Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0243026 (sepsis)
 52,417 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In this study we aimed to investigate the findings in patients with adult-onset Still's disease (AOSD) admitted with fever of unknown origin (FUO) during the last 18 years in our unit, in order to discover the ratio of such patients to all patients with FUO during the same period, and to determine the clinical features of AOSD in FUO. The number and the aetiologies of the patients with FUO diagnosed between 1984 and 2001, and the clinical features of those with AOSD, were taken from the patient files. The diagnosis of AOSD was reanalysed according to the diagnostic criteria of Cush et al. [11]. The presumed diagnoses before a diagnosis of AOSD was established were also noted. The chi(2) and Fisher's exact tests were used for statistical analysis. We studied 130 patients with a diagnosis of FUO, 36 (28%) of whom had collagen vascular diseases. Of these 36 patients, 20 (56%, 12 female, 8 male, mean age 34 years, range 16-65) had AOSD. Clinical and laboratory findings were as follows: fever (100%), arthralgia (90%), rash (85%), sore throat (75%), arthritis (65%), myalgia (60%), splenomegaly (40%), hepatomegaly (25%), lymphadenopathy (15%), anaemia (65%), neutrophilic leukocytosis (90%), increased erythrocyte sedimentation rate (100%), elevated transaminase levels (65%), a negative RF (100%), and a negative FANA (80%). Antibiotics had been prescribed in 18 (90%) of cases. The presumed infectious diagnoses were streptococcal tonsillitis/pharyngitis (50%), infective endocarditis (four patients), sepsis (two patients) and acute bacterial meningitis (two patients). The presumed non-infectious diagnoses were acute rheumatic fever (three patients), seronegative rheumatoid arthritis (two patients) and polymyositis (two patients). Sixteen patients were followed for a mean duration of 30 months (range 2-59). A remission was obtained with indomethacin in three cases (19%), and with prednisolone in the remainder. Relapse was detected in three cases (19%). AOSD is one of the most frequent aetiologies of FUO. During the diagnostic course of a patient with FUO, a maculopapular rash and/or arthralgia and/or sore throat should raise the suspicion of AOSD. Because the disease has heterogeneous clinical findings, certain bacterial infections (e.g. streptococcal pharyngitis and sepsis) are generally considered and the prescribing of antibiotics is common.
 ...
PMID:Fever of unknown origin: a review of 20 patients with adult-onset Still's disease. 1274 Jun 70

The role of preoperative stress single-photon emission computed tomographic (SPECT) imaging in patients with end-stage liver disease who underwent liver transplantation is not well established. We reviewed medical records of patients who had liver transplantation at our institution between January 1998 and November 2001. During this time, 339 patients (213 men, aged 51 +/- 11 years) underwent liver transplantation. Of these, 87 patients had preoperative stress SPECT imaging. Diabetes mellitus (30% vs 11%), hypertension (26% vs 12%), and coronary artery disease (15% vs 7%) were more prevalent in those with than without SPECT (p <0.01 each). The stress SPECT perfusion images were normal in 78 patients (91%) and the left ventricular ejection fraction was 72 +/- 10%. SPECT images revealed ascites in 66% and splenomegaly in 83% of patients. There were 35 total deaths (10%) and 5 nonfatal myocardial infarctions over a mean follow-up of 21 +/- 13 months. Most deaths (32 of 35) were noncardiac and sepsis was the most common cause of death. A normal SPECT study had a 99% negative predictive value for perioperative cardiac events. Kaplan-Meier survival curves showed an 87% 2-year cumulative survival rate in the total group. Thus, in patients undergoing liver transplantation, 2-year survival depends on early noncardiac events. A normal stress SPECT study identified patients at a very low risk for early and late cardiac events despite a higher risk profile. SPECT images also revealed unique findings, such as ascites and splenomegaly, which could produce image artifacts and may interfere with accurate image interpretation.
 ...
PMID:Usefulness of preoperative stress perfusion imaging in predicting prognosis after liver transplantation. 1458 57

Autopsy study from 21 patients with hairy cell leukemia was performed. All patients had the expected widespread involvement of the hematopoietic system. Leukemic infiltration of lymph nodes was detected in 12 cases. Liver involvement was present in 19 patients, leukemic infiltration ranged from focal portal and sinusoidal infiltration to massive infiltration that effaced the hepatic architecture. Twelve patients showed leukemic infiltration of the spleen, remaining 9 patients underwent previous splenectomy for massive splenomegaly. We also found leukemic infiltration of kidneys in four cases, two patients showed leukemic involvement of the lungs. The cause of death was related to impaired immunity (sepsis, bronchopneumonia, etc.) in the majority (73%) of cases.
 ...
PMID:Hairy cell leukemia: an autopsy study. 1496 69

