Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020505 (hyperphagia)
 6,116 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Common variable hypogammaglobulinemia (immunodeficiency), a disorder characterized by late-onset immunoglobulin deficiency and lack of humoral immunity, has a variable association with bronchiectasis, cholelithiasis, nodular lymphoid hyperplasia, gastrointestinal neoplasia, megaloblastic anemia, and malabsorption. The patient described in this report had all of the above except neoplasia. In addition, he had calcium oxalate renal stones probably secondary to his malabsorption. The first case demonstrating the beneficial effect of home hyperalimentation in patients with severe malabsorption refractory to other treatments is described. Home hyperalimentation overnight allows the patient freedom for daily activities while also being more cost-effective than in-hospital parenteral nutrition.
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PMID:Home hyperalimentation for common variable hypogammaglobulinemia with malabsorption secondary to intestinal nodular lymphoid hyperplasia. 311 40

The effect on cellular immunity of the administration of the non-specific immunopotentiator BCG and/or a streptococcal agent was studied in 90 non-cancer bearing Wistar rats under different nutritional support. The number of immunocompetent cells and the non-specific function of the immunocompetent cells significantly decreased in acute malnutrition. The non-specific immunopotentiator BCG and streptococcal agent activated the peritoneal macrophages, to a remarkable extent, but depressed spleen cell blastoid transformation, thymus index and peripheral lymphocyte count in the starved rat group. In rats who received BCG under intravenous hyperalimentation (IVH), the absolute macrophage counts went down as the quantity of amino-acid administered decreased. The acquired immunodeficiency due to acute malnutrition is evident and the effect obtained with an immunopotentiator is considered to be related to the nutritional status of the host. The adequate administration of protein-calorie is required for the effective use of the immunopotentiator.
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PMID:An experimental study on cellular immunity and protein-calorie malnutrition. 642 80

We report a case of a 31-year-old woman with common variable immunodeficiency (CVID) complicated with intractable diarrhea and the functional disorder of renal tubules. The patient became hypogammaglobulinemic after she suffered from measles at 6 years of age. She also suffered from lupus-like syndrome at 7 years of age. The complete remission was obtained by glucocorticosteroid treatment. An intravenous immunoglobulin replacement therapy was introduced at 11 years of age, since then her general condition was stable for more than 20 years. When she was 29 years old, she suffered from generalized malaise, anorexia with body weight loss, and numbness of face. The intractable diarrhea as protein loosing syndrome, and the severe abnormality of electrolyte balance with metabolic acidosis as the functional disorder of renal tubules were found. Her condition was not improved by the electrolytes or alkali replacement therapy. She was admitted for further evaluation and treatment. The intractable diarrhea and the functional disorder of renal tubules were dramatically improved after absolute restriction of food intake under hyperalimentation. When she began to take food, the symptom and sign became worse again. The interstitial nephritis and nonspecific inflammation of intestine were found by the tissue biopsy. The most characteristic finding was the infiltration of lymphocytes (predominantly CD 8 + T lymphocytes) in both intestinal mucosa and renal interstitium. The introduction of glucocorticosteroids improved her general condition and biochemical findings. This CVID case is complicated with intractable diarrhea and the functional disorder of renal tubules which is associated with the infiltration of CD 8 + lymphocytes in intestine and kidney. We consider that such case is very rare and valuable to report.
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PMID:[A case of common variable immunodeficiency with intractable diarrhea and the functional disorder of renal tubules]. 1086 33

Disseminated Mycobacterium avium-intracellulare complex (MAC) infection was diagnosed in 10 young cats (1-5 years of age) from Australia or North America between 1995 and 2004. A further two cats with disseminated mycobacteriosis (precise agent not identified) were recognised during this period. Of the 12, 10 were Abyssinian cats, one was a Somali cat and one was a domestic shorthair cat. None of the cats tested positive for either FeLV antigen or FIV antibody. The clinical course of these infections was indolent, with cats typically presenting for weight loss, initially in the face of polyphagia, with a chronicity of up to several months. Additional clinical features included lower respiratory tract signs and peripheral lymphadenomegaly. A marked diffuse interstitial pattern was evident in thoracic radiographs, even in cats without overt respiratory involvement. Hair clipped to perform diagnostic procedures tended to regrow slowly, if at all. Diagnosis was generally made by obtaining representative tissue specimens from mesenteric lymph nodes, liver or kidney at laparotomy, or from a popliteal lymph node. The primary antecedent event was most likely colonisation of either the alimentary or respiratory tract, followed by local invasion and eventual lymphatic and haematogenous dissemination. Nine cases were treated using combination therapy with agents effective for MAC infection in human patients. Two cats are still undergoing initial therapy and have responded. Of the remaining seven, all responded during long courses (5-14 months) of clarithromycin combined with either clofazimine or rifampicin, and a fluoroquinolone or doxycycline. Of these, three cats remain well (with durations between 2 months and 2 years following therapy); two developed recurrent disease (at 3 months and 2 years, respectively, following therapy) and have restarted therapy. The remaining two cats improved 1 year and 5 months, respectively, after diagnosis but ultimately succumbed. The two cats in which therapy was restarted have improved dramatically. Certain lines of Abyssinian and Somali cats likely suffer from a familial immunodeficiency that predisposes them to infection with slow-growing mycobacteria such as MAC.
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PMID:Disseminated Mycobacterium avium infection in young cats: overrepresentation of Abyssinian cats. 1622 69

