Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three Chinese infants with methylmalonic acidaemia were described. They presented in the neonatal period with recurrent episodes of poor feeding, lethargy, apnoea and severe acidosis. The diagnosis was established by increased methylmalonic acid concentration in the plasma and/or urine. Pancytopenia was a prominent feature in all three patients. Only patient three had assessment of lymphocyte subsets and it showed diminished population of B-lymphocytes and a reversed CD4/CD8 ratio. All three patients were unresponsive to vitamin B12. They experienced severe infections including Gram-negative septicaemia, candidiasis and Pneumocystis carinii pneumonia which caused their deaths. Patients with this disease should be regarded as having severe immunodeficiency, and in addition to optimal metabolic control, they should be treated aggressively for any suspected infective episodes.
 ...
PMID:Immunodeficiency in methylmalonic acidaemia. 156 72

The clinical and morphologic findings of three patients with metabolic acidosis, methylmalonic aciduria, and homocystinuria are presented. The clinical evolution of the patients was similar and was characterized in the first weeks of life by failure to thrive, hypotonia, and lethargy associated with pancytopenia and hepatic dysfunction, eventually progressing to severe respiratory insufficiency and renal failure consistent with a hemolytic-uremic syndrome. The patients died at 40, 45, and 75 days of age. Biochemical analyses and complementation studies revealed a congenital anomaly of vitamin B12 metabolism (cobalamin C disease). Postmortem morphologic findings in all three cases were dominated by a thrombotic microangiopathy of the kidneys and lungs, diffuse hepatic steatosis, and megaloblastic changes in the bone marrow. A severe gastritis with striking cystic dysplastic mucosal changes and total absence of parietal and chief cells was a consistent finding in all three cases, the rest of the gastrointestinal tract appearing essentially normal. Cobalamin C disease is an intracellular defect of cobalamin metabolism with possible recessive inheritance that can result in multiorgan failure early in life, with a thrombotic microangiopathy and unusual changes in the gastric mucosa.
 ...
PMID:A congenital anomaly of vitamin B12 metabolism: a study of three cases. 156 46

Eight patients with hairy-cell leukaemia (HCL) complicated by pancytopenia were treated with low dose regimens of the adenosine deaminase (ADA) inhibitor 2'-deoxycoformycin (DCF). All patients had significant haematological and clinical improvement. One patient who had been splenectomized and five patients with mild to moderate splenomegaly achieved normal blood counts within 2 months, which have been maintained for up to 18 months. Complete remissions occurred in two patients and four patients had 50-95% marrow clearance of hairy cells. The initial DCF treatments produced a 1-3 g/dl fall in the haemoglobin levels and one patient had a temporary reduction in granulocyte and platelet counts. Five patients had nausea/vomiting, and/or lethargy following DCF, but there was no correlation between the plasma levels of deoxyadenosine and adenosine and the incidence or severity of these side effects. An increased incidence of infection and drug hypersensitivity may reflect the effects of DCF on the immune system. Low dose DCF is a highly effective agent in HCL.
 ...
PMID:The treatment of hairy-cell leukaemia with 2'-deoxycoformycin. 348 71

A 34 year old female developed impaired function of her renal allograft 21 months post-transplant. This was associated with lethargy, pyrexia, tenosynovitis, pancytopenia and a colonic ulcer. Severe tubulo-interstitial changes with intranuclear inclusion bodies and intracytoplasmic herpes type viral particles were seen on renal biopsy. There was no evidence of rejection. Cytomegalovirus was cultured from the urine and there was a rise in CMV antibody titer. These findings suggested the renal impairment was due to a direct cytopathic effect of the CMV. Despite treatment with transfer factor and adenine arabinoside, there was progressive loss of graft function.
 ...
PMID:Severe tubulo-interstitial disease in a renal allograft due to cytomegalovirus infection. 629 75

We used repeated leukapheresis in the long-term management of chronic lymphocytic leukemia. Twelve patients with far-advanced disease that was refractory to standard forms of therapy, were studied. Six patients completed a predefined course of therapy. Although a single patient responded favorably for a period of time, no other patient was benefited by this treatment. While circulating lymphocyte counts in these patients always could be reduced, generally, this was not associated with improvements in pancytopenia, hypogammagobulinemia, adenopathy, organomegaly, or constitutional symptoms of lethargy, fevers and night sweats. Mean survival was only ten months from onset of therapy. We conclude that long-term leukapheresis is ineffective in the management of far-advanced chronic lymphocytic leukemia.
 ...
PMID:Use of long-term leukapheresis in the treatment of chronic lymphocytic leukemia. 677 92

