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

Clinical observations of Babesia canis infection in 63 dogs during a 1-year period are summarised, demonstrating the pathogenicity of the Babesia strain endemic in Hungary. Most patients had babesiosis in the spring and autumn, correlating with the seasonal activity of ticks. Male animals appeared in higher numbers, probably due to an overrepresentation of outdoor dogs. Uncomplicated babesiosis was diagnosed in 32 cases. The disease affected dogs of any age in this study. Symptoms were similar to those published from other parts of the world: lethargy, fever, splenomegaly, pallor, icterus, haemoglobinuria and presence of ticks were the most common observations. Thrombocytopenia, lymphopenia and neutropenia were frequent haemogram changes. Imidocarb appeared to be highly effective in eliminating the Babesia infection. Thirty-one animals demonstrated babesiosis with complications. Most Rottweilers (7/9) developed complicated disease. Old age was a risk factor for multiple complications. Multiple organ manifestations had poor prognosis. Hepatopathy (44%), pancreatitis (33%), acute renal failure (ARF; 31%) and disseminated intravascular coagulation (DIC; 24%) were frequent complications, while immune-mediated haemolytic anaemia (IMHA; 10%), acute respiratory distress syndrome (ARDS; 6%) and cerebral babesiosis (3%) were rarely observed. There was a significant difference between the mean age of dogs having uncomplicated disease, babesiosis with a single complication and babesiosis with multiple complications (3.4, 4.8 and 8.6 years, respectively, p < 0.001). The recovery rate (78, 68 and 25%, respectively, p = 0.005) and mortality rate (3, 21 and 67%, respectively, p < 0.001) also tended to differ significantly in these groups. Systemic inflammatory response syndrome (SIRS) and DIC are two possible pathways leading to multiple organ dysfunction syndrome (MODS) in babesiosis. DIC was found to predict MODS more sensitively in this study than SIRS: there were 6 animals developing MODS out of 11 identified with DIC, while only 5 dogs developed MODS out of 22 having SIRS.
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PMID:Clinical manifestations of canine babesiosis in Hungary (63 cases). 1702 Jan 40

Late-onset urea cycle disorder in a 20-month-old boy is unusually associated with Klinefelter syndrome with a 47XXY karyotype. We record the typical clinical and biochemical findings of ornithine transcarbamylase (OTC) deficiency in a young boy with a short history of recurrent vomiting, self mutilating behaviour, lethargy, ataxia and seizures. Laboratory studies showed hyperammonaemia and orotic aciduria, with normal citrulline and other urea cycle amino acids. Unfortunately, a liver biopsy for OTC activity measurement was refused by the parents. A rapid reversal of phenotype was seen on the introduction of a low-protein diet with accompanying benzoate and phenylbutyrate administration. Linkage studies suggested the inheritance of two X chromosomes, which was confirmed by karyotype analysis. Sequencing of all exons and immediate splice site regions revealed no sequence alterations in these sections of the OTC gene. A search for skewing of X-inactivation in the liver was not possible but we did show a random pattern of X-inactivation in leukocytes. The possibility of maternal X chromosome iso-disomy in our patient was discounted by microsatellite analysis, which revealed the inheritance of two independent X chromosomes. Mutation analysis in the OTC gene has shown that approximately 20% of patients with liver biopsy confirmed OTC deficiency do not have mutations in the coding or immediate splice-site sequences of this gene. Their classification as OTC phenocopies remains speculative, awaiting clarification of the underlying DNA alteration. We report on the novel association of OTC deficiency and Klinefelter syndrome with the additional interest of a probable unusual genetic defect underlying the OTC abnormality.
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PMID:An OTC deficiency 'phenocopy' in association with Klinefelter syndrome. 1718 14

Ornithine transcarbamylase deficiency is the most common inherited urea cycle disorder. Its clinical manifestations as lethargy, vomites, coma and cerebral edema are the effect of the higher concentration of the ammonia in plasma. Hyperammonemia, caused by mutation in ornithine transcarbamylase gene, is often considered as a reason of coma by pediatricians but skipped by internist, although it is the third reason of hepatic coma in adults. This article is the recapitulation of published studies and their implication on everyday clinical practice.
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PMID:[Hyperammonemia type II as an example of urea cycle disorder]. 1720 50

