ABSTRACT
Epidermolysis bullosa (EB) is a rare and genetically heterogeneous disorder characterized by skin fragility and blister formation occurring spontaneously or after minor trauma. EB is accompanied by congenital absence of skin (EB with CAS) in some patients. Pathogenic variants of COL7A1 are responsible for EB with CAS in the vast majority of cases. Type and subtype diagnosis of EB with CAS generally requires specific immunohistological examinations that are not widely available plus targeted gene analysis. The present study aimed to determine the clinical features of five patients affected by EB with CAS and to identify the underlying genetic defects using whole exome sequencing (WES) followed by focused analysis of the target genes. Four patients had generalized skin involvement and one had localized defects. Two patients exhibited extremely severe skin manifestations and congenital cloudy cornea along with pyloric atresia, and one had partial esophagogastric obstruction and anuria due to vesicoureteric obstruction. In the WES analysis, the average coverage of the target exons was 99.05% (726 of 733 exons), with a range of 96.4-100% for individual genes. We identified four novel and two known pathogenic/likely pathogenic variants of five distinct genes in the examined families: PLEC:c.2536G > T (p.Glu846Ter); LAMC2:c.3385C > T (p.Arg1129Ter); KRT5:c.429G > A (p.Glu477Lys); ITGB4:c.794dupC (p.Ala266SerfsTer5); COL7A1:c.5440C > T (p.Arg1814Cys); and COL7A1:c.6103delG. All alleles were inherited from the parents, except for the KRT5 variant as a de novo finding. The findings reveal extremely rare phenotypes found in EB with CAS, namely congenital cloudy cornea, esophagogastric obstruction, and anuria, and extend the genotypic spectrum of EB-related genes. The data confirm that WES provides very high coverage of coding exons/genes and support its use as a reasonable alternative method for diagnosis of EB. The present data from an underrepresented population in Southeast Asia could further broaden the knowledge and research on EB.
ABSTRACT
OBJECTIVE: To study the effect of intact umbilical cord milking (I-UCM) procedure in comparison with the procedure of delayed cord clamping (DCC) in term neonates. STUDY DESIGN: A randomized controlled trial. SETTING: Department of Obstetrics and Gynecology and Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University. MATERIALS AND METHODS: The study was performed from June 2017 to March 2018. Singleton term pregnant women (37-42 weeks' gestation) were recruited. Neonates were randomized into DCC and I-UCM groups. Umbilical cord was 3 times milked toward the neonate in 25 cm length from umbilical stump which was still attached to the placenta before cutting the cord in I-UCM group. Delay in cord clamping for 60 seconds was performed before the cord cutting in DCC group. Neonatal and maternal outcomes were recorded. RESULTS: Of 168 neonates included in this trial, 84 cases were randomized into each group. The baseline characteristics of both groups were comparable. No statistical difference was found in terms of the mean of hemoglobin levels in the DCC and I-UCM groups which were 16.9 (±1.6) g/dl and 17.0 (±1.9) g/dl, respectively (P-value 0.75). There was no difference in terms of adverse neonatal and maternal outcomes in both groups. CONCLUSION: Both I-UCM and DCC revealed a comparable effect on hematologic status without deleterious effects on neonatal and maternal outcomes at the age of 48-72 hours in term neonates.
ABSTRACT
BACKGROUND: Performance of point-of-care (POC) glucometers in newborns have been unsatisfactory in low glucose concentration range and the effects of different hematocrit levels on glucose measurements have also demonstrated in currently used POC glucometers. METHODS: The aim of this study was to evaluate the performance of the new glucometer (Nova-Statstrip(®) ; Nova Biomedical, Waltham, MA, USA) compared to the reference method. Venous blood specimens of neonates were collected and tested by the two glucometers. Standard reference was performed using the hexokinase method within 10 min of blood collection. Hematocrit and total serum bilirubin measurements were performed simultaneously. RESULTS: One hundred and fifty-one blood specimens were collected and measured by the reference method with plasma glucose concentrations ranging from 12 to 371 mg/dL. Twenty-one specimens had plasma glucose concentrations <45 mg/dL. At plasma glucose concentrations less than 75 mg/dL, the Statstrip(®) achieved 93% in the tests for discrepancy < 15 mg/dL. At a glucose concentration more than 75 mg/dL, 97% of the Statstrip(®) readings were within 20% of the reference values. The mean difference (±2SD) of the Statstrip(®) was 2.8 (-14.1, 19.7) mg/dL. At a hypoglycemic level (<45 mg/dL), it showed a sensitivity of 95.2%. No significant interference of hematocrit or total serum bilirubin was found on the mean bias of the Statstrip(®) . CONCLUSION: The new glucometer (Nova-Statstrip(®) ) could be used for point-of-care blood glucose measurement in neonates as it showed a narrow margin of error and had no hematocrit or bilirubin interference.
