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

The relationship of disseminated aspergillosis with human immunodeficiency virus (HIV) infection is unclear. In the initial case definition of acquired immunodeficiency syndrome (AIDS) developed by the Centres for Disease Control (CDC), Atlanta, aspergillosis was included as an AIDS-defining opportunistic infection. In view of the primary relationship of aspergillosis with neutropenia rather than with lymphocyte depletion, as well as the lack of aspergillar infections among reported AIDS cases, aspergillosis was later deleted from the CDC case definition of AIDS. We describe a case of disseminated aspergillosis in a patient with AIDS, with an extensive literature review of the subject.
Int J STD AIDS
PMID:Disseminated aspergillosis in the acquired immunodeficiency syndrome. 814 33

X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency disease in man, reflecting an arrest in differentiation of pre-B cells to mature B cell stages. The gene defective in XLA has been identified as a cytoplasmic protein tyrosine kinase, named btk (Bruton's tyrosine kinase). Here we report the characterization of mutations in the btk gene of five unrelated XLA families. Amplified products were generated from cDNA, cloned and sequenced. Three single point mutations and two small insertions were identified. One of the point mutations and the two insertions created stop codons that would lead to truncated btk proteins. In one XLA patient we found a single basepair substitution that altered the highly conserved Arg288 within the SH2 domain and would therefore abrogate interactions with substrate phosphotyrosines. In another XLA patient a single basepair substitution was observed that altered the conserved Arg28 residue in the N-terminal unique region of unknown function. This residue is also mutated in the xid mouse, which has a different, less severe, B cell deficiency. We conclude that a similar mutation in the btk gene leads in man to an almost complete arrest at an early stage of B cell differentiation, but in the mouse to only limited B cell abnormalities.
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PMID:Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice. 816 18

Since January 1985 James Pringle House, the genitourinary medicine (GUM) clinic at London's Middlesex Hospital, has built up an extensive computerized patient database. Yearly statistics relating to 1) individual patients, 2) diagnoses, 3) attendances, and 4) an activity estimator (combining features of attendances and their corresponding diagnoses) are extracted. Each is assessed as a potential tool for quantifying the rising workload associated with the clinic's increased staffing levels and expanded services. Only the activity estimator identifies an upward trend, rising 26.3% from 1985-86 to 1991-92, caused largely by human immunodeficiency virus (HIV) and hepatitis B related attendances. This activity estimator could provide the basis for a workload reporting facility on all GUM computer systems. The 4 statistics exhibit other useful information, including a 21.0% rate of non-attendance (a substantial hidden addition to workload) and a strong allegiance to the clinic from patients residing outside of the local Health Authority region.
Int J STD AIDS
PMID:Assessing statistics for the measurement of workload at a genitourinary medicine clinic. 821 13

X-linked agammaglobulinemia (XLA) is an immunodeficiency disease in man, resulting from an arrest in early B cell differentiation. The gene defective in XLA has recently been identified and encodes a cytoplasmic protein tyrosine kinase, named Bruton's tyrosine kinase (btk), essential for cell differentiation and proliferation at the transition from pre-B to later B cell stages. In this study we investigated btk expression by Northern blotting experiments in a series of human (precursor-) B cell lines, acute lymphoblastic leukemias and plasmacytomas. btk was found to be already expressed in very early stages of B cell differentiation, even prior to immunoglobulin (Ig) heavy (H) or light (L) chain gene rearrangements. Transcripts were also detected at the pre-B cell stage and in mature B cells, irrespective of the Ig H chain class expressed. Approximately at the transition from mature B cells to plasma cells, expression of the btk gene is down-regulated. In addition, the btk gene was found to be expressed in myeloid cell lines and acute myeloid leukemias. btk expression in myeloid cells is probably not a prerequisite for myeloid differentiation, since myeloid cells in XLA patients seem not to be affected. No btk expression was found in T-lineage cells. The btk expression profile, i.e. from early precursor-B cell stages preceding Ig rearrangement up to mature B cells, supports the hypothesis that the XLA defect resides in a critical step of B cell development which is independent of the Ig gene recombination machinery.
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PMID:The Bruton's tyrosine kinase gene is expressed throughout B cell differentiation, from early precursor B cell stages preceding immunoglobulin gene rearrangement up to mature B cell stages. 825 24

