European migration crises: The role of national hemoglobinopathy registries in improving patient access to care

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/137547/1/pbc26515.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/137547/2/pbc26515_am.pd

The role of religious leaders and faith organisations in haemoglobinopathies: a review

<p>Abstract</p> <p>Background</p> <p>Sickle cell disease (SCD) is now the most common genetic condition in the world including the UK with an estimate of over 12,500 affected people and over 300 new births per year. Blood transfusion therapy plays a very important role as a disease-modifying strategy in severe SCD e.g. primary and secondary stroke prevention and other acute life-threatening complications such as acute chest infections and acute multi-organ failure. Blood transfusion, however, carries a number of risks including alloimmunisation. There is the need to increase the level of awareness and education about SCD and also to increase blood donation drive among affected communities. These communities are mostly ethnic minority populations who are recognised to have poor access to health care services. Due to the strong impact of religion on these populations, faith organisations may provide potential access for health promotion and interventions.</p> <p>Methods</p> <p>A literature search was conducted to find studies published between 1990–2008 aimed at examining the influence of religious leaders and faith organisations in health, with particular reference to haemoglobinopathies.</p> <p>Results</p> <p>Eleven studies were reviewed covering a variety of health interventions. The findings suggest that involvement of religious leaders and faith organisations in health related interventions improved the level of acceptance, participation and positive health outcomes within the faith communities.</p> <p>Conclusion</p> <p>Religious leaders and faith organisations have the potential to influence health education, health promotion and positive health outcomes amongst members of their faith community. They also provide potential access to at-risk populations for increasing awareness about SCD, encouraging health service utilization and ethnic blood donor drives.</p

Rosai-Dorfman Disease: A previously unreported association with Sickle Cell Disease

BACKGROUND: Rosai-Dorfman Disease is an uncommon benign systemic histio-proliferative disease. This is the first time the disease, although more common in people of African descent, is described in association with Sickle cell disease. CASE PRESENTATION: A Nigerian boy born started a complex medical history with post-natal anemia of unknown origin. Subsequently he was diagnosed with Sickle Cell Anemia (Hb SS). At age 3 during a routine review, he was noted to have generalised massive lymphadenopathy. He had further reoccurrences of this lymphadenopathy, but investigations did not reveal the cause until age five. At this point, because of the progressive lymph node enlargement, a biopsy was performed, and he was diagnosed with Rosai-Dorfman Disease. Since that time, the child has had further episodes of intermittent massive lymphadenopathy, particularly associated with Sickle Crisis. His medical history has been further complicated by development of complications from Sickle Cell Disease, cardiomyopathy and an autoimmune hemolytic anemia with multiple alloantibodies. CONCLUSION: This case for the first time presents the co-existence of two diseases, of increased prevalence in those of African descent, but to date not described in the literature to occur concurrently

Sickle Cell Nephropathy: Current Understanding of the Presentation, Diagnostic and Therapeutic Challenges

Sickle cell nephopathy (SCN) begins early in childhood from failure of urinary concentration (hyposthenuria), albuminuria to hyperfiltration, hematuria and progression to falling glomerular filtration to end-stage renal disease and increased mortality. Renal involvement is more severe in homozygous individuals (HbSS) than in compound heterozygous patients (HbSC). The pathogenesis of SCN is multifactorial from hypoxia, acidosis, hemolysis, ischemia-reperfusion injury and albuminuria. The clinical manifestations depend on whether the main pathology is tubular, glomerular or a mixture of both abnormalities. This chapter offers a critical review of the recent literature and will highlight the pathophysiology, epidemiology, clinical manifestations and management of sickle cell nephropathy with particular focus on the major advance in the early diagnosis. Learning points: For SCN, the onset of hyperfiltration and albuminuria in infants and childhood is an opportunity to intervene early. There is no diagnostic markertest capable of detecting the onset of these changes. Moreover there is no reliable therapeutic agent to prevent or halt early changes due to SCN. The development of a marker of renal impairment in SCD such as such as Cystatin C assay if validated may be appropriate for wider clinical application

Deep Learning Framework for Spleen Volume Estimation from 2D Cross-sectional Views

Abnormal spleen enlargement (splenomegaly) is regarded as a clinical indicator for a range of conditions, including liver disease, cancer and blood diseases. While spleen length measured from ultrasound images is a commonly used surrogate for spleen size, spleen volume remains the gold standard metric for assessing splenomegaly and the severity of related clinical conditions. Computed tomography is the main imaging modality for measuring spleen volume, but it is less accessible in areas where there is a high prevalence of splenomegaly (e.g., the Global South). Our objective was to enable automated spleen volume measurement from 2D cross-sectional segmentations, which can be obtained from ultrasound imaging. In this study, we describe a variational autoencoder-based framework to measure spleen volume from single- or dual-view 2D spleen segmentations. We propose and evaluate three volume estimation methods within this framework. We also demonstrate how 95% confidence intervals of volume estimates can be produced to make our method more clinically useful. Our best model achieved mean relative volume accuracies of 86.62% and 92.58% for single- and dual-view segmentations, respectively, surpassing the performance of the clinical standard approach of linear regression using manual measurements and a comparative deep learning-based 2D-3D reconstruction-based approach. The proposed spleen volume estimation framework can be integrated into standard clinical workflows which currently use 2D ultrasound images to measure spleen length. To the best of our knowledge, this is the first work to achieve direct 3D spleen volume estimation from 2D spleen segmentations.Comment: 22 pages, 7 figure

