A case of mental retardation autosomal dominant 35 with neonatal onset / 中华围产医学杂志

This article reported a male patient with neonatal onset mental retardation autosomal dominant 35 (MRD35). The boy presented with repeated convulsions, hypotonia, enlarged head circumference, congenital muscular torticollis and feeding difficulties in the neonatal period. Dynamic electroencephalogram showed paroxysmal epileptic discharges in the left central-temporal region. High-throughput whole-exome sequencing revealed a heterozygous mutation of c.139G>A (p.Glu47Lys) in the PPP2R5D gene, which was a de novo mutation not inherited from his parents. The child had significant developmental delay at the age of one year. MRD35 lacks typical clinical manifestations and requires whole-exome sequencing for definitive diagnosis. Currently, there is no specific treatment for MRD35 and symptomatic treatments, including rehabilitation training, language training and seizure control, are mostly adopted.

A case of neonatal-onset autoinflammation with infantile enterocolitis caused by a de novoNLRC4 gene variation / 中华围产医学杂志

This article reported a case of neonatal-onset autoinflammation with infantile enterocolitis (AIFEC) caused by NLRC4 gene mutation. The boy developed the disease in the neonatal period, presenting with recurrent fever, rash, hepatosplenomegaly and enterocolitis. Laboratory tests showed some indicators including ferritin and C-reactive protein were elevated. His condition was complicated by macrophage activation syndrome and anti-infective treatment was ineffective. High-throughput whole exome sequencing revealed a de novo heterozygous mutation of c.1021G>C (p.Val341Leu) in the NLRC4 gene and AIFEC was confirmed. AIFEC is a rare disease with no effective treatment at present, which can be developed in the neonatal period and diagnosed by whole exome sequencing.

Clinical characteristics and pathogenic distribution of late-onset sepsis among premature infants with gestational age less than 34 weeks in Henan Province / 中华临床感染病杂志

Objective:To analyse the pathogenic bacteria distribution and clinical characteristics of late-onset sepsis (LOS) among premature infants with gestational age less than 34 weeks in Henan Province.Methods:The clinical data of 6 590 premature infants admitted to 17 medical institutions in Henan Province from January 2019 to December 2020 were retrospectively analyzed. The gestational age of infants was less than 34 weeks and was admitted to the neonatal ward within 7 days after birth. SPSS 19.0 statistical software was used for data analysis.Results:Among 6 590 premature infants LOS developed in 751 cases (11.40%), of whom the diagnosis was confirmed in 276 cases (36.75%) and 475 cases (63.25%) were diagnosed clinically. The fatality rate related to LOS was 13.58%. There were significant differences in the incidence of LOS and infection-related mortality among infants with different gestational ages and body weights ( χ2=388.894 and 13.572, χ2=472.282 and 9.257, P<0.05 or <0.01). Among 276 children with confirmed LOS, 286 strains of pathogenic bacteria were isolated. Gram-negative bacteria were most prevalent (178 strains), accounting for 62.24% of all infections, followed by fungi (58 strains, 20.28%). Klebsiella pneumoniae was most frequently detected Gram-negative bacteria (117 strains, 40.91%), among which 32.48% (38/117) was carbapenem-resistant Klebsiella pneumoniae. The proportion of diagnosed sepsis, the proportion of catheterization, and the infection-related mortality of infants with LOS in tertiary hospitals were all higher than those in secondary hospitals ( χ2=6.212, 5.313 and 4.435, all P<0.05). The proportion of exclusive breastfeeding in secondary hospitals was lower than that in tertiary hospitals ( χ2=19.216, P<0.05). The time of antibacterial drug use before infection in specialized hospitals was longer than that in general hospitals ( χ2=3.276, P<0.05). Conclusion:The incidence of LOS among preterm infants in Henan Province is high, which was mainly caused by Gram-negative bacteria. The clinical characteristics of LOS caused by different pathogens and in different health institutions are different, the prevention and control strategy should be developed accordingly to reduce the incidence LOS of preterm premature infants.

