123rc/medical_text huggingface dataset:
Progress in the search for genetic linkage with Tourette syndrome: an exclusion map covering more than 50% of the autosomal genome. Gilles de la Tourette syndrome is a neuropsychiatric disorder with an autosomal dominant mode of inheritance and reduced penetrance at a single genetic locus. Several research groups have genetic linkage studies underway to detect the chromosomal location of the gene that predisposes for this disorder. Strong and clear evidence of linkage has not yet been produced for Tourette syndrome. This paper presents an overview of the methods and progress of the groups centered at Yale University and Erasmus University in excluding linkage from a large portion of the genome. Our labs have screened 228 genetic marker loci for linkage with a gene for this disorder in a series of affected families in the United States, Canada, The Netherlands, and Norway. More than 50% (and perhaps as much as 66%) of the autosomal genome has now been excluded on the assumption that genetic heterogeneity is not an important factor in the Tourette syndrome pedigrees pooled for this summary.
Association between hypothermia and mortality rate of premature infants--revisited. The incidence of hypothermia (axillary temperature less than 35 degrees C) on admission of an infant to a neonatal intensive care unit was retrospectively analyzed in 559 very-low-birth-weight (less than 1500 gm) newborn infants. The smaller infants were at greater risk of hypothermia. Only in the larger neonates was mortality related to hypothermia, which suggests that this known association bears little cause-effect relationship.
Interleukin-2 does not attenuate hypertension in spontaneously hypertensive rats. It was recently reported that interleukin-2, when administered as a single bolus injection (5,000 units/kg), could prevent the development of hypertension in young spontaneously hypertensive rats and lower blood pressure to normotensive levels in spontaneously hypertensive rats with established hypertension. Consequently, efforts were made to duplicate this finding. Male spontaneously hypertensive rats (35 days old) were injected subcutaneously with 50,000 units/kg (3,500 units/rat) of recombinant interleukin-2 (Amgen) and had systolic blood pressure measured twice weekly by the tail-cuff technique. Systolic blood pressure in the interleukin-2-treated group was not significantly different from the vehicle-treated control group at any time point over 32 days of follow-up. A second injection of recombinant interleukin-2 (5,000 units/kg) was administered 32 days after the first injection. Again, no reduction in blood pressure was observed in the interleukin-2-treated group over an additional 38 days. Mean arterial pressure (+/- SEM) measured via intra-arterial cannula in conscious rats at age 105 days (38 days after the second treatment) was 168.5 +/- 3.5 mm Hg in interleukin-2-treated spontaneously hypertensive rats and 170.3 +/- 3.6 mm Hg in vehicle-treated controls. Both recombinant interleukin-2 preparations conformed to their respective manufacturer's indicated specific activity as determined by the ability of the interleukin-2 to induce proliferation of the interleukin-2-dependent cell line HT-2. Thus, this study demonstrated that interleukin-2 was ineffective in preventing or attenuating hypertension in spontaneously hypertensive rats.
National General Practice Study of Epilepsy: recurrence after a first seizure In the National General Practice Study of Epilepsy 564 patients classified as having definite seizures have been followed up for 2-4 years. 67% (95% confidence interval 63-71%) had a recurrence within 12 months of the first seizure, and 78% (74-81%) had a recurrence within 36 months. Seizures associated with a neurological deficit presumed present at birth had a high rate of recurrence (100% by 12 months), whereas seizures that occurred within 3 months of an acute insult to the brain, such as head injury or stroke, or in the context of an acute precipitant such as alcohol, carried a much lower risk of recurrence (40% [29-51%] by 12 months). Other factors affecting the risk of recurrence were age-the highest risk being for patients under the age of 16 (83% [77-89%] by 36 months) or over the age of 59 (83% [76-90%] by 36 months-and type of first seizure-the risk of recurrence being much higher for patients with simple partial or complex partial seizures (94% [90-99%] by 36 months) than for those with generalised tonic clonic seizures (72% [67-77%] by 36 months).
