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1.
JBMR Plus ; 8(3): ziad013, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38505221

RESUMO

Nutrition-related variables including lower body mass index (BMI), lower bone mineral density (BMD), altered body composition and hormone levels have been reported in adolescent idiopathic scoliosis (AIS). The aims of this study were to determine if physiological and behavioral nutrition-related factors differ between people with and without AIS, and to quantify their relationship with AIS, in unbiased cohort sample. BMI, presence of an eating disorder, leptin, adiponectin, BMD, vitamin D, lean mass, and fat mass were compared between those with and without AIS at ages 8, 10, 14, 17, and 20 years, and multiple logistic regression was performed between these variables and AIS. Lower total body BMD (median, 1.0 g/cm2 vs 1.1 g/cm2; p = .03) and lean mass (median, 38.8 kg vs 46.0 kg; p = .04) at age 20 years were observed in those with AIS compared to those without scoliosis. At age 20, the odds of AIS were 3.23 times higher for adolescents with an eating disorder compared to those with no eating disorder (95% CI, 1.02-8.63) when adjusted for BMI. Every 1 kg/m2 increase in BMI decreased the odds of AIS by 0.88 times (95% CI, 0.76-0.98), after adjusting for eating disorder diagnosis. In conclusion, lower BMI in mid-adolescence and presence of eating disorder outcomes, lower BMD, and lower lean mass in late adolescence were associated with the presence of AIS. Current data do not explain the mechanisms for these associations but suggest that serum leptin, adiponectin, and vitamin D are unlikely to be contributing factors. Conclusive determination of the prevalence of eating disorders in AIS will require further studies with larger sample sizes.

2.
Healthc Policy ; 18(1): 32-39, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-36103235

RESUMO

The International Classification of Diseases, Ninth Revision (ICD-9) was released in the 1970s and adopted in Canada for physician billing claims in 1979 (CIHI n.d.b.; WHO & International Conference for the Ninth Revision of the International Classification of Diseases 1977). ICD-9 is no longer adequate for representing our modern healthcare environment and patient needs. We summarize the findings from a small survey of ICD-9 users across Canada - such as family physicians, researchers and decision makers - who describe the limitations of ICD-9 and the features that they would desire in a new or updated classification system.


Assuntos
Classificação Internacional de Doenças , Médicos , Canadá , Humanos , Inquéritos e Questionários
3.
Eur J Med Genet ; 65(4): 104474, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35240321

RESUMO

Neurofibromatosis type 1 (NF1; OMIM #162200) is the commonest multi-systemic neurocutaneous tumour-predisposition disorder. It has an age-related complete penetrance but a highly variable inter- and intra-familial expressivity. This article summarizes the clinical features and molecular characteristics of 832 clinically or molecularly confirmed NF1 patients from 697 unrelated families recruited from a single centre in Hong Kong diagnosed during the 16 years period from Jan 2005 to Jan 2021. In this study, we have estimated the incidences of clinical features, reported on the molecular findings and explored new genotype-phenotype correlations.


Assuntos
Neurofibromatose 1 , Estudos de Associação Genética , Genótipo , Hong Kong/epidemiologia , Humanos , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Fenótipo
4.
Biomed Pharmacother ; 132: 110749, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33017766

RESUMO

BACKGROUND: Clofazimine (CFZ), a riminophenazine, is now commonly used in the treatment of multidrug-resistant tuberculosis. However, its use may be potentially associated with cardiac dysfunction in some individuals. In this study, the zebrafish heart, by merit of its developmental and genetic characteristics being in homology with that of human, was chosen as an animal model for evaluation of such dysfunction. METHODS: Morphological and physiological parameters were used to assess cardiac dysfunction. Transcriptome analysis was performed, followed by validation with real-time quantitative PCR, for delineation of the relevant genomics. RESULTS: Exposure of 2 dpf zebrafish to 4 mg/L CFZ for 2 days, adversely affected cardiac functions including significant decreases in HR, SV, CO, and FS, with observable pathophysiological developments of pericardial effusion and blood accumulation in the heart, in comparison with the control group. In addition, genes which respond to xenobiotic stimulus, related to oxygen transport, glutathione metabolism and extracellular matrix -receptor interactions, were significantly enriched among the differentially up-regulated genes. Antioxidant response element motif was enriched in the 5000 base pair upstream regions of the differentially expressed genes. Co-administration of N-acetylcysteine was shown to protect zebrafish against the development of CFZ-induced cardiac dysfunction. CONCLUSIONS: This study suggests an important role of oxidative stress as a major pathogenetic mechanism of riminophenazine-induced cardiac dysfunction.


