Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 [Crumbs homologue 1] Mutations in Iranian Retinal Degeneration Families

Background: Inherited retinal diseases [IRDs] are a group of genetic disorders with high degrees of clinical, genetic and allelic heterogeneity. IRDs generally show progressive retinal cell death resulting in gradual vision loss

IRDs constitute a broad spectrum of disorders including retinitis pigmentosa and Leber congenital amaurosis. In this study, we performed genotyping studies to identify the underlying mutations in three Iranian families

Methods: Having employed homozygosity mapping and Sanger sequencing, we identified the underlying mutations in the crumbs homologue 1 gene. The CRB1 protein is a part of a macromolecular complex with a vital role in retinal cell polarity, morphogenesis, and maintenance

Results: We identified a novel homozygous variant [c.1053-1061del; p.Gly352-Cys354del] in one family, a combination of a novel [c.2086T>C; p.Cys696Arg] and a known variant [c.2234C>T, p.Thr745Met] in another family and a homozygous novel variant [c.3090T>A; p.Asn!030Lys] in a third family

Conclusion: This study shows that mutations in CRB1 are relatively common in Iranian non-syndromic IRD patients

VAAFT: video assisted anal fistula treatment; bringing revolution in fistula treatment

To share our findings that the new treatment modality Video Assisted Anal Fistula Treatment [VAAFT] is a better alternate to the conventional treatments of Fistula in Ano in our setup with minor changes in the initial method described by Meinero. Karl Storz Video equipment including Meinero Fistuloscope was used. Key steps are visualization of the fistula tract, correct localization of the internal fistula opening under direct vision and endoscopic treatment of the fistula. This is followed by an operative phase of fulguration of the fistula tract using glycine solution mixed with manitol, curetting the tract with curette and fistula brush. Internal opening is closed with a Vicryl 1 suture. Total of 40 patients were operated using VAAFT from October 2013 to March 2014. Three were re-operated. The other 37 cases were followed up at 6 weeks, 3 months and 6 months. Primary healing took place in 20 [50%] cases at 6 weeks. In the remaining 17 [42.5%] cases, minor discharge occurred with itching which resolved till the next visit at 8 weeks and 12 weeks. As the main aim in treating fistula is proper identification of the internal opening, excision of the tract and sparing the sphincter function, VAAFT achieves all aims with additional benefits of patients' satisfaction and negligible scaring

Transabdominal preperitoneal laparoscopic inguinal hernia repair

To determine the outcome of transabdominal preperitoneal [TAPP] inguinal hernia repair. Descriptive study. At Surgical C Unit, Khyber Teaching Hospital Peshawar, from April 2010 to June 2011. A total of 88 patients, aged between 16-60 year were included in the study and subjected to transabdominal preperitoneal inguinal hernia repair. The outcome measures such as operative time, length of hospital stay and postoperative complications were analyzed. The mean age of patients was 38.64 +/- 9.04 year. The mean operative time was 60.13 +/- 14.76 minutes. The mean hospital stay was 1.45 +/- 0.72 days. The postoperative complications were urinary retention [n=1 - 1.1%], wound hematoma [n=1 - 1.1%], surgical site infection [n=2 - 2.2%] and recurrence of hernia [n=1 - 1.1%]. Transabdominal preperitoneal inguinal hernia repair is associated with minimal complications but requires a long learning curve

Congenital talipes equinovarus

To determine the functional outcome of one stage posteromedial release in congenital clubfoot in terms of functional and radiological assessment. Forty five patients having clubfoot deformity were included in the study. Fifteen patients had bilateral deformities. The outcome was evaluated by functionally assessing the foot in the last review visit [at the end of 14th week of surgery] using the rating system of McKay, which has ten categories and has a maximum score of 180 points. It rates the outcomes as excellent good, fair, poor and failure [Fig -1]. Radiological assessment is made by measuring various angles on anteroposterior and lateral radiograph of the foot with gonometer at 3, 6, 10 and 14 weeks after release [Table -II]. The values of talocalcaneal angle [measured during every visit] on AP and lateral views will be summated to yield talocalcaneal index, and an index of >40 degree was taken as normal. Forty five patients included in the study with clubfoot deformity. Out of these patients, 33 [73.33%] were males and 12 [26.66%] were females [table -I]. They were graded according to the McKay rating system. In this short term follow up of one year, the following results were observed. Thirty-nine [65%] patients had excellent results, 11 [18.33%] patients had good results, 3 [5%] patients had fair results and 7 [11.66%] patients had poor results [Fig-1]. No case can be labeled as failure. Mild to moderated clubfoot deformities can be successfully treated in children up to five years of age by one stage postero-medial release

