shukoor65/lab-rag-model huggingface dataset:
CHARGE and Joubert syndromes: are they a single disorder? A patient with the CHARGE association (Coloboma of the eye, Heart defect, Atresia of the choana, Retarded growth and development, Genital hypoplasia, and Ear anomalies or deafness) had intermittent hyperpnea and cerebellar hypoplasia; therefore, he had both the CHARGE association and Joubert syndrome. The 2 syndromes have not been previously linked. We discuss their similarities and review the literature.
Current medical management of cirrhotic ascites. The presence of ascites may indicate a number of hepatic and extra-hepatic disorders. This situation requires comprehensive evaluation to determine the underlying cause. The evaluation and management of ascites in patients with known cirrhosis is very important since this manifestation of portal hypertension has a detrimental effect on the prognosis for such patients.
Hepatic colorectal metastases: correlation of MR imaging and pathologic appearance. Results of magnetic resonance (MR) imaging examinations for 76 patients with proved colorectal metastases to the liver were retrospectively reviewed. Signal intensity and morphologic patterns of 157 lesions were scored. The morphologic patterns were correlated with the histologic material obtained at segmental hepatic resections or excisional biopsies in 33 patients. In 154 lesions (98%) colorectal metastases to the liver were found to be hyperintense on MR images acquired with a long repetition time/echo time; in 77 lesions (49%) central low-signal-intensity changes were seen. Virtually all larger lesions demonstrated areas of low signal intensity within the tumor. These areas were found to reflect histologic findings of coagulative necrosis and desmoplasia within the tumor. Peripheral hyperintense halos around central hypointense areas encompassed the growing tumor margin and variable degrees of cell necrosis. Hypointense peripheral rims, which correspond to abnormalities of surrounding hepatic parenchyma, were seen in 40 lesions (25%). This sign should not be assumed to represent the fibrous pseudocapsule of primary hepatic malignancy. No correlation between tumor grade (differentiation) and tumor morphology was observed.
Alterations of the nailfold capillary morphology associated with Raynaud phenomenon in patients with systemic lupus erythematosus. Quantitative analysis of nailfold capillary morphology was performed in age and sex matched groups of 29 patients with systemic lupus erythematosus (SLE) presenting Raynaud phenomenon (RP), 29 RP negative patients with SLE with the same duration of the disease, and 29 healthy controls. Percentages of tortuous, meandering and bushy capillaries were significantly increased in both groups of patients without influence of RP. Capillary density was lower, mean diameters of the capillary loops were higher in patients, especially when RP was present (at the venular branch in microns, mean +/- SD: controls: 15.0 +/- 2.0, RP negative patients with SLE: 17.6 +/- 3.6, RP positive patients with SLE: 20.5 +/- 6.3). In a subgroup of 13 patients with frequent Raynaud's attacks (more than 1/week), diameters were still higher (22.1 +/- 7.1, p to controls less than 0.0005; p to RP negative patients less than 0.05). In patients with SLE, the prevalence of RP seems not to be associated with the increased number of abnormal capillaries but with capillary enlargement, correlating with the frequency of attacks.
A review of 32 cases of tardive dystonia. OBJECTIVE: Tardive dystonia, historically combined with tardive dyskinesia, is now viewed as probably having a different pathophysiology, course, outcome, and treatment response than tardive dyskinesia. In addition, patients with tardive dystonia are reported to be younger, and most are men. This study evaluates characteristics of 32 patients with tardive dystonia and compares results to other reports. METHOD: Twenty-four patients had been referred for research purposes and were videotaped, while eight had been followed clinically. Two of the authors reviewed all available videotapes and clinical reports to assess the course of symptoms over time. For global ratings and ratings of affected body parts, two scales were used: the Abnormal Involuntary Movement Scale (AIMS) for tardive dyskinesia and a similar scale for tardive dystonia. The method of case finding does not provide incidence or prevalence data for tardive dystonia. RESULTS: Fifty-nine percent of the patients experienced onset of tardive dystonia symptoms within 6 years of antipsychotic drug exposure; women had a shorter exposure time. No patient had complete remission of tardive dystonia symptoms, and 22 were moderately or severely impaired when their movements were most prominent. CONCLUSIONS: While epidemiological studies of tardive dystonia have yet to be performed, these results support the observations of others that most patients with tardive dystonia are men, have a short history of exposure to antipsychotic drugs, and may initially present with blepharospasm. Tardive dystonia rarely remits completely, can cause notable disability, and may partially respond to anticholinergic agents.
