Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Quantitative glycogen determinations can be made in single blood and bone marrow cells, using microspectrophotometry or microfluorometry after staining with variants of the periodic acid--Schiff (PAS) reaction. These PAS variant reactions generally do not indicate the presence of non-glycogen PAS-positive substances, known to be prevalent in various hematopoietic cells, possibly due to masking of reactive groups. The specificity of the reaction in blood cells was ascertained by alpha-amylase digestion, which removed more than 95% of the PAS-positive material. Calibration of the PAS reaction was undertaken with a microdroplet model of pure leukocyte glycogen. The glycogen amounts in the droplets were determined by microinterferometry, the droplets were stained with a variant PAS reaction, and the total extinction of the reaction product in the stained droplets was determined by microspectrophotometry. The extinction coefficient (k) was obtained from the equation k equals Etot divided by M where (Etot) is the total extinction as determined by microspectrophotometry and (M) the dry glycogen amount as determined by microinterferometry. The microinterferometric dry mass determinations were calibrated by X-ray absorption in order to obtain the absolute amounts of glycogen. For practical purposes a reference system was made of normal neutrophil leukocytes. The glycogen content in the reference neutrophils was first determined with the micromodel. These neutrophils, now with a known glycogen amount, were stained with the PAS reagents and measured microspectrophotometrically in parallel with cells containing an unknown glycogen amount. Alternatively, the staining was made with a fluorescent PAS reaction, and the glycogen content determined by microfluorometry. Both methods appeared suitable for determining the glycogen content of blood cells from patients with various diseases, though the microfluorometric method was preferable for measurements of small amounts of inhomogeneously distributed glycogen. The mean glycogen content of normal neutrophil leukocytes was found to be 13.6 times 10(-12) g. The content was increased in infectious diseases such as pneumonia and tonisillitis, as well as in polycythemia vera and myelofibrosis, while low amounts were found in untreated chronic myelocytic leukemia. In chronic myelocytic leukemia in remission, the glycogen content of mature neutrophils had completely normalized. Erythroblasts normally do not contain detectable amounts of glycogen. However, in certain diseases such as beta-thalassemia and Di Guglielomo's syndrome, appreciable amounts of glycogen accumulate in the erythropoietic precursor cells. In beta-thalassemia this was associated with an arrest in the proliferation of early polychromatic erythroblasts, which accumulate glycogen in the G1 phase of the cell cycle. In all these diseases quantitative glycogen determinations in the blood cells have diagnostic importance.
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PMID:Quantitative cytochemistry of glycogen in blood cells. Methods and clinical application. 107 52

Splenectomy for massive splenomegaly and hypersplenism carries a significant morbidity and mortality. We have used partial splenic embolization (PSE) as an effective alternative to splenectomy. Ten PSE procedures were performed on nine patients without mortality and with minimal morbidity. The age of the patients ranged from 8 months to 32 years (mean 14 years). The causes of splenomegaly and hypersplenism included cystic fibrosis with cirrhosis (2), tyrosinemia and cirrhosis (1); thalassemia (1), hemophilia with Human Immune Deficiency Virus infection (2), chronic hepatitis with portal hypertension (1), malignant histiocytosis (1), and Wiskott-Aldrich Syndrome (1). All procedures were performed under local anesthesia with sedation. A percutaneous femoral artery approach to the splenic artery was used to deliver Ivalon sponge particles (280-800 microns) into the spleen. Splenic infarction was assessed by postembolization angiograms. All of the patients except one demonstrated improvement of hematologic parameters. In one patient, however, cytopenia improved only after a second embolization. In the total series, there was an early mean rise of 8,600/mm3 in the leukocyte count (range 2,900-14,900) and 212,000/mm3 in the platelet count (range 30,000-718,000). Follow-up ranged from 4 months to 7 years. Improvement of the blood picture has been persistent in seven of the eight patients who showed initial improvement. Transient procedural complications included fever (5), pleural effusion (2), pneumonia (1), and splenic abscess (1). One patient had paralytic ileus lasting for 10 days and one patient developed a streptococcal peritonitis 3 weeks after embolization. No patient developed pancreatitis or vascular compromise of other abdominal viscera.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Partial splenic embolization. An effective alternative to splenectomy for hypersplenism. 226 5

