Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Severe hemorrhagic diathesis caused by hemophilia A (factor VIII:C deficiency) was diagnosed in 2 related Quarter Horse colts. Clinical signs consisted of dyspnea and dysphagia attributable to cranial cervical hematoma in one colt and to intra-abdominal hemorrhage resulting in death of the second colt. Factor VIII:C deficiency, a defect of the intrinsic coagulation pathway, is suggested by results of coagulation studies--prolonged activated partial thromboplastin time, normal prothrombin time, and normal primary bleeding time. The diagnosis was confirmed by results of factor VIII:C assays. Hemophilia A is inherited as an X chromosome-linked trait.
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PMID:Hemophilia A in two related quarter horse colts. 313 24

The effects of a liquid elemental diet on nine patients requiring nasogastric tube feeding because of severe dysphagia were studied. A casein based feeding served as a control. The elemental diet was given over a 12-week period except in the case of one man who expired after nine weeks from causes unrelated to the diet.The feeding was well tolerated by the digestive tract. Satisfactory nutrition appeared to be maintained as indicated by weight gain, stable hemoglobin, serum total protein and albumin values, and normal healing of pressure sores. BUN levels decreased significantly. Uric acid levels increased but remained within normal limits. Pancreatic function was unaffected clinically and from the postmortem findings of the man who died, pancreatic morphology was normal. Fasting blood sugars, serum electrolytes, hematocrit, bleeding, clotting and prothrombin times, and platelet counts were normal.
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PMID:Effects of long-term elemental nasogastric feeding on elderly debilitated patients. 463 90

Esophageal stricture is a major secondary complication of ingesting caustic agents. We examined our experiences with caustic injuries with a view to finding clinical and biological risk factors of esophageal strictures secondary to caustic ingestion. Records were retrieved for 58 adults admitted consecutively to our intensive care unit for caustic ingestion. Fifty cases were managed conservatively and therefore retained for analyses. Patients were grouped according to whether they developed strictures or not during the follow-up period. Mucosal damage was assessed by emergency endoscopy. Eleven patients (22%) developed a stricture. At referral, dysphagia, epigastric pain, and hematemesis were associated with secondary stricture (respectively P = 0.047, P = 0.008, P = 0.02). A high Zargar endoscopic grade (above IIa; P = 0.02), the ingestion of strong acids or alkalis (P = 0.006), hyperleukocytosis (P = 0.02), and a low prothrombin ratio (P = 0.002) were associated with a higher risk of developing a stricture. The median delay of stricture diagnosis was 12 (8;16) days after ingestion, with extreme values from 4 to 26 days. Initial symptoms such as dysphagia or hematemesis, early endoscopy showing >IIa grade esophagitis, and certain laboratory results should draw the physician's attention to a high risk of esophageal stricture.
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PMID:Risk factors for symptomatic esophageal stricture after caustic ingestion-a retrospective cohort study. 2920 3

Background: Plummer-Vinson syndrome (PVS), a rare disorder characterized by dysphagia, iron deficiency anemia, and esophageal webs, has principally been described in middle-aged women. This disorder is uncommon in the 21st century because of the abundance of iron-fortified foods. Clotting factor deficiencies are also rare. Factor VII deficiency is a bleeding disorder characterized by the absence of a critical protein in the coagulation cascade. Case Report: We present a case of PVS associated with factor VII deficiency in a 26-year-old African American female. The patient had a history of anemia that was repeatedly attributed to menstrual bleeding and dysphagia for 10 years. She presented with symptomatic anemia requiring transfusion. She reported a history of food getting stuck in her chest, and workup revealed esophageal webs with no evidence of overt luminal gastrointestinal bleeding. Coagulation laboratory tests revealed the incidental finding of a borderline increased prothrombin time. Hematologic studies confirmed the presence of factor VII deficiency. Conclusion: To our knowledge, no case has been published about a patient diagnosed with PVS and concomitant factor VII deficiency. Our case illustrates several learning points: (1) PVS is an uncommon disorder that may still be diagnosed in a developed country in the 21st century; (2) PVS requires close follow-up and esophageal surveillance because of the increased risk of esophageal cancer; (3) factor VII exhibits a high degree of phenotypic variability; (4) phenotype in factor VII deficiency does not always correlate with factor VII activity, although life-threatening spontaneous bleeding is not expected with levels >2%.
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PMID:Plummer-Vinson Syndrome With Concomitant Factor VII Deficiency. 3152 44