Severe COVID-19 in a newborn / 中华围产医学杂志

We present a case of severe COVID-19 in a male newborn. A 22-day infant was transferred to Children's Hospital Affiliated to Zhengzhou University due to "intermittent fever for 18 days". The parents of the infant had been living in Wuhan and returned to Xinyang 9 days before delivery. Suspecting COVID-19 infection, a cesarean section was performed at 38 gestational weeks. The diagnosis of COVID-19 in the mother was confirmed at 2 days postpartum, as well as the father and the grandparents-in-law within 5 days postpartum. The baby developed fever and cough 5 days after birth, and a positive result for the new coronavirus nucleic acid test in the pharyngeal swab was shown 6 days after birth. The fever continued intermittently for 18 days, whilst nasal catheter oxygen inhalation treatment was administered. The percutaneous oxygen saturation decreased to 79% after cessation of oxygen, and the baby was transferred to the hospital for further treatment. After admission, the infant presented with cough, occasional choke, shortness of breath despite nasal catheter oxygen inhalation, increased heart rate, low urine volume, and an enlarged liver 2 cm below the right costal margin. The baby was diagnosed with severe COVID-19 accompanied by anemia, hyperkalemia, pneumonia, and atrial septal defect seen on the echocardiogram. After isolation in an incubator, oxygen inhalation, cardiotonic intervention, blood transfusion and antiviral treatment, the patient made a good recovery, with good breastfeeding, significant resorption of the lung inflammation and no fever or respiratory symptoms. The baby was discharged 14 days after hospitalization, with negative results for nucleic acid test of pharyngeal swab for 2 consecutive times.

A study on the relationship between mean platelet volume and severe retinopathy of preterm infants / 中国新生儿科杂志

Objective To study the relationship between mean platelet volume (MPV) and severe retinopathy of prematurity (ROP) in preterm infants.Method From January 2012 to June 2017,a retrospective case-control study was performed on preterm infants with gestational age (GA)＜32 weeks admitted to our hospital.The preterm infants with severe ROP were assigned into severe ROP group,and preterm infants with the same GA and birth weight but without ROP were assigned into the control group.The MPV were compared between the two groups,and Logistic regression method was used to analyze the risk factors for severe ROP.Result A total of 82 preterm infants with severe ROP were enrolled,including 51 males and 31 females with GA of 24～31 weeks.The control group also included 82 patients.The mechanical ventilation (MV) duration and continuous positive pressure ventilation duration of preterm infants in severe ROP group were significantly longer than the control group [7.2 (3.9,10.8) d vs.5.6 (3.5,8.9) d,7.8 (4.7,11.6) d vs.5.3 (2.3,9.2) d];the incidences of sepsis and intracranial hemorrhage were significantly higher than the control group [32.9％ (27/82) vs.17.1％ (14/82),31.7％(26/82) vs.17.1％ (14/82)],and the breast feeding rate was significantly lower than the control group[15.8％(13/82)vs.52.4％ (43/82)] (P＜0.05).The MPV of the preterm infants in the severe ROP group was significantly higher than the control group at 36-and 40-week of corrected GA [(10.6± 1.8) fl vs.(10.1± 1.4) fl,(10.8± 1.8) fl vs.(10.2± 1.5) fl] (P＜0.05).Multivariate Logistic regression analysis showed that high birth weight (OR=0.998,95％CI 0.996～ 0.999) protective factor for severe ROP,increased MPV (OR=1.084,95％CI 1.011 ～ 1.163) was risk factor for severe ROP.The ROC curve analysis indicated that threshold values of MPV at corrected GA of 32-week,36-week,and 40-week were 9.9 fl,10.9 fl,and 10.8 fl,respectively;and the sensitivities and specificities were 93.2％ and 68.0％,84.1％,and 92.3％,88.6％ and 89.5％,respectively.Conclusion MPV may be associated with the development of severe ROP in preterm infants.

