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Diagnostic and Interventional Imaging Apr 2020Dactylitis refers to a global swelling of a finger or a toe giving it a clinical sausage-shape presentation. It is an extremely suggestive symptom as it guides the... (Review)
Review
Dactylitis refers to a global swelling of a finger or a toe giving it a clinical sausage-shape presentation. It is an extremely suggestive symptom as it guides the rheumatologist towards a shortlist of diagnoses. However, radiologists are less familiar with dactylitis. The aim of this review is to detail and illustrate the main causes of dactylitis using standard X-ray imaging, ultrasound, computed tomography and magnetic resonance imaging in order to make radiologists more familiar with this symptom by illustrating the various conditions that are associated with dactylitis including infection, peripheral spondyloarthritis, sarcoidosis, microcrystalline deposition, osteoid osteoma, and sickle cell disease.
Topics: Adult; Aged; Arthritis; Edema; Female; Finger Joint; Humans; Male; Middle Aged; Toe Joint; Young Adult
PubMed: 32001209
DOI: 10.1016/j.diii.2020.01.005 -
Orphanet Journal of Rare Diseases Jul 2020Though case reports and limited case series of Sickle cell disease in Sri Lanka have been reported previously, no attempt has been made hitherto to undertake a...
BACKGROUND
Though case reports and limited case series of Sickle cell disease in Sri Lanka have been reported previously, no attempt has been made hitherto to undertake a comprehensive genotypic-phenotypic analysis of this "rare" group of patients.
RESULTS
All accessible Sickle cell disease patients, totaling 60, including, 51 Sickle β-thalassaemia and 9 homozygous sickle patients were enrolled from seven thalassaemia treatment centres between December 2016-March 2019. The majority of patients were of Sinhalese ethnicity (n = 52, 86.67%). Geographically, two prominent clusters were identified and the distribution of Sickle haemoglobin in the island contrasted markedly with the other haemoglobinopathies. 3/ 9 homozygous sickle patients and 3/ 51 Sickle β-thalassaemia patients were receiving regular transfusion. Joint pain was the commonest clinical symptom among all sickle cell disease patients (n = 39, 65.0%). Dactylitis was significantly more common in homozygous sickle patients compared with the Sickle β-thalassaemia groups (p 0.027). Two genetic backgrounds sickle mutation were identified namely, Arab Indian and Benin. Among the regulators of Foetal hemoglobin in Sickle patients of the present study rs1427407 G > T seemed to be the most prominent modifier, with a significant association with Foetal haemoglobin levels (p 0.04).
CONCLUSIONS
Overall, the clinical course of the Asian version of Sickle cell disease in Sri Lanka appears to be milder than that described in India.
Topics: Anemia, Sickle Cell; Humans; India; Severity of Illness Index; Sri Lanka; beta-Thalassemia
PubMed: 32631379
DOI: 10.1186/s13023-020-01458-w -
Biology of Blood and Marrow... Oct 2019Sickle cell disease (SCD) is associated with significant morbidity, and allogeneic hematopoietic stem cell transplantation (HSCT) remains the primary curative treatment....
Sickle cell disease (SCD) is associated with significant morbidity, and allogeneic hematopoietic stem cell transplantation (HSCT) remains the primary curative treatment. Recently, the Brazilian Ministry of Health released a regulation that required the publically funded healthcare system to pay for HSCT for SCD patients with defined indications. We used an existing 2794-member SCD cohort established during 2013 to 2015 to characterize candidates for HSCT and estimate the number of possible donors. Of 2064 patients with SC anemia (SCA), 152 of 974 children (16%) and 279 of 1090 adults (26%) had at least 1 HSCT indication. The most common indication for transplant was stroke (n = 239) followed by avascular necrosis (n = 96), priapism (n = 82), cerebrovascular disease (n = 55), >2 vaso-occlusive episodes (n = 38), alloantibodies and chronic transfusion therapy (n = 18), and >2 acute chest syndrome episodes (n = 11). Increasing age, number of transfusions, abnormal transcranial Doppler, retinopathy, dactylitis, and use of hydroxyurea were more frequent in the 152 children with an indication for HSCT compared with 822 without (P < .001). Of 152 children and 279 adults meeting the eligibility definition, 77 (50%) and 204 (73%), respectively, had at least 1 non-SCD full sibling who could potentially serve as a donor. In conclusion, in a large cohort of SCA patients, 16% of children and 26% of adults had at least 1 indication for HSCT; these indications were associated with the severity of the disease. This study provides clinical data necessary for estimating the costs and infrastructure that would be required to implement HSCT in a public healthcare system.
