123rc/medical_text huggingface dataset:
A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome. A distinct triad of central nervous system (CNS) malformations (prosencephalic dysgenesis, occipital exencephalocele and rhombic roof dysgenesis) was present in seven cases of the Meckel-Gruber syndrome examined at autopsy. We compared our findings with those previously described. Microcephaly, sloping forehead, posterior occipital exencephalocele, cerebellar hypoplasia, Chiari malformation, hydrocephalus, polymicrogyria, arhinencephaly, holoprosencephaly and anencephaly constituted a broad spectrum of the reported CNS anomalies. Few reports contained a comprehensive description of the observed CNS malformations. In those reports, and in our cases, features of prosencephalic dysgenesis included agenesis of olfactory bulbs and tracts (arhinencephaly), hypoplasia of optic nerves and chiasm, agenesis of corpus callosum, fused thalami or complete holoprosencephaly. The occipital encephalocele has consisted of a displacement of rhombic roof elements, including caudal third ventricle, cerebellar vermis and fourth ventricle, extruded through an enlarged posterior fontanelle rather than through an occipital cranium bifidum and is thus more precisely labeled an exencephalocele. Different degrees of dysgenesis of posterior fossa structures, described by some as a variant of Dandy-Walker cyst with features of a Chiari malformation, were often associated with this occipital exencephalocele. This pattern of CNS anomalies represents a triad of malformations probably associated with defective ventral induction of the developing CNS by the prechordal mesoderm.
Adenocarcinoma arising in Barrett's esophagus after total gastrectomy A 64-yr-old Japanese male who underwent a partial gastrectomy for a duodenal ulcer at the age of 21, a total resection of the remnant stomach for a stomal ulcer at age 25, and in whom Barrett's esophagus was diagnosed at age 47, was found to have a tumor at the distal esophagus and was operated on by thoracic esophagectomy. The tumor was a well to moderately differentiated adenocarcinoma invading down to the muscularis propria. The entire esophageal mucosa in the resected specimen was lined by columnar epithelium. This tumor was thought to derive from the Barrett's esophageal epithelium.
Retinal vasculitis as a complication of rheumatoid arthritis. Two middle-aged women developed retinal vasculitis in the moderately active phase of classical rheumatoid arthritis. Fluorescein angiography disclosed diffuse leakage from the retinal capillaries and cystoid macular edema, which subsided in response to oral steroid. They did not show any clinical signs of vasculitis in other parts of the body. Retinal vasculitis should be included in the list of complications observed in rheumatoid arthritis.
A combined electromyographic and cineradiologic investigation in patients with defecation disorders. Records from 20 patients on whom defecography and electromyography were performed simultaneously because of defecation disorders were analyzed. According to the electromyographic investigation, the patients could be divided into three main groups: 1) normal sphincter reaction; 2) paradoxical sphincter reaction; and 3) combined reaction. Group A was characterized by a marked reduction of muscular activity during emptying and a pronounced closing reflex after emptying. This was followed by return of normal tonic activity. Patients in group B had no relaxation of the sphincters during emptying but a pronounced increased activity in the external sphincter and the puborectalis muscle. They also had severe emptying difficulties at defecography. No closing reflex was seen. In group C the electrical activity in the sphincters increased during moderate straining and when emptying was complete a clear closing reflex was seen. In this study, a dynamic visualization of the defecation together with a registration of electromyographic activity in the striated anal sphincters was performed. It was shown that patients with paradoxical sphincter reaction were lacking a closing reflex after emptying was complete. This has not been reported previously and is important evidence for the paradoxical defecation pattern. It was also shown that the patients with rectoceles had paradoxical sphincter reaction.
