Gaucher's Disease at a National Referral Hospital

Objectives: To determine the prevalence and to characterise Gaucher\'s disease in terms of socio-demographic data, clinical presentation, and management as seen at Kenyatta National Hospital. Design: A retrospective record based study. Setting: Kenyatta National Hospital, a referral and teaching hospital. Main outcome measures: Prevalence (number of cases seen a year), of Gaucher\'s disease, sociodemographic data, clinical presentation, mode of diagnosis and treatment modalities of Gauchers disease. Results: Nine patients were studied, four males and five females giving a prevalence of 0.9 cases seen a year and a M:F ratio of about 1:1. The most common presentation was splenomegaly in nine (100%) cases and hepatomegaly in seven (78%) patients, neurological and bone symptoms were rare, in one (11%) cases and in two (22%) cases respectively. Diagnosis was mainly on basis of presence of Gaucher cells in bone marrow and splenic aspirate as enzyme assay was unavailable. Management was mainly supportive and enzyme therapy was only available for two (22%) patients. Anaemia was the most common complication with seven (78%) patients and one death occurred due to osteomyelitis. Only four (44%) patients were followed up for a period of four years. Conclusions: Gaucher\'s disease is a rare condition at the Kenyatta National Hospital (KNH). The presentation of most patients is organomegaly, (hepatosplenomegaly) and best fits the type 1 or non-neuronopathic Gaucher\'s disease. Neurological manifestations are rare. Management of this condition at the KNH is mainly supportive and enzyme therapy still remains out of reach for most patients

Blood donor haematology parameters in two regions of Kenya

Objectives: To determine the status of blood donor haematology in two regional sites in Kenya and to assess the potential role of automated haematology in National blood bank process control. Design: A cross sectional descriptive study. Setting: Two regional blood banks - Nairobi and its environs (Blood Transfusion Services, Nairobi) and Western Region (National Blood Transfusion Services, Kisumu). Main outcome measures: Distribution, mean, median, and 95% percentile ranges of haemoglobin (Hb), red cell parameters (red cell count, haematocrit, MCV, MCH and MCHC), total and differential white blood cell (WBC) counts, and platelet counts in the two donor populations. Results: A significant number of donations (16.5% in Kisumu and 3.4% in Nairobi) showed haemoglobin levels below the recommended National Blood Transfusion Service (NBTS) guideline of 42g/unit. Compared to Kisumu, Nairobi donors had significantly (p0.05). A low MCV (0.6 x 109) was more prominent in Kisumu donors (18.8% versus 8.5%). Platelet counts were also significantly lower in Kisumu donors, with the prevalence of thrombocytopenia

Pediatric blood transfusion practices at a regional referral hospital in Kenya

Report of an audit of tranfusion blood use in a large Kenyan hospita

Excess Risk of Maternal Death from Sickle Cell Disease in Jamaica: 1998–2007

Background: Decreases in direct maternal deaths in Jamaica have been negated by growing indirect deaths. With sickle cell disease (SCD) a consistent underlying cause, we describe the epidemiology of maternal deaths in this population. Methods: Demographic, service delivery and cause specific mortality rates were compared among women with (n = 42) and without SCD (n = 376), and between SCD women who died in 1998–2002 and 2003–7. Results: Women with SCD had fewer viable pregnancies (p: 0.02) despite greater access to high risk antenatal care (p: 0.001), and more often died in an intensive care unit (p: 0.002). In the most recent period (2003–7) SCD women achieved more pregnancies (median 2 vs. 3; p: 0.009), made more antenatal visits (mean 3.3 vs. 7.3; p: 0.01) and were more often admitted antenatally (p:,0.0001). The maternal mortality ratio for SCD decedents was 7–11 times higher than the general population, with 41 % of deaths attributable to their disorder. Cause specific mortality was higher for cardiovascular complications, gestational hypertension and haemorrhage. Respiratory failure was the leading immediate cause of death. Conclusions: Women with SCD experience a significant excess risk of dying in pregnancy and childbirth [MMR: (SCD) 719/ 100,000, (non SCD) 78/100,000]. MDG5 cannot be realised without improving care for women with SCD. Tertiary services (e.g. ventilator support) are needed at regional centres to improve outcomes in this and other high risk populations. Universal SCD screening in pregnancy in populations of African and Mediterranean descent is needed as are guidelines fo

Familial clustering of Leiomyomatosis peritonealis disseminata: an unknown genetic syndrome?

BACKGROUND: Leiomyomatosis peritonealis disseminata (LPD) is defined as the occurrence of multiple tumorous intraabdominal lesions, which are myomatous nodules. LPD is a rare disease with only about 100 cases reported. The usual course of LPD is benign with the majority of the patients being premenopausal females. Only two cases involving men have been reported, no syndrome or familial occurrence of LPD has been described. CASE PRESENTATION: We describe a Caucasian-American family in which six members (three men) are diagnosed with Leiomyomatosis peritonealis disseminata (LPD) and three deceased family members most likely had LPD (based on the autopsy reports). Furthermore we describe the association of LPD with Raynaud's syndrome and Prurigo nodularis. CONCLUSION: Familial clustering of Leiomyomatosis peritonealis disseminata (LPD) has not been reported so far. The etiology of LPD is unknown and no mode of inheritance is known. We discuss possible modes of inheritance in the presented case, taking into account the possibility of a genetic syndrome. Given the similarity to other genetic syndromes with leiomyomatosis and skin alterations, we describe possible similar genetic pathomechanisms

Do pediatricians manage influenza differently than internists?

