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Objective:To identify the clinical phenotypes, diagnosis, and treatment of five children with DiGeorge syndrome finally diagnosed by gene, with review of the literature.Methods:The clinical data of five children with DiGeorge syndrome admitted to our hospital were collected and sorted out. Copy number variation sequencing (CNV-seq) based on next generation sequencing (NGS) technology was used to diagnose the genetic etiology of the children. The relationship between phenotypes and genotype among these five children were emphatically compared.Results:The five children collected in this study were all younger than 6 months. The course of the disease was more than 2 months to 1 year. Most of the first symptoms were convulsions and/or repeated infection. All of them had different degrees of growth retardation, with or without special facial features, epilepsy, congenital heart disease, etc. The similar blood ionized calcium levels revealed hypocalcemia, but the frequency and severity of convulsions were different. The copy number variation of chromosome 22q11.21 was detected in all these five children, and the deletion fragment was between 2.56-2.6 Mb, which was mostly coincident with the classical deletion region of DiGeorge syndrome (chr22: 19009792-21452445) recorded in Decipher database. One case was suggested to be a novel mutation, and the rest were of unknown origin.Conclusions:DiGeorge syndrome has great clinical heterogeneity. CNV-seq based on NGS technology is not only conducive to accurate genetic etiological diagnosis, but also helpful for understanding the corresponding relationship between clinical phenotype and genotype of hereditary syndrome, improving clinicians′ understanding and avoiding misdiagnosis.
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Objective:To explore the correlation between the index of hemodynamics in perinatal period and retinopathy of prematurity(ROP), so as to provide basis for the better prevention and treatment of ROP.Methods:From May 2017 to April 2019, the preterm infants were admitted to the Neonatal Intensive Care Unit of the First Affiliated Hospital of Zhengzhou University at birth and were hospitalized for more than 2 weeks, gestational age ≤ 35 weeks and birth weight ≤ 2 500 g. They were selected as the study objects.The perinatal data including heart rate, blood pressure, patent ductus arteriosus, ventricular septal defect, and NT-proBNP level on the 1 st, 7 th and 14 th day, respectively after birth were collected.They were divided into ROP group and non ROP group according to the results of the retinopathy screening report.The influencing factors of ROP were screened out by univariate analysis and multivariate regression analysis. Results:A total of 1 119 subjects were included, 105 infants with ROP were detected, and the prevalence of ROP was 9.4%.Among them, 12 cases of pre-threshold lesion type 1 and threshold lesions required treatment, accoun-ting for 1.07% of screened preterm infants .Univariate analysis and multivariate regression analysis revealed that gestational age, birth weight, total oxygen therapy time, and intrauterine growth restriction were all factors affecting ROP, and 2 hemodynamic related indicators, such as the level of NT-proBNP in plasma on the 14 th day after birth, and placenta previa or abruption were also related to ROP( OR=0.604, 0.647, 1.276, 2.361, 1.688 and 2.506, respectively, all P<0.05). Conclusion:The hemodynamic changes in perinatal period may be involved in the formation of ROP, and it is necessary to further clarify its mechanism.
