Parâmetros de Prática Clínica para avaliação e monitorização médica na Síndrome de Phelan-McDermid – Portuguese

Parâmetros de Prática Clínica para avaliação e monitorização médica na Síndrome de Phelan-McDermid – Portuguese

Este diagrama identifica as áreas de especialidades médicas que podem ser úteis na avaliação de uma pessoa diagnosticada com a Síndrome de Phelan-McDermid (PMS), as condições que podem estar presentes, os exames que podem ajudar no diagnóstico e a abordagem multidisciplinar.

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Phenome‑wide profiling identifies genotype‑phenotype associations in Phelan‑McDermid syndrome

Phenome‑wide profiling identifies genotype‑phenotype associations in Phelan‑McDermid syndrome

Phelan-McDermid syndrome is characterized by global developmental delay, intellectual disability, speech impairment, autism spectrum disorder, and hypotonia; other variable features include epilepsy, brain and renal malformations, and mild dysmorphic features. Here, we conducted genotype-phenotype correlation analyses using the PMS International Registry, a family-driven registry that compiles clinical data in the form of family-reported outcomes and family-sourced genetic test results.

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Guidelines on the Management of Cellulitis in Lymphedema

Guidelines on the Management of Cellulitis in Lymphedema

This guidance is mainly intended to support primary health care professionals but should also be of value to those working in specialist lymphoedema services. It has been produced by a consensus group (membership listed on page 11) with an annual literature review for new evidence.  Disclaimer: These recommendations do not discuss how lymphedema interacts with other pathologies and only a few select medications are reviewed. These guidelines were recommended for a population that did not necessarily have chromosome abnormalities. Discuss treatment management and drug interactions with your physician.

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Medical Advisory – Catatonia and Neuroleptic Malignant Syndrome (NMS)

Medical Advisory – Catatonia and Neuroleptic Malignant Syndrome (NMS)

The PMSF Medical Advisory Committee (MAC) would like to inform the patient community and the providers who care for them that around puberty or in early adulthood, some people with Phelan-McDermid syndrome are prone to developing bipolar disorder, associated psychotic features, and severe anxiety or obsessive-compulsive symptoms. Catatonia occurs in roughly 50% of Phelan-McDermid syndrome patients who develop psychiatric symptoms.

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