123rc/medical_text huggingface dataset:
Interphase cytogenetic analysis detects minimal residual disease in a case of acute lymphoblastic leukemia and resolves the question of origin of relapse after allogeneic bone marrow transplantation. We used in situ hybridization with a probe for the X chromosome to study interphase cells of bone marrow and peripheral blood specimens from a male patient with acute lymphoblastic leukemia characterized by hyperdiploidy, including trisomy X. In a posttreatment bone marrow specimen, which was interpreted as a regenerating bone marrow morphologically and which demonstrated a normal karyotype cytogenetically, trisomy X was found in 16 of 1,000 interphase cells. This finding indicated the presence of leukemic cells that were undetected by conventional morphologic and cytogenetic techniques (ie, minimal residual disease). Cytogenetic studies of a relapse specimen obtained after a sex-mismatched bone marrow transplant showed only a normal female karyotype in each of 40 metaphase cells, suggesting that the relapse occurred in donor cells. However, interphase analysis demonstrated trisomy X in more than 80% of interphase cells and indicated that the relapse was of the original clone and was not a transformation of donor cells. This case illustrates that interphase analysis can be useful as an adjunct to conventional cytogenetic analysis in the detection of minimal residual disease and in the analysis of interphase cells that are not accessible to routine cytogenetic methods. It also illustrates that previously reported instances of relapse of leukemia in donor cells could have been incorrect if supported by cytogenetic data alone.
Relation of serum lipoprotein cholesterol levels to presence and severity of angiographic coronary artery disease. To assess the relation of lipid levels to angiographic coronary artery disease (CAD), lipid profiles were obtained on 125 men and 72 women undergoing diagnostic coronary angiography. CAD, defined as greater than or equal to 25% diameter narrowing in a major coronary artery, was present in 106 men (85%) and 54 women (75%). Multiple regression analyses revealed that only high-density lipoprotein (HDL) cholesterol level in men, and age and total/HDL cholesterol ratio in women, were independently associated with the presence of CAD after adjustment for other risk factors. HDL cholesterol level and age were significantly correlated with both extent (number of diseased vessels) and severity (percent maximum stenosis) of CAD in men. In women, age was the only independent variable related to severity, whereas age and total/HDL cholesterol ratio were related to extent. Of 71 patients with total cholesterol less than 200 mg/dl, 79% had CAD. With multiple regression analyses, HDL cholesterol was the only variable independently related to the presence and severity of CAD in these patients after adjustment for age and gender; extent was significantly associated with age and male gender, and was unrelated to any of the lipid parameters. With use of multiple logistic and linear regression analyses of the group of 197 patients, HDL cholesterol was the most powerful independent variable associated with the presence and severity of CAD after adjustment for age and gender. HDL cholesterol was also an independent predictor of extent. Age was independently associated with each of the end points examined, and was the variable most significantly related to extent. These data add to the growing body of information demonstrating an important association between HDL and CAD.
Cystic mesothelioma of peritoneum: occurrence in a man. We report a case of cystic mesothelioma of the peritoneum in a 54-year-old man in whom cystic masses were removed twice by surgery at an interval of 2 years. The patient died of cardiac arrest shortly after the second operation for a concurrent unresectable colonic cancer. The pathogenesis of the disease is uncertain, but we consider it neoplastic of low grade malignancy.
Performing cytogenetic studies on ascitic, amniotic and hygroma fluid. The importance of obtaining cytogenetic studies on antenatally diagnosed structural malformations is well recognized. In two cases, three fetal compartments were sampled, each resulting in successful cytogenetic studies. Fluid was obtained under ultrasound guidance from amniotic fluid, fetal ascites and cystic hygroma fluid. Fluid from the hygroma itself may be the easiest compartment to analyze.
Contemporary management of a potentially lethal fetal anomaly: a successful perinatal approach to epignathus. Prenatal diagnosis of epignathus (a teratoma originating in the oropharynx) has been reported previously. However, in many of these cases the neonates succumbed to acute respiratory distress secondary to airway obstruction at the time of birth. We describe a case of antepartum diagnosis of epignathus using ultrasonography and magnetic resonance imaging as complementary techniques. The ability to accurately define the fetal anomaly permitted us to plan a unique strategy for peripartum management. After cesarean delivery of the infant from the uterus, the umbilical cord was not clamped and the fetoplacental circulation was left undisturbed. A tracheostomy was then performed, after which the umbilical cord was clamped and the infant was stabilized. Several hours later, a debulking procedure was performed in the operating room to remove the tumor from its attachment to the bony palate. Both mother and infant did well postoperatively. The ability to plan and perform a controlled tracheostomy while the infant remained oxygenated and ventilated proved to be lifesaving in this case.
