123rc/medical_text huggingface dataset:
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. The fragile-X syndrome is the most frequent inherited form of mental retardation, with an incidence of 1 in 1,500 males. It is characterized by the presence of a fragile site at Xq27.3 induced in vitro by folate deprivation or by inhibitors of deoxynucleotide synthesis. Its mode of inheritance is unusual for an X-linked trait, with incomplete penetrance in both males and females. Some phenotypically normal males transmit the mutation to all their daughters who rarely express any symptoms, but penetrance is high in sons and daughters of these carrier women. Genetic and physical mapping of the Xq27-q28 region has confirmed that the disease locus is located at or very near the fragile site. Hypotheses proposed to account for the abnormalities in the inheritance of the disease include sequence rearrangements by meiotic recombination or a mutation that affects reactivation of an inactive X chromosome during differentiation of female germ cells. To detect such rearrangements, or methylation changes that may reflect a locally inactive X chromosome, we used pulsed-field gel analysis of DNA from fragile-X patients with probes close to the fragile-X locus. The probe Do33 (DXS465) detected abnormal patterns in fragile-X patients, but not in normal controls or in non-expressing male transmitters.
Cerebral infarction in patients with nephrotic syndrome. We describe two adult patients who presented with acute cerebral infarction and were found to have a hypercoagulable state due to nephrotic syndrome. One patient had a deficiency of free protein-S. The other patient had a pulmonary embolus 4 months after the stroke. Our cases demonstrate that the hypercoagulable state associated with nephrotic syndrome can be associated with cerebral arterial thrombosis and infarction in adults. Examination of the urine remains an important part of the evaluation of patients with recent stroke. The presence of severe proteinuria and a low serum albumin content should prompt consideration of a hypercoagulable state. Our experience suggests that anticoagulant drugs may be required to reduce the risk of new thrombotic events.
Current status of organ preservation with University of Wisconsin solution. A retrospective analysis of all organs that were preserved with University of Wisconsin solution was undertaken to assess the impact of this solution on early allograft function. From May 1987 until June 1990, 181 livers, 92 pancreata, and 92 kidneys were preserved with University of Wisconsin solution for extended periods of time. The mean (+/- SD) preservation times were as follows: liver, 12.6 +/- 4.5 hours; pancreas, 16.7 +/- 4.4 hours; and kidney, 18.3 +/- 4.3 hours. The overall rate of primary nonfunction and hepatic artery thrombosis were 6.1% and 3.9%, respectively. No differences in the rates of primary nonfunction and hepatic artery thrombosis were noted for combined liver-pancreas procurement vs isolated liver retrievals or when reduced-size liver transplants were compared with nonreduced liver transplants. Likewise, no difference in primary nonfunction or hepatic artery thrombosis was seen in livers that were preserved for less than 6, 6 to 12, and greater than 12 hours. However, serum aminotransferase levels and prothrombin times were lower on the first postoperative day in livers that were preserved for less than 6 hours when compared with 6 to 12 or greater than 12 hours. Early pancreatic allograft function was also excellent for up to 24 hours of cold-storage preservation. All patients were immediately insulin independent, and there were no cases of initial nonfunction or graft pancreatitis. There were only two cases (2.2%) of pancreatic vascular thrombosis in this series. No difference in pancreatic function was noted for organs that were preserved for less than 6, 6 to 12, or greater than 12 hours. Likewise, renal allograft function was excellent, with only two patients (2.2%) requiring postoperative hemodialysis. The actuarial 1-month patient survival for liver and pancreas-kidney transplant recipients was 91.5% and 98.9%, respectively. Actuarial 1-month allograft survival for liver, pancreas, and kidney transplants was 83.0%, 96.7%, and 97.8%, respectively. In conclusion, University of Wisconsin solution represents a significant advancement in cold-storage organ preservation and is ideally suited as a universal intra-abdominal aortic-flush and cold-storage solution.
