Gene/Protein Disease Symptom Drug Enzyme Compound
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The clinicopathological features of a previously unrecognised type of acute encephalopathy prevalent among Japanese children is described by reviewing the records of 13 consecutive patients treated and 28 previously reported cases. The hallmark of this encephalopathy, proposed to be a novel entity termed acute necrotising encephalopathy of childhood, is multiple, necrotic brain lesions showing a symmetric distribution. The encephalopathy was noted in previously healthy children after respiratory tract infections, with presenting symptoms of coma, convulsions, vomiting, hyperpyrexia, and hepatomegaly. Laboratory examinations disclosed liver dysfunction, uraemia, and hypoproteinaemia. The histological appearance of the liver was variable and non-specific. Cerebrospinal fluid contained an increased amount of protein. Computed tomography and MRI showed the presence of symmetrically distributed brain lesions of the thalamus, cerebral white matter, brainstem, and cerebellum. Necropsy examination confirmed extensive fresh necrosis of these regions with evidence of local breakdown of the blood-brain barrier. Based on the characteristic combination of clinical and pathological findings, acute necrotising encephalopathy of childhood can be distinguished from previously known encephalopathies, including Reye's syndrome.
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PMID:Acute necrotising encephalopathy of childhood: a new syndrome presenting with multifocal, symmetric brain lesions. 2996 23

Diet and nutrition are integral to the management of individuals with renal disease. Uremia engenders anorexia, nausea, meat aversion, and emesis, disturbances that ultimately reduce appetite and cause weight loss and malnutrition. Protein restriction can alleviate these uremic symptoms and improve patient health and vigor, but overly zealous protein restriction may, itself, produce malnutrition. This is particularly likely when energy intake is restricted by either design or anorexia. End-stage renal disease patients require renal replacement therapy for survival, and although dialysis is life sustaining, it neither replaces normal kidney function nor obviates the need for dietary management. In this setting of controlled, persistent uremia, undernutrition can develop surreptitiously. Dialysis physicians have long regarded malnutrition as a sign of uncontrolled uremia and failing health. This supposition has now been validated by epidemiologic studies demonstrating that serum albumin and protein catabolic rate (PCR) discriminate between dialysis patients at high and low risk of death or illness. This correlation of undernutrition with health and survival persists across wide ranges of age, medical diagnoses, and dialysis prescriptions. Because PCR is readily measured using urea kinetic analyses, it has been promoted as a patient monitoring tool and under steady-state conditions it is a reliable method of determining protein intake. Although a single PCR measurement does not integrate day-to-day dietary and metabolic fluctuations and contains an inherent uncertainty of +/- 20%, sequential measurements can be used to assess changes in an individual's dietary protein intake. PCR defines nitrogen losses and, when normalized to a realistic index of metabolic activity (metabolically active body size), it can disclose subtle individual variances in nitrogen utilization. These normalized protein catabolic rates (NPCR) do not, however, measure or describe overall nutrition. The normalization schemes employed are based on population averages and only approximate an individual's true metabolic activity. Thus, using NPCR to define nutritional needs can result in overfeeding obese and underfeeding wasted subjects. Instead, nutritional adequacy should be defined by clinical inspection and comparison with defined standards. Once that state is defined, and desirable protein and calorie intakes are determined, NPCR can be used to monitor the patient's ability to maintain homeostasis.
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PMID:The significance of protein intake and catabolism. 859 Nov 24

Dogs and cats with uremia may display abnormalities of essentially all parts of the gastrointestinal (GI) tract. Abnormalities may be mild or severe. They may result from inflammation, edema, erosions, ulceration, and/or necrosis. Clinical signs of GI complications or uremia may include anorexia, nausea, vomiting, abdominal pain, diarrhea, and GI bleeding. This article discusses the GI manifestations of uremia according to anatomic sites and also describes the management of common clinical problems as they relate to uremic GI abnormalities.
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PMID:Managing gastrointestinal complications of uremia. 891 Oct 20

