Melricflash/CW_MedAbstractsAlt huggingface dataset:
Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease. Von Hippel Lindau disease (VHL) is a hereditary syndrome, associated with tumors and cysts in multiple organ systems, whose expression and age of onset are highly variable. The availability of a genetic test for the early and reliable detection of individuals carrying the defective gene would be beneficial for VHL patients and their relatives, since many of the manifestations of VHL can be successfully treated if detected in their early stages, while the complications of undetected disease can be devastating. We have previously shown that the VHL gene maps to chromosome 3p. To provide genetic markers for the development of a reliable diagnostic test, and to further narrow and eventually clone the VHL defect, we have generated DNA markers for chromosome 3p. With these markers, we have performed a multipoint genetic linkage analysis in 28 VHL pedigrees, comprising 470 individuals, 164 of whom were affected with VHL. Here we report the identification of tightly linked markers, including flanking markers that bracket the VHL gene to a small region on chromosome 3p25-p26. This finding has several major implications. While visceral cysts of the kidney, pancreas, and epididymis are commonly found in VHL and are considered diagnostic criteria for this disorder, they also occur in the general population. The presence of cysts, unaccompanied by other more typical lesions such as retinal and cerebellar hemangioblastoma, may therefore represent a major diagnostic problem, leading to errors in the assessment of disease status. The application of flanking markers for the VHL gene for presymptomatic diagnostic testing confirms that epididymal cysts are indeed not suitable as a diagnostic criterion in this disorder. Pheochromocytomas occur nonuniformly in VHL families and may also be associated with other hereditary tumor syndromes; our genetic studies imply that the phenotype in VHL families with and without pheochromocytomas is caused by defects within the same gene. The absence or presence of this tumor type is therefore due to the pleiotropic expression of a single gene rather than to the existence of several different genes for VHL. The region on chromosome 3p13-p14 known to contain several chromosomal translocation breakpoints in families with "pure familial renal cell carcinoma" is quite proximal to the VHL locus in 3p25-p26 we have identified. Chromosome 3p may therefore contain two loci for renal cell carcinoma: one gene (or genes) in 3p13-p14 and the VHL gene in 3p25-p26, whose aberration is also associated with other typical manifestations of VHL.(ABSTRACT TRUNCATED AT 400 WORDS). 

Category: nervous system diseases
Native valve endocarditis due to Pseudallescheria boydii in a patient with AIDS: case report and review. A 53-year-old man with AIDS developed mitral valve endocarditis due to infection with the fungus Pseudallescheria boydii. A limited number of cases of prosthetic valve endocarditis caused by this organism have been described. We report a unique case of pseudallescheria infection of a native valve and describe this disease in a patient with AIDS. 

Category: cardiovascular diseases
Pneumocystis carinii pneumonia associated with profound lymphopenia and abnormal T-lymphocyte subset ratios during treatment for early-stage breast carcinoma. Two women with Stage II breast carcinoma treated with lumpectomy followed by breast irradiation and adjuvant chemotherapy developed Pneumocystis carinii pneumonia while receiving cytotoxic chemotherapy. Neither woman had evidence of immunosuppression before therapy. They both had profound lymphopenia, reversed CD4/CD8 ratios, and normal peripheral blood total leukocyte counts at the time of their infections. Both women were seronegative for human immunodeficiency virus type 1 and had no risk factors for such an infection. The patients' CD4 lymphocyte counts increased after chemotherapy for breast carcinoma was discontinued. Thus, it appears that the therapy they received may have caused severe T-lymphocyte mediated immunosuppression. 