Cereal-based oral rehydration therapy. I. Clinical studies. Studies of "improved" oral rehydration solutions, in which glucose polymers (starch) derived from rice or other cereals were added to improve cotransport of sodium and to promote sodium and water absorption, have been reported. These solutions were administered to decrease diarrhea volume and duration, reduce vomiting, and replace volume loss in stools. In clinical trials of children and adults with high-output diarrhea, such as in cases of cholera, the use of cereal-based oral rehydration solutions (ORS) compared with glucose-based ORS produced significant (20% to 53%) reductions in stool volumes. In one study the duration of diarrhea was shortened by 30%. In noncholera diarrhea in children, cereal-based ORS was as effective as glucose-based ORS. Although the amino acid transport systems were intact in patients with cholera, the addition of glycine to glucose-based or rice-based ORS did not reduce stool volume or duration of diarrhea. The exception was alanine, which reduced stool output and ORS requirements. More research is needed to determine the optimal mix of starch, amino acids, oligopeptides, and proteins that would utilize the absorptive active transport systems maximally to reduce fluid losses and duration of diarrhea.
Diagnostic utility of flumazenil in coma with suspected poisoning: a double blind, randomised controlled study OBJECTIVE--To assess the diagnostic value and safety of the benzodiazepine antagonist flumazenil in patients with coma of unclear origin with suspected poisoning. DESIGN--Double blind, placebo controlled, randomised study. SETTING--Intensive care unit at a major teaching hospital. PATIENTS--105 Unconscious adults admitted consecutively with suspected drug overdosage during 18 months from a total of 362 cases of poisoning. Exclusion criteria were pregnancy, epilepsy, obvious poisoning with drugs identified unequivocally from information from relatives or others as other than benzodiazepines, and coma score greater than 10 on a scale graded from 4 to 20. Patients were allocated randomly to receive flumazenil (21 men and 32 women) or placebo (25 men and 27 women). INTERVENTIONS--Intravenous injection of flumazenil (10 ml, 0.1 mg/ml) or placebo (10 ml vehicle alone) given double blind over three minutes. MAIN OUTCOME MEASURES--Serum and urine concentrations of benzodiazepines, antidepressants, and several other agents; blood gas tensions; standardised evaluation on admission and five minutes after the injection by means of coma scale score and urgent diagnostic or therapeutic interventions indicated according to the history and clinical examination; standardised interview after the injection to try to ascertain further information; and adverse reactions. RESULTS--Benzodiazepines were found in the serum in 36 of the 53 patients in the flumazenil group and in 37 of the 52 who received placebo. The average coma scale score increased significantly after injection in the flumazenil group (6.4 v 12.1, p less than 0.001) but not in the placebo group. In the flumazenil group several interventions were rendered unnecessary by the injection: gastric lavage and urinary catheterisation (19 patients each), intubation (21), artificial ventilation and computed tomography of the brain (three patients each), blood culture and lumbar puncture (one patient each), and electroencephalography (two). In the placebo group the indications for these procedures did not change in any patient after injection. The 95% confidence interval for the difference in reduction of the frequency of indications for gastric lavage after injection between the two groups was 21% to 51%, that for intubation 25% to 55%, and that for urinary catheterisation 21% to 51%. In the flumazenil group 21 patients gave valuable information on their drug ingestion within 10 minutes after injection compared with only one in the placebo group (p less than 0.001). Nine adverse reactions were recorded in the flumazenil group, eight of which were graded as mild and one severe. The safety of the antagonist was acceptable, even though 60% of the patients in the flumazenil group had multiple drug poisoning including benzodiazepine. No epileptic seizures or arrhythmias were recorded. CONCLUSION--Flumazenil is a valuable and safe differential diagnostic tool in unclear cases of multiple drug poisoning.
Dilated cardiomyopathy associated with Chlamydia trachomatis infection. A 26-year-old man was admitted to hospital with acute myocarditis complicated by congestive heart failure, and atrial and ventricular arrhythmias. Detailed investigations to determine the aetiological factors involved yielded negative results, except for serological evidence of infection with Chlamydia trachomatis. During the follow-up period, dilated cardiomyopathy developed. To the best of our knowledge a similar case has not been reported previously.