The efficacy and safety of oral propranolol in the treatment of retinopathy of prematurity / 中国新生儿科杂志

Objective To study the changes of vascular endothelial growth factor ( VEGF) and sE－Selectin in serum before and after oral propranolol therapy for retinopathy of prematurity (ROP), and to study the safety and efficacy of oral administration of propranolol in the treatment of ROP.Method Preterm infants whose gestational age ＜32 weeks and ROP Ⅱstage without plus disease were selected as the objects of our study.The infants were randomly enrolled into treatment and placebo groups in a 1∶1 allocation.The propranolol dosage was 0.25 mg/(kg· d), twice daily orally.The duration of treatment was to complete retinal vessel development or discharge , the longest oral propranolol treatment did not exceed 30 days. Result The incidence of severe ROP in the treatment group was significantly reduced (17.1%vs.37.2%, P＝0.033), and the number requiring laser treatment of the eyes was significantly reduced (3.7%vs.12.8%, P＝0.048).After 10 days of treatment, the serum sE－Selectin decreased significantly in the treatment group, it was significantly lower than that in the placebo group ( P＜0.001).There were no mortalities in the treatment group and the placebo group.The heart rate of the treatment group was lower than that of the placebo group, however, there was no significant difference between the two groups (P＞0.05).There were no significant differences in mean arterial pressure , body weight gain, and urine volume between the two groups (P＞0.05).The serum potassium level in the treatment group was significantly higher than that in the placebo group after the treatment of 20 days and 30 days, [(4.2 ±0.9) mmol/L vs.(3.8 ± 0.4) mmol/L, ( 4.4 ±0.9 ) mmol/L vs.( 3.9 ±0.4 ) mmol/L ], the differences were statistically significant (P＜0.05).However, all the children had normal serum potassium.During treatment, there was no significant differences between the two groups for the incidence of oxygen inhalation and the number of apnea in all children (P＞0.05).Conclusion Propranolol may have a certain therapeutic effect on the progression of ROP.The oral administration was relatively safe and without significant adverse effects.

A study on the relationship between the Wnt receptor signaling pathway and severe retinopathy of prematurity / 中国新生儿科杂志

Objective To study the relationship of Wnt receptor signaling pathway and severe retinopathy of prematurity (ROP).Method From January 2011 to June 2015,preterm infants with severe ROP admitted to the NICU of our hospital were enrolled prospectively.Preterm infants with similar gestational age,gender,and age (in days) admitted to our hospital during the same period were selected as the control group.FZD4,LRP5,and ND gene mutations in Wnt receptor signaling pathway were examined.Result A total of 61 Chinese preterm infants were screened for these three candidate genes of Wnt receptor signaling pathway,32 in ROP group and 29 in control group.ND and FZD4 gene mutations were not found among all cases.Eight types of LRP5 mutations were found in 26 cases of ROP group,including 7 cases of Exon18 missense mutation [c.3989C ＞ T;p.Ala1330Val (rs3736228)],5 cases of Exon8 synonymous mutation (c.1647T ＞ C;p.Phe549Phe),5 cases of Exon6 intronic mutation [c.1412 + 8G ＞ A (rs4988319)],3 cases of Exon2 missense mutation [c.266A ＞ G;p.Gln89Arg (rs41494349)],2 cases of Exon21 intronic mutation [c.4349-17C ＞ T (rs372086596)],2 cases of Exon19 synonymous mutation (c.4089C ＞ T;p.Asp 1363 Asp),one case of Exon9 synonymous mutation (c.1 932G ＞ A;p.Glu644Glu),and one case of Exon16 missense mutation (c.3580C ＞T;p.Arg1194Cys).Three types of LRP5 mutations were found in 6 cases of the control group,including 4 cases of Exon8 synonymous mutation,one case of Exon19 synonymous mutation,and one case of Exon9 synonymous mutation.The positive rates of Exonl8 missense mutation and Exon6 intronic mutation in severe ROP group were significantly higher than the control group (P ＜ 0.05).Conclusion LRP5 gene mutations in Wnt receptor signaling pathway may be associated with the occurrence of severe ROP.