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41.
Amy L. Schneider Candace T. Myers Alison M. Muir Sophie Calvert Alice Basinger M. Scott Perry Lance Rodan Katherine L. Helbig Chelsea Chambers Kathleen M. Gorman Mary D. King Sandra Donkervoort Ariane Soldatos Carsten G. Bnnemann Nino Spataro Elisabeth Gabau Montserrat Arellano Gerarda Cappuccio Nicola Brunetti‐Pierri Elsa Rossignol Fadi F. Hamdan Jacques L. Michaud Christopher Balak Heather C. Mefford Ingrid E. Scheffer 《Epilepsia》2021,62(1):e13-e21
Chromosome 1q41‐q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies. Two genes in the 1q41‐q42 microdeletion, WDR26 and FBXO28, have been implicated in monogenic disease. Patients with WDR26 encephalopathy overlap clinically with those with 1q41‐q42 deletion syndrome, whereas only one patient with FBXO28 encephalopathy has been described. Seizures are a prominent feature of 1q41‐q42 deletion syndrome; therefore, we hypothesized that pathogenic FBXO28 variants cause developmental and epileptic encephalopathies (DEEs). We describe nine new patients with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and analyze all 10 known cases to delineate the phenotypic spectrum. All patients had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features, albeit different to those typically seen in 1q41‐q42 deletion syndrome and WDR26 encephalopathy. We distinguish FBXO28 encephalopathy from both of these disorders with more severe intellectual impairment, drug‐resistant epilepsy, and hyperkinetic movement disorders. 相似文献
42.
Elsa Vitale Letizia Lotito Rosita Belinda Maglie 《Immunopharmacology and immunotoxicology》2013,35(1):39-50
Recent clinical reports have shown an increasing number of patients afflicted by eating disorders in the western world. There are numerous causes and mechanisms leading to eating disorders that affect the psychoneuroendocrinoimmune system. In this study, we define a novel psychoneuroendocrinoimmune nursing approach for anorexic and bulimic patients’ treatment. According to the specific diagnostic items deriving from the Diagnostic and Statistical Manual of Mental Disorders and the International Classification of Diseases, and clinical guidelines in eating disorders formulated by the National Institute for Clinical Excellence, we carried out a qualitative study on the nursing treatment chosen by 210 international centers considered as a sample. This study was based on a no structured interview via e-mail to better understand the nursing approach in anorexia and bulimia nervosa. Thanks to the selected centers’ answers, four different levels of nursing care were identified, that include:
the nursing role analyzing the spectrum of patients’ problems;
the nursing intervention in inpatient care;
the nursing intervention in outpatient care;
the day hospital treatment.
43.
Cristina Costa Antonio Curtoni Francesca Sidoti Cinzia Balloco Salvatore Simeone Samantha Mantovani Elsa Piasentin Alessio Daniela Libertucci Luisa Delsedime Paolo Solidoro Sergio Baldi Rossana Cavallo 《Archives of virology》2013,158(7):1461-1465
The role of human cytomegalovirus (HCMV) in lung transplantation (LT) and drawbacks related to viral quantification in bronchoalveolar lavage (BAL) underline the potential usefulness of investigating other specimens. Thirty-three LT recipients were prospectively studied by HCMV quantitative real time PCR on matched transbronchial biopsy (TBB), BAL, and whole blood specimens. Overall, 27/33 patients turned out HCMV-positive in at least one specimen: 7.1 %, 37.1 %, and 13.5 % of TBB, BAL, and blood samples, respectively. No significant association between HCMV on all types of specimens and acute rejection, lymphocytic bronchiolitis, bronchiolitis obliterans and bronchiolitis obliterans syndrome was found. HCMV pneumonia was associated to HCMV detection on TBB (p = 0.003) and whole blood (p = 0.008), not on BAL (p = 0.47). The highest mean viral load was detected in TBB from cases with HCMV pneumonia in comparison to all other cases, suggesting the potential use of HCMV investigation in TBB for evaluating posttransplant complications. 相似文献
44.
