Analysis of ARX gene variant in a child with X-linked lissencephaly with abnormal genitalia / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic basis for a child with X-linked lissencephaly with abnormal genitalia (XLAG).@*METHODS@#A child with XLAG who had presented at the Third Affiliated Hospital of Zhengzhou University in May 2021 was selected as the study subject. Peripheral blood samples of the child and his parents were collected and subjected to high-throughput sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the result was analyzed by using bioinformatic software.@*RESULTS@#The child was found to have harbored a hemizygous c.945_948del variant in exon 2 of the ARX gene, which as a frameshifting variant has resulted in a truncated protein. His mother was found to be heterozygous for the variant, whilst his father was of wild type. The variant was unreported previously.@*CONCLUSION@#The hemizygous c.945_948del variant of the ARX gene probably underlay the XLAG in this patient. Above finding has provided a basis for the diagnosis and genetic counseling for this family.

Clinical characteristics of ureaplasma urealyticum infection in very low birth weight preterm infants / 中国新生儿科杂志

Objective:To study the clinical characteristics and risk factors of intrauterine Ureaplasma urealyticum (UU) infection in very low birth weight preterm infants.Methods:From March 2019 to February 2022, very low birth weight preterm infants with gestational age 28~32 weeks admitted to our hospital were enrolled in this single-center retrospective study. According to the UU test results of respiratory tract samples obtained within 24 h after admission, the infants were assigned into the UU group (UU-PCR positive) and the non-UU group (UU-PCR negative). SPSS 26.0 statistical software was used to compare the clinical characteristics, laboratory indices, and complications between the two groups. Risk factors of UU infection were calculated.Results:A total of 327 preterm infants were included: 45 in the UU group and 282 in the non-UU group. No significant differences existed in gender, gestational age, birth weight and delivery pattern between the two groups ( P>0.05). Compared with the non-UU group, the UU group had significantly higher incidences of premature rupture of membranes (PROM) and chorioamnionitis, elevated white blood cell and platelet counts, procalcitonin and C-reactive protein levels, total duration of oxygen use and ventilation, bronchopulmonary dysplasia, necrotizing enterocolitis and metabolic osteopathy ( P<0.05). Multivariate logistic regression analysis showed that PROM ( OR=5.444, 95% CI 2.749-10.781, P<0.001) and chorioamnionitis ( OR=2.161, 95% CI 1.048-4.454, P=0.037) were independent risk factors for UU infection. Conclusions:PROM and chorioamnionitis are risk factors for UU infection in very low birth weight preterm infants. For high-risk premature infants, the UU test should be completed as soon as possible after birth.

Effect of Adenine arabinoside monophosphate on treatment of infant cytomegalovirus hepatitis / 中华实用儿科临床杂志

Obgective To investigate the clinical effect of Adenine arabinoside monophosphate (Ara-A) on the treatment of infant cytomegalovirus hepatitis.Methods One hundred cases of infants with cytomegalovirus hepatitis in the Third Affiliated Hospital of Zhengzhou University from January 2012 to October 2013 were included and divided into 2 groups:Am-A group treated with Ara-A [a course of treatment lasting for 2 months included 10 mg/(kg · d) for first 2 weeks followed by 2 weeks' interval,and then resumed],and then control group was given ganciclovir [10 mg/(kg · d) for 14 days and 5 mg/(kg · d) for 1 week after 1 week's interval,for a total treatment period of 1.5 to 2.0 months].Both groups were given conventional therapy.Both before and after treatment,liver function,time of jaundice and transaminase back to normal,quantification of viral DNA returns to negative,side effects,hospitalization time and cost were also compared.Results After 2 weeks,alanine aminotramferase(ALT) in Ara-A group was significantly lower than that of the control group,and there was significant difference (P ＜0.05).After 2 months,ALT,aspartate transaminase in Ara-A group were significantly lower than those in the control group (all P ＜ 0.05).Time of transaminase back to normal [(38.5 ± 16.7) d] was significantly reduced compared with the control group [(44.3 ±22.9) d] (F =3.845,P ＜ 0.05).Time of jaundice back to normal [(27.1 ± 10.5) d],quantification of viral DNA back to negative [(39.5 ±24.0) d],hospitalization time [(22.6 ±5.8) d] and costs [(10 521.9 ±2 662.3) yuan] in Ara-A group had no significant difference compared with those of the control group (F =1.111,2.837,0.840,2.223,all P ＞ 0.05).The negative rate of viral DNA quantification in Ara-A group (80.9％) was higher than that of the control group (62.1％),and the liver injury rate (7.1％) was lower than that of the control group (15.5％),and the difference was statistically significant (x2 =9.137,11.514,all P ＜ 0.05).Condusion Ara-A is safe and effective for infant cytomegalovirus hepatitis and it is suitable for the clinical practice.

Progress of acute respiratory distress syndrome in newborn / 国际儿科学杂志

Acute respiratory distress syndrome is an acute,progressive and inflammatory process of lung injury.The disease is very serious with the neonatal mortality as high as 30％-60％.In recent years,with the development of the study on the mechanisms of newborns with acute respiratory distress syndrome,a lot of new viewpoints on diagnosis and treatments have been explored.This review focuses on the recent advances on new mechanisms,diagnosis and therapy strategies of acute respiratory distress syndrome.