Gene/Protein Disease Symptom Drug Enzyme Compound
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 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cystic fibrosis is the most common fatal inherited disease of Caucasians. At present, cystic fibrosis accounts for most cases of chronic progressive pulmonary disease and for many other clinical features in the first three decades of life. Thus, it is a challenge to both pediatricians and internists, particularly chest physicians. The diagnosis is based on the triad of chronic obstructive pulmonary disease, pancreatic insufficiency, and increased levels of electrolytes in the sweat. The cardinal test for confirmation of the diagnosis is the "sweat test," which is an excellent discriminant for cystic fibrosis, even in adults. Ancillary features of cystic fibrosis may be of diagnostic assistance (eg, nasal polyposis, Pseudomonas aeruginosa in sputum, azoospermia, and others). Treatment of the pulmonary disease must be emphasized. Choice of antibiotics should be based on the results of sputum culture, but P aeruginosa is the most common pathogen. Removal of secretions by regular postural drainage and percussion is an integral part of the program. Pneumothorax, massive hemoptysis, cor pulmonale, and other complications may be encountered. Sinusitis is almost universal, and nasal polyposis is frequently present. Pancreatic insufficiency occurs in over 80 percent of the patients with cystic fibrosis and may result in intestinal malabsorption. Massive salt loss through the sweat in hot weather, a distinctive type of biliary cirrhosis without jaundice, gallbladder abnormalities, cholelithiasis, and diabetes mellitus also may be found. Of special importance are intestinal obstructive complications (meconium ileus in newborn infants with cystic fibrosis and intestinal obstruction due to fecal accumulation or intussusception in adults). Azoospermia is present in 95 percent of men and there is reduced fertility in women; however, pregnancy does occur in cystic fibrosis. This chronic and ultimately fatal disease produces a predictable set of psychosocial complications.
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PMID:Diagnosis and treatment of cystic fibrosis. An update. 637 70

A 49-year-old woman ate N-3-pyridylmethyl-N'-p'nitrophenylurea (PNU; Vacor) and was admitted to the hospital 12 hours later with a blood glucose level of 940 mg/dl and an anion-gap metabolic acidosis. Her diabetes was successfully treated, but she contained to manifest severe orthostatic hypotension. A painless ileus developed, followed by cecal perforation and death. Immunoperoxidase staining of paraffin-embedded pancreatic tissue obtained during postmortem examination clearly demonstrated the pancreatic beta-cell destruction. Results of this same staining technique also suggested that fewer alpha cells were present.
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PMID:Poisoning with N-3-pyridylmethyl-N'-p-nitrophenylurea (Vacor). Immunoperoxidase demonstration of beta-cell destruction. 701 53

Because the lifespan of patients with cystic fibrosis is now longer, both pediatricians and adult care physicians are involved in the health care strategy. Respiratory manifestations occur due to bronchial dilatation and chronic bronchial infection, mainly due to Staphylococcus aureus and Pseudomonas. Episodes of adult infection are frequent and death usually results from respiratory failure. Characteristically, the disease also involves exocrine pancreas insufficiency. Other intestinal tract manifestations include meconial ileus and liver disease which may reach the stage of biliary cirrhosis. Nutritional disorders are frequent. Clinically there are respiratory and digestive tract disorders, pansinusitis and frequent nasal polyposis, sometimes associated with diabetes mellitus or joint pain. Male sterility results from bilateral agenesia of the vas deferens and in the female, fertility is decreased although pregnancy is possible. Clinical presentation suggests the diagnosis which is confirmed by a sweat test and genetic analysis. Care should be provided by a centre specialized in cystic fibrosis. The main treatments rely on respiratory physical therapy, antibiotics and gastroprotected pancrease extracts.
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PMID:[Mucoviscidosis: in children and adults]. 756 75

