Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The major hepatobiliary infections (excluding the viral hepatitides) include amebic and pyogenic liver abscess and cholangitis. Little new information has been published in the area of cholangitis during the last several years. In contrast, the clinical presentation and management of liver abscess have evolved considerably, not only in the last several years but also during a more extended period spanning the last two decades. In the United States, amebic liver abscess occurs largely in individuals from endemic areas or in those traveling to endemic areas. Recent data suggest that patients with human immunodeficiency virus (HIV) infection are at an increased incidence of amebic liver abscess. New serologic tests and molecular techniques are being added to the diagnostic armamentarium for amebic liver abscess. In most cases, amebic liver abscess is associated with an excellent prognosis (up to 100% survival) if properly managed. Pyogenic liver abscess, although commonly occurring in patients with known biliary tract disease, is often cryptogenic in origin (ie, no clear causal factor can be identified) or often is caused by underlying medical disorders. An emerging population of patients with pyogenic liver abscess includes those with complications of aggressive interventions (hepatic chemoembolization, cryoablation, liver transplantation). Pyogenic liver abscess was predominantly managed by surgical methods up until the early 1980s, but almost entirely has changed to being managed by interventional techniques; in 2000, this trend has continued. In contrast to amebic liver abscess, pyogenic liver abscess is associated with greater morbidity and mortality, ostensibly caused by the severity of the underlying disease in many patients. However, it should be emphasized that the prognosis of patients with pyogenic liver abscess, who do not have underlying comorbid conditions, is excellent.
 ...
PMID:Hepatobiliary infections. 1703 Nov 66

A 59-year-old man with poor oral hygiene presented to our hospital because of fever and chills. Abdominal ultrasonography and enhanced computed tomography (CT) revealed a liver abscess. The patient had no history of immunodeficiency and we confirmed the patient had no immunologic abnormalities. Blood culture revealed Fusobacterium nucleatum, a bacterium commonly found in the oral cavity. Even if a patient is immunocompetent, poor oral hygiene might be an independent risk factor for a pyogenic liver abscess. Professional mechanical tooth cleaning (PMTC) and appropriate self-care are recommended as a prophylaxis against not only dental, but also systemic diseases.
 ...
PMID:Pyogenic liver abscess related to dental disease in an immunocompetent host. 1837 60

Chronic granulomatous disease (CGD) is an immunodeficiency caused by defects in the nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase complex and is usually diagnosed in early childhood. CGD patients suffer from severe, recurrent infections with bacteria, fungi and yeasts. We report a 25-year-old female with protracted fever because of a Staphylococcus aureus liver abscess, which did not resolve until breakthrough into the stomach. Despite her age, CGD was considered on diagnosis on the basis of the clinical symptoms. Analysis of the NADPH-oxidase activity confirmed CGD as the underlying condition. Western blotting revealed the absence of p47(phox) and subsequent sequencing of the p47(phox)-encoding gene, neutrophil cytosolic factor (NCF1), identified a deletion of 837C in the maternal NCF1 allele. The paternal allele contained a stopcodon because of a conversion between NCF1 and one of its PsiNCF1 pseudogenes. The patient had one novel mutation, c.837delC, and one conversion in NCF1, resulting in the complete absence of the p47(phox) component of the NADPH-oxidase complex. This p47(phox)-deficient CGD patient had the highest age at diagnosis reported thus far.
 ...
PMID:A novel mutation in NCF1 in an adult CGD patient with a liver abscess as first presentation. 1932 91

Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency disorder presenting with clinically recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. Here, we report two sisters with a fatal course of PNP deficiency due to delay in diagnosis. The first patient developed a liver abscess by Aspergillus fumigatus and the second patient developed Mycobacterium tuberculosis complex lymphadenitis and probable pulmonary tuberculosis due to disseminated BCG infection. The patients also suffered from sclerosing cholangitis. Mutation analysis of the PNP gene from both sisters revealed a homozygous mutation for a G>A at nucleotide 349 (349 G>A transition), which changes alanine 117 to theronine in exon 4 (A117T). An increased awareness of early signs, symptoms, and abnormal laboratory findings of PNP deficiency will establish the early prognosis and treatment.
 ...
PMID:Purine nucleoside phosphorylase deficiency with fatal course in two sisters. 1975 29

Severe congenital neutropenia is a primary immunodeficiency; the lack of maturation of neutrophil precursor in bone marrow and severe neutropenia are the subjacent characteristics which explain a marked susceptibility to severe and recurrent infections; bacteria and fungi are the most common etiologic agents. We report the case of an infant with severe congenital neutropenia that began at 4 days from birth with perianal abscess infections, sepsis, liver abscess, gingivitis and oral ulcers; she required multiple hospitalizations because of the severity of the infections. Isolated agents were Pseudomonas aeruginosa, Staphylococcus hominis and Klebsiella sp. The bone marrow examination showed maturation arrest of myeloid forms, thus confirming the diagnosis of severe congenital neutropenia. Granulocyte colony-stimulating factor was started. The severe congenital neutropenia should be considered in patients with neutropenia and infections in the first month of life. Early diagnosis and treatment improve survival and quality of life of these patients.
 ...
PMID:[Severe congenital neutropenia]. 2185 29

