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53.
Unusual pulmonary Enterocytozoon bieneusi microsporidiosis in an AIDS patient: case report and review 总被引:1,自引:0,他引:1
Sodqi M Brazille P Gonzalez-Canali G Cornet M Piketty C Weiss L 《Scandinavian journal of infectious diseases》2004,36(3):230-231
Enterocytozoon bieneusi is an agent of intestinal microsporidiosis leading to chronic diarrhoea in AIDS patients. Pulmonary involvement may occur but remains rare with only 4 cases reported in the literature. We report here the fifth case of pulmonary localization of E. bieneusi in a severe immunocompromized HIV-infected patient with intestinal and pulmonary symptoms. 相似文献
54.
Hepatitis C virus-associated hypobetalipoproteinemia is correlated with plasma viral load,steatosis, and liver fibrosis 总被引:3,自引:0,他引:3
Petit JM Benichou M Duvillard L Jooste V Bour JB Minello A Verges B Brun JM Gambert P Hillon P 《The American journal of gastroenterology》2003,98(5):1150-1154
OBJECTIVES: A relationship between chronic hepatitis C virus (HCV) infection and lipid metabolism has recently been suggested. The aim of this study was to determine the correlation between lipid profile and virology, histologic lesions, and response to alpha interferon therapy in noncirrhotic, nondiabetic patients with hepatitis C. METHODS: A total of 109 consecutive untreated chronic hepatitis C patients were studied to assess the following: 1) the effects of HCV genotype, viral load, steatosis, hepatic fibrosis, and body mass index (BMI) on lipid profile; and 2) whether lipid parameters could predict response to antiviral therapy. RESULTS: The control group showed a significantly higher apolipoprotein B (apoB) concentration compared with patients with chronic hepatitis C. Hypobetalipoproteinemia (apo B <0.7 g/L) was found in 27 (24.7%) chronic HCV patients and in five (5.3%) control subjects (p = 0.0002). Levels of apo B were negatively correlated with steatosis and HCV viral load (r = -0.22; p = 0.03). This last correlation was strong for non-1 genotype and genotype 3 (r = -0.48; p = 0.0005, and r = -0.47; p = 0.007, respectively) but was not found in genotype 1. In multivariate analysis, low apo B concentration was significantly associated with fibrosis grade 2 or 3 versus grade 0 or 1 (p < 0.001), steatosis >5% (p < 0.001), low body mass index (p < 0.001), and high HCV viral load (p < 0.014). No correlation was found in the 76 treated patients between apo B and response to interferon therapy. CONCLUSIONS: In chronic HCV patients, hypobetalipoproteinemia occurs already in the early stages of HCV infection before the development of liver cirrhosis. The correlation between apo B levels and HCV viral load seems to confirm the interaction between hepatitis C infection and beta-lipoprotein metabolism. 相似文献
55.
Raigal Martín MY Lledó Navarro JL Raigal Martín JM Muriel Patino E Pérez Pérez E Moreno Prat M 《Gastroenterologia y hepatologia》2008,31(4):225-228
Acute intermittent porphyria is an autosomal dominant inherited disorder resulting from a deficiency of porphobilinogen deaminase activity, the third enzyme in the heme biosynthesis pathway. This disease is uncommon, although the prevalence is higher in asymptomatic heterozygotic carriers; however, this prevalence is difficult to establish because of the absence of symptoms. Although acute intermittent porphyria is a multisystemic disease, its most common form of presentation is abdominal pain and neurological or mental symptoms, which can sometimes be due to precipitating factors such as reduced energy intake, smoking, alcohol, some drugs, and stress. Diagnosis can be made by testing urinary porphobilinogen levels, with subsequent measurement of enzyme activity and DNA testing. Treatment is based on prevention of porphyria attacks by avoiding precipitating factors and early administration of intravenous glucose or hemin therapy. We present the case of a patient diagnosed with acute intermittent porphyria based on study of chronic mild alanine aminotransferase (ALT) elevation. 相似文献
56.