Category: neoplasms
Rehabilitation of the pediatric patient with a neuromuscular disease. A rehabilitation program for a patient with a neuromuscular disease can be developed only after an accurate diagnosis has been established. The diagnosis and its ramifications should suggest a natural course of disease which, it is hoped, can be improved upon with a rational and realistic program. The program is best developed by an interdisciplinary team, including a pediatric neurologist, who should have the greatest understanding of the patient's problem and should ultimately be responsible for the implementation and monitoring of the program. A child with cerebral palsy commonly requires the services of physical and occupational therapists as well as knowledgeable orthopedists. Is the program appropriate? Does it consider the child's potential as well as his limitations? A child with a traumatic brain injury requires, in addition to the above, psychological intervention and an intensive educational program. Will the child and family need help from mental health professionals? A child with a motor unit disease such as Duchenne's muscular dystrophy requires, in addition to the above services, a "philosophy" of care. Will the child ever ambulate independently? If so, at what cost? What will be necessary for the child to reach this potential, including items such as orthoses and adaptive equipment? Will respirator care become necessary? What issues must be addressed for this form of care to be established? There is no one program for all children. The programs must be individualized to meet the needs of the patient and the family. This point cannot be overemphasized. 

Category: nervous system diseases
Biliary sludge: a critical update. Biliary sludge has been for many years a poorly defined entity, usually with low amplitude, nonshadowing echoes within the most dependent part of the gallbladder, which shift under the influence of postural changes. From a sonographic point of view, the detection of sludge implies the coexistence of small-sized, solid components and of a gel-like embedding material. The chemical nature of biliary sludge has recently been recognized to be predominantly composed of a coaggregate of cholesterol monohydrate crystals and liquid crystalline droplets, and in some cases, such as obstructive jaundice or symptomatic liver diseases, by bilirubin granules, all embedded in a gel matrix of mucous glycoproteins. From a pathogenic point of view, biliary sludge is often associated with biliary stasis, or with conditions characterized by impaired gallbladder contraction, such as prolonged total parenteral nutrition, fasting, and pregnancy. Other causes include mucus hypersecretion, which may favor cholesterol nucleation and crystal growth, and bile infection. Sludge may be an intermediate step in the formation of different types of stones. From an epidemiological point of view, sludge is quite rare in the asymptomatic, free-living population, but may be common in selected series of symptomatic patients. From a clinical point of view, sludge often has a fluctuating course, including frequent disappearances and reappearances, suggesting that the early stages of gallstone formation are reversible. 

Category: digestive system diseases
Antivenom therapy in Russell's viper bite. Bleeding and renal failure are the two main manifestations responsible for the high morbidity and mortality in untreated Russell's viper bite victims. This study was an effort to find prognostic factors and a practical therapeutic approach for the care of such patients. Early detection of abnormalities in the clot quality test and/or evidence of systemic bleeding followed by immediate correction of the clotting defects using specific antivenom can reduce morbidity in Russell's viper envenomation. 

Category: nervous system diseases
Computed tomography staging of the paranasal sinuses in chronic hyperplastic rhinosinusitis. In this study, the computed tomography scans of 100 patients with chronic hyperplastic rhinosinusitis were reviewed to establish a clinical staging system. Fourteen percent of the patients were classified as Stage I (single-focus disease); 36% as Stage II (multifocal disease responsive to conservative therapy); 32% as Stage III (diffuse disease partially responsive to medication); and 16% as Stage IV (diffuse disease associated with bony changes and poorly responsive to conservative treatment). The incidence of recurrent or persistent disease ranged from 13% for Stage II to 30% for Stage IV. Stage I and III patients had 13% and 18% recurrence rates, respectively. Computed tomography staging is shown to be useful in outlining operative strategies and is a reliable prognosticator of the disease process. 

