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71.
Identification of a defective factor XI cross-reacting material in a factor XI-deficient patient 总被引:1,自引:2,他引:1
A homozygous factor XI-deficient girl, who appeared to be positive for cross-reacting material (CRM+) was studied for clarification. Factor XI antigen (F XI:Ag) was measured by radial immunodiffusion using monospecific, heterologous anti-factor XI antibodies. Factor XI coagulant activity (F XI:C) was determined in a modified activated partial thromboplastin time (APTT) test. The ratio of F XI:C to F XI:Ag was 0.04 for the proposita, as compared with 0.7 to 0.74 in the other family members. In contrast, 12 normal individuals had ratios of F XI:C to F XI:Ag of 1.04 +/- 0.15. F XI esterolytic activity was clearly higher than F XI:C in the proband, but not in her relatives. Immunoblotting studies demonstrated F XI CRM in the patient's plasma. Chromatography on diethylaminoethanol (DEAE)-Sephadex at pH 8.4 led to an almost complete removal of F XI from the plasma. The defective F XI was not bound to a negatively charged kaolin surface due to an abnormal interaction with high-mol-wt kininogen (HMWK). 相似文献
72.
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions 总被引:8,自引:13,他引:8
Holmberg M; Duyckaerts C; Durr A; Cancel G; Gourfinkel-An I; Damier P; Faucheux B; Trottier Y; Hirsch EC; Agid Y; Brice A 《Human molecular genetics》1998,7(5):913-918
Autosomal dominant cerebellar ataxia with progressive macular degeneration
is caused by a CAG/glutamine repeat expansion in the SCA7 gene/protein.
Neuronal intranuclear inclusions were detected in the brain of an early
onset SCA7 case with the 1C2 antibody directed against an expanded
polyglutamine domain. Nuclear inclusions were most frequent in the inferior
olivary complex, a site of severe neuronal loss in SCA7. They were also
observed in other brain regions, including the cerebral cortex, not
considered to be affected in the disease. Using confocal microscopy we
showed that some inclusions were ubiquitinated, but to varying degrees,
ranging from <1% in the cerebral cortex to 60% in the inferior olive. In
addition, we also observed cytoplasmic staining using the 1C2 antibody,
particularly in the supramarginal gyrus, the hippocampus, the thalamus, the
lateral geniculate body and the pontine nuclei. These data confirm that the
presence of intranuclear inclusions in neurons is a common characteristic
of disorders caused by CAG/polyglutamine expansions, but unlike what has
been reported for Huntington's disease, SCA1 and SCA3/MJD, in SCA7 the
inclusions were not restricted to the sites of severe neuronal loss.
相似文献
73.
Dr. Hugo Deutsch 《Journal of molecular medicine (Berlin, Germany)》1933,12(27):1059-1060
Ohne Zusammenfassung 相似文献
74.
75.
Laura Coots Daras Anne Deutsch Melvin J. Ingber Jennifer Gaudet Hefele Jennifer Perloff 《Topics in stroke rehabilitation》2021,28(1):61-71
ABSTRACT
Background
Stroke is the leading cause for admission to the nearly 1,200 Inpatient Rehabilitation Facilities (IRFs) nationally in the US. For many patients, post-acute care is an important component of their rehabilitation. Several quality measures have been publicly reported for post-acute care providers, including hospital readmissions. However, to date none have focused on specific medical conditions, limiting the usability for patients and quality improvement. 相似文献76.
Mulkerrin EC; Clark BA; Epstein FH 《QJM : monthly journal of the Association of Physicians》1997,90(6):411-415
We studied blood pressure and natriuretic responses to acute salt loading,
and the effect of non-steroidal anti-inflammatory agents on these
responses, in five healthy normotensive women aged 65 to 71 years. Five
women aged 25 to 31 years acted as controls. Intravenous saline loading,
with and without prior ingestion of ibuprofen, was 15 ml/kg/h for 3 h.
Baseline blood pressures were higher in the elderly. Saline infusion
without ibuprofen raised systolic blood pressure (SBP) by about 25 mmHg in
the older group only. Ibuprofen increased baseline SBP in the elderly (129
+/- 6 vs. 116 +/- 5 mmHg, p < 0.05). Saline loading after ibuprofen
again raised blood pressure by about 25 mmHg in the elderly only. The
elderly group showed markedly increased sodium excretion during saline
loading, but this was reduced by ibuprofen. Ibuprofen had no effect on SBP
or sodium excretion in controls. Ageing appears to increase susceptibility
to salt retention and hypertension from non-steroidal anti-inflammatory
agents.
