shukoor65/lab-rag-model huggingface dataset:
Infantile Pompe's disease, lipid storage, and partial carnitine deficiency. A diagnosis of infantile Pompe's disease (glycogenosis type II) was made by muscle biopsy on a 6-month-old infant boy seen with hypotonia, weakness, and developmental regression. Histochemistry and electron microscopy revealed a vacuolar myopathy with massive glycoge accumulation associated with increased neutral lipid as demonstrated on Oil Red O reactions. Pleomorphic, hypertrophic mitochondria with distortion of cristae and electron-dense deposits within the matrix were identified. Acid alpha-1,4-glucosidase activity was absent but associated with increased neutral maltase activity and a variable compensatory rise in activity of other lysosomal enzymes. Biochemical studies demonstrated low free carnitine, normal acylcarnitine, increased activity of carnitine palmityl and acyl transferases, and other enzymes of beta-oxidation with the notable exception of low normal beta-hydroxyacyl-CoA dehydrogenase activity. The explanation for the lipid accumulation is uncertain but is likely related to the combination of low carnitine concentration in muscle, low beta-hydroxyacyl CoA dehydrogenase, representing a rate limiting enzyme of beta-oxidation, and nonspecific defective mitochondrial function.
Magnetic resonance images of brain stem infarct in periarteritis nodosa. A 35-year-old woman displayed unusual symptoms of progressive bulbar dysfunction. At necropsy, systemic necrotizing vasculitis and small pontine infarcts were demonstrated. The angiographic and magnetic resonance imaging findings are described. The latter investigation is a sensitive method for detecting such pontine lesions. To our knowledge, this case is the first report of magnetic resonance imaging findings of brain stem infarct in a patient with periarteritis nodosa.
Double-blind study of Gabapentin in the treatment of partial seizures. Forty-three patients completed a double-blind, placebo-controlled study of Gabapentin (GBP) as add-on therapy in partial and secondarily generalized seizures. All patients were followed for an initial 3-month baseline period, after which they were randomly allocated to receive either a placebo or 900 or 1,200 mg/day GBP for 3 months. A statistically significant difference in seizure frequency from the baseline to the treatment phase was noted between patients receiving placebo and GBP 1,200 mg, in whom seizure frequency decreased 57%. The GBP dosage of 900 mg appeared to be ineffective. A close relationship was observed between the serum GBP concentrations and the GBP dosage based on the seizure frequency. Serum GBP concentrations greater than 2 micrograms/ml resulted in a lower frequency of seizures. The adverse effects were minor and consisted mainly of transient drowsiness. GBP appears to be effective in the treatment of partial epileptic seizures in a dosage-related manner.
Conventional MR neuroangiography. MR angiography of the brain plays an important role in the diagnosis of vessel thrombosis and dissection, giant aneurysms, and occult vascular malformations. This essay highlights some of the features of the intra- and extracranial circulation that make conventional MR neuroangiography valuable in the demonstration of vascular anatomy and vascular disease.
Effects of magnesium sulfate on pentylenetetrazol-induced status epilepticus. The use of magnesium sulfate (MgSO4) as an anticonvulsant is controversial. Status epilepticus was induced in 0.5% halothane-anesthetized Wistar rats with a threshold (90 mg/kg) or suprathreshold (200 mg/kg) dose of intravenous (i.v.) pentylenetetrazol (PTZ) under stereotactic hippocampal depth electrode monitoring. Fifteen minutes after seizure induction, the maximum hemodynamically tolerated dose of MgSO4 (10 mg/kg/min in 22 min) was administered i.v. MgSO4 was ineffective in altering seizure discharge. A subgroup of nine animals received hypertonic mannitol before MgSO4 to open the blood-brain barrier (BBB) to facilitate Mg2+ CNS penetration. Again MgSO4 was ineffective in attenuating epileptic activity. These results support the contention that MgSO4 is not an effective treatment for status epilepticus. We hypothesize that because Mg2+ blocks Ca2+ influx into the neuron through the N-methyl-D-aspartate (NMDA) receptor-operated calcium channel in a voltage-dependent manner it would be ineffective in neurons that are continuously depolarizing as in status epilepticus.
