Search

Objectives: To investigate the clinical phenotypes, genetic characteristics, and pathological features of children with disorders of sex development (DSD)., Methods: A retrospective analysis was conducted on epidemiological, clinical phenotype, chromosomal karyotype, gonadal pathology, and genotype data of 165 hospitalized children with DSD at Children's Hospital of Hebei Province and Tangshan Maternal and Child Health Hospital from August 2008 to December 2022., Results: Among the 165 children with DSD, common presenting symptoms were short stature (62/165, 37.6%), clitoromegaly (33/165, 20.0%), cryptorchidism (28/165, 17.0%), hypospadias (24/165, 14.5%), and skin pigmentation abnormalities/exteriorized pigmented labia majora (19/165, 11.5%). Chromosomal karyotype analysis was performed on 127 cases, revealing 36 cases (28.3%) of 46,XX DSD, 34 cases (26.8%) of 46,XY DSD, and 57 cases (44.9%) of sex chromosome abnormalities. Among the sex chromosome abnormal karyotypes, the 45,X karyotype (11/57, 19%) and 45,X/other karyotype mosaicism (36/57, 63%) were more common. Sixteen children underwent histopathological biopsy of gonadal tissues, resulting in retrieval of 25 gonadal tissues. The gonadal tissue biopsies revealed 3 cases of testes, 3 cases of dysplastic testes, 6 cases of ovaries, 11 cases of ovotestes, and 1 case each of streak gonad and agenesis of gonads. Genetic testing identified pathogenic/likely pathogenic variants in 23 cases (23/36, 64%), including 12 cases of 21-hydroxylase deficiency congenital adrenal hyperplasia caused by CYP21A2 pathogenic variants., Conclusions: Short stature, clitoromegaly, cryptorchidism, hypospadias, and skin pigmentation abnormalities are common phenotypes in children with DSD. 45,X/other karyotype mosaicism and CYP21A2 compound heterozygous variants are major etiological factors in children with DSD. The most commonly observed gonadal histopathology in children with DSD includes ovotestes, ovaries, and testes/dysgenetic testes.

Objective: To investigate the risk factors for hearing impairment in premature infants., Methods: A total of 895 premature infants who were admitted to the neonatal intensive care unit from January to December 2010 were evaluated using distortion product otoacoustic emission to detect hearing impairment. The failure rates in initial screening and secondary screening were recorded. The risk factors for failure to pass hearing screenings were elucidate using multivariate logistic regression analysis., Results: The failure rate in initial screening was 38.4%, and the failure rate in secondary screening was 18.3%. In the auditory brainstem response test conducted at three months after birth, the failure rate was 22.2%. In premature infants with a gestational age of 28-29(+6) weeks, 60.5% did not pass the initial screening; 48.1% of the premature infants with a birth weight of 1 001-1 499  g failed the initial screening; 70.0% of the premature infants with a birth weight of ≤1 000  g failed the initial screening; 53.8% of the premature infants who had severe asphyxia failed the initial screening; 45.0% of the premature infants who used invasive ventilation failed the initial screening; 47.9% of the premature infants with a total bilirubin of ≥340 µmol/L failed the initial screening; 54.6% of the premature infants with septicemia failed the initial screenings. The multivariate logistic regression analysis revealed the following independent risk factors for failing the initial and secondary hearing screenings: gestational age, birth weight, hyperbilirubinemia and septicemia., Conclusions: Premature infants are susceptible to hearing impairment because they have immature organs and tissues and incomplete blood-brain barrier function and are sensitive to such factors as hyperbilirubinemia and infection. Early hearing screening and follow-up are necessary for premature infants to ensure timely interventions.

Objective: To describe the clinical features, treatments and prognosis of very low birth weight infants (VLBWIs) requring mechanical ventilation, to assess the risk factors associated with the mortality of VLBWIs, and to evaluate the significance of the scoring system based on clinical risk index for babies (CRIB) and the score for neonatal acute physiology-perinatal extension II (SNAPPE-II) for predicting mortality risk for premature infants in China., Methods: Perinatal data were collected from 127 VLBWIs requring mechanical ventilation who were admitted to the neonatal intensive care unit (NICU) from January 2010 to October 2011., Results: The enrolled infants had a mean gestational age of 31±2 weeks, a mean birth weight of 1290±170 g, a male/female ratio of 1.23∶1, and extremely low birth weight infant accounting for 6.3%. Of the 127 cases, 48.0% were administered with pulmonary surfactant (PS), and 49.6% received endotracheal intubation ventilation. The overall in-hospital mortality was 41.7%. Multivariate logistic regression revealed the following independent risk factors for mortality: low birth weight, multiple birth, cesarean section, and low PaO2/FiO2 ratio (OR = 1.611, 7.572, 4.062, and 0.133 respectively; P<0.05). SNAPPE-II and CRIB showed good performance in predicting prognosis, with areas under the ROC curve of 0.806 and 0.777 respectively., Conclusions: The overall mortality rate of VLBWIs is still relatively high. The high-risk factors for VLBWI mortality include low birth weight, multiple birth, cesarean section, and low PaO2/FiO2 ratio. The neonatal illness severity scoring system (using SNAPPE-II and CRIB) can be used to quantify illness severity in premature infants.

