shukoor65/lab-rag-model huggingface dataset:
Preclinical markers in studies of Parkinson's disease. The development of reliable preclinical detection procedures for idiopathic Parkinson's disease may be the fundamental advance required for the establishment of the cause, the natural history, and ultimately, the prevention of this neurodegenerative disorder. The usefulness of these preclinical markers in efforts to better understand the etiology and development of this disorder will relate to whether they are direct measures of dopamine production or indirect measures such as metabolic changes or comorbidity, whether they can be used in the first or later decades of life, whether they are invasive, and whether they are expensive and sophisticated or simple and cheap. An overview of the criteria for evaluation of the utility of specific markers, as well as an assessment of the importance of early markers in future research, is presented.
Rapid growth of untreated esophageal squamous-cell carcinoma in 10 patients. We documented the natural history of esophageal carcinoma and its rapid growth by measuring the change in tumor diameter radiographically in 10 patients during an observation period because the diagnosis had been missed. Nine men and one woman (age range, 48-74 years; mean, 60 years) were included in the study. Eight patients had undergone esophagography for gastrointestinal complaints and had lesions missed on the initial interpretation that were apparent on retrospective review after the patient had returned with more severe complaints and undergone repeat studies; two patients had refused treatment. The tumor was squamous-cell carcinoma in all. The treatment-free retrospective observation period ranged from 4 to 19 months (mean, 12.2 months) and was shorter for elevated (mean, 9.2 months) than for depressed lesions (mean, 16.8 months). The longitudinal diameter increased from 10-100 mm initially (mean, 30.5 mm) to 32-150 mm (mean, 74.9 mm). No correlation existed between the increase in size and histologic features. This documentation of the rapid increase in the size of esophageal carcinoma involving at least the submucosa confirms clinical impressions of the aggressive nature of this lesion and offers an explanation of why this disease is seldom detected at an early stage and long-term survival is so poor after the early stage of disease.
Primary intrasellar coccidioidomycosis simulating a pituitary adenoma. The case of a 68-year-old woman who had relatively acute, unilateral ophthalmoplegia is reported. Radiological studies indicated a mass lesion involving the pituitary gland and left cavernous sinus. Pathological tissue obtained by the transsphenoidal approach revealed the presence of a Coccidioides granuloma. This pathological entity should be considered when evaluating patients with a pituitary mass and ophthalmoplegia.
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. The sequence of a Pst I restriction fragment was determined that demonstrate instability in fragile X syndrome pedigrees. The region of instability was localized to a trinucleotide repeat p(CCG)n. The sequence flanking this repeat were identical in normal and affected individuals. The breakpoints in two somatic cell hybrids constructed to break at the fragile site also mapped to this repeat sequence. The repeat exhibits instability both when cloned in a nonhomologous host and after amplification by the polymerase chain reaction. These results suggest variation in the trinucleotide repeat copy number as the molecular basis for the instability and possibly the fragile site. This would account for the observed properties of this region in vivo and in vitro.
Correlation of the blind spot size to the area of the optic disk and parapapillary atrophy. We evaluated the relationship between the optic disk and the blind spot area. Using kinetic Goldmann perimetry in 23 patients with open-angle glaucoma and 19 normal subjects, the blind spot size was correlated significantly with the total area of the optic disk, peripapillary scleral ring, and parapapillary chorioretinal atrophy. Zone beta of the parapapillary atrophy with a visible sclera was attributed to an absolute scotoma, and zone alpha with irregular pigmentation was attributed to a relative scotoma. The blind spot was significantly larger in the glaucomatous eyes than in the normal eyes, which corresponded with a larger zone beta in the glaucomatous eyes. The intrapapillary and parapapillary region of the optic nerve head correlated to the size of the blind spot, which included the parapapillary chorioretinal atrophy and a significant size difference between normal and glaucomatous eyes.
Gastroenteritis associated with consumption of raw shellfish--Hawaii, 1991. On January 2, 1991, 12 of 24 persons who attended one or more of three New Year's celebrations in Honolulu, Hawaii, had onset of gastrointestinal illness. An investigation by the Epidemiology Branch of the Hawaii Department of Health (HDOH) determined that the only common foods shared by participants were oysters and clams provided by one distributor.
