Abstract:
Objective:To determine clinical manifestations and laboratory findings in patients with BSS diagnosed through platelet aggregometry followed in a tertiary care hospital in Lahore, Pakistan. Methods:The retrospective study comprised patients who presented in Hematology and Transfusion Medicine Department of The Children Hospital & Institute of Child Health, Lahore with the relevant diagnosis from 2006 to 2013. The result of all the patients were collected on a predesigned proforma. Medical data was scrutinized to collect age, gender, clinical findings along with results of complete blood count, bleeding time and platelet aggregation studies for the diagnosis of Bernard Soulier Syndrome. Results:Among 49 patients, 26 patients were females and 23 males. The mean age of the patients was 5±2.5 years. 81% had a family history of consanguinity. The most common presenting symptom included epistaxis seen in 73.4% patients. Complete blood count demonstrated decreased platelets in 85.7% of patients ranging from 20 X 109/L to 130 X 109/L. Anemia was seen in 67.3% and 93.8% had prolonged bleeding time. Peripheral blood smears demonstrated giant platelets in all patients. The majority of patients 65.3% had mild bleeding episodes. Platelet aggregation studies showed normal aggregation with ADP, Collagen and Epinephrine in 100% of our patients whereas all showed no response of aggregation with Ristocetin. Conclusion:Our data is consistent with other reports regarding clinical presentation of BSS, but we report large number of BSS patients from our area, emphasizing significance to provide diagnostic services in Pakistan to find out exact magnitude of disease.
journal_name
Pak J Med Scijournal_title
Pakistan journal of medical sciencesauthors
Farhan S,Iqbal I,Ahmed Ndoi
10.12669/pjms.35.3.980subject
Has Abstractpub_date
2019-01-01 00:00:00pages
705-708issue
3eissn
1682-024Xissn
1681-715Xpii
PJMS-35-705journal_volume
35pub_type
杂志文章abstract:Objectives:To estimate the incidence of microvascular complications among subjects with type 2 diabetes at a tertiary care hospital. Methods:This retrospective longitudinal follow-up study assessed the data records of type 2 diabetic subjects who visited the outpatient department of Baqai Institute of Diabetology and ...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.345.15224
更新日期:2018-09-01 00:00:00
abstract:Background and Objectives:Learning is an interplay between cognition and environmental factors. Any learning environment, that fulfills the intrinsic and extrinsic needs of the students will probably lead to better and more promising learning outcomes. This study aimed to investigate the student perceptions of Learning...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.35.3.712
更新日期:2019-01-01 00:00:00
abstract:OBJECTIVES:(1) To compare the prevalence of preclinical atherosclerosis in diabetic vs. non-diabetic rheumatoid arthritis (RA) patients; (2) to determine the influence of classical and RA-related factors on atherosclerosis; (3) to assess the usefulness of combined carotid and femoral ultrasonography in detecting athero...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.315.7620
更新日期:2015-09-01 00:00:00
abstract:Objectives:Although Spinal anesthesia is the most common and safe anesthetic method for patients undergoing cesarean section, difficult access to it is a frequent problem in operating theaters. The predictive factors for the difficulty of spinal anesthesia in patients undergoing cesarean section were investigated. Met...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.35.6.1276
更新日期:2019-11-01 00:00:00
abstract:UNLABELLED:Objective : In this study, we aimed to investigate changes of peripheral Th17 and Treg cells frequencies in the newly-diagnosed Chronic Lymphocytic Leukemia (CLL) patients for 12 months. Methods : In this research, 50 CLL patients were enrolled. Circulating Th1, Th17 cells and CD4+CD25+Foxp3+Treg cells were ...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.305.5252
更新日期:2014-09-01 00:00:00
abstract:Objective:This study was conducted to explore factors that can impact psychological health and coping strategies to help health care professionals (HCPs) to perform their duties. Methods:A cross sectional survey was conducted using structured questionnaire electronically shared with the participants after ethical appr...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.36.7.2988
更新日期:2020-11-01 00:00:00
abstract:Background and Objective:The corona-virus (COVID-19) pandemic has had devastating impacts on not only the health and socio-economic conditions but also on the education sector in various countries. Consequently, the world of education entered a new era of E-learning. This descriptive study, thus, aims to evaluate the s...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.37.1.3124
更新日期:2021-01-01 00:00:00
