shukoor65/lab-rag-model huggingface dataset:
A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection. Vitamin D-dependent rickets type II is a hereditary disease resulting from a defective vitamin D receptor. In three Japanese patients with vitamin D-dependent rickets type II whose fibroblasts displayed normal cytosol binding and impaired nuclear uptake of 1,25-dihydroxyvitamin D3, western, Southern, and northern analyses failed to disclose any abnormalities in vitamin D3 receptor protein and its gene. Exons 2 and 3 of the vitamin D receptor cDNA, which encode the DNA-binding domain consisting of two zinc fingers, were amplified by PCR and sequenced to identify the specific mutations in the vitamin D receptor gene. In the three patients and one normal control a T-to-C transition was found in the putative initiation codon, while this transition was not observed in another normal control. This finding suggested that an original initiation codon was located at positions 10-12 in the human vitamin D receptor cDNA sequence reported previously. In contrast, a unique G-to-A transition at position 140 in exon 3, resulting in substitution of arginine by glutamine at residue 47, was revealed only in these three patients. The arginine at 47 is located between two zinc fingers and is conserved within all steroid hormone receptors. Therefore, it is highly conceivable that this amino acid substitution is responsible for the defect of the vitamin D receptor in the patients. Single-strand conformation polymorphism analysis of amplified DNA confirmed that all patients were homozygous and that parents from one family were heterozygous carriers for this mutation.
Encephalo-myelo-radiculo-ganglionitis presenting as pandysautonomia. A 68-year-old man developed pandysautonomia with severe orthostatic dysfunction, fixed heart rate, low serum levels of norepinephrine and epinephrine, absent sympathetic skin responses, and pupillary abnormalities. CSF protein was 92 mg/dl. In spite of a good recovery following corticosteroid administration, a relapse occurred, with accompanying sensory symptoms confined to both arms. Fatal sudden cardiac arrest occurred after 4 months. Autopsy revealed numerous lymphocytic infiltrates, predominantly in autonomic and sensory ganglia and, to a lesser extent, in the nerve roots, spinal cord, and brainstem without evidence for an underlying tumor. This case provides histopathologic evidence for an inflammatory etiology of panautonomic neuropathy in some patients.
Value of serum alkaline phosphatase and radionuclide bone scans in patients with renal cell carcinoma. Ninety-one patients who underwent radical nephrectomy for renal cell carcinoma (RCC) were reviewed to determine the prognostic value of serum alkaline phosphatase (SAP) levels and radionuclide bone scan. A preoperative SAP greater than 127 IU/L was a strong indicator of eventual disease progression or death, and an elevated SAP was a better predictor of eventual outcome than bone scan.
Second radical neck dissection. We report a series of 96 patients (62 men and 34 women) undergoing a second radical neck dissection for enlarged contralateral cervical nodes after primary treatment of a squamous cell carcinoma of the head and neck, including an ipsilateral radical neck dissection. The proportion of patients requiring a second later neck dissection varied from 0% for tumours of the nasopharynx, nasal cavity and paranasal sinuses, to 5% for tumours of the hypopharynx. The incidence of second neck dissection was not determined by the original T stage of the primary tumour, but patients with enlarged nodes at presentation were 5 times more likely to need a second neck dissection than those with no palpable nodes at presentation. Also, patients with a poorly differentiated tumour were twice as likely to need a second neck dissection as those with a well differentiated tumour. The overall 5-year survival after second neck dissection was 35% and the perioperative mortality 1.92%. Significant factors predicting survival after a second neck dissection were the time to recurrence, the clinical neck node status at recurrence, the number of histologically invaded nodes in the neck and the presence of extra-nodal disease.
