Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020639 (hypoproteinemia)
 1,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a kind of inborn errors of metabolism, with the main clinic manifestations of jaundice, hepatomegaly, and abnormal liver function indices. As a mitochondrial solute carrier protein, citrin plays important roles in aerobic glycolysis, gluconeogenesis, urea cycle, and protein and nucleotide syntheses. Therefore citrin deficiency causes various and complicated metabolic disturbances, such as hypoglycemia, hyperlactic acidemia, hyperammonemia, hypoproteinemia, hyperlipidemia, and galactosemia. This paper reported a case of NICCD confirmed by mutation analysis of SLC25A13, the gene encoding citrin. The baby (male, 6 months old) was referred to the First Affiliated Hospital with the complaint of jaundice of the skin and sclera, which it had suffered from for nearly 6 months. Physical examination showed obvious jaundice and a palpable liver 5 cm below the right subcostal margin. Liver function tests revealed elevated enzymatic activities, like GGT, ALP, AST, and ALT, together with increased levels of TBA, bilirubin (especially conjugated bilirubin), and decreased levels of total protein/albumin and fibrinogen. Blood levels of ammonia, lactate, cholesterol, and triglyceride were also increased, and in particular, the serum AFP level reached 319,225.70 microg/L, a extremely elevated value that has rarely been found in practice before. Tandem mass analysis of a dried blood sample revealed increased levels of free fatty acids and tyrosine, methionine, citrulline, and threonine as well. UP-GC-MS analysis of the urine sample showed elevated galactose and galactitol. The baby was thus diagnosed with suspected NICCD based on the findings. It was then treated with oral arginine and multiple vitamins (including fat-soluble vitamins A, D, E, and K), and was fed with lactose-free and medium-chain fatty acids enriched formula instead of breast feeding. After half a month of treatment, the jaundice disappeared, and the laboratory findings, including liver function indices, blood levels of ammonia, lactate and AFP, were returned to normal level. The baby was followed up for 6 months. It developed well, and the abnormal laboratory findings, including MS-MS and UP-GC-MS analysis results, have been corrected, except a slightly elevated lactate level sometimes. SLC25A13 gene mutation analysis for the patient revealed a compound heterozygote of mutation 851del4 and 1638ins23 and therefore NICCD was definitely diagnosed.
 ...
PMID:[A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]. 1661 6

Clinical and hematological changes observed on presentation of 47 horses referred to the Ontario Veterinary College with acute idiopathic colitis were analyzed for their prognostic features. Cases of acute enterocolitis were characterized by fever, dehydration, abnormalities of serum electrolyte concentrations, azotemia, hypoalbuminemia, and increased serum concentrations of muscle enzymes. Severely dehydrated horses were seven times more likely to die or be euthanized than those that were not dehydrated. Other factors associated with failure to survive included the following: increased hematocrit, increased number of band neutrophils, increased serum creatinine and urea concentrations, and decreased blood pH and increasingly negative base excess. The results of multivariate variable analysis (stepwise logistic regression) suggested that, among the variables tested, base excess was the best predictor of death or survival. Twenty of 47 horses died or were euthanized. Reasons for death or euthanasia included: severe disseminated intravascular coagulation, unresponsiveness of severe metabolic acidosis and hypoproteinemia to treatments, and severity of colonic lesions on exploratory laparotomy. Of the surviving horses, three developed chronic laminitis (two were destroyed) and five developed jugular vein thrombosis. Fourteen of 16 horses for which subsequent histories were available returned to normal function.Early recognition of the disease, combined with early and aggressive correction of dehydration and of acid-base imbalance, may be important determinants of survival in horses with acute idiopathic colitis.
 ...
PMID:Prognostic features and clinical presentation of acute idiopathic enterocolitis in horses. 1742 69

A 67-year-old man with nausea, appetite loss, frequent diarrhea and severe weight loss presented with alopecia, skin hyperpigmentation and onychodystrophy. Laboratory investigations showed mild anemia, hypoproteinemia and hypoalbuminemia. Colonoscopy identified the numerous, hyperemic and sessile polyps with mucous exudation of various sizes throughout the colorectum. The ileocecal valve was substantially swollen. Magnified chromoendoscopy revealed sparsely distributed crypt openings with widening of the preicryptal space without destruction in the affected lesions. Upper gastrointestinal endoscopy revealed multiple small, reddish, and sessile polyps in the duodenum and Helicobacter pylori-associated gastritis. Histopathological examination of the colonic polyps revealed cystic dilatation and elongation of scattered glands with epithelial hyperplasia and stromal edema and inflammatory cell infiltrates. Thus, a diagnosis of Cronkhite-Canada syndrome was made. The patient was given clarithromycin, amoxicillin and lansoprazole, resulting in negative (13)C-urea breath tests. Three months later, his clinical symptoms and edema of the legs resolved with normalization of serum total protein and albumin levels and return to his previous body. The ectodermal abnormalities were resolved 8 months later. On repeat colonoscopic examinations, there was progressive remission of the duodenal and colorectal polyposis, leaving scattered pedunculated polyps in the transverse and ascending colon and on the almost normal-appearing ileocecal valve. At the follow-up magnifying endoscopic examination 8 months later, small round or round-oval pits were densely and regularly distributed.
 ...
PMID:A case of Cronkhite-Canada syndrome: remission after treatment with anti-Helicobacter pylori regimen. 1894 92