Colonic polyamine content and ornithine decarboxylase activity as markers for adenomas. Polyamine content (putrescine, spermidine, and spermine) or ornithine decarboxylase (ODC) activity was measured in normal-appearing colonic mucosa from patients undergoing colonoscopy. Comparisons were made between those with and those without adenomatous polyps. Colonic mucosal polyamine content was measured in 44 persons. Mean putrescine content was 1.25 +/- 0.26 (SE) nmol/mg protein in 22 patients with adenomatous polyps compared with 0.53 +/- 0.12 nmol/mg protein in patients without polyps (P less than 0.02). Tissue content of spermidine and spermine did not differ between these two groups. Ornithine decarboxylase activity was measured in tissue from 45 patients. Mean ODC activity was 2.84 +/- 0.73 pmol/hr/mg protein in 23 persons with adenomatous polyps compared with 1.15 +/- 0.18 pmol/hr/mg protein in persons without polyps (P less than 0.05). Mucosal putrescine and ODC activity are elevated in patients with adenomatous polyps compared with patients without polyps. These biochemical markers may prove helpful in improving surveillance methods for colorectal cancer and premalignant adenomatous polyps.
Modifying the translabyrinthine approach to preserve hearing during acoustic tumour surgery. Removing an acoustic schwannoma using the translabyrinthine approach has previously been considered incompatible with hearing preservation. By modifying the approach and preventing the loss of endolymph, we have successfully removed an intracanalicular acoustic schwannoma, which originated from the inferior vestibular nerve, and preserved hearing in the operated ear. This report represents the preliminary findings using this particular technique in the management of an intracanalicular acoustic tumour.
Myofibroblastoma of the tongue. An immunohistochemical, ultrastructural, and flow cytometric study. A case of myofibroblastoma arising in the tongue of a 77-year-old man is described. The patient presented with a submucosal tongue mass without other associated symptoms. The tumor was 2 cm in diameter, well circumscribed, and composed of uniform spindle cells arranged in fascicles. Electron microscopic examination and immunohistochemistry demonstrated a myofibroblastic origin for the tumor cells. DNA flow cytometric analysis showed a diploid DNA content of this tumor. To the authors' knowledge, this is the first report of myofibroblastoma occurring in the tongue.
Risk of cancer death in first-degree relatives of patients with hereditary non-polyposis cancer syndrome (Lynch type II): a study of 130 kindreds in the United Kingdom. To estimate the relative risks of cancer in first-degree relatives of index patients, 130 pedigrees of dominantly inherited Lynch type II cancer family syndrome have been analysed. The risk of death from all causes was significantly increased in women over 45 years of age and the overall liability to cancer in women was greater than for men. A sevenfold increase in risk of colon cancer was found in both sexes. In female relatives the risk of breast cancer was increased fivefold and lifetime risk of breast cancer was 1 in 3.7. A screening programme based on estimated risks could be offered to first-degree relatives of index patients with Lynch type II cancer family syndrome.
Cerebral vein thrombosis shown by MRI. A 46 year old man with a short history of left facial pain and numbness, and subsequently headaches, had a normal physical examination and a normal CT scan of head. Lumbar puncture yielded normal CSF under increased pressure. MRI showed thrombosis of the superior sagittal sinus, subsequently confirmed by angiography. MRI is a sensitive test for detecting intracranial venous thrombosis, and may be the investigation of choice when this disorder is suspected.
Adrenergic stimulation of renal prostanoids in the Lyon hypertensive rat. Young, genetically hypertensive Lyon (LH) rats exhibited an increased renal in vivo turnover of norepinephrine and an elevated urinary excretion of thromboxane B2 when compared with normotensive (LN) and low blood pressure (LL) controls. Therefore, the effects of norepinephrine (1.2 x 10(-8) to 9.6 x 10(-7) M) and of phenylephrine (5 x 10(-8) to 1.9 x 10(-6) M) on renal function and the urinary excretion of prostanoids were assessed in isolated perfused kidneys of 8-week-old LH, LN, and LL rats. In addition, the effects of norepinephrine were assessed before and during thromboxane A2/prostaglandin H2 receptor blockade by AH23848 (4 x 10(-6) M). Before drug infusion, LH kidneys differed from those of LN and LL controls by having an elevated renal vascular resistance and a decreased natriuresis and glomerular filtration rate; the urinary output of prostaglandin E2 and F2 alpha, of 6-ketoprostaglandin F1 alpha, and of thromboxane B2 was similar in the three strains. The constrictor effects of norepinephrine and phenylephrine were significantly increased in LH rat kidneys compared with LL but not with LN controls, and their pressure-natriuresis was markedly reduced. Norepinephrine and phenylephrine induced a 10- to 20-fold dose-dependent increase in the synthesis of the four prostanoids, which was more pronounced in LH than in LN and LL rats for thromboxane B2 only. AH23848 infusion significantly reduced the vascular effects of norepinephrine and increased the natriuretic response of LH but not of LN and LL rat kidneys.