Topics: Adolescent; Adult; Aged; Anemia, Sickle Cell; Child; Child, Preschool; Cohort Studies; Female; Hematopoietic Stem Cell Transplantation; Humans; Infant; Infant, Newborn; Male; Middle Aged; Transplantation Conditioning; Young Adult
PubMed: 31229639
DOI: 10.1016/j.bbmt.2019.06.013 -
Blood Cells, Molecules & Diseases Sep 2020Sickle cell disease (SCD) is a monogenic disease with multiple phenotypic expressions. Previous studies describing SCD clinical phenotypes in Nigeria were localized,...
BACKGROUND/OBJECTIVE
Sickle cell disease (SCD) is a monogenic disease with multiple phenotypic expressions. Previous studies describing SCD clinical phenotypes in Nigeria were localized, with limited data, hence the need to understand how SCD varies across Nigeria.
METHOD
The Sickle Pan African Research Consortium (SPARCO) with a hub in Tanzania and collaborative sites in Tanzania, Ghana and Nigeria, is establishing a single patient-consented electronic database with a target of 13,000 SCD patients. In collaboration with the Sickle Cell Support Society of Nigeria, 20 hospitals, with paediatric and adult SCD clinics, are participating in patient recruitment. Demographic and clinical information, collected with uniform case report forms, were entered into Excel spreadsheets and uploaded into Research Electronic Data Capture software by trained data clerks and frequency tables generated.
RESULT
Data were available on 3622 patients enrolled in the database, comprising 1889 (52.9%) females and 1434 (39.6%) children ≤15 years. The frequencies of Hb SS, Hb SC and Hb Sβ thalassemia in this data set were 97.5%, 2.5% and 0% respectively. Sixty percent, 23.8%, 5.9%, 4.8% and 2.5% have had bone pain crisis, dactylitis, acute chest syndrome, priapism and stroke respectively. The most frequent chronic complications were: leg ulcers (6.5%), avascular necrosis of bone (6.0%), renal (6.3%) and pulmonary hypertension (1.1%). Only 13.2% had been hospitalized while 67.5% had received blood transfusion.
CONCLUSION
These data on the spectrum of clinical phenotypes of SCD are useful for planning, improving the management of SCD across Nigeria and provide a foundation for genomic research on SCD.
Topics: Acute Chest Syndrome; Adolescent; Adult; Anemia; Anemia, Sickle Cell; Child; Female; Humans; Leg Ulcer; Male; Nigeria; Pain; Stroke; Young Adult
PubMed: 32504882
DOI: 10.1016/j.bcmd.2020.102438 -
Pediatric Health, Medicine and... 2022Sickle cell disease (SCD) refers to a group of hereditary disorders that result in faulty hemoglobin carriage by the red blood cells. This paper discusses an atypical...
Sickle cell disease (SCD) refers to a group of hereditary disorders that result in faulty hemoglobin carriage by the red blood cells. This paper discusses an atypical presentation of SCD in early infancy. Despite current literature suggesting protection by fetal hemoglobin in the first few months of life, we report a diagnosis of SCD at 2 months of age with severe symptoms requiring hospitalization. It is therefore important for clinicians to raise their clinical index of suspicion of SCD in children presenting with severe anemia even though they are less than 6 months old and do not present with classic dactylitis or pain syndromes. Expansion and sustained newborn screening programs for SCD in developing countries could help clinicians and parents plan for early treatment, appropriate prophylaxis, and improved management of SCD complications.