Familial juvenile polyposis coli and colorectal cancer. A 40-year-old mother and her 7-year-old son underwent colectomy for polyposis coli. Both colectomy specimens contained predominantly juvenile polyps. The mother's specimen also had numerous tubular adenomas and one 5-cm severely dysplastic villous adenoma without invasive carcinoma. Foci of adenomatous change in juvenile polyps were present in the son's specimen. The histologic features of both cases suggest a sequence of change from juvenile polyps to adenomatous polyps to cancer.
Mesenteric infarction secondary to tumor emboli from primary aortic sarcoma. Guidelines for diagnosis and management. Primary aortic tumors are rare, difficult to diagnose, and often fatal. This case and a review of the literature identified aortic tumors as a potential source of emboli leading to acute mesenteric insufficiency. The case showed the efficacy of magnetic resonance imaging in diagnosing and determining the extent and location of an aortic tumor.
MDR1 gene expression and treatment outcome in acute myeloid leukemia To prospectively assess the role of MDR1 gene expression in patients with de novo acute myeloid leukemia (AML), levels of MDR1 RNA in blast cells were determined at diagnosis and correlated with treatment outcome in 63 patients. MDR1 RNA levels were negative in 29% and positive in 71% of the patients. The complete remission rate in response to induction chemotherapy was 89% for MDR1 RNA-negative patients and 53% for MDR1 RNA-positive patients (P = .008). Expression of the MDR1 gene was observed in most patients who died early or had resistant disease. Kaplan-Meier curves revealed a decrease in both disease-free survival and overall survival of patients with detectable MDR1 gene expression compared with the disease-free survival and overall survival of MDR1 RNA-negative patients (P = .029 and P = .009, respectively). These data indicate that MDR1 gene expression is an unfavorable prognostic factor and suggest that multidrug resistance is important in AML.
Increased dopamine-induced nephrogenous cAMP formation in hypertension. Low doses of exogenous dopamine (3 micrograms/kg/min) were administered intravenously to nine patients with essential hypertension and to six age-matched healthy volunteers. During infusion with dopamine, mean arterial blood pressure decreased in hypertensive patients whereas it did not change in normotensive subjects. Basal levels of sodium excretion were comparable in hypertensive and normotensive subjects. The natriuretic response to dopamine was significantly greater in hypertensive patients. Urinary and nephrogenous cAMP significantly increased in both normotensive and hypertensive subjects. The increase of nephrogenous cAMP was more pronounced in hypertensive patients than in normotensive controls. A significant correlation was found between nephrogenous cAMP and sodium excretion. The enhanced natriuretic response to dopamine in hypertensive patients may be due to increased cAMP formation in response to tubular dopamine receptor stimulation. This is in agreement with the hypothesis of either up-regulation or affinity changes of renal dopamine receptors in patients with essential hypertension, secondary to a decreased endogenous production of intrarenal dopamine.
Surveillance for recurrent stenosis after endovascular procedures. A prospective study. Eighty-nine endovascular procedures were performed during a 1-year period. Techniques included balloon angioplasty (n = 50), laser-assisted balloon angioplasty (n = 32), and atherectomy (n = 7). Indications were claudication (65.2%), critical ischemia (30.3%), and failing bypass (4.5%). Preoperative evaluation included a history and physical examination, segmental limb pressures, and color duplex ultrasonography. Postoperative surveillance consisted of a history and physical examination, ankle-arm indexes, and color duplex examinations at 1-week, 1-month, and then 3-month intervals. All levels of aortoiliac and infrainguinal disease were treated. Immediate technical success rate was 89.8%. Recurrence rates by life-table analysis reveal a 9-month patency rate of 45.4%. Early results of this prospective study indicate that endovascular procedures are subject to significant restenosis rates. Restraint is advised concerning general acceptance of endovascular procedures pending critical study.
