Gene/Protein Disease Symptom Drug Enzyme Compound
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 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Inflammatory bowel disease (IBD) is a group of chronic intestinal inflammatory diseases that consists of ulcerative colitis (UC), an inflammation of the large intestine, and Crohn's disease (CD), which can affect any part of the gastrointestinal tract. IBD affects approximately 1 in every 1000 individuals in western countries. There is a marked tendency in the age of onset toward gradually younger people. IBD represents a genuine problem in public health because of the absence of etiologic treatment. The clinical image is characterized by recurrent segmental or total inflammatory involvement of the large and/or small intestine, often resulting in a chronic, unpredictable course. The symptoms of both are extremely unpleasant and impact all aspects of quality of life. They include diarrhea, abdominal pain, rectal bleeding, fever, nausea, weight loss, lethargy, and loss of appetite. If left untreated, malnutrition, dehydration, and anemia follow, which, in extreme cases, can even lead to death. Although many patients are managed successfully with conventional medical therapy, such as anti-inflammatory corticosteroid treatment, some stay refractory to treatment, most will have recurrent activity of disease, and two thirds will require surgery. Administered orally or by injection, only a fraction of the active components of most conventional drugs reaches the intended target site, the inflamed intestinal lining. This is not only an inefficient way to deliver drugs, but, more important, means that patients are often subject to a spectrum of unpleasant side effects that result from the high levels of the drugs in other, otherwise healthy tissues and organs of the body.
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PMID:Lactococcus lactis, a tool for the delivery of therapeutic proteins treatment of IBD. 1280 77

A 65-year-old woman with end-stage renal disease (ESRD) presented with bloody ascites. She had been maintained on peritoneal dialysis (PD) for 7 years and had eight episodes of peritonitis. She was eventually transferred to hemodialysis (HD) because of ultrafiltration failure. This was associated with "high" peritoneal transport by peritoneal equilibration test (PET). A period of "peritoneal rest" did not improve PET results. Within a year of transfer to HD, ascites developed, which was hemorrhagic upon evaluation. A computed tomography (CT) scan suggested encapsulating sclerosing peritonitis, which was confirmed upon peritonoscopy. The patient was treated with prednisone and tamoxifen. Encapsulating peritoneal sclerosis (EPS) is a devastating complication of PD. Although it is rare and its development often unpredictable, this case demonstrates several clinical features commonly observed in the condition. These include more than 6 years on PD, a high transporter status, recurrent peritonitis, and the development of blood-stained dialysis effluent (or ascites if PD has been discontinued, as was the case in this patient). The initial presentation is often incipient with vague abdominal pain. Symptoms are progressive, however, and EPS has a high mortality rate, with most patients dying within 1 year of diagnosis, usually from malnutrition and sepsis. Treatment options include systemic immunosuppression and regular peritoneal irrigation after transfer to HD. Response to treatment is more likely to occur in the early inflammatory stage of EPS, when symptoms are nonspecific and imaging is relatively normal. Hence a high degree of suspicion for the diagnosis should be present in patients "at risk" of this condition, as early diagnosis is essential if progressive encapsulation of the abdominal viscera is to be prevented.
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PMID:Bloody ascites in a patient after transfer from peritoneal dialysis to hemodialysis. 1296 97

Gastroparesis is characterized by delayed gastric emptying in the absence of obstruction. Common symptoms include nausea, vomiting, and abdominal pain. Severe gastroparesis might result in recurrent hospitalizations, malnutrition, and significant mortality. Patients failing medical therapy are often considered for a variety of surgical interventions, the efficacy of which is not well studied. This review summarizes available literature on surgical interventions in gastroparesis. A MEDLINE search for the period from 1966 to 2002 was performed to identify all English language literature regarding surgical interventions in gastroparesis. Therapies reviewed were gastrostomy, jejunostomy, gastric pacing/stimulation, and gastrectomy or surgical drainage procedures. Candidate studies involved human subjects and included surgical series or trials. The search was conducted independently by two authors and discrepancies resolved by consensus opinion. Seventeen articles met inclusion criteria. These included series reporting on gastrostomy (2), jejunostomy (3), gastric stimulation (2), and gastrectomy for postsurgical (6), diabetic (3), and idiopathic (1) gastroparesis. All trials were unblinded, uncontrolled case series or retrospective reviews. Methodologic differences did not allow for pooled analysis. Completion gastrectomy seems to provide symptom relief in postsurgical gastroparesis. Benefits of gastric surgery for other forms of gastroparesis are not adequately studied. Gastrostomy might provide symptom improvement, but only 26 subjects in two trials were evaluable. Jejunostomy improved symptoms and nutrition in 32 evaluable subjects in three trials but had significant complications. Gastric neurostimulation improves symptoms of nausea and vomiting, but therapeutic gain beyond placebo has not been demonstrated. Limited data exist concerning surgical therapies of gastroparesis. Completion gastrectomy seems effective for postsurgical gastroparesis, but a cautious approach is warranted before surgical therapies in diabetic or idiopathic gastroparesis are used.
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PMID:A systematic review of surgical therapy for gastroparesis. 1457 55