Prevalence of diabetes mellitus in patients of chronic hepatitis C

Multiple reports indicate that detection of diabetes mellitus in hepatitis C virus infected patient would remain undiagnosed based on Fasting plasma Glucose criteria. In these cases, HbA1C levels proves to be a beneficial tool in detection of DM, as compared to FpG level alone. To detect DM with the help of serum HbA1C level and fasting plasma glucose level as an early marker of the disorder in HCV infected patients. Cross sectional study conducted at pathology department, Holy Family Hospital [HFH] Rawalpindi. Fasting venous blood samples [5 ml] were collected from 30 consecutive anti-HCV antibodies positive patients. Samples were analyzed for FPG, HbA[1c], total cholesterol and triglycerides. FPG of all 30 patients was normal. HbA[1c] of 20% [n 6] patients showed HbA1c >6.7% indicating DM, while in the remaining 80% [n 24] patients the level was normal [HbA1c

Is medical expulsive therapy an option for ureteral calculi?

To compare tamsulosin with simple observation in terms of lower ureteral stone expulsion. Randomized controlled trial. Surgical C unit, Department of surgery, Khyber Teaching Hospital Peshawar, from February 2008 to January 2009. The patients were divided into two groups. Group A patients were offered medical expulsive therapy [tamsulosin] while group B patients treated with observation receiving analgesics only. Data regarding age, gender, stone expulsion rate and time, and analgesic requirement were collected and analyzed. Frequency and percentages were calculated for categorical variables while mean +/- SD was used to express continuous variables. Chi square test and Student t test were used to compare categorical and numerical variables respectively. After randomization, 56 patients in group A and 55 patients in group B were analyzed. The mean age of patients in group A and B was 37.37 +/- 7.51 years and 37.90 +/- 10.34 years, respectively [p 0.756]. The mean stone size was 6.39 +/- 1.78 mm in group A compared to 6.47 +/- 1.71 mm in group B [p 0.81]. In tamsulosin group, for stone size of 5mm, 48 [86%] patients expelled the stone, while for the same stone size, expulsion noted in 30 [56%] patients in the observation group [p 0.001]. The expulsion rate in group A and B, for stone size of more than 5 mm, was 91% and 38%, respectively [p<0.001]. The mean time taken for stone expulsion was 8.32 +/- 2.73 days in group A and 12.23 +/- 2.12 days in group B [p<0.001]. Patients taking tamsulosin experienced significantly less pain attacks compared to patients on observation therapy [p 0.017]. Alpha blocker [tamsulosin] is a safe and effective treatment modality for distal ureteral stones of appropriate size

Does gender have an effect in the prevalence of types of glaucoma in Pakistani population?

To assess the prevalence of various types of glaucoma, blindness and severity of disease with respect to gender differences. A hospital based retrospective study. Study included 3021 patients presenting to glaucoma clinic. Type and severity of glaucoma in the patients was analyzed to determine the gender inequality. Data was analyzed with the statistical software SPSS. It was found that overall the ratio of males affected with glaucoma was higher then females [2.3: 1]. Males had a more prevalent POAG whereas females were suffering more from PCAG glaucoma. Although the overall prevalence was higher in males but the blindness rate in all types of glaucoma was greater in females. Due to severity in POAG surgery of greater number of females was performed. PEXG and NTG were more pronounced in males. Females have more prevalent PCAG while males have POAG. Overall the blindness rate in different types of glaucoma was high in females therefore the results of present study indicated that gender does have an effect in the prevalence and blindness due to different types of glaucoma