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Houx L.,Brest University Hospital Center | Hachulla E.,University of Lille Nord de France | Kone-Paut I.,Kremlin Bicetre University Hospital | Quartier P.,University of Paris Descartes | And 31 more authors.
Arthritis and Rheumatology

Objective To determine the type and frequency of musculoskeletal symptoms at onset and during followup of cryopyrin-associated periodic syndromes (CAPS). Methods We retrospectively recorded the articular and muscular symptoms of patients with CAPS followed up in French hospitals. Data were presented as frequencies or the median (range), and patient groups were compared using chi-square test, Fisher's exact test, and Mann-Whitney test. Results The study included 133 patients (33 children), 20 with familial cold autoinflammatory syndrome, 88 with Muckle-Wells syndrome, 22 with chronic infantile neurologic, cutaneous, articular syndrome, and 3 with unclassified CAPS. The median age was 35 years (range 0-78 years) at the time of the study, 1 year (range 0-41 years) at symptom onset, and 23 years (range 0-58 years) at diagnosis. The disease was sporadic in 17% of the patients. Cutaneous symptoms predominated at onset (77%), followed by articular symptoms (30%). The p.Thr348Met and p.Arg260Trp NLRP3 mutations were significantly associated with the presence and absence of articular symptoms at onset, respectively. During followup, 86% of the patients had musculoskeletal symptoms, 88% had arthralgia, and 58% had arthritis, but only 9% had joint destruction. Tendinopathies occurred in 21.5% of the patients, tender points in 16.5%, and myalgia in 33%. Only 3 patients had typical knee deformities. Radiographs were rarely obtained. Except for bone deformities, osteoarticular symptoms occurred at similar frequencies in the different CAPS phenotypes. Conclusion Joint manifestations were frequent in all CAPS phenotypes. Bone deformities were rare. Musculoskeletal manifestations varied within given families but tended to worsen over time. © 2015, American College of Rheumatology. Source

Zahar J.-R.,Necker University Hospital Paris | Timsit J.-F.,French Institute of Health and Medical Research | Timsit J.-F.,Joseph Fourier University | Garrouste-Orgeas M.,Medical Surgical ICU | And 9 more authors.
Critical Care Medicine

Objectives: We evaluated the respective influence of the causative pathogen and infection site on hospital mortality from severe sepsis related to community-, hospital-, and intensive care unit-acquired infections. Design: We used a prospective observational cohort 10-yr database. We built a subdistribution hazards model with corrections for competing risks and adjustment for potential confounders including early appropriate antimicrobial therapy. Setting: Twelve intensive care units. Patients: We included 4,006 first episodes of acquisition-site-specific severe sepsis in 3,588 patients. INTEVENTIONS:: None. Measurements and Main Results: We included 1562 community-acquired, 1432 hospital-acquired, and 1012 intensive care unit-acquired episodes of severe sepsis. After adjustment, we found no independent associations of the causative organism, multidrug resistance of the causative organism, infection site, or presence of bacteremia with mortality. Early appropriate antimicrobial therapy was consistently associated with better survival in the community-acquired (0.64 [0.51-0.8], p = .0001), hospital-acquired (0.72 [0.58-0.88], p = .0011), and intensive care unit-acquired (0.79 [0.64-0.97], p = .0272) groups. Conclusion: The infectious process may not exert as strong a prognostic effect when severity, organ dysfunction and, above all, appropriateness of early antimicrobials are taken into account. Our findings emphasize the importance of developing valid recommendations for early antimicrobial therapy. © 2011 by the Society of Critical Care Medicine and Lippincott Williams & Wilkins. Source

El Khattabi L.,French Institute of Health and Medical Research | El Khattabi L.,University of Paris Descartes | Jaillard S.,Rennes University Hospital Center | Andrieux J.,Lille Hospital | And 30 more authors.
American Journal of Medical Genetics, Part A