Septic shock and multiple organ failure. OBJECTIVE: To assess the frequency and mortality rates of septic shock in ICU patients and the clinical course of multiple organ failure associated with septic shock. DESIGN: Retrospective case survey. SETTING: Tertiary care center. PATIENTS: During a 2-yr period, 2,469 consecutive intensive care patients were studied regarding the frequency and hospital mortality rates of septic shock. A subset of 1,311 patients was further analyzed for the occurrence of organ system failures within 48 hrs of the onset of septic shock and again 4 to 7 days later. MEASUREMENTS AND MAIN RESULTS: The frequency rate of septic shock was 1.9% (n = 48), with a mortality rate of 72.9% (n = 35) in patients with septic shock. Deaths due to septic shock represented 14.6% of all deaths in the ICU during the study period. Eighteen patients died within 72 hrs of the onset of septic shock. Refractory hypotension was the cause of death in 15 of these 18 patients. Beyond 72 hrs, multiple organ failure accounted for eight of 17 deaths. The mean +/- SD number of organ systems failing at 48 hrs was 3.3 +/- 1.3 in survivors and 4.0 +/- 1.1 in nonsurvivors, and at 4 to 7 days was 2.1 +/- 1.5 in survivors and 4.0 +/- 1.5 in nonsurvivors (p less than .05). None of the specific organ system failures had prognostic value. The number of organ system failures was not related to the duration of hypotension, but had a weak correlation (r2 = .26, p less than .05) with the duration of vasoactive treatment at 4 to 7 days. The prolonged need for norepinephrine therapy was associated with an increased occurrence of renal failure. Thirty (62.5%) patients had positive blood cultures and a mortality rate similar to the mortality rate of patients with negative blood cultures. Patients with negative blood cultures died more often with hypotension (p less than .02). CONCLUSIONS: Septic shock is a major cause of death in intensive care patients. Refractory hypotension is a main cause of early deaths. Later on, multiple organ failure becomes the primary clinical problem and cause of mortality.
Duplex ultrasound in the assessment of vascular disease in clinical hypertension. Duplex ultrasound combines B-mode imaging and pulsed Doppler flow analysis and is rapidly becoming the most useful and widely applied method for the evaluation of atherosclerotic arterial disease. Recent technical improvements including color flow Doppler allow its application to practically all vascular beds in the body. Duplex is noninvasive and in many areas its accuracy in the detection of arterial stenosis and occlusion rivals angiography. Duplex ultrasound has become the preferred method of evaluation of patients with cerebrovascular disease. It provides information about the degree of stenosis, location of disease, and plaque characterization, and in many cases replaces standard cerebral arteriography. Duplex ultrasound has been used to detect renal artery stenosis in patients suspected of having renovascular hypertension with an accuracy of 93% in the diagnosis of hemodynamically significant stenosis. It also has important applications in the assessment of mesenteric artery stenosis, peripheral vascular disease, and venous disease. Because it is accurate, reasonably inexpensive, and noninvasive, duplex ultrasound can be used to follow the progression of untreated atherosclerotic lesions throughout the body. Used in this fashion, it provides important information about the natural history of atherosclerotic lesions, their clinical prognosis, and the effect of interventions, either medical or surgical, on lesions.
Antigen-provoked increase in histamine reactivity. Observations on mechanisms. To investigate the effect of antigen provocation on nonspecific reactivity to histamine, nine allergic individuals underwent multiple nasal challenges with histamine, or antigen. The response to challenge was assessed by counting the number of sneezes and measuring the levels of albumin and TAME-esterase (TAME; [3H]N-alpha-tosyl-L-arginine methyl ester) activity in recovered nasal lavages. In the case of antigen, levels of histamine were also measured. In response to histamine, the subjects sneezed and had increased levels of albumin and TAME. The responses to antigen or histamine were unchanged 24 h after histamine provocation. The responses to histamine provocations were increased with respect to symptom scores and to the levels of TAME activity and albumin in nasal lavages compared to baseline challenge, however, 24 h after antigen provocation. Increasing antigen exposure from 1 to 3 days did not further increase the responsiveness to histamine. Histamine reactivity returned to baseline 12 days after antigen exposure. The number of eosinophils, neutrophils, and alcian blue-positive cells in the lavages after antigen challenge and before the histamine challenges correlated with the changes in response to histamine. The increase in sneezing induced by antigen stimulation correlated with the increase in the same parameter after histamine provocation 24 hr after antigen challenge (r = 0.88; p less than 0.01). Surprisingly, the other parameters assessed did not show similar correlations.