Clinical spectrum of symptomatic external iliac fibromuscular dysplasia. External iliac fibromuscular dysplasia is a rare and usually asymptomatic disorder. We report eight symptomatic patients seen over a 15-year period and review pathophysiologic mechanisms accounting for the three following distinct lower extremity ischemic sequelae: (1) Emboli--episodic focal digital ischemia (blue toe) was seen in three patients. Resection and primary anastomosis of focal iliac ulcerative fibromuscular dysplasia (one patient) or resection and replacement (two patients) removed the embolic source and relieved the symptoms. (2) Chronic ischemia--gradual onset of full leg claudication in four patients was treated by operative graduated intraluminal dilation in three patients and prosthetic bypass in one. Arteriography subsequently showed a remodeled lumen in the three patients who underwent dilation. (3) Dissection--acute onset leg ischemia resulted from presumed dissection of the external iliac segment. After 4 months of conservative management of antiplatelet agents and exercise, symptoms resolved completely, and arteriogram showed spontaneous restoration of a normal lumen in the dissected segment. The clinical presentation of fibromuscular dysplasia may mimic other arterial processes such as atherosclerosis. Diagnosis is made only by arteriography with specific magnification views of the external iliac arteries and careful surveillance of the renal arteries. Appropriate treatment should be tailored to the clinical presenting symptom. For microembolic disease, resection and replacement are required. For chronic ischemia, intraluminal dilation is generally sufficient and durable and has proved to be a simpler and acceptable alternative to replacement or bypass. In acute dissection, surgical intervention may be deferred if the limb is viable to allow spontaneous healing and remodeling. Persistent symptoms may be the only indication for intervention in this ischemic manifestation of external iliac fibromuscular dysplasia.
Treatment of Wegener's granulomatosis with intermittent high-dose intravenous cyclophosphamide PURPOSE: Concerns regarding the long-term toxicity of daily cyclophosphamide (CP) therapy for the systemic vasculitides have led us to evaluate alternative approaches to treatment in an attempt to achieve comparable efficacy with less toxicity. This study sought to determine the efficacy, toxicity, and immunologic effects of glucocorticoids (GC) and intermittent high-dose intravenous CP ("pulse" CP) in the treatment of 14 patients with Wegener's granulomatosis (WG). PATIENTS AND METHODS: The diagnosis of active WG was supported by a typical clinical presentation and histopathologic findings of vasculitis, granulomatous inflammation, and tissue necrosis. GC treatment was initially provided on a daily basis and later tapered to an alternate-day schedule if vasculitis remained inactive. Pulse CP treatment was initially administered once a month for 6 months. If after 6 months remission had been attained and GC therapy had been discontinued, then pulse CP treatment was given at less frequent intervals thereafter. Treatment and evaluation were provided for participants as inpatients in a clinical research center (National Institutes of Health). RESULTS: Thirteen of 14 patients (93%) initially experienced unequivocal improvement with pulse CP therapy, and seven of 14 (50%) achieved remission within 4 months. However, treatment was associated with significant toxicity in two patients and later relapses in nine patients, so that a total of 79% either failed to achieve sustained remission or were unable to continue therapy. Three of 14 (21%) patients have achieved sustained remissions with the pulse CP protocol and one additional patient (who had a limited exacerbation of WG) continues to receive that therapy after 14 to 22 months (mean 17 months). CONCLUSIONS: The use of pulse CP and GC therapy in 14 patients with WG was associated with a high initial response rate. However, failure to respond initially to treatment, to sustain improvement, or to tolerate continued treatment was noted in 79% of patients within a period of 1 to 22 months. These observations indicate that this particular pulse CP protocol does not achieve a high degree of lasting efficacy.