OBJECTIVE: To describe an unusual case with clinical features of the antiphospholipid syndrome. DESCRIPTION: White child, two years and six months old, with renal failure, renal arterial thrombosis, and diagnosis of antiphospholipid syndrome was hospitalized with a history of abdominal pain, pallor, lethargy, and anuria for 36 hours. On physical examination, the patient showed malnutrition, high blood pressure, moderate edema, and hypochondrial pain. Laboratory findings included: urea=112mg/dl, serum creatinine= 4.5 mg/dl, blood pH= 7.47, blood bicarbonate= 12.8 mmol/L, K=7.2 mEq/L. Peritoneal dialysis was started and maintained for 11 days. After 7 weeks, the patient still needed anti-hypertensive drugs and the renal function was still abnormal. Renal biopsy was performed and revealed renal infarction. The result of Doppler ultrasonography revealed absent renal blood flow on the right side. Renal arteriography showed total occlusion of the right renal artery. Results for collagen diseases were negative. A right nephrectomy was performed and the blood pressure was controlled. The child was hospitalized again at 5 years and 8 months old with episodes of absence seizures and abdominal and precordial pain. Anticardiolipin antibody test was positive. The child is now 7 years old, asymptomatic, with negative anticardiolipin antibody, and has been under regular follow-up. COMMENTS: Children with arterial thrombosis should be investigated for a possible association with the antiphospholipid antibody syndrome even in the absence of collagen disease.
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PMID:[Renal arterial thrombosis and the antiphospholipid antibody syndrome: a case report] 1464 33

Delayed gastrojejunocolic fistulas in patients previously operated for gastric cancer are often caused by local recurrence of the tumour. We present two cases of delayed gastrojejunocolic fistula without neoplastic recurrence. Both patients had been operated for adenocarcinoma several months earlier; a gastric Billroth 2 resection was performed in both cases. The first patient arrived at our hospital for chest pain, dyspepsia, weight loss, vomiting and diarrhoea. Blood tests showed low levels of vitamin B, proteins and cholesterol. The second patient was admitted for lipothymia, hyporexia, proctorrhagia, diarrhoea and weight loss. Blood tests showed macrocytic anaemia and hypoproteinaemia. The radiological and endoscopic examinations revealed a gastrojejunocolic fistula in both cases. Since gastrojejunocolic fistulas are rarely resolved by conservative treatment, we performed a gastric resection with a histological examination to exclude tumour recurrence in both patients. The aetiopathogenesis of gastrojejunocolic fistulas is unknown. It is conceivable that some agents (such as bile) may damage a mucosa that has been weakened by nutritional deficiency and/or postsurgical microvascular damage. Early and delayed gastrojejunocolic fistulas present the same clinical manifestations, namely, diarrhoea, abdominal pain, weight loss and hypoproteinaemia.
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PMID:[Benign gastrojejunocolic fistula as a complication of gastric resection for adenocarcinoma]. 1472 37

5000 pediatric patients presenting gastrointestinal disturbance (diarrhoea, vomiting, abdominal pain or stypsis) coming from different urban and rural area of Naples (Italy) were evaluated for possible intestinal Giardiasis at the Department of Pediatrician, University of Naples, Italy. The mean age of the patients was 6.4 years and range 0.5-15 years. Giardia duodenalis was searched in 3 different specimens of stools collected every other day, by a microscopic examination by Stoll method. The presence of Giardia duodenalis was correlated with different parameters: life-style, social environment, social level, season, geographic area and subjective symptoms. Statistical differences in the different groups of patients were evaluated by the chi square test. Giardia duodenalis was found in 237/5000 patients (4.7%) of the patients. In nine of them the protozoa was associated with E. vermicularis and in 8 with T. thichiuria e the highest monthly prevalence was observed in November an December. The most frequent symptom was diarrhoea (61.1%). According to these data the Authors can conclude that Giardiasis is a frequent gastrointestinal infection even in children living in temperate areas. This infection is frequently asymptomatic, but can lead to malabsorption and/or to malnutrition, and can be cause of orticaria.
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PMID:[Giardia duodenalis infections in pediatrics: our series]. 1496 70