Diagnosis and treatment of acromegaly complications 总被引:4,自引:0,他引:4
Giustina A Casanueva FF Cavagnini F Chanson P Clemmons D Frohman LA Gaillard R Ho K Jaquet P Kleinberg DL Lamberts SW Lombardi G Sheppard M Strasburger CJ Vance ML Wass JA Melmed S;Pituitary Society the European Neuroendocrine Association 《Journal of endocrinological investigation》2003,26(12):1242-1247
The Pituitary Society in conjunction with the European Neuroendocrine Association held a consensus workshop to develop guidelines for diagnosis and treatment of the co-morbid complications of acromegaly. Fifty nine pituitary specialists (endocrinologists, neurosurgeons and cardiologists) assessed the current published literature on acromegaly complications in light of recent advances in maintaining tight therapeutic control of GH hypersecretion. The impact of elevated GH levels on cardiovascular disease, hypertension, diabetes, sleep apnea, colon polyps, bone disease, reproductive disorders, and neuropsychologic complications were considered. Guidelines are proposed for effective management of these complications in the context of overall acromegaly control. When appropriate, requirements for prospective evidence-based studies and surveillance database development are enunciated. Effective management of co-morbid acromegaly complications will lead to improved morbidity and mortality in acromegaly. 相似文献
57.
Bourdel-Marchasson I Vincent S Germain C Salles N Jenn J Rasoamanarivo E Emeriau JP Rainfray M Richard-Harston S 《The journals of gerontology. Series A, Biological sciences and medical sciences》2004,59(4):350-354
OBJECTIVE: To assess the effects of delirium on the institutionalization rate, taking into account geriatric syndromes and nutritional status. METHODS: This population-based study took place in an acute care unit and included participants older than 75 years, arriving from home and later discharged. Confusion Assessment Method (CAM) symptoms were recorded by the nurses within 24 hours after admission and every 3 days. Delirium was defined using the CAM algorithm, and subsyndromal delirium responded to symptoms not fulfilling the CAM algorithm. These delirium categories were either present at admission (prevalent) or occurred during the hospital stay (incident). Participants were classified as having a low dietary intake when energy intake was at any time lower than 600 kcal/d. Age, sex, known cognitive impairment, weight, functional dependency, and laboratory testing as well as diagnoses were also recorded. Step-by-step backward logistic regression was used to identify predictors of institutionalization. RESULTS: Among 427 patients, 310 (72.6%) were discharged and were compared with 117 (27.4%) participants admitted to an institution. Female sex (odds ratio [OR]: OR 2.15, 95% confidence interval [CI]: CI 1.22-3.78), prevalent delirium (OR 3.19, 95% CI 1.33-7.64), subsyndromal delirium (OR 2.72, 95% CI 1.48-5.01), incident subsyndromal delirium (OR 4.27, 95% CI 2.17-8.39), low dietary intake (OR 2.50, 95% CI 1.35-4.63), and a fall (OR 2.16, 95% CI 1.22-3.84) or a diagnosis of stroke (OR 2.03, 95% CI 1.04-3.94) were independent predictors of institutionalization. CONCLUSIONS: Symptoms of delirium and severe nutritional impairment led patients to geriatric institutions. Therefore, these institutions need to implement policies that address both of these issues. 相似文献
58.
Dr. John J. Norcini PhD Harry R. Kimball MD Louis J. Grosso MEd Susan C. Day MD Rebecca A. Baranowski MEd Muriel W. Horne 《Journal of general internal medicine》1994,9(7):361-365
Objective: To determine whether changes in the demographic/educational mix of those entering internal medicine from 1986 to 1989 were
associated with differences among them at the time of certification.
Participants: Included in the study were all candidates for the 1989 to 1992 American Board of Internal Medicine certifying examinations
in internal medicine.
Measurements: Demographic information and medical school, residency training, and examination experience were available for each candidate.
Data defining quality, size, and number of subspecialties were available for internal medicine training programs.
Results: From 1990 to 1992, the total number of men and women candidates increased as did the numbers of foreign-citizen non-U.S.
medical school graduates and osteopathic medical school graduates; the number of U.S. medical school graduates remained nearly
constant and the number of U.S.-citizen graduates of non-U.S. medical schools declined. The pass rates for all groups of first-time
examination takers decreased, while the ratings of program directors remained relatively constant. Program quality, size,
and number of subspecialty programs had modest positive relationships with examination performance.
