ABSTRACT
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.
Subject(s)
Child , Humans , Infant, Newborn , Male , Aquaporin 2/genetics , Diabetes Insipidus, Nephrogenic/genetics , Diabetes Mellitus , Molecular Biology , Mutation , Pedigree , Receptors, Vasopressin/geneticsABSTRACT
Objective To investigate the time for spontaneous closure of the ductus arteriosus and the trends of cardiac index(CI),peripheral vascular resistance index(SVRI)and blood pressure of neonates with different gesta-tional ages(GA). Methods A prospective observational study about 95 newborns,including 20 full - term and 75 pre-term infants were divided into 4 groups according to their GA as GA ﹤ 32 weeks(n = 27),32 weeks≤GA ﹤ 34 weeks (n = 25),34 weeks≤GA ﹤ 37 weeks(n = 23),GA≥37 weeks(n = 20). Patent ductus arteriosus was diagnosed by echocardiography(ECHO)at the time of 24 h,48 h,72 h,7 d and 14 d. CI,SVRI and blood pressure were measured with ultrasonic cardiac output monitor(USCOM). Results The cumulative spontaneous closure rate of arterious ductus of 32 weeks≤GA ﹤34 weeks,34 weeks≤GA ﹤37 weeks group and GA≥37 weeks group at 24 h after birth was 44. 0% , 61. 0% and 90. 0% respectively. However the rate was only 59. 1% at 72 h with the GA less than 32 weeks,of which 9 cases needed ibuprofen and 1 patient was conducted ductus arteriosus ligation. The differences in cumulative closure rate among 4 groups based on GA at 5 time points were statistically significant(χ2 =6. 756,4. 735,18. 890,11. 366,28. 159,all P ﹤0. 05). There was significant increase of systolic blood pressure,diastolic blood pressure and SVRI with ductus arte-riosus closure(t = -32. 561,-19. 913,-31. 791,4. 760,all P ﹤0. 000 1;t = - 25. 091,- 23. 400,- 21. 147,2. 240,all P ﹤0. 05;t = -10. 931,-9. 975,-9. 629,2. 350,all P ﹤ 0. 05). Whereas CI significantly decreased in groups of GA ﹤32 weeks,32 weeks ≤GA ﹤34 weeks,34 weeks ≤GA ﹤37 weeks(t =9. 224,6. 515,5. 996,all P ﹤ 0. 001)and no sig-nificant changes in GA≥37 weeks(t =0. 940,P ﹥0. 05). Conclusions With the increase of gestational age,the rate of naturally early arterial catheter closure is higher. Whereas there still are nearly one - third infants requiring medical or surgical intervention in the group of GA ﹤32 weeks. Ductus arteriosus has great influence on hemodynamics. For preterm, especially very low birth weight preterm,the use of ECHO and USCOM can early detect and treat patent ductus arteriosus.
ABSTRACT
Cardiac dysfunction in preterm infants is a common acute and critical illness,associated with higher mortality,and can cause severe short-term and long-term sequelae. Therefore,understanding the main fea-ture of hemodynamics in premature neonates,and the accurate and appropriate clinical monitoring methods are essential to assess cardiac function in early time. This review summarizes the main hemodynamic problem and cardiac function assessment methods in preterm neonates.
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Objective An effective method for separating coumarin from Artemisia capillaris by solvent sublation was established.Methods The effects of sublation solvent,the concentration of sample solution,N2 gas flow rate,pH value of solution,sublation time,and electrolyte NaCl etc.on the sublation efficiency were investigated and the optimal conditions of the solvent sublation were obtained.Results In the optimal conditions,the results of the solvent sublation were evaluated and compared with the solvent extraction.Conclusion The experimental results show that this method is simple and rapid,and the efficiency of coumarin by solvent sublation is far better than that by the solvent extraction.