Pain and vascular reflexes in man elicited by prolonged noxious mechano-stimulation. Interdigital webs of the hands of human volunteers were pinched for periods of 2 min duration to induce tonic pain perceptions. During stimulation, the subjects gave estimates of their pain level at 10-sec intervals on a visual analogue scale, and the stimulus induced changes of the skin blood flow in the stimulated hand was assessed by photo-plethysmography. Sustained pinching induced a tonic reflex vasoconstriction in the stimulated hand with rather slow adaptation rate and no signs of habituation between trials. Step increases of the pinching force in the course of a stimulus were reflected by a decrease in plethysmogram amplitude as well as by increased pain ratings, although the subjects were usually unaware of these steps. Lowering the stimulus strength induced opposite, albeit much smaller effects in both pain ratings and vascular reactions. It is concluded that the vasomotor responses described in this paper are mediated by nociceptor input and reflect the processing of this input mainly at a spinal level.
Striking CT scan findings in a case of unilateral moyamoya disease--a case report. The authors report striking CT scan findings in a young woman with unilateral Moyamoya disease. Serial CT scans showed features that paralleled the clinical and pathophysiologic evolution of the disorder, in much the same way as has been reported in studies using serial angiograms.
Acute delta hepatitis: serological diagnosis with particular reference to hepatitis delta virus RNA. To evaluate serologic diagnosis of hepatitis delta virus, we tested HDV RNA in stored sera from 48 patients with acute delta hepatitis who were identified with anti-HD antibodies. Initial sera were positive for HDV RNA in 27 of 48 (56%) patients. In comparison, isolated IgM anti-HD was present in 18 (38%) patients, although IgM and IgG anti-HD were present concurrently in 16 (33%) additional patients. Overall, either HDV RNA or IgM anti-HD was present in 69% of the initial sera. The HDV infection was self-limiting in all except two patients who died of fulminant hepatitis and nine others in whom chronic delta hepatitis ensued. Patterns of HDV seropositivity during progression to chronicity induced variable persistence, disappearance or recrudescence of either HDV RNA or IgM and IgG anti-HD. Results of HDV RNA and IgM anti-HD tests were concordant in only 40-50% of instances. Our results indicate that serological testing for HDV RNA is direct and will demonstrate HDV replication in a large number of cases with acute delta hepatitis. Testing for IgM anti-HD could provide supplemental evidence for HDV infection. Sequential testing for these markers will facilitate assessment of the outcome of acute HDV infection.
The endoscopic repair of choanal atresia. Since 1755, when choanal atresia was first described by Roederer, more than 300 papers have appeared in the literature dealing with various aspects of choanal atresia. Today's preferred methods of repair are transnasal and transpalatal. Each method has its advantages, disadvantages, proponents, and opponents. The main disadvantage of the transnasal procedure is limited vision, even with a microscope, especially in newborn infants, and the inability to adequately remove enough vomerine septal bone to prevent restenosis. Endoscopic transnasal repair of choanal atresia provides excellent visualization and the ability to perform exact surgery on patients of all ages. Described are four patients who underwent endoscopic repair of choanal atresia. Three of the four have patent nares, one patient after revision surgery. The technique is discussed along with its advantages and disadvantages relative to other surgical treatment modalities.
Assessment of left atrial appendage function by transesophageal echocardiography. Implications for the development of thrombus. BACKGROUND. The predilection of the left atrial appendage (LAA) for thrombus formation has long been known. METHODS AND RESULTS. We prospectively studied the two-dimensional echocardiographic and Doppler patterns of LAA function in 82 patients by transesophageal echocardiography. In the 63 patients in sinus rhythm, LAA area was measured during LAA diastole at the onset of the electrocardiographic (ECG) P wave (LAAmax) and after LAA systole at the ECG R wave (LAAmin) and LAA ejection fraction was calculated as (LAAmax-LAAmin)/LAAmax; peak Doppler velocity was recorded from the LAA outlet. The 58 patients in sinus rhythm without LAA thrombus were grouped according to left atrial size on transthoracic echocardiography; 39 patients had a left atrial size of less than 40 mm (group 1) and 19 had a left atrial size of 40 mm or greater (group 2). Five patients in sinus rhythm had LAA thrombus. In the 19 patients with atrial fibrillation or flutter LAAmax was measured independent of the ECG; three of these patients had LAA spontaneous contrast, four had thrombus, and one had both. Patients in sinus rhythm without LAA