shukoor65/lab-rag-model huggingface dataset:
Heterozygous protein C deficiency associated with multiple congenital hemangiomas--a case report. Congenital protein C deficiency is described as associated with recurrent thrombotic manifestations. The proband, a fourteen-year-old female, has a history of severe and frequent thrombotic disease, moreover, she presents congenital multiple hemangiomas. Family history was positive for protein C deficiency since the mother of the proposita is also affected and has manifested deep venous thrombophlebitis. Two additional relatives on the maternal side were not available for study but were reported to be symptomatic. None of the family members presented angiomatosis. This case report represents the first description of the association of protein C deficiency with multiple hemangiomas.
Relationship between fetal biophysical activities and umbilical cord blood gas values. In a prospective study of 62 patients undergoing cesarean section before the onset of labor a fetal biophysical profile assessment was performed within 3 hours before the cesarean section. The presence or absence of the individual fetal biophysical activities (fetal heart rate reactivity, fetal breathing movements, fetal body movements, and fetal tone) were correlated with umbilical cord blood gas and acid-base measurements (artery and vein). Fetuses with nonreactive nonstress test results or the absence of breathing had significantly lower cord artery pH, PO2 bicarbonate, and base excess measurements but not a significantly different PCO2 level as compared with fetuses that had these activities present. Fetuses with the absence of movements or tone had lower pH, PO2 bicarbonate, and base excess levels and higher PCO2 levels as compared with fetuses with the presence of movements or tone, respectively. These blood gas and acid-base differences were observed in both umbilical cord artery and vein. Subsequent analysis of the blood gas and acid-base measurements of the fetuses with compromised biophysical activities revealed that there are different levels of acidemia, hypoxemia, and hypercapnia at which the individual biophysical activities are compromised. These data suggest that the first manifestations of fetal hypoxemia and acidemia are nonreactive nonstress test results and loss of fetal breathing; in advanced acidemia, hypoxemia, and hypercapnia fetal movements and fetal tone are compromised.
A genetic study of idiopathic focal dystonias. A genetic study of idiopathic focal dystonias was undertaken by examining 153 first-degree relatives of 40 index patients with torticollis (14 patients), other focal cranial dystonias (16 patients), and writer's cramp (10 patients). Nine relatives with dystonia were identified in 6 families; 8 of these had symptoms such as clumsiness or tremor, but none were aware of any dystonia. A further 4 relatives, now decreased, were affected by history. Overall, 25% of index patients had relatives with dystonia. The results of segregation analysis suggested the presence of an autosomal dominant gene or genes with reduced penetrance as a common cause for focal dystonia. Segregation ratios were not significantly different from those ratios observed in generalized or segmental dystonia in the United Kingdom, and it is possible that a single autosomal dominant gene mutation is responsible for inherited dystonia in the majority of patients irrespective of distribution or severity.
Laryngeal papillomas: histomorphometric evaluation of multiple and solitary lesions. Laryngeal papillomas from 20 patients (162 papillomas) were subjected to histomorphometric analysis: Based on clinical parameters, the papillomas were divided into juvenile multiple papillomas, adult multiple papillomas and adult solitary papillomas. The volume fractions of basal cells, koilocytes and nuclei as well as the mean nuclear volume were determined for each group. Significant differences between the 3 groups were not found and it is therefore concluded that they all represent the same basic lesion.
Hepatitis B virus-associated glomerulonephritis: electron microscopic studies in 98 children. Ninety-eight children with glomerulonephritis concomitant with hepatitis B surface HBs antigenemia were studied, the antigenemia being first documented at the clinical onset of glomerulopathy. Initial diagnoses, based on examination of the paraffin sections, varied, membrano-proliferative, mesangial, and membranous glomerulonephritis being most frequently considered. However, electron microscopic examination showed that 77 children had a uniform type of glomerulopathy, irrespective of the light microscopic appearance. This type was diagnosed as secondary membranous glomerulonephritis. The clinical course of this nephropathy was relatively indolent and short. Moreover, in many children, elimination of some hepatitis B virus (HBV) antigens from the circulation was also associated with clinical remission of glomerulopathy. The remaining 21 children with HBs antigenemia had various morphological forms of glomerulonephritis, these being similar to their idiopathic counterparts in both morphology and clinical course. The distinct clinical and morphological picture of secondary membranous glomerulonephritis with HBs antigenemia occurring in 77 of 98 children supports the hypothesis that HBsV-associated glomerulonephritis is of the secondary membranous type. Thus, we conclude that in children HBV antigenemia associated with glomerulonephritis other than secondary membranous is coincidental.
