatment during regular follow-up.Conclusions:Neonatal congenital tongue base cyst has an early onset and atypical clinical manifestations. Electronic laryngoscopy/fiberoptic bronchoscopy combined with neck CT or MRI examination should be performed promptly in patients with laryngeal stridor and inspiratory dyspnea to facilitate the accurate diagnosis and timely surgery is required for.

Clinical phenotype and variantal analysis of a pedigree affected with hereditary coagulation factor V deficiency / 中华医学遗传学杂志

OBJECTIVE@#To explore the molecular basis for a pedigree affected with coagulation factor V (FV) deficiency.@*METHODS@#Clinical data of the patient and his family members was analyzed. Targeted capture and next-generation sequencing (NGS) and Sanger sequencing were carried out to detect potential variant of the FV gene.@*RESULTS@#The patient presented with jaundice and prolonged prothrombin time (PT) and activated partial thromboplastic time (APTT). V factor activity measured only 0.1% of the normal level, though the patient had no sign of bleeding. A paternal heterozygous variant c.653T>C (p.F218S) and a maternal heterozygous variant c.3642_3643del (p.P1215Rfs*175) were identified in the FV gene of the patient. His elder brother was a heterozygous carrier of the c.653T>C (p.F218S) variant. c.653T>C(p.F218S) was a known pathogenic variant, while the c.3642_3643del (p.P1215Rfs*175) variant was unreported previously.@*CONCLUSION@#Mutations of the FV gene probably underlie the hereditary coagulation factor V deficiency in this patient. NGS combined with Sanger sequencing has detected potential variant with efficiency and provided a reliable basis for clinical and prenatal diagnosis for this family.

Analysis of 11 cases of moderate or severe neonatal hemophilia / 中国小儿急救医学

Objective:To analyze the clinical features of moderate or severe neonatal hemophilia, and improve the understanding of this disease.Methods:Eleven cases of neonates with moderate or severe hemophilia admitted to our NICU from January 2012 to June 2019 were enrolled.The clinical features, laboratory data, treatments and prognosis of these 11 neonates were retrospectively analyzed.Results:All the neonates were male, and were diagnosed hemophilia A. Seven neonates presented with intracranial hemorrhage including one case complicated with cerebral hernia.Only two of these neonates with intracranial hemorrhage had neurological abnormalities.One case presented with right adrenal hematoma, and one case presented with retroperitoneal hematoma.Jaundice was observed in nine cases, and seven cases, jaundice appeared within two days after birth, whose earliest was 12 hours after birth, and the highest total bilirubin was 388 μmol/L.All cases had prolonged activated partial thromboplastin time.All neonates had decreased activity of coagulation factor Ⅷ including eight moderate and three severe neonatal hemophilia A. Four cases had genetic testing.Three cases infused with fresh frozen plasma and cryoprecipitate and the rest treated with coagulation factorⅧ infusion.Ten cases improved after treatment, and one case abandoned treatment.Conclusion:Moderate or severe hemophilia is often complicated with intracranial hemorrhage or abdominal hemorrhage, often accompanied with hyperbilirubinemia.Imaging examination should be performed to exclude occult bleeding, and coagulation function and coagulation factor activity should be detected as soon as possible.Blood coagulation factors are infused according to the different expected factors of different bleeding sites.

Effect of early CRRT on correlation kidney injury in patients with severe acute pancreatitis / 中国基层医药

Objective To investigate the effects of early continuous renal replacement thempy(CRRT)on correlation kidney injury and prognosis in patients with severe acute pancreatitis(SAP).Methods According to the digital table,40 SAP patients were randomly divided into two groups:the control group(21 cases)and CRRT treat-ment group(19 cases).The levels of serum creatinine,urea nitrogen,IL -1,IL -6,TNF -α,the APACHEⅡscore, the incidence of mechanical ventilation were compared between the two groups.Results The levels of serum creati-nine,urea nitrogen were significantly lower in the CRRT group than those in the control group in day 3(t =2.836, 2.952,P =0.003,0.004);The levers of IL -1,IL -6,TNF -αwere significantly lower in the CRRT group than those in the control group in day 3(t =2.376,2.414,2.197,P =0.351,0.028,0.042);The APACHE II score,inci-dence of mechanical ventilation,the fatality rate in the CRRT group were significantly lower than those in the control group in day 3[(20.16 ±5.23)points vs.(13.83 ±4.48)points,14 cases(66.7%)vs.6 cases(31.6%),8 cases (38.1%)vs.2 cases(14.3%),t =4.572,χ2 =4.912,4.043;P =0.0329,0.027,0.044].Conclusion Early CRRT therapy can eliminate the IL -1,IL -6 and TNF -αin SAP patients,can reduce the incidences of AKI,which may provide more clinical benefits in the early phase of SAP.

Advance in the respiratory management of extremely low birth weight infants / 国际儿科学杂志

With the improvement of assisted reproductive technology and neonatal intensive care unit,the extremely low birth weight infants have increasingly survived.Since the immature pulmonary,antenatal interventions,resuscitation techniques and postnatal respiratory management attribute to their survival and long term outcomes.Non-invasive ventilation minimize barotrauma,volutrauma and oxygen toxicity induced by mechanical ventilation.Other new strategy such asinhaled NO,extracorporeal membrane oxygenation will be explored.