Chromosomal microarray (CMA) has significantly improved diagnosing copy number variations (CNVs). Single nucleotide polymorphism (SNP) arrays confer additional utility in detecting regions of homozygosity (ROH). Investigating ROH for genes associated with recessive disorders for follow-up sequencing can aid in diagnosis. In this study, we performed a retrospective review of clinical and molecular data for 227 individuals from a highly consanguineous population who previously had a CMA. Pathogenic CNVs were identified in 32 (14%) cases; ROH suggesting uniparental disomy (UPD) in three (1%) cases, and an additional 25 (11%) individuals were diagnosed with recessive disorders caused by mutations in ROH candidate genes, thereby increasing the CMA diagnostic yield to 26%. Among the 25 individuals with recessive diseases, 18 had novel mutations in 16 genes (ASPM, SPINK5, QARS, MEGF10, SPATA7, GMPPA, ABCA4, SRD5A2, RPGRIP1L, MET, SLC12A6, ALDH1A3, TNFRSF11A, FLNB, PHGDH, and FKBP10) including five with phenotypic expansion.

AIMTo evaluate the prevalence, risk factors and outcome of acute kidney injury (AKI) in very low birth weight (VLBW) infants.METHODSIn this retrospective study of VLBW infants, we analyzed the prevalence of AKI, as defined by changes in serum creatinine and urine output, associated risk factors and outcomes.RESULTSA total of 293 VLBW infants (mean gestational age 28.7 wk) were included, of whom 109 weighed less than 1000 g at birth. The overall prevalence of AKI was 11.6% (22% in infants with a birth weight under 1000 g and 5.4% those heavier). A total of 19 (55%) affected infants died, with a mortality rate of 58% in infant less than 1000 g and 50% in those heavier. After adjusting for confounding variables, only necrotizing enterocolitis (NEC) remained associated with AKI, with odds ratio of 4.9 (95%CI: 1.9-18.6). Blood pressure and glomerular filtration rate (GFR) were not different between affected infants and the others upon discharge from hospital. A normal GFR was documented in all affected infants at one year of age.CONCLUSIONUsing Kidney Disease Improving Global Outcomes definition of AKI, it occurred in over 10% of VLBW infants, more commonly in infants with lower birth weight. NEC was an independent associated risk factor. Renal function, as defined by GFR, was normal in all surviving affected infants 10 to 12 mo later.

Background: Sepsis is still a leading cause of neonatal morbidity and mortality especially when caused by Gram-negative bacteria. The causative organisms and their susceptibility to antibiotics vary among units. Empiric antibiotic therapy is based on the likely pathogens and their susceptibility pattern in a NICU. This study aims to identify, in a cohort of neonates diagnosed with Gram-negative sepsis, the bacteriological profile and the antibiotic susceptibilities as well as to evaluate the appropriateness of the empirical antibiotic coverage. Material and methods:In this retrospective observational study, all Gram-negative pathogens isolated in the blood culture of neonates admitted to the neonatal unit in a tertiary referral hospital between January 2011and December 2015 were analyzed. Demographic data, causative organisms, antibiotic susceptibility, empiric therapy and outcomes were collected and analyzed. Results:Of the 2732 neonates admitted to NICU, 80 infants (2.9%) had a blood culture-proven sepsis with a Gram-negative pathogen. Klebsiella pneumonia was the commonest causative organism. Sensitivity to gentamicin and meropenem were 95% and 99% respectively. Mortality, necrotizing enterocolitis, periventricular leukomalacia, bronchopulmonary dysplasia, intraventricular hemorrhage, retinopathy of prematurity was more prevalent in affected infants. Conclusion:In our unit, neonatal sepsis caused by gram-negative organisms was highly sensitive to aminoglycosides. Almost all cases Gramnegative sepsis were adequately covered by carbapenem.