Capillary haemangioma presenting as a lung pseudocyst. A girl who developed a lung cyst at 24 hours of age during gentle ventilation for respiratory distress syndrome is reported. Instead of resolving as expected of a pseudocyst it continued to expand. Resection at 1 year of age showed a cyst entirely surrounded by capillary haemangioma. Aspiration of this cyst would have been dangerous.
Acute abdominal pain in the elderly. STUDY OBJECTIVES: To determine the incidences of both specific diagnosis and surgical diseases in patients more than 65 years old who present to the emergency department with nontraumatic abdominal pain of less than one week's duration, and to determine the ED staff's ability to diagnose and triage elderly patients with acute abdominal pain. DESIGN: A 12-month retrospective review of all elderly patients who presented to the ED with acute, nontraumatic abdominal pain. SETTING: A regional trauma center serving a predominately rural population in the Midwest. The ED has 55,000 patient visits yearly. MEASUREMENTS AND MAIN RESULTS: Of the 127 patients enrolled, 30 (24%) had no specific diagnosis made in the ED. Biliary tract disease (12%) and small bowel obstruction (12%) were the two most common specific diagnoses. Overall, 53 patients (42%) required surgery, usually during the initial hospitalization. In four cases, the postoperative diagnosis differed significantly from the ED diagnosis. Of the 74 patients (58%) who did not undergo surgery, 51 had follow-up information available. In 14 patients, the follow-up diagnosis differed from the original diagnosis, but most of these changes did not appreciably alter the treatment and outcome. CONCLUSIONS: The incidence of surgical disease is high in elderly patients with acute abdominal pain, and ED staff are able to diagnose and triage these patients accurately.
Exclusion of the Na(+)-H+ antiporter as a candidate gene in human essential hypertension. The primary abnormalities that contribute to the pathogenesis of human essential hypertension are unknown. The known genetic contribution to this disorder suggests the possible use of genetic linkage analysis to test whether specific candidate genes contribute to the pathogenesis of either essential hypertension or intermediate phenotypes. Among such phenotypes, elevated erythrocyte Na(+)-Li+ countertransport (SLC) is the best known, supporting major gene inheritance by pedigree analysis. Striking similarities between SLC and Na(+)-H+ exchange suggest that mutations at the Na(+)-H+ antiporter gene locus (APNH) might result in elevated SLC and contribute to the subsequent pathogenesis of hypertension. We have tested these hypotheses by genetic linkage analysis, with APNH as a candidate gene. By determining genotypes at APNH and flanking loci in pedigrees that support major gene segregation of elevated SLC, we have excluded linkage of APNH and the major SLC locus with a LOD score of -5.91, an odds ratio of almost 1,000,000:1 against linkage. In the analysis of 93 hypertensive sibling pairs, we have further demonstrated that APNH explains none of the variance in SLC in hypertensive individuals (r2 = 6 x 10(-7), p greater than 0.99). Finally, we have directly tested for linkage of APNH to genes predisposing toward hypertension by linkage in hypertensive sibling pairs. Mean allele sharing at APNH is not greater than expected from random assortment in hypertensive siblings (0.92 versus 1.0, p greater than 0.80), and the upper 95% confidence limit of this value (1.04) indicates that mutations at APNH rarely if ever contribute to the pathogenesis of hypertension in this population.
Soleus-specific myopathy induced by passive stretching under local tetanus. Twenty-four adult albino rats were injected with tetanus toxin into the right gastrocnemius muscle and then subjected to sustained dorsiflexion of the right ankle joint for 2 to 14 days. Histologic examinations of the soleus after this procedure showed myopathic changes, characterized by variations in fiber diameters, myonecrosis with opaque fibers, interstitial fibrosis, and small groups of regenerated fibers. Electron microscopy revealed derangement of T-tubules immediately adjacent to the sarcolemma in the early degenerative stage. The size and wet weight of soleus increased compared to that of the control side between 2 and 5 days post-tetanus. Serum GOT, LDH, and creatine kinase (CK) levels were elevated especially in the early degenerative stages. Peri- and endomysial fibrosis developed gradually from about 3 days post-tetanus. Pathomechanisms inducing these changes were discussed.