Category: general pathological conditions
Primary CT diagnosis of abdominal masses in a PACS environment Whether the display medium--film versus cathode ray tube (CRT)--affects observer performance during interpretation of computed tomographic (CT) images is an important research issue in these times of implementation and growth of picture archiving and communications systems in radiology. The authors performed a multiobserver receiver operating characteristic (ROC) study to determine the performance of radiologists who read abdominal CT studies displayed on film, as well as on a high-resolution workstation (video monitor) that made use of three different display modes. A total of 166 examinations were evaluated by eight radiologists, who recorded their ordinal confidence ratings of the demonstration of presence or absence of abdominal masses. ROC analysis showed small differences in the confidence ratings assigned by individual readers for the detection and interpretation tasks. Results for the group as a whole showed no significant reduction or improvement in observer performance when ratings for any one of the workstation display modes were analyzed. The results of this study demonstrate that current CRT display technology is adequate for enabling the primary detection of abdominal masses with CT examinations. 

Category: neoplasms
Multiple myeloma: VMCP/VBAP alternating combination chemotherapy is not superior to melphalan and prednisone even in high-risk patients. The efficacy of alternating vincristine, melphalan (M), cyclophosphamide, prednisone/vincristine, carmustine, doxorubicin, and prednisone (VMCP/VBAP) polychemotherapy was compared with the M and prednisone (MP) regimen as induction treatment in multiple myeloma (MM). Three hundred four MM patients entered this study between March 1983 and July 1986; the analysis was performed in December 1989. The treatment groups did not show significant differences with respect to major prognostic factors. Median overall survival was 33.8 months. In the VMCP/VBAP and MP arms, after 12 induction chemotherapy cycles, 59.0% and 47.3% (P less than .068) of the patients achieved an M component reduction greater than 50%. No significant difference was observed in the two treatment arms in terms of remission duration (21.3 v 19.6 months, P less than .66) and survival (31.6 v 37.0 months, P less than .28). Patients younger than 65 years did not show any advantage from the alternating polychemotherapy. At diagnosis, the plasma cell labeling index (LI) and serum beta-2 microglobulin (beta 2-m) were evaluated in 173 and 183 patients, respectively. A significantly reduced survival was observed for patients with LI greater than or equal to 2% (16.4 months) or beta 2-m greater than or equal to 6 mg/L (20.4 months). Even in these poor-risk subgroups, VMCP/VBAP was not superior to MP. 

Category: neoplasms
Relationship between blood plasma prostaglandin E2 and liver and lung metastases in colorectal cancer. The relationship of prostaglandin E2, of which a large amount is produced in various neoplasms, and hematogenous distant metastases was investigated in a total of 44 colorectal cancer patients because of its varied pathophysiologic potentials. The authors found significantly high levels of PGE2 in local venous blood draining the carcinoma and in peripheral blood in cases with liver or lung metastasis, as well as a significantly large amount of PGE2 production in the carcinoma tissue. The results suggest that increased local blood PGE2 could enhance the metastasis formation, and increased peripheral blood PGE2 may be useful in the detection of such metastasis in colorectal cancer. 

Category: neoplasms
Prognostic factors of hepatocellular carcinoma in the west: a multivariate analysis in 206 patients. To investigate the prognostic factors in Western patients with hepatocellular carcinoma, 206 patients with confirmed diagnoses of hepatocellular carcinoma were studied in terms of survival. All patients were diagnosed between 1983 and 1987. A multivariate survival analysis (Cox regression model) using clinical, biochemical, ultrasonographical and pathological data obtained at diagnosis disclosed that bilirubin (p = 0.0001), ascites (p = 0.0001), toxic syndrome (defined by the presence of weight loss greater than 10% premorbid weight, malaise and anorexia) (p = 0.009), blood urea nitrogen (p = 0.025), tumor size (p = 0.001), gamma-glutamyltranspeptidase (p = 0.0006), age (p = 0.0005), serum sodium (p = 0.003) and presence of metastases (p = 0.002) were independent predictors of survival. According to the contribution of each of these factors to the final model, a prognostic index was constructed allowing division of patients in different groups according to their relative risk of death: RRD = EXP (Age x 0.03 + Ascites x 0.8281 + BUN x 0.0137 + Serum sodium x (-0.0538) + gamma-Glutamyltranspeptidase x 0.0019 + Bilirubin x 0.0734 + Tumor size x 0.33 + Toxic syndrome x 0.4965 + Metastases x 0.55). These results facilitate the stratification of hepatocellular carcinoma patients to design and evaluate future controlled trials. 