Association of human leukocyte class II antigens with rheumatic fever or rheumatic heart disease in a Brazilian population. BACKGROUND. The incidence of rheumatic heart disease is great in Brazil. We analyzed the distribution of human leukocyte (HLA) antigens in a Brazilian population sample with rheumatic fever or rheumatic heart disease, with the aim of better understanding the mechanisms involved. METHODS AND RESULTS. HLA class I (A, B, and C) and class II (DR and DQ) antigen distribution was studied in 40 patients with diagnosis of rheumatic fever or rheumatic heart disease and compared with a control group of 617 healthy individuals for class I typing, from which 118 were drawn for class II typing. A strong correlation between rheumatic fever and rheumatic heart disease and HLA-DRw53 (72.9% in the disease group versus 39% in the control group: p = 0.00061, relative risk, 4.2; etiologic fraction, 0.43) was found. We also found an increase in the frequency of HLA-DR7 (57.5% in the disease group versus 26.3% in control group: p = 0.00715; relative risk, 3.8; etiologic fraction, 0.56). HLA class I and HLA-DQ typing did not point to any association with these diseases. CONCLUSIONS. HLA-DR7 and HLA-DRw53 are markers for susceptibility to rheumatic fever and rheumatic heart disease in Brazil. These results could be explained by genetic differences resulting from racial or geographical diversity.
Molecular diagnosis of cutaneous T-cell lymphoma: polymerase chain reaction amplification of T-cell antigen receptor beta-chain gene rearrangements. The goal of our study was to molecularly diagnose CTCL, by cloning the T-cell antigen receptor beta chain (TCR-beta) gene rearrangement from the malignant T cells of a patient with Sezary syndrome, in order to generate a specific oligonucleotide probe capable of detecting CTCL cells through polymerase chain reaction (PCR) amplification. Total RNA isolated from peripheral blood lymphocytes was reverse transcribed and resultant first strand cDNA was PCR amplified utilizing a concensus primer to the TCR-beta variable region (V beta) and a 3' primer to the TCR-beta constant region (C beta). PCR reaction products were subcloned into a plasmid vector and sequenced. Sequence analysis revealed that the patient's in-frame TCR-beta gene rearrangement utilized V beta 6.4, D beta 1.1, J beta 2.2, and C beta 2.1 gene segments. Oligo-primers to V beta 6.4 and J beta 2.2 were utilized to PCR amplify genomic DNA taken from the patient's blood and involved skin. Screening the amplified DNA with an oligo-probe specific for the patient's V-D-J junctional sequences resulted in the detection of the patient-specific sequences. No sequences were detected from DNA from other malignant or benign infiltrates. Thus, we have defined a "molecular fingerprint" specific for a patient's malignant T-cells and can molecularly diagnose CTCL through PCR amplification.
