Melricflash/CW_MedAbstractsAlt huggingface dataset:
Uniparental paternal disomy in Angelman's syndrome. Angelman's syndrome and Prader-Willi syndrome are both causes of mental retardation with recognisable, but quite different, clinical phenotypes. Both are associated with deletions of chromosome 15q11-13, of maternal origin in Angelman's and paternal in Prader-Willi. Prader-Willi can arise by inheritance of two chromosomes 15 from the mother and none from the father (uniparental maternal disomy). In 2 patients with Angelman's syndrome we found evidence of uniparental paternal disomy. The phenotypic effects of maternal and paternal disomy of chromosome 15 are very different and inheritance of two normal 15s from one parent does not lead to normal development--strong evidence in man for genomic imprinting, in which the same gene has different effects dependent upon its parental origin. 

Category: nervous system diseases
Coronary morphology after percutaneous directional coronary atherectomy in humans: autopsy analysis of three patients. The morphologic basis of angiographically successful percutaneous directional atherectomy and subsequent restenosis in human coronary arteries is unknown. The clinical and pathologic features of three patients who died after coronary atherectomy are described. Tissue fragments obtained with atherectomy demonstrated atheromatous and fibroproliferative intima, media and adventitia. At autopsy, treated vascular segments (from the left anterior descending artery in two patients and a vein graft in one patient) demonstrated discrete defects in the vascular wall. Defects extending into atheroma, media or adventitia corresponded with the presence of these tissues in the atherectomy specimens. Tissues were otherwise not disrupted in the manner associated with balloon angioplasty. Acute mural thrombus deposition was evident in the resection zone in one patient. Late findings included fibroproliferative intimal tissue extending from the resected areas into the vascular lumen. In one patient intimal hyperplasia was sufficient to narrow the vascular lumen by 82% and was implicated in subsequent myocardial ischemia and infarction. The study indicates that 1) the vascular injury associated with atherectomy is distinct from that associated with balloon angioplasty, 2) acute mural thrombus deposition may occur even with resection limited to the intima, and 3) intimal hyperplasia may develop in regions treated with atherectomy and may be associated with late myocardial ischemia and infarction. 

Category: general pathological conditions
Expression of X protein and hepatitis B virus replication in chronic hepatitis. The X protein can act on the enhancer of hepatitis B virus in an in vitro system and elevate the transcriptional level of hepatitis B virus. However, because no relationship had been reported between X protein expression and hepatitis B virus replication in patients with chronic hepatitis B, we focused on its expression in the liver in comparison with markers of hepatitis B virus replication. Liver biopsy samples and sera from 59 carriers with HBsAg were examined immunohistochemically for X protein using rabbit IgG against recombinant X protein. There was a significant difference in the serum hepatitis B virus DNA level between X protein-positive and -negative patients (p less than 0.001). Serum pre-S1 and pre-S2 antigens were also measured quantitatively by enzyme immunoassay using monoclonal antibodies specific against each antigen. The titers of pre-S1 antigen in patients positive for X protein were significantly higher (p less than 0.001) than those of the X protein-negative patients (3.02 +/- 0.99 vs. 2.00 +/- 0.59, respectively). Similarly, the titers of pre-S2 antigen were 2.98 +/- 0.91 vs. 1.94 +/- 0.54, respectively (p less than 0.001). The rate of positivity of the X protein was higher (38 of 49; 77.6%) in the replicative group (serum HBeAg, serum hepatitis B virus DNA or HBcAg in liver positive) compared with that observed in the nonreplicative group (3 of 10; 30%--serum HBeAg, serum hepatitis B virus DNA and HBcAg in liver negative) (p less than 0.01). 

Category: general pathological conditions
Acute silicosis due to inhalation of a domestic product. A 20-yr-old woman with no history of pulmonary disease presented with acute dyspnea and fever. After various investigations and treatments the symptoms persisted and a lung biopsy was performed. Pathologic analysis disclosed the presence of silicotic crystals within lung tissue and mediastinal lymph nodes. The patient admitted having repeatedly inhaled a domestic scouring powder rich in silica during the preceding 6 months. This is the first report of acute pulmonary silicosis developing after exposure to a common household product. 