Normal proprioceptive trigeminal afferents in patients with Sjogren's syndrome and sensory neuronopathy. A pure sensory neuropathy due to neuronal damage in the gasserian and spinal ganglia has been described in patients with Sjogren's syndrome. Conventional electromyographic (EMG) studies can demonstrate the selective involvement of the sensory pathways but they do not provide definite evidence for the site of the lesion. Noting that the trigeminal sensory neurons carrying cutaneous and muscular afferents are differentially located in the gasserian and mesencephalic nuclei, respectively, we carried out an electrophysiological study of the trigeminofacial and trigeminotrigeminal reflexes in 5 patients with Sjogren's syndrome and pure sensory neuropathy, in 10 patients with sensory-motor neuropathies of other causes, and in 10 healthy subjects. Our results show that patients with Sjogren's syndrome and pure sensory neuropathy who exhibited abnormal blink reflexes and an abnormal, cutaneous-induced masseter silent period had normal jaw jerks, whereas patients with sensory-motor neuropathies who exhibited abnormal cutaneous responses had abnormal jaw jerks. These findings suggest that the lesion in pure sensory neuropathy involves damage to the neurons of the gasserian ganglia and not to the trigeminal axons, since an axonal lesion would be expected to involve the large axons from muscle spindle receptors.
The hazards of surgical glove dusting powders. Surgical contaminants of many kinds, including glove powder, constitute a source of formation of granulomas. This is particularly well-documented in the peritoneal cavity ("starch peritonitis"), but has been documented in most anatomic sites. The production of starch-free gloves should remove this hazard, but the surgeon should remain aware that most particulate substances introduced into the body inevitably set up an inflammatory response.
Gastric epithelium in the duodenum: its association with Helicobacter pylori and inflammation. Duodenal biopsy specimens from 471 adults and 47 children were examined to determine the prevalence and distribution of gastric epithelium in the duodenal bulb in relation to age, gender, gastroduodenal inflammation, smoking, alcohol and consumption of nonsteroidal anti-inflammatory drugs (NSAID). Gastric metaplasia was present in the anterior wall duodenal biopsy specimen in 31%, was significantly less common in patients under 17 than in adults, and was more common in males than females. In sixty two adults who underwent multiple radial duodenal biopsy gastric metaplasia was randomly distributed around the duodenal circumference; sixty three per cent of the patients with gastric metaplasia found on multiple biopsy were detected by just the anterior biopsy. Gastric metaplasia was not obviously associated with alcohol, cigarette, or NSAID consumption. While the presence of gastric metaplasia was associated with adulthood, male sex, and low fasting gastric juice pH, its extent was associated with active duodenitis and Helicobacter-associated gastritis. On logistic regression, gastric metaplasia in the duodenum and gastric Helicobacter pylori were independent predictors of active duodenitis, but were not significantly associated with inactive duodenal inflammation. H pylori was observed in duodenal biopsy specimens from 32 patients, all with active duodenitis; bacteria were present only on foci of gastric metaplasia, and were more likely to be seen when the metaplasia was extensive. It is proposed that inflammatory injury to the duodenal mucosa by H pylori may stimulate the development of further gastric metaplasia, and that the area of duodenum susceptible to colonisation with H pylori may therefore increase progressively until mucosal integrity is compromised and ulceration supervenes.
Deep venous thrombosis. Implications after open heart surgery. We reviewed the cases of 10,638 cardiac surgical patients to determine the incidence of deep vein thrombosis (DVT) after open heart surgery (OHS). Seventy-seven patients (0.7 percent) had DVT. Group 1 included 36 patients who had DVT without pulmonary embolism (PE). Occurrence was equal in either leg. Anticoagulation with heparin and warfarin sodium (Coumadin) was employed as treatment. Extension of hospital stay was 10.8 days. Group 2 consisted of 41 patients who experienced PE 9.9 days after OHS. Sixteen patients had known DVT and were receiving heparin. In 25 patients, PE was the first event. Risk factors for PE included perioperative myocardial infarction (16 percent), atrial fibrillation (41 percent); blood type A (70 percent) (p less than 0.05), and coronary artery bypass graft (CABG) (98 percent). Twenty-four patients were treated with anti-coagulation alone. Six died of recurrent PE; mortality was 25 percent. Seventeen patients received anticoagulation plus inferior vena cava (IVC) interruption using a Hunter balloon. There were no recurrent PEs and there was one death from myocardial infarction (6 percent). Deep vein thrombosis and PE are rare complications of OHS. Routine prophylaxis with either heparin or warfarin is unnecessary. Patients with DVT, atrial fibrillation (AF), and perioperative myocardial infarction are at high risk of PE. Aggressive diagnosis to identify major venous thrombi along with anticoagulation and early consideration of IVC interruption are recommended for these patients. Patients who have undergone OHS and who have PE are at an unusually high risk for recurrent PE with death and are more safely treated with IVC interruption and anticoagulation than anticoagulation alone.