Twenty-one human immunodeficiency virus (HIV) seropositive patients were studied to determine the prevalence of cervical dysplasia, the distribution of human papilloma virus (HPV) subtypes, and the utility of cytologic diagnosis in this population. The patients ranged in age from 18 to 41 years. HIV infection was diagnosed in all patients by ELISA method and confirmed by Western blot. Patients were interviewed to document risk factors for HIV infection and cervical dysplasia. All were examined colposcopically and identifiable lesions were biopsied. In patients with normal colposcopic findings four quadrant biopsies were performed. Cervical and endocervical smears were obtained on all patients at the time of colposcopy and blood was collected for T-cell studies. Eighteen patients (86%) had abnormal cytologic findings. The Pap smear was able to identify 10 of 13 biopsy-proven epithelial abnormalities. In 14 patients there was sufficient tissue for HPV typing by in situ hybridization; the HPV subtypes identified were 6/11 (10 patients), 16/18 (9 patients), and 31/33/35 (9 patients). Dysplasia was present in 11/14 (79%) of the specimens submitted for subtyping. The absolute CD4 cell counts were 342 per mm3 for the dysplasia group and 281 per mm3 for the patients without dysplasia. Patients with dysplasia did not differ significantly from patients without dysplasia in regard to risk factors for cervical dysplasia, including history of STD, tobacco use, multiple sexual partners, age at first coitus, and parity. In addition, history of medication use and risk factors associated with HIV infection were similar in both groups.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The correlation between HIV seropositivity, cervical dysplasia, and HPV subtypes 6/11, 16/18, 31/33/35. 831 33

The cytoplasmic tyrosine kinase, Bruton's tyrosine kinase (Btk, formerly bpk or atk), is crucial for B cell development. Loss of kinase activity results in the human immunodeficiency, X-linked agammaglobulinemia, characterized by a failure to produce B cells. In the murine X-linked immunodeficiency (XID), B cells are present but respond abnormally to activating signals. The Btk gene, btk, was mapped to the xid region of the mouse X chromosome by interspecific backcross analysis. A single conserved residue within the amino terminal unique region of Btk was mutated in XID mice. This change in xid probably interferes with normal B cell signaling mediated by Btk protein interactions.
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PMID:Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice. 833 1

During the period January 1990 to January 1992 260 patients known to be infected with human immunodeficiency virus type 1 (HIV-1) attended the Accident & Emergency (A & E) Department of St James's Hospital, Dublin. There was a total of 709 visits with a mean annual attendance rate of 2.7, twice that for the general A & E population. Eighty-nine per cent of patients were intravenous drug users (IVDUs), 9% homosexual/bisexual and 2% heterosexual. Known HIV-1 seropositive patients accounted for 0.7% and 0.8% of the total number of patients who attended A & E in 1990 and 1991 respectively. The majority of patients disclosed their HIV status. Bacterial respiratory tract infection was the single most common reason for attending A & E and for admission to hospital. Seventy-two per cent of IVDUs fulfilled Centers of Disease Control (CDC) criteria for stage II and III disease; the majority of these used A & E for primary medical care, although listed with a general practitioner (GP) and attending during the daytime. Sixty-eight per cent of homosexuals/bisexuals were CDC stage IV with AIDS defining illnesses accounting for 52.6% of clinical presentations. Of this risk category, 79% required medical admission. Homosexuals/bisexuals represent more advanced disease, thus the full impact of HIV-1 infection in IVDUs in this A & E setting has yet to be realized.
Int J STD AIDS
PMID:Use of a Dublin inner city A & E department by patients with known HIV-1 infection. 839 3