This paper presents a comparative prospective study of three modalities of surgical treatment for extrahepatic portal hypertension in children: central splenorenal shunt after splenectomy (CSS), side-to-side lienorenal shunt (SSLR) without splenectomy, and splenectomy and gastroesophageal devascularization (SGD). In an 18-month period, 27 procedures were performed: 10 CSS, 10 SSLR, and seven SGD. The outcomes were evaluated by fall in portal pressures, hematological parameters, shunt patency, splenic regression, and disappearance of esophageal varices. All three procedures were comparable in the fall of portal pressure after surgery. The average blood loss and operating time were statistically significant in favor of SSLR compared with CSS. At 3-month follow-up, shunt patency was confirmed by duplex Doppler study in all the patients in the SSLR group and in nine out of 10 patients in the CSS group. In the CSS and SGD groups, hypersplenism resolved in all the patients. In the SSLR group, blood counts improved in only five out of eight affected children. No patient re-bled during a follow-up of 3-5 years. There were no cases of hepatic encephalopathy or overwhelming postsplenectomy sepsis. In conclusion, CSS is useful when there is a large spleen, severe hypersplenism, and a shuntable splenic vein. SSLR is suitable when there is only mild splenomegaly, mild hypersplenism, and a shuntable splenic vein. Splenectomy and devascularization is the choice when there is no shuntable splenic vein.
 ...
PMID:Extrahepatic portal hypertension in children: observations on three surgical procedures. 1535 94

Recent advances in immunologic techniques have lead to increased recognition of primary immunodeficiencies. A review of patients with suspected immunodeficiencies in a Taiwan tertiary hospital from January 1985 to October 2004 and molecular/genetic analyses done on some patients were investigated. Of the 403 patients selected based on the International Classification of Disease, Ninth Revision, 37 patients with PID (8 females and 29 males) were identified: 17 (46%) with antibody production deficiencies, nine (24%) with defective phagocyte function, four (11%) with combined B and T cell immunodeficiencies, seven (19%) with T cell deficiencies, but none with primary complement deficiencies. Those with secondary immunodeficiencies were excluded from the study. Recurrent sinopulmonary infections (62%) were the most common clinical manifestation, followed by sepsis (57%), severe skin infection (40%), splenomegaly/hepatomegaly (27%), central nervous system dysfunction (22%), chronic diarrhea (22%), and failure to thrive (19%). Seven (19%) patients died, five of infections, one of disseminated intravascular coagulopathy and one of hepatocellular carcinoma. Six novel mutations were found from 11 agreed patients. This is the first report on primary immunodeficiencies in Taiwan covering a 20-year period.
 ...
PMID:Distribution and clinical aspects of primary immunodeficiencies in a Taiwan pediatric tertiary hospital during a 20-year period. 1582 93

The aim of the study was to the clinical features and long term follow up after treatment with Cladarbine in a tertiary care hospital. Seven patients with hairy cell leukemia were diagnosed between January 1990 till December 2003. Diagnosis in all the patients was established by bone marrow aspirates and trephine biopsy along with TRAP. In two patients the diagnosis was supplemented by flowcytometry and in another two patients by splenectomy. Six patients were male while one was female. Mean age was 47.7 years (range 36-64). Most common presenting features were pallor and weakness (n=5). All patients had splenomegaly. Blood count at presentation revealed that one patient had bicytopenia, two had isolated thrombocytopenia, and three had pancytopenia. Treatment responses were evaluable in seven patients. Complete response was seen in six patients (85.7%). One patient died after two months due to sepsis while 3 (50%) patients relapsed. Those who relapsed received another course of CDA and have maintained remission with a median duration of response of 48 months (20-48). From this small series we can conclude that CDA is an effective treatment for HCL and even it works very well in relapsed cases.
 ...
PMID:Hairy cell leukemia: clinical presentation and long term follow up after treatment with 2-chlorodeoxyadenosine (2-CdA). 1596 Feb 89