Objective: To evaluate the efficacy of targeted tidal volume ventilation in the treatment of severe neonatal respiratory distress syndrome (RDS)., Methods: Eighty-four neonates with severe RDS between June 2008 and January 2010 were randomly assigned to 3 groups according to the ventilation mode: synchronized intermittent positive pressure ventilation plus volume guarantee (SIPPV+VG; n=31), high frequency oscillation ventilation (HFOV; n=23) and intermittent mandatory ventilation (IMV; n=30). The oxygenation status, the durations of oxygen exposure and ventilation and the incidence of complications were observed., Results: The oxygenation status (P/F and a/APO2) in the SIPPV+VG and the HFOV groups was improved significantly 12 hrs after ventilation (P<0.05). While in the IMV group, the oxygenation status was not improved until 24 hrs after ventilation. The durations of oxygen exposure and ventilation in the SIPPV+VG and the HFOV groups were shorter than in the IMV group (P<0.05). The incidences of air leak syndrome and ventilation-associated pneumonia (VAP) were lower in the SIPPV+VG and the HFOV groups than in the IMV group (P<0.05). The incidence of severe intracranial hemorrhage in the HFOV group was higher than in the other two groups (P<0.05)., Conclusions: Compared with IMV, SIPPV+VG and HFOV can improve the oxygenation status more quickly, shorten the ventilation duration and decrease the incidences of air leak syndrome and VAP in neonates with severe RDS.

Objective: The study examined the changes of serum caspase-3 and IL-8 levels following selective head cooling with mild hypothermia (SHC) treatment in neonates with hypoxic-ischemic encephalopathy (HIE) in order to explore the mechanism of neuroprotection of SHC against HIE., Methods: Thirty-three neonates with moderate or severe HIE were randomly assigned to two groups: SHC treatment (n=16) and conventional treatment (n=17). Serum levels of caspase-3 and IL-18 were measured using ELISA before treatment and 24 hrs, 48 hrs, 72 hrs and 5 days after treatment., Results: Serum caspase-3 levels in the SHC group decreased 24 and 48 hrs after treatment (3.8±1.9 and 2.6±1.2 ng/mL, respectively) compared with 6.1±2.3 ng/mL at 24 hrs and 7.2±3.1 ng/mL at 48 hrs in the conventional treatment group (P<0.05). Serum IL-18 levels in the SHC group decreased 24 hrs, 48 hrs and 72 hrs after treatment (119±30, 76±33 and 71±40 ng/mL, respectively) compared with those in the conventional treatment group (138±28 ng/mL at 24 hrs, 156±60 ng/mL at 48 hrs and 182±54 ng/mL at 72 hrs; P<0.01)., Conclusions: SHC treatment can inhibit the release of caspase-3 and the expression of IL-18 in neonates with moderate or severe HIE. This may contribute to the neuroprotection of SHC against HIE.

Objective: To study the concentrations of IL-4 and IL-13 in bronchoalveolar lavage fluid (BALF) in neonates with respiratory distress syndrome (RDS) and concurrent ventilator-associated pneumonia (VAP)., Methods: Sixty-eight neonates with RDS undergoing mechanical ventilation for over 48 hrs were enrolled. IL-4 and IL-13 levels in BALF were measured using ELISA 1, 72 and 96 hrs after mechanical ventilation. The results were compared between the neonates with concurrent VAP (n=37) and without (n=31)., Results: The levels of BALF IL-4 96 hrs after ventilation in the VAP group (35.34+/-1.78 ng/mL) were significantly higher than those in the non-VAP group (13.69+/-2.47 ng/mL, P<0.05). The levels of BALF IL-13 96 hrs after ventilation in the VAP group (33.74+/-2.74 ng/mL) also increased significantly compared with those in the non-VAP group (13.50+/-3.81 ng/mL) (P<0.05). There were significant differences in BALF IL-4 and IL-13 levels between 1 hr and 96 hrs in the VAP group (P<0.05)., Conclusions: BALF IL-4 and IL-13 levels increase in neonates with RDS and concurrent VAP. IL-4 and IL-13 may involve in the regulation of the inflammatory immune response.