Capnography for detection of endobronchial migration of an endotracheal tube. A patient is described in whom migration of an endotracheal tube into the right main bronchus was suspected when end-tidal carbon dioxide suddenly decreased from 28 to 22 mm Hg. Acute changes with migration of the endotracheal tube into the main bronchus were also studied in an animal experimental model. End-tidal carbon dioxide decreased and tracheal (inflation) pressure increased, with no change in tidal volume. Arterial blood gases showed time-dependent decreases in pH and oxygen tension and an increase in carbon dioxide tension.
Treatment of migraine attacks with sumatriptan. The Subcutaneous Sumatriptan International Study Group BACKGROUND. The headache in migraine attacks may be caused by dilatation of certain cranial arteries or arteriovenous anastomoses, by neurogenic dural plasma extravasation, or by both of these mechanisms. Sumatriptan, a novel selective agonist of 5-hydroxytryptamine-like receptors, blocks these phenomena. We investigated its efficacy in migraine. METHODS. We studied 639 patients with migraine attacks in a randomized, double-blind, placebo-controlled, parallel-group clinical trial. We assessed the effect of subcutaneous injections of 6 or 8 mg of sumatriptan or placebo on the severity of headache and associated migrane symptoms 30, 60, and 120 minutes after treatment. Patients who were not free of pain after 60 minutes subsequently received placebo if they had initially received placebo or 8 mg of sumatriptan, and 6 mg of sumatriptan or placebo if they had initially received 6 mg of sumatriptan. RESULTS. After 60 minutes, the severity of headache was decreased in 72 percent (95 percent confidence interval, 68 to 76 percent) of the 422 patients given 6 mg of sumatriptan, 79 percent (95 percent confidence interval, 71 to 87 percent) of the 109 patients given 8 mg of sumatriptan, and 25 percent (95 percent confidence interval, 17 to 33 percent) of the 105 patients given placebo (data on 3 patients could not be evaluated). As compared with the placebo group, 47 percent (95 percent confidence interval, 38 to 57 percent) more patients who had received 6 mg of sumatriptan and 54 percent (95 percent confidence interval, 43 to 65 percent) more patients who had received 8 mg of sumatriptan had a decrease in the severity of headache (P less than 0.001 for both comparisons). After 120 minutes, 86 to 92 percent of the 511 patients treated with sumatriptan (202 assigned to 6 mg plus placebo, 203 to 6 mg plus 6 mg, and 106 to 8 mg plus placebo) had improvement in the severity of headache, as compared with only 37 percent of the 104 patients who received placebo once or twice (P less than 0.001 for all comparisons). Twenty-one patients were excluded from the analysis because of missing data (19) or protocol violations (2). The response rates did not differ significantly among the sumatriptan regimens. Adverse events were minor and transient in all groups. CONCLUSIONS. We conclude that a single 6-mg dose of sumatriptan given subcutaneously is a highly effective, rapid-acting, and well-tolerated treatment for migrane attacks. The administration of a second dose 60 minutes later to patients not responding well to an initial dose affords little additional benefit.
Helicobacter pylori infection in intestinal- and diffuse-type gastric adenocarcinomas [published erratum appears in J Natl Cancer Inst 1991 Jun 19;83(12):881] Gastric cancer can be divided into two histologic types: intestinal and diffuse. To determine whether Helicobacter pylori, a bacterium linked with gastritis, was associated with either cancer type, we reviewed histologic sections from stomachs of patients who had undergone gastrectomy for gastric cancer. Of 37 of the sections with evidence of intestinal-type cancer, 33 (89.2%) contained H pylori in noncancerous tissue compared with 7 (31.8%) of 22 of the sections with evidence of diffuse-type cancer (odds ratio = 17.7; P less than .001). This association remained strong when controlled for age, sex, site, and number of sections reviewed. The prevalence of H pylori in intestinal-type gastric cancer far exceeded the prevalence of H pylori in diffuse disease and that described in the normal US population. This finding suggests that H pylori may be a cofactor in development of intestinal-type gastric cancer.