Functional role of the epicardium in postinfarction ventricular tachycardia. Observations derived from computerized epicardial activation mapping, entrainment, and epicardial laser photoablation BACKGROUND. Conventionally, monomorphic sustained ventricular tachycardia in patients with remote myocardial infarction is believed to originate from the subendocardium. In a previous study, we demonstrated that electrical activation patterns during ventricular tachycardia occasionally suggest a subepicardial rather than subendocardial reentry. METHODS AND RESULTS. This study prospectively evaluated the functional role of the epicardium in postinfarction ventricular tachycardia with complex intraoperative techniques including computerized electrical activation mapping, entrainment, observation of changes in activation pattern during successful epicardial laser photoblation, and histological study. Five of 10 consecutive patients undergoing intraoperative computerized activation mapping had 10 ventricular tachycardia morphologies displaying epicardial diastolic activation These 10 "epicardial" ventricular tachycardias revealed the following global activation patterns: monoregional spread (two), figure-eight activation (five), and circular macroreentry (three). Entrainment of ventricular tachycardia using epicardial stimulation was successfully performed from an area of slow diastolic conduction in four tachycardia morphologies. During entrainment, global activation remained undisturbed with recordings showing a long stimulus to QRS interval, unchanged QRS morphology, and pacing capture of all components of the reentry circuit. Neodymium:yttrium aluminum garnet laser photocoagulation was delivered during ventricular tachycardia to epicardial sites of presumed reentry. Epicardial photoablation terminated five of five figure-eight tachycardias, two of three circular macroreentry tachycardias but not the monoregional tachycardias. Electrophysiological recordings during epicardial laser photocoagulation demonstrated progressive prolongation of ventricular tachycardia cycle length and apparent interruption of the presumed reentrant circuit. Histological evaluation of the reentrant region (three patients) showed a rim of surviving myocardium under the epicardial surface. CONCLUSIONS. This study suggests that 1) chronic postinfarction ventricular tachycardia may result from subepicardial macroreentry, 2) slow conduction within the reentry circuit can be localized by computerized mapping and epicardial entrainment, and 3) ventricular tachycardia interruption by laser photocoagulation results from conduction delay and block within critical elements of the reentrant pathway. Viable subepicardial muscle fibers may constitute the underlying pathology.
Interleukin-6 in serum of patients with polymyalgia rheumatica and giant cell arteritis. Polymyalgia rheumatica and giant cell arteritis are diseases which are characterized by a brisk acute phase response. Cytokines, principally interleukin-1 and interleukin-6, are thought to mediate the release of acute phase proteins from hepatocytes. Employing a sensitive bioassay based on the hybridoma growth factor properties of interleukin-6, we investigated its levels in sequential sera obtained from 15 initially untreated patients with PMR/GCA. We found that interleukin-6 activity was significantly elevated in all untreated patients. Although there was a significant decline in its levels after successful steroid therapy, seven patients continued to have raised serum levels of interleukin-6 for up to 6 months after initiation of treatment. Activated endothelial cells are a potent source of interleukin-6 and its persistence in the circulation may be taken as evidence of continuing disease activity. What is not explicable is the normalization of the acute phase response soon after the commencement of steroid therapy when circulating levels of interleukin-6 are still high. This suggests that steroids may be having additional effects on hepatocyte function.
Effect of nasal packing on eustachian tube function. Sixty-three patients undergoing surgery to the nasal septum followed by bilateral packing had pre- and post-operative tympanometry in order to determine the effect on eustachian tube function. Fifty-five of the 126 ears tested (46 per cent) developed a reduction in middle ear pressure of at least 50 daPa; 76 per cent became normal within 24 hours of removing the nasal packs. All ears were asymptomatic and no patient had evidence of middle ear effusion. Nasal packing following septal surgery is a frequent cause of short-lasting eustachian tube dysfunction but rarely severe enough to cause symptoms or middle ear effusion. Tubal dysfunction is most likely due to a combination of surgical oedema and a direct effect of the nasal packing.
Clinical evaluation of nasopharyngeal carcinoma in Jordan. Thirty-three cases of nasopharyngeal carcinoma are reported. This is the first report of this condition from Jordan. Age, sex, early presentation and metastases are discussed. Bimodal distribution of age showed two peaks between 16-20 and 41-45 years. The disease was more common in males. Lymph node enlargement was the most common presentation, and bone metastases were the most frequent.