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disease, affecting phagocytic blood cells, which predispose patients to recurrent infectious complications. Herein, an 11-year-old girl is described who presented with liver abscess at the age of 9 years. Positive dihydrorhodamine (DHR) and nitrobluetetrazolium (NBT) tests confirmed the diagnosis of CGD for the patient. Anti-tuberculosis drugs and parenteral antibiotic therapy were started. Unusual visceral abscess and recurrent infections should be considered as an alarm for primary immunodeficiency diseases, while early diagnosis and appropriate treatment could prevent severe complications and even death in this group of patients.
 ...
PMID:Liver abscess as the presenting manifestation of chronic granulomatous disease. 2220 88

The clinical management of amebiasis is a growing concern, particularly among human immunodeficiency virus (HIV)-infected individuals who are predisposed to severe illness. Treatment with a luminal amebicide is strongly recommended following acute-stage treatment with a nitroimidazole. In 2004, the Japanese Research Group on Chemotherapy of Tropical Diseases introduced paromomycin, which was not nationally licensed, and offered it to a number of patients. From 2004 to 2011, 143 case records of amebiasis (123 with amebic colitis, 16 with amebic liver abscess, and 4 with both) in which patients were treated with paromomycin, mainly 1,500 mg/day for 9 or 10 days following metronidazole treatment, were submitted. Among 123 evaluable cases, 23 (18.7%) experienced possible adverse effects, the most common being diarrhea (17/123, 13.8%) and other gastrointestinal problems that were resolved after the completion or discontinuation of treatment. In addition, single cases of bloody stools associated with Clostridium difficile colitis, skin rash, and the elevation of liver enzymes were also reported, although the causal relationship was not clear. HIV infection did not appear to increase the incidence of adverse drug effects. Each of the 11 asymptomatic or mildly symptomatic amebic colitis cases became negative for stool cysts after paromomycin treatment. Paromomycin was shown to be safe and well tolerated, as well as effective in a special subset of amebic colitis cases.
 ...
PMID:Efficacy and safety of paromomycin for treating amebiasis in Japan. 2385 Aug 36

Amebic liver abscess (ALA) had previously been endemic in Taiwan, particularly in the southern region, although its occurrence in the southeastern area was unknown. Thus, we conducted a retrospective study for southeastern Taiwan. We identified 14 patients who were diagnosed with ALA between July of 1995 and July of 2008. These patients were predominantly male and older in age. Most patients lived in rural areas (85.7%). Alcoholism (78.6%) and diabetes (35.7%) were risk factors for ALA. No human immunodeficiency virus (HIV) infections were detected. The most common clinical symptoms were fever (100%) and abdominal pain (100%). Short mean durations of symptoms, high bilirubin levels, and low albumin levels were also noted. Most patients (92.86%) had a single lesion, particularly in the right liver lobe (71.4%). Six patients also had secondary Klebsiella pneumoniae bacterial infections. Clinicians should be aware of the different risk factors in different regions when diagnosing amebic liver abscess in Taiwan.
 ...
PMID:Clinical manifestations and risk factors of amebic liver abscess in Southeast Taiwan compared with other regions of Taiwan. 2416 42

Hyper IgM (HIGM) syndrome is an immunodeficiency that can lead to liver disease in more than 80% of affected males by an age of 20 years. Hepatitis, sclerosing cholangitis, and hepatocellular malignancies are common among them. We encountered two cases in children of less than 12 years who presented with typical manifestations of liver abscess and were later detected to have a concomitant underlying HIGM syndrome.
...
PMID:Liver Abscesses and Hyper IgM Syndrome. 2447 81

A 21-year-old male with no significant past medical history, presented with right upper quadrant (RUQ) abdominal pain along with fevers and chills. Lab work revealed leukocytosis, anemia, and slightly elevated alkaline phosphatase. Viral serology for hepatitis B virus, hepatitis C virus, and human immunodeficiency virus were negative and he was immunocompetent. Computed tomography imaging revealed hepatic abscesses, the largest measuring 9.5 cm. Empiric antibiotics were started and percutaneous drains were placed in the abscesses. Anaerobic cultures from the abscesses grew Fusobacterium nucleatum. This is a gram negative anaerobic bacteria; a normal flora of the oral cavity. Fusobacterium is most commonly seen in Lemiere's disease, which is translocation of oral bacteria to the internal jugular vein causing a thrombophlebitis and subsequent spread of abscesses. Our patient did not have Lemiere's, and is the first case described of fusobacterium pyogenic liver abscess in a young immunocompetent male with good oral hygiene. This case was complicated by sepsis, empyema, and subsequent abscesses located outside the liver. These abscesses' have the propensity to flare abruptly and can be fatal. This case not only illustrates fusobacterium as a rare entity for pyogenic liver abscess, but also the need for urgent diagnosis and treatment. It is incumbent on physicians to diagnose and drain any suspicious hepatic lesions. While uncommon, such infections may develop without any overt source and can progress rapidly. Prompt drainage with antibiotic therapy remains the cornerstone of therapy.
 ...
PMID:Pyogenic liver abscess caused by Fusobacterium in a 21-year-old immunocompetent male. 2583 42


<< Previous 1 2 3 4 Next >>