Management of the acute abdomen complicating oral anticoagulation therapy. Acute abdominal pain in the patient receiving oral anticoagulants poses a difficult diagnostic and therapeutic challenge. We describe two cases of peritonitis requiring laparotomy in anticoagulated patients, and review 49 similar case reports from the world literature. These patients were usually explored for signs of bowel obstruction. At operation, the intestine often appeared infarcted, but pathologic examination commonly revealed intramural hematomata. In contrast, we present microscopic evidence of hemorrhagic cecal infarction complicating oral anticoagulation therapy in one patient. Intramural intestinal hemorrhage is the most common cause of acute abdominal pain in the anticoagulated patient who undergoes laparotomy. In addition to intramural hemorrhage, 14 per cent of patients had coexistent volvulus, appendicitis, intestinal wall disruption or intestinal infarction. We conclude that anticoagulated patients with suspected intramural intestinal hemorrhage may have severe intraabdominal pathology requiring operation. Therefore, operation is mandatory for patients who fail to improve after a short course of expectant management.
Surfactant replacement therapy with a single postventilatory dose of a reconstituted bovine surfactant in preterm neonates with respiratory distress syndrome: final analysis of a multicenter, double-blind, randomized trial and comparison with similar trials. The Surfactant-TA Study Group. The effects of a single dose of surfactant TA were assessed in premature neonates (birth weight 750 to 1749 g) with respiratory distress syndrome (RDS) in a multicenter, double-blind, randomized clinical trial. Only neonates with surfactant deficiency and without ultrasonographic evidence of intracranial hemorrhage greater than or equal to grade II were enrolled. Fifty-four patients received surfactant (100 mg of phospholipid per kilogram of body weight) and 46 patients received an air placebo within 8 hours of life. Treatment with this surfactant resulted in a significant reduction in the severity of RDS with a concomitant increase in the proportion of neonates with mild disease. The frequency of pulmonary interstitial emphysema and of pneumothorax was significantly lower in treated neonates compared with control neonates (2% vs 26%, P = .0008, and 7% vs 39%, P = .0004, respectively). The frequency of intracranial hemorrhage was significantly lower in the surfactant group compared with the control group (20% vs 54%, P = .0008) and was also reduced for the smallest neonates in the surfactant group (13% vs 73%, P = .00008). When categorized according to severity of intracranial hemorrhage and severity of bronchopulmonary dysplasia, the surfactant group was at a significant advantage (adjusted Cochran-Mantel-Haenszel X2 = 10.72, P less than .001 and X2 = 4.43, P = .036, respectively). The proportion of neonates surviving without intracranial hemorrhage and/or bronchopulmonary dysplasia was 63% in the surfactant group vs 26% in the control group (P = .0004); as for the smallest neonates, it was 58% in the surfactant group vs 4% in the control group (P = .0002). There were no differences between the groups with respect to the frequency of patent ductus arteriosus (46% vs 37%), pulmonary hemorrhage (6% vs 7%), necrotizing enterocolitis (0% vs 2%), sepsis (4% vs 2%), retinopathy of prematurity (13% vs 22%), or death (15% vs 22%). It is concluded that treatment with the single-dose surfactant regimen used in this study reduces the severity of respiratory distress during the 48 hours after treatment and decreases the major pulmonary morbidity and intracranial hemorrhage in premature neonates with RDS. Further studies are needed to determine whether (1) treatment at birth or as soon as after RDS is diagnosed and (2) the use of multiple dose of this surfactant would result in any additional benefits.
