Oculocutaneous albinism (OCA) is a genetic disorder of melanin synthesis that results in hypopigmentation in hair, skin and eyes. OCA has been reported in individuals from all ethnic backgrounds but it is more common among those with Europeans ancestry. OCA is heterogeneous group of disorders and seven types of OCA are caused by mutations in TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4), SLC24A5 (OCA6) and C10oRF11 (OCA7) genes. However, MC1R gene variants have been reported that modify OCA2 phenotype but the knowledge about the function ofMC1R gene in melanogenesis, and genotype-phenotype association, in case of OCA, is limited. In this review article we present a comprehensive description of classification of OCA, role of MSH-R in melanin synthesis, the sequence variations in MC1R and their association with OCA. This review will enhance our understanding of MC1R gene variants involved in human OCA2 phenotype.

We aimed to elucidate prevalence and association of diabetic retinopathy (DR) in patients with diabetic foot ulcer (DFU) from Pakistan. In this cross-sectional study, about 225 DFU patients who underwent ophthalmic examinations within 6 months of diagnosis of foot ulceration were included. The medical records of 305 diabetic patients without DFU were included as controls. The association of DR with DFU was assessed by comparing DFU patients with proliferative DR (PDR) and DFU patients without PDR. Out of 225 DFU patients, 215 patients (95.6%) had DR and 169 patients (75.1%) had PDR. The prevalence of DFU was significantly greater (P = 0.0527) among the male diabetic patients, whereas advanced age of these patients (≥41 years) had a significant effect (P = 0.0286) on development and progression of PDR. A longer duration of diabetes (≥10 years) was identified as a significant contributing factor for the development of both DFU (P = 0.0029) and PDR (P = 0.0299). Moreover, the risk of PDR increased in diabetic patients with higher DFU grades (grade 3 and grade 4). In conclusion, retinopathy was prevalent in DFU patients. Therefore, DFU patients with advancing age and longer duration of diabetes should undergo retinal examinations for timely diagnosis and management of DR.

Objective: Studies on diabetic foot ulcers (DFU) involving a representative sample of patients in Pakistan are scarce. This study aimed to determine baseline characteristics of infected DFUs in patients hospitalised at the Pakistan Institute of Medical Sciences Islamabad. Method: In this cross-sectional study, carried out during May 2015 and June 2016, foot ulcer characteristics of patients with DFUs were investigated and documented. From infected DFUs, aerobic bacterial pathogens were isolated, identified and evaluated for antimicrobial susceptibility. Results: A total of 214 patients were recruited to the study, 62.6% of which were male, 90.2% were aged ≥40 years, 76.2% had type 1 diabetes and 78.5% had poor glycaemic control at time of presentation to hospital. Most patients had grade 3/moderate ulceration (based on the Wagner and International Working Group on the Diabetic Foot/Infectious Diseases Society of America criteria). Over half of the DFUs (57.9%) were of ≤3 months' duration and 70.1% were ≥3 cm2. Of the patients with deep infection grade ulcers, 26.6% underwent amputation, accounting for their prolonged hospital stay (≥20 days). Significant differences were observed between patients with type 1 and type 2 diabetes with DFUs in relation to gender (p≤0.0001), ulcer size (p=0.0421) and duration of hospital stay (p=0.0253). The most significant predictors for lower extremity amputation were osteomyelitis (p=0.0114), retinopathy (p=0.0001) and neuropathy (p=0.0001. Piperacillin/tazobactam was found to be an effective antibiotic against the most commonly isolated Staphylococcus non-aureus (35.48%), Pseudomonas aeruginosa (22.26%), and Staphylococcus aureus (20.96%) species indentified in the DFU infections. Conclusion: The findings of this study may be helpful in the optimal management and appropriate treatment of patients with infected DFUs.

Background: Prophylactic use of antibiotics before surgery is evidence-based practice for prevention of surgical site infections (SSIs). Aims: To investigate adherence to and surgeons' perception of antibiotic prophylaxis guidelines. Methods: A two-phase, cross-sectional prospective study conducted in two teaching hospitals. Phase 1: 6-month audit of prescriptions to investigate adherence rate to evidence-based guidelines. The important information was collected from medical charts through a predesigned proforma. Phase 2: self-administration questionnaire was used to investigate the surgeons' perception. Descriptive statistics, independent-sample Kruskal-Wallis test and multivariate linear regression analysis were performed using SPSS version 21.0. Results: A total of 866 eligible surgical cases (acute appendectomy; n = 418; 48.2%), laparoscopic cholecystectomy (n = 278; 32.1%) and inguinal hernia (n = 170; 19.7%) were investigated. Surgical antibiotic prophylaxis was prescribed in 97.5% of procedures. Out of these, 9.5% adhered to guidelines with respect to correct choice, 40% for timing, and 100% for dose and route (optimal value 100%). Most patients received ceftriaxone (n = 503; 59.5%) as prophylactic antibiotic. The questionnaire (good internal consistency; α ≥ 0.7) was filled out by 200 surgeons. More than half (69%) of participants thought that antibiotics were overused. Most surgeons perceive that poor adherence to treatment guidelines is due to poor awareness, underestimation of infection, lack of consensus, and disagreement with guidelines recommendations. Conclusions: Surgeons have positive perception that antibiotics should be used according to guidelines recommendations. However, we found poor treatment adherence to antibiotic prophylaxis guidelines.

Introduction: Evaluation of medication usage pattern is crucial for the better patient care, particularly for the geriatric who often have experience with multiple therapy and problems. This study was conducted to investigate the medication usage in elderly patients through a validated World Health Organization (WHO) indicators. Methods: A retrospective crossectional and non-interventional study was conducted in the geriatric outpatient departments in a teaching hospital (Islamabad, Pakistan). The patients aged ≥60 years visiting the geriatric medical outpatient and emergency department from September 2018 to April 2019 were selected through random systematic sampling technique. The collected information was evaluated according to the WHO recommendations. Results: A total of 3,792 drugs were prescribed (average drug per prescription= 5.2 (Range 4-8) in 720 elderly patients. Out of these, antimicrobials were prescribed in 76.4% (n=550), at least one injectable medication in 63.9% (n=460), generic prescribing in 30% (n=1141) and prescribing from National essential list/hospital formulary in 95.8% (n=3634) of the prescription. A statistically significant difference was observed between prescribing practices and WHO optimal values (P<0.001). The most frequently prescribed class of antimicrobials was cephalosporins (65.3%) and ceftriaxone (41%), ciprofloxacin (13.6%) and cefuroxime (10.7%) were the most commonly used antibiotics. Conclusion: The major problems identified in this study were polypharmacy, low generic prescribing, higher usage of antimicrobials and injectable. A special attention is required by the healthcare authorities for the better care of the geriatric patients.