Valve extension with glutaraldehyde-preserved autologous pericardium. Results in mitral valve repair. Preliminary experimental studies in our laboratory have shown that autologous pericardium treated with glutaraldehyde prevents late deterioration and calcification of the tissue. For this reason, glutaraldehyde-treated autologous pericardium has been used in a series of 64 patients who underwent operations for leaflet extension of the mitral valve between 1980 and 1989. Ages ranged from 2.5 to 60 years (mean 19 +/- 15). The causes of mitral valve insufficiency were rheumatic fever (69%), bacterial endocarditis (17%), congenital (8%), endomyocardial fibrosis (4.5%), and trauma (1.5%). The autologous tissue was fixed in a 0.62% glutaraldehyde solution for 15 minutes and rinsed in saline for an additional 15 minutes. Patching techniques varied depending on the site and the extent of the lesion. Associated mitral valve repair techniques (Carpentier's techniques) were mandatory in all patients. The period of follow-up extended from 6 months to 9 years (mean 3.1 +/- 2.5 years). There were no operative deaths in this series, and there was one late death (2%). In the six patients (12%) who underwent reoperation, there has been no case of calcification of the pericardial patch. Postoperative mitral valve function was assessed by bidimensional color Doppler echocardiographic techniques. Mitral valve insufficiency was trivial or absent in 80% of the patients. This experience permits us to conclude that leaflet extension is a simple and safe technique in valve reconstruction, allowing repair of mitral valves that otherwise would need to be replaced. It permits use of an adult-size prosthetic ring in children. Glutaraldehyde-treated autologous pericardium is the material of choice for this type of repair.
Unresectable pancreatic cancer: what is the optimal procedure? We retrospectively reviewed cases of pancreatic cancer to determine the benefit of various methods of biliary decompression and the role of prophylactic gastroenterostomy (GE) in management. Twenty-seven patients had only biliary bypass, and 26 had biliary bypass and GE. Operative mortality was similar for both groups (22% and 19%, respectively). The complication rates were almost identical (37% and 35%). Differences in operative mortality, incidence of cholangitis, and recurrence of jaundice were not statistically significant between patients having biliary decompression via the common bile duct or the gallbladder. Operative mortality associated with choledochoenterostomy was 33% versus 17% for cholecystoenterostomy. Gastric outlet obstruction developed in 5% of patients who did not have GE. We conclude that cholecystojejunostomy is an effective method of biliary bypass. Because its addition did not seem to increase operative morbidity or mortality, we advocate GE at the initial exploration to prevent gastric outlet obstruction.
Changes in sizes of cortical and lower motor neurons in amyotrophic lateral sclerosis. It has been suggested that the degeneration of lower motor neurons in amyotrophic lateral sclerosis (ALS) is a transneuronal event, secondary to the loss of corticospinal and corticobulbar neurons. In an attempt to test this hypothesis, the cross-sectional areas of pyramidal cells in layer 5 of the foot and tongue areas of the precentral gyri were measured in 12 cases of the classical sporadic form of ALS, and in 10 control subjects. The areas of motor neurons in the hypoglossal nuclei and in the ventral horns of segment L4 of the spinal cord were also measured. The number of neurons per 20 microns section of ventral horn or hypoglossal nucleus provided a more reliable index of severity of lower motor neuron loss at the time of death than did a semiquantitative score derived from clinical observations. Cortical neurons and lower motor neurons were significantly smaller in the cases of ALS than in the controls. In the cortex this change included, but was not confined to, the largest neurons. These observations indicate that shrinkage precedes neuronal death. There was no correlation, positive or negative, between the numbers of surviving lower motor neurons and the mean sizes of pyramidal cells in layer 5 of the corresponding areas of the precentral gyri. The absence of such a correlation indicates that functionally related cortical and lower motor neurons probably degenerate independently, and not from a transsynaptic effect. Neuronal shrinkage has been observed in other diseases in which interconnected systems of neurons degenerate. The possible association of shrinkage with cytoskeletal degradation is discussed.
