1/19. Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome.BACKGROUND: The triple A syndrome is characterized by the main features adrenal insufficiency, achalasia and alacrima. Other organ systems can be involved in a variable manner. PATIENT: We report clinical and novel molecular findings in a 6.8-year-old Kurdish boy, who presented with relapsing vomiting and failure to thrive. He was diagnosed as having achalasia and primary adrenocortical hypofunction. history and clinical examination showed that the boy was unable to produce tears. In addition, a large number of associated neurological and dermatological features was present in this patient. Thus, the clinical diagnosis of triple A syndrome was made. RESULTS: Initial molecular marker analysis supported linkage to the triple A critical region on chromosome 12q13. Further, a homozygous G -->A transition in exon 9 of the newly identified AAAS gene, resulting in a stop codon (W295X) and predicting a truncated protein with loss of function, confirmed the diagnosis. This new mutation was also detected in another family of Kurdish origin. In turned out that both families were related.- - - - - - - - - - ranking = 1keywords = tea (Clic here for more details about this article) |
2/19. Pathways of extrapelvic spread of disease: Anatomic-radiologic correlation.Extrapelvic spread of disease, particularly from gastrointestinal tract perforations which may be clinically occult, may first present in the buttock, hip, thigh, and even lower leg, and the extraperitoneal space of the abdomen itself. Clinical manifestations at these remote sites may be very misleading. Anatomic and roentgenologic observations establish the preferential pathways of extrapelvic spread. These are related to the insertions and fascial investments of the iliopsoas, pyriformis, and obturator internus muscles and the ensheathed penetrations of the superior gluteal arteries. Superiorly, extension from the pelvic tissues seeks out the posterior pararenal compartment of the extraperitoneal region of the abdomen. Roentgenologic signs may first identify the presence, extent, and localization of the primary process.- - - - - - - - - - ranking = 1keywords = tea (Clic here for more details about this article) |
3/19. Upper gastrointestinal endoscopic ultrasound and its impact on patient management: 1990-2000.BACKGROUND: Endoscopic ultrasound (EUS) is a relatively new method used in the investigation and staging of upper gastrointestinal tract (UGIT) disease. AIMS: To review practice and outcomes of EUS in an Australian university teaching hospital. methods: The first part of the study was a retrospective review of indications, safety, referral patterns and technical difficulties of all EUS procedures performed at Concord Hospital, new south wales, australia, over a 10-year period from 1990 to 2000. The second part of the study examined the impact of EUS on the management of 225 consecutive cases, as determined by a questionnaire completed by each of the referring doctors. RESULTS: A total of 537 EUS examinations was performed over the 10-year period. Indications for EUS included: (i) assessment of oesophageal lesions (241), (ii) assessment of gastric lesions (184) and (iii) assessment of pancreaticobiliary (112) disease. Cancer staging was performed in 46.7% of oesophageal and 31.4% of gastric cases. Sedation was achieved using intravenous midazolam (5.3 /-1.3 mg; mean /- SD) and 52% of cases required additional intravenous pethidine (48.5 /-10.0 mg; mean /- SD). Technical difficulties were encountered in 11% of cases and these were mainly related to nontraversable luminal stricturing. Of the 537 referrals, 48.2% were from within Central Sydney Area health services, and the remainder were from other Sydney hospitals, new south wales regional centres and interstate. Of 225 questionnaires sent to referring doctors, 146 questionnaires were completed and returned for analysis. EUS aided staging of malignant disease, and confirmed or established a diagnosis in 86% of cases. The diagnostic accuracy of EUS was 76% when confirmed histologically. EUS avoided further diagnostic investigations in the majority of cases and in 25% of cases surgery was avoided. Fine-needle aspiration biopsy (FNAB) during EUS would have been useful in 30% of cases. overall, clinical decision-making and management were changed in one-third of cases. CONCLUSIONS: Endoscopic ultrasound is an accurate, safe and useful imaging method in UGIT disease. The increasing demand for EUS and EUS-guided FNAB suggests an expanding future for EUS in australia.- - - - - - - - - - ranking = 1keywords = tea (Clic here for more details about this article) |
4/19. Shrinkage of a primary thyrotropin-secreting pituitary adenoma treated with the long-acting somatostatin analogue octreotide (SMS 201-995).The long-acting somatostatin agonist octreotide can control TSH hypersecretion from most thyrotropic adenomas. octreotide therapy has even been shown to improve chiasmal dysfunction. We report another patient in whom octreotide therapy was associated with gradual suppression of TSH hypersecretion, which escaped partially, dramatic and very rapid and sustained improvement of chiasm compression, and dramatic and sustained shrinkage of an unresectable TSH-secreting pituitary tumour. Unusual and prolonged gastrointestinal adverse reactions eventually disappeared except for steatorrhea. In conclusion, octreotide may be considered as first line treatment in patients with unresectable thyrotropic adenomas.- - - - - - - - - - ranking = 1keywords = tea (Clic here for more details about this article) |
5/19. lasers in gastroenterology.The laser nurse is an integral part of the gastroenterologic endoscopy team. A keen awareness of laser instrumentation, delivery systems, endoscopy equipment, gastroenterologic conditions, perioperative endoscopy protocols, and patient monitoring are needed to provide safe and effective laser intervention. The success of gastroenterologic laser use is being realized as new applications begin to replace conventional methods of treatment.- - - - - - - - - - ranking = 1keywords = tea (Clic here for more details about this article) |