The use of magnetic resonance imaging in the study of edema. A method of studying edema using magnetic resonance imaging (MRI) is presented. Three patients with lower extremity edema due to congestive heart failure were imaged with a 0.6 tesla system before and after diuresis. Edge detection algorithms were utilized to precisely outline regions of interest for quantification. Water and nonwater elements were separated within the region of interest to quantify water content. The results show that: (1) Edema can be quantified by use of MRI. (2) Subcutaneous edema is distributed along defined planes (ie, nonuniformly). (3) Increased water content is present not only in the subcutaneous tissue but also in deeper lying muscle.
Hypertension and coronary artery disease. Can the chain be broken? Hypertension is an established risk factor for all the clinical sequelae of coronary artery disease. Despite this, individual therapeutic trials of antihypertensive therapy have not demonstrated the expected reduction in coronary morbidity and mortality. This apparent failure is perhaps not surprising when one considers the multifactorial nature of coronary artery disease and the different ways in which hypertension may affect the coronary circulation. Much debate has also centered on the antihypertensive therapy used in major trials in that it may in some way prevent the reduction in coronary mortality. However, thus far no clear evidence of a harmful effect has emerged. Reducing coronary mortality in hypertensive patients is a major challenge but one that can be effectively surmounted by approaching these different factors in a concerted manner. The ultimate goal must be to prevent the development of hypertension and left ventricular hypertrophy, but until such time as that can be achieved, the early detection of hypertension is mandatory. The optimal levels of systolic and diastolic blood pressures must be established. Studies on the more recent antihypertensive agents hold promise for a more specific effect on the atherosclerotic process as well as sustained control of arterial blood pressure. In this regard, it would seem essential to develop more precise ways of quantifying atherosclerosis and thus clarifying the nature of its relation to hypertension. Finally, management of hypertension must include precise assessment of the patient's overall cardiovascular risk status and appropriate and aggressive management of all risk factors for coronary artery disease.
Leiomyosarcoma arising in atypical fibromuscular hyperplasia (phyllodes tumor) of the prostate with distant metastasis. An extremely rare neoplasm of the prostate, commonly known as phyllodes type of atypical prostatic hyperplasia, is described in a 57-year-old man. Over a 2-year period, the atypical smooth muscle component has transformed into leiomyosarcoma, and eventually metastasized to the bones and the lungs. Such an evolution has never been documented for this tumor.
Rationale for development of low-molecular-weight heparins and their clinical potential in the prevention of postoperative venous thrombosis. Interest in low-molecular-weight heparins (LMWHs) as potential antithrombotic agents was stimulated by two observations in the mid-1970s and early 1980s. The first was finding that LMWH fractions prepared from unfractionated heparin (UFH) progressively lost their ability to prolong the activated partial thromboplastin time (APTT) while retaining their ability to inhibit Factor Xa. The second was the observation that LMWHs prepared by chemical depolarization of UFH are antithrombotic in experimental animal models but produce less microvascular bleeding in experimental models for an equivalent antithrombotic effect than the UFH from which they are derived. Subsequently, it was shown that LMWHs inhibit platelet function and impair vascular permeability less than standard heparin and that LMWHs have a longer biological half-life than standard heparin. A number of LMWHs have been evaluated in clinical trials in general and orthopedic surgery and in the treatment of venous thrombosis. LMWHs are highly effective in orthopedic surgery, where they appear to be more effective than standard heparin. LMWHs have also been shown to be either as effective or more effective than UFH in preventing postoperative thrombosis following general surgery. In preliminary studies, LMWHs appear to be as effective as standard heparin in the treatment of venous thrombosis, but larger studies are required using clinically relevant outcome measures.
Cortical blindness and residual vision: is the "second" visual system in humans capable of more than rudimentary visual perception? We studied 12 patients with static cortical blindness to evaluate residual vision after destruction of area 17 and to assess the visual capacity of the subcortical "second" visual system in humans. In each case, the cause was bilateral infarction of the occipital lobes. Five patients had total blindness, and four had residual rudimentary vision (RRV), characterized by homonymous areas of light perception in the peripheral field and ability to detect moving objects. Only three patients had the ability to read; two of these had spared macular vision, and the other had spared left homonymous hemimaculae and spared temporal crescent. Neuroimaging and visual evoked potentials (VEPs) correlated with the extent of the visual dysfunction. Total destruction of area 17 bilaterally was associated with total permanent visual loss. The larger the amount of spared visual cortex, the better the vision. Positron emission tomography (PET) or single photon emission computed tomography (SPECT) demonstrated retained metabolic activity in islands of preserved area 17 in patients with some residual vision. VEPs were present in totally blind individuals. We conclude that, in humans, useful visual function is preserved only when a critical amount of area 17 is spared. The subcortical second system may participate in the generation of VEPs, but is incapable of conscious visual perception.
