Clinical and molecular genetic analysis of a child with Schmid type metaphyseal chondrodysplasia / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical features and genotype of a child with Schmid type metaphyseal chondrodysplasia.@*METHODS@#Clinical data of the child and her parents was collected. The child was subjected to high-throughput sequencing, and candidate variant was verified by Sanger sequencing of her family members.@*RESULTS@#Whole exome sequencing revealed that the child has harbored a heterozygous c.1772G>A (p.C591Y) variant of the COL10A1 gene, which was not found in either of her parents. The variant was not found in the HGMD and ClinVar databases, and was rated as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).@*CONCLUSION@#The heterozygous c.1772G>A (p.C591Y) variant of the COL10A1 gene probably underlay the Schmid type metaphyseal chondrodysplasia in this child. Genetic testing has facilitated the diagnosis and provided a basis for genetic counselling and prenatal diagnosis for this family. Above finding has also enriched the mutational spectrum of the COL10A1 gene.

Clinical characteristics and molecular genetics of seven neonates with congenital nephrogenic diabetes insipidus / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics, genetic basis and clinical treatment of seven neonates with congenital nephrogenic diabetes insipidus (NDI).@*METHODS@#Clinical data of the patients were collected. High-throughput sequencing was carried out to detect potential variants. Sanger sequencing was used to verify the results.@*RESULTS@#The patients were all males, with the age of onset being 10 to 21 days. All patients were admitted to the hospital for intermittent fever as the first symptom during the neonatal period. Additional symptoms had included polydipsia and polyuria. After the treatment, 5 patients had recovered, the remainders still had NDI symptoms and developmental retardation. Five children were found to harbor pathogenic variants of the AVPR2/AQP2 gene, which included one in-frame mutation of c.645_646insGCACCTACCCTGGGTATCGCC, two missense mutations of c.541C>T and c.419C>A, and two hemizygous deletions of the AVPR2/AQP2 gene. Among these, two were unreported previously. Cases 6 and 7 were a pair of twins. Both had carried homozygous missense variants of c.538G>A of the AVPR2/AQP2 gene, which was known to be pathogenic.@*CONCLUSION@#AVPR2/AQP2 is the main pathogenic gene for congenital NDI, for which two novel pathogenic variants have been discovered in this study. Above results have provided a basis for clinical diagnosis and genetic counseling for the affected pedigrees.

A study on the relationship between neurodevelopment and early nutritional status of very low birth weight infants / 中国新生儿科杂志

Objective To study the relationship between neurodevelopment and early nutritional status of very low birth weight(VLBW)infants in NICU.Methods VLBW infants admitted to NICU of our hospital from January 2013 to December 2014 and received regular follow-up management at our high-risk infant outpatient clinic were retrospectively studied. All infantsˊdevelopmental quotient ( DQ) were evaluated at 3 months of corrected gestational age ( cGA) . DQ ≥130 was defined as excellent, 115-129 above medium, 85-114 medium, 70 -84 below medium and ≤69 abnormal. According to their DQ scores, infants were assigned into two groups, normal neurodevelopment group ( DQ≥85 ) and abnormal neurodevelopment group ( DQ<85 ) . Nutritional status during hospitalization between the two groups were compared.Results A total of 125 VLBW infants were recruited.At three months of cGA, 2 cases ( 1. 6℅) had excellent DQ score; 3 ( 2. 4℅) above medium; 63 ( 50. 4℅) medium;57 (45. 6℅) below medium. 68 cases (54. 4℅) in the normal development group and 57 (45. 6℅) in the abnormal group. The total energy intake, the proportion of enteral energy supply on 4 d, 7 d, 14 d after birth and amino acid supply on 4 d, 7 d were significantly higher in the normal neurodevelopment group than the abnormal group (P<0. 05). Comparing with the abnormal group, weight loss of VLBW infants in the normal neurodevelopment group was less; the time needed to reach birth weight and exclusive enteral nutrition in the normal neurodevelopment group was shorter. The differences were statistically significant between the two groups(P<0.05).Conclusions VLBW infantsˊearly nutritional status may influence their neurodevelopmental outcome.

Efficacy and mental development comparison of caffeine citrate and aminophylline for treating primary apnea in premature infants / 中国新生儿科杂志

Objective To study the mental development and efficacy of caffeine citrate and aminophylline in treating primary apnea in premature infants. Methods Preterm infants who were diagnosed as primary apnea, received caffeine citrate therapy and recovered in the neonatal ward of our Hospital from December 2013 to December 2014, and followed-up in the high-risk infants outpatient clinic of our Hospital after discharge were recruited in the caffeine group. Preterm infants of aminophylline group were recruited randomly by number method. They were diagnosed as primary apnea, received aminophylline therapy and recovered in our neonatal ward from December 2011 to December 2013, and followed-up regularly in the high-risk infants outpatient clinic of our Hospital after discharge. The treatment effect and mental development at 6 and 12 months of corrected age between the two groups were compared. Results Each group included 150 cases of premature infants. The time (h) of oxygen therapy, noninvasive mechanical ventilation, and invasive mechanical ventilation in the caffeine group were all significantly shorter than that in the aminophylline group [(119. 1 ± 100. 2) vs. (156. 5 ± 134. 1), (107. 4 ± 100. 2) vs. (156. 7 ± 139. 8), (146. 4 ± 122. 6) vs. (270. 9 ± 257. 2), P < 0. 05]. The incidence of patent ductus arteriosus and bronchopulmonary dysplasia in the caffeine group were significantly lower than that in the aminophylline group (24. 0% vs. 45. 3% , 9. 3% vs. 21. 3% , P <0. 05). The scores of gross motor, fine motor and social intercourse in caffeine group were significantly higher than aminophylline group at 6 months of corrected age ( P < 0. 05). The scores of gross motor, fine motor, language and adaptability of infants at 12 months of corrected age from caffeine group were significantly higher than that of infants from aminophylline group ( P < 0. 05). Conclusions Caffeine citrate treatment of primary apnea in preterm infants is more effective than aminophylline. Caffeine citrate treatment can improve mental development of premature infants.

The imaging changes of premature infants with periventricular leukomalacia and its influence on prognosis / 国际儿科学杂志

Periventricular leukomalacia ( PVL) is the most distinctive and characteristic brain injury in premature infants, which may result in nervous system sequelae, and affect motor development and quality of life of the infants. PVL lacks specific symptoms and the diagnosis of PVL depends on imagine. Transcranial ultrasound could make initial diagnosis and prognostic evaluation for PVL. Combined with MRI, it can assess the degree of the white matter damage and predict the possible adverse consequences, which could provide evi-dence for early treatment. The changes of brain imaging and their impact on the prognosis of PVL in preterm newborn was reviewed in this article.