Gastroesophageal reflux disease. Gastroesophageal reflux disease, usually manifested by frequent heartburn, occurs in approximately 10% of our adult population. The presence of a hiatal hernia is usually associated with, but does not necessarily cause, LES dysfunction, allowing acid reflux to produce esophageal and aerodigestive symptoms. The mucosa can be extensively damaged and, ultimately, a columnar lining, termed Barrett's esophagus, a premalignant condition, can develop. Treatment with H2-antagonists has been nirvana to some patients, but has proved only partially helpful to others. Adjunctive agents may increase relief and may help heal erosive esophagitis in some patients, but side effects and cost limit their use. Maintenance therapy with full doses is required, as the relapse rate for this chronic condition is high. Omeprazole temporarily heals almost everyone with otherwise resistant GERD, but it is currently used only on a short-term basis unless surgery, eminently successful in well-selected patients, is contraindicated.
Multifocal independent epileptiform discharges in children: ictal correlates and surgical therapy. We obtained continuous EEG/video recordings on four children who had the interictal EEG pattern of multifocal independent epileptiform discharges (MIED). The prominent feature of their evaluation was the evidence that their clinical seizures appeared to be of focal origin; 42/44 seizures were manifested by "fencing postures." Three patients subsequently underwent epilepsy surgery: one focal resection of superior frontal-parietal cortex and two hemidecorticectomies. Seizure control improved in all three patients, and one patient is now seizure-free. Our patients differ from those previously reported in that they had a predominance of tonic seizures and had no history of infantile spasms or Lennox-Gastaut syndrome. Some patients, such as ours, with MIED may have clinical seizures of more focal origin than might be expected from their interictal EEG and, therefore, may benefit from resective epilepsy surgery.
Reflex sympathetic dystrophy syndrome of the hand after placement of an arteriovenous graft for hemodialysis. Reflex sympathetic dystrophy syndrome (RSDS), a complex clinical syndrome characterized by pain and swelling of an affected extremity, is most commonly seen after trauma. We report the case of a woman with diabetes mellitus and chronic renal failure who presented with RSDS 5 months after placement of an arteriovenous (AV) graft for hemodialysis. The temporal relationship between RSDS and the vascular surgery suggests AV graft placement as the precipitating event for the development of RSDS. Treatment with systemic corticosteroids successfully relieved the patient's symptoms. We believe that RSDS should be included in the differential diagnosis of unexplained limb pain and swelling after AV graft placement.
Pleomorphic melanoma mimicking sarcoma. Malignant melanoma may display a wide variety of unusual morphologic patterns that simulate unrelated neoplasms. The diagnostic approach to such complex and morphologically divergent lesions requires thorough and extensive scrutiny not only by routine light microscopy, but also by immunohistochemical and ultrastructural evaluation. We have reported the case of a patient with a mass on the heel exhibiting complex morphology that illustrates the value of such a systematic approach.
Case of penetrating orbitocranial injury caused by wood. A case of retained intraorbital and intracerebral wooden foreign body following an orbitocranial penetrating injury through the lower lid of an adult is described. Initial failure to recognise the true nature of the injury led to intracerebral abscess formation and monocular blindness. Diagnosis and management of such cases are discussed.
Syndrome of severe skin disease, eosinophilia, and dermatopathic lymphadenopathy in patients with HTLV-II complicating human immunodeficiency virus infection. Two intravenous drug users dually infected with human immunodeficiency virus type 1 (HIV-1) and human T-cell leukemia virus type II (HTLV-II) developed an unusual severe dermatitis characterized by progressive brawny induration, fissuring, and ulceration of the skin, with an associated CD8 cell infiltration in one patient. Both patients had persistent eosinophilia. Lymph node biopsy revealed dermatopathic lymphadenopathy, an unusual pathologic finding in HIV-1 infection but one seen in association with mycosis fungoides and other skin disorders. Two new isolates of HTLV-II virus were established from these patients and were identified as HTLV-II by Southern blotting. This type of skin disease and lymph node pathology has not been found in other intravenous drug users who have been infected with HIV-1 alone or in patients in other risk groups for HIV-1 infection. HTLV-II may play a role in this unique new disease pattern in patients infected with HIV-1.