We had already made a report on outcome of schizophrenia (1986). The patients, 129 typical schizophrenia, were continuously observed over 30 years in the Kawagoe Dojinkai Hospital. Recently, we again evaluated their prognoses according to the same criteria as adopted in the first report, and divided them into the following five groups. [symbol: see text]: completely remitted group (21 persons, 16.3%), [symbol: see text]: almost remitted cases now holding jobs (23 persons, 17.8%), [symbol: see text]: Slightly remitted group showing good adjustment at home or hospital (41 persons, 31.8%), [symbol: see text]: maladjusted cases always showing an unfavorable condition (25 persons, 19.4%), x : incurable cases (19 persons, 14.7%). 1) In the last 8 years, there were 30 persons (23.3% of the whole patients) who showed prognostic changes (10 persons improved, 20 persons worsen). While the second group ([symbol: see text]) has seen fewer persons (12 persons down) than previous study, the third group ([symbol: see text]) has seen more persons (9 persons up). Each three groups, that is, the first two groups ([symbol: see text] + [symbol: see text], 44 persons, 34.1%), the third group ([symbol: see text], 41 persons, 31.8%), and the forth and fifth groups ([symbol: see text] + x, 44 persons, 34.1%) accounted for a third of the whole patients. It is after 32 years on the average (extending from 21 to 50 years) from the onset of illness that they showed prognostic changes. 2) Generally speaking, catatonic patients had favorable prognoses, hebephrenic patients unfavorable ones, and paranoid patients medium ones. But 4 improved persons in the forth and fifth groups were all hebephrenic type. 3) 17 among the 30 persons who showed prognostic changes were unstable type. They took a wave-like course. 4) 27 of all the 129 patients were dead. 25 were dead from disease mentioned below. Malignancy (8 persons), Cerebral vascular disease, Pneumonia and Diabetes (3 persons), Heart-failure (2 persons), Ileus, Myocardial infarction, Hepato-cirrhosis, Gastric ulcer, Tuberculosis and Natural death (1 person). 2 persons committed suicide. 5) Outcome of 45 patients who discontinued our medical therapy became clear as follows. [symbol: see text] + [symbol: see text]: 18 persons (40.0%), [symbol: see text]: 9 persons (20.0%), [symbol: see text] + x : 18 persons (40.0%). A smaller percentage of the patients belongs to the third group ([symbol: see text]) than that of our patients who were continuously followed by us.
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PMID:[Outcome of schizophrenia--extended observation (more than 30 years) of 129 typical schizophrenic cases [III]]. 773 53

Results of the application of apparatus AKA-2 for the formation of compressive anastomoses under complicated conditions are discussed. Among them are: acute and chronic ileus, peritonitis, diabetes mellitus etc. Common negative factors for all the patients were symptoms of secondary immune deficiency and specific endogenous intoxication resulting from chronic internal irradiation by radionuclides (consequences of the disaster in Chernobyl atomic power station in 1986). In 1987-1990 operations were performed on 84 patients. Compressive colonic anastomoses were made with apparatus AKA-2. All the patients lived in Kiev and neighbouring regions from 1986. From the patients operated upon 81% had colorectal cancer localized in left portions of the colon, 19% of the patients had inflammatory diseases of the colon. The application of compressive colonic anastomoses under the complicated conditions proved to be sufficiently reliable in the nearest and late terms of observations.
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PMID:[Compression anastomoses of the large intestine under complicated conditions]. 809 92

Different mutations in the cystic fibrosis (CF) gene appear to contribute to heterogeneity of the CF phenotype. We investigated 15 patients with CF who have the 3849 + 10 kb C-->T mutation. All were Ashkenazi Jews. Their clinical features were compared with those of CF patients with the delta F508/delta F508, W1282X/W1282X, W1282X/delta F508 mutations, which are known to be associated with a severe disease. Patients with the 3849 + 10 kb mutation were older, had been diagnosed as having CF at a more advanced age, and were in a better nutritional state. Sweat chloride values were normal (below 60 mmol/L) in 5 3849 + 10 kb patients (33%). 4 of these patients and 6 others (total 66%) had normal pancreatic function. However, age-adjusted pulmonary function did not differ between the two groups. None of the patients with 3849 + 10 kb C-->T had had meconium ileus or had liver disease or diabetes mellitus. We conclude that this mutation is associated with a mild type of CF.
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PMID:Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation. 810 Feb 93

The case of a 60-year-old woman with diabetes mellitus type II and primary hypothyroidism, who presented a clinical picture compatible with intestinal obstruction is reported. An abdominal sonogram revealed acute calculous cholecystitis and ileus. A plain film of the abdomen showed dilatation of small bowel loops. She underwent celiotomy, once stabilized, and gallstone ileus+cholecystoduodenal fistula were diagnosed intraoperatively. Resection of the ischemic segment of distal jejunum and the stone, cholecystectomy and primary repair of the fistula were performed. In spite of the systemic complications (metabolic, cardiovascular and pulmonary), that appeared postoperatively, the patient had a favorable outcome. This patient had an acute calculous cholecystitis and a spontaneous biliary-enteric fistula with intestinal obstruction, without previous symptoms of biliary tract disease preceding the episode of bowel obstruction.
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PMID:[Asymptomatic cholecystoduodenal fistula in a patient with diabetes mellitus and primary hypothyroidism: report of a case]. 829 19