Gil-Gouveia Raquel Marques Inês Brás Parreira Elsa Paixão Martins Isabel Pavão Oliveira António Gouveia 《Neurological sciences》2021,42(10):4163-4174
Neurological Sciences - This study aimed to validate a semi-quantitative composite score tool, “Headache Gauge” (HG), to monitor the treatment effect in primary headaches in everyday... 相似文献
45.
46.
Seguier Julie Briantais Antoine Ebbo Mikael Meunier Benoit Aurran Thérèse Coze Stéphanie Kaphan Elsa De Sainte Marie Benjamin Sbihi Zineb Latour Sylvain Cerf-Bensussan Nadine Picard Capucine Vély Frédéric Barlogis Vincent Schleinitz Nicolas 《Journal of clinical immunology》2021,41(8):1975-1978
Journal of Clinical Immunology - 相似文献
47.
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
48.
Ciprofloxacin and norfloxacin for selective decontamination in patients with severe granulocytopenia
Dr. med. G. Maschmeyer Dr. med. Elsa Haralambie Prof. Dr. W. Gaus Dr. med. W. Kern A. W. Dekker M.D. H. G. de Vries-Hospers M.D. W. Sizoo M.D. Prof. Dr. W. König Dr. med. F. Gutzler S. Daenen M.D. 《Infection》1988,16(2):98-104
Summary In a randomized multicenter study, ciprofloxacin and norfloxacin, each in two different dose regimens and in combination with non-absorbable antimycotics, were administered to 51 patients with acute leukaemia undergoing aggressive remission induction chemotherapy for infection prevention. Both drugs showed an effective elimination of gram-negative potential pathogens andStaphylococcus aureus not affecting the anaerobic flora of the gastrointestinal tract. A low incidence of side effects and a satisfactory patient compliance could be observed. A daily dosage of 1,000 mg ciprofloxacin or 800 mg norfloxacin is recommended for infection prevention in severely granulocytopenic patients.
For the E.O.R.T.C. Gnotobiotic Project Group. 相似文献
Ciprofloxacin und Norfloxacin zur selektiven Dekontamination bei Patienten mit schwerer Granulozytopenie
Zusammenfassung In einer randomisierten multizentrischen Studie wurden 51 Patienten mit akuter Leukämie, die sich einer aggressiven Chemotherapie zur Remissionsinduktion unterzogen, mit Ciprofloxacin oder Norfloxacin, jeweils in zwei unterschiedlichen Dosierungen und in Kombination mit einem nicht resorbierbaren Antimykotikum, zur Infektionsprävention behandelt. Mit beiden Substanzen wurde eine effektive Elimination potentiell pathogener gram-negativer Bakterien undStaphylococcus aureus erreicht, während die anaerobe Darmflora nicht beeinflußt wurde. Es wurde nur eine geringe Inzidenz von Nebenwirkungen bei zufriedenstellender Patientencompliance beobachtet. Als Tagesdosis zur Infektionsprävention bei schwer granulozytopenischen Patienten sollten 1000 mg Ciprofloxacin oder 800 mg Norfloxacin verabreicht werden.
For the E.O.R.T.C. Gnotobiotic Project Group. 相似文献
49.
Dr. C. Lidman M. D. Dr. O. Berglund M. D. Dr. S. Lindbäck M. D. Dr. Elsa Tynell 《Infection》1993,21(3):146-149
Summary The efficacy and toxicity of aerosolized pentamidine was evaluated in 78 AIDS patients given 60 mg biweekly as secondary prophylaxis againstPneumocystis carinii pneumonia (PCP). Patients were monitored for clinical progression and mortality and were compared to 42 historical controls given 200–300 mg i. v. pentamidine biweekly. The relapse rates did not differ markedly between the two groups, and the PCP-free rates in survivors were at 12 months 0.83 and 0.77, respectively. Seventy-one new AIDS-defining events and 25 deaths were recorded in patients on aerosolized pentamidine compared to 29 AIDS events and two deaths in patients on intravenous pentamidine. Recurrent PCP contributed to death in only one case of the aerosolized pentamidine group. PCP is not a serious clinical problem in immunodeficient patients taking pentamidine prophylaxis by either route compared to the progression of clinical HIV disease and death.