Tetrasomy 9p is a generic term describing the presence of a supernumerary chromosome incorporating two copies of the 9p arm. Two varieties exist: isodicentric chromosome 9p (i(9p)), where the two 9p arms are linked by a single centromeric region, and pseudodicentric 9p (idic(9p)), where one active and one inactive centromere are linked together by a proximal segment of 9q that may incorporate euchromatic material. In living patients, i(9p) and idic(9p) are usually present in a mosaic state. Fifty-four cases, including fetuses, have been reported, of which only two have been molecularly characterized using array-CGH. Tetrasomy 9p leads to a variable phenotype ranging from multiple congenital anomalies with severe intellectual disability and growth delay to subnormal cognitive and physical developments. Hypertelorism, abnormal ears, microretrognathia and bulbous nose are the most common dysmorphic traits. Microcephaly, growth retardation, joint dislocation, scoliosis, cardiac and renal anomalies were reported in several cases. Those physical anomalies are often, but not universally, accompanied by intellectual disability. The most recurrent breakpoints, defined by conventional cytogenetics, are 9p10, 9q12 and 9q13. We report on 12 new patients with tetrasomy 9p (3 i(9p), 8 idic(9p) and one structurally uncharacterized), including the first case of parental germline mosaicism. All rearrangements have been characterized by DNA microarray. Based on our results and a review of the literature, we further delineate the prenatal and postnatal clinical spectrum of this imbalance. Our results show poor genotype-phenotype correlations and underline the need of precise molecular characterization of the supernumerary marker. © 2015 Wiley Periodicals, Inc. Source

Pirot N.,Pavillon Jacques Delarue | Crahes M.,Pathology Laboratory | Adle-Biassette H.,University of Rouen | Soares A.,University of Rouen | And 8 more authors.
Journal of Neuropathology and Experimental Neurology

To distinguish pyruvate dehydrogenase deficiency (PDH) from other antenatal neurometabolic disorders thereby improving prenatal diagnosis, we describe imaging findings, clinical phenotype, and brain lesions in fetuses from 3 families with molecular characterization of this condition. Neuropathological analysis was performed in 4 autopsy cases from 3 unrelated families with subsequent biochemical and molecular confirmation of PDH complex deficiency. In 2 families there were mutations in the PDHA1 gene; in the third family there was a mutation in the PDHB gene. All fetuses displayed characteristic craniofacial dysmorphism of varying severity, absence of visceral lesions, and associated encephaloclastic and developmental supra-and infratentorial lesions. Neurodevelopmental abnormalities included microcephaly, migration abnormalities (pachygyria, polymicrogyria, periventricular nodular heterotopias), and cerebellar and brainstem hypoplasia with hypoplastic dentate nuclei and pyramidal tracts. Associated clastic lesions included asymmetric leukomalacia, reactive gliosis, large pseudocysts of germinolysis, and basal ganglia calcifications. The diagnosis of PDH deficiency should be suspected antenatally with the presence of clastic and neurodevelopmental lesions and a relatively characteristic craniofacial dysmorphism. Postmortem examination is essential for excluding other closely related entities, thereby allowing for biochemical and molecular confirmation. © 2016 American Association of Neuropathologists, Inc. All rights reserved. Source

Tsapis M.,Jean Verdier University Hospital | Tsapis M.,Avicenne University Hospital | Chabane H.,Delafontaine Hospital | Teychene A.M.,Jean Verdier University Hospital | And 3 more authors.
Revue Francaise d'Allergologie

Allergic reactions following snail ingestion in house dust mite-sensitized patients are well known, although the allergens concerned in the cross-reactivity remain to be identified. We report the case of a fatal anaphylactic reaction following snail ingestion in a 10-year old boy, which occurred 2. months after conclusion of 3. years of house dust mite subcutaneous immunotherapy. This case highlights a possible cross-reaction between food and inhalant allergens leading to a fatal outcome. We discuss the relation between house dust mite immunotherapy and this fatal food allergic reaction. Conclusion: Physicians should be aware of the possibility of severe anaphylaxis following snail ingestion in house dust mite allergic patients undergoing subcutaneous immunotherapy as this appears to constitute a risk factor for such reactions. © 2013 Elsevier Masson SAS. Source

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