PubMed: 36536766
DOI: 10.2147/PHMT.S388147 -
Acta Bio-medica : Atenei Parmensis Jun 2023Symptomatic avascular necrosis (AVN) imposes a higher risk for acute care consumption in adults living with SCD. Symptomatic AVN, have higher rates of visits to the... (Review)
Review
Symptomatic avascular necrosis (AVN) imposes a higher risk for acute care consumption in adults living with SCD. Symptomatic AVN, have higher rates of visits to the emergency department, higher rates of admissions, and longer lengths of stay in hospitals. Properly timed diagnosis and early interventions can reduce morbidity and enhance the quality of life in these patients. Vaso-occlusion secondary to sickling leads to osteonecrosis of the joint/bone (AVN, dactylitis) and invites infection (osteomyelitis and septic arthritis). Understanding and awareness of the imaging features related to this major morbidity complication are essential for early diagnosis and prompt management. In about half of the patients with SCD, AVN can lead to chronic pain, particularly in the head of the femur and humerus. Humeral and femoral head AVN tend to be linked with each other. Vertebral bone compression and collapse secondary to AVN have also been reported. The diagnosis of AVN must be accurate, as the condition is complex requiring specific treatment according to the grade of bone and joint involvement. There are several classifications or staging systems used for grading bone and joint involvement. Knowledge of the image patterns and grade of affection in different joints and bones and the degree of progression of AVN lesions can markedly improve management decisions on AVN-specific surgical versus non-surgical interventions and improve patient outcomes. The aim of this report is to summarize the different imaging techniques and their role in the proper/early diagnosis and follow up of patients with AVN with detailed examples of the common sites involved.
Topics: Adult; Humans; Quality of Life; Radiography; Femur Head Necrosis; Humerus; Anemia, Sickle Cell
PubMed: 37326259
DOI: 10.23750/abm.v94i3.14714 -
The Indian Journal of Medical Research Apr 2020Homozygous sickle cell (SS) disease in Central India runs a more severe clinical course than reports from other areas of India. The current study was undertaken to...
BACKGROUND & OBJECTIVES
Homozygous sickle cell (SS) disease in Central India runs a more severe clinical course than reports from other areas of India. The current study was undertaken to compare the disease in Central India (Nagpur) with that in Jamaica, both populations defined by newborn screening.
METHODS
The Nagpur cohort included infants born to sickling-positive mothers from May 2008 to 2012, examined by high-pressure liquid chromatography and DNA analysis. The Jamaican cohort screened 100,000 consecutive non-operative deliveries between June 1973 and December 1981, analyzed by haemoglobin (Hb) electrophoresis and confirmed by family studies and compatible HbAlevels.
RESULTS
In Nagpur, 103 SS patients were detected, but only 78 (76%) were followed up. In Jamaica, 311 cases were followed from birth and compliance with follow up remained 100 per cent up to 45 years. In the Nagpur cohort all had the Asian haplotype, and 82 per cent of Jamaicans had at least one Benin chromosome; none had the Asian haplotype. Compared to Jamaica, Nagpur patients had higher foetal Hb, less alpha-thalassaemia, later development of splenomegaly and less dactylitis. There were also high admission rates for febrile illness and marked anaemia. Invasive pneumococcal disease occurred in 10 per cent of Jamaicans but was not seen in Nagpur.
INTERPRETATION & CONCLUSIONS
There were many differences between the disease in Nagpur, Central India and the African form observed in Jamaica. The causes of severe anaemia in Nagpur require further study, and reticulocyte counts may be recommended as a routine parameter in the management of SS disease. The role of pneumococcal prophylaxis needs to be determined in Nagpur patients. Future studies in India must avoid high default rates.
Topics: Anemia, Sickle Cell; Fetal Hemoglobin; Homozygote; Humans; India; Infant; Infant, Newborn; Jamaica
PubMed: 32461396
DOI: 10.4103/ijmr.IJMR_1946_18