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

Hemoglobinopathies involving Hemoglobin S, like Hemoglobin SC disease, are characterized by anemia and vaso-occlusive crises. Vaso-occlusive crises can range in severity from localized pain to acute chest syndrome and myocardial infarction. These crises are usually brought on by stressors that induce hypothermia, hypoxia or acidosis, such as surgery [1]. Here we report a case of acute chest syndrome in a child with Hemoglobin SC disease following adenotonsillectomy and review of the literature regarding acute chest syndrome following adenotonsillectomy.
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PMID:Acute chest syndrome following adenotonsillectomy in a pediatric patient with Hemoglobin SC disease. 2574 94

Sickle cell disease (SCD) is one of the most common hereditary hemoglobinopathies worldwide, affecting almost 400,000 newborns globally each year. It is characterized by chronic hemolytic anemia and endothelial dysfunction, resulting in a constant state of disruption of the vascular system and leading to recurrent episodes of ischemia-reperfusion injury (I/RI) to multiple organ systems. I/RI is a fundamental vascular pathobiological paradigm and contributes to morbidity and mortality in a wide range of conditions, including myocardial infarction, stroke, acute kidney injury, and transplantation. I/RI is characterized by an initial restriction of blood supply to an organ, which can lead to ischemia, followed by the subsequent restoration of perfusion and concomitant reoxygenation. Recent advances in the pathophysiology of SCD have led to an understanding that many of the consequences of this disease can be explained by mechanisms associated with I/RI. The following review focuses on the evolving pathobiology of SCD, how various complications of SCD can be attributed to I/RI, and the role of timely therapeutic intervention(s) based on targeting mediators or pathways that influence I/R insult.
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PMID:Ischemia-Reperfusion Injury in Sickle Cell Disease: From Basics to Therapeutics. 3090 56

Salmonella infection predominantly causes four clinical syndromes: enteric fever, gastroenteritis, bacteremia, and asymptomatic carrier state. Salmonella osteomyelitis is an extremely rare manifestation of salmonella infection except in children with hemoglobinopathies. Salmonella osteomyelitis has been reported to mostly affect the diaphysis of long bones and lumbar spine. Here, we describe a case of salmonella osteomyelitis of the right 6th rib in a 74-year-old woman who presented with breast pain, swelling, high fever and local heat. Her medical history showed myocardial infarction; namely, at the age of 71, the patient had undergone the drug-eluting stent placement in the left anterior descending artery. A computed tomography (CT) scan at the first visit to another hospital showed a mass in the chest that invaded the ribs. 18F-fluorodeoxyglucose-positron emission tomography-computed tomography imaging showed a lesion suspected to be a mammary malignant tumor. A needle biopsy revealed mesenchymal cells and suspected mammary sarcoma. However, the osteomyelitis of the rib was diagnosed when pyogenic tissue was observed during an open biopsy. The bacterial culture examination identified Salmonella enterica. Surgical drainage and antibiotic treatment were performed. Importantly, there was no evidence for any underlying disease that could lead to an immunocompromised status of the patient. To our knowledge, this is the first report of salmonella osteomyelitis of the rib presenting in an older female that required differentiation from a mammary tumor. Clinicians should consider rib osteomyelitis when they find swelling and local heat in the female's breast tissue and detect no cancerous tissue.
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PMID:Salmonella Osteomyelitis of the Rib Mimicking a Mammary Tumor: A Case Report. 3272 73