abstract:OBJECTIVES:A number of studies conducted to assess the association between Clara cell 10-kDa protein (CC10) +38A/G polymorphism and susceptibility to asthma have yielded inconsistent and inconclusive results. In the present study, the possible association was assessed by a meta-analysis. METHODS:Relevant articles were...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章,评审
doi:10.12669/pjms.296.3724
更新日期:2013-11-01 00:00:00
abstract:Objective:To evaluate the concentration of N terminal proBNP (NT-proBNP) and partially the serum uric acid in the severe condition of aortic valve dysfunction for assessment of left ventricle hypertrophy. Methods:The study was conducted in the signal transduction lab department of biochemistry Quaid-I-Azam University,...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.35.1.148
更新日期:2019-01-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to evaluate the detection rate accuracy of Double-balloon Enteroscopy (DBE) after Capsule Endoscopy (CE) in patients with suspected small bowel diseases. METHODOLOGY:From January 2009 to March 2012, sixty-two patients with obscure small bowel diseases who underwent CE followed by DB...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.292.2927
更新日期:2013-04-01 00:00:00
abstract:OBJECTIVE:Finite element analysis was used to compare preoperative and postoperative stress distribution of a bone healing model of femur fracture, to identify whether broken ends of fractured bone would break or not after fixation dislodgement one year after intramedullary nailing. Method s: Using fast, personalized i...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:
更新日期:2014-03-01 00:00:00
abstract::Rosai-Dorfman disease (RDD) is rare and characterized by histiocytic proliferation and massive cervical lymphadenopathy. About 40% of patients have extra-nodal involvement. Opthalmic involvement is seen in 10% of cases. A case of orbital Rosai Dorfman disease in a 58 years old woman is presented here, who was misdiagn...
journal_title:Pakistan journal of medical sciences
pub_type:
doi:10.12669/pjms.294.3554
更新日期:2013-07-01 00:00:00
abstract:Objective:To develop a tool to evaluate faculty perceptions of assessment quality in an undergraduate medical program. Methods:The Assessment Implementation Measure (AIM) tool was developed by a mixed method approach. A preliminary questionnaire developed through literature review was submitted to a panel of 10 medica...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.341.14354
更新日期:2018-01-01 00:00:00
abstract:Objectives:To assess the immediate effect of TEAM® on trauma related knowledge of undergraduate medical students and to highlight the stakeholders' acceptability of TEAM® for trauma training of undergraduate medical students. Methods:Effectiveness of TEAM® course in terms of knowledge gain was assessed using 20-item-M...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.36.6.2588
更新日期:2020-09-01 00:00:00
abstract::Pakistan is experiencing a "double burden'' of disease. Under-development is associated with illnesses like infections and nutritional deficiency, and is accompanied with diseases linked with development, such as diabetes, hypertension, cancer and chronic kidney disease. In Pakistan, renal and genitourinary diseases a...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章,评审
doi:10.12669/pjms.36.ICON-Suppl.1718
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVE:Helicobacter Pylori (H.pylori) is one of the most important causes of dyspepsia and diagnosis can be made by invasive or non-invasive methods. One of the non-invasive methods, H.pylori stool antigen test (HpSA) is simple, fast and relatively inexpensive. According to this view with regard to gastric biopsy as...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.291.2865
更新日期:2013-01-01 00:00:00
abstract:Objective:Serum Vitamin-D plays pivotal role in inflammatory and infectious diseases; among them liver infections are more distinct. This study was aimed to determine Vitamin-D status in HCV-infected patients and healthy controls in Faisalabad, Pakistan. Methods:We performed randomized cross-sectional study of 74 indi...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.36.3.1490
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVE:Ectopic pregnancy in the interstitial part of the Fallopian tubes can be life-threatining considering the thin myometrial tissue surrounding the gestational sac and highly vascularization which may result in catastrophic haemorrhage when interstitium is ruptured. The diagnosis and management is challenging. C...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.332.12093
更新日期:2017-03-01 00:00:00
