<i>CHAMP1</i>-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature

Intellectual disability (ID) is a prevalent neurodevelopmental disorder characterized by limitations in intellectual functioning and adaptive behavior. While the causes of ID are still largely unknown, it is believed to result from a combination of environmental exposures and genetic abnormalities. Recent advancements in genomic studies and clinical genetic testing have identified numerous genes associated with neurodevelopmental disorders (NDDs), including ID. One such gene is CHAMP1, which plays a role in chromosome alignment and has been linked to a specific type of NDD called CHAMP1 disease. This report presents the case of a 21-year-old Lebanese female patient with a de novo mutation in CHAMP1. In addition to ID and NDD, the patient exhibited various clinical features such as impaired language, dysmorphic features, macrocephaly, thoracic hyperkyphosis, decreased pain sensation, and metabolic syndrome. These findings expand the understanding of the clinical spectrum associated with CHAMP1 mutations and highlight the importance of comprehensive follow-up for improved prognosis. Overall, this case contributes to the knowledge of CHAMP1-related NDDs by describing additional clinical features associated with a CHAMP1 mutation. The findings underscore the need for accurate diagnosis, thorough follow-up, and personalized care for individuals with CHAMP1 mutations to optimize their prognosis

Epidemiology and clinical characteristics of viral infections in hospitalized children and adolescents with cancer in Lebanon.

BackgroundViral infections in children and adolescents with malignancy are commonly encountered and have a significant impact on morbidity and mortality. Studies and epidemiological data regarding viral infections in children with cancer in developing countries are lacking. This retrospective cohort study aims to assess the burden of viral infections in children and adolescents with cancer, by assessing prevalence, risk factors, as well as morbidity and mortality of common viruses over a period of 8 years.Methods and findingsMedical records of cancer patients treated at the Children Cancer Center of Lebanon were reviewed and 155 participants under the age of 21 were identified with at least one documented viral infection during the period from July 2009 to November 2017. This subset included 136 participants with active malignancy and 19 participants with a history of cancer who underwent hematopoietic stem cell transplantation [HSCT] and were in remission; the latter group was analyzed separately. Information regarding participant characteristics, hospital course, and complications were obtained. Associations between viral infections and certain factors were assessed. In the cohort, 64% were male, 81% were Lebanese. In participants with active malignancy, 90% received chemotherapy in the 6 months preceding the viral infection episode, 11% received radiotherapy. 51% of participants were neutropenic at the time of viral detection, and 77% were lymphopenic. 17% experienced a bacterial co-infection, and 3 experienced a viral co-infection. Among 162 viral infection episodes, clinically diagnosed skin infections, mainly herpes simplex virus type 1 and varicella-zoster virus, were the most common [44% of cases]. These were followed by laboratory-proven systemic herpes infections: cytomegalovirus [14%] and Epstein-Barr virus [6%]. Respiratory viruses: influenza and respiratory syncytial virus, accounted for 9% and 4%, respectively, whereas rotavirus represented 11% and BK virus represented 3% of cases. Acute lymphocytic leukemia was the most prevalent neoplasia [57%]. Fever was the most common presenting symptom [55%] and febrile neutropenia was the reason for admission in 24% of cases. The mean length of stay was significantly longer in participants with cytomegalovirus infections and significantly lower in rotavirus infection. Admission to the ICU occurred in 9%, complications in 8%, and mortality in 5%. Participants with viral infections post-HSCT were noted to have a significantly longer length of hospital stay compared to non-HSCT participants, with no other significant differences in clinical course and outcome. The study was limited by its retrospective nature and by the late introduction and underuse of multiplex PCR panels, which may have led to underdiagnosis of viral infections.ConclusionsViral infections were prevalent in our sample of cancer patients and may have contributed to morbidity and mortality. Newly available viral diagnostics are likely to vastly increase the number and scope of detectable viral infections in this population. Prospective studies using multiplex PCR technology with systematic testing of patients will be more helpful in defining the burden of viral infections. Furthermore, efforts at antimicrobial stewardship would benefit from the identification of viral causes of infection and limit the unnecessary use of antibiotics in the pediatric cancer population

Quelle éducation avec la Covid-19

APPEL A CONTRIBUTION : QUE NOUS APPREND LA PANDEMIE? Numéro HS Recherches et Educations (Juillet 2020) (HCERES 70ème section) Qu'est ce que la pandémie nous apprend de nos sociétés, de nos politiques de santé publique, des souverainetés épistémologiques de la recherche et des praxis individuelles et collectives? Solidarités ou/ et d'exclusions? Stratégies d'adaptation au confinement ou de rejet? Comment agit-on dans ce monde incertain, soumis à l'autorité des politiques de gestion d'un virus? Soumission volontaire à l'autorité ou organisation des résistances? Quels sont les savoirs exercés sur quels pouvoirs ? Quelles sont les légitimités et les responsabilités plurielles : individuelles, collectives, politiques et sociales ? Quels sont les usages sociaux et politiques des résultats de la recherche des experts ? Qu’apprenons nous des expériences de prévention individuelles, européennes et internationales ? Comment s’exercent les pouvoirs à partir des savoirs des épistémologies et des évidence-base medecine ? Comment l’histoire des épidémies pourrait répondre à notre présent ? Quel futur pour notre société après la pandémie ? Quelles seront nos inégalités sociales ? Vers quelles écologies ? Quelles résistances ? Quel mode de vie ? Quelles expériences corporelles de l’absence de toucher et de la distanciation ? Quelle croissance ? Quelle décroissance ? Quelles solidarités face à la techno-économique ? La revue Recherches & Educations lance un appel à contribution, multi disciplinaire, sur le « dispositif covid 19 » pendant le confinement imposé aux populations. Elle propose de réunir les textes critiques et réflexifs sur ce que nous apprend l’épidémie et la pandémie de nous même, de notre relation au vivant, à la mondialisation néolibérale, aux souverainetés de santé, au gouvernement des corps, de la psyché et de la vie, aux politiques de prévention, aux représentations de l’épidémie, aux pratiques corporelles visuelles et tactiles, aux modes de résistances et aux praxis du quotidien du présent et de demain. Texte à adresser (avant le 30 mai 2020) en 30.000 signes à [email protected] [email protected] [email protected]