Results from 7-mm bilateral recessions of the medial rectus muscles for congenital esotropia. We reviewed the surgical records of 77 patients who had undergone 7-mm bilateral medial rectus recessions for large-angle congenital esotropia. The mean age of onset of esotropia in these patients was 3.5 months, and the mean age at the time of surgery was 12.9 months. The mean preoperative deviation was 69 delta of esotropia. This procedure resulted in satisfactory horizontal alignment in 47 patients (61%) at their latest follow-up examination (mean, 27 months; range, 6 months to 6 years). The esotropia was undercorrected in 21 patients (27%) and overcorrected in nine (12%). Amblyopia was noted in 30%, oblique muscle dysfunction in 44%, and dissociated vertical deviation in 36% of the patients. Regression analysis of multiple variables showed alignment at 6 weeks to be the only predictor of the final outcome (R = .83). Extramacular fusion was achieved in 10 of 11 patients for whom reliable sensory data were available. The mean age at surgery of these patients was 9.7 months. Seven-millimeter bilateral medial rectus recessions are an effective alternative to three- and four-muscle procedures in the initial treatment of large-angle congenital esotropia during infancy.
Simultanagnosia. To see but not two see. Simultanagnosia is a disorder of visual perception characterized by the inability to interpret complex visual arrays despite preserved recognition of single objects. We report a series of investigations on a simultanagnosic patient which attempt to establish the nature of this visual processing disturbance. The patient performed normally on a feature detection task but was impaired on a test of attention-requiring visual search in which she was asked to distinguish between stimuli containing different numbers of targets. She was not impaired on a visual-spatial orienting task. She identified single briefly presented words and objects as rapidly and reliably as controls suggesting that access to stored structural descriptions was not impaired. With brief, simultaneous presentation of 2 words or drawings, she identified both stimuli significantly more frequently when the stimuli were semantically related than when they were unrelated. On the basis of these and other data, we suggest that the patient's simultanagnosia is attributable to an impairment in the process by which activated structural descriptions are linked to information coding the location of the object.
Chemical and postural influence on scalene and diaphragmatic activation in humans. The electromyographic activity of the diaphragm (EMGdi) and scalene muscle (EMGsc) was studied in the supine and upright positions, respectively, during hyperoxic progressive hypercapnic rebreathing (HCVR) in five healthy males. End-expiratory esophageal pressure (EEPes) was quantified on a breath-to-breath basis as a reflection of altered end-expiratory lung volume. There was no significant difference in the slopes of EMGdi, expressed as a percentage of maximum at total lung capacity vs. minute volume of ventilation (VI), between the supine and upright positions [0.79 +/- 0.05 (SE) vs. 0.92 +/- 0.17, respectively]. In contrast, the slope of the regression line relating EMGsc to VI was steeper in the upright than in the supine position (0.69 +/- 0.05 vs. 0.35 +/- 0.04, respectively; P less than 0.005). Positive EEPes at comparable VI at the ends of HCVRs were of greater magnitude upright than supine (3.27 +/- 0.68 vs. 4.35 +/- 0.60 cmH2O, respectively, P less than 0.001). We conclude that altering posture has a greater effect on scalene and expiratory muscle activity than on diaphragmatic activity during hypercapnic stimulation.
Enteropathogenic Escherichia coli and life threatening chronic diarrhoea. Enteropathogenic Escherichia coli (EPEC) infection is not generally thought to cause severe diarrhoea after the neonatal period. Patients admitted to Queen Elizabeth Hospital for Children over the three years (1984-7) with diarrhoea and EPEC infection were reviewed. Clinical details, features of small intestinal mucosa, and treatment were recorded in those who developed chronic diarrhoea with failure to thrive. Twenty six children with EPEC required hospital admission for diarrhoea and six of these (23%) developed chronic diarrhoea. In contrast only two (5%) of 42 with other serogroups of E coli (p less than 0.01) and 28 (4%) of 764 children without EPEC admitted with acute diarrhoea developed chronic symptoms (p less than 0.01). EPEC serogroups detected in the stool of the six children with chronic diarrhoea were 0128 in three, 0114 in two, and 0119 in one. The patients' clinical characteristics were: previous good health, no significant immunodeficiency, age 4-10 months, foreign travel (three of six), severe life threatening secretory diarrhoea from 0.5 to 1.5 1 per day (four of six), small intestinal enteropathy (five of six) three of whom showed mucosal adherent, non-invasive E coli of the same serotype as that in the stool, in association with microvillous loss and pedestal formation. All were treated with hypoallergenic feeds, two with parenteral nutrition, and three with parenteral antibiotics. All eventually recovered. EPEC infection is a common treatable cause of life threatening chronic diarrhoea in infancy.
