Background: In the developed world, 5-years survival of childhood acute myeloid leukaemia (AML) has improved to 70%. However, the survival rates in the developing world are below 40%. The main contributing factors to these reduced survival rates are a late presentation, malnutrition and high treatment-related mortality. Aim: To document the factors affecting treatment outcome of childhood AML at a tertiary care facility of Pakistan. Methods and Results: All newly registered cases of AML under 18 years of age from January 1, 2012 onwards who completed their treatment before November 30, 2019 were included. Data of 219 cases of AML containing 140 (63.9%) males and 79 (36.1%) females was analyzed. The mean age was 6.30 ± 3.66 years. Pallor was the commonest presenting features in 180 (82.2%) and M2 was the commonest French American-British (FAB) subtype in 103 (47.0%) cases. In univariate analysis, high white blood cells (WBC) count at presentation (P = .006), poor nutritional status (P = .005), unfavourable cytogenetics (P = .019), certain types of FAB AML subtype (P = .005), and use of etoposide in induction chemotherapy (P = .042) significantly adversely affected overall survival (OS). Neutropenic sepsis and bleeding were the major causes of treatment-related mortality. Response to induction chemotherapy was the most significant prognostic factor in the multivariate analysis (P = <.001). After a median follow-up of 40.96 ± 26.23 months, 5-year OS and DFS of the cohort were 40.6% and 38.3% respectively. Conclusions: In this largest cohort of childhood AML from Pakistan, high WBC count at presentation, malnutrition, unfavourable cytogenetics and use of etoposide during induction chemotherapy were associated with decreased OS and DFS rates. Response to the induction chemotherapy was the most significant prognostic factor.

Fanconi anemia (FA) is a recessive disorder that predispose to bone marrow failure and multiple congenital anomalies in affected individuals worldwide. To date, 22 FA genes are known to harbor sequence variations in disease phenotype. Among these, mutations in the FANCA gene are associated with 60% to 70% of FA cases. The aim of the present study was to screen FA cases belonging to consanguineous Pakistani families for selected exons of FANCA gene which are known mutational hotspots for Asian populations. Blood samples were collected from 20 FA cases and 20 controls. RNA was extracted and cDNA was synthesized from blood samples of cases. DNA was extracted from blood samples of cases and ethnically matched healthy controls. Sanger's sequencing of the nine selected exons of FANCA gene in FA cases revealed 19 genetic alterations of which 15 were single nucleotide variants, three were insertions and one was microdeletion. Of the total 19 sequence changes, 13 were novel and six were previously reported. All identified variants were evaluated by computational programs including SIFT, PolyPhen‐2 and Mutation taster. Seven out of 20 analyzed patients were carrying homozygous novel sequence variations, predicted to be associated with FA. These disease associated novel variants were not detected in ethnically matched controls and depict genetic heterogeneity of disease.

Objective: The study was conducted to assess the maternal health related quality of life and its affecting factors in postpartum period. Study Design: Analytical cross-sectional study. Place and Duration of Study: The study was done in a tertiary care hospital, Rawalpindi, from Mar to Jun 2019.Methodology: By using non-probability purposive sampling technique, sample of 268 women in post-partum period were interviewed. A validated short form-36 (SF-36) Questionnaire was administered to women aged 15-49 years, who had spontaneous vaginal delivery or cesarean section, and were within six weeks up to six months of postpartum period. Data was analyzed by using SPSS-22. A p-value of ≤0.05 was taken as significant. Results: Highest median scores were reported in physical functioning 75 (55, 90) and social functioning 75 (75, 62). Lowest median scores were reported in energy fatigue 37 (31, 50) body pain 45 (22, 62) and general health 45 (30, 60). Health-related quality of life scores showed significant difference (p-value <0.05) among subgroups of time since delivery, mode of delivery, education of women, husband’s education and antenatal visits. Conclusion: The study showed that health related quality of life score of postpartum women was moderately affected; where in physical and social functioning domains strongly contributes in better quality of life. Energy/fatigue, body pain and general health are the weakest domains adversely affecting quality of life. Women in subacute postpartum phase, with cesarean section, lower educational status and less than 04 antenatal visits are associated with poorer HRQOL.

The objective is to assess the overall quality of life (QoL) in patients who had undergone renal transplant within the last three years and correlate this index with various demographic variables such as age, gender, marital status, and education level and to correlate the QoL score calculated vs. the health status perceived by the patients themselves Materials and methodsThis was an analytical cross-sectional study, carried out over a period of five months. A total of 123 patients were targeted among which data from 79 patients were gathered including all the patients that underwent kidney transplantation in the past three years at a renal transplant center in CMH, Rawalpindi, Pakistan. Non-Probability convenience sampling was used, and data were collected using the WHOQOL-BREF tool that contained 25 questions targeted to four domains (physical, psychological, social, and environmental). The Questionnaire was administered over the phone with proper consent taken beforehand. Data were analyzed using Excel and SPSS version 23. ResultsA total of 79 patients were administered the questionnaire with the mean age of our study population being 35±11 years out of which 84.5% were male and 15.5% were female. Patients received the kidney from relative donors (98.4%) with the highest percentage being sister donors (30.9%). The majority of patients reported from Punjab (54.4%), with the rest from far-flung rural areas. An estimated 62.5% of the patients presented with other systemic/psychological disorders such as DM+, IHD, HTN, Hepatitis C, depression, etc. The mean global score of these patients was 79.21 which can be broken down into four domains, physical domain 80.40, psychological domain 78.99, social domain 82.70, and environmental domain 74.75. ConclusionIn a developing country such as Pakistan, with most of the patients belonging to lower or middle socioeconomic groups, we believe that the patient's own sense of QoL is overshadowed by the mere exuberance of being given a second chance at life which was portrayed by the discrepancies in the perceived vs actual QoL graph. One common recurring theme that was noticed whilst interviewing the patients was that the difficulties they might have faced post-transplant paled in comparison to how grateful they were to live another day. A positive trend was noticed between the time since transplant and the QoL score which could be attributed to various factors such as the use of aggressive immunosuppressants, fear of injury, fear of transplant rejection, etc. in the first-year post-transplant. Demographic variables such as income, age, location, etc. did not affect the scores of these patients on a great scale. The present study aims to guide clinicians in the improvement of long-term outcomes of renal transplantation in Pakistan.