Primary carcinoma of the gallbladder. Seventy-four patients with primary carcinoma of the gallbladder, diagnosed over 18 years from 1969 to 1987, were studied retrospectively. The most common presenting complaint was abdominal pain, followed by jaundice and weight loss. Surgery was performed in 61 patients and of these patients, only two had accurate preoperative diagnosis which was made by ultrasonography. Twelve of the 13 patients who were treated medically had the disease diagnosed at autopsy. One of the 13 patients had the diagnosis of gallbladder cancer by the findings of ultrasonography and abdominal computed tomography (CT) scanning. The resectability of the surgically managed group was 36.1%, and the majority of patients with advanced tumors (82.2%) were deemed unresectable. The most common histologic type was adenocarcinoma. Liver was the organ most commonly invaded (76.5%) by direct extension and/or metastases, followed by regional lymph nodes (52.9%). The overall 5-year survival rate was 5.4%. A high index of suspicion of the disease, intraoperative examination of gallbladder specimen, and earlier, more aggressive surgical treatment may improve patient survival.
Prognostic significance of exercise versus resting blood pressure in hypertensive men. The outcome of 143 male hypertensive patients, investigated in the period 1972-1982, was ascertained in 1989 to determine if brachial artery pressure measured during a progressive graded exercise test on the bicycle ergometer is a better predictor of mortality and cardiovascular events than pressure at rest. During the total follow-up time of 1,573 patient years, 27 patients suffered at least one fatal or nonfatal cardiovascular event and 13 patients died. Using the Cox regression model, the age-adjusted relative hazard rates of systolic pressure at supine rest, at 50 W, at peak work load, and at 50% of peak exercise capacity were significant for total mortality (p less than or equal to 0.01) and for cardiovascular events (p less than or equal to 0.03). Pressure during exercise, however, did not significantly (p = 0.11-0.97) predict the outcome of the patients when age and pressure at rest were taken into account. The results were similar for diastolic pressure. In conclusion, intra-arterial pressures at rest and during submaximal and peak exercise significantly predict mortality and the incidence of cardiovascular events in hypertensive men, independent of age. However, there is no additional prognostic precision of the exercise pressures when age and the rest pressure are taken into account.
Simulated left ventricular aneurysm and aneurysm repair in swine. Patch reconstruction of left ventricular aneurysm may be superior to linear closure, but this hypothesis has not been tested experimentally. Accordingly, six anesthetized domestic pigs were instrumented to measure regional left ventricular wall thickening, stroke volume, systolic left ventricular pressure, and myocardial oxygen consumption. With total bypass and cardioplegia, a 6 by 8 cm Dacron patch was inserted into the anteroapical left ventricle. Simulations were as follows: left ventricular aneurysm, patch open; patch reconstruction, 50% patch plication; standard repair, ventriculotomy edges approximated. Global function, from stroke work (stroke volume x integral of left ventricular pressure)-left ventricular end-diastolic pressure curves, was depressed in all three simulations compared with control. A tendency for stroke work to be greater for standard repair than for left ventricular aneurysm and patch reconstruction at higher preloads was not statistically significant. Mechanical efficiency, from stroke work/myocardial oxygen consumption (joules per milliliter oxygen per beat), was 2.43 +/- 0.52 (mean +/- standard error of the mean) (control), 2.22 +/- 0.94 (standard repair), 1.27 +/- 0.39 (patch reconstruction), and 1.09 +/- 0.37 (left ventricular aneurysm) (no significant differences). Regional work was calculated as regional left ventricular wall thickening x integral of left ventricular pressure. The slope of the regional work-end-diastolic wall thickness relation decreased in the posterior wall 14.0 +/- 2.9 (control) versus 8.4 +/- 2.0 (left ventricular aneurysm), 6.9 +/- 1.4 (patch reconstruction), and 7.4 +/- 1.4 (standard repair) (p less than 0.05). In the anterior wall, contractility did not change significantly (7.4 +/- 1.2, control; 7.8 +/- 2.7, left ventricular aneurysm; 5.0 +/- 0.4, patch reconstruction; and 5.3 +/- 0.4, standard repair). Decreased end-diastolic wall thinning anteriorly suggested tethering. These results in the normal left ventricle suggest that patch ventriculoplasty is of no greater benefit than linear repair. Either repair may impede function of adjacent myocardium through restriction of regional diastolic lengthening.