Pericarditis is a frequent and serious complication of chronic uremia. The uremic pericarditis can get much improvement by aggressive heparin-free hemodialysis therapy. However, the presenting symptoms and signs are too nonspecific to identify at early stage. Cardiac tamponade is the late and fatal complication, and need the immediate & adequate management. A 35-year-old female patient suffered from nausea, vomiting and right upper quadrant dull pain in November 1993, and was admitted to a local hospital. Uremia (BUN: 210 mg/dl, serum Cr.: 13.2 mg/dl) and abnormal liver function (SGOT: 330 IU/L, SGPT: 449 IU/L) were found, then she received regular hemodialysis therapy. About 10 days later, acute exacerbation of liver function (SGOT: 2,488 IU/L, SGPT: 1,048 IU/L), consciousness disturbance and hypotension occurred during hemodialysis. She was referred to our ER immediately. At ER, she had been on comatous, shock state with pulseless electric activity. After resuscitation and serial evaluation, cardiac tamponade was diagnosed. Emergent pericardiocentesis and then bilateral partial pericardiectomy were done about 2 hours later. The pericardial effusion was bloody without evidence of malignancy, bacterial or TB infection. The pathology of pericardium revealed chronic inflammation only. HBsAg, Anti-HCV Ab, and anti-HAV IgM were undetectable. So the etiology of acute hepatitis was diagnosed as ischemic hepatitis. Her general condition and vital sign became stable thereafter. The liver function also improved rapidly. She was discharged one month later and received maintainance hemodialysis therapy and no evidence of recurrence till now.
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PMID:[Acute uremic pericarditis presented as cardiac tamponade with acute ischemic hepatitis: a case report]. 904 74

Membranoproliferative glomerulonephropathy was diagnosed in 5 of 7 adult Beagles from the same litter. Dogs were raised in more than 1 area of the United States. One died without evidence of renal disease when it was 3 years old. At 8 years of age, 2 dogs developed signs of uremia, including polyuria, polydipsia, and infrequent episodes of anorexia and vomiting. Serum biochemical variables and urine specific gravity values were consistent with renal azotemia. Both dogs had proteinuria. Although healthy, 3 of the 4 remaining Beagles had proteinuria. Of these 3, only 1 was azotemic. Membranoproliferative glomerulonephritis was diagnosed on the basis of results of histologic examination of renal biopsy specimens from 4 of the dogs. Electron microscopy performed on 3 of the renal biopsy specimens revealed identical lesions, consisting of an extremely thickened glomerular basement membrane with multilaminar splitting. Immunoglobulin or amyloid deposits were not detected. On the basis of similar clinicopathologic abnormalities, common genetic background, and identical histopathologic and electron microscopic findings, familial renal disease was diagnosed. Additional studies involving other related Beagles are needed to identify the hereditary nature of membranoproliferative glomerulonephropathy in Beagles.
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PMID:Familial glomerulonephropathy in a litter of beagles. 1063 17

A 2-year-old Himalayan cat was examined because of 4 days of vomiting, lethargy; and anorexia. The cat had undergone hysterectomy and removal of left ovarian remnants 5 days earlier. Results of laboratory testing and excretory urography were consistent with uremia and bilateral ureteral obstruction. Nephrostomy catheters were placed to drain urine and allow time for physiologic diuresis prior to definitive repair. During the next 2 days, the cat's physiologic status improved greatly. The cat underwent exploratory surgery, and both ureters were found to be ligated. The healthy proximal portions of the ureters were implanted into the bladder. Six months after surgery, the cat was doing well, and excretory urography demonstrated that both ureters were patent. Bilateral obstruction of the ureters is a life-threatening condition that can be difficult to correct in cats. Placement of nephrostomy catheters allows time for improvement in the cat's physiologic status prior to the protracted anesthesia time needed for surgical repair of the ureters.
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PMID:Use of bilateral temporary nephrostomy catheters for emergency treatment of bilateral ureter transection in a cat. 1113 93