Hereditary angioedema (HAE), a rare but life-threatening condition, manifests as acute attacks of facial, laryngeal, genital, or peripheral swelling or abdominal pain secondary to intra-abdominal edema. Resulting from mutations affecting C1 esterase inhibitor (C1-INH), inhibitor of the first complement system component, attacks are not histamine-mediated and do not respond to antihistamines or corticosteroids. Low awareness and resemblance to other disorders often delay diagnosis; despite availability of C1-INH replacement in some countries, no approved, safe acute attack therapy exists in the United States. The biennial C1 Esterase Inhibitor Deficiency Workshops resulted from a European initiative for better knowledge and treatment of HAE and related diseases. This supplement contains work presented at the third workshop and expanded content toward a definitive picture of angioedema in the absence of allergy. Most notably, it includes cumulative genetic investigations; multinational laboratory diagnosis recommendations; current pathogenesis hypotheses; suggested prophylaxis and acute attack treatment, including home treatment; future treatment options; and analysis of patient subpopulations, including pediatric patients and patients whose angioedema worsened during pregnancy or hormone administration. Causes and management of acquired angioedema and a new type of angioedema with normal C1-INH are also discussed. Collaborative patient and physician efforts, crucial in rare diseases, are emphasized. This supplement seeks to raise awareness and aid diagnosis of HAE, optimize treatment for all patients, and provide a platform for further research in this rare, partially understood disorder.
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PMID:Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. 1535 35

Whipple's disease is a rare chronic infectious disorder first described in 1907 by G.H. Whipple. The disorder is caused by the newly identified bacterium Tropheryma whipplei and there is evidence that altered immune functions play a role in the manifestation of the disease. The organ systems mostly affected are the joints and the gut, and in the further course often also the heart, lung, brain, and eyes. The intestinal involvement occurs with abdominal pain and diarrhea, which leads to weight loss, malnutrition, and anemia. In some cases the infection spreads to the central nervous system, which may lead to loss of memory, confusion, or disturbances in gait. In the last few years, several steps towards an improved diagnosis of the disease and characterization of the causative bacterium have been made. While untreated disease may be lethal, treatment is often able to eradicate the organism. At present, therapy is based on observations in small patient groups and personal experience. There are different antibiotic therapy regimens often starting with intravenous application for 2 weeks followed by oral medication for 1 year. The first clinical therapy study is ongoing.
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PMID:Progress, problems, and perspectives in diagnosis and treatment of Whipple's disease. 1559 84

Tropical pancreatitis is a special type of chronic pancreatitis that is seen mainly in tropical countries. The prevalence of tropical pancreatitis is about 126/100,000 population in southern India. It occurs usually in young people, involves the main pancreatic duct and results in large ductal calculi. The etiology is not known, but genetic mutations such as the SPINK1 gene mutation and environmental factors are likely causes. Clinically, >90% of patients present with abdominal pain. About 25% of patients develop diabetes which generally requires insulin for its control but is ketosis-resistant. Painless diabetes is another clinical presentation in some patients. Most patients develop malnutrition during the course of the disease. Steatorrhea is less common. Patients with tropical pancreatitis may develop pancreatic cancer as a long-term complication. The diagnosis can be established by plain radiography of the abdomen, ultrasonography, computerized tomography scan of the abdomen or endoscopic retrograde cholangiopancreatography. Management is directed towards relief from pain and control of diabetes and steatorrhea. Pain relief can be obtained by analgesics and enzyme supplementation with preparations rich in proteases. Endotherapy coupled with stone fragmentation by extracorporeal shock wave lithotripsy is an effective therapy for those who fail to respond to medical therapy. Surgical decompression of the main pancreatic duct by lateral pancreato-jejunostomy is reserved for patients with severe pain non-responsive to other forms of therapy.
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PMID:Tropical pancreatitis. 1575 8

The purpose of this case report is to detail an initial periodontal manifestation of Crohn's disease in a 6-year-old boy. The first clinical diagnosis, localized aggressive periodontitis, was based on the microbiological isolation of Actinobacillus actinomycetemcomitans from subgingival sites. On examination, gingival lesions, together with bleeding on probing, edema, and erythema, were observed. Although an increased probing depth was detected, no radiographically visible alveolar bone loss was observed. According to these findings, periodontitis as a manifestation of a systemic disease was assumed. Furthermore, fissural ulcerations of the lips were noted. The patient also reported a swelling of the upper lip in the morning. Oral hygiene procedures, scaling, root planning, and the application of metronidazole and amoxicillin were not successful. Metabolic and several immunological tests, however, showed normal values. Two months after the first periodontal signs, the child suffered from severe malnutrition, accompanied by diarrhaea and abdominal pain. Active colitis with multiple granulomas was detected histopathologically from biopsies. Crohn's disease was then diagnosed by the internist. If in doubt, medical examinations in every case of childhood periodontitis are recommended to determine whether the findings speak for initial symptoms of a systemic disorder (eg, Crohn's disease).
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PMID:Periodontitis as manifestation of Crohn's disease in primary dentition: a case report. 1587 51


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