Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Renal medullary carcinoma (RMC) is an aggressive neoplasm occurring almost exclusively in adolescents and young adults with sickle cell (SC) hemoglobinopathies, usually sickle cell trait (SCT) or hemoglobin SC disease. The most common presentations are hematuria and flank or abdominal pain. It is a highly malignant tumor, and responses to chemotherapy are rare and transient resulting in a dismal prognosis. A high level of suspicion is necessary when evaluating at risk patients presenting with hematuria or flank pain, as currently it appears that only early diagnosis could potentially alter the outcome of this disease. We report a case of RMC in a young male patient with SCT, who presented to the emergency department with low back pain and microscopic hematuria, clinically mimicking acute obstructing urolithiasis. Our case emphasizes the need to consider alternate diagnoses when evaluating computed tomography scans for acute flank pain.
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PMID:Renal medullary carcinoma: unsuspected diagnosis at stone protocol CT. 1740 14

The aim of this study is to review over a period of 5 years the clinical spectrum of rheumatic diseases seen in a tertiary hospital in Ouagadougou, Burkina Faso. A retrospective study of case records was conducted from March 1, 2006 to March 30, 2011 in the Rheumatology service, Department of Internal Medicine of the University Hospital Yalgado Ouedraogo. Of the 4,084 patients seen, 2,381 were women (58.30%) and 1,703 were men (41.70%). The mean age at disease onset was 42.12 years, ranging from 3 to 92 years. Among the rheumatologic conditions, mechanical and degenerative disorders were the most common, found in 3,053 cases (74.76%). Among these cases, spinal pathology predominated, especially low back pain (19.93 %). The frequency of osteoarthritis was 19.70 % (804 cases) with a predominance of knee osteoarthritis (657 cases). Infectious pathology was dominated by osteoarticular tuberculosis (48 cases), particularly Pott's disease (43.68% of infectious diseases). Among the cases of inflammatory arthritides, rheumatoid arthritis was the leading cause (116 cases or 2.84%). It was followed by spondyloarthropathies in which arthritis related to HIV predominated (21 out of 81 cases). Metabolic diseases were mainly represented by the gout (162 cases or 3.96%) with male predominance. Comorbidities included high blood pressure (46.57%), diabetes mellitus (13.78%), hemoglobinopathies (9.66%), epigastric pain (7.25%), and peptic ulcer confirmed by endoscopy (6.75%). Rheumatology in Burkina Faso is booming. The profile of rheumatologic diseases in Burkina Faso, after 5 years of practice, confirms the diversity and importance of these conditions dominated by a degenerative pathology of the spine and limbs, including infectious diseases such as Pott's disease and the inflammatory and metabolic diseases.
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PMID:Clinical spectrum of rheumatologic diseases in a department of rheumatology in Ouagadougou (Burkina Faso). 2471 17