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)

The past five years have seen numerous advances in the field of pediatric infectious diseases, and many of these have a substantial impact on the practice of dermatology. We review some of these advances and discuss their implications on etiology, diagnosis, therapy and complications of some relatively common conditions. The etiologic agent of exanthum subitum (roseola infantum) has been clearly implicated as a herpesvirus-6. Although in the classically described situation high fever in a young child is followed by defervescence and rash, two new scenarios have been described associated with this virus. The first is fever without rash and the second is rash without fever. The etiologic agent of erythema infectiosum ("slapped cheek") has been shown to be a human parvovirus B19. The virus has also been associated with aplastic crises (in hemoglobinopathies), hydrops fetalis, and a syndrome of subacute arthralgias in women. The etiologic agent in cat-scratch disease has recently been shown to be a small pleomorphic bacillus that also can produce pyogenic granuloma-like lesions in patients with acquired immunodeficiency syndrome. The number of cases of congenital syphilis, particularly in large cities, is increasing tremendously. Many of these infants have received no prenatal care because of drug abuse problems in their parents. Finally, we describe the changing etiology of impetigo that is predominantly associated with Staphylococcus aureus. We further describe the growing resistance to erythromycin and several new erythromycin drug-drug interactions.
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PMID:Recent advances in pediatric infectious diseases and their impact on dermatology. 206 33

The clinical features of long bone infarction in patients with sickle cell disease have not been well defined, and differentiation of bone infarct from osteomyelitis has accordingly been difficult. We reviewed records from 192 children with sickle hemoglobinopathies and identified 41 episodes of acute long bone infarction in 21 patients. The most commonly affected bones were the humerus (38%), tibia (23%), and femur (19%). The distal segment was more commonly involved. Tenderness and prominent swelling occurred in all cases; other findings included impaired joint motion (68%), local heat (65%), and erythema (145). Fever was usually absent or low grade, and patients did not appear ill. Laboratory studies included negative bacterial cultures in all cases, absence of left shift in WBC count in most, and variable erythrocyte sedimentation rate. Plain roentgenographs were unremarkable. Contrary to previous reports, radionuclide bone and bone marrow scans were not helpful in differentiation of bone infarction from osteomyelitis. Patients received supportive therapy and improved within several days. Long-term sequelae were not evident. The rarity of osteomyelitis in our sickle cell population (five cases in 22 years) precluded direct comparison of most of its clinical features with those of bone infarction. Acute long bone infarction is at least 50 times more common than bacterial osteomyelitis in sickle cell disease.
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PMID:Acute infarction of long bones in children with sickle cell anemia. 709 7

Sickle cell disease is a hemoglobinopathy that results in paroxysmal arteriolar occlusion and tissue infarction that can manifest in a plurality of tissues. Rarely, these infarcted crises manifest in the bony orbit. Orbital infarction usually presents with acute onset of periorbital tenderness, swelling, erythema, and pain. Soft tissue swelling can result in proptosis and attenuation of extraocular movements. Expedient diagnosis of sickle cell orbital infarction is crucial because this is a potentially sight-threatening entity. Diagnosis can be delayed since the presentation has physical and radiographic findings mimicking various infectious and traumatic processes. We describe a patient who presented with sickle cell orbital crisis without pain. This case highlights the importance of maintaining a high index of suspicion in patients with known sickle cell disease or of African descent born outside the United States in a region where screening for hemoglobinopathy is not routine, even when the presentation is not classic.
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PMID:Orbital Infarction due to Sickle Cell Disease without Orbital Pain. 2789 Dec 73