Category: neoplasms
Cheilitis granulomatosa: report of six cases and review of the literature. Six cases of cheilitis granulomatosa, a rare inflammatory disorder of unknown origin, are reported. The condition produces nontender, persistent swelling of one or both lips and affects primarily young adults. Histologically, nonnecrotizing granulomatous inflammation is seen. The clinical findings and results of therapy in these six cases are presented. One patient was treated with hydroxychloroquine sulfate (Plaquenil) that stabilized the process. One of our patients had vesicular-appearing lesions. Microscopic examination showed the lesions to be dilated superficial lymphatic channels, a finding that to our knowledge has not been previously described. 

Category: general pathological conditions
Predicting radionuclide bone scan findings in patients with newly diagnosed, untreated prostate cancer: prostate specific antigen is superior to all other clinical parameters. Presently, the standard staging evaluation of prostate cancer includes digital rectal examination, measurement of serum tumor markers and a radionuclide bone scan. To evaluate the ability of local clinical stage, tumor grade, serum acid phosphatase, serum prostatic acid phosphatase (PAP) and serum prostate specific antigen (PSA) to predict bone scan findings, a retrospective review of 521 randomly chosen patients (mean age 70 years, range 44 to 92 years) with newly diagnosed, untreated prostate cancer was performed. Local clinical stage, tumor grade, acid phosphatase, PAP and PSA all correlated positively with bone scan findings (p less than 0.0001). Using receiver operating characteristic curves, however, PSA had the best over-all correlation with bone scan results. The median serum PSA concentration in patients with a positive bone scan was 158.0 ng./ml., whereas men with a negative bone scan had a median serum PSA level of 11.3 ng./ml. (p less than 0.0001). Using multivariate logistic regression analysis, local clinical stage, tumor grade, acid phosphatase and PAP were evaluated in combination with PSA to assess whether these parameters increased the ability of PSA alone to predict bone scan findings. None of these clinical parameters, irrespective of the combination used, contributed appreciably to the predictive power of PSA alone. A probability plot with 95% confidence intervals was constructed that allows the practicing urologist to estimate on an individual basis the probability of a positive bone scan for any given serum PSA value. The most significant finding of this study, however, was the negative predictive value of a low serum PSA concentration for bone scan findings. In 306 men with a serum PSA level of 20 ng./ml. or less only 1 (PSA 18.2 ng./ml.) had a positive bone scan (negative predictive value 99.7%). This finding would suggest that a staging radionuclide bone scan in a previously untreated prostate cancer patient with a low serum PSA concentration may not be necessary. 

Category: neoplasms
Vaginal epithelial abnormalities in patients with CIN: clinical and pathological features and management. Of 4147 women who had CIN treated by laser at the Regional Gynaecological Oncology Centre, Queen Elizabeth Hospital, Gateshead, 103 (2.5%) had co-existing vaginal epithelial abnormalities. CIN 3 was the histological diagnosis most often associated with vaginal lesions. The upper vagina was almost always involved. In 67% the lesion in the cervix appeared to be confluent with that in the vagina. Even when the lesions were confluent, biopsies form the cervical and vaginal components did not always show the same grade of intraepithelial neoplasia and in some biopsies they showed different lesions. Laser treatment appears to be effective for the vaginal lesions and is therefore recommended although, in selected patients, careful follow up alone may suffice. 