Assuntos
Antituberculosos/toxicidade , Clofazimina/toxicidade , Cardiopatias/induzido quimicamente , Estresse Oxidativo/efeitos dos fármacos , Acetilcisteína/farmacologia , Animais , Modelos Animais de Doenças , Perfilação da Expressão Gênica , Cardiopatias/fisiopatologia , Cardiopatias/prevenção & controle , Peixe-Zebra
5.
CJC Open ; 1(3): 107-114, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-32159092

RESUMO

BACKGROUND: Optimal design of clinical programs for patients with premature atherosclerotic cardiovascular disease (ASCVD) (men aged ≤ 50 years, women aged ≤ 55 years) requires an understanding of their priorities. We aimed to explore patient and family priorities for services in clinical programs. METHODS: We co-designed this study with a Patient Partner Committee using a sequential exploratory mixed-methods design. In Phase I, we conducted semistructured interviews with participants from the Study to Avoid Cardiovascular Events in British Columbia (SAVE BC) (n = 15). In Phase II, we designed a questionnaire based on Phase I data and distributed it to all current SAVE BC participants. We collected close-ended responses (n = 116) and stratified data using participant category (index, family member), age, sex, and number of clinic visits. RESULTS: We identified 4 major priorities for services in clinical programs: social support (weight: 62.6%), patient education (weight: 83.5%), mental health (weight: 50.7%), and lifestyle changes (85.1%). To address these priorities, participants wanted ASCVD clinical programs to enable recruitment of their family members, establish a comprehensive education component (with research updates in research programs), deliver mental health screening and support after myocardial infarction, and provide longitudinal sessions to support maintenance of lifestyle modifications. These services were identified in Phase I and verified in Phase II. CONCLUSION: We identified 4 priorities for services in clinical programs designed for patients with premature ASCVD and their families. Further research should be done to elucidate their outcomes and most effective methods to provide these services.


INTRODUCTION: La conception optimale des programmes cliniques des patients atteints d'une maladie cardiovasculaire athéroscléreuse (ASCVD pour atherosclerotic cardiovascular disease) prématurée (hommes âgés ≤ 50 ans, femmes âgées ≤ 55 ans) exige une compréhension de leurs priorités. Nous avions pour objectif d'examiner les priorités des patients et de leur famille en matière de services dans les programmes cliniques. MÉTHODES: Nous avons conçu la présente étude en collaboration avec le Patient Partner Commitee à l'aide d'un devis séquentiel exploratoire en méthodes mixtes. À la Phase 1, nous avons réalisé des entrevues auprès de participants de la Study to Avoid Cardiovascular Events in British Columbia (SAVE BC) (n = 15). À la Phase II, nous avons conçu un questionnaire en nous basant sur les données de la Phase I et l'avons distribué à tous les participants actuels de la SAVE BC. Nous avons recueilli les réponses fermées (n = 116) et stratifié les données en utilisant la catégorie (indice, membre de la famille), l'âge, le sexe et le nombre de consultations des participants. RÉSULTATS: Nous avons défini les 4 grandes priorités en matière de services dans les programmes cliniques : le soutien social (62,6 %), l'éducation des patients (83,5 %), la santé mentale (50,7 %) et les changements au mode de vie (85,1 %). Pour répondre à ces priorités, les participants voulaient des programmes cliniques sur la ASCVD pour favoriser le recrutement des membres de leur famille, établir un volet d'éducation complet (avec les dernières informations sur les travaux de recherche des programmes de recherche), offrir le dépistage de la santé mentale et le soutien après l'infarctus du myocarde, et offrir des séances longitudinales qui assureront le maintien des modifications au mode de vie. Ces services ont été définis à la Phase I et vérifiés à la Phase II. CONCLUSION: Nous avons défini les 4 priorités en matière de services dans les programmes cliniques conçus pour les patients atteints d'une ASCVD prématurée et leur famille. D'autres recherches devraient être réalisées pour élucider leurs résultats et les méthodes les plus efficaces pour offrir ces services.