Category: general pathological conditions
Angiodysplasia: characterization, diagnosis, and advances in treatment. Gastrointestinal bleeding accounts for 2% of all adult hospital admissions each year. Angiodysplasia is one of the most frequently reported causes of lower gastrointestinal bleeding. In 80% of patients with bleeding angiodysplasia, the bleeding will stop spontaneously, but will often recur. Although angiography may detect bleeding in 86% of actively bleeding patients, the bleeding rate must be at least 0.5 mL/min. The treatment of choice for control of bleeding has been resection of the suspected segment of bowel, but this procedure is associated with a 10% rebleeding rate and 7% to 8% mortality. Superselective catheterization with infusion of vasoconstrictors has been used to control bleeding, but effects are short-lived. Superselective embolization occludes an offending vessel, but is difficult to perform accurately and is associated with risk of infarction. Laser photocoagulation controls bleeding in 84% of patients, with a 6% complication rate. This method of controlling bleeding offers distinct advantages, especially for the hemodynamically unstable patient. Except for cases in which surgical resection is indicated, Nd:YAG laser photocoagulation is the safest, least invasive, and probably most effective means of treating angiodysplasia. 

Category: digestive system diseases
Prognosis and prognostic factors of retinal infarction: a prospective cohort study. OBJECTIVE--To determine the prognosis and adverse prognostic factors in patients with retinal infarction due to presumed atheromatous thromboembolism or cardiogenic embolism. DESIGN--Prospective cohort study. SETTING--University hospital departments of clinical neurology. PATIENTS--99 patients with retinal infarction, without prior stroke, referred to a single neurologist between 1976 and 1986 and evaluated and followed up prospectively until death or the end of 1986 (mean follow up 4.2 years). INTERVENTIONS--Cerebral angiography (55 patients), aspirin treatment (37), oral anticoagulant treatment (eight), carotid endarterectomy (13), cardiac surgery (six), and peripheral vascular surgery (two). MAIN OUTCOME MEASURES--Death, stroke, coronary events, contralateral retinal infarction; survival analysis confined to 98 patients with retinal infarction due to presumed artheromatous thromboembolism or cardiogenic embolism (one patient with giant cell arteries excluded), and Cox's proportional hazards regression analysis, including age as a prognostic factor. RESULTS--During follow up 29 patients died (21 of vascular causes and eight of non-vascular or unknown causes), 10 had a first ever stroke, 19 had a coronary event, and only one developed contralateral retinal infarction. A coronary event accounted for more than half (59%) of the deaths whereas stroke was the cause of only one death (3%). Over the first five years after retinal infarction the actuarial average absolute risk of death was 8% per year; of stroke 2.5% per year (7.4% in the first year); of coronary events 5.3% per year, exceeding that of stroke; and of stroke, myocardial infarction, or vascular death 7.4% per year. Prognostic factors associated with an increased risk of death were increasing age, peripheral vascular disease, cardiomegaly, and carotid bruit. Adverse prognostic factors for serious vascular events were increasing age and carotid bruit for stroke, and increasing age, cardiomegaly, and carotid bruit both for coronary events and for stroke, myocardial infarction, or vascular death. CONCLUSIONS--Patients who present with retinal infarction due to presumed atherothromboembolism or cardiogenic embolism are at considerable risk of a coronary event. The risk of stroke, although high, is not so great. Not all strokes occurring after retinal infarction relate directly to disease of the ipsilateral carotid system, although this is probably the most common cause. Few patients experience contralateral retinal infarction. Non-arteritic retinal infarction should be diagnosed or confirmed by an ophthalmologist, and the long term care of patients with the condition should involve a physician who has an active interest in managing vascular disease. 

