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Gliomas - Symptoms, diagnosis and treatment | BMJ Best Practice Gliomas are primary tumours of the brain arising from glial progenitor cells Normal glia (astrocytes and oligodendrocytes) provide structural and metabolic support to the brain and neurons, regulate ion concentrations in the extracellular space, modulate synaptic transmissions, and take up and release neurotransmitters Gliomas may be circumscribed or diffuse
Gliomas - Sintomas, diagnóstico e tratamento | BMJ Best Practice Gliomas com mutações em H3 (tais como glioma de linha média difuso, com alterações em H3 K27M; e glioma hemisférico difuso, com mutações em H3 G34) são tumores cerebrais agressivos (grau 4) que ocorrem em crianças, adolescentes e adultos jovens
Tumour lysis syndrome - BMJ Best Practice Tumour lysis syndrome (TLS) is an oncological emergency caused by rapid breakdown of cancer cells and subsequent release of large amounts of intracellular content into the bloodstream The pathophysiological manifestations of TLS can lead to acute kidney injury, cardiac arrhythmias, seizures, and
Long QT syndrome - BMJ Best Practice Long QT syndrome (LQTS) is a congenital or acquired condition that is characterised by a prolonged QT interval on the surface ECG and is associated with a high risk of sudden cardiac death due to ventricular tachyarrhythmias In congenital LQTS, mutations within 17 identified genes result in a variety of channelopathies affecting myocardial repolarisation, thus prolonging the QT interval
Sintomas, diagnóstico e tratamento - BMJ Best Practice O meningioma é um tumor das meninges predominantemente não maligno que ocorre nas regiões craniana e espinhal Pode ser assintomático ou causar sintomas decorrentes do efeito de massa local por compressão de estruturas neurais O diagnóstico é confirmado pela aparência característica à ressonânci
Symptoms, diagnosis and treatment - BMJ Best Practice Neurofibromatosis, type 1 (NF1) is an autosomal-dominant genetic disorder with the defining features of café au lait spots, multiple neurofibromas, and iris Lisch nodules Additional manifestations are almost always present, including those involving the skin, central nervous system, peripheral nerves, bones, gastrointestinal tract, vasculature, and endocrine system The most common
Neurofibromatose do tipo 1 - BMJ Best Practice A neurofibromatose do tipo 1 (NF1) é um distúrbio genético autossômico dominante definida pelas características de manchas café-com-leite, múltiplos neurofibromas e nódulos de Lisch na íris O diagnóstico é feito clinicamente; são recomendados testes moleculares baseados em RNA da mutação de NF1
Sintomas, diagnóstico e tratamento - BMJ Best Practice O retinoblastoma é a neoplasia maligna intraocular mais comum em crianças 90% de todos os casos de retinoblastoma são diagnosticados até os 3 anos de idade A doença pode ser unilateral ou bilateral O sinal mais comum apresentado é a leucocoria (reflexo branco pupilar), que geralmente pode ser
Symptoms, diagnosis and treatment - BMJ Best Practice Medulloblastoma is a malignant, invasive brain tumour arising from the cerebellum It is the most common malignant brain tumour of childhood Symptoms, due to a mass effect from the tumour or to obstructive hydrocephalus, include morning headaches, nausea, vomiting, diplopia (manifestation of six