Higher oxygen saturation with hydroxyurea in paediatric sickle cell disease.

INTRODUCTION: Sickle cell disease (SCD) is one of the most common inherited diseases worldwide. It is associated with lifelong morbidity and reduced life expectancy. Hydroxyurea (HU) has been shown to reduce the frequency and severity of vaso-occlusive episodes in SCD. Hypoxaemia and intermittent nocturnal oxygen desaturations occur frequently in children with SCD and contribute to the associated morbidity, including risk of cerebrovascular disease. OBJECTIVE: To evaluate the effect of HU on oxygen saturation (SpO2) overnight and on daytime SpO2 spot checks in children with SCD. METHODS: A retrospective review of children with SCD and respiratory problems who attended two UK tertiary sickle respiratory clinics and were treated with HU. Longitudinal data were collected from 2 years prior and up to 3 years after the commencement of HU. RESULTS: Forty-three children, 23 males (53%) with a median age of 9 (range 1.8-18) years were included. In the 21 children who had comparable sleep studies before and after starting HU, mean SpO2 was higher (95.2% from 93.5%, p=0.01) and nadir SpO2 was higher (87.2% from 84.3%, p=0.009) when taking HU. In 32 of the children, spot daytime oxygen saturations were also higher (96.3% from 93.5%, p=0.001). CONCLUSION: Children with SCD had higher oxygen saturation overnight and on daytime spot checks after starting HU. These data suggest HU may be helpful for treating persistent hypoxaemia in children with SCD pending more evidence from a randomised clinical trial

The impact of urbanization and wealth on house dust mite sensitization in children from north-central Nigeria

The impact of socio-economic status on the risk of allergy in African children is not clear. This was a cross sectional study including children aged 6–14 years from urban and rural settings in north-central Nigeria. Participants underwent skin prick tests to house dust mite (HDM) and an interview investigating socio-economic status through the Family Affluence Scale (FAS) based on a score of 0–6. A total of 346 children were enrolled (52.8% boys; mean age ± SD 9.6 ± 2.0 years), including 142 (41% of total) rural and 204 (59% of total) urban pupils. Prevalence of HDM sensitivity was 2.8% (4/142) in the rural setting and 15.6% (32/204) in the urban setting (P < 0.001). Among urban children, frequency of HDM sensitization was 8.6% (7/81) in the lowest socio-economic group (FAS 0–1), 13.1% (8/61) in the intermediate one (FAS 2–3) and 27.4% (17/62) in the highest one (FAS ≥ 4). Urbanization and increasing wealth are associated with a higher frequency of sensitization to HDM in Nigerian children

Low-dose hydroxycarbamide therapy may offer similar benefit as maximum tolerated dose for children and young adults with sickle cell disease in low-middle-income settings [version 1; referees: 2 approved]

The multiple clinical benefits of hydroxycarbamide in sickle cell disease are supported by a large body of evidence. The maximum tolerated dose (MTD) is the regimen recommended by guidelines from a panel of National Heart, Lung, and Blood Institute (NHLBI) experts, but other dosage regimens have been used in babies (BABY-HUG) 9 to 18 months old (20 mg/kg per day) and developing countries such as India (10 mg/kg per day); however, there has been no direct comparison of the efficacy, effectiveness, or cost-effectiveness of these different regimens. The purpose of this review was to investigate the current situation with various hydroxycarbamide regimens with particular relevance to low-middle-income countries. In regard to methodology, a literature review was undertaken by using multiple databases in PubMed and Google and the search terms included sickle cell disease, hydroxyurea, hydroxycarbamide, sickle cell anaemia, low-middle-income countries, Sub-Saharan Africa, and India. Although MTD regimens have been widely used in research, especially within North America, clinical trials elsewhere tend to use fixed-dose regimens. In a survey of haematologists across Europe and Africa, 60% (75% response rate) did not use the MTD regimen for hydroxycarbamide treatment of sickle cell disease. The recommendations are (1) for practical purposes to commence using fixed-dose hydroxycarbamide in line with BABY-HUG recommendations and then (2) to consider or propose a trial comparing MTD escalation with various fixed doses and to include as end points health-related quality of life, haemoglobin F levels, adherence, and cost-effectiveness