Medicine and Health Sciences Commons^™

Analysis Of 114 Pedigrees Of Renal Stone Patients: A Retrospective Review, Syed Raziuddin Biyabani, Jamsheer Jehangir Talati, Daniya Umer, Zehra Kazmi, Hussam Uddin Soomro, Rubab Mansoor

Section of Urology

Background: Renal and ureteric stones (RS) can form due to genetic, metabolic, environmental, and diet-hydration related factors. Studies have shown that patients with family history (FH) of RS have higher likelihood of recurrence.
Materials and methods: We conducted a retrospective cross-sectional study on 114 pedigrees to investigate the impact of FH on recurrence of RS and examine patterns of inheritance. Results: Family history of renal stone disease was found in 42% of all patients. There was a significant increase of stone recurrence in RS patients with a positive FH (p=0.001). Seventy-one percent of patients with recurrent stones had at least …

Congenital Factor Vii Deficiency In Children At Tertiary Health Care Facility In Pakistan, Muhammad Matloob Alam, Bushra Moiz, Karim Abdur Rehman, Priyanka Jethwani, Zehra Fadoo

Department of Paediatrics and Child Health

This study presents the demographics, clinical spectrum, and outcome of patients with congenital factor VII (FVII) deficiency at a tertiary care center over a period of 12 years. Of the 49 patients, 27 (55%) patients were males. Consanguinity was found in 92% of the patients. The median age of symptom onset was 2.4 (interquartile range [IQR]: 1.1-6.5) years with a median age of 5.8 (IQR: 3.1-10) years at diagnosis. Life-threatening complications like intracranial bleeding (ICB) and intra-abdominal bleeding (IAB) were observed in 8 (16.4%) patients. We found that 11 (55%) of the 20 patients with FVII coagulant activity (FVIIc) 5% …

Spinal Muscular Atrophy:Clinical Spectrum And Genetic Mutations In Pakistani Children, S. H. Ibrahim, Tariq Moatter, Ali Faisal Saleem

Department of Paediatrics and Child Health

Background: In Pakistan the rate of consanguineous marriages is high, thus, the chance of incidence of autosomal recessive disorders is likely to be high. The aim of this study is to investigate the clinical characteristics and genetics of spinal muscular atrophy (SMA) in children who presented to Aga Khan University, Karachi.
Materials and Methods: This study was a retrospective review of the medical charts of children (neonate: 15 years) with discharge diagnosis of SMA during last 10 years. Demographic features, consanguinity, and diagnostic analysis (including genetic analysis) were noted.
Results: During the study period 67 children had a discharge diagnosis …

Consanguinity Among The Risk Factors For Underweight In Children Under Five: A Study From Rural Sindh, S. F. Hasnain, S. K. Hashmi

Community Health Sciences

BACKGROUND: Malnutrition is a common problem, especially in developing countries. Of the 11 million children under 5 who die each year in the developing countries mainly from preventable causes, the death of about 54% are either directly or indirectly attributable to malnutrition. The objectives of this study were to assess the prevalence and associated factors for underweight in rural Sindh.METHODS: A cross-sectional survey was conducted in Jhangara Town, located in District Dadu, Sindh. Eight hundred children under 5 years of age were enrolled. A questionnaire was used to elicit required information and anthropometric measurements were made.RESULTS: The overall prevalence for …

Factor Xiii Deficiency In Children--Clinical Presentation And Outcome, Zehra Fadoo, Ali Faisal Saleem

Department of Paediatrics and Child Health

OBJECTIVE: To determine the demographic features and clinical outcome of children with Factor XIII deficiency.

STUDY DESIGN: Observational case series.

PLACE AND DURATION OF STUDY: The Aga Khan University Hospital, Karachi, from January 1996 to December 2006.

METHODOLOGY: Records of all hospitalized pediatric patients with discharge diagnosis of FXIII D, on the basis of factor XIII assay 5 mol/L urea test were retrospectively reviewed and abstracted on a pre-specified proforma. Demographic features, coagulation profile, family history and outcomes were noted.

RESULTS: A total of 10 charts were reviewed. There were 5 boys and 5 girls. Almost all the children (9/10) …