Malignant osteopetrosis: hypercalcaemia after bone marrow transplantation. A 3 year old girl presented with malignant osteopetrosis, which was treated by allogeneic bone marrow transplantation. Successful engraftment was complicated by prolonged hypercalcaemia, which was controlled by a combination of a bisphosphonate, phosphate infusions, vigorous resalination, and salmon calcitonin. She was alive and well 16 months after the transplant.
Repeat thymectomy in chronic refractory myasthenia gravis. Encouraged by recent results with "extended" thymectomy in the treatment of myasthenia gravis, we carried out repeat thymectomy in six patients with chronic, refractory disease who did not initially have extended thymectomy. All were completely disabled with longstanding myasthenia. Initial thymectomy (four transsternal, one transcervical, and one substernal) was carried out at a mean of 8.9 years previously (range, 5 to 18). There was no residual thymus observed with CT, but at repeat thymectomy, residual thymic tissue was present in five of six patients. Five patients significantly improved and four returned to full-time work. Mean prednisone dose declined from 51 mg to 18 mg/d, and mean pyridostigmine dose fell from 1,290 mg to 415 mg/d. No patient to date has had a complete remission. These results suggest that repeat thymectomy may benefit some patients with chronic disabling myasthenia gravis, especially when it is uncertain from a review of the operative report whether all thymic tissue was removed at the initial thymectomy.
In vitro studies of uterine electrosurgery. This study investigated electrosurgical techniques in vitro with emphasis on the tissue effects and heat transfer through full-thickness blocks of excised uterine tissue. Uterine morphometry was also examined. The 7-mm cutting resection loop was associated with a surrounding zone of thermal necrosis between 1.07-1.40 mm. There was no variation in this zone when power was altered, but a statistically significant increase was demonstrated with duration of exposure. A depth of destruction of 3.24-3.49 mm was possible with the desiccating coagulation technique, but fulguration achieved a depth of only 1.70-1.78 mm. A greater tissue effect was demonstrated as time intervals were increased. There was a fall-off in the measured rise in temperature with distance; at 4 mm from the active electrode, a mean rise of 4.5C was noted, whereas at 12 mm the mean temperature rise was 3.9C. There was a statistically significant increase in the mean temperature as power output in the cutting mode was increased. At 180 W, the mean rise was 2.0C but by 260 W, it was 3.9C. When the time interval was increased and the power held constant (220 W), a mean rise of 2.5C was recorded at 1 second, compared with 4.6C at 5 seconds, achieving statistical significance. Power increments in the coagulating mode did not alter the temperature profile, but increasing duration of exposure was associated with a significant rise in mean temperature (from 0.8 to 4.6C). A stepwise increase in the baseline temperature was noted with repetitive insults. The mean myometrial thickness of the anterior and posterior walls measured 1.8 and 1.9 cm, respectively.
Clam enterocystoplasty in general urological practice. A series of 45 patients (31 female) underwent clam enterocystoplasty for urgency and incontinence. The majority had detrusor instability. Prolonged conservative treatment had failed in all cases. Improvement occurred in 71% and those younger than 30 years had better overall results; 29% remained incontinent, with 9% requiring a urinary diversion. Many patients did not achieve maximum benefit until 9 months post-operatively. Surgery had no statistically significant effect on any urodynamic parameter and post-operative complications were common. The operation was performed in either the coronal (19) or the sagittal plane (26); this did not influence results. In general, surgery was found to be technically simpler in the sagittal group and it is recommended that this becomes the standard procedure. We feel that this operation involves major surgery and should only be offered with reluctance.