Estramustine binding protein in human brain-tumor tissue. Estramustine, an estradiol-17 beta and nornitrogen mustard complex, is used in the treatment of advanced prostatic carcinoma. A specific estramustine binding protein (EMBP) is important for its cytotoxic action, and the presence of EMBP has previously been demonstrated in rat and human prostatic cancer tissue. Significant levels of EMBP were detected by radioimmunoassay in human brain-tumor tissue. The EMBP concentrations (expressed as ng/mg protein) in 16 astrocytomas (mean 2.6 ng/mg, range 0.5 to 6.2 ng/mg) and seven meningiomas (mean 5.1 ng/mg, range 0.3 to 9.3 ng/mg) were significantly higher than that found in four samples of epileptic brain (mean 0.7 ng/mg, range 0.5 to 1 ng/mg) and 18 samples of normal brain (mean 0.5 ng/mg, range 0.2 to 1.0 ng/mg). The uptake, metabolism, and antiproliferative effects of the prostatic anticancer agent estramustine have been previously demonstrated in cultured glioma cells. The presence of EMBP may suggest a selective binding and effectiveness in human brain-tumor tissue.
Determination of pulse wave velocities with computerized algorithms. Careful determination of pulse wave velocity is important in the study of arterial viscoelastic properties, wave reflections, and ventricular-arterial interactions. In spite of its increasingly widespread use, there is as yet no standardized method for its determination. Most studies have manually identified the transit time of the pressure wave front as it travels over a known distance in the arterial system, but the issues of accuracy and reproducibility have not been addressed. This study was designed to investigate the efficacy of four computerized algorithms in the determination of pulse wave velocities in invasive as well as in noninvasive pressure determinations. The four methods were the identification of: (1) the point of minimum diastolic pressure, (2) the point at which the first derivative of pressure is maximum, (3) the point at which the second derivative of pressure is maximum, and (4) the point yielded by the intersection of a line tangent to the initial systolic upstroke of the pressure tracing and a horizontal line through the minimum point. High-fidelity aortic pressure recordings were obtained in 26 patients with a multi-sensor micromanometer catheter. Noninvasive brachial and radial pressure waveforms were recorded in 11 volunteers with external piezoelectric transducers. The results show that the first derivative method consistently provided results that were different from the other methods for both the invasive and noninvasive methods because of changes in the structure of the upstroke as the arterial pulse propagates distally. Although the minimum method worked well for the invasive determinations, it was erratic with the noninvasive determinations, probably because of the higher amount of noise and reflection in the latter. Among the four algorithms, the second derivative and the intersecting tangents methods worked well with both invasive and noninvasive determinations with mean variation coefficients of less than 7% and correlation coefficients between the methods of greater than 0.90 for all data. In conclusion, computerized algorithms allow accurate determination of pulse wave velocity in invasively and noninvasively measured arterial pressure waveforms.
CT of the gastrointestinal tract: principles and interpretation. The experience accumulated in daily abdominal CT scanning and CT evaluation of gastrointestinal lesions has generated helpful technical guidelines and some reliable principles of interpretation. These general principles are briefly discussed in this review, and the importance of performing a CT examination that is adequate for the detection and evaluation of gastrointestinal lesions is stressed. CT features useful in differentiating benign from malignant lesions, limitations and pitfalls in CT interpretation, overlap in the CT appearance, and classical CT features leading to specific diagnoses are described and illustrated. Although CT is established as one of the most important techniques for imaging the gastrointestinal tract, it should be used selectively and only in the context of appropriate clinical and conventional radiologic examination. CT should not be regarded as competing with, but as complementing, barium examination of the gastrointestinal tract.
Visual field defects in diabetic patients with primary open-angle glaucoma. We reviewed the automated visual field tests of 110 nondiabetic and 87 diabetic patients with primary open-angle glaucoma randomly selected from a large glaucoma practice to investigate a possible qualitative difference in the pattern of visual field defects between nondiabetic and diabetic patients with primary open-angle glaucoma. A single reviewer analyzed, in masked fashion, the visual field tests of each patient and decided whether or not visual field defects were present mainly in the inferior half of the visual field. Of the 110 nondiabetic patients, 40 (36.4%) had visual field defects located mainly in the inferior half of the visual field in one or both eyes, whereas 56 of the 87 (64.4%) diabetic patients had such defects. This difference was statistically significant (P = .0001). We believe that a vascular factor, such as that attributable to diabetes mellitus, may influence glaucomatous optic nerve damage, thus causing a difference in the pattern of visual field loss in patients with primary open-angle glaucoma.