Pubovaginal fascial sling for the treatment of complicated stress urinary incontinence. We reviewed retrospectively 67 consecutive women with complicated stress incontinence who underwent a pubovaginal fascial sling procedure by a single surgeon. A detailed micturition questionnaire was completed at the last followup, which ranged from 1 to 8 years, with a mean of 3.5 years. Postoperatively, 82% of the women claimed that they were never incontinent and never wore pads, while 9% were incontinent less often than once per 2 weeks and 9% 9% continued to have troublesome incontinence on a daily basis. Only 2 of these women had persistent stress incontinence; the remainder (5) had urge incontinence. In 6 patients with a neurogenic bladder postoperative urinary retention was expected and they were treated with intermittent self-catheterization. Two patients had urethral obstruction by the sling and required prolonged (probably permanent) intermittent self-catheterization.
Cholestasis without cirrhosis alters regulatory liver gene expression and inhibits hepatic regeneration. Partial hepatectomy (PH) initiates cellular signals for regeneration. Sequential expression of nuclear and cytosolic protooncogenes accompanies the restoration of normal liver function and architecture. Although cirrhosis is known to inhibit liver regeneration, the effects of noncirrhotic cholestasis on hepatocellular proliferation, differentiation, and regulatory gene expression are unknown. To examine this, 25 male Fisher rats underwent common bile duct ligation and division. A 47% +/- 5% PH was performed 10 days after common bile duct ligation and division when histologic analysis revealed cholestasis without cirrhosis. Despite early elevations of total hepatic DNA and RNA values, cholestatic livers demonstrated a significant threefold suppression of expected hepatocyte mitotic indexes 48 and 72 hours after PH, compared with livers after PH alone. Weight restoration in cholestatic livers was 11% +/- 5.2% compared with 40% +/- 4.3% in control livers (+/- SEM; p less than 0.001) 5 days after PH. Analysis of regenerating liver messenger RNA with complementary DNA probes revealed an abnormal, sustained elevation of K-ras expression in cholestatic livers through all time points. Cholestasis blunted but did not obliterate normal sequential elevations in H-ras found in control livers. The expression of c-myc was inhibited threefold with cholestasis 72 hours after PH. These results are the first indication that cholestasis alone inhibits hepatocyte proliferation and the expression of c-myc that normally precedes the first wave of mitosis. This implies that cholestasis without cirrhosis may alter programmed liver gene expression, inhibiting normal hepatic regeneration.
Cardiac biopsy in patients with "primary" atrial fibrillation. Histologic evidence of occult myocardial diseases. Fourteen patients (ten men and four women; mean age, 37 years) with lone atrial fibrillation (AF) (1 to 18 months' duration) were evaluated by thyroid function tests, two-dimensional echocardiography, hemodynamics, coronary angiography, and left ventricular endomyocardial biopsy, because of unresponsiveness to the usual antiarrhythmic therapy. The results of the T3, T4, TSH, and TRH tests were normal in all patients; cardiac valves and ventricular and atrial sizes (left atrium less than 40 mm) were within the normal limits; also normal were LVEDP (less than or equal to 10 mm Hg) and EF (greater than 0.50). Histologic findings were abnormal in all cases, with three patients showing cardiomyopathic changes, three other patients showing active myocarditis (lymphocytic in two and eosinophilic in one), and eight patients with nonspecific necrosis or fibrosis or both. Steroids (prednisone; 50 mg/m2 of body surface area daily) used in addition to antiarrhythmic therapy in patients with eosinophilic and lymphocytic active myocarditis were able to cause reversion to sinus rhythm, while the other patients continued to have AF. This study documents that occult myocardial diseases (myocarditis, cardiomyopathy, and nonspecific necrosis or fibrosis) can underlie "primary" AF. The addition of steroids to antiarrhythmic therapy in patients with refractory AF and histologic evidence of active myocarditis seems to be useful in controlling the arrhythmia.
