Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.10.2 (focal adhesion kinase)
44,029 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

50 chronic alcoholics reporting to the medical emergency ward of Basle University Hospital with alcohol-related illness were examined with respect to thiamine nutritional status by means of the transketolase activation test of erythrocytes (ETK). 46% of the chronic alcoholics, compared to only 2% of the control population (1152 healthy adults), had transketolase activation quotients indicating a strong probability of thiamine deficiency (alphaETK greater than 1.25). The most important symptoms associated with the biochemical parameters of thiamine deficiency were: anemia, pathologic liver functions (bilirubin, gamma-globulins), low diastolic blood pressure and Wernicke's encephalopathy. There was a statistically significant correlation (p less than 0.05) between these symptoms and the biochemical parameters for thiamine deficiency. Therefore, when treating chronic alcoholics, these symptoms should direct attention to a possible vitamin B1 deficiency. Since the enzymatic vitamin B1 parameters correlate with the patients' hemoglobin, our results would be consistent with anemia influenced by provision of thiamine.
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PMID:[Vitamin B 1 deficiency in chronic alcoholics and its clinical correlation]. 101 64

In the US and northern Europe, the prevalence of pregnant syphilitic women is estimated at .1-.6%, while in South Africa it was 7.6% in 1982. In 1978, there 108 cases in the US which increased to 268 reported cases in 1985. The increase of congenital syphilis (CS) by 25% from 1985 to 1988 was attributed to the spread of crack cocaine in the US. The rate was 10.5 cases/100,000 live births in the US during this period, a 21% increase. In contrast, in the Netherlands there were 2.5 cases/100,000 live births during 1982-85. Clinical symptoms appear 3 weeks after birth, but some are present at birth such as hepatosplenomegaly, bloated abdomen, cutaneous lesions, and nasal discharge turning into purulent rhinitis. Anemia occurs in 90% of children with CS. Generalized lymphadenopathy, splenomegaly with hepatomegaly, and syphilitic hepatitis may also occur. Syphilitic skeletal abnormalities include osteochondritis, periostitis, osteomyelitis, and osteitis. Meningovascular syphilis produces nervous system effects. CS complications include nephrotic syndrome and acute glomerulonephritis. Ocular abnormalities are caused by treponemes found in the cornea, sclera, uvea, retina and the optic nerve. Chorioretinitis and iridocyclitis are common ocular lesions. The pathogen Treponema pallidum can be diagnosed by dark field microscopy, by immunofluorescence, or by histopathological examination of silver-stained preparations. Pregnancy women with syphilis are treated with penicillin although failures have been reported after single or 2 or 3 in administrations of 2.4 MU benzathine penicillin and after giving tetracycline in 3rd trimester pregnancy. The CDC recommendation for treating infants with CS is iv 50,000 U/kg penicillin G every 8-12 hours for 10-14 days or im 50,000 U procaine penicillin once daily for 10-14 days. Single administration of 50,000 U/kg benzathine penicillin is recommended for newborn children whose mothers have been treated with erythromycin.
Int J STD AIDS
PMID:Congenital syphilis. 161 61

To assess the clinical and laboratory workload arising from human immunodeficiency virus (HIV)-related inpatient admissions in a London teaching hospital, a 10-month retrospective audit was performed of the casenotes of all HIV-infected inpatients admitted under the care of one consultant physician. During this period, 84 inpatients were identified who generated 371 admissions, of whom 71 (84.5%) had acquired immunodeficiency syndrome (AIDS). Over two-thirds of admissions were essentially day cases, attributed to blood transfusions, antimicrobial and tumour, chemotherapy, and minor surgery; with blood transfusions alone accounting for 43% of all admissions. Pulmonary infections (pyogenic and cell-mediated opportunist) accounted for 46 (12%) of admissions, with Pneumocystis carinii pneumonia second only to blood transfusions in caseload prevalence score (see below). Neurological complications of AIDS were associated with the longest admissions. Laboratory-based investigations were heavily utilized by AIDS inpatients, particularly bacteriological services. Choice of radiological investigation correlated with the anatomical site of disease presentation: plain radiology for chest symptoms, ultrasound for abdominal symptoms and computerized tomography (CT scanning) for neurological presentations. Drug-induced anaemia accounted for a substantial number of HIV-related admissions for red cell transfusions, which together with the disproportionate workload from daycase-type admissions, might be better handled in lower dependency day wards.
Int J STD AIDS
PMID:Analysing the workload from HIV inpatients: a 10-month retrospective study. 204 15

