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Contains fulltext : 286882.pdf (Publisher’s version ) (Closed access) MTHFR deficiency is a severe inborn error of metabolism leading to impairment of the remethylation of homocysteine to methionine. Neonatal and early-onset patients mostly exhibit a life-threatening acute neurologic deterioration. Furthermore, data on early-onset patients' long-term outcomes are scarce. The aims of this study were (1) to study and describe the clinical and laboratory parameters of early-onset MTHFR-deficient patients (i.e., ≤3 months of age) and (2) to identify predictive factors for severe neurodevelopmental outcomes in a cohort with early and late onset MTHFR-deficient patients. To this end, we conducted a retrospective, multicentric, international cohort study on 72 patients with MTHFR deficiency from 32 international metabolic centres. Characteristics of the 32 patients with early-onset MTHFR deficiency were described at time of diagnosis and at the last follow-up visit. Logistic regression analysis was used to identify predictive factors of severe neurodevelopmental outcome in a broader set of patients with early and non-early-onset MTHFR deficiency. The majority of early-onset MTHFR-deficient patients (n = 32) exhibited neurologic symptoms (76%) and feeding difficulties (70%) at time of diagnosis. At the last follow-up visit (median follow-up time of 8.1 years), 76% of treated early-onset patients (n = 29) exhibited a severe neurodevelopmental outcome. Among the whole study population of 64 patients, pre-symptomatic diagnosis was independently associated with a significantly better neurodevelopmental outcome (adjusted OR 0.004, [0.002-0.232]; p = 0.003). This study provides evidence for benefits of pre-symptomatic diagnosis and appropriate therapeutic management, highlighting the need for systematic newborn screening for MTHFR deficiency and pre-symptomatic treatment that may improve outcome.

International audience; Cow's milk protein allergy (CMPA) is a public health issue in children whose quality of life is strongly affected. The objective of this article is to review the present state of knowledge on the CMPA, and highlight some emerging alternatives in its management and in its prevention. Good knowledge in the appropriate infant formula, exclusion diets, the handling of the emergency treatment thanks to the use of epinephrine auto-injector pens, the use of personalized care project and accessibility to allergic patients’ association are factors that secure the management. Breastfeeding and appropriate dietary diversification are for their part major preventive measures. The use of probiotics and desensitization immunotherapy are interesting emerging tracks. The role of community pharmacists in all these steps is discussed. It is indeed a nearby health professional involved both in improving prevention and in the optimization of the management. Its educational posture is crucial in assisting patients to help them better understand the CMPA and its treatment; as part of its new tasks, he can be integrated into therapeutic education programs to help allergic children and their families in a multidisciplinary context to better manage their daily life.; L’allergie aux protéines du lait de vache (APLV) est un enjeu en santé publique chez l’enfant dont elle altère fortement la qualité de vie. L’objectif de cette revue est de faire le point sur les données actuelles concernant l’APLV et de mettre en exergue certaines alternatives émergentes dans sa prise en charge ainsi que dans sa prévention. Une bonne connaissance des laits de substitution adaptés, des régimes d’éviction, du maniement des traitements de l’urgence notamment grâce à l’utilisation des stylos auto-injecteurs d’adrénaline, de recours au projet d’accueil individualisé et du rapprochement vers des associations de patients allergiques sont autant de facteurs qui permettent de sécuriser la prise en charge. L’allaitement maternel et une diversification alimentaire adaptée constituent quant à elles des mesures de prévention majeures. L’utilisation de probiotiques et la désensibilisation par l’immunothérapie sont des pistes émergentes intéressantes. La place du pharmacien d’officine dans toutes ces étapes est discutée. C’est en effet un professionnel de santé de proximité impliqué tant dans l’amélioration de la prévention que dans l’optimisation de la prise en charge. Sa posture éducative est capitale dans l’accompagnement des patients pour les aider à mieux comprendre l’APLV et ses traitements ; dans le cadre de ses nouvelles missions, il pourra s’intégrer dans des programmes d’éducation thérapeutique afin d’aider l’enfant allergique et sa famille dans un contexte pluridisciplinaire à gérer au mieux leur quotidien.