The pattern of initial clinical symptoms and signs developing in a representative sample of 305 children with homozygous sickle cell (SS) disease diagnosed at birth was analyzed. Specific symptoms were present by age 6 months in 6% of the group, and had developed by the first to eighth birthdays in 32%, 61%, 78%, 86%, 90%, 92%, 94%, and 96%, respectively. Inclusion of nonspecific symptoms in the analysis led to earlier recognition by a mean of 3 months in the first year and by a mean of approximately 1 year between the ages of 2 and 4 years. Dactylitis was the most common initial symptom, noted in 40% of the group overall and in 50% in the first 2 years. Painful crisis was the first symptom in more than one fourth of the patients and was the most frequent symptom after the age of 2 years. Acute splenic sequestration led to presentation in one-fifth of the group overall and in one third of patients younger than 2 years. The most common nonspecific symptom was pneumonia. There was a significant trend of earlier presentation in children with low fetal hemoglobin levels. The age at presentation did not appear to be affected by alpha-thalassemia status.
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PMID:Clinical presentation of homozygous sickle cell disease. 258 6

About 120,000 infants are born each year with sickle cell disease (SCD) in Africa. The majority have Hb SS, but Hb SC and Hb S/beta+ thalassaemia are common in west Africa. The development of Plasmodium falciparum and P. malariae is partially inhibited in the Hb SS red cells, but malaria precipitates both haemolytic and infarctive crises, and is the commonest and most important cause of morbidity and mortality. The pneumococcus is likely to be the second major infectious cause of sickness and death. In one rural community, there were less than 2% of the expected number of subjects with SCD surviving beyond 5 years of age. Genetic factors improving prognosis include (1) the Senegal beta chain haplotype, which is linked to a high level of Hb F, and (2) alpha+ thalassaemia. Of environmental factors improving prognosis, the family is of first importance. The commonest age of presentation is 1-3 years. Children present with anaemic crises (malaria, splenic sequestration, folate deficiency, and possibly aplastic), infarctive crises (hand-foot syndrome, bone-pain, pulmonary and abdominal) or acute infections (malaria, pneumonia, septicaemia, meningitis, osteomyelitis). Tragically, many patients in central Africa have been infected by the human immunodeficiency virus (HIV) through blood transfusions; they present with generalised lymphadenopathy and other features of the acquired immunodeficiency syndrome (AIDS). The principles of management are (1) to ensure freedom from malaria, (2) to continue folic acid supplements, (3) to give blood transfusions only when anaemia endangers life, (4) to control pain, (5) to restore hydration, and (6) to prescribe broad spectrum antibiotics in large dosage and without delay, but only when there are definite indications, such as fever (greater than 39 degrees C), acute pulmonary disease, meningitis, and acute osteomyelitis. The advent of HIV and AIDS makes the control of SCD of even greater importance. Principles of control are (1) early diagnosis through appropriate laboratory techniques and selective screening, (2) education of parents, patients, health professionals and public, and (3) the maintenance of health at sickle cell clinics; measures must include antimalarial prophylaxis. SCD programmes should be integrated with primary health care and AIDS control programmes.
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PMID:The presentation, management and prevention of crisis in sickle cell disease in Africa. 265 Jul 73

Sixty-nine children with beta-thalassemia/E disease, hemoglobin H disease and beta-thalassemia major who were followed for at least 2 years before and after splenectomy were studied retrospectively for the results of the splenectomy. It was found that. 1. The hematocrit increased significantly in beta-thalassemia/E from 18 to 22 per cent, in hemoglobin H disease from 21 to 34 per cent and in beta-thalassemia major from 14-15 to 18-19 per cent. 2. The requirement of blood transfusions per year decreased significantly from 6 to 2 times in beta-thalassemia/E, 10 to 4-5 times in beta-thalassemia major and no transfusion was needed in hemoglobin H disease. 3. Postoperatively, there was a significant increase (p less than 0.05) in the liver size by the third year in beta-thalassemia/Hb E disease, and in the first year in beta-thalassemia major but the liver-size was decreased significantly by the fourth year in hemoglobin H disease. 4. Within 2 years postoperatively, the growth velocity in height kept up with their presplenectomy period in hemoglobin H and beta-thalassemia major (except two cases). The growth in weight kept up with their presplenectomy period in 40/49 cases (81.63%) in beta-thalassemia/Hb E but there was no change in the weight velocity in hemoglobin H and beta-thalassemia major. 5. There were 5 cases with immediate postoperative complications. Three cases had pneumonia, one case had septicaemia and one case had bleeding at the operative wound. Episodes of URI decreased in the post-operative period. Five cases of bacteremia developed within 6 years post-splenectomy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Results of the splenectomy in children with thalassemia. 273 35