In non-addicted patients, several states such as alcoholism, previous valvular heart disease or prosthetic valve replacement, immunodeficiency states, prolonged intravenous hyperalimentation, permanent pacemakers, and some congenital heart diseases can provide the predisposing factors for tricuspid valve endocarditis. It is an extremely rare occurrence in patients with normal native cardiac valves. In this report, we present a case of a 67-year-old woman with tricuspid native valve endocarditis related to Candida parapsilosis which is a very rare cause of infective endocarditis and carries a high mortality risk. An operation was indicated for the patient due to persistent enlarging vegetation on tricuspid valve, severe tricuspid regurgitation, septic pulmonary emboli and finally uncompensated respiratory and heart failure. She underwent tricuspid valve replacement with bioprothesis three years ago and now she is in a satisfactory condition without any medical treatment.
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PMID:Candida parapsilosis tricuspid native valve endocarditis: 3-year follow-up after surgical treatment. 1829 75

Although Acremonium strictum is environmentally widespread as opportunistic fungus, it may cause infection in patients who have immunodeficiency. In this study, A. strictum were isolated from the pleural fluid of a patient with colon adenocarcinoma. The patient did not receive antifungal therapy because the patient died on the same day after the isolation of the mould from the pleural fluid. Major risk factors for the fungal infection are surgery because of cancer, administration of parenteral hyperalimentation and broad-spectrum antibiotics, attaching chest tube and ventilation tube and hospitalization in intensive care unit. The minimal inhibitory concentrations (MICs) of amphotericin B, fluconazole, ketoconazole, itraconazole, voriconazole for the A. strictum strain isolated from pleural fluid were 0.125, 256, 2, 1.5 and 0.25 microg ml(-1), respectively. In conclusion, bacteria and fungi, especially opportunistic fungi should be taken into consideration in the developing pleuritis in the patients with predisposing risks for the fungal infection.
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PMID:Isolation of Acremonium strictum from pleural fluid of a patient with colon adenocarcinoma. 1862 74

Iatrogenic Cushing syndrome with secondary adrenal insufficiency is a rare but recognized complication of intra-articular corticosteroid injection. Recent reports suggest that the risk of this serious complication is significantly higher in human immunodeficiency virus (HIV)-infected patients receiving ritonavir-based antiretroviral regimens. This article describes a case of a 44-year-old HIV-infected man taking ritonavir who required admission to the intensive care unit (ICU) for hyperosmolar hyperglycemic state following injection of triamcinolone acetonide 80 mg into his right hip for osteoarthritis. Within 3 days of the injection, he developed polydipsia, polyphagia, polyuria, fatigue, and malaise and lost 10 lbs. Laboratory evaluation revealed a blood glucose of 766 mg/dL, and serum pH was 7.36 (normal, 7.31-7.41). After 3 days in the ICU, he was discharged on detemir insulin 15 units subcutaneously daily and sliding scale insulin aspart. Seven weeks after the injection, his detemir insulin had been titrated to 41 units daily, and his serum triamcinolone acetonide concentration was 0.39 mcg/dL (normal, <0.03 mcg/dL). His morning plasma cortisol level was 1.6 mcg/dL (normal, 4-24 mcg/dL), and his adrenocorticotropic hormone concentration was <5 pg/mL (normal, 7-50 pg/mL), consistent with suppression of his hypothalamic-pituitary-adrenal axis. We believe that systemic absorption of triamcinolone and decreased metabolism of triamcinolone due to ritonavir caused this profound and persistent hyperglycemia and hypothalamic-pituitary-adrenal axis suppression. This case highlights the need for heightened awareness of potential interactions to avoid important adverse effects in patients who receive intra-articular corticosteroids.
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PMID:Metabolic derangement after injection of triamcinolone into the hip of an HIV-infected patient receiving ritonavir. 1963 8

De novo pathogenic variants in the human immunodeficiency virus enhancer type I binding protein 2 (HIVEP2) gene, a large transcription factor predominantly expressed in the brain have previously been associated with intellectual disability (ID) and dysmorphic features in nine patients. We describe the phenotype and genotype of two additional patients with novel de novo pathogenic HIVEP2 variants, who have previously unreported features, including hyperphagia and Angelman-like features. Exome sequencing was utilized in the investigation of the patients who had previously incurred a rigorous genetic workup for their neurodevelopmental delay, and in whom no genetic cause had been detected. Information pertaining to phenotype and genotype for new patients was collated along with data from previous reports, showing that the phenotypic spectrum of patients with HIVEP2 variants is broader than first noted. Additional characteristics are: an increased body mass index; and features of Angelman-like syndromes including: ID, limited speech, post-natal microcephaly, and hypotonia. Dysmorphic features vary between patients. As yet, no clear association between the type of gene aberration and phenotype can be concluded. HIVEP2-related ID needs to be considered in the differential diagnosis of patients with Angelman-like phenotypes and hyperphagia, and whole-exome sequencing should be considered in the genetic diagnostic armamentarium for patients with ID of inconclusive etiology.
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PMID:Expanding the phenotype of intellectual disability caused by HIVEP2 variants. 3120 95