Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036690 (sepsis)
 59,461 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The X-linked hyper-IgM (XHIGM) syndrome is an uncommon primary immunodeficiency disease caused by mutations in the gene for CD40 ligand and characterized by normal or elevated serum IgM, reduced levels of IgG and IgA, and defective T-cell function. Because of its rarity, it has been difficult for any single investigator or institution to develop a comprehensive clinical picture of this disorder. Accordingly, a national registry was developed in the United States to provide demographic, genetic, immunologic, and clinical information on a relatively large number of patients with the XHIGM syndrome.A total of 79 patients from 60 unrelated families were registered between January 1997 and July 2002. The estimated minimal incidence was approximately 1/1,030,000 live births. All of the patients had significant IgG deficiency and most had IgA deficiency, but only one-half had elevated IgM levels. Most patients presented initially with a history of an increased susceptibility to infection including Pneumocystis carinii pneumonia. The average age of diagnosis was significantly earlier in patients born into a family with a previously affected individual. However, only one-third of the patients born into a family with a previously affected individual were diagnosed exclusively because of the presence of the positive family history before any clinical symptoms developed. Over half the patients developed symptoms of immunodeficiency and were diagnosed by 1 year of age, and over 90% by 4 years of age. The most prominent clinical infections were pneumonia (81% of patients), upper respiratory infections (49%) including sinusitis (43%) and recurrent otitis (43%), recurrent/protracted diarrhea (34%), central nervous system infections (14%), sepsis (13%), cellulitis (13%), hepatitis (9%), and osteomyelitis (1%). In addition to infections caused by encapsulated bacteria, opportunistic infections were relatively common and were caused by P. carinii, members of the herpes virus family (including cytomegalovirus), Cryptosporidium, Cryptococcus, Candida, Histoplasma, and Bartonella. Sclerosing cholangitis occurred in 5 patients and in 4 of these was associated with Cryptosporidium infection. Eight patients had died at the time of their entry into the Registry; 2 of pneumonia (1 P. carinii and 1 cytomegalovirus), 2 of encephalitis (1 ECHO virus and 1 cytomegalovirus), 2 of malignancy (both hepatocellular carcinoma), 1 of sclerosing cholangitis caused by Cryptosporidium, and 1 of hemolytic uremic syndrome.
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PMID:The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. 1466 87

An 11-year-old boy with consecutive development of systemic lupus erythematosus (SLE) and Wegener granulomatosis (WG) is presented. He was first admitted to the hospital with the findings of SLE, including crescentic glomerulonephritis, Coombs' test-positive hemolytic anemia, hypocomplementemia, antinuclear antibody (ANA) positivity, and elevated levels of anti-double-stranded (ds) DNA antibodies. He was treated successfully with steroids, cyclophosphamide, and peritoneal dialysis. One month after his discharge he developed an apparent viral infection. Three weeks afterwards he was readmitted with the findings of lower respiratory tract involvement, maxillary sinusitis, nasal septum perforation, p- and c-antineutrophil cytoplasmic antibody (ANCA) positivity, but normal complement, ANA, and anti-ds DNA levels, suggesting the diagnosis of WG. He did not respond to anti-infectious and immunosuppressive treatment, and he died of Pseudomonas sepsis.
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PMID:A boy with consecutive development of SLE and Wegener granulomatosis. 1474 Feb 84

Orbital cellulitis and abscess formation are rare complications of sinusitis, however acute orbital inflammation is secondary to sinusitis in about 70% of cases. Delay in diagnosis must not occur to avoid serious complications such as blindness and life threatening intracranial sepsis. A case is reported in which despite late referral, emergency surgical intervention was sight saving.
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PMID:Periorbital swelling: the important distinction between allergy and infection. 1498 62