When blood plasma proteins are depleted by bleeding, with return of the washed red cells (plasmapheresis), it is possible to bring dogs to a steady state of hypoproteinemia and a constant level of plasma protein production if the diet nitrogen is controlled and limited. Such dogs are outwardly normal but have a lowered resistance to infection and to certain intoxications. Certain protein digests given by vein may favor good production of plasma protein, as well as nitrogen and weight equilibrium, over long periods in these standardized dogs. These digests may be equally effective when given subcutaneously or intraperitoneally and more effective orally (one dog). Certain other digests may not be well utilized. The total nitrogen of the protein digests is better retained upon oral feeding than parenteral injection. Most of the excess nitrogen excretion is not in the urea and ammonia fraction of the urine. The rate of plasma protein production may reach as high as 1 gm./kilo/day in the dog when ample protein of good quality is fed. The products of catabolism of red blood cells in vivo may add to the production of plasma protein, at least during the administration of casein digest by vein.
 ...
PMID:PLASMA PROTEIN PRODUCTION AS INFLUENCED BY PARENTERAL PROTEIN DIGESTS, VERY HIGH PROTEIN FEEDING, AND RED BLOOD CELL CATABOLISM. 1987 93

In experiments on rats we studied reabsorption and secretory activity of the mucosa in isolated segments of the ileum and sigmoid colon used for urinary bladder intestinoplasty after cystectomy. Ileal mucosa was found to retain high metabolic activity under changed conditions. It reabsorbs urea, creatinine, potassium, sodium, chlorine, phosphorus, calcium, glucose, and uric acid from the urine and secretes magnesium, iron, and proteins into the urine. Sigmoid mucosa appeared to be less active in terms of reabsorption of the studied urine metabolites, but more actively secreted calcium and magnesium into urine and additionally secreted sodium. It was accompanied by an increase in blood concentrations of urea, creatinine, glucose, phosphorus, magnesium (only for sigmoid colon) and development of hypoproteinemia. These findings are important for investigation and prevention of metabolic complications after urinary bladder intestinoplasty.
 ...
PMID:Comparative analysis of secretory and reabsorbing activity of ileal and sigmoid mucosa, employed for urinary bladder intestinoplasty. 2039 92

Contractile activity of the iliac and sigmoid intestines versus detrusor activity, reabsorption and secretory activity of the iliac and sigmoid intestinal mucosa in contact with urine were studied in 30 rats. It was found that isolated segments of the iliac and sigmoid intestines have spontaneous contractile activity (stronger in the iliac intestine) while bladder segment contracted only in response to electric stimulation. A contraction-stimulating effect of acetylcholine and a relaxing effect of noradrenaline in experiments with the iliac intestine were close to their effects on the detrusor. The sigmoid intestine responded weaker to the above mediators. The iliac mucosa actively reabsorbed urinary urea, creatinin, glucose causing elevation of their concentrations in blood as well as K, Na, Ca, CI, P and secreted protein in urine leading to hypoproteinemia. The sigmoid mucosa showed weaker metabolic activity. The results of the study demonstrate importance of consideration of biological properties of different intestinal regions for choice of a cystoplasty method after cystectomy.
 ...
PMID:[Biological aspects of choice of the intestinal segment for the cystoplasty]. 2096 92

An analysis of 72 criteria was made which include 5 main (hectic fever, tachycardia, leukocytosis with a neutrophilic shift to the left, decreased index of the relation of total protein to the amount of values of urea and creatinin less than 0.94 c.u., male sex), 3 additional (anemization, hypoproteinemia, decreased index of the relation of temperature to pulse rate less than 0.5 c.u.) and 1 determinant (the presence of liquid in the abdominal cavity and/or in the omental bursa and/or in the retroperitoneal space. In the presence of three of the main and one of additional signs the indications to operation are determined with probability 90.2%, and in the presence of three main and one additional and determinant--100%.
 ...
PMID:[Criteria determining indications to operative treatment of purulent complications of acute pancreatitis in patients who had endured endovideosurgical interventions at the enzymatic phase]. 2150 48