Hypoglossal-facial nerve interpositional-jump graft for facial reanimation without tongue atrophy. The hemitongue paralysis that occurs as a result of a classic hypoglossal-facial nerve crossover procedure can result in profound functional deficits in speech, mastication, and swallowing. The procedure is not an option in patients with bilateral facial paralysis or those at risk for combined cranial nerve deficits. To address some of the drawbacks and limitations of this classic procedure, we developed the hypoglossal-facial nerve interpositional jump graft (12-7 jump graft) procedure. This procedure involves interposing a nerve graft between a partially severed but functionally intact twelfth cranial nerve and the degenerated seventh cranial nerve, and is often combined with other reanimation procedures. To date, we have performed 33 12-7 jump graft procedures in 30 patients (three were treated for bilateral facial paralysis); this report describes the procedure and its indications, and details the results of 23 procedures performed in 20 patients for whom 24-month follow-up data are available. Twelfth nerve deficits occurred in only three patients in this report. Recovery of facial function began between 3 and 24 months postoperatively. Facial tone and symmetry were achieved in every patient, no patient had significant mass movement, and 13 patients (two of whom were treated for bilateral facial paralysis) had excellent and three had superb restoration of facial movement. These results show the 12-7 jump graft to be a valuable adjunct for facial reanimation in selected patients.
Traumatic rupture of the stomach after Heimlich maneuver. Fatal complications following the performance of the Heimlich maneuver have been reported. A 76-year-old woman presented to the emergency department with signs of respiratory distress, abdominal pain and distension one day after airway obstruction and subsequent resuscitation. Despite successful immediate laparotomy and repair of a ruptured stomach, she later succumbed to the sequelae of aspiration of gastric contents and dehiscence of the gastric tear. This is the 4th case of stomach rupture and the 7th reported fatal complication following the Heimlich maneuver. It is recommended that persons who undergo the Heimlich maneuver be examined and observed by a physician, as soon as possible, to rule out complications.
A new mouse mutant with progressive motor neuronopathy. A new autosomal-recessive mouse mutant with progressive motor neuronopathy (pmn) is described. Homozygotes develop paralysis of the hindlimbs during the third week of life. Soon thereafter the forelimbs also become weak, and all mice die six to seven weeks after birth. Heterozygotes are normal. Skeletal muscles show neurogenic atrophy without histological signs of reinnervation. Axonal degeneration apparently starts at the endplates and is prominent in the sciatic nerve and its branches and the phrenic nerve. Axonal sprouts are abundant. There is no evidence of demyelination, and unaffected nerve fibers are normally myelinated. Sensory axons are spared. Almost all distal motor axons have disappeared in four to five weeks after birth. Ventral nerve roots show a reduced diameter of the largest fibers but no fiber deficits. The ventral horn cells show slight chromatolysis. The corticospinal tract is normal, but in terminally ill animals the fasciculus gracilis, the rubrospinal tract and possibly also reticulospinal fibers degenerate. The brain is histologically normal. The disease manifests itself in a dying-back fashion in the distal portion of the motor neurons and may represent an animal model of hereditary motor neuron diseases in man.
Salmonella myonecrosis in a patient with diabetes mellitus. Bacterial myonecrosis is a medical and surgical emergency and prompt surgical intervention is critically important. A variety of microorganisms have been isolated from patients with necrotizing soft-tissue infections. These infections are frequently polymicrobial in etiology, but occasionally a single microorganism is isolated. This report describes a case of crepitant myonecrosis from infection with Salmonella serogroup B.
Retinal thickness analysis for quantitative assessment of diabetic macular edema. Diabetic macular edema is a major cause of vision loss and is evaluated with qualitative or semiquantitative techniques. A new quantitative method for assessment of macular edema using retinal thickness analysis was applied to 19 patients with diabetic macular edema. Foveal thickening was frequently coupled with poor visual acuity. Slit-lamp biomicroscopy and stereophotography detected 80% and 78% of local areas of thickening, respectively, but failed to detect locations with average thicknesses of 1.5 and 1.6 times normal, respectively. Fluorescein leakage on angiography was generally associated with retinal thickening, but locations with similar degrees of leakage had widely varying retinal thickening. Fluorescein leakage in the posterior vitreous correlated poorly with the degree of foveal thickening. These results indicate that quantitative measurement of retinal thickness may become useful in the management of diabetic patients with macular edema.