6/19. The idiopathic hypereosinophilic syndrome. Clinical, electrophysiological and histological study of a case.A case of idiopathic hypereosinophilic syndrome (HES) is reported. The disease started at the age of 31, with polyneuropathic-like symptoms and disorders of the gastrointestinal tract. Hypereosinophilia and leukocytosis were observed. Instrumental investigation of the digestive tract showed esophagitis, a peptic ulceration, signs of chronic rectocolitis. Charcot-Leyden crystals were present in feces. peripheral nervous system changes were seen with EMG and nerve conduction studies. Muscle biopsy findings were in agreement with the electrophysiological data and showed inflammatory abnormalities. Qualitative histology and teased nerve fiber studies of sural nerve indicated axonal degeneration. Protein substances derived from eosinophils degranulation may account for the disturbances observed in various systems and organs.- - - - - - - - - - ranking = 1keywords = tea (Clic here for more details about this article) |
7/19. role of a long-acting somatostatin analogue (SMS 201-995) in the treatment of acromegaly.The beneficial effect of the long-acting analogue of somatostatin SMS 201-995 in the treatment of acromegaly is described in three cases, and current published experience is reviewed. A total of 64 patients from 10 series have received the drug from one to 25 months, usually in doses of 50-150 micrograms every eight hours by subcutaneous injection. Clinical and chemical improvement was observed in the majority of subjects but normal 24-hour serum growth hormone levels were achieved in no more than 35 percent of this group and possibly less. We have found that higher doses, up to 1,500 micrograms per day, which have generally been free of side effects, are sometimes required to normalize growth hormone secretion. A reduction of up to 33 percent in pituitary tumor size has been reported in more than half of the 27 cases studied from four groups. Clinically important side effects are infrequent, but diarrhea, usually transient, occurred in about 13 percent, with frank steatorrhea in 2 to 6 percent of cases. Alteration in carbohydrate metabolism, such as transient glucose intolerance at the start of therapy in non-diabetic acromegalic patients, and increased sensitivity to insulin or oral hypoglycemic agents in diabetic acromegalic patients, is common. overall, SMS 201-995 appears to be a valuable new agent for the treatment of acromegaly, but long-term safety needs to be established.- - - - - - - - - - ranking = 1keywords = tea (Clic here for more details about this article) |
8/19. A massive dose of vincristine.An esophageal cancer patient with bilateral lungs and neck lymph nodes metastases received 24 mg of vincristine instead of vinblastine because of the similarity between the two names, and survived multiorgan derangement. Serious states of central and peripheral neuropathy with muscle atrophy, gastrointestinal disorder, bone marrow suppression and mucocutaneous involvement were all encountered. Although hypotension and syndrome of inappropriate secretion of antidiuretic hormone (SIADH) were not observed as vincristine's side actions, toxicity to the myocardium, which has not been documented, was suggested in our case. These toxic impairments, however, subsided clinically within a month, except for paresthesia in the peripheral extremities. The effectiveness of the chemotherapy was remarkable against both the esophageal cancer and the metastatic lesions. No unintentional overdose of a drug, needless to say, should happen, and in order to minimize its possibility, it would be advisable for chemotherapy to be administered only by an experienced physician who is able to check the dose and concentration.- - - - - - - - - - ranking = 1keywords = tea (Clic here for more details about this article) |
9/19. The protean gastrointestinal manifestations of metastatic breast carcinoma.Metastatic breast carcinoma commonly remains silent for many years following initial diagnosis and mastectomy, and then appears as metastases at various locations. Gastrointestinal involvement is not uncommon and includes any site along the whole length of the gut, the liver, and the biliary tree; it occasionally simulates other diseases and causes difficulty in diagnosis. The radiographic features and differential diagnoses are discussed.- - - - - - - - - - ranking = 4keywords = tea (Clic here for more details about this article) |
10/19. Diagnostic cues in gastroenterology.Twenty seven gastroenterologists (15 physicians and 12 surgeons) were studied to capture their policy in the usage and weighting of cues in making a diagnosis. This was a relatively small sample and on account of possible sampling bias only tentative generalisations will be made. Five case vignettes, each consisting of four to eight cues, were used. Subjects were asked to give their percentage likelihood estimates of various diagnostic possibilities after each cue. This gave an indication of their perception of the significance of various cues in relationship to each diagnosis. There were marked variations in cue weighting by these experts, and in particular, most individuals were far off the mean regarding the weighting of certain clinical features, thus displaying idiosyncratic behaviour in these instances. As may be expected, there were differences in disease prevalence estimates between physicians and surgeons. Early information had an overwhelming effect on the final diagnosis. In most cases the expert relied on a few critical cues rather than on a pattern to make a diagnosis. In view of the strong influences of early diagnostic formulations, these findings confirm the need for doctors to learn to use and collect accurate factual information on prevalence rates and on the most significant critical cues for various disease processes. The study highlights some of the problems faced by novices in learning from experts who may teach them contradictory information about what are the most significant factors in coming to a diagnosis.- - - - - - - - - - ranking = 1keywords = tea (Clic here for more details about this article) |
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