Risk Factors of Subependymal Hemorrhage-Intraventricular Haemorrhage in Preterm Infants

To determine the frequency and peaktime of occurrence of subependymal hemorrhageintraventricularhemorrhage (SEH-IVH) in preterminfants and to identify the predisposing risk factors.Methods: In this descriptive study consecutive liveborn babies (n=135), between the gestational ages of28-34 weeks, were enrolled. Information regardingweight, gestational age, mode of delivery andpresence of risk factors were recorded. Each newbornunderwent cranial ultrasound on designated daysand was followed up till the fourth week of lifeunless expired.Results: The frequency of SEH-IVH was found tobe 20.8%. The most vulnerable group in terms ofgestational age and weight were infants < 32 wksand weighing < 1.5 kg respectively. The peak age ofoccurrence of SEH-IVH was first three days of life.Risk factors found to be associated with SEH-IVHwere RDS with ventilation, exchange transfusionand thrombocytopenia.Conclusion: The incidence of SEH-IVH in infantsbetween 28-34 wks gestation is significantly high.The crucial period is the first three days of life andrespiratory distress syndrome (RDS) withventilation, exchange transfusion andthrombocytopenia carry the highest risk ofhemorrhage. There is a need to emphasize on theprevention of prematurity and optimum perinatalmanagement to minimize the risk of hemorrhage

Identification of novel LEPR mutations in Pakistani families with morbid childhood obesity

Abstract Background Mutations in the genes encoding leptin (LEP), the leptin receptor (LEPR), and the melanocortin 4 receptor (MC4R) are known to cause severe early-onset childhood obesity. The aim of the current study was to examine the prevalence of damaging LEP, LEPR, and MC4R mutations in Pakistani families having a recessive heritance of early-onset obesity. Methods Using targeted resequencing, the presence of rare mutations in LEP, LEPR, and MC4R, was investigated in individuals from 25 families suspected of having autosomal recessive early-onset obesity. Segregation patterns of variants were assessed based on chip-based genotyping. Results Homozygous LEPR variants were identified in two probands. One carried a deletion (c.3260AG) resulting in the frameshift mutation p.Ser1090Trpfs*6, and the second carried a substitution (c.2675C > G) resulting in the missense mutation p.Pro892Arg. Both mutations were located within regions of homozygosity shared only among affected individuals. Both probands displayed early-onset obesity, hyperphagia and diabetes. No mutations were found in LEP and MC4R. Conclusions The current study highlights the implication of LEPR mutations in cases of severe early-onset obesity in consanguineous Pakistani families. Through targeted resequencing, we identified novel damaging mutations, and our approach may therefore be utilized in clinical testing or diagnosis of known forms of monogenic obesity with the aim of optimizing obesity treatment