Childhood Cryptosporidiosis: A Case Report

Cryptosporidium has emerged as an important cause of diarrheal illness worldwide, especially amongst young children and patients with infectious or iatrogenic immune deficiencies. The authors describe a case of mild cryptosporidiosis in a well-nourished, immunocompetent, one-year-old child. Rapid clinical and parasitological improvement was observed after a 3-day course of nitazoxanide

Characteristics and management of congenital esophageal stenosis: findings from a multicenter study.

BACKGROUND: Congenital esophageal stenosis (CES) is a rare condition frequently associated with esophageal atresia (EA). There are limited data from small series about the presentation, treatment, and outcomes of CES. METHODS: Medical records of all patients with CES included in the French Network on Esophageal Malformations and Congenital Diseases were reviewed retrospectively with regard to diagnosis, treatment, and outcome. RESULTS: Over 18 years, 61 patients (30 boys) had CES, and 29 (47%) of these patients also had EA. The mean age at diagnosis was 24 months (1 day to 14 years) and was younger in patients with CES and EA than in those with isolated CES (7 vs. 126 months, p < 0.05). Twenty-one of the 61 patients with CES had no clinical symptoms: in three patients, the findings were incidental, and in 18 of the 29 patients with associated EA, CES was diagnosed at the time of surgical repair of EA or during a postoperative systematic esophageal barium study. In the 40 other patients, at diagnosis, 50% presented with dysphasia, 40% with vomiting, 50% with food impaction, and 42% with respiratory symptoms. Diagnosis of CES was confirmed by esophageal barium study (56/61) and/or esophageal endoscopy (50/61). Sixteen patients had tracheobronchial remnants (TBR), 40 had fibromuscular stenosis (FMS), and five had membrane stenosis (MS). Thirty-four patients (56%) were treated by dilation only (13/34 remained asymptomatic at follow-up); 15 patients were treated by dilation but required later surgery because of failure (4/15 remained asymptomatic at follow-up); and nine patients had a primary surgical intervention (4/9 were asymptomatic at follow-up). Dilation was complicated by esophageal perforation in two patients (3.4%). At follow-up, dysphagia remained in 36% (21/58) of patients, but the incidence did not differ between the EA and the isolated CS groups (10/29 vs. 7/32, p = 0.27). CONCLUSIONS: CS diagnosis can be delayed when associated with EA. Dilation may be effective for treating patients with FMS and MS, but surgical repair is often required for those with TBR. Our results show clearly that, regardless of the therapeutic option, dysphagia occurs frequently, and patients with CES should be followed over the long term

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

The myosin-directed chaperone UNC-45B is essential for sarcomeric organization and muscle function from Caenorhabditis elegans to humans. The pathological impact of UNC-45B in muscle disease remained elusive. We report ten individuals with bi-allelic variants in UNC45B who exhibit childhood-onset progressive muscle weakness. We identified a common UNC45B variant that acts as a complex hypomorph splice variant. Purified UNC-45B mutants showed changes in folding and solubility. In situ localization studies further demonstrated reduced expression of mutant UNC-45B in muscle combined with abnormal localization away from the A-band towards the Z-disk of the sarcomere. The physiological relevance of these observations was investigated in C. elegans by transgenic expression of conserved UNC-45 missense variants, which showed impaired myosin binding for one and defective muscle function for three. Together, our results demonstrate that UNC-45B impairment manifests as a chaperonopathy with progressive muscle pathology, which discovers the previously unknown conserved role of UNC-45B in myofibrillar organization

BMJ Open

Introduction Guidelines for the treatment of steroid-dependent nephrotic syndrome (SDNS) and frequently relapsing nephrotic syndrome (FRNS) are lacking. Given the substantial impact of SDNS/FRNS on quality of life, strategies aiming to provide long-term remission while minimising treatment side effects are needed. Several studies confirm that rituximab is effective in preventing early relapses in SDNS/FRNS; however, the long-term relapse rate remains high (~70% at 2 years). This trial will assess the association of intravenous immunoglobulins (IVIgs) to rituximab in patients with SDNS/FRNS and inform clinicians on whether IVIg’s immunomodulatory properties can alter the course of the disease and reduce the use of immunosuppressive drugs and their side effects. Methods and analysis We conduct an open-label multicentre, randomised, parallel group in a 1:1 ratio, controlled, superiority trial to assess the safety and efficacy of a single infusion of rituximab followed by IVIg compared with rituximab alone in childhood-onset FRNS/SDNS. The primary outcome is the occurrence of first relapse within 24 months. Patients are allocated to receive either rituximab alone (375 mg/m²) or rituximab followed by IVIg, which includes an initial Ig dose of 2 g/kg, followed by 1.5 g/kg injections once a month for the following 5 months (maximum dose: 100 g). Ethics and dissemination The study has been approved by the ethics committee (Comité de Protection des Personnes) of Ouest I and authorised by the French drug regulatory agency (Agence Nationale de Sécurité du Médicament et des Produits de Santé). Results of the primary study and the secondary aims will be disseminated through peer-reviewed publications