6.
Mol Autism ; 9: 34, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29796238

RESUMO

Background: Past studies have shown that robot-based intervention was effective in improving gestural use in children with autism spectrum disorders (ASD). The present study examined whether children with ASD could catch up to the level of gestural production found in age-matched children with typical development and whether they showed an increase in verbal imitation after the completion of robot-based training. We also explored the cognitive and motor skills associated with gestural learning. Methods: Children with ASD were randomly assigned to two groups. Four- to 6-year-old children with ASD in the intervention group (N = 15) received four 30-min robot-based gestural training sessions. In each session, a social robot, NAO, narrated five stories and gestured (e.g., both hands clapping for an awesome expression). Children with ASD were told to imitate the gestures during training. Age-matched children with ASD in the wait-list control group (N = 15) and age-matched children with typical development (N = 15) received the gestural training after the completion of research. Standardized pretests and posttests (both immediate and delayed) were administered to assess the accuracy and appropriateness of gestural production in both training and novel stories. Children's language and communication abilities, gestural recognition skills, fine motor proficiencies, and attention skills were also examined. Results: Children with ASD in the intervention condition were more likely to produce accurate or appropriate intransitive gestures in training and novel stories than those in the wait-list control. The positive learning outcomes were maintained in the delayed posttests. The level of gestural production accuracy in children with ASD in the delayed posttest of novel stories was comparable to that in children with typical development, suggesting that children with ASD could catch up to the level of gestural production found in children with typical development. Children with ASD in the intervention condition were also more likely to produce verbal markers while gesturing than those in the wait-list control. Gestural recognition skills were found to significantly predict the learning of gestural production accuracy in the children with ASD, with such relation partially mediated via spontaneous imitation. Conclusions: Robot-based intervention may reduce the gestural delay in children with ASD in their early childhood.


Assuntos
Transtorno do Espectro Autista/reabilitação , Intervenção Educacional Precoce/métodos , Gestos , Robótica/métodos , Povo Asiático , Transtorno do Espectro Autista/etnologia , Criança , Desenvolvimento Infantil , Pré-Escolar , Feminino , Humanos , Idioma , Masculino
7.
Food Chem Toxicol ; 119: 425-429, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29258954

RESUMO

Bedaquiline (BDQ) is a newly approved anti-tuberculosis drug in treating multidrug-resistant tuberculosis. However, it has very poor aqueous solubility and several case reports have proposed that BDQ has potential risk of cardiotoxicity to patients. In this present study, we have explored into employing host-guest interactions between a synthetic receptor, cucurbit[7]uril (CB[7]), and BDQ aiming to improve the solubility and reduce the inherent cardiotoxicity of BDQ. HPLC-UV test on the solubility of BDQ in the absence and in the presence of increasing concentrations of CB[7] suggested a host-dependent guest-solubility enhancements. Cardiovascular studies using an in vivo zebrafish model demonstrated that the cardiotoxicity of BDQ was indeed alleviated upon its complexations by the synthetic receptor. Furthermore, our in vitro antibacterial studies suggested that CB[7] formulated BDQ preserved its antimycobacterial efficacy against Mycobacterium smegmatis. Therefore, CB[7] may become a suitable pharmaceutical excipient in formulating BDQ for improving its physiochemical properties (such as solubility), and for alleviating its side effects (such as cardiotoxicity), while the antimycobacterial efficacy of BDQ may be well maintained.


