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)

A four-year-old boy admitted for fever and a skin rash was diagnosed as having a rickettsial infection. Regenerative microcytic anemia and enlargement of the spleen were also found. Hemoglobin electrophoresis and a family study disclosed a combination of two heterozygous hemoglobinopathies, i.e., HbO Arab and beta-thalassemia. A male sibling had the same anomalies as the index patient and was free of symptoms.
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PMID:[Association of Hbo Arab/beta-thalassemia discovered fortuitously in 2 brothers]. 161 42

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 diverse manifestations of human parvovirus B19 infection have been well established. Erythema infectiosum, fetal hydrops, adult arthropathy, and aplastic anemia in patients with hemoglobinopathies or underlying immunocompromise have been described. Recently we successfully treated a patient who, after heart transplantation, had fever, rash, and pneumonia with respiratory failure caused by human parovirus B19. Human parovirus B19 has not been reported previously as a pathogen causing pulmonary disease after pediatric heart transplantation, and we wish to report it at this time.
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PMID:Severe pneumonia after heart transplantation as a result of human parvovirus B19. 803 18

Butyrates have been studied as cancer differentiation agents in vitro and as a treatment for hemoglobinopathies. Tributyrin, a triglyceride with butyrate molecules esterified at the 1, 2, and 3 positions, induces differentiation and/or growth inhibition of a number of cell lines in vitro. When given p.o. to rodents, tributyrin produces substantial plasma butyrate concentrations. We treated 13 patients with escalating doses of tributyrin from 50 to 400 mg/kg/day. Doses were administered p.o. after an overnight fast, once daily for 3 weeks, followed by a 1-week rest. Intrapatient dose escalation occurred after two courses without toxicity greater than grade 2. The time course of butyrate in plasma was assessed on days 1 and 15 and after any dose escalation. Grade 3 toxicities consisted of nausea, vomiting, and myalgia. Grades 1 and 2 toxicities included diarrhea, headache, abdominal cramping, nausea, anemia, constipation, azotemia, lightheadedness, fatigue, rash, alopecia, odor, dysphoria, and clumsiness. There was no consistent increase in hemoglobin F with tributyrin treatment. Peak plasma butyrate concentrations occurred between 0.25 and 3 h after dose, increased with dose, and ranged from 0 to 0.45 mM. Peak concentrations did not increase in three patients who had dose escalation. Butyrate pharmacokinetics were not different on days 1 and 15. Because peak plasma concentrations near those effective in vitro (0.5-1 mM) were achieved, but butyrate disappeared from plasma by 5 h after dose, we are now pursuing dose escalation with dosing three times daily, beginning at a dose of 450 mg/kg/day.
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PMID:Phase I study of the orally administered butyrate prodrug, tributyrin, in patients with solid tumors. 953 30

Although sarcoidosis has occasionally been associated with hemoglobinopathies, its association with dermatomyositis is extremely rare. A 24 y/o African American male with hemoglobin SC disease developed proximal weakness. He had heliotrope rash, muscle weakness, elevated serum CK, myositis by EMG, and no malignancy. A muscle biopsy confirmed dermatomyositis. Two years later, he was hospitalized with constitutional and respiratory symptoms and parotid enlargement. Chest X-ray and CT scan showed diffuse micronodular infiltration in both lungs and mediastinal lymphadenopathy. A transbronchial lung biopsy revealed non-caseating granulomata consistent with sarcoidosis. AFB and fungal stains and cultures were negative. Thus, in this case, sarcoidosis developed after or in association with dermatomyositis. A review of world's literature showed five other non-identical cases of dermatomyositis associated with sarcoidosis.
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PMID:Sarcoidosis and dermatomyositis in a patient with hemoglobin SC. A case report and literature review. 1095 67

The records of 22 children with parvovirus B19-induced aplastic crisis were reviewed. The group consisted of 16 children with sickle cell hemoglobinopathies and 6 with hereditary spherocytosis. Children presented to the hospital 0.5 to 8 days (mean, 2.4 days) after the onset of symptoms. The children with sickle-cell disease presented earlier (mean, 1.4 days) than did children with hereditary spherocytosis (mean, 5 days; P = 0.02. Fever was the most common symptom, occurring in 73% of children. Rash did not occur in either group. Reticulocyte counts began to rise 1 week after onset of illness associated with a rise in parvovirus B19-specific IgG antibody. These data suggest that parvovirus B19 infection in children with sickle-cell hemoglobinopathies and heredity spherocytosis differs from infection in normal children.
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PMID:Clinical presentation of parvovirus B19 infection in children with aplastic crisis. 1468 75

Fever of unclear origin is a clinical challenge in medical practice. Infectious diseases, neoplasms, and collagen vascular illnesses are its main causes in adults and children. Acute splenic sequestration crises, a known potentially fatal complication of sickle cell disease and sickle beta-thalassemia, are uncommon in beta-heterozygosis. We describe a case of prolonged recurrent episodes of fever with spontaneous resolution, commencing at age 10 in a 15-year-old boy with a history of hypochromic microcytic anemia attributed to a thalassemic trait. He was admitted twice to our university hospital for continuous-remittent fever with a pruritic, macular evanescent Still's skin rash, severe splenomegaly, leucopenia, thrombocytopenia, and sudden aggravation of anemia. Infectious, rheumatologic, autoimmune, and hematologic illnesses were excluded. A genetic-based study revealed heterozygosis of the beta-globin gene for a A>C (Thr>Pro) substitution at position 87 called Hemoglobin Valletta (alpha 2 beta 2 87 PRO) with a C>G transition in homozygosis in beta-globin intronic polymorphism intervening sequence 2 at nucleotide 745. After a follow-up period of 1 year without treatment, the young patient remains apyretic and in good general clinical health with persistent microcythemia and hepatosplenomegaly. Acute splenic sequestration crisis and related cytopenia may be an unusual complication of fever of unclear origin in a beta-thalassemic carrier of a Hemoglobin Valletta mutation and polymorphism in homozygosis of intervening sequence 2 at nucleotide 745. This hemoglobinopathy may predispose to a clinical phenotype of minor or intermediate thalassemia and, during a febrile illness, to hemoglobin instability and splenic sequestration.
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PMID:Fever of unclear origin and cytopenia because of acute splenic sequestration in a young immunocompetent carrier of beta-globin mutation for Hb Valletta. 1909 26