Current situation of Specialized Health Training in pediatrics and its specific areas: Challenges and needs.

The development of pediatric subspecialties constitutes one of the most outstanding events in pediatrics in our country since the mid-20th century. The FSE in pediatrics is currently based on order SCO/3148/2006, of September 20, which approves and publishes the training program for the specialty of pediatrics and its Specific Areas. It is a training program structured in 4 years that manages to train the resident in the necessary skills of pediatrics, including training in transversal skills, training in general pediatrics and must also include training in different specific areas. In 1995 was approved the Specific Training Area (ACE). In pediatrics, ACEs are necessary to guarantee adequate health care for the child and adolescent population, at the same level as adult medicine, ensuring through regulated training, quality and uniform care. We want to give official recognition to what today is a healthcare reality in all the Spanish hospitals.

Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation.

Early-onset hereditary motor and sensory neuropathies are rare diseases representing a broad clinical and genetic spectrum. Without a notable familial history, the clinical diagnosis is complicated because acquired causes of peripheral neuropathy, such as inflammatory neuropathies, neuropathies with toxic causes, and nutritional deficiencies, must be considered. We examined the clinical, electrophysiological, and pathologic manifestations of a boy with an initial diagnosis of chronic inflammatory demyelinating polyneuropathy. The progression of the disease despite treatment led to a suspicion of hereditary motor and sensory neuropathy. Genetic testing revealed the presence of the MPZ p.D90E mutation in heterozygosis. To clarify the pathogenicity of this mutation and achieve a conclusive diagnosis, we investigated the MPZ p.D90E mutation through in silico and cellular approaches. This study broadens the clinical phenotype of hereditary motor and sensory neuropathy due to MPZ mutation and emphasises the difficulty of achieving an accurate genetic diagnosis in a sporadic patient to provide an appropriate pharmacologic treatment.