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)

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by a failure to generate immunoglobulins of all isotypes due to the absence of mature B cells and plasma cells, secondary to mutations in the Bruton's tyrosine kinase (Btk) gene. We report six patients with XLA, confirmed by mutation analysis, from northern Thailand. The mean age of onset was 2.5 years and the mean age at diagnosis was 7.3 years. All patients had a history of otitis media, pneumonia and arthritis at the time of diagnosis, five patients had developed bronchiectasis and 3 patients septicemia. Other infections reported included sinusitis (5/6), pericarditis (1/6), meningitis (1/6) and pyoderma (1/6). Haemophilus influenzae, Streptococcus pneumoniae, Pseudomonas aeruginosa and Staphylococcus aureus were isolated on multiple occasions. One patient died of sepsis at the age of 16 years. These observations demonstrate that early diagnosis and treatment can improve prognosis and quality of life.
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PMID:X-linked agammaglobulinemia in northern Thailand. 1691 89

Significantly lower frequency of relapse, incidence of pulmonitis and pericarditis, leukopenia and thrombocytopenia stage IV and longer recurrence-free survival were reported after acceleration of multifractionation of STD of 1.35Gy was used for treatment of patients with primary Hodgkin's disease, as compared with standard fractionation. When STD was reduced to 1.2Gy (modified multifractionation), subtotal exposure of lymph nodes was followed by a significant drop in frequency and severity of leukopenia and thrombocytopenia stage III-IV. The latter complications, rates decreased further, with perspective response to therapy, as irradiation was limited to that of areas exposed during modified multifractionation.
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PMID:[20-year experience with modified dose fractionation of radiotherapy in primary Hodgkin's disease]. 1894 16

Immune reconstitution inflammatory syndrome is a clinical entity with a broad presentation, described in both HIV and non-HIV-infected patients. We report a case of Mycobacterium avium-complex pericarditis as a rare but life-threatening manifestation of this syndrome in a patient with AIDS.
Int J STD AIDS 2014 Feb
PMID:Mycobacterium avium-complex pericarditis: a case of unmasking immune reconstitution inflammatory syndrome. 2397 Jun 40

We report the first case of Nocardia beijingensis pericarditis in a 32-year-old HIV-infected patient. He presented with cardiac tamponade after failing to respond to treatment for smear-negative pulmonary and pericardial tuberculosis (TB). The pericardial fluid was examined several times before it eventually revealed filamentous branching organisms in Gram and modified acid-fast bacilli stain. The culture grew Nocardia spp. and was identified by 16s rRNA sequencing as N. beijingensis. Eight previously reported cases of Nocardia pericarditis in HIV-infected patients were caused by Nocardia asteroides. All patients had low CD4 cell count (range: 17-239 cells/mm3) and 50% of patients were treated for tuberculous pericarditis prior to making the correct diagnosis of Nocardia pericarditis. This report revisits the issue of nocardiosis as a great TB mimicker. It should always be considered in the differential diagnosis among HIV-infected patients suspected of having pericardial TB that is failing treatment.
Int J STD AIDS 2018 04
PMID:Nocardia beijingensis pericarditis presenting with cardiac tamponade: A case report. 2905 35

Stent infection after drug-eluting stent implantation is uncommon but is a critical event. In this study, we describe two such cases of coronary stent infection but with varied presentation. The first patient presented with recurrent stent thrombosis and acute coronary syndrome while the second patient was erroneously diagnosed as having tubercular pericarditis and was started on anti-tubercular therapy. Due to their possible fatal outcome, we herein report our experience with this uncommon clinical entity to help in rapid diagnosis and treatment. <Learning objective: Infection involving implanted stents is rare, it can, however, occur with high morbidity and mortality. In absence of diagnostic criteria or classic signs and symptoms, one should be aware of its presence and risk factors associated with it. Certain rare conditions such as JAK2 V617F mutation significantly alter hemogram leading to changes in red blood cell, white blood cell, and platelet counts facilitating coronary thrombosis should also be kept in mind.>.
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PMID:Coronary stent infection: Interesting cases with varied presentation. 3069 49