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1.
PLoS One ; 17(9): e0274412, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36129901

RESUMO

Dietary supplements are products containing dietary elements including vitamins, minerals, amino acids, herbs, or botanicals. They can aid consumers with low dietary intake and quality, as well as those with high demands, by boosting nutritious value. A cross-sectional study was conducted among adults living in Saudi Arabia aged between 18-60 years old using online self-administered questionnaire. Information regarding sociodemographic characteristics, use and type of dietary supplements, and attitude toward and patterns of dietary supplement use was collected. The chi-square test, Pearson correlations, and the independent t-test were used. In total, 531 participants (115 men and 416 women) were included. Approximately half of the participants (51.8%, n = 275) used dietary supplements. Participants who were using dietary supplements were significantly younger (29.16 ± 9.32 years), more highly educated (85.5%, n = 235), and worked in the health sector (63.7%, n = 100). Herbal supplement use was associated with older age and female sex. Single mineral supplements were used more frequently by married, female, pregnant, or breastfeeding participants and those not working in the health sector. Fatty supplements were used more frequently by participants with a higher level of education. Regarding the attitude toward dietary supplement use, women, single participants, and health care workers showed a significant positive attitude. In-depth investigation into the amount of and reasons for dietary supplement use in the health sector is required. Additionally, educating pregnant and breastfeeding women on the importance of dietary supplements is necessary.


Assuntos
Suplementos Nutricionais , Vitaminas , Adolescente , Adulto , Aminoácidos , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Minerais , Gravidez , Prevalência , Arábia Saudita , Adulto Jovem
3.
Am J Med Genet A ; 170A(5): 1236-41, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26804344

RESUMO

Crisponi/CISS1 syndrome (MIM#272430) is a rare autosomal recessive disease characterized by major feeding difficulties, camptodactyly, and anhidrosis in early childhood; and the subsequent development of paradoxical cold-induced sweating and scoliosis later in life. The syndrome is caused by biallelic mutations in CRLF1 or, much less commonly, CLCF1. Although genotype/phenotype correlation has been elusive, it has been suggested that the level of the mutant protein may correlate with the phenotypic severity. However, we show in this series of 12 patients from four families, all previously unpublished, that the homogeneity of the recently described c.983dupG (p.Ser328Argfs∗2) mutation in CRLF1 was associated with a highly variable degree of severity, and that the phenotype significantly overlaps with the recently described COG6-related anhidrosis syndrome (MIM#615328). Another fifth previously unpublished family is also described with a novel mutation in CRLF1, c.605delC (p.Ala202Valfs*32). In Saudi Arabia the prevalence of the syndrome is probably underestimated due to the difficulty in making the diagnosis considering the complex phenotype with typical neonatal and evolutive features.


Assuntos
Deformidades Congênitas da Mão/genética , Hiperidrose/genética , Hipo-Hidrose/genética , Receptores de Citocinas/genética , Trismo/congênito , Proteínas Adaptadoras de Transporte Vesicular/genética , Adolescente , Adulto , Criança , Pré-Escolar , Citocinas/genética , Morte Súbita , Fácies , Feminino , Estudos de Associação Genética , Deformidades Congênitas da Mão/fisiopatologia , Humanos , Hiperidrose/fisiopatologia , Hipo-Hidrose/fisiopatologia , Masculino , Mutação , Linhagem , Trismo/genética , Trismo/fisiopatologia
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