Category: cardiovascular diseases
Progression of stage T1 bladder tumors after intravesical bacillus Calmette-Guerin [published erratum appears in J Urol 1991 Apr;145(4):840] Of 221 patients with superficial bladder tumors (stages Ta, Tis and T1) treated by transurethral resection and an initial 6-week course of intravesical bacillus Calmette-Guerin (BCG) 195 were evaluated after 3 months for local response. Of these patients 17 (8.7%) had a stage T1 tumor, of whom 14 (82%) subsequently had muscle invasion (7), uncontrolled local disease (6) or metastasis (1). The median interval to progression was 8.4 months, which was significantly (p = 0.0001) less than among the other 178 patients with a nonstage T1 lesion or no tumor found at 3 months, of whom 44 (25%) had progression (median more than 5 years). These data suggest that patients with stage T1 tumor 3 months after BCG therapy require additional therapy other than simple tumor resection and meticulous followup. 

Category: neoplasms
The influence of neutralizing heparin after carotid endarterectomy on postoperative stroke and wound hematoma. The influence of neutralizing or not neutralizing heparin after carotid endarterectomy on postoperative stroke and wound hematoma is unknown. During the past 6 years some of the authors frequently gave protamine sulfate to neutralize heparin, whereas others did not unless a patch was used or wound hemostasis was not readily obtained. To determine the influence of protamine sulfate on stroke and wound hematoma the records of 697 patients having a carotid endarterectomy from January 1984 to September 1989 were reviewed. Protamine sulfate was given to 328 patients, and 369 did not receive protamine sulfate. The incidence of stroke in the two groups was 1.8% (n = 6) and 2.7% (n = 10), respectively, and the difference was not significant (p = 0.6019). Excluding three strokes that could not be related to neutralizing or not neutralizing heparin, the difference remained insignificant (1.5% vs 2.2%, p = 0.7290). The incidence of wound hematoma was 1.8% (n = 6) in patients given protamine sulfate and 6.5% (n = 24) in patients not given protamine sulfate, and this difference was significant (p = 0.0044). The difference remained significant when three hematomas not related to protamine sulfate were excluded (1.2% vs 6.2%, p = 0.0013). In patients not given protamine sulfate draining the wound lessened the incidence of wound hematoma (4.4% vs 8.6%), but this difference was not statistically significant (p = 0.1475). In patients given protamine sulfate the dose of protamine sulfate (15 to 45 mg vs 50 to 75 mg) had no statistically significant effect on the incidence of stroke (0.8% vs 2.0%, p = 0.6530) or wound hematoma (1.6% vs 1.0%, p = 1.000). 

Category: nervous system diseases
A novel metalloproteinase gene specifically expressed in stromal cells of breast carcinomas. A gene has been identified that is expressed specifically in stromal cells surrounding invasive breast carcinomas. On the basis of its sequence, the product of this gene, named stromelysin-3, is a new member of the family of metalloproteinase enzymes which degrade the extracellular matrix. The suggestion is that stromelysin-3 is one of the stroma-derived factors that have long been postulated to play an important part in progression of epithelial malignancies. 

Category: neoplasms
Nasopalatine duct cyst: an analysis of 334 cases. The nasopalatine duct cyst (NPDC) is the most common cyst of nonodontogenic origin in the maxilla. However, the information reported about this lesion consists primarily of small surveys and isolated case reports. The purpose of this retrospective investigation was to gather demographic, clinical, and histologic data on a large series of NPDCs, and to compare the findings with those of previous studies. In this study, the overall mean age at diagnosis was 42.5 years, and there was a slight male predilection. The mean radiographic diameter was 17.1 mm, but 75% of the lesions were 20 mm or less in diameter. Symptoms were present in at least 70% of the cases. Only 28% of the specimens contained respiratory epithelium. There was no correlation between radiographic size, patient's age, presenting symptoms, or type of epithelium. Recurrence was noted in only 2% of the cases. 

Category: neoplasms
Management of hemorrhagic complications from preoperative embolization of arteriovenous malformations. Endovascular embolization procedures have undergone dramatic evolution and improvement in recent years. Despite these advances, controversy remains regarding the optimal role of these procedures in treating cerebral arteriovenous malformations (AVM's) and whether their purpose should be as a presurgical adjunct or as primary therapy. This controversy risks fragmentation between disciplines in the broader efforts to improve management of cerebrovascular disorders. The authors report seven cases of life-threatening hemorrhages that occurred during staged invasive therapy for AVM's which illustrate the value of a unified team approach to optimize patient care. Each patient underwent at least one embolization procedure using polyvinyl alcohol particles, followed in two cases by the occlusion of proximal feeding vessels by platinum microcoils and in one case by the attempted detachment of an endovascular balloon. In three patients, catheter penetration into the subarachnoid space resulted in subarachnoid hemorrhage. One patient suffered rupture of a large feeding vessel during balloon inflation. The final three patients sustained intracranial hemorrhage 2 hours, 8 hours, and 5 days, respectively, following embolization. All but two patients underwent emergency craniotomy at the time of the complication. These cases underscore the advantages of interdisciplinary management optimizing decision-making and providing expeditious care when life-threatening complications develop. 

