29 research outputs found
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia:
BACKGROUND: The c.429_452dup24 of the ARX gene is a rare genetic anomaly, leading to X-Linked Intellectual Disability without brain malformation. While in certain cases c.429_452dup24 has been associated with specific clinical patterns such as Partington syndrome, the consequence of this mutation has been also often classified as "non-specific Intellectual Disability". The present work aims at a more precise description of the clinical features linked to the c.429_452dup24 mutation. METHODS: We clinically reviewed all affected patients identified in France over a five-year period, i.e. 27 patients from 12 different families. Detailed cognitive, behavioural, and motor evaluation, as well as standardized videotaped assessments of oro-lingual and gestural praxis, were performed. In a sub-group of 13 ARX patients, kinematic and MRI studies were further accomplished to better characterize the motor impairment prevalent in the ARX patients group. To ensure that data were specific to the ARX gene mutation and did not result from low-cognitive functioning per se, a group of 27 age- and IQ-matched Down syndrome patients served as control. RESULTS: Neuropsychological and motor assessment indicated that the c.429_452dup24 mutation constitutes a recognizable clinical syndrome: ARX patients exhibiting Intellectual Disability, without primary motor impairment, but with a very specific upper limb distal motor apraxia associated with a pathognomonic hand-grip. Patients affected with the so-called Partington syndrome, which involves major hand dystonia and orolingual apraxia, exhibit the most severe symptoms of the disorder. The particular "reach and grip" impairment which was observed in all ARX patients, but not in Down syndrome patients, was further characterized by the kinematic data: (i) loss of preference for the index finger when gripping an object, (ii) major impairment of fourth finger deftness, and (iii) a lack of pronation movements. This lack of distal movement coordination exhibited by ARX patients is associated with the loss of independent digital dexterity and is similar to the distortion of individual finger movements and posture observed in Limb Kinetic Apraxia. CONCLUSION: These findings suggest that the ARX c.429_452dup24 mutation may be a developmental model for Limb Kinetic Apraxia
«La relation de limitation et dâexception dans le français dâaujourdâhui : exceptĂ©, sauf et hormis comme pivots dâune relation algĂ©brique »
Lâanalyse des emplois prĂ©positionnels et des emplois conjonctifs dâ âexceptĂ©â, de âsaufâ et dâ âhormisâ permet dâenvisager les trois prĂ©positions/conjonctions comme le pivot dâun binĂŽme, comme la plaque tournante dâune structure bipolaire. PlacĂ©es au milieu du binĂŽme, ces prĂ©positions sont forcĂ©es par leur sĂ©mantisme originaire dĂ»ment mĂ©taphorisĂ© de jouer le rĂŽle de marqueurs dâinconsĂ©quence systĂ©matique entre lâĂ©lĂ©ment se trouvant Ă leur gauche et celui qui se trouve Ă leur droite. Lâopposition qui surgit entre les deux Ă©lĂ©ments nâest donc pas une incompatibilitĂ© naturelle, intrinsĂšque, mais extrinsĂšque, induite. Dans la plupart des cas (emplois limitatifs), cette opposition prend la forme dâun rapport entre une « classe » et le « membre (soustrait) de la classe », ou bien entre un « tout » et une « partie » ; dans dâautres (emplois exceptifs), cette opposition se manifeste au contraire comme une attaque de front portĂ©e par un « tout » Ă un autre « tout ». De plus, lâinconsĂ©quence induite mise en place par la prĂ©position/conjonction paraĂźt, en principe, tout Ă fait insurmontable. Dans lâassertion « les Ă©cureuils vivent partout, sauf en Australie » (que lâon peut expliciter par « Les Ă©cureuils vivent partout, sauf [quâils ne vivent pas] en Australie »), la prĂ©position semble en effet capable dâimpliquer le prĂ©dicat principal avec signe inverti, et de bĂątir sur une telle implication une sorte de sous Ă©noncĂ© qui, Ă la rigueur, est totalement inconsĂ©quent avec celui qui le prĂ©cĂšde (si « les Ă©cureuils ne vivent pas en Australie », le fait quâils « vivent partout » est faux). NĂ©anmoins, lâanalyse montre quâalors que certaines de ces oppositions peuvent enfin ĂȘtre dĂ©passĂ©es, dâautres ne le peuvent pas. Câest, respectivement, le cas des relations limitatives et des relations exceptives. La relation limitative, impliquant le rapport « tout » - « partie », permet de rĂ©soudre le conflit dans les termes dâune somme algĂ©brique entre deux sous Ă©noncĂ©s pourvus de diffĂ©rent poids informatif et de signe contraire. Les valeurs numĂ©riques des termes de la somme Ă©tant dĂ©sĂ©quilibrĂ©es, le rĂ©sultat est toujours autre que zĂ©ro. La relation exceptive, au contraire, qui nâimplique pas le rapport « tout » - « partie », nâest pas capable de rĂ©soudre le conflit entre deux sous Ă©noncĂ©s pourvus du mĂȘme poids informatif et en mĂȘme temps de signe contraire : les valeurs numĂ©riques des termes de la somme Ă©tant symĂ©triques et Ă©gales, le rĂ©sultat sera toujours Ă©quivalent Ă zĂ©ro