Garcin syndrome is characterized by an unilateral cranial nerves involvement without sensory or motor long-tract disturbances. It is usually caused by tumor infiltrating in the skull base with osteolytic changes on radiological study. We report a case of 64-year-old man with history of alcohol overintake, who admitted local hospital, because of right periorbital edema and facial swelling. He noted right ptosis 2 weeks prior to admission. Neurological examination revealed right multiple cranial nerves involvement including II, III, IV, V, and VI cranial nerves. MR imaging of the brain showed marked paranasal sinusitis and abnormal infiltration of right orbital fat. Orbital apex syndrome related to paranasal sinusitis was diagnosed, and antibiotics was administered. But a few days after admission, he developed a right VII, IX, X cranial nerve palsy. He was transferred to our hospital because of acute development of left hemiparesis and deteriorated consciousness. MR imaging of the brain showed right internal carotid artery (ICA) occlusion, and infarction in right middle cerebral artery (MCA)'s territory. The diagnostic biopsy of the paranasal sinus showed mucorales hyphae, indicating that the pathological diagnosis was mucormycosis. Despite of antibiotic therapy included of amphotericin-B administration and strict control of diabetic mellitus, his sinusitis was gradually spread. His condition progressively deteriorated, and finally died of sepsis. Post-mortem examination revealed a widespread mucor infiltration in the dura mater without skull bone invasion. This case presented with unilateral multiple cranial nerve involvements (Garcin syndrome) followed by left hemiparesis associated with rhinocerebral mucormycosis. It is suggested that mucormycosis should be considered in case of Garcin syndrome without osteolysis in the skull base.
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PMID:[Garcin syndrome in a patient with rhinocerebral mucormycosis]. 1511 47

We report here a case of Pasteurella multocida infection caused by cat exposure presenting with septic shock, sinusitis, and pneumonia. The patient was a febrile 20-year-old woman who had been experiencing disturbed consciousness progressively. She had close contact with a domestic cat and had received some scratches on both arms. A magnetic resonance imaging (MRI) scan of the head showed a high intensity in the paranasal cavity, and a computed tomographic (CT) scan of the chest showed bilateral lung consolidations. The pathogen was identified as P. multocida by the cultures from blood and nasal discharge. She was given intensive antibiotic therapy with ceftriaxone and piperacillin, continuous hemodiafiltration (CHDF) therapy, and anticoagulation therapy. Owing to these therapeutic regimens, the septic shock was successfully treated without complications. We also review the literature on P. multocida septicemia.
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PMID:Pasteurella multocida septicemia caused by close contact with a domestic cat: case report and literature review. 1536 69

Streptococcus pneumoniae causes various human infections such as meningitis, septicemia, otitis media, sinusitis, and pneumonia. Antibiotic resistance has already been reported with increasing frequency worldwide and is spreading. The earliest studies on pneumococcal antibiotic resistance go back to the late 1980s in Turkey. The resistance patterns have elevated with stepwise increments since then. By the beginning of 2005, approximately 40% of pneumococci were resistant to penicillin and nearly one-fifth of resistant isolates present high-level penicillin resistance. This proves that penicillin is still a good alternative for nonmeningeal infections. In addition, no ceftriaxone resistance have been reported in local Turkish studies, but cefuroxime, a second-generation cephalosporin, was recorded to have (10.8-20%) resistance rates. The most frequently assessed antibiotics other than penicillin in Turkish studies include erythromycin (4-19.4%), chloramphenicol (2-10%), clindamycin (2.5-13%) and tetracycline (13-28.6%) and all have various resistance profiles. On the other hand, nearly all or almost all of the isolates evaluated in Turkish studies are susceptible to rifampicin, quinolones, linezolid, quinupristin-dalfopristin and telithromycin. All these non-beta-lactam antibiotics except the tetracyclines are within acceptable limits of empirical approaches. Tetracycline must be used cautiously. In addition, trimethoprim sulfamethoxazole cannot be prescribed in probable pneumococcal infections since more than half of the isolates are nonsusceptible.
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PMID:Antibiotic resistance in pathogenic Streptococcus pneumoniae isolates in Turkey. 1582 40