Management of gastroenteritis. Childhood gastroenteritis remains a common reason for admission to British paediatric units, although the severity of the disease appears to be diminishing in recent years. We studied 215 infants and children with gastroenteritis admitted consecutively to four paediatric units in South Wales in order to determine the severity of the disease, the organisms isolated, the frequency of complications, and the adequacy of management before admission. Stool pathogens were isolated in 125 (58%) patients (viruses in 65, bacteria in 30, and protozoa in 19, with multiple infection found in 11). There was a low incidence of morbidity and complications, but prolonged diarrhoea (postenteritis syndrome) was present in 24 (11%) cases and 77 (36%) had received inappropriate treatment before admission. Contemporary gastroenteritis is thus a relatively mild disease in the acute phase, but management before admission to hospital is often inadequate, and prolonged diarrhoea may be a feature in a considerable number of cases.
Detection of breakpoint cluster region- negative and nonclonal hematopoiesis in vitro and in vivo after transplantation of cells selected in cultures of chronic myeloid leukemia marrow. Philadelphia (Ph1) chromosome-positive clonogenic progenitors usually disappear within 4 to 6 weeks in long-term cultures established from the marrow of patients with chronic myeloid leukemia (CML). In contrast, coexisting chromosomally normal hematopoietic cells are relatively well maintained. Thus, even though normal cells are initially undetectable, they may become the predominant population. Recently, we have begun to explore the potential of such cultures as a strategy for preparing CML marrow for autografting, and based on cytogenetic studies of the differential kinetics of Ph1-positive and Ph1-negative clonogenic cells, have chosen a 10-day period in culture to obtain maximal numbers of selectively enriched normal stem cells. Here we present the results of molecular analyses of the cells regenerated in vivo for the initial three CML patients to be treated using this approach by comparison with the differentiated cells generated by continued maintenance of an aliquot of the autograft in vitro (using a slightly modified culture feeding procedure to enhance the production and release of cells into the nonadherent fraction after 4 weeks) for the one patient whose genotype made molecular analysis of clonality status also possible. These analyses showed that cells with a rearranged breakpoint cluster region (BCR) gene were not detectable by Southern blotting in either in vitro or in vivo populations of mature cells that might be assumed to represent the progeny of primitive cells present at the end of the initial 10 days in culture. Production of BCR-negative cells was also shown to be temporally correlated with the appearance of nonclonal hematopoietic cells both in culture and in vivo. These findings provide support for the view that prolonged maintenance of CML marrow cells in long-term culture may allow molecular characterization of both the BCR-genotype and clonality status of cells with in vivo regenerative potential.
Microheterogeneity of acute phase proteins in the differentiation of polymyalgia rheumatica from polymyositis. We studied an alpha-1-acid glycoprotein (AGP) and an alpha-1-antichymotrypsin (ACHT) microheterogeneity in sera of patients with polymyalgia rheumatica (PMR), giant cell arteritis (GCA/PMR), polymyositis/dermatomyositis (PM/DM) and healthy individuals by affinity electrophoresis with concanavalin A (Con-A) as the ligand. Our results are expressed as reactivity coefficients. The mean of AGP reactivity coefficients (AG-RC +/- SD) in PMR (0.92 +/- 0.17) and GCA/PMR (0.91 +/- 0.12) were significantly lower compared with the mean AG-RC in patients with PM/DM (1.48 +/- 0.52) as well as in healthy individuals (1.34 +/- 0.9). Moreover, an additional microheterogeneous form of AGP was noted in patients with PM/DM. In parallel, we also found that the mean of ACHT reactivity coefficients (AC-RC +/- SD) were lower in patients with PMR (2.94 +/- 1.24) and GCA/PMR (1.66 +/- 0.16) compared with healthy individuals (3.92 +/- 1.17). The mean of AC-RC in patients with PM/DM (6.74 +/- 4.35) was significantly higher than in patients with PMR and GCA/PMR as well as in healthy individuals. Our results show that the changes in reactivity of AGP and ACHT with Con-A are useful diagnostic markers for the differentiation of PMR and GCA/PMR from PM/DM.
Use of the Collings knife electrode for percutaneous access in difficult endourology cases. Percutaneous endourological techniques for the removal of upper urinary tract calculi and for the closed treatment of ureteropelvic junction obstruction are well described. These techniques are dependent on satisfactory percutaneous access and nephrostomy tract dilation. We used the Collings knife electrode for the creation of a nephrostomy tract in 17 patients (19 renal units) with difficult percutaneous access due to scarification, or the inability to advance a guide wire sufficiently for stabilization and dilation by conventional means. A nephrostomy tract was established successfully in all 19 procedures requiring an average of 12 minutes. Two major complications occurred that required blood transfusion and an open operation. Endourological treatment was successful in the remaining 17 cases. We believe that this technique provides an alternative to an open operation when standard access and dilation methods for endourological procedures are unsuccessful.