Reduced induction of anti-PF4/heparin antibody in RA patients after total knee arthroplasty
Phenotype and genotype of 87 patients with MowatâWilson syndrome and recommendations for care
Purpose: MowatâWilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotypeâphenotype correlations of MWS. Methods: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations. Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluati
A História da Alimentação: balizas historiogråficas
Os M. pretenderam traçar um quadro da HistĂłria da Alimentação, nĂŁo como um novo ramo epistemolĂłgico da disciplina, mas como um campo em desenvolvimento de prĂĄticas e atividades especializadas, incluindo pesquisa, formação, publicaçÔes, associaçÔes, encontros acadĂȘmicos, etc. Um breve relato das condiçÔes em que tal campo se assentou faz-se preceder de um panorama dos estudos de alimentação e temas correia tos, em geral, segundo cinco abardagens Ia biolĂłgica, a econĂŽmica, a social, a cultural e a filosĂłfica!, assim como da identificação das contribuiçÔes mais relevantes da Antropologia, Arqueologia, Sociologia e Geografia. A fim de comentar a multiforme e volumosa bibliografia histĂłrica, foi ela organizada segundo critĂ©rios morfolĂłgicos. A seguir, alguns tĂłpicos importantes mereceram tratamento Ă parte: a fome, o alimento e o domĂnio religioso, as descobertas europĂ©ias e a difusĂŁo mundial de alimentos, gosto e gastronomia. O artigo se encerra com um rĂĄpido balanço crĂtico da historiografia brasileira sobre o tema
Technical Evaluation of the Novel Preanalytical Module on Instrumentation Laboratory ACL TOP
Automation in hemostasis testing is entering an exciting and unprecedented phase. This study was planned to assess the performance of the new preanalytical module on the hemostasis testing system Instrumentation Laboratory ACL TOP. The evaluation included interference studies to define reliable thresholds for rejecting samples with significant concentrations of interfering substances; within-run imprecision studies of plasma indices on four different interference degrees for each index; comparison studies with reference measures of hemolysis index, bilirubin, and triglycerides on clinical chemistry analyzers; and calculation of turnaround time with and without automatic performance of preanalytical check. The upper limits for sample rejection according to our interference studies were 3.6 g/L for hemoglobin, 13.6 mg/dL for bilirubin, and 1454 mg/dL for triglycerides. We found optimal precision for all indices (0.6% to 3.1% at clinically relevant thresholds) and highly significant correlations with reference measures on clinical chemistry analyzers (from 0.985 to 0.998). The limited increase of turnaround time (i.e., +3% and +5% with or without cap-piercing), coupled with no adjunctive costs over performance of normal coagulation assays, contribute to make the automatic check of plasma indices on ACL TOP a reliable and practical approach for improving testing quality and safeguarding patient safety
Association between D-Dimer levels and mortality in patients with coronavirus disease 2019 (COVID-19): a systematic review and pooled analysis
International audienceBackground: Several observational studies have reported elevated baseline D-dimer levels in patients hospitalized for moderate to severe coronavirus disease 2019 (COVID-19). These elevated baseline D-dimer levels have been associated with disease severity and mortality in retrospective cohorts.Objectives: To review current available data on the association between D-Dimer levels and mortality in patients admitted to hospital for COVID-19.Methods: We performed a systematic review of published studies using MEDLINE and EMBASE through 13 April 2020. Two authors independently screened all records and extracted the outcomes. A random effects model was used to estimate the standardized mean difference (SMD) with 95% confidence intervals (CI).Results: Six original studies enrolling 1355 hospitalized patients with moderate to critical COVID-19 (391 in the non-survivor group and 964 in the survivor group) were considered for the final pooled analysis. When pooling together the results of these studies, D-Dimer levels were found to be higher in non-survivors than in-survivors. The SMD in D-Dimer levels between non-survivors and survivors was 3.59ÎŒg/L (95% CI 2.79-4.40ÎŒg/L), and the Z-score for overall effect was 8.74 (P<0.00001), with a high heterogeneity across studies (I2=95%).Conclusions: Despite high heterogeneity across included studies, the present pooled analysis indicates that D-Dimer levels are significantly associated with the risk of mortality in COVID-19 patients. Early integration of D-Dimer testing, which is a rapid, inexpensive, and easily accessible biological test, can be useful to better risk stratification and management of COVID-19 patients
Intellectual functioning of adults with Silver-Russell syndrome due to IGF2/H19 hypomethylation in the 11p15 region
International audienc