Peptic ulcer perforation as the presentation of Zollinger-Ellison syndrome. We examined the characteristics of patients with Zollinger-Ellison syndrome who developed a perforation prior to diagnosis to determine whether any clinical features were useful markers of the syndrome. Of 160 patients with Zollinger-Ellison syndrome, perforation occurred prior to the diagnosis being made in 11 (7%). At surgery, perforations were found in the duodenum in six cases and in the jejunum in five. In no case was tumor identified at emergency surgery, and the diagnosis of Zollinger-Ellison syndrome was made only in the postoperative period when excessive gastric secretions were noted. Neither acid output nor serum gastrin concentration were useful predictors for perforation. The patients, six men and five women, were 27-61 years old (median 48) and one had MEN-1. Three patients had no symptoms prior to the perforation. The other eight had symptoms for 1-15 years, with diarrhea occurring in 45% of the cases. Following the diagnosis of Zollinger-Ellison syndrome, patients were given medication to control gastric acid hypersecretion. Eight patients remained well, but the three patients who had had a partial gastrectomy had a complicated course despite medical therapy. Although features of perforation in Zollinger-Ellison syndrome are not specific, jejunal perforation or perforation associated with a history of diarrhea is suggestive of the diagnosis. Serum gastrin should be measured in every case and a partial gastrectomy avoided.
Invasive migration of epidemic Kaposi's sarcoma cells in vitro. Kaposi's sarcoma (KS) is a low grade malignant neoplasm which shows invasive growth and often occurs in immunosuppressed patients with the Acquired Immune Deficiency Syndrome (AIDS; epidemic KS). It is also found in elderly men where it is usually limited to the skin (classic KS). The present study investigated the chemotaxis and invasive migration of epidemic KS cells in vitro and compared them to cells grown from classic KS lesions and to fibroblasts. Epidemic KS cells demonstrated invasive migration through reconstituted basement membrane (Matrigel) as well as through interstitial connective tissue (collagen I) in early passages, whereas fibroblasts did not invade either barrier. Epidemic KS cells in late passages did not show any invasive migration. Following pretreatment with tumour necrosis factor alpha (TNF-alpha) there was no enhanced migration through the Matrigel and collagen I for epidemic KS cells, whereas classic KS cells showed an increased migration through the type I collagen barrier.
Operation Everest II: ventilatory adaptation during gradual decompression to extreme altitude. To assess the ventilatory adaptation during gradual ascent to extreme altitude, we studied seven healthy males as part of the 40 d simulated ascent of Mt. Everest in a hypobaric chamber. We measured resting ventilation (VE, l.min-1), arterial oxygen saturation (SaO2%), the ventilatory response to oxygen breathing, isocapnic hypoxic ventilatory response (HVR), and hypercapnic ventilatory response (HCVR) at sea level prior to the ascent (760 torr), 14,000 feet (428 torr), 24,000 feet (305 torr), and within 24 h of descent (765 torr). VE increased from 9.3 +/- 1.1 l.min-1 at 760 torr to 23.4 +/- 1.3 l.min-1 at 305 torr and remained elevated at 14.7 +/- 0.7 l.min-1 after descent. Oxygen breathing decreased VE by 9.6 +/- 1.3 l.min-1 at 305 torr. Isocapnic HVR (expressed as a positive slope of VE/SaO2, l.min-1.%SaO2(-1) increased from 0.18 +/- 0.07 at 760 torr to 0.34 +/- 0.11 and 0.38 +/- 0.5 at 428 torr and 305 torr (P less than 0.05) respectively. HVR was elevated further upon return to sea level (0.8 +/- 0.09, P less than 0.05). HCVR (S = VE/PETCO2, l.min-1.torr-1) increased from sea level (S = 4.4 +/- 0.09) to 305 torr (S = 18.7 +/- 3.5, P less than 0.01) and remained elevated upon return to sea level (S = 10.7 +/- 4.6, P less than 0.001). This study is the first to investigate the ventilatory response to such extreme altitude and so soon after descent and shows that hypoxic and hypercapnic responses increase during prolonged progressive hypoxic exposure and remain significantly elevated from pre-ascent levels immediately upon descent.
Alkalinisation of prilocaine for intravenous regional anaesthesia. Suitability for clinical use. Eighty unpremedicated patients undergoing day-case hand surgery under intravenous regional anaesthesia were randomly allocated to receive, in a double-blind study, either 40 ml 0.75% prilocaine hydrochloride, with 5 ml 8.4% sodium bicarbonate or 5 ml 0.9% saline. The alkalinised group had significantly less pain on injection (p = 0.0045), during surgery (p = 0.0074) and 5 minutes after the tourniquet was deflated (p = 0.0027). The time elapsed between insertion of the block and commencement of surgery was not affected.
