Twenty years of a pre-symptomatic testing protocol for late-onset neurological diseases in Portugal

M Paneque, J Félix, Á Mendes… - … Portuguesa, vol. 32 …, 2019 - repositorio-aberto.up.pt
Introdução: Em 1995 foi iniciado em Portugal um protocolo nacional para o aconselhamento
genético e teste pré-sintomático de doenças neurológicas de início tardio. Inicialmente, foi …

[HTML][HTML] Influence of humanistic care based on Carolina care model for ovarian cancer patients on postoperative recovery and quality of life

M Gao, L Zhang, Y Wang, L Li, C Wang… - American journal of …, 2021 - ncbi.nlm.nih.gov
Objective: Our aim was to explore the influence of humanistic care based on Carolina care
model on postoperative recovery and quality of life in patients with ovarian cancer (OC) …

Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study

A Lopes, A Sousa, I Fonseca, M Branco… - Journal of community …, 2018 - Springer
Transthyretin-related familial amyloid polyneuropathy Val30Met is a fatal progressive
disease. It is a rare hereditary amyloidosis, manifesting as a sensorimotor neuropathy and …

Presymptomatic Testing for Huntington's Disease in Mexico: 28 Years of Experience

A Ochoa-Morales, DJDO de Montellano… - Archives of Medical …, 2024 - Elsevier
Introduction Huntington's disease (HD) is a genetic neurodegenerative disorder with
dominant inheritance. Our center in Mexico City has offered presymptomatic testing (PT) …

Psychopathological dimensions in subjects with hereditary ATTR V30M amyloidosis and their relation with life events due to the disease

A Lopes, I Fonseca, A Sousa, C Rodrigues, M Branco… - Amyloid, 2018 - Taylor & Francis
Background: Chronic physical illness has been associated with emotional distress. Chronic
diseases may change usual family patterns with economic, social and family losses …

Clinical 3-D gait assessment of patients with polyneuropathy associated with hereditary transthyretin amyloidosis

MC Vilas-Boas, AP Rocha, MN Cardoso… - Frontiers in …, 2020 - frontiersin.org
Hereditary amyloidosis associated with transthyretin V30M (ATTRv V30M) is a rare and
inherited multisystemic disease, with a variable presentation and a challenging diagnosis …

[PDF][PDF] Gait Analysis in Hereditary Amyloidosis Associated to Variant Transthyretin

MCSC Vilas, B de Olazabal - 2022 - repositorio-aberto.up.pt
Hereditary amyloidosis associated to variant transthyretin (ATTRv amyloidosis) is a
pathology caused by an autosomal dominant mutation that triggers amyloid deposition …

Long-term Negative Psychological Impact of Presymptomatic Testing for Huntington's disease

ÂMT Leite, MAP Dinis, SMLS Pinto… - Journal of Health …, 2017 - bdigital.ufp.pt
Presymptomatic Testing (PST) for Huntington's disease (HD) is available since 1986 and its
impact on carriers and non-carriers is not yet fully clear. It is important to understand its …

Biotechnological Production of Biomaterials and Their Applications

M Carrillo-Tripp, R Torres-De Los Santos… - … of Research on …, 2021 - taylorfrancis.com
Biotechnology is a diverse and thriving sector that overlaps with many industries, from
energy to medicine, manufacturing to materials. There is a global interest in the …

[PDF][PDF] Pre-symptomatic testing for neurodegenerative disorders: Middle-to long-term psychopathological impact

S Lêdo, Â Leite, T Souto, MAP Dinis, J Sequeiros - Psicothema, 2017 - redalyc.org
Antecedentes: el presente estudio transversal investigó el impacto psicopatológico a medio
(4 años) ya largo plazo (7 y 10 años) de la prueba pre-sintomática (PPS) para tres …