thrombus demonstrated a characteristic pattern of a contractile LAA apex and a noncontractile base with color flow and pulsed Doppler evidence of LAA emptying that coincided with the P wave. Patients in sinus rhythm with LAA thrombus had a mean +/- SD LAAmax (8.0 +/- 1.5 cm2) larger than that in group 1 (5.0 +/- 1.9 cm2) (p less than 0.01) but not group 2 (6.7 +/- 3.1 cm2), LAAmin (6.5 +/- 1.0 cm2) larger than that in both group 1 (2.3 +/- 1.5 cm2) and group 2 (4.2 +/- 2.7 cm2) (p less than 0.01), and LAA ejection fraction (17 +/- 11%) and LAA velocity (0.24 +/- 0.10 m/sec) less than those in both group 1 (55 +/- 21% and 0.48 +/- 0.24 m/sec, respectively) and group 2 (45 +/- 27% and 0.46 +/- 0.24 m/sec, respectively) (p less than 0.01). Patients with atrial fibrillation or flutter with LAA spontaneous contrast and/or thrombus had LAAmax (10.4 +/- 6.6 cm2) greater than that in patients with atrial fibrillation or flutter without LAA contrast and/or thrombus (6.8 +/- 3.0 cm2) (p less than 0.05). The LAA appeared as a static pouch in seven of eight of the former compared with in two of 11 of the latter. When attempted, Doppler demonstrated a recognizable fibrillatory LAA outflow velocity pattern in none of three in the former versus four of seven in the latter group. CONCLUSIONS. We conclude that the LAA has a characteristic pattern of emptying in sinus rhythm. LAA thrombus formation in sinus rhythm and atrial fibrillation is associated with both poor LAA contraction and LAA dilation.
Square wave jerks in parkinsonian syndromes. The frequency of square wave jerks (SWJ) was compared in eight patients with progressive supranuclear palsy (PSP), 25 patients with multiple system atrophy or Parkinson's disease plus (MSA/PP), 85 patients with idiopathic Parkinson's disease (PD) and 20 age-matched normal volunteers. In the control group, the mean (SD) SWJ frequency (SWJ larger than 1 degree amplitude) was 2.3 (2.4)/min. Abnormal ocular fixation (SWJ frequency greater than 10/min) was observed in a large proportion of PSP patients (7/8) and of MSA/PP patients (16/25) but in few PD patients (13/85). In the group of PD patients with abnormal ocular fixation, freezing of gait, falls and instability were more severe than in the group of PD patients with normal fixation. The study of ocular fixation may help to differentiate PD clinically from other Parkinsonian syndromes. SWJ are probably not related to the central degeneration of the dopaminergic nigrostriatal pathway observed in PD.
Consequences of ileal pouch-anal anastomosis for Crohn's colitis. Patients with Crohn's colitis are generally not considered candidates for the ileal pouch-anal anastomosis (IPAA) procedure. We reviewed 362 consecutive patients undergoing IPAA and analyzed the outcome of this procedure on 25 patients with a preoperative diagnosis of mucosal ulcerative colitis who were subsequently proven to have Crohn's disease. The mean follow-up was 38.1 months. Sixteen patients have a functioning pouch, seven have required pouch excision, one is diverted, and one has died. Only one of nine patients in whom there was a preoperative clinical feature suggestive of Crohn's disease has a functioning pouch, with complications uniformly occurring within months of ileostomy closure. In contrast, 15 of 16 patients without preoperative features of Crohn's disease have maintained their pouch, generally with good results. These data suggest that patients in whom there is clinical and pathologic evidence of Crohn's disease do very poorly without meaningful symptom-free intervals. However, patients without any clinical features of Crohn's disease, despite a histopathologic diagnosis of Crohn's colitis, have had a good outcome with IPAA thus far.
Roles of deoxycholate and arachidonate in pathogenesis of cholesterol gallstones in obese patients during rapid loss of weight. Our aim was to examine the relationship between biliary deoxycholate and arachidonate in obese patients and the relationship of deoxycholate and arachidonate to the stimulation of biliary mucous glycoprotein among obese patients predisposed to cholesterol gallstones. Thirty-four obese patients predisposed to cholesterol gallstones by a weight-reducing diet (520 kcal/day) received placebo, ursodiol (1200 mg/day), or aspirin (1300 mg/day). Duodenal bile was collected prior to beginning the diet and at four weeks. There was no correlation between deoxycholate and arachidonate among the 34 patients before beginning the diet. With placebo, deoxycholate decreased while arachidonate and glycoprotein increased. With ursodiol, deoxycholate decreased while arachidonate decreased and glycoprotein did not change. With aspirin, there was no change in deoxycholate but a decrease in arachidonate and no change in glycoprotein. Our data do not support a role for biliary deoxycholate in the regulation of biliary arachidonate. Our data do support a role for arachidonate, but not deoxycholate, in the regulation of biliary glycoprotein during the formation of cholesterol gallstones.