Obesity and vaginal hysterectomy. A retrospective study was done of 471 consecutive vaginal hysterectomies done in a three-year period. Three groups of patients--239 normal to 9% overweight, 132 10-24% overweight and 100 greater than or equal to 25% overweight--were compared. Surgical difficulties were similar in all three groups. The more obese patient had a slightly greater incidence of febrile morbidity, stayed one day longer in the hospital and had a minimally greater loss of hemoglobin 48 hours postoperatively. However, obesity per se caused few problems during and after vaginal hysterectomy. The vaginal approach is the procedure of choice for hysterectomy in obese women.
Diurnal differences in response to oral levodopa. Diurnal differences in duration and quality of motor response to levodopa are frequently described by patients. The quality and duration of motor responses were objectively assessed to morning and afternoon oral levodopa doses in five patients with Parkinsonian motor fluctuations who complained of diurnal variation in response to their normal levodopa medication. Results suggest that under controlled conditions which eliminated the effects of diet and overlapping levodopa effects the response to levodopa remained unchanged throughout the day, and that the duration of response could be predicted by plasma levodopa levels.
Transcranial Doppler in acute hemispheric brain infarction. We studied cerebrovascular anatomy using intra-arterial digital angiography, and blood flow velocity in the middle cerebral artery (MCA) using transcranial Doppler (TCD) ultrasonography in 42 patients with acute hemispheric ischemic brain infarction. We compared angiography with TCD and the clinical findings within 6 hours of the onset of symptoms. The location and extent of the chronic ischemic brain damage was assessed by CT performed 1 to 3 months after the ictus. Abnormal TCD, as manifested by either an unobtainable MCA flow signal or a significantly depressed MCA flow velocity, was highly associated with proximal MCA occlusions demonstrated by angiography. Abnormal TCD predicted both larger chronic CT lesions and more extensive ischemic change within the MCA territory. These data demonstrate that early TCD conveys useful information concerning cerebral tissue prognosis following hemispheric ischemia.
Retinal vasculitis--a primer. Retinal vasculitis is a diagnosis that is generally suggested by an ophthalmologist. Frequently patients with the disorder are referred to nonophthalmologists for further diagnostic evaluation or treatment. The criteria for defining vasculitis differ greatly between ophthalmologists and other physicians. To facilitate collaboration between ophthalmologists and their colleagues, we have sought to clarify the term "retinal vasculitis" by discussing its subcategories, the potential role of antiphospholipid antibodies, and the etiology of retinal vasculitis. We offer guidelines for evaluating the disorder and treating patients.
A signet-ring cell carcinoma of the ampulla of Vater. We describe a variant of carcinoma of the ampulla of Vater, which, to our knowledge, has not been previously described. Classic signet-ring cells represented the predominant cell type, and were admixed with more poorly differentiated tumor cells that were chromogranin positive. These findings raise the possibility of an amphicrine tumor of the ampulla.
Endogenous vasopressin supports blood pressure and prevents severe hypotension during epidural anesthesia in conscious dogs. To evaluate whether, and to what extent, release of endogenous vasopressin supports blood pressure when efferent sympathetic drive is blocked by epidural anesthesia, the authors studied the effects of high epidural anesthesia alone and when vasopressin was prevented from acting at its vascular (V1)-receptor in six awake, trained, unsedated dogs. On different days, the same dose of 0.5% bupivacaine (8-13 ml) was injected epidurally in a randomized fashion either in the presence or absence of (V1)-vasopressin receptor blockade, and the effects were evaluated on cardiovascular (arterial blood pressure, heart rate) and respiratory (blood gases, oxygen consumption) variables, and on plasma concentrations of vasopressin and renin. Results were also contrasted to those obtained after epidural injection of saline alone (placebo) in the same dogs. When endogenous vasopressin was prevented from acting by intravenous pretreatment with a specific V1-receptor antagonist (beta-mercapto-beta, beta-cyclopenta-methylene-propionyl-O-Me-Tyr-Arg-Vasopressin), epidural anesthesia resulted in a rapid and sustained 35% decrease in mean arterial blood pressure from 92 mmHg +/- 5 SE to 60 mmHg +/- 4. In contrast, only a 14% decrease in mean blood pressure from 92 mmHg +/- 5 to 79 mm Hg +/- 6 was noted after epidural anesthesia alone. This difference between groups was statistically significant (P = 0.0001). The V1-receptor blockade alone had no detectable effect. Vasopressin plasma concentrations significantly increased from 3.4 +/- 0.3 pg.ml-1 to 16.2 +/- 3.2 pg.ml-1 after epidural anesthesia but did not change after epidural saline.