Laparoscopic colectomy has been associated with a shorter postoperative ileus when compared to open colectomy, although the mechanism is unclear. This study is designed to evaluate gastric emptying following open colectomies (OC) versus laparoscopic-aided colectomies (LAC) using serial serum acetaminophen levels (ACE), which correlate with gastric emptying. The study groups were limited to patients undergoing either right or left colectomy who received general anesthetic. Patients with diabetes mellitus or other colon resections were excluded. Postoperative analgesia was provided with intramuscular ketorolac and opioids for breakthrough pain. Patients received 500 mg ACE at 24 and 48 hours postoperatively, and ACE levels were measured 5, 10, 20, 30, 45, 60, 90, and 120 minutes following ingestion. The OC and LAC groups were matched in terms of operation performed. There were multiple carcinomas in the OC group, and none in the LAC group. Normal control values were also obtained for ACE absorption curves. Of all the time intervals tested at both 24 and 48 hours, there was only a single time interval (30 minutes at the 48-hour testing interval) in which there was a significant difference between the OC and LAC groups. In both the OC and LAC groups, there were multiple time intervals when the ACE levels were significantly different when compared to controls. The results indicate no significant difference in gastric emptying as measured by acetaminophen absorption in postoperative colectomy patients. Therefore, although laparoscopic patients have a clinically shorter postoperative ileus, the mechanism for this reduction appears unrelated to gastric emptying.
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PMID:Prospective comparison of gastric emptying after laparoscopic-aided colectomy versus open colectomy. 865 58

Alpha-glucosidase inhibitor can suppress postprandial hyperglycemia by delaying the absorption of carbohydrates in the intestine, and may be useful in obese patients with non-insulin-dependent diabetes mellitus (NIDDM) and preserved insulin secretion. We encountered an obese elderly patient with NIDDM in whom gait disturbance had developed after cerebral hemorrhage and who suffered from ileus after treatment with voglibose. The patient had received voglibose which is reported to cause fewer abdominal symptoms than acarbose, for 15 days. The patient, a 63-year-old woman, was given a diagnosis of NIDDM in February 1995, and was treated with a sulfonylurea agent. However, her glycemic control remained poor and she was admitted to our hospital in April 1995. Her body mass index was 30.5 kg/m2 and laboratory investigation revealed a fasting plasma glucose level of 211 mg/dl, a postprandial (2 h) plasma glucose level of 288 mg/dl, HbAlc of 9.9%, a fasting insulin level of 9 microU/ml, urinary C-peptide excretion of 95.7 micrograms/ day, and an coefficient of variation of R-R value of 2.1%. Fifteen days after glibenclamide was replaced by to voglibose, abdominal pain, nausea, constipation, and ausculatory sounds of gurgling developed, and niveau were noted on an abdominal roentgenogram which indicated that simple ileus had developed. Voglibose was discontinued and the patient was treated with an enema and hot air. She recovered from simple ileus on the next day. This patient had had two abdominal surgeries and a cerebral hemorrhage, and her daily physical activities were limited, which might have contributed to ileus. In elderly patients with NIDDM, a history of abdominal surgery and the amount of daily exercise must be considered when deciding whether or not to give alpha-glucosidase inhibitors.
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PMID:[Occurrence of ileus after voglibose treatment in an elderly diabetic patient with gait disturbance caused by cerebral hemorrhage]. 892

The object of this study was to assess the outcome of laparoscopic colorectal surgery in patients >60 years of age and compare it to a younger group of patients who underwent similar procedures. All consecutive patients who underwent a laparoscopic or laparoscopic-assisted procedure were evaluated. The parameters analyzed included gender, indication for surgery, procedure, complications, conversions, length of ileus, length of hospitalization, and comorbidity. The results of patients 60 years of age or older were compared to a procedure-matched group of younger patients. Between August 1991 and August 1995, 165 patients underwent a laparoscopic or laparoscopic-assisted colorectal procedure. Thirty-six patients were 60 years of age or older [mean age, 73 (60-88) years; 17 males and 19 females] and were compared with 36 younger patients [mean age, 44 (20-58) years; 13 males and 23 females]. The indications for surgery included Crohn's disease in 14 patients, polyps in 23, diverticular disease in 15, carcinoma in 11, fecal incontinence in 4, rectal prolapse in 2, radiation proctitis in 2, and sigmoidocele in 1. Identical procedures were performed in each group including right colectomy or ileocolic resection in 17 patients, sigmoidectomy in 14, loop ileostomy in 3, loop colostomy in 1, and abdominoperineal resection in 1 patient. Fourteen patients (38%) in the elderly group had comorbid conditions including ischemic heart disease (3), chronic obstructive pulmonary disease (3), hypertension (2), chronic renal failure (2), atherosclerotic vascular disease (2), congestive heart failure (1), and diabetes (1). All patients were cleared for surgery by their respective specialists. There were no statistically significant differences between the younger and older groups relative to the incidence of complications (11 vs 14%, respectively) and conversion (8 vs 11%, respectively) or the length of ileus (2.8 vs 4.2 days, respectively) or hospitalization (5.2 vs 6.5 days, respectively) (P = NS for all). There was no mortality in either group. The outcome of laparoscopic colorectal surgery in older patients is similar to that noted in younger patients. Advanced age should not be a contraindication to laparoscopic colorectal surgery.
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PMID:Outcome of laparoscopic colorectal surgery in older patients. 895 49


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