Results of multivessel percutaneous transluminal coronary angioplasty in persons aged 65 years and older. Between 1981 and 1990, 1,373 patients, aged greater than or equal to 65 years (mean 71.2 +/- 4.9), underwent 1,640 multivessel percutaneous transluminal coronary angioplasty (PTCA) procedures. Of these, 224 patients (13.6%) had a left ventricular ejection fraction less than or equal to 40%, 412 (25.1%) had prior coronary artery bypass grafting (CABG) and 48 (2.9%) had left main artery dilatation. Of the 1,640 PTCA procedures, 697 were in patients with 2-vessel disease and 943 were in patients with 3-vessel disease. A mean 3.5 lesions were dilated per patient, with an overall angiographic success rate of 96%. Complete revascularization was achieved in 857 (52%). A total of 52 patients (3.2%) had a major in-hospital complication: 27 patients (1.6%) died, 24 (1.4%) had a Q-wave myocardial infarction, and 14 (0.8%) underwent emergent CABG. Stepwise logistic regression analysis identified ejection fraction less than or equal to 40% (p less than or equal to 0.001), 3-vessel disease (p less than or equal to 0.01), female gender (p less than or equal to 0.02), and PTCA between 1981 and 1985 (p less than or equal to 0.05) as independent predictors of mortality. Of the 1,373 patients, 1,023 have been followed for greater than or equal to 1 year (mean follow-up 32.5 +/- 21.3 months). There were 156 (15.2%) late deaths, 81 (7.9%) recurrent myocardial infarctions, and 162 (15.8%) coronary artery bypass operations. Actuarial survival, computed from the time of hospital discharge, was 92% at 1 year, 86% at 3 years and 78% at 5 years. Repeat PTCA was required in 371 patients (36.3%).
Multiple swallow test for the quantitative and qualitative evaluation of esophageal motility disorders Esophageal motility was evaluated from the analysis of six consecutive swallows. A sum image was generated comprising the representative information of an entire study. Calculation of emptying rates and characterization of the bolus behavior was performed from the sum image and the single swallow data. In 86 patients investigated, liquid and solid-phase studies showed a remarkable variation of single swallow data in normals (relative variation coefficient for liquid: 10%, solid: 14%), which were even higher (p less than 0.001) in patients with disorders (liquid: 31%, solid: 25%). As sum images compensate for this intra-individual variation, false-positive (liquid: 16%, solid: 25%) or negative single swallow findings (liquid: 36%, solid: 27%) are reduced. Qualitative analysis of condensed sum images provided characteristic image patterns representing different pathophysiologic aspects. Since the method introduced better discriminates between normal and pathologic function, it may enhance diagnostic accuracy.
Magnesium prophylaxis of menstrual migraine: effects on intracellular magnesium. The effects of oral Magnesium (Mg) pyrrolidone carboxylic acid were evaluated in 20 patients affected by menstrual migraine, in a double-blind, placebo controlled study. After a two cycles run-in period, the treatment (360 mg/day of Mg or placebo) started on the 15th day of the cycle and continued till the next menses, for two months. Oral Mg was then supplemented in an open design for the next two months. At the 2nd month, the Pain Total Index was decreased by both Placebo and Mg, with patients receiving active drug showing the lowest values (P less than 0.03). The number of days with headache was reduced only in the patients on active drug. Mg treatment also improved premenstrual complaints, as demonstrated by the significant reduction of Menstrual Distress Questionnaire (MDQ) scores. The reduction of PTI and MDQ scores was observed also at the 4th month of treatment, when Mg was supplemented in all the patients. Intracellular Mg++ levels in patients with menstrual migraine were reduced compared to controls. During oral Mg treatment, the Mg++ content of Lymphocytes (LC) and Polymorphonucleated cells (PMN) significantly increased, while no changes in plasma or Red Blood Cells were found. An inverse correlation between PTI and Mg++ content in PMN was demonstrated. These data point to magnesium supplementation as a further means for menstrual migraine prophylaxis, and support the possibility that a lower migraine threshold could be related to magnesium deficiency.
Malignant transformation of an osteoblastoma of the skull: an exceptional occurrence. Case report. What is apparently the first reported case of spontaneous malignant transformation of a benign osteoblastoma of the skull is described. The initial lesion was completely removed surgically and showed the histological features typical of a benign osteoblastoma. No radiotherapy was performed. Eleven years later the patient developed an osteosarcoma of the skull. Review of the literature showed that malignant transformation of benign osteoblastomas is extremely rare and could take place spontaneously. However, the risk of this occurring seems higher after inadequate initial treatment (curettage or partial excision). Follow-up monitoring of patients with osteoblastoma of the cranial vault is suggested.