Amyloidosis of the small intestine: findings on double-contrast radiographs. The appearance of the small intestinal mucosa on double-contrast barium examinations was studied in 26 patients with proved intestinal amyloidosis. Findings included innumerable fine granular densities 1-3 mm in diameter (16 patients), multiple nodular densities 3-4 mm in diameter (four patients), multiple polypoid protrusions 4-10 mm in diameter (three patients), irregularities of Kerckring folds (12 patients), and multiple erosions (eight patients). The multiple nodular densities and erosions disappeared after the patients were treated with total parenteral nutrition. The other abnormalities remained unchanged on follow-up examinations. Our results indicate that double-contrast radiographic findings of the small intestine in patients with amyloidosis include mucosal abnormalities that vary according to the pathologic type of amyloid deposition.
Early results of combined electrohydraulic shock-wave lithotripsy and oral litholytic therapy of gallbladder stones at the University of Iowa. One hundred thirty-three patients were entered into a randomized, double-blind, placebo-controlled trial of extracorporeal shock-wave lithotripsy for symptomatic gallstones versus extracorporeal shock-wave lithotripsy plus adjuvant litholytic therapy with ursodeoxycholic acid (UDCA). Six months after lithotripsy, patients receiving placebo were crossed over to UDCA therapy without unblinding the study. One hundred sixteen patients have completed 6 months of follow-up. Five patients were dropped from the study. Nine percent have required cholecystectomy (11 patients with biliary colic and 1 with acute cholecystitis). Ninety-one patients had a solitary stone (64 patients had stones less than or equal to 20 mm and 27 patients had stones greater than 20 mm in diameter), and 25 patients had two to three stones. Fifty percent were retreated. Cumulative stone-free rates at 6, 12, and 18 months were 26%, 39%, and 41%, respectively. At 6 months there was a significant advantage for patients treated with UDCA versus placebo (36% vs 17% were stone free) that had disappeared by 12 months (placebo-treated patients had received 6 months of UDCA). Patients with solitary stones equal to or less than 20 mm in diameter treated with UDCA had stone-free rates at 6, 12, and 18 months of 58%, 58%, and 62%, respectively, versus 27%, 56%, and 50%. The difference was significant only at the 6- month follow-up. Stone-free rates for patients with large solitary stones and multiple stones were very low. Extracorporeal shock-wave lithotripsy is both safe and effective therapy for treatment of symptomatic gallstones in patients with a solitary stone equal to or less than 20 mm in diameter. UDCA markedly improves the efficiency of the procedure and results in a stone-free gallbladder sooner.
Cerebrospinal fluid immune complexes in patients exposed to Borrelia burgdorferi: detection of Borrelia-specific and -nonspecific complexes. We analyzed cerebrospinal fluid (CSF) from 32 patients with neurological symptoms and evidence of Borrelia burgdorferi infection (29 were seropositive as determined by enzyme-linked immunosorbent assay, 2 were cell-mediated immune positive, and 1 had been seropositive as shown by enzyme-linked immunosorbent assay 9 months previously). CSF immune complexes were found in 22 (69%) of 32 patients; in 18, there was sufficient sample to isolate immune complexes. By enzyme-linked immunosorbent assay, isolated immune complexes from 10 of these 18 patients contained antibody specific for B. burgdorferi antigens. The isotypes were IgG (n = 8), IgM (n = 3), and IgA (n = 2). By immunoblot, these antibodies were directed against B. burgdorferi 41-kDa antigen and occasionally against the 33- and 17-kDa antigens. Anti-B. burgdorferi IgM was present in patients with acute neurological symptoms, was predominantly complexed rather than free, and decreased with clinical recovery in the one serial study. Three patients were nonreactive for free CSF antibodies, but had complexed antibodies to the organism. The preliminary finding of specific B. burgdorferi components in immune complexes in CSF suggests an active process triggered by the organism, even in the absence of other CSF abnormalities.