Hypothermia or cold-stunning is a condition in which the body temperature of an animal decreases below normal physiologic range and which has been linked to severe morbidity in sea turtles. Reports have focused on the physiologic changes caused by cold-stunning in Kemp's Ridley sea turtles (Lepidochelys kempii) and loggerhead sea turtles (Caretta caretta), but few have evaluated the green sea turtle (Chelonia mydas). This study evaluated hematologic and serum biochemical profiles of cold-stunned green sea turtles in North Carolina, USA. When compared with healthy, free-ranging juvenile green turtles from the same region, cold-stunned turtles exhibited hypoglycemia, hypocalcemia (both total and ionized calcium), hyponatremia, hypokalemia, hypoproteinemia, hypoalbuminemia, hyperphosphatemia, and elevations in uric acid and blood urea nitrogen. These findings contrast with some previously reported changes in cold-stunned Kemp's Ridley and loggerhead sea turtles. These results emphasize the importance of basing therapeutic regimens on biochemical analyses in cold-stunned sea turtles.
 ...
PMID:Evaluation of hematology and serum biochemistry of cold-stunned green sea turtles (Chelonia mydas) in North Carolina, U.S.A. 2294 2

Nephrotoxicity is a common toxic side-effect of chemotherapeutic alkylating agents. Although the base excision repair (BER) pathway is essential in repairing DNA alkylation damage, under certain conditions the initiation of BER produces toxic repair intermediates that damage healthy tissues. We have shown that the alkyladenine DNA glycosylase, Aag (a.k.a. Mpg), an enzyme that initiates BER, mediates alkylation-induced whole-animal lethality and cytotoxicity in the pancreas, spleen, retina, and cerebellum, but not in the kidney. Cytotoxicity in both wild-type and Aag-transgenic mice (AagTg) was abrogated in the absence of Poly(ADP-ribose) polymerase-1 (Parp1). Here we report that Parp1-deficient mice expressing increased Aag (AagTg/Parp1-/-) develop sex-dependent kidney failure upon exposure to the alkylating agent, methyl methanesulfonate (MMS), and suffer increased whole-animal lethality compared to AagTg and wild-type mice. Macroscopic, histological, electron microscopic and immunohistochemical analyses revealed morphological kidney damage including dilated tubules, proteinaceous casts, vacuolation, collapse of the glomerular tuft, and deterioration of podocyte structure. Moreover, mice exhibited clinical signs of kidney disease indicating functional damage, including elevated blood nitrogen urea and creatinine, hypoproteinemia and proteinuria. Pharmacological Parp inhibition in AagTg mice also resulted in sensitivity to MMS-induced nephrotoxicity. These findings provide in vivo evidence that Parp1 modulates Aag-dependent MMS-induced nephrotoxicity in a sex-dependent manner and highlight the critical roles that Aag-initiated BER and Parp1 may play in determining the side-effects of chemotherapeutic alkylating agents.
 ...
PMID:Parp1 protects against Aag-dependent alkylation-induced nephrotoxicity in a sex-dependent manner. 2739 35

Hepatozoonosis caused by Hepatozoon canis is an important tick-borne disease of dogs in tropical and sub-tropical regions throughout the world. In the present study evaluation of blood samples collected from 225 dogs presented at Small Animal Clinics, GADVASU, Ludhiana, Punjab (India) was done for the presence of H. canis by PCR based assay targeting a portion of 18S rRNA gene. Of the total samples subjected to PCR, an amplicon of 666bp was detected in 13.78% samples whereas, routine blood smear examination revealed gamonts in 5.78% samples. Furthermore, prevalence of H. canis infection was found to be significantly associated with season, being highest in summer and lowest in winter while other risk factors e.g. age, sex and breed showed non-significant association. In terms of various clinico-pathological parameters, significant drop in haemoglobin, total red blood cell count, packed cell volume and lymphocytes were recorded in positive cases whereas the total white blood cell count was non-significantly increased. The haematological alterations in the positive cases were lymphopenia, anaemia, thrombocytopenia, relative neutrophilia, neutrophilic leucocytosis, eosinophilia, monocytosis and lymphocytosis while the biochemical profile revealed hypoproteinemia and increased levels of blood urea nitrogen and creatinine (in positive cases) pointing towards renal failure.
 ...
PMID:Molecular prevalence, risk factors assessment and haemato-biochemical alterations in hepatozoonosis in dogs from Punjab, India. 2912 93


<< Previous 1 2 3 4 5 Next >>