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1.
J Neurol ; 270(12): 5784-5792, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37578488

RESUMO

BACKGROUND AND OBJECTIVES: Hereditary spastic paraplegias (HSPs) are heterogenous genetic disorders characterized by progressive pyramidal tract involvement. SPG76 is a recently identified form of HSP, caused by biallelic calpain-1 (CAPN1) variants. The most frequently described MRI abnormality in SPG76 is mild cerebellar atrophy and non-specific white matter abnormalities were reported in only one case. Following the identification of prominent white matter abnormalities in a subject with CAPN1 variants, which delayed the diagnosis, we aimed to verify the presence of MRI patterns of white matter involvement specific to this HSP. METHODS: We performed a retrospective radiological qualitative analysis of 15 subjects with SPG76 (4 previously unreported) initially screened for white matter involvement. Moreover, we performed quantitative analyses in our proband with available longitudinal studies. RESULTS: We observed bilateral, periventricular white matter involvement in 12 subjects (80%), associated with multifocal subcortical abnormalities in 5 of them (33.3%). Three subjects (20%) presented only multifocal subcortical involvement. Longitudinal quantitative analyses of our proband revealed increase in multifocal white matter lesion count and increased area of periventricular white matter involvement over time. DISCUSSION: SPG76 should be added to the list of HSPs with associated white matter abnormalities. We identified periventricular white matter involvement in subjects with SPG76, variably associated with multifocal subcortical white matter abnormalities. These findings, in the presence of progressive spastic paraparesis, can mislead the diagnostic process towards an acquired white matter disorder.


Assuntos
Paraparesia Espástica , Paraplegia Espástica Hereditária , Substância Branca , Humanos , Substância Branca/diagnóstico por imagem , Substância Branca/patologia , Estudos Retrospectivos , Paraplegia Espástica Hereditária/diagnóstico por imagem , Paraplegia Espástica Hereditária/genética , Imageamento por Ressonância Magnética
2.
J Biomech ; 133: 110970, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35123205

RESUMO

Tendons are involved in multiple disorders and injuries, ranging from birth deformities to tendinopathies to acute ruptures. The ability to characterize embryonic tendon mechanical properties will enable elucidation of mechanisms responsible for functional tendon formation. In turn, an understanding of tendon development could inform approaches for adult and embryonic tendon tissue engineering and regenerative medicine. The chick embryo is a scientifically relevant model that we have been using to study Achilles (calcaneal) tendon development. Chick embryo calcaneal tendons are challenging to mechanically test due to small size and delicate nature, and difficulty distinguishing embryonic tendons from muscle and fibrocartilage using the naked eye. Here, we developed and implemented a "marking protocol" to identify and isolate calcaneal tendons at different stages of chick embryonic development. Mechanical testing of tendons isolated using the marking protocol revealed trends in mechanical property development that were not observed with tendons isolated by naked eye (eyeballing). Marked tendons exhibited non-linear increases in tensile modulus and ultimate tensile strength, whereas eyeballed tendons exhibited linear increases in the same properties, reflecting a need for the marking protocol. Furthermore, the tensile mechanical properties characterized for marked tendons are consistent with previously reported trends in cell length-scale mechanical properties measured using atomic force microscopy. This report establishes new methodology to enable tensile testing of chick embryo tendons and provides new information about embryonic tendon mechanical property development.


Assuntos
Tendão do Calcâneo , Tendões , Animais , Embrião de Galinha , Microscopia de Força Atômica , Tendões/fisiologia , Resistência à Tração , Engenharia Tecidual/métodos
5.
JMIR Mhealth Uhealth ; 3(2): e41, 2015 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-25993907

RESUMO

BACKGROUND: Overweight and obesity are international public health issues. With mobile and app use growing globally, the development of weight loss apps are increasing along with evidence that interventions using technology have been effective in the treatment of obesity. Although studies have been conducted regarding what content health professionals would recommend within weight loss apps, there are limited studies that explore users' viewpoints. There is specifically a paucity of research that takes the cultural background of the user into consideration, especially in Middle Eastern countries where the lives and weight loss intervention needs of women not only vary vastly from the West, but the obesity rate is also increasing exponentially. OBJECTIVE: The current study sought to explore the proposed features of an Arabic weight loss app by seeking the experiences and opinions of overweight and obese Saudi Arabian users in order to design a mobile phone app to fit their needs. METHODS: Focus group discussions were conducted with a purposive sample of volunteer overweight and obese Saudi women (BMI ≥ 25) who were older than 18 years and who owned a mobile phone. The most common Arabic and English weight loss mobile apps were downloaded to initiate dialogue about app usage and to get their opinions on what an ideal weight loss app would look like and the features it would include. All transcribed, translated discussions were thematically analyzed, categorized for each of the main topics of the discussion, and specific quotations were identified. RESULTS: Four focus groups were conducted with a total of 39 participants. Most participants owned an Android mobile phone and only a few participants were aware of the availability of health-related apps. Barriers to weight loss were identified including: motivation, support (social and professional), boring diets, customs, and lifestyle. Diverse themes emerged as suggestions for an ideal weight loss app including: Arabic language and culturally sensitive; motivational support and social networking; dietary and physical activity tools; and a tailorable, user-friendly interface. CONCLUSIONS: This study identifies weight loss app features from the users' perspective, which should be considered in the development of a weight loss app for this population.

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