Classic galactosemia is an autosomal recessive disorder that is caused by activity deficiency of the UDP-galactose uridyl transferase (GALT). The clinical spectrum of classic galactosemia differs according to the type and number of mutations in the GALT gene. Short-term clinical symptoms such as jaundice, hepatomegaly, splenomegaly and E. coli sepsis are typically associated with classic galactosemia. These symptoms are often severe but quickly ameliorate with dietary restriction of galactose. However, long-term symptoms such as mental retardation and primary ovarian failure do not resolve irrespective of dietary intervention or the period of initial dietary intervention. There seem to be an association between deficient galactosylation of cerebrosides and classic galactosemia. Galactocerebrosides and glucocerebrosides are the primary products of the enzyme UDP-galactose:cerebroside galactosyl transferase (CGT). There has been an observation of deficient galactosylation coupled with over glucosylation in the brain tissue specimens sampled from deceased classic galactosemia patients. The plausible mechanism with which the association between GALT and CGT had not been explained before. Yet, UDP-galactose serves as the product of GALT as well as a substrate for CGT. In classic galactosemia, there is a consistent deficiency in cerebroside galactosylation. We postulate that the molecular link between defective GALT enzyme, which result in classic galactosemia; and the cerebroside galactosyl transferase, which is responsible for galactosylation of cerebrosides is dependent on the cellular concentrations of UDP-galactose. We further hypothesize that a threshold concentration of UDP-galactose exist below which the integrity of cerebroside galactosylation suffers.
 ...
PMID:The molecular relationship between deficient UDP-galactose uridyl transferase (GALT) and ceramide galactosyltransferase (CGT) enzyme function: a possible cause for poor long-term prognosis in classic galactosemia. 1612 33

Autoimmune lymphoproliferative syndrome (ALPS) is the first autoimmune hematological disease whose genetic basis has been defined. It is a disorder of apoptosis in which the inability of lymphocytes to die leads to lymphadenopathy, hypersplenism, and autoimmune cytopenias of childhood onset. More than 200 ALPS patients have been studied over the last 15 years and followed by our colleagues and ourselves at the Clinical Center of the National Institutes of Health. Based upon this experience we have determined that patients with germline mutations of the intracellular domain of Fas protein, the most frequent single genetic cause of ALPS, have a significantly increased risk of developing Hodgkin and non-Hodgkin lymphoma (NHL), underscoring the critical role played by cell surface receptor-mediated apoptosis in eliminating redundant proliferating lymphocytes with autoreactive and oncogenic potential. The major determinants of morbidity and mortality in ALPS are the severity of the autoimmune disease, hypersplenism, asplenia-related sepsis, and the risk of lymphoma, which in itself requires long-term surveillance. Though most episodes of cytopenias respond to courses of conventional immunomodulatory agents, some ALPS patients, especially those with massive splenomegaly and hypersplenism, may require splenectomy and/or ongoing immunosuppressive treatment. Thus, ALPS highlights the importance of cell death pathways in health and disease.
 ...
PMID:Causes and consequences of the autoimmune lymphoproliferative syndrome. 1652 44

We report on a 66-year-old patient originating from Greece and living in Germany with a prosthetic mitral valve because of a combined vitium following juvenile rheumatic fever. The patient fell ill with acute fever, splenomegaly, and pancytopenia. After unsuccessful antibiotic therapy because of presumed endocarditis or sepsis with unknown focus, visceral leishmaniasis was suspected because of recent travel to Greece. Subsequently, this diagnosis was confirmed by serology. Considering thrombocytopenia and concurrent anticoagulation after prosthetic mitral valve replacement, we avoided a bone marrow biopsy usually required for definite proof of leishmania infection. Instead, infection with Leishmania infantum was diagnosed by PCR of a peripheral blood sample. After treatment with liposomal amphotericin B the patient recovered fully.
 ...
PMID:[Acute febrile disease with splenomegaly and pancytopenia. A 66-year-old Greek patient with a prosthetic mitral valve]. 1754 31

We present a case of a 60-year-old male patient with primary bone marrow anaplastic large cell lymphoma. He was admitted to the hospital with the symptoms of anemia and fever. There was no evidence of lymphadenopathy or splenomegaly. Immunoelectrophoresis showed the presence of a triple M gradient (double IgM and an IgG), with the IgG and one of the IgM paraproteins functioning as a cryoglobulin. The patient had no hepatitis C virus infection. Bone marrow biopsy showed massive CD30-positive, ALK-negative large lymphoid cell infiltration of T-cell origin with anaplastic morphology. PCR analysis of lymphoid cells separated from the bone marrow demonstrated the presence of a B/T hybrid genotype disorder with no evidence of the t(2;5), nor t(1;2) translocations. The patient entered a period of remission following CHOP chemotherapy. The patient subsequently died of sepsis as a consequence of serious humoral immunodeficiency.
 ...
PMID:Primary bone marrow T-cell anaplastic large cell lymphoma with triple M gradient. 1792 57


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>