Objective: To compare the complications rate of percutaneous nephrostomy and double J ureteral stenting in the management of obstructive uropathy. Methodology: Total number of 300 patients of age 20-80 years who underwent JJ stenting or percutaneous nephrostomy for obstructive uropathy were included in this study. Patients were divided in two groups i.e. A & B. In group A, 100 patients who underwent double J ureteral stenting while in group B, 200 patients who underwent percutaneous nephrostomy tube insertion were included. The stent was inserted retrograde by using cystoscope, under mild sedation or local anesthesia. While the percutaneous nephrostomy was done under ultrasound guidance by using local anesthetic agent. Complications were noted in immediate post-operative period and on follow up. Results: Majority of the patients were between 36 to 50 years of age with male to female ratio was 2.6:1. The most common cause of obstructive uropathy was stone disease i.e. renal, ureteric or both. Post DJ stent, complications like painful trigon irritation, septicemia, haematuria and stent encrustation were seen in 12.0%, 7.0%, 10.0% and 5.0% patients respectively. On the other hand, post-PCN septicemia, bleeding and tube dislodgment or blockage was seen in 3.5%, 4.5% and 4.5% respectively. In this study, overall success rate for double J stenting was up to 83.0% and for percutaneous nephrostomy (PCN) was 92.0% (p<0.0001). Conclusion: Percutaneous nephrostomy is a safe and better method of temporary urinary diversion than double J stenting for management of obstructive uropathy with lower incidence of complications.

Objectives: From a genetic perspective, relatively little is known about how mass emigrations of African, European, and Asian peoples beginning in the 16th century affected Indigenous Caribbean populations. Therefore, we explored the impact of serial colonization on the genetic variation of the first Caribbean islanders. Materials and methods: Sixty-four members of St. Vincent's Garifuna Community and 36 members of Trinidad's Santa Rosa First People's Community (FPC) of Arima were characterized for mitochondrial DNA and Y-chromosome diversity via direct sequencing and targeted SNP and STR genotyping. A subset of 32 Garifuna and 18 FPC participants were genotyped using the GenoChip 2.0 microarray. The resulting data were used to examine genetic diversity, admixture, and sex biased gene flow in the study communities.

The study found a significantly high prevalence of HCV among the patients of Punjab. In addition, genotype 1a was found to be a significantly and rapidly increasing genotype in the study area. It appears that HCV-3a (the most prevalent genotype) may be replaced by genotype 1a. If this occurs, it will make the present scenario more complex in terms of response to therapy and economic burden on the health sector of Pakistan. HCV infection is more common in the age group of 21-40 years. All the genotypes were distributed at the same frequency in men and women.

Objective:To compare the rate of complications of Plastibell and bone cutter circumcision technique and recognition of top worries and satisfaction rate in the mind of parents before and after the procedure of Plastibell device (PD) circumcision in infants less than 6 months of age.Methods:It was a descriptive prospective study conducted at department of surgery Sheikh Zayed Hospital, Rahim Yar Khan. Two hundred parents of infants of less than six months of age were recruited for this study. Infants were divided into two equal groups. Group I included Plastibell circumcision technique and Group II included Bone Cutter Circumcision technique. Data was analyzed using SPSS Version 17. Independent sample t-test and chi-square test was used to compare quantitative and qualitative variables respectively. P-value <0.05 was taken as significant difference.Results:Total number of two hundred infants were included in this study. Most common worries of parents about Plastibell Device circumcision were; fear of fever (42.0%). Fear of pain and bleeding (66.0%). Plastibell Device method was associated with less operation time and bleeding as compared to bone cutter method (P-value <0.0001 and <0.0001 respectively). Incidence of complications other than bleeding and infection was 3.0% in bone cutter method and 1.0% in Plastibell device method. Pain score was significantly less in plastibell device group (p-value <0.0001). Post-operatively, 98% parents showed complete procedural satisfaction in Plastibell group versus 87% parents in bone cutter one month after surgery (P-value 0.003). About 4% parents in bone cutter method group showed cosmetic displeasure versus only 1% parents in plastibell device group.Conclusion:The study concluded that Plastibell Device circumcision is a safer technique for circumcision and is associated with highest level of parent’s satisfaction.

Charcot–Marie–Tooth disease (CMT) and autosomal recessive spastic ataxia of Charlevoix–Saguenay type (ARSACS) are large heterogeneous groups of sensory, neurological genetic disorders characterized by sensory neuropathies, muscular atrophies, abnormal sensory conduction velocities, and ataxia. CMT2EE (OMIM: 618400) is caused by mutations in MPV17 (OMIM: 137960), CMT4F (OMIM:614895) is caused by PRX (OMIM: 605725), CMTX1 (OMIM:302800) is caused by mutations in GJB1 (OMIM: 304040), and ARSACS (OMIM:270550) is caused by mutations in SACS (OMIM: 604490). In this study, we enrolled four families: DG-01, BD-06, MR-01, and ICP-RD11, with 16 affected individuals, for clinical and molecular diagnoses. One patient from each family was analyzed for whole exome sequencing and Sanger sequencing was done for the rest of the family members. Affected individuals of families BD-06 and MR-01 show complete CMT phenotypes and family ICP-RD11 shows ARSACS type. Family DG-01 shows complete phenotypes for both CMT and ARSACS types. The affected individuals have walking difficulties, ataxia, distal limb weakness, axonal sensorimotor neuropathies, delayed motor development, pes cavus, and speech articulations with minor variations. The WES analysis in an indexed patient of family DG-01 identified two novel variants: c.83G>T (p.Gly28Val) in MPV17 and c.4934G>C (p.Arg1645Pro) in SACS. In family ICP-RD11, a recurrent mutation that causes ARSACS, c.262C>T (p.Arg88Ter) in SACS, was identified. Another novel variant, c.231C>A (p.Arg77Ter) in PRX, which causes CMT4F, was identified in family BD-06. In family MR-01, a hemizygous missense variant c. 61G>C (p.Gly21Arg) in GJB1 was identified in the indexed patient. To the best of our knowledge, there are very few reports on MPV17, SACS, PRX, and GJB1 causing CMT and ARSACS phenotypes in the Pakistani population. Our study cohort suggests that whole exome sequencing can be a useful tool in diagnosing complex multigenic and phenotypically overlapping genetic disorders such as Charcot–Marie–Tooth disease (CMT) and spastic ataxia of Charlevoix–Saguenay type.

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