相似文献
77.
78.
Hoeft F Meyler A Hernandez A Juel C Taylor-Hill H Martindale JL McMillon G Kolchugina G Black JM Faizi A Deutsch GK Siok WT Reiss AL Whitfield-Gabrieli S Gabrieli JD 《Proceedings of the National Academy of Sciences of the United States of America》2007,104(10):4234-4239
In functional neuroimaging studies, individuals with dyslexia frequently exhibit both hypoactivation, often in the left parietotemporal cortex, and hyperactivation, often in the left inferior frontal cortex, but there has been no evidence to suggest how to interpret the differential relations of hypoactivation and hyperactivation to dyslexia. To address this question, we measured brain activation by functional MRI during visual word rhyme judgment compared with visual cross-hair fixation rest, and we measured gray matter morphology by voxel-based morphometry in dyslexic adolescents in comparison with (i) an age-matched group, and (ii) a reading-matched group younger than the dyslexic group but equal to the dyslexic group in reading performance. Relative to the age-matched group (n = 19; mean 14.4 years), the dyslexic group (n = 19; mean 14.4 years) exhibited hypoactivation in left parietal and bilateral fusiform cortices and hyperactivation in left inferior and middle frontal gyri, caudate, and thalamus. Relative to the reading-matched group (n = 12; mean 9.8 years), the dyslexic group (n = 12; mean 14.5 years) also exhibited hypoactivation in left parietal and fusiform regions but equal activation in all four areas that had exhibited hyperactivation relative to age-matched controls as well. In regions that exhibited atypical activation in the dyslexic group, only the left parietal region exhibited reduced gray matter volume relative to both control groups. Thus, areas of hyperactivation in dyslexia reflected processes related to the level of current reading ability independent of dyslexia. In contrast, areas of hypoactivation in dyslexia reflected functional atypicalities related to dyslexia itself, independent of current reading ability, and related to atypical brain morphology in dyslexia. 相似文献
79.
Soultati AS Dourakis SP Alexopoulou A Deutsch M Archimandritis AJ 《World journal of gastroenterology : WJG》2007,13(8):1292-1294
Classical interferon-alpha has been shown to be correlated with the development of a variety of autoimmune disorders. A 38 year-old female patient developed simultaneously diabetic ketoacidosis and hyperthyroidism 5 mo following initiation of treatment with pegylated interferon-α and ribavirin for chronic hepatitis C. High titers of glutamic acid decarboxylase, antinuclear and thyroid (thyroid peroxidase and thyroglobulin) antibodies were detected. Antiviral treatment was withdrawn and the patient was treated with insulin for insulin-dependent diabetes mellitus and propranolol for hyperthyroidism. Twelve months after cessation of pegylated interferon-α therapy the patient was euthyroid without any medication but remained insulin-dependent. 相似文献
80.
OBJECTIVES: Cysteamine prevents organ damage in children with cystinosis, but may cause gastrointestinal (GI) symptoms. In this study we evaluated the nature of GI disease, and the value of omeprazole in controlling GI symptoms in these children. STUDY DESIGN: Upper GI disease was evaluated with endoscopy, gastrin levels, and acid secretion studies after oral administration of cysteamine, before and after 16 weeks of therapy with omeprazole. A symptom score was devised. RESULTS: Eleven children (mean age, 5.7 years) were studied. After cysteamine ingestion, before and after omeprazole therapy, the mean maximum acid output was significantly higher than the mean basal acid output. The maximum acid output was measured within 60 minutes of cysteamine ingestion and was reduced by omeprazole therapy (P<.01). The mean peak gastrin level was 30 minutes postcysteamine and was higher than baseline (P<.01). The initial mean symptom score (maximum score, 14) was 6.9 and fell to 0.7 (P<.0001) after 16 weeks of omeprazole therapy. At endoscopy, two children had diffuse gastric nodularity, and nearly all had cystine crystal deposits. CONCLUSIONS: GI symptoms in children with cystinosis receiving cysteamine are often acid-mediated and improve with omeprazole. Cystine crystals were detected in the GI tract and may signify inadequate treatment with cysteamine. 相似文献