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the gene for Bruton tyrosine kinase (BTK) that result in the deficient development of B lymphocytes and hypogammaglobulinemia. Because the disorder is uncommon, no single institution has had sufficient numbers of patients to develop a comprehensive clinical picture of the disorder. Accordingly, a national registry of United States residents with XLA was established in 1999 to provide an updated clinical view of the disorder in a large cohort of patients. A total of 201 patients were registered by 66 physicians. The estimated birth rate for the 10-year period of 1988-1997 was 1/379,000. Infection was the most common initial clinical presentation (85%), followed by a positive family history (41%) and neutropenia (11%). Although the average age of diagnosis was younger in patients with a positive family history (mean, 2.59 yr) than in patients with a negative family history (mean, 5.37 yr) (p < 0.001), only 34.5% of patients with a positive family history at the time of their birth were diagnosed before clinical symptoms developed-that is, based on family history alone. Seventy percent of patients had at least 1 episode of otitis, 62% at least 1 episode of pneumonia, 60% at least 1 episode of sinusitis, 23% at least 1 episode of chronic/recurrent diarrhea, 21% at least 1 episode of conjunctivitis, 18% at least 1 episode of pyoderma and/or cellulitis, 11% at least 1 episode of meningitis/encephalitis, 10% at least 1 episode of sepsis, 8% at least 1 episode of septic arthritis, 6% at least 1 episode of hepatitis, and 3% at least 1 episode of osteomyelitis. Fourteen of 201 (6.9%) patients were dead at the time they were entered in the Registry. However, in a prospective 4 /4-year follow-up of living patients, only 3/80 (3.75%) patients died. Causes of death included disseminated enterovirus infection (n = 6), pulmonary insufficiency (n = 5), adenovirus infection (n = 1), sepsis (n = 1), acquired immunodeficiency disease syndrome (AIDS) (n = 1), myocarditis (n = 1), hepatitis (n = 2), and stem cell transplantation (n = 1).
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PMID:X-linked agammaglobulinemia: report on a United States registry of 201 patients. 1686 44

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

Three independent, fatal outbreaks of Streptococcus canis infection occurred in a 2-year period in shelter cats. The outbreaks occurred in Northern California (Yolo County), Southern California (Kern County), and North Carolina (Guilford County). An estimation of the affected population is >150 cats among 3 affected shelters, with a mortality rate of up to 30%. Among 20 cats submitted for necropsy there were 2 distinct pathologic presentations. The first (shelters 1 and 2) was skin ulceration and chronic respiratory infection that progressed, in some cats, to necrotizing sinusitis and meningitis. The second (shelter 3) was rapid progression from necrotizing fasciitis with skin ulceration to toxic shock-like syndrome, sepsis, and death. S canis was the sole pathogen identified in most cases. Whether hypervirulent S canis strains exist is unknown; there is little understanding of how these bacteria cause invasive disease in cats.
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PMID:Fatal Streptococcus canis infections in intensively housed shelter cats. 1731 1

A normal component of the flora of the oropharynx, Neisseria sicca was first isolated in 1906 and has since been reported as a rare cause of various human infections including endocarditis, pneumonia, sinusitis, sepsis, and urethritis. We report the case of a 44-year-old African-American female with a history of hypertension who presented with complaints of right frontal headache, nausea, photophobia, and vomiting. A computed tomography scan of the patient's brain showed a large subarachnoid hemorrhage, and an arteriogram confirmed a large posterior communicating artery aneurysm. A ventriculostomy tube was placed, and the patient subsequently developed an elevated temperature and elevated white blood cell count. Cerebrospinal fluid studies showed elevated protein and glucose levels and cultures positive for N. sicca. This is only the seventh reported case of culture-proven meningitis related to N. sicca, and the first reported case associated with intracranial hemorrhage and ventriculostomy tube placement.
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PMID:Neisseria sicca meningitis following intracranial hemorrhage and ventriculostomy tube placement. 1790 82


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