C6 glioma-astrocytoma cell and fetal astrocyte migration into artificial basement membrane: a permissive substrate for neural tumors but not fetal astrocytes. Cortically homografted C6 glioma-astrocytoma cells both invade the rat host brain as a mass and migrate as individual cells. In contrast, fetal astrocytes derived from homografted whole pieces of fetal cortex migrate only as individual cells throughout the brain of the rat but are not capable of invasion. Our experiment explored the migratory capacity (over 7 days) of cultured purified fetal astrocytes and C6 cells after seeding 10(6) cells on a hydrated artificial basement membrane wafer (Matrigel). The artificial basement membrane wafer was not a suitable substrate for the growth of cultured fetal astrocytes. In contrast, C6 cells migrated as individual cells from the surface of the wafer into the substrate. Individual C6 cells migrated 1.8 mm in the first 4 days and then ceased migration. The C6 cells were observed at the base of a digestion tube that extended from and was open to the surface of the wafer. At 3 days, micropockets were observed to form around each C6 cell at the base of each tube. By 7 days, the majority of pockets observed were large and contained several C6 cells. These multiple cell groups appeared to be progenitors of tumor masses. These data indicate that C6 glioma-astrocytoma cells, which in vivo appear to be a model for glioblastoma multiforme, primarily migrate as individual cells through artificial basement membrane and secondarily form tumor masses. Progenitor tumor masses form by coalescence of individual C6 cell micropockets or the division of a single cell in an individual micropocket.
Liver metastases: results of percutaneous ethanol injection in 14 patients. Percutaneous ethanol injection (PEI) was performed under ultrasound (US) guidance in the outpatient department in 14 patients with 21 metastases 1.0-3.8 cm in diameter. The primary cancer was colorectal adenocarcinoma (seven patients), adenocarcinoma of the stomach (four patients), abdominal leiomyosarcoma (one patient), gastrinoma of unknown origin (one patient), and bronchial carcinoid (one patient). The indicators of therapeutic efficacy were US, computed tomography, fine-needle biopsy, and serologic markers. No complications occurred after a total of 175 treatment sessions. Complete response was obtained in 11 lesions, nine of which were less than 2 cm in diameter, and in all endocrine metastases (four lesions in two patients) with a maximum, recurrence-free follow-up of 38 months. Carcinoembryonic antigen values decreased in all patients but one for a 2-6-month period. The natural course of metastatic disease strictly limits the applicability of PEI, a local treatment. Single, metachronous, nonoperable metastasis of adenocarcinoma and endocrine metastases seem to be the only indications for PEI.
Theophylline-associated seizures with "therapeutic" or low toxic serum concentrations: risk factors for serious outcome in adults. We report 12 adults with seizures associated with serum theophylline levels between 14 and 35 mg/l. The seizures were frequently prolonged, and outcome was generally poor with eight deaths. Although we did not identify comparable control groups, possible risk factors for serious outcome in theophylline-associated seizures were age, previous brain injury or disease, severe pulmonary disease, and possibly low serum albumin level. In patients with these risk factors, serum theophylline levels should be maintained below 10 to 15 mg/l.
Multivessel PTCA using the hugging balloon technique based on single guide catheter and dual balloon-on-a-wire systems. For percutaneous transluminal coronary angioplasty (PTCA) of oversized arteries, often-times a satisfactory dilatation cannot be achieved with conventional balloon systems due to the unavailability of adequately sized balloons. This fact has contributed to a higher restenosis rate for this group of patients. We were able to obtain a satisfactory dilatation result in an oversized right coronary artery with a shepherd's crook configuration and eccentric anatomy at the origin using two balloon-on-a-wire systems and an Amplatz type guiding catheter. Although such favorable dilatation of an oversized artery using this "hugging balloon technique" can be expected, issues do exist such as difficult maneuverability and estimation of the balloon size obtained through simultaneous dual balloon inflation wherein size does not simply equal the sum of the two balloon catheters. It is hoped that there will be further improvements of the technique and development of new systems. At this time, however, it is felt that this is the most effective and reasonable strategy to achieve a high chance of success in oversized vessel lesions.
Combined interferon alfa and doxorubicin in the treatment of advanced cervical cancer. Interferon alfa and doxorubicin have been shown to have synergistic effects when tested in vitro with cells derived from cervical cancers. A clinical trial was designed, testing interferon alfa plus doxorubicin in patients with advanced or recurrent cervical cancers. Twenty-one patients were given interferon alfa, 10 million units per square meter intramuscularly and 10 million units per square meter intravenously over a 30-minute infusion period. One hour later 20 mg/m2 doxorubicin was given intravenously slowly over a 2-hour period. Treatments were repeated once weekly for 3 weeks. Initial response evaluation was done at week 5, and treatment was continued on an every-other-week schedule for patients showing favorable responses or stable disease. Bone marrow, hepatic, and renal toxicities were minimal. Fever and malaise were the major sources of toxicity. Of the 17 evaluable patients, six had clinical partial responses. Two of the responders have enjoyed more than 5 years' survival. This regimen is well tolerated and does have efficacy in some patients with advanced cervical cancers.