Aluminum (Al) overload in dialysis patients and experimental animals is associated with the development of anemia. However, the precise mechanisms of erythrocyte Al uptake and toxicity are poorly understood. Al accumulation, hemoglobin (Hb) synthesis and cell growth were evaluated in dimethylsulfoxide (DMSO)-induced Friend erythroleukemia cells (FEC), a model system for erythroid differentiation. FEC were grown in media containing either Al citrate, transferrin-aluminum (Tf-Al), Tf or no additions. Al accumulation occurring only in cells grown in Tf-Al containing media was detected at 24 hours and increased linearly up to 96 hours after induction. By 96 hours, 200 +/- 36 micrograms Al/liter lysed cells were detected in Tf-Al grown cells versus 5 +/- 1 micrograms Al/liter lysed cells in cells grown in Al citrate (P less than 0.001). Tf-Al inhibited Hb synthesis at 72 hours after induction. At 96 hours 50 +/- 15% cells were benzidine positive when grown in Tf-Al compared to 76 +/- 15% in Al citrate (P less than 0.001). FEC grown in increasing concentrations of Tf-Al (100 to 500 micrograms/ml) showed inhibition of Hb synthesis at lower concentrations of Tf-Al at 100 micrograms/ml than for cell growth at 300 micrograms/ml. Higher concentrations of Tf-Al (greater than 300 micrograms/ml) did not further inhibit Hb synthesis or cell growth. Iron (Fe) and Tf uptake were increased in Al loaded FEC compared to control cells. The increased Tf uptake was probably the result of increased Tf receptor expression on FES since Tf cell cycling time was unchanged. These data indicate that Al utilizes the Tf uptake pathway for entry into erythrocyte precursors. Al is toxic at sites distal to Fe uptake, possibly at the heme and/or globin synthetic pathways, resulting in decreased Hb synthesis and cell growth.
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PMID:Aluminum inhibits hemoglobin synthesis but enhances iron uptake in Friend erythroleukemia cells. 230 57

Apoptin, a small protein encoded by chicken anemia virus (CAV) was expressed in various human hematologic malignant cell lines derived from leukemias and lymphoma. Three of these cell lines contain bcl-2 or BCR-ABL proteins, known to block apoptosis induced by chemotherapeutic compounds. By immunofluorescence and propidium-iodide staining apoptin was shown to induce apoptosis in all analysed cell lines. Early after expression, apoptin exhibited a fine-granular distribution in the still intact nucleus. Later, apoptin became aggregated and the nucleus segmented. The data with truncated apoptin indicate that for optimal induction of apoptosis apoptin has to be located in the nucleus.
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PMID:Apoptin, a protein encoded by chicken anemia virus, induces cell death in various human hematologic malignant cells in vitro. 747 2

A 70-year-old male was admitted because of anemia in September 1989, and primary myelofibrosis was diagnosed based on the presence of leukoerythroblastosis, a normal chromosomal analysis and pathological findings of fibrosis in bone marrow. Although he was anemic, he did not require any treatment for two years. Then his hematological status deteriorated to severe pancytopenia, and the marrow biopsy revealed marked hypoplasia with fatty replacement and scattered fibrosis. He was treated with metenolon without success and frequent transfusion of packed red cell was required. This hypoplastic status continued for seven months. In May 1992 his WBC count increased gradually with monocytosis. The marrow was filled with various stages of monocytes, with almost no fibrosis remaining. The chromosomal analysis was repeated but disclosed no abnormalities, consistent with the negative result of BCR-ABL rearrangement investigated by the RT-PCR method. One month later, when the patient died of multiple cerebral bleeding and infection, the leukocyte count exceed 90,000/microliters. It is known that major causes of death for patients with primary myelofibrosis are infection, bleeding, cardiac trouble and transformation to leukemia. We describe a case of myelofibrosis who developed to chronic myelomonocytic leukemia following severe aplastic phase.
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PMID:[Transformation into chronic myelomonocytic leukemia in a patient with primary myelofibrosis associated with severe hypoplasia: report of an autopsy case]. 778 40

We describe a patient with Philadelphia chromosome (Ph1)-positive acute lymphoblastic leukaemia (ALL) who developed it 2.5 years after being diagnosed with myelodysplastic syndrome (MDS). The patient initially had refractory anaemia (RA), but progressed to refractory anaemia with excess blasts (RAEB) 2 years later, that terminated in ALL. An immunophenotypic analysis of the lymphoblasts revealed CD10 and CD19 positive cells. The karyotype was normal 46,XY in RA phase, 46,XY,20q-during the RAEB phase, and 46,XY,t(9;22)(q34;q11),20q-during the ALL phase. Furthermore, p190 BCR-ABL mRNA was detected in the ALL blasts. These findings indicate that this ALL arose from the MDS clone through multiple cytogenetic evolutions, the final event of which was the acquisition of p190 BCR-ABL type Ph1.
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PMID:Progression from myelodysplastic syndrome to acute lymphoblastic leukaemia with Philadelphia chromosome and p190 BCR-ABL transcript. 863 33