Functional heart replacement with the spindle pump: first results. The spindle pump is a nonpulsatile blood pump with a double function, i.e., it works centrifugally and represses simultaneously. The first experiences with this type of pump used as a biventricular assist device in four short-term animal experiments (up to 13 hours) are described. It can be demonstrated that in cases of a normally beating heart, this BVAD decompresses both ventricles by 60-70%, while the aortic pressure is slightly increased; on the other hand, in case of ventricular fibrillation, the BVAD with two spindle pumps maintained the entire circulation, at an arterial pressure between 80 and 90 mmHg with a flow volume between 3.5 and 4 L/min.
Arterial protection: a neglected but crucial therapeutic goal. Hypertension is accompanied by 2 major types of arterial pathologic conditions: smooth muscle hypertrophy of arteriolar resistance vessels and atherosclerosis, primarily involving the larger arteries. Smooth muscle hypertrophy may develop either as a secondary defense against elevated intravascular pressure or as a primary defect responsible for the increased pressure. Insulin and a number of other trophic stimuli may play a pathogenetic role in vascular hypertrophy. Reducing blood pressure and trophic stimuli may cause hypertrophy to be reversed. Because atherosclerosis may be markedly accelerated by hypertension, especially in the presence of concomitant risk factors, such as hypercholesterolemia, cigarette smoking and diabetes mellitus, antihypertensive treatment may attenuate or even reverse the extent of atherosclerosis, but only when the causative factors are also corrected. Some commonly used antihypertensive agents, e.g., diuretics and beta blockers without intrinsic sympathomimetic activity, often aggravate hypercholesterolemia and glucose intolerance, thereby diminishing their potential protective value. Other types of drug therapy, such as alpha blockers, beta blockers with intrinsic sympathomimetic activity or other vasodilator activity, angiotensin-converting enzyme inhibitors and calcium entry blockers that may not induce biochemical changes, should provide better control of multiple risks and thereby better protection against atherosclerosis. With a better understanding of how hypertension induces arterial damage, clinicians will be able to provide more appropriate treatment and, it is hoped, alleviate such damage.
Social environment and social support. Research on the relevance of social support to cancer has been plentiful since the first American Cancer Society workshop on methodological issues in behavioral and psychosocial science. Nonetheless, critical shortcomings continue to characterize the attempt empirically to establish such things as the extent to which social support predicts adjustment to cancer diagnosis and treatment. Prominent among these is the failure to adequately address large elements of the social structure, such as social class and urbanization, and to investigate how they shape the well being of persons with or at risk for cancer and their caregivers. We recommend that more psychosocial research on the link between social support and cancer be conducted within populations beset by poverty and without adequate access to health care. Funding is needed for the training and maintenance of multidisciplinary and multicultural teams of researchers working within community-based organizations and hospitals serving the underserved.