Category: general pathological conditions
Treatment of cutaneous T cell lymphoma with a combination of low-dose interferon alfa-2b and retinoids. In a pilot study the therapeutic effect and side effect profile of low-dose interferon alfa-2b in combination with a retinoid for the treatment of cutaneous T cell lymphoma were evaluated. Seven patients (four women, three men) with histologically confirmed cutaneous T cell lymphoma were included. Four patients had received therapy previously. The treatment schedule consisted of 2 million U of interferon alfa-2b administered subcutaneously three times per week and oral 13-cis-retinoic acid, 1 mg/kg/day, with subsequent dose reduction in case of response. The combination therapy produced two complete and two partial remissions. Responses were maintained by continuous therapy for up to 15 months even after dose reduction of both agents by 50%. Side effects were negligible and did not result in discontinuation of treatment in any patient. 

Category: neoplasms
Effects of intravenous immunoglobulin on hemorrhage-induced alterations in plasma cell repertoires. Hemorrhage produces decreases in serum immunoglobulin (Ig) levels and alterations in the number and frequency of B cells producing antibodies against bacterial antigens. These abnormalities in immune response may contribute to the increased susceptibility to infection after injury and hemorrhage. To examine the relationship between serum Ig levels and bacterial antigen-specific plasma cell numbers and frequencies after blood loss, we treated hemorrhaged mice with intravenous Ig (IVIG). Hemorrhaged mice given IVIG had increased total numbers of splenic plasma cells compared with normal or hemorrhaged, untreated mice. Immunization with the bacterial polysaccharide antigen levan immediately after hemorrhage resulted in approximately 60% fewer levan-specific splenic plasma cells than those seen in normal unhemorrhaged mice. Treatment of hemorrhaged mice with IVIG did not correct the decrease in levan-specific plasma cells. These results demonstrate that hemorrhage-induced alterations in the numbers and frequencies of bacterial antigen-specific B cells are not related to changes in serum Ig levels and cannot be corrected through administration of IVIG. 

Category: general pathological conditions
Reappraisal of surgical treatment of traumatic transection of the thoracic aorta. Since Crawford's report in 1973, repair of traumatic transection of the thoracic aorta without shunt or bypass has emerged as a popular technique which simplifies the operation and avoids use of heparin. Growing evidence, however, indicates that the incidence of paraplegia is higher with this method and may outweigh its advantages. With this in mind, we have examined our experience with 40 patients who underwent repair of aortic transection from 1975-1988. The operated patients in our series all survived. Fourteen were repaired using some type of bypass or shunt, none of whom developed paraplegia. The remaining 26 patients were repaired without a shunt and 9 (34.6%) developed paraplegia or paraparesis (p less than 0.02). Paraplegia was related to aortic occlusion time (p less than 0.002). It did not occur in 11 patients with times less than 27 minutes, but happened in 2 of 8 patients with times between 28 and 35 minutes and in all 7 patients with clamp times over 35 minutes. These data suggest that shunt or bypass should be used in most cases of aortic transection. 

Category: cardiovascular diseases
Occult vascular malformations of the optic chiasm: magnetic resonance imaging diagnosis and surgical laser resection. Angiographically occult vascular malformations of the optic nerve and chiasm are extremely rare. Before the advent of magnetic resonance imaging (MRI), it was difficult to diagnose these lesions preoperatively. We report MRI scan findings of optic chiasm cavernous angiomas in two patients with chiasmal syndrome. MRI was useful in localizing the vascular malformation and delineating its characteristics, especially chronic hemorrhage. One patient underwent biopsy of the lesion. The other patient underwent complete microsurgical resection of the malformation with the carbon dioxide laser with preservation of vision. Occult vascular malformations of the optic nerve and chiasm may be a more common cause of visual deterioration than previously recognized. The MRI scan is the imaging modality of choice for diagnosing and following these lesions. In certain patients, these vascular malformations may be amenable to complete surgical removal with stabilization or improvement of visual function. 