A 6-day-old, female roan antelope (Hippotragus equinus cottoni) was diagnosed with a single intrahepatic portosystemic venous shunt at necropsy. Clinical signs had included weakness, lethargy, hypothermia, diarrhea, and a weak suckle response. Multiple seizure episodes were associated with hypoglycemia and characterized by vocalization, muscle fasciculations, and disorientation. Hematologic abnormalities included anemia with hypochromasia, anisocytosis, poikilocytosis, and leukopenia with neutropenia and lymphopenia. Serum biochemical abnormalities included elevations in blood urea nitrogen and total serum bile acid concentration. A portosystemic vascular anomaly should be a differential diagnosis for nonthriving, exotic ruminant calves with overt or subtle neurologic signs, persistent hypoglycemia, and/or elevated bile acids. In very young calves, total bile acid concentration may be more useful in establishing a diagnosis than blood ammonia concentration.
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PMID:Intrahepatic portosystemic venous shunt in a neonatal roan antelope (Hippotragus equinus cottoni). 1731 83

The urea cycle is the major metabolic pathway for excretion of waste nitrogen. Ornithine transcarbamylase deficiency is the most frequent urea cycle disorder. It is a hereditary-X-linked disease with over 150 mutations described. Ornithine transcarbamylase deficiency causes vomiting, lethargy, hyperventilation, and even death, mainly in the neonatal period. Ammonia, an extremely toxic molecule for the organism, is generated during protein catabolism and is accumulated in patients with this deficiency. Part of the treatment consists of a low-protein diet, to avoid hyperammonemia episodes, which can even have a fatal outcome. Patients can become deficient in several amino acids, either through the low-protein diet or directly through the primary enzyme deficiency; this in turn can cause an acrodermatitis enteropathica-like dermatosis.
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PMID:Acrodermatitis enteropathica-like dermatosis associated with ornithine transcarbamylase deficiency. 1784 64

Hyperammonemia, with confusion and lethargy, developed in a 83-year-old woman during a urinary tract infection by Morganella morganii, a urea-splitting Gram-negative bacillus. In this patient, it is thought to have resulted from the production of excessive amounts of ammonia due to bacterial urease and its subsequent reabsorption into systemic circulation. The patient was treated with specific antibiotic therapy, with resolution of the urinary tract infection, progressive reduction in ammonia blood levels, and a parallel improvement in her consciousness and cognitive status.
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PMID:An unusual case of hyperammonemia in a 83-year-old woman. 1817 74

Six hundred sixty-five crossbred beef heifers initially weighing 225 kg were used in a completely randomized design to measure plasma glucose, lactate, and urea N concentrations at time of initial processing, determine the incidence of apparent bovine respiratory disease (BRD) in receiving cattle, and evaluate the effect of apparent BRD on subsequent cattle growth and carcass characteristics. Heifers were processed within 24 h of arrival, and processing included vaccination against common viral and clostridial diseases, recording rectal temperature, and sampling whole blood for subsequent measurement of plasma glucose, lactate, and urea concentrations. Heifers were monitored for clinical signs of apparent BRD, including depression, lethargy, anorexia, coughing, rapid breathing, and nasal or ocular discharge. Heifers exhibiting signs of apparent BRD received antibiotic therapy, and the number of times a heifer was treated for apparent BRD was recorded. Following the 36-d receiving period, heifers were transported to native grass pastures and allowed to graze for 136 d. At the end of the grazing season, heifers were transported to a commercial feedlot where they were adapted to a common finishing diet offered for ad libitum consumption. Following the 124-d finishing period, heifers were slaughtered and carcass data were collected. Heifers treated for apparent BRD had decreased plasma glucose (linear, P < 0.01), lactate (linear, P < 0.01), and urea N concentrations (linear, P < 0.06) measured at time of initial processing. Rectal temperature measured at time of initial processing tended to be greater (linear, P < 0.11) for heifers treated for apparent BRD. Heifers treated for apparent BRD during the receiving period had decreased overall ADG (linear, P < 0.10), final BW (linear, P < 0.01), HCW (linear, P < 0.01), fat thickness (linear, P < 0.01), and marbling score (linear, P < 0.03). These data suggest that initial plasma glucose and lactate concentrations might be affected by the health status of receiving cattle and that increased incidence of apparent BRD in cattle decreases ADG and carcass quality.
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PMID:Plasma metabolites of receiving heifers and the relationship between apparent bovine respiratory disease, body weight gain, and carcass characteristics. 1882 Jan 62