A cross-sectional study of a cohort of 49 male human immunodeficiency virus (HIV)-infected intravenous drug users attending the Infectious Diseases Unit of the National University of Malaysia during 1991-94 yielded a clinical profile of these patients. The mean age of respondents was 33.2 years and the mean duration of intravenous drug use was 12.7 years. On average, these men had known of their HIV-positivity for 53.2 weeks. Intravenous drug use was the only reported HIV risk factor in 34 men (69%). Clinical symptoms at intake included fatigue (49%), weight loss (47%), night sweats (31%), fever (14%), and diarrhea (6%), while clinical findings included hepatomegaly (57%), lymphadenopathy (35%), and oral thrush (29%). Anemia (82%), leucocytosis (53%), hypoalbuminemia (43%), hyperglobulinemia (88%), elevated liver enzymes and hyponatremia (57%) were frequent laboratory findings. The prevalences of hepatitis B virus, cytomegalovirus, and toxoplasma infection were 12.1%, 72.7%, and 59%, respectively. A total of 91 diagnoses were made in these 49 patients: most common were pneumonia, tuberculosis, bacteremia, infective endocardiditis, mycotic aneurysm, and psychiatric disorders. The mean duration of known progression to acquired immunodeficiency syndrome (AIDS) in the 7 patients at this stage was 391 days. Pneumocystis carinii pneumonia was the most common AIDS-defining illness. Three months into the study, 19 men (57%) had defaulted, reflecting the difficulties of involving drug addicts in research and intervention projects. Moreover, 16 patients (33%) were first confirmed HIV-positive at presentation to the hospital, suggesting that many drug users' HIV status remains unknown until they develop symptoms requiring hospital care.
Int J STD AIDS 1997 Feb
PMID:A study of Malaysian drug addicts with human immunodeficiency virus infection. 906 11

Bone marrow of 61 HIV-1-infected patients and 23 control patients was examined to determine the incidence of B19 infection and its clinical impact in HIV-1-infected persons. Of the 61 HIV-infected patients studied, ages ranged from 22-47 years with a mean of 33.2 years. There was a man:woman ratio of 3.8:1. With regard to staging of HIV disease at the time of bone marrow sampling, 52 patients were CDC group 4, 5 patients were CDC group 3, and 4 patients were CDC group 2. Control patients, were not known to be HIV-1-infected, and had one of the following conditions: lymphoma, leukaemia, thrombocytopenia, thrombocytosis, anaemia, multiple myeloma, raised serum IgM. Thirteen of 61 HIV-infected patients and 0 of 23 control patients were positive for B19 DNA in bone marrow (two-tailed P value = 0.016). Within the HIV-infected group, the average haemoglobin among persons testing B19 DNA positive (n = 13) was 11.1 g/dl, compared with 11.5 g/dl among persons testing B19 DNA negative (n = 48). In conclusion, B19 persistence may be common and frequently subclinical in AIDS patients.
Int J STD AIDS 1997 Mar
PMID:Parvovirus B19 infection in AIDS patients. 908 29

Patients with chronic myeloid leukemia (CML) show the Philadelphia (Ph) translocation in more than 95% of the cases. The remaining cases, without the cytogenetic or molecular equivalent of the BCR-ABL rearrangement, are "Philadelphia negative" and may have alternate chromosomal aberrations. Ph negative CML patients are known to have a poor prognosis. We report on a young patient with a hypereosinophilic syndrome in the presence of a clonal translocation t(4;7) with a peripheral leukocytosis, a severe thrombocytopenia, and anemia at first presentation, who developed bone marrow changes typical of CML. Bone marrow function and hypereosinophilia improved only partially and temporarily under therapy. The patient died 10 months after diagnosis of diffuse leukemic embolism and organ infiltration resulting in paraplegia. The case demonstrates that beside "idiopathic" hypereosinophilic syndromes (HES), a proportion of such patients suffer from eosinophilic leukemias. In these cases, karyotype analysis may help to distinguish these states by the identification of clonal chromosomal abnormalities. A karyotype anomaly hitherto not reported can be added to the list of aberrations in hypereosinophilic states associated with myeloproliferative processes.
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PMID:Chronic myeloid leukemia associated hypereosinophilic syndrome with a clonal t(4;7)(q11;q32). 910 34


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