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Objective To explore the testis development and epididymis in the preterm and term newborns so as to provide the scientific evidence for early clinical diagnosing early.Methods From October 2016 to March 2018,456 hospitalized neonates at Department of Neonatology,the First Affiliated Hospital of Zhengzhou University were recruited within 7 days at birth in this study.In these patients,224 cases were preterm newborns and 232 cases were term newborns.These gestational ages of newborns at birth were (36.18 ± 3.13) weeks (27-41 +6 weeks) and weighted (2.66 ± 0.67) kg(0.90-3.82 kg).The size of the testis and epididymis were measured by ultrasonography.Results The mean testicular volume of the preterm was (0.24 ± 0.07) mL.The mean length of epididymal head,thickness of epididymal head and body and tail of the preterm newborns were (4.17 ±0.59) mm,(2.58 ±0.39) mm,(1.78 ± 0.26) mm,(1.91 ± 0.24) mm,respectively.The mean testicular volume of the term newborns was (0.38 ± 0.13) mL,the mean length of epididymal head,thickness of epididymal head and body and tail of the term newborns were (4.49 ± 0.45) mm,(2.78 ± 0.34) mm,(1.95 ± 0.20) mm,(1.99 ± 0.16) mm,respectively.The mean testicular volume,length of epididymal head,thickness of epididymal head and body and tail of the preterm newborns were significantly lower compared with the term newborns (t =12.810,8.261,6.819,8.058,3.591,all P ＜0.001).The mean testicular volume of the newborns were highly linear positively correlated with gestational age,birth weight and birth length (r =0.538,0.591,0.533,all P ＜ 0.001).In the preterm newborns at postmenstrual age (PMA) of 37 weeks,the mean testicular volume,length of epididymal head,thickness of epididymal head and body and tail of the preterm newborns had no significant difference between the 2 groups (t =1.561,0.863,0.282,1.732,1.147,all P ＞ 0.05).Conclusions The testicular volume,the length of epididymal head,thickness of epididymal head and body increase with gestational age,birth weight and birth length in early neonates.The growth of reproductive system in the preterm newborns at PMA 37 weeks catch-up with term newborns.If this catch-up growth was incomplete at PMA 37 weeks,special attention should be given to monitor underlying diseases.
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Objective To explore the relationship between renal volume and function in the preterm and term newborns at different gestational ages.Methods This study was conducted at the First Affiliated Hospital of Zhengzhou University from October 2016 to March 2018.A total of 626 newborns with different gestational ages were included and the renal volume was determined by ultrasonography.Blood samples were taken for laboratory tests to detect renal function including urea,creatinine,uric acid and estimated glomerular filtration rate.Results A total of 352 preterm and 274 full term newborns were enrolled at birth.The mean gestational age of the neonates was (36.0 ± 3.5) weeks and the mean birth weight was (2.59 ±0.77) kg.The mean renal volume of the preterm infants was (19.57 ±4.30) cm3 and estimated glomerular filtration was (21.68 ± 5.99) mL/(min · 1.73 m2);the mean renal volume of the term infants was(23.03 ± 3.80) cm3 and estimated glomerular filtration was(46.60 ± 10.21) mL/(min · 1.73 m2).The renal volume and estimated glomerular filtration of term infants was significantly greater compared to the preterm infants (t =12.96,33.10,all P ＜ 0.001).The renal volume was highly linear positively correlated with gestational age,birth weight and birth length (r =0.546,0.605,0.592,all P ＜ 0.001).The renal volume was highly linear positively correlated with estimated glomerular filtration(r =0.396,P ＜ 0.001).The renal volume was negatively correlated with urea,creatinine and uric acid(r =-0.210,-0.280,-0.176,all P ＜ 0.001).Conclusions The renal volume increases with gestational age and birth weight in neonates.Estimated glomerular filtration increases with renal volume in neonates.The preterm infants have immaturity kidney size and poor development so that they need special medical care.
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Objective To investigate the significance of plasma exchange (PE) treatment on children with hemolytic uremic syndrome (HUS).Methods From Jan 2008 to Dec 2010,16 patients diagnosed with HUS were included in this study,and PE was carried out on them.Frozen plasma was taken as replacement fluid,and the treatment time was 2 to 3 hours per time.Results All the 16 patients after PE treatment were survived without any apparent complications.The condition obviously alleviated after initial treatment.In 12 to 72hours,the icterus disappeared,serum creatinine [ ( 385.0 ± 189.4 ) μmol/L vs ( 100.0 ± 19.3 ) μmol/L ] and lactate dehydrogenase [ (799.3 ± 289.8 ) U/L vs (300.0 ± 100.4) U/L ] declined obviously ( P ＜ 0.05 ) and platelet count [ (45.0 ± 18.8 ) × 109/L vs ( 120.0 ± 20.0 ) × 109/L ],hemoglobin [ ( 59.3 ± 15.3 ) g/L vs ( 120.0 ± 18.3) g/L] rised( P ＜ 0.05 ).In the end,symptoms disappeared in 15 patients,laboratory examination returned to normal in 14 cases.Hospitalization time was 15 to 57 days.Conclusion PE can effectively relieve the illness and remove plasma pathogenic substances,block the pathological process of HUS and supply useful ingredients.Recommend PE as the fhst option in the treatment of HUS.