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

The myosin-directed chaperone UNC-45B is essential for sarcomeric organization and muscle function from Caenorhabditis elegans to humans. The pathological impact of UNC-45B in muscle disease remained elusive. We report ten individuals with bi-allelic variants in UNC45B who exhibit childhood-onset progressive muscle weakness. We identified a common UNC45B variant that acts as a complex hypomorph splice variant. Purified UNC-45B mutants showed changes in folding and solubility. In situ localization studies further demonstrated reduced expression of mutant UNC-45B in muscle combined with abnormal localization away from the A-band towards the Z-disk of the sarcomere. The physiological relevance of these observations was investigated in C. elegans by transgenic expression of conserved UNC-45 missense variants, which showed impaired myosin binding for one and defective muscle function for three. Together, our results demonstrate that UNC-45B impairment manifests as a chaperonopathy with progressive muscle pathology, which discovers the previously unknown conserved role of UNC-45B in myofibrillar organization

Combinaison de classifieurs de mots arabes pour la vérification du scripteur

10 PagesInternational audienceLa vérification de scripteur permet d'établir si deux documents ont été écrits par le même scripteur ou par deux scripteurs différents en comparant les caractéristiques extraites à partir des deux documents. La majorité des tâches de vérification de scripteur sont accomplies par des experts humains et, bien que souhaitable, leur automatisation est loin d'être facile. Dans cet article, nous proposons une approche de vérification de scripteur, à partir de mots arabes, en mode dépendant du texte. Dans notre système, des imagettes de taille n×n sont d'abord extraites à partir de l'image d'un mot manuscrit, puis n×4 caractéristiques statistiques sont déterminées à partir de chaque imagette. La prise de décision est basée sur l‘algorithme de Wagner Fisher, bien connu dans les méthodes structurelles de reconnaissance de formes. Les classifieurs individuels utilisés sont ensuite combinés afin d'améliorer les résultats. 81 scripteurs sont impliqués dans l'évaluation et les résultats atteints montrent l'efficacité de l'approche proposée

Une approche locale en mode indépendant du texte pour l'identification de scripteurs : Application à l'écriture arabe

International audienceTrès peu de travaux de recherche ont été proposés dans le domaine de l'identification hors-ligne de scripteurs utilisant l'écriture arabe, et la majorité de ces travaux supposent que le texte est fixe. Dans cet article nous proposons une approche locale pour l'identification de scripteurs en mode indépendant du texte sur des documents en arabe. Cette approche se base sur l'extraction des formes invariantes et propres à l'écriture de chaque scripteur à partir d'un processus de découpage de l'image d'un mot en imagettes suivi par la classification séquentielle de ces imagettes. Cette approche ne nécessite pas des échantillons de grande taille et nous a permis d'obtenir des résultats de l'ordre de 90% d'identification correcte pour 33 scripteurs sur une base de noms de wilayas algériennes. Les performances ont atteint 93,93% d'identification correcte pour 33 scripteurs sur des documents extraits de la base IFN/ENIT des noms de villes et villages tunisiens

Secondary metabolites from Centaurea grisebachii ssp. grisebachii

The aerial parts of Centaurea grisebachii ssp. grisebachii, a Greek endemic species belonging to section Acrolophus (Cass.) DC., were investigated for the occurrence of sesquiterpene lactones. The eudesmanolide, 4-epi-malacitenolide was the major compound. In addition to the sesquiterpene lactones, five flavonoid aglycons, two lignans, one nor-isoprenoid and one sterol were found. © 2007 Elsevier Ltd. All rights reserved