Sekundär-Prophylaxe der Pneumocystis carinii-Pneumonie mit Pentamidin über Vernebler oder i. v.
Zusammenfassung Bei 78 AIDS- Patienten wurde eine Sekundär-Prophylaxe gegen diePneumocystis carinii- Pneumonie (PCP) mit Pentamidin in einer Dosis von 60 mg alle zwei Wochen durchgeführt. Dabei wurde die Wirksamkeit und Toxizität der über Vernebler als Aerosol verabreichten Form geprüft. Die Patienten wurden hinsichtlich klinischer Progression und Mortalität ausgewertet. Die Ergebnisse wurden mit 42 historischen Kontrollen verglichen, bei denen alle zwei Wochen 200–300 mg Pentamidin i. v. verabreicht worden war. Die beiden Gruppen unterschieden sich nicht wesentlich in den Rezidivraten. Bei den Patienten, die 12 Monate überlebten, waren die PCP-freien Raten 0,83 und 0,77 in den beiden Gruppen. Bei Patienten, die die Aerosol-Form erhielten, waren 71 neue AIDS-definierende Episoden und 25 Todesfälle, bei den i. v. behandelten Patienten 29 Episoden und zwei Todesfälle aufgetreten. In nur einem Fall der Studiengruppe war ein PCP-Rezidiv für den Tod mit verantwortlich. Bei beiden Applikationsformen von Pentamidin stellt die PCP bei immundefizienten HIV-infizierten Patienten, die die Prophylaxe durchführen, verglichen mit der Progression der durch HIV- verursachten Krankheit und Mortalität, kein wesentliches Problem dar.相似文献
50.
Bhutta ZA Ahmed T Black RE Cousens S Dewey K Giugliani E Haider BA Kirkwood B Morris SS Sachdev HP Shekar M;Maternal Child Undernutrition Study Group 《Lancet》2008,371(9610):417-440
We reviewed interventions that affect maternal and child undernutrition and nutrition-related outcomes. These interventions included promotion of breastfeeding; strategies to promote complementary feeding, with or without provision of food supplements; micronutrient interventions; general supportive strategies to improve family and community nutrition; and reduction of disease burden (promotion of handwashing and strategies to reduce the burden of malaria in pregnancy). We showed that although strategies for breastfeeding promotion have a large effect on survival, their effect on stunting is small. In populations with sufficient food, education about complementary feeding increased height-for-age Z score by 0.25 (95% CI 0.01-0.49), whereas provision of food supplements (with or without education) in populations with insufficient food increased the height-for-age Z score by 0.41 (0.05-0.76). Management of severe acute malnutrition according to WHO guidelines reduced the case-fatality rate by 55% (risk ratio 0.45, 0.32-0.62), and recent studies suggest that newer commodities, such as ready-to-use therapeutic foods, can be used to manage severe acute malnutrition in community settings. Effective micronutrient interventions for pregnant women included supplementation with iron folate (which increased haemoglobin at term by 12 g/L, 2.93-21.07) and micronutrients (which reduced the risk of low birthweight at term by 16% (relative risk 0.84, 0.74-0.95). Recommended micronutrient interventions for children included strategies for supplementation of vitamin A (in the neonatal period and late infancy), preventive zinc supplements, iron supplements for children in areas where malaria is not endemic, and universal promotion of iodised salt. We used a cohort model to assess the potential effect of these interventions on mothers and children in the 36 countries that have 90% of children with stunted linear growth. The model showed that existing interventions that were designed to improve nutrition and prevent related disease could reduce stunting at 36 months by 36%; mortality between birth and 36 months by about 25%; and disability-adjusted life-years associated with stunting, severe wasting, intrauterine growth restriction, and micronutrient deficiencies by about 25%. To eliminate stunting in the longer term, these interventions should be supplemented by improvements in the underlying determinants of undernutrition, such as poverty, poor education, disease burden, and lack of women's empowerment. 相似文献