ABSTRACT
The clinical data of a child with intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) admitted to the Department of Pediatrics of Gansu Provincial People′s Hospital in December 2020 were retrospectively analyzed and related literatures were reviewed.The female child was at the age of 6 months, with birth weight of 2.8 kg, hypodystonia, underdevelopment, blepharophimosis, slightly ptosis and six fingers deformity.Whole exome sequencing showed that the patient′s BRPF1 gene c. 1631G>A (p.Trp544Ter) heterozygous pathogenic variant was a novel IDDDFP-related mutation, which was consistent with the phenotype and inheritance pattern of the subject.A total of 27 patients with IDDDFP were found in 6 articles, including 4 pedigrees.The patients displayed different degrees of mental disability and facial deformities, psychomotor and language retardation, epilepsy and other clinical features.When the clinical manifestations of children are mental retardation, ptosis, psychomotor and language retardation, and epilepsy, IDDDFP should be considered, and gene sequencing can make a clear diagnosis.
ABSTRACT
Objective To investigate the prevalence of urine abnormalities for school children in Lanzhou and evaluate the signiifcance of urine screening. Methods During 2012-2013, urine from 10795 students were collected, and screened by urine reagent paper. Two weeks later, repeated screening was conducted in those who had abnormal result in the ifrst screening. Children with both results being abnormal were submitted to urine routine tests in local hospitals. Results In the ifrst screening of school children, 1653 (15.31%) children were urinary occult blood positive, 516 (4.78%) had urinary protein, 112 (1.04%) had occult blood with proteinuri and 743 (6.88%) had white cells in urine. In the second urine screening, the positive rate of occult blood was 7.55%(815 ), urinary protein was 2.13%(230), occult blood with proteinuria was 0.69%(74) and white cells in urine was 2.51%(271). Four hundred and iffty-ifve students in 1359 were submitted to urine routine tests. Thirty-two children had pyuria, 147 had hematuria, 23 had proteinuria and 13 had occult blood with proteinuria. Thirteen cases of chronic kidney disease were found in the follow-up. The incidence of urine abnormalities was signiifcantly higher in junior middle school than in primary school. Conclusions Urine screening is an effective way to ifnd asymptomatic kidney disease and urinary tract infection. Follow-up should be strengthened.
ABSTRACT
Objective To study the relationship between Tei index and the myocardial enzymes in newborns with myocardial damage due to asphyxia. Methods Forty-four newborns with mild asphyxia,27 newborns with severe asphyxia and 20 healthy newborns hospitalized in our hospital from January 2005 to December 2008 were enrolled in this study.The peak E and peak A and E/A ratio at mitral valve,the ejection fraction,isovolumetric contraction time,isovolumetric relaxation time and Tei index were measured by conventional echocardiography,and aspartate aminotransferase,creatine kinase,lactate dehydrogenase,hydroxybutyrate dehydrogenase and creatine phosphate kinase isoenzyme,and cardiac troponin T were tested also.One-way ANOVA was used to analyze the difference between groups. Results Tei index,isovolumetric contraction time and isovolumetric relaxation time in the severe asphyxia newborns were 0.62±0.13,(47±7)ms and(52±8)ms,higher than those in the mild asphyxia newborns[0.51±0.14,(41±6)ms and(43±6)ms],those in the mild asphyxia newborns were higher than in the healthy newborns[0.39±0.12,(34±6)ms and (37±6)ms] (all P<0.01).Aspartate aminotransferase,lactate dehydrogenase,hydroxybutyrate dehydrogenase,creatine kinase and its isoenzymes and cardiac troponin T in the severe asphyxia newborns were higher than in the mild asphyxia newborns and healthy group(P<0.01).Tei index,isovolumetric contraction time and isovolumetric relaxation time were positively related to the myocardial enzymes.The positive relationships were more statistically significant in Tel index,creatine kinase,its isoenzymes and cardiac troponin T(r=0.762,0.821,0.778,P<0.01).Conclusions Combination of Tei index and myocardial enzymes can not only be applied to assess the cardiac function in newborns with myocardial damage due to asphyxia,but also to evaluate the degree of cardiac dysfunction accurately and dynamically.
ABSTRACT
Objective To explore the changes of renal blood flow and renal injury in neonates with birth asphyxia. Methods Seventy-one patients were tested for Ultrasonic Doppler renal blood flow and renal function. Results The blood perfusion resistance was increased and the blood flow perfusion was decreased, Even in light asphyxia. Conclusion The hemodynamic disturbance is the main reason for renal injury and dysfunction in infants with birth asphyxia, and detecting hemodynamic disturbance and urinary enzyme may be an early diagnostic method to evaluate the renal injury.