Intervenção fisioterapêutica na Síndrome de Noonan: relato de caso / Physiotherapeutic intervention in Noonan Syndrome: a case report

Santana, Ingryd Mary Prata; Carvalho, Lêda Leonôr Mendonça; Santos, Ingrid Mendes; Júnior, José Fontes; Batista, Thaisa Soares Caldas; Schneiberg, Sheila

doi:10.34119/bjhrv3n6-296

Cited by 4 publications

(5 citation statements)

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“…About fourteen genes (PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, HRAS, MAP2K1, MAP2K2, CBL, RlT1, RASA2 and A2ML1) have already been related to this syndrome. Studies suggest that the PTPN11 gene, responsible for encoding the SHP2 protein, appears in 50% of SN cases (SANTANA et al, 2020).…”

Section: Resultsmentioning

confidence: 99%

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2024

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Section: Resultsmentioning

confidence: 99%

“…Molecular tests are important for the differential diagnosis of Noonan Syndrome from other syndromes such as Costello syndrome and Turner syndrome (SANTANA et al, 2020). Additionally, molecular diagnosis contributes to a more appropriate genetic counseling, besides providing information about risk of recurrence (DIAMANTINO, 2021).…”

Section: Resultsmentioning

confidence: 99%

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2024

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“…Cerca de quatorze genes (PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, HRAS, MAP2K1, MAP2K2, CBL, RlT1, RASA2 and A2ML1) já foram relacionados com essa síndrome. Estudos sugerem que o gene PTPN11, responsável pela codificação da proteína SHP2, aparece em 50% dos casos de SN (Santana et al, 2020).…”

Section: Discussionunclassified

Síndrome de Noonan

Prudente¹,

Quintanilha²,

Araújo³

et al. 2022

Braz. J. Hea. Rev.

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Introdução: A Síndrome de Noonan (SN) é uma doença de herança autossômica dominante, com incidência estimada de 1/1000 até 1/2500 nascidos vivos. A síndrome é frequentemente associada a defeitos cardíacos e uma grande variabilidade fenotípica. Apresentação do caso: Paciente do sexo masculino, 3 anos de idade e diagnóstico prévio de Comunicação Interatrial, corrigida cirurgicamente. No primeiro ano de vida, foram notadas alterações fenotípicas, como ptose palpebral, orelhas de implantação baixa, face triangular, tórax em escudo, pescoço curto e diagnóstico de sinusite crônica. Discussão: A anomalia congênita mais comum da SN é a estenose valvar pulmonar (54% dos casos) bastante relacionada à morbidade e à mortalidade da doença. As características fenotípicas podem incluir hipertelorismo, ptose palpebral, pescoço alado, baixa estatura, entre outros. A doença possui uma ampla variabilidade clínica e tem como diagnóstico diferencial a Síndrome de Costello e a Síndrome de Turner. O diagnóstico é realizado por meio de uma avaliação clínico-genética. Conclusão: O presente relato ressalta a importância do conhecimento em relação a SN para que sejam realizadas histórias clínicas completas e exames físicos minuciosos diante da suspeita clínica para fins de diagnóstico precoce, acompanhamento multidisciplinar e melhora do prognóstico.

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“…Among other important clinical characteristics we can highlight: short and winged neck, ears with low implantation, hypertelorism, superior pectus carinatum and inferior pectus excavatum. Besides a variable degree of intellectual disability, hearing loss, cryptorchidism (in males) and alteration in coagulation (SANTANA, 2020).…”

Section: Introductionmentioning

confidence: 99%

“…A complete physical and neurological examination is essential for diagnostic definition, and may be accompanied by molecular genetic testing to detect mutations and exclude other etiologies (SANTANA, 2020;ZARAMELLA, 2021).…”

Section: Introductionmentioning

confidence: 99%

Human anatomy: speech-language pathology students' preferences and perspectives

Carneiro¹,

Ramos²,

Silva³

et al. 2023

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Teaching practices at the university and the curricular component of Human Anatomy, in recent decades, have shared a significant process of change. The research aims to describe the profile and teaching preferences of Speech Therapy students enrolled in the Functional Neuroanatomy curricular component, offered at the Health Sciences Center of the Federal University of Paraíba, João Pessoa, Brazil. The study was observational and cross-sectional in nature with serial collection in the same population. Data collection took place between July 2014 and April 2018. Most of the 53 respondents were female, aged between 18 and 28 years, mean age of 20.4±2.2 years. In the students' opinion, learning anatomy disciplines involved a lot of effort (65.4%) and the majority (71.7%) consider the cadaver necessary in the study of anatomy, but would not donate their body for teaching or research. Students use the main personal protective equipment, lab coat, mask and gloves, but many complaints of headache, nasal irritation and tearing were observed. Thus, making a local diagnosis and identifying preferences, demands and difficulties is essential for decision-making and planning of institutional and teaching actions that can qualify the teaching-learning process, which will imply the qualification of the future professional practice of these students.

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Intervenção fisioterapêutica na Síndrome de Noonan: relato de caso / Physiotherapeutic intervention in Noonan Syndrome: a case report

Cited by 4 publications

References 0 publications

Relevant studies focused on health sciences

Relevant studies focused on health sciences

Síndrome de Noonan

Human anatomy: speech-language pathology students' preferences and perspectives

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