Category: neoplasms
Progress report of the Stroke Prevention in Atrial Fibrillation Study. The Stroke Prevention in Atrial Fibrillation Study recently found and reported (SPAF Investigators, N Engl J Med, 1990;322:863-868) a beneficial effect of both warfarin and aspirin compared with placebo in the primary prevention of ischemic stroke and systemic embolism in patients with nonvalvular atrial fibrillation. Among warfarin-eligible patients, the event rates were 1.6%/yr for those receiving active antithrombotic therapy (warfarin or aspirin) and 8.3%/yr for those receiving placebo (p less than 0.00005) (risk reduction 81%, 95% confidence interval 56-91). Ironically, we did not find a beneficial effect of aspirin in warfarin-ineligible patients. On the basis of these results, the study has been reshaped to directly compare these two antithrombotic agents. Insight into the apparent aspirin unresponsiveness noted in some patients also is being sought. Interpretation of the preliminary results and the reshaping of the study have been made more complex by the continued blinding of the investigators to certain portions of the data. Presented is an account of the study from its inception through its recent redesign. 

Category: nervous system diseases
Regional obesity and risk of cardiovascular disease; the Framingham Study. Risk of cardiovascular events was determined over 24 years of surveillance in relation to general adiposity reflected by relative weight and by regional obesity estimated by skinfolds and waist girth per inch of height. Upper quintile values of relative weight, subscapular skinfolds and waist girth were each associated with increased risks of cardiovascular disease in both sexes. Risk of total cardiovascular events increased with the degree of regional, central or abdominal obesity. Mortality from cardiovascular disease was also increased. Increased relative weight and central obesity were both associated with increased risk factors including cholesterol, blood pressure, glucose and uric acid. Changes in weight were mirrored by changes in risk factors with linear trends over a 15 lb range of weight fluctuations. Subscapular skinfold and the ratio of subscapular-to-triceps skinfold, measures of central obesity, were in either sex also associated with an increased probability of coronary attacks in particular. The subscapular skinfold contributed to CHD risk independent of body mass index (BMI). Multivariate analyses taking all the risk factors into account indicate an independent effect of abdominal obesity on stroke, cardiac failure and cardiovascular and all-cause mortality in men. In women, only the subscapular-to-triceps skinfold ratio independently contributes to CHD, cardiovascular and all cause mortality. Regional obesity appears to be an independent contributor to cardiovascular disease at a given level of general adiposity, its effect only partially mediated through promotion of other known risk factors. These data suggest that cardiovascular disease is as closely linked to abdominal as to general adiposity. 

Category: cardiovascular diseases
Cardioprotective effects of authentic nitric oxide in myocardial ischemia with reperfusion. BACKGROUND AND METHODS: The purpose of this study was to determine the effects of nitric oxide (NO), believed to be endothelium-derived relaxing factor on reperfusion injury after myocardial ischemia (MI). The effects of NO were investigated in a 6-hr model of MI with reperfusion in open-chest, anesthetized cats. A solution containing NO was infused iv starting 30 min after occlusion of the left anterior descending coronary artery, continuing through reperfusion 1 hr later, and lasting for 5.5 hr. Estimated NO concentration in the circulation was 1 to 2 x 10(-9) M. RESULTS: The areas-at-risk expressed as a percentage of the total left ventricular weights were not significantly different among either of the MI groups. However, the necrotic area (expressed as a percentage of the myocardial area-at-risk) was significantly (p less than .01) lower in the NO-treated MI cats compared with the MI + vehicle group. Cardiac myeloperoxidase activities indicated that significantly (p less than .05) fewer neutrophils were attracted to the necrotic zone of the NO-treated MI cats when compared with MI cats receiving only the vehicle. Sodium nitrate (NaNO2) (pH 7.4), a major breakdown product of NO, failed to exert any protective effect in this same model of MI and reperfusion. CONCLUSIONS: NO appears to provide significant myocardial protection after ischemia and reperfusion. NO may afford cardioprotection by incorporation into circulating blood cells (i.e., neutrophils, platelets), thereby inhibiting their accumulation and adherence in the ischemic region, or by a direct cardiac cytoprotective effect. Further studies using NO donors rather than NO would be an appropriate clinically relevant mode of treatment in MI. 

Category: cardiovascular diseases