Expression of transcobalamin II receptors by human leukemia K562 and HL-60 cells. Plasma membrane receptors for the serum cobalamin-binding protein transcobalamin II (TCII) were identified on human leukemia K562 and HL-60 cells using immunoaffinity-purified human TCII labeled with [57Co]cyanocobalamin. The Bmax values for TCII receptors on proliferating K562 and HL-60 cells were 4,500 and 2,700 per cell, respectively. Corresponding dissociation constants (kd) were 8.0 x 10(-11) mol/L and 9.0 x 10(-11) mol/L. Rabbit TCII also bound to K562 and HL-60 cells but with slightly reduced affinities. Calcium was required for the binding of transcobalamin II to K562 cells. Brief treatment of these cells with trypsin resulted in almost total loss of surface binding activity. After removal of trypsin, surface receptors for TCII slowly reappeared, reaching pretrypsin treatment densities only after 24 hours. Reappearance of receptors was blocked by cycloheximide. TCII receptor densities on K562 and HL-60 cells correlated inversely with the concentration of cobalamin in the culture medium. This suggests that intracellular stores of cobalamin may affect the expression of transcobalamin receptors. Nonproliferating stationary-phase K562 cells had low TCII receptor densities (less than 1,200 receptors/cell). However, the density of TCII receptors increased substantially when cells were subcultured in fresh medium. Up-regulation of receptor expression coincided with increased 3H-thymidine incorporation, which preceded the resumption of cellular proliferation as measured by cell density. In the presence of cytosine arabinoside, which induces erythroid differentiation, K562 cells down-regulated expression of TCII receptors. When HL-60 cells were subcultured in fresh medium containing dimethysulfoxide to induce granulocytic differentiation, the up-regulation of TCII receptors was suppressed. This event occurred well before a diminution of 3H-thymidine incorporation and cessation of proliferation. Thus, changes in the regulation of expression of TCII receptors correlate with both the proliferative and differentiation status of cells.
Infertility and eating disorders. Sixty-six consecutive infertility clinic patients were prospectively screened with the 26-item Eating Attitudes Test and a study questionnaire. Women identified as being at high risk for an eating disorder were then interviewed to confirm or refute the diagnosis. A total of 7.6% of infertility clinic women were found to suffer from anorexia nervosa or bulimia nervosa. If eating disorders not otherwise specified were included, a total of 16.7% of infertility patients were found to suffer from an eating disorder. Among infertile women with amenorrhea or oligomenorrhea 58% had eating disorders. Because women often fail to disclose eating disorders to their gynecologists and may appear to be of normal weight, it is recommended that a nutritional and eating disorder history be taken in infertility patients, particularly those with menstrual abnormalities. It has previously been shown that disorder eating and nutrition can affect menstruation, fertility, maternal weight gain, and fetal well-being.
Crohn's disease and adenocarcinoma of the intestinal tract. Report of four cases. Four patients with intestinal adenocarcinoma complicating Crohn's disease are reported. The youngest of the four patients was a 21-year-old female with a 9-year history of Crohn's disease of the terminal ileum as well as of the entire colon. She developed mucus-producing moderately differentiated adenocarcinoma in the cecum. Of the remaining three patients with Crohn's disease, one presented an adenocarcinoma in the ascending colon, one in the rectum and the remaining one in the duodenum. All three colorectal adenocarcinomas originated in areas of high-grade dysplasia and all four in areas with chronic transmural inflammation. The review of the literature indicates that a total of 174 small and large bowel cancers occurring in Crohn's disease have been recorded (including the four reported herein). The vast majority of the reported cases have been found in the North American subcontinent. Only in a few instances were bowel adenocarcinoma and Crohn's disease observed in the European continent. It is therefore remarkable that three of our four cases were seen within a period of 12 months. Interestingly, six patients having colorectal adenocarcinoma in association with Crohn's disease were recently reported from a single hospital in England. The question therefore arises whether our cases and those reported recently from England are unrelated and merely coincidental or whether carcinomas are now also affecting European CD patients. If the latter is the case, the surveillance policy for patients with CD should be reconsidered at this hospital.