Category: cardiovascular diseases
Botulinum A toxin for the treatment of adult-onset spasmodic torticollis. Thirty-five patients with adult-onset idiopathic torticollis were treated by local injections of botulinum A toxin into dystonic cervical muscles. Substantial improvement with respect to reduction and elimination of pain was found in 81 percent, improvement in posture deformity and involuntary spasms in 70 percent, increased range of motion of the neck in 78 percent, reduction in visible sternocleidomastoid hypertrophy in 86 percent, and improvement in tremor in 65 percent. The syndrome was divided into four subtypes based on pattern of dystonic muscle groups involved in the dystonia, head and shoulder posture, and sternocleidomastoid muscle hypertrophy. Injection strategy based on this subdivision is described. 

Category: general pathological conditions
Outcome of renal transplantation after urinary diversion and enterocystoplasty: a retrospective, controlled study. A total of 17 patients with intestinal urinary diversion of enterocystoplasty underwent renal transplantation between 1970 and 1988. Patient age ranged from 4 to 35 years (mean age 20 years). The patients were divided into 2 groups. In group 1 (10 patients, 2 of whom required retransplantation) the ureter of the transplanted kidney was implanted into an ileal (7) or colonic (1) conduit or enterocystoplasty (2). In group 2 (7 patients, 1 of whom required a second transplant) the diversion was taken down and the transplanted ureter was implanted into the defunctionalized bladder. There were 14 living related and 6 cadaveric kidneys transplanted. Graft survival rates were 58 and 87% in groups 1 and 2, respectively, with an over-all rate of 70% (14 of 20 kidneys). There was no statistical difference in the graft survival rate between the 2 groups. The complications in group 1 included ureteroileal anastomotic leak (3 patients), ureteroileal stenosis (1), calculus formation (1), urosepsis (1), hyperchloremic metabolic acidosis (1), and wound infection and dehiscence (1). There were no complications in group 2. Renal transplantation into a pre-existing urinary intestinal conduit or augmented bladder does not statistically adversely affect patient or graft survival. However, the complication rate is much higher when the ureter is implanted into an intestinal segment. Therefore, it is preferable whenever possible to implant the ureter into the native bladder. 

Category: general pathological conditions
Carbohydrate malabsorption. Its measurement and its contribution to diarrhea. The major purpose of this research was to gain insight into the effect of carbohydrate malabsorption on fecal water output. To do this we measured daily fecal output of total carbohydrate, reducing sugars, and organic acids (a product of bacterial fermentation). Normal subjects were studied in their native state and when diarrhea was induced by mechanisms that did and did not involve carbohydrate malabsorption. Patients with malabsorption syndrome were also studied. We concluded that: (a) Excretion of carbohydrate and its breakdown products can be expressed as a single number by converting organic acids to their monosaccharide equivalents. (b) Diarrhea per se causes only a trivial increase in fecal carbohydrate excretion. (c) The molar output of osmotic moieties in feces due to unabsorbed carbohydrate can be determined by adding fecal reducing sugars to organic acids and their obligated cations. This expression parallels almost exactly the effect of increasing doses of lactulose (a nonabsorbable sugar) on fecal water output; one excreted millimole obligates 3.5 g of stool water. This relationship can be used to predict the effect of carbohydrate malabsorption on stool water output in patients with diarrhea. (d) 12 of 19 patients with malabsorption syndrome due to various diseases had excessive fecal excretion of carbohydrate and its breakdown products; of the diseases that cause malabsorption syndrome, combined small and large bowel resection is most likely to result in excessive fecal excretion of carbohydrate and monosaccharide equivalents. In 6 of these 19 patients carbohydrate malabsorption appeared to be the major cause of diarrhea. 

Category: digestive system diseases