Lower leg subcutaneous blood flow during walking and passive dependency in chronic venous insufficiency. The blood flow in the subcutaneous adipose tissue of the lower leg of eight normal subjects and 19 patients with chronic venous insufficiency was measured. The 133Xe-washout technique was used with portable CdT1(C1) detectors and a data storage unit. Only those patients with ulcers and a systolic blood pressure at the toe of greater than or equal to 60 mm were investigated. In the controls the relative blood flow during sitting was 0.61 (range 0.35-0.80). In the patients it was 0.46 (range 0.22-0.87). This difference was not significant. During walking the blood flow increased in controls as well as in the patients compared to the value determined in the sitting position (P = 0.0078 and P = 0.0028, respectively, Wilcoxon matched-pairs test). The relative blood-flow rate during walking was 0.96 (range 0.60-1.58) in the controls, and 1.04 (range 0.49-1.46) in the patients. The difference between the normal subjects and the patients was not significant (P = 0.79). We conclude from our studies that patients with venous insufficiency are able to increase their blood flow during walking to the same extent as normal controls.
Comparison of medical and surgical therapy for uncomplicated descending aortic dissection. To guide the choice of medical versus surgical therapy for patients with descending (type B) aortic dissection (tear in the descending aorta without involvement of the ascending aorta), multivariate survival analysis was applied to 136 patients admitted to two medical centers between 1975 and 1988 with acute (n = 89) or chronic (n = 47) descending dissection: group 1, all 136 patients; group 2, 106 patients without rupture, pulse loss, or visceral organ compromise; and group 3, 56 patients from group 2 without major cardiac or renal disease (23 surgical and 33 medical). Group 3 medical and surgical subgroups were well matched for baseline characteristics and were potential candidates for either mode of therapy. By Cox model analysis, significant predictors of mortality were pleural rupture, other dissection complications, increasing age, and cardiac disease (all p less than 0.01). Surgical versus medical therapy was not an independent determinant of survival in any of the three groups for acute or chronic dissection. Survival probabilities for all group 3 patients at 1, 5, and 10 years were 0.94, 0.87, and 0.32 (medical) and 0.90, 0.80, and 0.50 (surgical). Despite the limitations of this retrospective study (including the possibility of undefined treatment selection biases), these data suggest that medical or early surgical therapy is associated with equivalent outcome in selected patients with uncomplicated acute or chronic descending aortic dissection.
Autoimmune enteropathy and colitis: is there a generalised autoimmune gut disorder? Children with protracted diarrhoea, circulating enterocyte autoantibodies, and an enteropathy showing features of inappropriate HLA molecule expression on the jejunal crypt epithelium, often present with persistent blood and mucus in their stools. Eight children with autoimmune enteropathy were investigated for the presence of associated colonic disease. Six children with protracted diarrhoea, no circulating autoantibodies, and an enteropathy (in five of them) undergoing colonoscopy were used as control subjects. In all eight patients, but not in the control subjects, there was macroscopic and microscopic evidence of an accompanying colitis of variable severity, thus indicating that a more generalised intestinal disorder was present, which might affect the whole intestine. Aberrant expression of DR molecules on the colonic surface and crypt epithelium was also detected. Autoimmunity may play a role in the colitis.
Gilles de la Tourette syndrome is not linked to D2-dopamine receptor. Gilles de la Tourette syndrome has an important genetic component; the pathophysiology of this disorder may involve the dopamine system. We tested a D2-dopamine receptor (locus DRD2, recognized by probe hD2G1) for genetic linkage with Gilles de la Tourette syndrome. Using a genetic linkage map of the region of DRD2 on the long arm of chromosome 11 and restriction fragment length polymorphism data from a total of four markers (DRD2 itself, D11S84, D11S29, and PBGD), we were able to exclude linkage of this candidate gene and Gilles de la Tourette syndrome in two extended kindreds segregating for Gilles de la Tourette syndrome. This rules out causation of Gilles de la Tourette syndrome by mutation in DRD2 in the kindreds studied under the genetic assumptions we employed; use of the map and multipoint linkage analyses also allowed us to exclude a Gilles de la Tourette syndrome susceptibility locus from a larger genetic region.