Mediterranean spotted fever (MSF) is the most important tick-borne disease in Portugal. It is a notifiable disease and during 1989-2000 the annual incidence rate in Portugal was 9.8/10(5) inhabitants. Although recognized as a benign acute disease and treated mainly with ambulatory procedures, some cases are severe and fatalities have increased in the last few years. In 1997, MSF mortality became more evident in Beja, a Portuguese southern district, with a case fatality rate of 32.3% in hospitalized patients. Analysis of 55 variables regarding epidemiologic, clinical, laboratory, and therapeutic data of fatal and nonfatal MSF cases were compared to identify risk factors in 105 patients hospitalized in Beja District Hospital, between 1994 and 1998. It was statistically significant that the patients dying in 1997 were younger than those in other years. The risk of dying is statistically significant in those who presented with diabetes, vomiting, dehydration, and uremia. The interval between the onset of symptoms to administration of anti-rickettsial therapy was the same for all patients. Therapy delay, reported by some authors to be associated with mortality of MSF, was not a risk factor in our study. The patients who died in 1997 died faster than those in other years. The variables studied could not explain the higher mortality rates observed in our study. Although one may speculate that the pathogenic strain of Israeli tick typhus, isolated in 1997, could be responsible for this increase of fatality rate, inherited patient factors might also be strongly associated with mortality.
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PMID:Mediterranean spotted fever in Portugal: risk factors for fatal outcome in 105 hospitalized patients. 1286 Jun 41

Loss of excretory function in acute renal failure results in the retention of catabolites and fluid. In the absence of available carbohydrate, endogenous fat and protein become the main caloric sources. This results in the rapid accumulation of keto acids and nitrogenous wastes. By providing readily available non-nitrogenous calories, protein catabolism is reduced, complete oxidation of fat is obtained and energy is provided to drive potassium into the intracellular compartment. The patient should be encouraged to eat despite his apathy, fear of vomiting and characteristically paranoid mood. Tube or parenteral feeding is complicated by the need to restrict fluid. Numerous small feedings are more successful than large meals. Hard candy and alcohol are often acceptable sources of calories, fat emulsions seldom. Oral hygiene aids feeding, and tranquilizers and anticholinergics are useful. If the patient does not take food by mouth, tube feeding may be carried out. Because of the bleeding tendency so often occurring in uremia, tube feeding may be contraindicated if it causes erosion of the pharynx or esophagus. Intravenous infusion of invert sugar, glucose and alcohol may be necessary if nutrition cannot be accomplished by other means.
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PMID:Importance of caloric intake during renal failure. 1358 43

Gastroesophageal reflux (GER), defined as passage of gastric contents into esophagus, and GER disease (GERD), defined as symptoms or complications of GER, are common pediatric problems encountered by both primary and specialty medical providers. Clinical manifestations of GERD in children include vomiting, poor weight gain, dysphagia, abdominal or substernal pain, esophagitis and respiratory disorders. On the other hand, recurrent vomiting is the symptom of hydronephrosis, brain tumor, food allergy, uremia, other metabolic disease, obstruction of intestine etc. It is very important for clinicians dealing with children and infants to understand GERD. The evaluation and treatment of gastroesophageal reflux in infants and children were reviewed here.
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PMID:[Evaluation and treatment of gastroesophageal reflux in infants and children]. 1534 50

Renal failure remains a serious cause of mortality in Yemen. Our region has 1.25 million population and our hospital is the central hospital, which has a nephrology department and performs dialysis for the region. Between January 1998 and December 2002, we admitted 547 patients; including children, with acute renal failure (ARF) and chronic renal failure (CRF). CRF was observed in 400 patients, an incidence of 64 per million per year and a prevalence of 320 per million. ARF occurred in 147 persons with an incidence of 23.5 per million per year and a prevalence of 117.5 patients per million. Of all patients, 72% were adults (age range, 20-60 years) with a male preponderance. As a tropical country, malaria (27.9%), diarrhea (13.6%), and other infectious diseases were the main causes. Next most common were obstructive diseases causing CRF and ARF (26.8% and 12.9%, respectively), mainly urolithiasis, Schistosomiasis, and prostatic enlargement. However the cause of CRF in 57.5% of patients was unknown as most persons presented late with end-stage disease (64.7%), requiring immediate intervention. Other causes, such as hepatorenal syndrome, snake bite, diabetes mellitus, and hypertension, showed low occurrence rates. Patients presented to the hospital mostly in severe uremia and without a clear history of prior medications. The major findings were vomiting, acidosis, and hypertension with serum creatinine values ranging between 2.8-45 mg/dL (mean value, 13.4 mg/dL). Anemia was observed in 80.4% of CRF versus 62.6% of ARF patients. Hypertension prevalence was 65.5% among CRF patients, of whom 25% were in hypertensive crisis, whereas among ARF the prevalence was only 26.5%.
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PMID:Renal failure in Yemen. 1535 Apr 75


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