New TaqI RFLPs at the DXS52 (St14) locus in the black population.
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Biomedical subjects
Publications and source records attributed to C Schwartz.
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We retrospectively analyzed the small bowel radiographies, performed by enteroclysis in 73 patients presenting a malabsorption disease. The etiology are: celiac disease (44 cases), abetalipoprotidemia (2 cases), Whipple's disease (7 cases), mastocytosis (1 case), amyloidosis (1 case), ischemia enteritis (4 cases), radiation injury (4 cases), lymphangiectasia (4 cases), Crohn's disease (4 cases) and NH lymphoma (2 cases). With enteroclysis, the radiological diagnosis of malabsorption disease is improved and it is able to differentiate malabsorption diseases based on radiological features: increased or decreased number of folds (celiac disease, mastocytosis, abetalipoprotidemia), nodularity of folds (Whipple's disease) and wall thickness (amyloidosis, lymphangiectasia, ischemic enteritis and radiation injury). It is no possible to differentiate NH lymphoma from Crohn's disease.
The study of arterial vascularity in the head and neck of the femur is performed as an emergency exploration of femoral neck fractures by means of selective catheterization. The systematization of vascular lesions thus obtained is compared with the anatomical types of fractures. The posteromedial circumflex artery is not injured definitively as a rule, so that conservative osteosynthesis can be preferred to arthroplasty.
Because inadequate assessment and inappropriate treatment of acute asthma have been implicated as contributing factors in morbidity and even deaths, the management of acute asthma, as practiced in an emergency room, were reviewed. The study population comprised 1,864 children (mean age 5.6 years; 65% boys) who attended the emergency room with acute asthma on 3,358 occasions during a 16-month period. Visits occurred more commonly in winter and usually in the evenings; 93% were self-referred and the mean duration of symptoms was 41 hours. Most acute episodes were associated with infection. Although chest auscultation, heart rate, and respiratory rate were recorded during the majority of visits, evidence that pulsus paradoxus had been measured could be found for only 1% of visits. Results of lung function and blood gas values were rarely recorded, but chest radiographs were obtained in 18% of visits. Drugs used in the emergency room included beta 2-agonists (93% of visits), theophylline (16%), and systemic steroids (4%), but no child received anticholinergic therapy. In 26% of patient visits, admission to hospital occurred; one patient died. The erratic fashion in which asthma severity appears to have been assessed and the failure to document whether lung function had been measured are causes for concern. The surprisingly high hospitalization rate may have been avoided if bronchodilators and corticosteroids had not been underused in the emergency room.
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Five X-chromosome DNA markers were typed on 261 members of three large kindreds with Alport syndrome (hereditary glomerulonephritis). Lod scores greater than 3.0 for linkage between the disease locus and two of the markers confirmed X-linked inheritance of the disease. A decreasing gradient in the estimated recombination fractions observed when the markers were ordered on the basis of their map locations suggested that the disease locus is on the long arm distal to all the markers typed in this study. Using three-locus analysis we rejected all but three map orders for the six loci (the disease locus and five markers). In all three the Alport syndrome locus was on the long arm of the X chromosome distal to all the markers. Two types of Alport syndrome were represented in the three kindreds. Affected males in one kindred developed deafness in addition to nephritis; deafness did not occur in members of the other two kindreds. Although larger recombination-fraction estimates were obtained for all five markers in the kindreds without deafness, the difference was significant for only one marker. Evidence of heterogeneity was not found in tests using two markers. Markers distal to the disease locus are needed to determine whether two loci are responsible for the two types of Alport syndrome.
The advantages, complications or sequelae of surgical treatment of primary vesico-ureteral reflux in children are discussed in the light of 382 cases operated upon between 1971 and 1984. Changes in ideas on the fate of primary reflux and its consequences make it necessary to modify our therapeutic strategy, as shown by a study of our records and an exhaustive review of the literature. As a result, we suggest that reflux into a non-dilated ureter should not be operated, whereas reflux into a widely dilated ureter requires surgery. The operation should take place at an early stage in cases with severe renal lesions with pronounced radiological and biochemical alterations. In children with reflux of medium severity, the decision to operate or treat medically must rest on such criteria as age and severity, frequency and resistance of episodes of urinary infection, radiological and endoscopic data and signs of renal tissue functional damage.
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Two sisters with premature menopause and a small deletion of the long arm of one of their X chromosomes [del (X)(pter----q26.3:)] were investigated with polymorphic DNA probes near the breakpoint. The deleted chromosome retained the factor IX (F9) locus and the loci DXS51 (52A) and DXS100 (pX45h), which are proximal to F9. However, the factor VIII (F8) locus was not present, nor were two loci tightly linked to this locus, DXS52 (St14) and DXS15 (DX13). This deletion refines the location of the F9 locus to Xq26 or to the interface Xq26/Xq27, thus placing it more proximally than has been previously reported. The DNA obtained from these patients should be valuable in the mapping of future probes derived from this region of the X chromosome.
We have characterized three terminal deletions of the long arm of the X chromosome. Southern analysis using Xq27/q28 probes suggests that two of the deletions have breakpoints near the fragile site at Xq27.3. Flow karyotype analysis provides an estimate of 12 X 10(6) bp for the size of the deleted region. We have not detected the deletion breakpoints by pulsed-field gel electrophoresis (PFGE) using the closet DNA probes, proximal to the fragile site. The physical distance between the breakpoints and the probes may therefore be several hundred kilobases. The use of the deletion patients has allowed a preliminary physical map of Xq27/28 to be constructed. Our data suggest that the closest probes to the fragile site on the proximal side are 4D-8 (DXS98), cX55.7 (DXS105), and cX33.2 (DXS152). PFGE studies provide evidence for the physical linkage of 4D-8, cX55.7, and cX33.2. We have also found evidence for the physical linkage of F8C, G6PD, and 767 (DXS115), distal to the fragile site.
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During 11 years, 14 cases of tuberculosis of the colon are radiographied. The clinical findings are not specific and the association with evolutive pulmonary tuberculosis is infrequent (28%). The radiological features are described: ulcerations (4 cases), ulcerations and hypertrophic features (3 cases) and hypertrophic features (7 cases). The involving sites are caecum and ileocecum in 6 cases, ascending colon in 3 cases, transverse colon in 2 cases, descending colon in 2 cases and recto-sigmoid in 2 cases. The differential diagnosis are segmental Crohn colitis and colonic carcinoma. Endoscopic examination with biopsy is a help to the diagnosis, but in 5 cases, it will be deficient. The diagnosis of colonic tuberculosis is setting only by surgical resections in 6 cases (43%) and 4 patients have been treated by medical treatment with success. No relapse appears in operated patients.
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The clinical usefulness and general ease of insertion of transvenous pacing catheters have made this procedure popular. It is sometimes difficult, yet important, to precisely locate the electrode tip. This report describes a patient in whom two-dimensional echocardiography was used to locate an aberrantly placed pacing catheter, whose position could not be established by conventional studies. Echocardiographic confirmation of the course taken by this pacing catheter has not been previously reported. The catheter was seen to pass from the aorta, through the aortic valve, into the body of the left ventricle.