Histochemical demonstration of 5'-nucleotidase activity in inflammatory muscle disease. Using a histochemical method, 5'-nucleotidase activity was investigated in 80 muscle biopsy specimens, including specimens from eight patients with muscular dystrophy, 18 with nonspecific type II fiber atrophy, 15 with polymyositis, and 29 histologically normal controls. An interstitial reaction for 5'-nucleotidase was associated with an inflammatory infiltrate in 19 of 21 positive cases. Of the 15 cases of polymyositis, 14 showed an extensive interstitial reaction surrounding most of the myofibers and extending well away from the areas infiltrated by inflammatory cells. The extensive nature of this reaction makes 5'-nucleotidase activity a useful adjuvant in the diagnosis of inflammatory muscle disease.
The impact of right ventricular infarction on the prevalence of ventricular arrhythmias during acute inferior myocardial infarction. To determine the impact of RV infarction on the prevalence and complexity of ventricular arrhythmias during inferior AMI, 57 patients with no prior MI were studied by 24-hour Holter monitoring on the first and tenth days of AMI. Based on radionuclear studies, patients were allocated into two groups: (1) group A, 21 patients (37 percent) with normal RVEF (greater than or equal to 40 percent); and (2) group B, 36 patients (63 percent) with depressed RVEF (less than 40 percent). There were no significant differences between the groups regarding age and LVEF. Values of RVEF were 47 +/- 6 percent and 31 +/- 6 percent, respectively (p less than 0.05). The RVEF had no influence on the prevalence and complexity of early and late arrhythmias. Stratification of patients in group B into two subgroups based on the extent of RV dysfunction did not reveal any differences in the occurrence of all forms of ectopy (when both groups were matched to group A). Therefore, patients with inferior AMI, with or without RV infarction, have a similar prevalence of arrhythmias. Ventricular ectopic beats may be related to the severity and spread of LV involvement, rather than to RV dysfunction.
Human central nervous system primitive neuroectodermal tumor expressing nerve growth factor receptors: CHP707m. A primitive neuroectodermal tumor (PNET) presented as a cerebral hemispheric mass in a 33-year-old man. Bone marrow metastases were discovered 11 months later. A cell line (CHP707m) was derived from these metastases. In culture, the cells showed features of neuronal differentiation, forming short neurites and synthesizing low-molecular-weight neurofilament protein. Northern blotting showed the tumor cells express nerve growth factor (NGF) receptor messenger RNA, and fluorescence-activated cell-sorting demonstrated NGF receptors on the cell surface. Western blotting showed CHP707m NGF receptors are truncated. The receptors are functional; they bind iodine 125-labeled mouse NGF with an affinity of 1.6 x 10(-9) M, and short-term treatment with NGF induces expression by the tumor cells of the proto-oncogene, c-fos. Although CHP707m is the first central nervous system PNET cell line proven to express NGF receptors, immunohistological survey of tissue sections prepared from human central nervous system PNETs showed that 13 of 35 contained NGF receptor-positive tumor cells. Thus, more than one-third of such tumors might be responsive to the effects of NGF.
Urothelial grafts in mice. Mouse bladder epithelium has been successfully transplanted to the bladders of syngeneic mice and has survived for at least twenty weeks. The fate of the transplanted tissue was followed using a fluorescein label. The recipient bladders were prepared by stripping the urothelium either by a surgical or a chemical method. The possibility of adopting a comparable technique for the treatment of early bladder cancer in man is discussed.
Epithelial cyst of the fourth ventricle. Case report. A case of epithelial cyst in the fourth ventricle of a 4-year-old child is described. A single epithelial layer with a clear basement membrane lining the cyst wall was observed. There were no prominent histological findings to suggest a pathogenesis for this cyst based on immunohistochemical or ultrastructural studies; however, the cyst fluid contained significant amounts of carcinoembryonic antigen. It is considered that the epithelial layer lining the cyst wall was possibly of endodermal origin.