Inborn errors of metabolism (IEM) can have their onset in adolescence or in adulthood. Although it is difficult to contribute exact data on prevalence -because there are few studies in this respect, and IEM are regarded as infrequent- their detection is important due to the possibilities for therapy and family genetic counselling. The main symptoms of IEM in the adult are neurological, followed by hepatic. Two basic modes of onset can be established. One is acute, normally taking the form of consciousness alteration, lethargy, coma of unknown etiology in a previously healthy patient (urea cycle deficits, homocysteine remethylation disorders and porphyries are the most frequent causes). The other is an insidious, often progressive, chronic symptomathology that can involve complex clinical features, and more rarely a symptom that is isolated in a persistent way (Wilson's disease, mitochondrial diseases, lysosomal storage disorders, Refsum's disease and glycogenosis are some examples of this group). It is especially important to determine the forms of acute onset as these can present situations of extreme emergency where appropriate conduct can prevent the death of the patient. In this case, simple laboratory examinations, such as determination of ammonia, homocysteine, lactate, acylcarnitines, amino acids, organic and porfirines, can guide the diagnosis and enable the start of intensive treatment. This article provides a practical approach that deals with the general characteristics and the clinical keys for suspecting the most usual IEMs in the adult.
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PMID:[Adult-onset metabolic diseases]. 1895 73

Because of its excellent optical performance and electrical properties, TiO2 has a wide range of applications in many fields. It is often considered to be physiologically inert to humans. However, some recent studies have reported that nano-sized TiO2 may generate potential harm to the environment and humans. In this paper the in vivo acute toxicity of nano-sized TiO2 particles to adult mice was investigated. Mice were injected with different dosages of nano-sized TiO2 (0, 324, 648, 972, 1296, 1944 or 2592 mg kg(-1)). The effects of particles on serum biochemical levels were evaluated at various time points (24 h, 48 h, 7 days and 14 days). Tissues (spleen, heart, lung, kidney and liver) were collected for titanium content analysis and histopathological examination. Treated mice showed signs of acute toxicity such as passive behavior, loss of appetite, tremor and lethargy. Slightly elevated levels of the enzymes alanine aminotransferase and aspartate aminotransferase were found from the biochemical tests of serum whereas blood urea nitrogen was not significantly affected (P < 0.05). The accumulation of TiO2 was highest in spleen (P < 0.05). TiO2 was also deposited in liver, kidney and lung. Histopathological examinations showed that some TiO2 particles had entered the spleen and caused the lesion of spleen. Thrombosis was found in the pulmonary vascular system, which could be induced by the blocking of blood vessels with TiO2 particles. Moreover, hepatocellular necrosis and apoptosis, hepatic fibrosis, renal glomerulus swelling and interstitial pneumonia associated with alveolar septal thickening were also observed in high-dose groups.
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PMID:In vivo acute toxicity of titanium dioxide nanoparticles to mice after intraperitioneal injection. 1915 10

Citrullinemia type I (CTLN1, OMIM# 215700) is an inherited urea cycle disorder that is caused by an argininosuccinate synthetase (ASS) enzyme deficiency. In this report, we describe two spontaneous hypomorphic alleles of the mouse Ass1 gene that serve as an animal model of CTLN1. These two independent mouse mutant alleles, also described in patients affected with CTLN1, interact to produce a range of phenotypes. While some mutant mice died within the first week after birth, others survived but showed severe retardation during postnatal development as well as alopecia, lethargy, and ataxia. Notable pathological findings were similar to findings in human CTLN1 patients and included citrullinemia and hyperammonemia along with delayed cerebellar development, epidermal hyperkeratosis, and follicular dystrophy. Standard treatments for CTLN1 were effective in rescuing the phenotype of these mutant mice. Based on our studies, we propose that defective cerebellar granule cell migration secondary to disorganization of Bergmann glial cell fibers cause cerebellar developmental delay in the hyperammonemic and citrullinemic brain, pointing to a possible role for nitric oxide in these processes. These mouse mutations constitute a suitable model for both mechanistic and preclinical studies of CTLN1 and other hyperammonemic encephalopathies and, at the same time, underscore the importance of complementing knockout mutations with hypomorphic mutations for the generation of animal models of human genetic diseases.
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PMID:Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes. 2072 89


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