A total of 6600 pregnant urban women attending an antenatal clinic of a major hospital in Malawi were evaluated for risk factors for human immunodeficiency virus type 1 (HIV-1) infection. HIV-1 seroprevalence was 23% and significantly (P < .001) associated with markers of heterosexual activity (history of sexually transmitted diseases [STDs], more than one sexual partner, reports of husbands with other partners, and all prevalent STDs except chlamydial infection) and higher socioeconomic status (as measured by husband's education). History of injections, scarification, and transfusions were not associated with HIV-1 infection. In two logistic regression models, higher socioeconomic status was a risk factor for HIV-1 infection (odds ratio [OR] = 2.69, P < .001) but not for STDs (OR = 0.94, P = .30). The opposite associations between HIV-1 and socioeconomic status and STDs and socioeconomic status suggest that HIV prevention strategies, in addition to STD diagnosis and treatment, should include interventions to reduce high-risk sexual activity and promote condom use.
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PMID:High socioeconomic status is a risk factor for human immunodeficiency virus type 1 (HIV-1) infection but not for sexually transmitted diseases in women in Malawi: implications for HIV-1 control. 841 81

To evaluate human immunodeficiency virus (HIV) partner notification and referral across index case groups, we analysed results of services provided by the Colorado Department of Health during 1988. Services were offered to 231 index cases; 226 (98%) accepted; 124 (65%) with unsafe behaviours identified 239 partners; 79% of partners were notified; 68% accepted counselling. Seropositivity was 21% in newly tested partners. Index cases chose patient referral for 25% of partners and referred 20% of eligible partners; the provider referred 71%. Index case acceptance of service, proportion of index cases with newly identified HIV positive partners, and choice of partner referral method were similar across groups. Gay men identified fewer partners, had a lower proportion of partners accepting new counselling and testing and referred a lower proportion of partners than heterosexual men. The total costs of the service were $19,496. Twelve new cases of HIV were identified through patient and provider referral and cost per case identified was $1625. Partner notification and provider referral should be offered to all HIV infected individuals in Colorado, as few differences across groups emerged and only 20% of located and eligible partners received counselling through patient referral.
Int J STD AIDS
PMID:Partner notification for human immunodeficiency virus infection in Colorado: results across index case groups and costs. 842 99

Rapid, on-site human immunodeficiency virus (HIV) testing has the potential to improve the delivery of prevention services in publicly funded counseling and testing sites. The Single Use Diagnostic System (SUDS) HIV-1 is the only rapid enzyme immunoassay (EIA) approved for diagnostic use in the United States. To evaluate the feasibility of using SUDS in public clinics and to validate the test's performance in a public health laboratory, we conducted blinded SUDS testing on plasma sent for HIV testing. From 19 March through 30 June 1993, 1,923 consecutive samples from a sexually transmitted diseases clinic and an HIV counseling and testing clinic were tested on site with SUDS. Tests done in the first two weeks with a malfunctioning centrifuge n = 402) and those done when there were excessively high temperatures in the laboratory (n = 53) were analyzed separately. Of 1,466 tests, 39 were positive by both SUDS and EIA (with Western blot [immunoblot] confirmation) and 7 were SUDS positive and EIA negative. Western blotting was used as the "gold standard" to adjudicate these discrepancies. There were no SUDS-negative and EIA-positive tests. Compared with that of EIA (with Western blot confirmation), the sensitivity of SUDS was 100% (95% confidence interval, 88.8 to 100%) and the specificity was 99.5% (95% confidence interval, 98.9 to 99.8%). The positive predictive value of SUDS was 88% in the STD clinic and 81% in the HIV counseling and testing clinic. There was a 7.7-fold increase in false positives, from 0.48 to 3.7%, when there was inadequate centrifugation and when the temperature exceeded the manufacturer's recommendations. Rapid, on-site HIV testing by the SUDS assay is feasible and practical in public health settings. The test can be performed accurately, at reasonable cost, and within the time frame of a typical clinic visit. Caution should be used, however, as two conditions adversely affected the accuracy of this test: inadequate specimen preparation and elevated temperature.
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PMID:Performance of a rapid, on-site human immunodeficiency virus antibody assay in a public health setting. 873 33


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