<p>Abstract</p> <p>Background</p> <p>Little is known about how pediatricians or internists manage influenza symptoms. Recent guidelines on antiviral prescribing by the Centers for Disease Control and Prevention (CDC) make almost no distinction between adults and children. Our objective was to describe how pediatricians in two large academic medical institutions manage influenza and compare them to internists.</p> <p>Methods</p> <p>At the end of the 2003–4 influenza season, we conducted a cross sectional on-line survey of physician knowledge, attitudes and practices regarding rapid diagnostic testing and use of antiviral therapy for influenza at two large academic medical centers, one in Massachusetts and the other in Texas. We collected data on self-reported demographics, test use, prescribing practices, and beliefs about influenza and anti-influenza drugs.</p> <p>Results</p> <p>A total of 107 pediatricians and 103 internists completed the survey (response rate of 53%). Compared to internists, pediatricians were more likely to perform rapid testing (74% vs. 47%, p < 0.0001), to use amantadine (88% vs. 48%, p < 0.0001), to restrict their prescribing to high-risk patients (86% vs. 53%, p < 0.0001), and to believe that antiviral therapy could decrease mortality (38% vs. 22%, p = 0.01). Other beliefs about antiviral therapy did not differ statistically between the specialties. Internists were more likely to be unfamiliar with rapid testing or not to have it available.</p> <p>Conclusion</p> <p>Pediatricians and internists manage influenza differently. Evidence-based guidelines addressing the specific concerns of each group would be helpful.</p

Impact of Inconsistent Policies for Transfusion-Transmitted Malaria on Clinical Practice in Ghana

Background: Policies concerning the prevention of transfusion transmitted malaria (TTM) are the responsibility of blood transfusion services and malaria control programmes. To prevent spreading drug resistance due to over-use of malaria drugs, recent malaria treatment guidelines recommend prompt parasitological confirmation before treatment is started. In contrast, blood safety policies from the World Health Organisation (WHO) recommend presumptive malaria treatment for recipients of blood in endemic countries but evidence supporting this approach is lacking. Our study documented how these conflicting policies relating to malaria transmission through blood transfusion impact on clinical practice in a teaching hospital in West Africa. Methods/Principal Findings: We randomly selected and reviewed case notes of 151 patients within 24 hours of their receiving a blood transfusion. Transfusion practices including the confirmation of diagnosis and anti-malarial treatment given were compared across three departments; Obstetrics and Gynaecology (O&amp;G), Paediatrics and Medicine. Overall, 66 (44%) of patients received malaria treatment within 24 hrs of their blood transfusion; of which only 2 (3%) received antimalarials based on a laboratory confirmation of malaria. Paediatric patients (87%) received the most anti-malarials and only 7 % and 24 % of recipients in medicine and O&amp;G respectively received anti malarials. In 51 patients (78%), the anti-malarials were prescribed at the same time as the blood transfusion and anti-malarials prescriptions exceeded the number of patient

Evaluation of internet access and utilization by medical students in Lahore, Pakistan

<p>Abstract</p> <p>Background</p> <p>The internet is increasingly being used worldwide in imparting medical education and improving its delivery. It has become an important tool for healthcare professionals training but the data on its use by medical students in developing countries is lacking with no study on the subject from Pakistan. This study was, therefore, carried out with an aim to evaluate the pattern of internet access and utilization by medical students in Pakistan.</p> <p>Methods</p> <p>A structured pre-tested questionnaire was administered to a group of 750 medical students in clinical years studying at various public and private medical colleges in Lahore. The questions were related to patterns of internet access, purpose of use and self reported confidence in performing various internet related tasks, use of health related websites to supplement learning and the problems faced by students in using internet at the institution.</p> <p>Results</p> <p>A total of 532 medical students (70.9%) returned the questionnaire. The mean age of study participants was 21.04 years (SD 1.96 years). Majority of the respondents (84.0%) reported experience with internet use. About half of the students (42.1%) were using internet occasionally with 23.1%, 20.9% and 13.9% doing so frequently, regularly and rarely respectively. About two third of the students (61.0%) stated that they use internet for both academic and professional activities. Most of the participants preferred to use internet at home (70.5%). Self reported ability to search for required article from PubMed and PakMedinet was reported by only 34.0% of the entire sample. Students were moderately confident in performing various internet related tasks including downloading medical books from internet, searching internet for classification of diseases and downloading full text article. Health related websites were being accessed by 55.1% students to supplement their learning process. Lack of time, inadequate number of available computers and lack of support from staff were cited as the most common problems faced by students while accessing internet in the institution premises. There were significant differences among male and female students with respect to the place of internet use (p = 0.001) and the ability to search online databases for required articles (p = 0.014).</p> <p>Conclusions</p> <p>Majority of the medical students in this study had access to internet and were using it for both academic and personal reasons. Nevertheless, it was seen that there is under utilization of the potential of internet resources to augment learning. Increase in awareness, availability of requisite facilities and training in computing skills are required to enable better utilization of digital resources of digital resources by medical students.</p