Conclusions: Changes in the characteristics of those entering internal medicine from 1986 to 1989 were associated with declines in performance
at the time of certification. These declines occurred in all content areas of the test and were apparent regardless of program
quality. These data identify some of the challenges internal medicine faces in the years ahead.
Received from the American Board of Internal Medicine, Philadelphia, Pennsylvania.
This research was supported by the American Board of Internal Medicine but does not necessarily reflect its opinions or policies. 相似文献
59.
Camille Cenni Stephanie Andres Maja Hempel Tim M. Strom Ellen Thomas Angela Davies Norma Timoney Alessandra Frigiola Malcolm Logan Muriel Holder-Espinasse 《European journal of medical genetics》2021,64(7):104213
Holt-Oram syndrome (HOS) is a rare, autosomal dominant heart-hand syndrome caused by mutations in the TBX5 gene. A wide spectrum of TBX5 mutations have been reported previously, most resulting in a null allele leading to haploinsufficiency. TBX5 gene duplications have been previously reported in association with typical and atypical HOS phenotypes. Ulnar-Mammary syndrome (UMS) is a distinct rare, autosomal dominant condition caused by mutations in the TBX3 gene. TBX5 and TBX3 are physically linked in cis on human chromosome 12 and contiguous chromosome 12q24 deletions comprising both TBX5 and TBX3 genes have been previously reported but to our knowledge, duplications have never been described. We report on a large German family with at least 17 affected individuals over 6 generations bearing a duplication at 12q24.21 identified on array-CGH comprising both TBX5 and TBX3 genes. Affected patients are presenting with HOS and UMS symptoms, consisting of variable limb anomalies involving the radial and the ulnar rays and cardiac findings such as congenital heart defects, persistent arterial duct or aortic stenosis, and non-classical symptoms, such as supernumerary nipples and cardiomyopathy. Fluorescence in situ hybridisation confirmed a tandem duplication at the 12q24.21 locus. This is the first report of a contiguous TBX3/TBX5 duplication associated with HOS/UMS phenotype. 相似文献
60.
Clara Debarle Vincent Perlbarg Alice Jacquens Mélanie Pélégrini-Issac Marion Bisch Amélie Prigent Blandine Lesimple Elsa Caron Muriel Lefort Eléonore Bayen Damien Galanaud Pascale Pradat-Diehl Louis Puybasset Vincent Degos 《Annals of physical and rehabilitation medicine》2021,64(2):101433
BackgroundTraumatic brain injury (TBI) is a chronic pathology responsible for cognitive disorders impacting outcome. Global clinical outcome several years after TBI may be associated with anatomical sequelae. Anatomical lesions are not well described because characterizing diffuse axonal injury and brain atrophy require using specific MRI sequences with quantitative measures. The best radiologic parameter to describe the lesions long term after TBI is not known.ObjectiveWe aimed to first, assess the global volumetric and diffusion parameters related to long-term outcome after TBI and second, define the most discriminating parameter.MethodsIn this observational study, we included 96 patients with severe TBI and 22 healthy volunteers. The mean delay after TBI was 63.2 months [range 31–119]. The Glasgow Outcome Scale Extended (GOS-E) was used to assess the global long-term clinical outcome. All patients underwent multimodal MRI with measures of brain volume, ventricle volume, global fractional anisotropy (FA) and global mean diffusivity (MD).ResultsAll 96 participants had significant impairment in global FA, global MD, brain volume and ventricle volume as compared with the 22 controls (P < 0.01). Only global MD significantly differed between the “good recovery” group (GOS-E score 7-8) and the other two groups: GOS-E scores 3-4 and 5-6. Brain volume significantly differed between the GOS-E 7-8 and 3-4 groups. Global MD was the most discriminating radiological parameter for the “good recovery” group versus other patients, long term after TBI. FA appeared less relevant at this time. Global atrophy was higher in patients than controls but lacked reliability to discriminate groups of patients.ConclusionGlobal mean diffusivity seems a more promising radiomarker than global FA for discriminating good outcome long term after TBI. Further work is needed to understand the evolution of these long-term radiological parameters after TBI. 相似文献