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13. Molecular linkage analysis was performed on a kindred with X-linked sideroblastic anemia and ataxia. Two-point analysis with a DNA probe for phosphoglycerate kinase (PGK1), which maps to Xq13, suggested linkage to the disorder by a lod score of at least 2.60 at a recombination fraction of zero. The disease in this kindred appears to be clinically and genetically distinct from that in previously reported families with X-linked hereditary ataxia or spastic paraparesis. No mapping data are available for inherited X-linked sideroblastic anemia without neurologic abnormalities. However, structural alterations of band Xq13 may be involved in the development of idiopathic acquired sideroblastic anemia. No alterations in the restriction patterns of two X-linked genes involved in erythrocyte formation-i.e., a DNA-binding protein (GF-1) and 5-aminolevulinate synthase (ALAS)-were detected in DNA from affected males, arguing against a large deletion in either of these candidate genes.
Management of primary nonrenal parenchymal malignancies with vena caval thrombus. We report our experience with the management of 7 primary nonrenal parenchymal malignancies with vena caval tumor thrombus. Included are 3 cases of adrenal cortical carcinoma and 1 each of transitional cell carcinoma, embryonal cell testicular carcinoma, pheochromocytoma and primary small cell carcinoma of the lung with metastases to the kidney. Surgical treatment and followup are presented, as well as a review of the literature. An aggressive surgical approach is warranted because prolonged survivals free of disease are possible.
Incidence of polymyositis-dermatomyositis: a 20-year study of hospital diagnosed cases in Allegheny County, PA 1963-1982. The incidence of hospital diagnosed polymyositis-dermatomyositis (PM-DM) among residents of Pittsburgh and Allegheny County, PA was determined from 1963 to 1982. Medical records of all Allegheny County hospitals were searched for patients diagnosed PM-DM, and each accepted case was reviewed and verified by a physician, according to specified criteria. Direct age adjusted incidence rates were computed for race and sex, as new cases/million population/year, with the 1970 Allegheny County population as the standard. One hundred seventy-seven cases were identified during this 20-year survey for a total annual incidence of 5.5/million population. Incidence more than tripled during 1973-1982 compared to the first decade of study, with the greatest increase occurring in black women. Overall, the female to male incidence ratio was 2.2:1, but during the childbearing years (ages 15-44) this ratio increased to greater than 5:1 in both races. Detection of PM-DM is increasing, as shown by temporal trends. Although our series has significantly more adult PM and less DM and overlap cases than other published studies, annual incidence is similar to that reported in other locales.
Angiographic contrast media interference with laser-induced fluorescence excitation and detection in atherosclerotic human coronary arteries. Laser-induced fluorescence has been used in conjunction with angiography for laser angioplasty guidance. The effect of radiopaque contrast media on the excitation and detection of arterial fluorescence has not been previously reported. Accordingly, fluorescence emission spectra from human coronary artery necropsy specimens (n = 7) during excitation with pulsed excimer laser excitation (308 nm) was examined before and after the addition of three different contrast media, sodium and meglumine diatrizoate, sodium and meglumine ioxaglate, and iopamidol. A decrease in overall fluorescence intensity was observed at all wavelengths for each contrast agent examined. The decrease in intensity of fluorescence emission was more marked at wavelengths less than 410 nm than at wavelengths above 425 nm. Similar effects were observed for contrast media diluted with whole blood. Absorption spectra for all three contrast media demonstrated absorption in the ultraviolet centered around 240 nm. We conclude that preferential absorption in the ultraviolet range by contrast media interferes with the excitation and detection of laser-induced fluorescence; use of visible light excitation may obviate interference with laser-induced fluorescence analysis of plaque.
Renal scintigraphy in the diagnosis and surgical management of a patient with caliceal colic: a case report. A patient with persistent renal colic and a caliceal stone is presented. Furosemide renography, commonly used to differentiate functional stasis from mechanical obstruction of an entire kidney or duplicated collecting system, can make this determination at the caliceal level. As in this case such determination can affect clinical management of the patient.