Assuntos
Antituberculosos/uso terapêutico , Diarilquinolinas/toxicidade , Coração/efeitos dos fármacos , Tuberculose Resistente a Múltiplos Medicamentos/tratamento farmacológico , Animais , Animais Geneticamente Modificados , Hidrocarbonetos Aromáticos com Pontes/farmacologia , Cromatografia Líquida de Alta Pressão , Imidazóis/farmacologia , Testes de Sensibilidade Microbiana , Mycobacterium smegmatis/efeitos dos fármacos , Solubilidade , Peixe-Zebra/embriologia
9.
Am J Phys Med Rehabil ; 92(9): 776-80, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23478456

RESUMO

OBJECTIVE: The aim of this study was to investigate the effect of walkway length (5, 8, or 10 m) on measurements of comfortable and maximum walking speed in healthy older adults. DESIGN: In this cross-sectional study at a university-based rehabilitation center, 25 healthy older adults (mean age, 60.3 ± 8.3 yrs) participated in timed walking at both comfortable and maximum speeds with different walkway lengths (5-, 8-, and 10-m walkway distances) measured by a stopwatch. RESULTS: Walkway length did not affect either comfortable walking speed (P = 0.319) or maximum walking speed (P = 0.568). For all walkway lengths, comfortable speed was significantly different from maximum speed (P < 0.001). CONCLUSIONS: Different walkway lengths (5, 8, and 10 m) do not affect both comfortable and maximum walking speed and can yield consistent results in measuring gait speed clinically. A 5-m walkway with standardized 2-m acceleration and 2-m deceleration distances is recommended because it occupies less space and imposes less stress on the healthy older adults.


Assuntos
Aceleração , Envelhecimento/fisiologia , Tolerância ao Exercício/fisiologia , Avaliação Geriátrica/métodos , Caminhada/fisiologia , Idoso , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Valores de Referência
10.
J Rehabil Med ; 44(1): 43-6, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22234320

RESUMO

OBJECTIVES: To investigate the effect of walkway length (5, 8 or 10 m) on measurements of comfortable and maximum walking speed. DESIGN: A cross-sectional study. SETTING: University-based rehabilitation centre. SUBJECTS: Patients (n = 25) with chronic stroke. METHODS: Timed walking with different walkway lengths (5, 8 and 10 m) walkways were recorded using a stop-watch. RESULTS: No significant effect of walkway length was found on either the comfortable or maximum walking speed in subjects with chronic stroke. For all walkway lengths, comfortable speed was significantly different from maximum speed (p<0.001). CONCLUSION: There is no significant effect of walkway length (5, 8 and 10 m) on either comfortable or maximum walking speed. Different walkway lengths can yield consistent results in measuring gait speed clinically. A 5-m walkway with standardized 2-m acceleration and deceleration distances is recommended as it occupies the least space and imposes less stress on subjects.


Assuntos
Reabilitação do Acidente Vascular Cerebral , Caminhada/fisiologia , Adulto , Idoso , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pesos e Medidas
11.
Cancer Res ; 66(8): 4133-8, 2006 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-16618734

RESUMO

Loss of DNA copy number at the short arm of chromosome 3 is one of the most common genetic changes in human lung cancer, suggesting the existence of one or more tumor suppressor genes (TSG) at 3p. To identify most frequently deleted regions and candidate TSGs within these regions, a recently developed single-nucleotide polymorphism (SNP)-mass spectrometry-genotyping (SMSG) technology was applied to investigate the loss of heterozygosity (LOH) in 30 primary non-small-cell lung cancers. A total of 386 SNP markers that spanned a region of 70 Mb at 3p, from 3pter to 3p14.1, were selected for LOH analysis. The average intermarker distance in the present study is approximately 180 kb. Several frequently deleted regions, including 3p26.3, 3p25.3, 3p24.1, 3p23, and 3p21.1, were found. Several candidate TSGs within these frequently detected LOH regions have been found, including APG7L at 3p25.3, CLASP2 at 3p23, and CACNA2D3 at 3p21.1. This study also showed that SMSG technology is a very useful approach to rapidly define the minimal deleted region and to identify target TSGs in a given cancer.


Assuntos
Carcinoma Pulmonar de Células não Pequenas/genética , Cromossomos Humanos Par 3/genética , Perda de Heterozigosidade , Neoplasias Pulmonares/genética , Genes Supressores de Tumor , Genótipo , Humanos , Hibridização de Ácido Nucleico , Polimorfismo de Nucleotídeo Único , Reprodutibilidade dos Testes , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz
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