ABSTRACT
OBJECTIVES: The objectives of this study were to determine the safety of the Plastibell device (PD) circumcision in neonates, infants, and older children. PATIENTS AND METHODS: A prospective, descriptive study was conducted in private clinics of district Poonch and district Sudhanuti Azad Kashmir, Pakistan, during the period from November 2014 to August 2017. Research was conducted in light of guidelines set by Helsinki declaration. Healthy male babies free of any clinical signs of illness and congenital anomaly were included in the study. The babies having weight <3 kg at the time of surgery were excluded from the study. The parents/guardian were explained about the procedure and informed consent was taken. The complications that developed postoperatively were recorded. The record of all cases was analyzed retrospectively for safety outcome and complications developed in neonates, infants, and older children. RESULTS: A total of 1000 cases including 655 (65.5%) neonates, 241 (24.1%) infants, and 104 (10.4%) children between 1 and 5 years of age were selected. The PD circumcision was done in all these cases. Of these, 93.5% neonates, 89.6% infants, and 66.3% children older than 1 years of age had no complications postoperatively. The complication rate was highest among the children between 1 and 5 years of age as compared to neonates and infants. The complications such as bleeding prepuce, hematoma, and swelling prepuce were higher in infants than neonates while superficial infection and buried glans were noted more in neonates than infants. CONCLUSION: It may be inferred from our findings that Plastibell circumcision is safer if done in the 1st year of life and younger the age better is prognosis in healthy male babies.
ABSTRACT
Purpose: Retinitis pigmentosa (RP) is a genetically heterogeneous trait with autosomal-recessive (ar) inheritance underlying 50% of genetic disease cases. Sixty-one arRP genes have been identified, and recently, DHX38 has been reported as a potential candidate gene for arRP with only a single family reported with a variant of unknown significance. We identified a missense variant in DHX38 that co-segregates with the arRP phenotype in two Pakistani families confirming the involvement of DHX38 in the etiology of early-onset RP. Methods: Exome sequencing was performed using two DNA samples from affected members of Pakistani families (MA88 and MA157) with early onset arRP. Sanger sequencing of DNA samples from all family members confirmed the segregation of candidate variant within both families. Results: A novel missense DHX38 variant c.971G>A; p.(Arg324Gln) was identified which segregates with the arRP phenotype and yielded a logarithm of the odds (LOD) score of 5.0 and 4.3 for families MA88 and MA157, respectively. This variant is predicted to be conserved and deleterious by several bioinformatics tools. Conclusions: We identified a second deleterious DHX38 variant that segregates with arRP in two families, providing additional evidence that DHX38 is involved in RP etiology. DHX38 encodes for pre-mRNA splicing factor PRP16, which is important in catalyzing pre-mRNA splicing.