Fibrocystic disease of the breast in premenopausal women: histohormonal correlation and response to luteinizing hormone releasing hormone analog treatment. Sixty-six patients with fibrocystic mastopathy were enrolled in the trial after being selected according to clinical, radioultrasonographic, and histologic criteria. No characteristic hormonal profile was noted in most patients (52%). Estrogen receptors or progesterone receptors, or both, were found in 57% of patients. Hormone receptor levels were correlated with atypical proliferative mastopathy (87.5%). Mastopathy was associated with a uterine fibroma or a fibromatous uterus in 73% of cases. All patients received intramuscular injections of a sustained delivery system (microcapsules) of luteinizing hormone releasing hormone agonist [D-Trp6]-LHRH, Ipsen-Biotech, Paris) for 3 to 6 months. In case of partial response at 3 months, an antiestrogen (tamoxifen, 40 mg/day, for estrogen receptor-predominant lesions) or a progestin (cyproterone acetate, 50 mg/day, for progesterone receptor-predominant lesions) was added to the luteinizing hormone releasing hormone agonist. A complete response was observed in more than half of the patients (n = 35, 53%) treated by [D-Trp6]-LHRH alone (n = 29) or associated with tamoxifen (n = 4) or cyproterone acetate (n = 2). A significant partial response was observed in 30 other patients (45%). Additionally, half of them received inhibitory drugs. The best responses were seen with cyst reformation (complete response, 100%) and fibrous block. Clinical responses to treatment with [D-Trp6]-LHRH alone were independent of hormone receptor status, but synergistic effects occurred with concomitant use of the corresponding inhibitory drugs. We conclude that chronic mastopathy, particularly when associated with uterine fibroma, can be successfully treated by luteinizing hormone releasing hormone analogs in premenopausal women.
Median lip fissure: etiology and suggested treatment. In a prospective study of 20 patients with median lip fissure, pedigrees were obtained. A hereditary predisposition for weakness in the first branchial arch fusion seems to exist. In some persons, more often in males than in females, this weakness eventually leads to development of a median lip fissure. The fissure becomes symptomatic when it is infected. In 10 patients the fissure was excised; in the other 10 patients excision was done in combination with a Z-plasty of the center of the lesion. The prognosis with the latter operation was superior to that with the former.
Patient selection for mechanical circulatory support as a bridge to cardiac transplantation. Between 7/87 and 9/90 thirty-four patients underwent total artificial heart (Berlin Heart) (n = 2) or biventricular assist device (Berlin Heart) (n = 32) implantation as a bridge to cardiac transplantation. The time of mechanical support ranged from 2 to 60 days, for a mean of 19.2 days. Twenty-three patients received heart transplants, with 74% 30-day survival and 52% long-term survival. Implantation of a mechanical support system became indicated in those patients whose hemodynamic and clinical condition deteriorated despite treatment with enoximone in addition to maximal sympathomimetic medication. The strategy to administer enoximone routinely was the result of a prospective study on 24 pretransplant patients in whom enoximone therapy reduced the need for mechanical assistance by 62%. At the time of device implantation shock-related organ impairment such as cerebral, renal, hepatic, and respiratory dysfunction was present in 62% of patients. In addition, 7 patients had pneumonia. During mechanical support complete recovery of end-organ failure and resolution of pneumonia was observed in the majority of patients. The results indicate that end-organ dysfunction per se should not be considered a contraindication to mechanical circulatory support as a bridge to cardiac transplantation. However, further clinical investigations are needed to identify predictive indicators of irreversible organ damage.
Tissue plasminogen activator-associated lingual artery hemorrhage. Reported is the case of a patient with vertebrobasilar artery ischemia who received tissue plasminogen activator with resulting hemorrhage into the tongue and nearly exsanguinating hemorrhage from a branch of the lingual artery. Suggestions for immediate management of the hemorrhage as well as prevention are presented. As the use of thrombolytic agents increases and the list of their indications expands, unusual life-threatening hemorrhagic problems other than gastrointestinal or intracranial bleeding will be seen, and management decisions may be life saving.