One hundred cases of monocytic ehrlichiosis diagnosed in Israeli dogs were confirmed by the presence of anti-Ehrlichia canis indirect immunofluorescent antibody titres greater than 1:40. The disease occurred in all age groups and there was no sex predilection. German shepherd dogs were significantly over-represented whereas crossbreed dogs were significantly under-represented (P > 0.0005). The most common clinical signs were depression, lethargy, lymphadenomegaly, fever, anorexia, panting, pale mucous membranes and bleeding, of which epistaxis was most common. Thrombocytopenia, anaemia (mainly normocytic normochromic) and lymphopenia were the predominant haematological findings. Forty-nine of the 100 cases were followed up for a year. Thirty-two dogs survived and 17 died. A Cox proportional hazards regression model was used to examine the effect of host, environmental, and haematological prognostic factors on survival. It was concluded that severe anaemia, severe leucopenia, pancytopenia, a tendency to bleed (especially epistaxis) and being a German shepherd dog were important indicators of poor survival in cases of monocytic ehrlichiosis in dogs.
 ...
PMID:Canine monocytic ehrlichiosis: a retrospective study of 100 cases, and an epidemiological investigation of prognostic indicators for the disease. 935 Nov 83

Isovaleric acidemia, an autosomal recessive disorder, is due to isovaleryl-coenzyme A dehydrogenase deficiency and is one of the branched-chain aminoacidopathies. Isovaleric acidemia may present in the neonatal period with an acute episode of severe metabolic acidosis, ketosis, and vomiting and may lead to coma and death in the first 2 months of life. This report concerns an infant who presented at 10 days of age because of lethargy, poor feeding, hypothermia, cholestasis, and thrombocytopenia, leukopenia, and profound pancytopenia. Death occurred at 19 days of age. Autopsy showed mild fatty change in the liver and extramedullary hematopoiesis, generalized Escherichia coli sepsis, and myelodysplasia of the bone marrow with arrest of the myeloid series at the promyelocytic stage. The appearance resembled promyelocytic leukemia, but the diagnostic 15:17 translocation was not present. The maturation arrest in granulopoiesis in isovaleric acidemia appears to be most likely due to a direct metabolic effect on granulocyte precursor cells.
 ...
PMID:Isovaleric acidemia with promyelocytic myeloproliferative syndrome. 1019 53

A 6-mo-old hand-raised male western lowland gorilla (Gorilla gorilla gorilla) was diagnosed with acute lymphocytic leukemia based on complete blood count and bone marrow cytology. Clinical signs of the disease were pyrexia, abdominal distention, splenomegaly, and lethargy. Acute lymphocytic leukemia has rarely been reported in this species, and therapy was based on human oncologic protocols. Remission induction chemotherapy resulted in complete clearing of leukemia cells from the bone marrow. Consolidation and maintenance chemotherapy followed. Therapy was facilitated by the use of an infusion port for i.v. treatments and an indwelling lumbar catheter for intrathecal therapy. Side effects associated with chemotherapy were inappetence, moderate alopecia, pancytopenia resulting in sepsis, and bleeding tendency. In spite of initial success, the leukemia reappeared 120 days into treatment. The gorilla was euthanized 7 days later when respiratory distress developed. Intensive care by the animal staff was a key factor in the treatment of this gorilla.
 ...
PMID:Acute lymphocytic leukemia in a six-month-old western lowland gorilla (Gorilla gorilla gorilla). 1048 44

Although cutaneous leishmaniasis is occasionally seen in Australia in overseas travellers and migrants, visceral leishmaniasis has been reported rarely and only in people who were immunocompromised. We describe an 18-year-old immunocompetent man who presented with pancytopenia and a 2-week history of fever and lethargy a year after visiting the Greek Islands. Visceral leishmaniasis was diagnosed after a bone marrow biopsy showed protozoa, and the patient responded well to treatment with liposomal amphotericin. To our knowledge, this is the first case of visceral leishmaniasis in an immunocompetent patient in Australia.
 ...
PMID:Visceral leishmaniasis: a trip to the Greek Islands is not always idyllic. 1548 64

A frail 78-year-old man presented with lethargy, fever, splenomegaly and pancytopenia. Bone marrow aspirate showed marked haemophagocytosis. A diagnosis of haemophagocytic syndrome secondary to diffuse splenic large B-cell lymphoma was eventually made. Treatment with laparascopic splenectomy was successful. Secondary haemophagocytic syndrome is a rare complication of many common conditions, and is fatal if untreated. A brief literature review is included.
 ...
PMID:Non-fatal haemophagocytic syndrome in an elderly patient. 1610 62


1 2 3 4 Next >>