Psychiatric illness in patients with chronic fatigue and those with rheumatoid arthritis OBJECTIVES: To identify psychiatric differences between patients with chronic fatigue and those with rheumatoid arthritis and to investigate whether patients meeting Centers for Disease Control (CDC) criteria for chronic fatigue syndrome (CFS) can be differentiated from patients with chronic fatigue on measures of disability and psychosocial distress. DESIGN: Cross-sectional study comparing 98 patients with chronic fatigue with 31 patients with rheumatoid arthritis on structured psychiatric interviews and patient questionnaires. Nineteen patients meeting CDC criteria for CFS were compared with 79 patients with chronic fatigue not meeting CDC criteria on questionnaires measuring disability and psychosocial distress. SETTING: Consecutive patients with chronic fatigue were selected from a chronic fatigue clinic at the University of Washington, and 31 consecutive patients with rheumatoid arthritis were sampled from a private rheumatology practice. MAIN RESULTS: Patients with chronic fatigue had a significantly higher prevalence of lifetime major depression and somatization disorder than did patients with rheumatoid arthritis. Patients with chronic fatigue also had a significantly higher prevalence of current and lifetime psychiatric diagnoses. Only 19 of 98 patients with chronic fatigue met CDC criteria for CFS. Patients meeting CDC criteria for CFS could not be differentiated from the larger group of patients with chronic fatigue on any study variable. CONCLUSIONS: Patients with chronic fatigue have a significantly higher burden of psychiatric illness than do patients with rheumatoid arthritis. The psychiatric illness preceded the development of chronic fatigue in over half the patients. Centers for Disease Control criteria for CFS did not select a subset of chronic fatigue patients who could be differentiated on disability or psychosocial parameters from patients with chronic fatigue who did not meet CDC criteria.
Mitral valve repair in the extensively calcified mitral valve annulus. Mitral valve replacement in patients with an extensively calcified mitral annulus is associated with an increased risk of ventricular rupture. Until now techniques of mitral valve repair have not been applied to patients with a heavily calcified mitral valve annulus. We present 12 patients who underwent extensive decalcification of the annulus with subsequent mitral valve repair between 1987 and 1990. Ages ranged from 11 to 78 years; 6 patients were in New York Heart Association functional class II, 4 were in class III, and 2 were in class IV. All patients had varying degrees of mitral insufficiency. There were no deaths, reoperations, or thromboembolic events. Postoperative echocardiography revealed minimal residual mitral insufficiency in only 2 of 12 patients. All patients are currently in New York Heart Association class I or II. We believe mitral valve repair can be done safely on patients with an extensively calcified mitral annulus, thus avoiding the risks of left ventricular rupture, thromboembolic events, and hemorrhagic complications associated with mitral valve replacement.
A novel technique for the evaluation of mechanical pain and hyperalgesia. We describe a new technique which is useful for the evaluation of mechanically induced pain and hyperalgesia. Light metal cylinders are guided and accelerated in a barrel. On impact against the skin they elicit a brief sensation of pain. This method allows the application of a wide range of controllable innocuous and noxious impact velocities of the cylinder at variable stimulus repetition rates. The system is sufficiently flexible to stimulate perpendicularly any skin area and to move rapidly to adjacent target regions if desired. Psychophysical testing using magnitude estimation techniques revealed that pain thresholds were normally distributed. Over a wide range of stimulation intensities monotonically increasing stimulus response functions were obtained. Repeated testing showed a good intra-individual reproducibility of both threshold and supramaximal pain ratings. The method was also useful in determining the time course of pain and mechanical hyperalgesia following a brief painful stimulus. We conclude that the new technique is useful for evaluating psychophysical stimulus response functions of mechanically induced pain and its changes following tissue injury. This technique may also hold some promise in quantifying altered pain sensitivity in patients.