abstract:OBJECTIVES:This study aims to assess the effects of zinc supplementation on improving the appetite and its subscales in children. METHODS:This study was conducted in 2013 in Isfahan, Iran. It had two phases. At the first step, after validation of the Child Eating Behaviour Questionaire (CEBQ), it was completed for 300...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.306.6377
更新日期:2014-11-01 00:00:00
abstract::Sigmoid volvulus (SV) is the wrapping of the sigmoid colon around its mesentery, and sigmoid gangrene is a catastrophic complication of SV. Although the diagnosis of SV is generally not difficult, unfortunately, most of the clinical, laboratory and radiological signs are not pathognomonic in demonstrating sigmoid gang...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.35.1.295
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Breakpoint cluster region-Abelson (BCR-ABL) rearrangement or Philadelphia (Ph) chromosome in Chronic Myeloid Leukemia (CML) is derived from a reciprocal chromosomal translocation between ABL gene on chromosome 9 and BCR gene on chromosome 22. This chimeric protein has various sizes and therefor...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:
更新日期:2014-07-01 00:00:00
abstract:Objective:To investigate the prevalence of obesity and associated factors during childhood in Southeastern Turkey. Another objective was to determine the cut-off points of Waist to Height Ratio (WHtR) values for defining obesity/abdominal obesity. Methods:The community-based descriptive cross-sectional study was condu...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.35.6.748
更新日期:2019-11-01 00:00:00
abstract:Objectives:Epilepsy is one of the most common chronic neurologic disorders in childhood and it affects 0.5-1% of children. The purpose of the study was to determine the prevalence and types of structural abnormalities in the epileptic children. Methods:The study was performed in Near East University and Dr. Suat Gunse...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.342.14807
更新日期:2018-03-01 00:00:00
abstract:OBJECTIVE:To compare anti-albumin urea effects of Valsartan alone with combination of Valsartan and Amlodipine in patients of chronic kidney disease. METHODS:This randomized clinical trial was conducted at the Department of Medicine, Combined Military Hospital Bahawalpur, from April 2014 to 30 September 2014. 140 pati...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.323.9541
更新日期:2016-05-01 00:00:00
abstract::Ralstonia mannitolilytica is a gram negative soil bacterium. Ralstonia infection though rare, has become the emerging nosocomial pathogens in hospital settings. Various clinical manifestations had been described as well as the mode of transmission. Despite its low virulence factor, it is able to survive under harsh co...
journal_title:Pakistan journal of medical sciences
pub_type:
doi:10.12669/pjms.334.13112
更新日期:2017-07-01 00:00:00
abstract:Objective:To evaluate the intra-operative scoring system to predict difficult cholecystectomy and conversion to open surgery. Methods:This descriptive study was conducted from March 2016 to August, 2016 in the Department of Surgery, Shalimar Hospital. The study recruited 120 patients of either gender, age greater than...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.341.13302
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:An early detection of osteoporosis through DEXA procedure will not only improve the disease management practices but also would help in impeding national productivity losses by mass screening and awareness. Our objective was to measure efficacy of DEXA procedure in early detection of osteoporos...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.306.5566
更新日期:2014-11-01 00:00:00
abstract:OBJECTIVE:To explore the correlation between magnetic resonance imaging (MRI) features of uterine fibroids (UFs) and therapeutic effects of high-intensity focused ultrasound ablation (HIFUA), and to provide evidence for UFs diagnosis with MRI in clinical practice. METHODS:Forty-three UFs patients who were treated in o...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.314.7294
更新日期:2015-07-01 00:00:00
abstract::The objectives of Master of Philosophy (MPhil) in Physiological Sciences are: 1) to describe the new ways in which anatomy, biochemistry and physiology on one hand, and microbiology, pathology and pharmacology on other hand meet their functional requirements through multidisciplinary integrated concepts; 2) to elucida...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.325.11481
更新日期:2016-09-01 00:00:00
abstract:Objective:To assess the value of endovenous laser ablation (EVLA) for treating great saphenous vein (GSV) incompetence. Methods:We reviewed the overall results of EVLA procedures performed on 554 patients in our clinic between March 2011 and December 2015. Evaluations were made concerning the situations of the great s...
journal_title:Pakistan journal of medical sciences
pub_type: 杂志文章
doi:10.12669/pjms.346.15683
更新日期:2018-11-01 00:00:00