From 1977 to 1984, Salmonella typhi was isolated from 85% and Salmonella paratyphl A was isolated from 15% of 192 Thai children with enteric fever at Children's Hospital, Bangkok. Children with enteric fever presented with sudden onset of fever and gastrointestinal symptoms. of fever presented with sudden onset Diarrhea occurred in 62% of children with paratyphoid fever and 36% of children with typhoid fever. Rose spots were seen in 15% of patients with typhoid and 7% of patients with paratyphoid fever. There were no deaths. Bronchitis and pneumonia occurring in 11% of patients were the most common complications. Acute hemolysis occurred in 3% of the patients with typhoid fever who had thalassemia or glucose-6-phosphate dehydrogenase deficiency. Chloramphenicol-resistant S typhi, which accounted for 70% of the isolates in 1977, has since 1982 accounted for less than 2% of isolates.
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PMID:Typhoid and paratyphoid fever in 192 hospitalized children in Thailand. 311 88

Thirty-five infants and children with beta-thalassemia major and 12 with beta-thalassemia trait were studied. Their ages ranged between 6 months and 12 years. Thirty-three were males and 14 females. Spontaneous rosette (E1-RFC), total rosette (E2-RFC), enumeration of T lymphocyte subsets using monoclonal antibodies (OKT3, OKT4, and OKT8), migration inhibition factor (MIF) assay and in vivo delayed hypersensitivity skin reactions were tested. Lower mean T cell population was present in thalassemia major but not the trait. The helper/suppressor ratio was decreased in patients with evidence of hypersplenism. Patients who had suffered from pneumonia or hepatitis manifested lower mean T cell count, depletion of helper cells and decreased helper/suppressor ratio. They also showed depressed delayed cutaneous hypersensitivity and MIF activity. Study of the cell-mediated immunity in patients with thalassemia might be useful to detect those who could be-more susceptible to infections.
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PMID:T cell functions in infants and children with beta-thalassemia. 312 38

A 5 year 9 month-old boy has received a bone marrow allograft for beta-thalassaemia major. Conditioning included busulfan: 16 mg/kg, cyclophosphamide 200 mg/kg and a (6 Gy) thoracoabdominal irradiation. After a 16 months follow-up, the child is currently in complete remission without treatment with all the markers of his donor. His 9 year-old sister has been allografted for beta-thalassaemia major, with the same conditioning regimen. After engraftment, rejection occurred at day 85 with severe aplastic anaemia. A second graft was performed with the same donor without engraftment and the patient died at day 18 of pneumonitis. A review of the literature is proposed and the ethical choices are discussed.
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PMID:[Major beta-thalassemia and bone marrow allograft. Two cases and a study of the literature]. 332 38

The DF given weekly by the RBIT in 14 thalassemia/hemoglobinopathy patients decreased the frequency of URIs and febrile illnesses in 5/10 patients. Five of the six patients had absence of frequent enteritis. There were no instances of pneumonia and otitis media in two patients with frequent infections before DF. Skin color was improved within 3 months. Most of the patients became more active at the same hematocrit level. The height and weight in eight patients was normal. The total number of blood transfusions in all patients was significantly decreased. It is advisable to use weekly DF infusion by RBIT in the patient who cannot afford to use the infusion pump and the full program of iron chelation.
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PMID:Rubber band technique for slow subcutaneous infusion of desferrioxamine (Desferal). 339 May 34

Cytomegalovirus (CMV) pneumonia frequently occurs in immunocompromised hosts. Unlike encapsulated bacteria and Mycoplasma, CMV pneumonia has not been reported in sickle cell disease. We describe a case of a healthy young man with sickle cell thalassemia who died with CMV pneumonia.
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PMID:Cytomegalovirus pneumonia in sickle cell disease. 608 44


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