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1.
Int J Obes (Lond) ; 46(7): 1280-1287, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35306529

RESUMO

INTRODUCTION: The corona virus disease 2019 (COVID-19) pandemic forced most of the Italian population into lockdown from 11 March to 18 May 2020. A nationwide survey of Italian Clinical Nutrition and Dietetic Services (Obesity Centers or OCs) was carried out to assess the impact of lockdown restrictions on the physical and mental wellbeing of patients with obesity (PWO) who had follow-up appointments postponed due to lockdown restrictions and to compare determinants of weight gain before and after the pandemic. METHODS: We designed a structured 77-item questionnaire covering employment status, diet, physical activity and psychological aspects, that was disseminated through follow-up calls and online between 2 May and 25 June 2020. Data were analyzed by multiple correspondence analysis (MCA) and multiple linear regression. RESULTS: A total of 1,232 PWO from 26 OCs completed the questionnaires (72% female, mean age 50.2 ± 14.2 years; mean BMI 34.7 ± 7.6 kg/m2; 41% obesity class II to III). During the lockdown, 48.8% gained, 27.1% lost, while the remainder (24.1%) maintained their weight. The mean weight change was +2.3 ± 4.8 kg (in weight gainers: +4.0 ± 2.4 kg; +4.2% ± 5.4%). Approximately 37% of participants experienced increased emotional difficulties, mostly fear and dissatisfaction. Sixty-one percent reduced their physical activity (PA) and 55% experienced a change in sleep quality/quantity. The lack of online contact (37.5%) with the OC during lockdown strongly correlated with weight gain (p < 0.001). Using MCA, two main clusters were identified: those with unchanged or even improved lifestyles during lockdown (Cluster 1) and those with worse lifestyles during the same time (Cluster 2). The latter includes unemployed people experiencing depression, boredom, dissatisfaction and increased food contemplation and weight gain. Within Cluster 2, homemakers reported gaining weight and experiencing anger due to home confinement. CONCLUSIONS: Among Italian PWO, work status, emotional dysregulation, and lack of online communication with OCs were determinants of weight gain during the lockdown period.


Assuntos
COVID-19 , Adulto , COVID-19/epidemiologia , COVID-19/prevenção & controle , Controle de Doenças Transmissíveis , Feminino , Humanos , Estilo de Vida , Masculino , Pessoa de Meia-Idade , Obesidade/epidemiologia , Obesidade/psicologia , SARS-CoV-2 , Inquéritos e Questionários , Aumento de Peso
2.
Int J Immunogenet ; 41(2): 138-42, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24034632

RESUMO

The possible association of three DEFB1 gene polymorphisms with susceptibility to develop ulcerative colitis (UC) and Crohn's disease (CD) was investigated in Brazilian patients and controls. Although a clear and strong association between functional 5'-UTR DEFB1 SNPs and susceptibility/protection to IBDs cannot be drawn, our results suggest a possible involvement of DEFB1 gene in inflammatory bowel diseases, especially with the colonic localization of Crohn's disease.


Assuntos
Regiões 5' não Traduzidas , Doenças Inflamatórias Intestinais/genética , beta-Defensinas/genética , Adulto , Brasil , Estudos de Casos e Controles , Colite Ulcerativa/genética , Doença de Crohn/genética , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Polimorfismo de Nucleotídeo Único
3.
Rheumatol Int ; 33(9): 2445-6, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22562750

RESUMO

In chronic diseases such as rheumatoid arthritis and osteoarthritis, the progression of the disease is characterized by stress oxidative, inflammation, and elevated levels of cholesterol. In mevalonate kinase deficiency, an auto-inflammatory disease, the correlation between inflammation and cholesterol levels is opposite. The metabolic pathway that underlies the production of cholesterol is the mevalonate pathway; it is also essential for the biosynthesis of isoprenoids involved in the control of several cell functions. This divergence of cholesterol levels, associated with these two inflammatory disorders, is probably due to a different etiology, pathogenesis, and progression.


Assuntos
Artrite Reumatoide/sangue , Mediadores da Inflamação/sangue , Lipídeos/sangue , Osteoartrite/sangue , Estresse Oxidativo , Feminino , Humanos , Masculino
4.
Med Hypotheses ; 80(1): 67-9, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23168296

RESUMO

Mevalonate Kinase Deficiency (MKD) is an autosomal-recessively inherited disorder of cholesterol biosynthesis with higher prevalence in the Netherlands and other North European countries. MKD is due to mutations in the second enzyme of mevalonate pathway (mevalonate kinase, MK/MVK) which results in reduced enzymatic activity and in the consequent shortage of downstream compounds. In most severe cases the deregulation of mevalonate pathway is associated with a decrease in serum cholesterol. More than 100 pathological mutations have been described in the MVK gene so far, and a founder effect has been hypothesized as responsible for the diffusion of the most frequent disease-associated mutations. In the acute phase of disease, patients affected with MKD present low cholesterol levels comparable to their basal physiologic conditions, already characterized by lower cholesterol levels when compared to healthy individuals. Low cholesterol levels are widely known to correlate with the reduction of cardiovascular events. We hypothesize a selective advantage for heterozygote carriers of the most frequent MVK mutations in those countries where the diet is characterized by high consumption of saturated animal fats rich in cholesterol. This could explain the maintenance in North European population of the main mutations leading to MKD and the distribution world-wide of these mutations that followed the migrations of North European populations.


Assuntos
Evolução Biológica , Predisposição Genética para Doença/genética , Deficiência de Mevalonato Quinase/epidemiologia , Deficiência de Mevalonato Quinase/genética , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Seleção Genética , Colesterol/sangue , Dieta Hiperlipídica , Europa (Continente)/epidemiologia , Genes Recessivos/genética , Humanos , Modelos Biológicos , Mutação/genética
6.
Leukemia ; 21(1): 72-8, 2007 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17096012

RESUMO

Fanconi anemia (FA) is an autosomal recessive disease characterized by pancitopenia, congenital malformations, predisposition to cancers and chromosomal instability. We report the clinical and molecular features of a patient initially identified as a potential FA case only because of chemotherapy toxicity during the treatment of a T-lineage acute lymphoblastic leukemia (ALL). Cells from this patient showed a moderate chromosomal instability, increasing sensitivity to DNA crosslinking agents but normal response to ionizing radiation. The analysis of FA proteins demonstrated a marked reduction of FANCD2 (>95%), but normal levels of FANCA or FANCG. Interestingly, this defect was associated with a homozygous missense mutation of FANCD2, resulting in a novel amino-acid substitution (Leu153Ser) at residue Leu153, which is highly conserved through evolution. The FANCD2(L153S) protein, whose reduced expression was not due to impaired transcription, was detected also in its monoubiquitinated form in the nucleus, suggesting that the mutation does not affect post-translation modifications or subcellular localization but rather the stability of FANCD2. Therefore, the hypomorphic Leu153Ser mutation represents the first example of a FANCD2 defect that might promote clonal progression of tumors, such as T-ALL, and severe chemotherapy toxicity in patients without any clinical manifestations typical of FA.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Proteína do Grupo de Complementação D2 da Anemia de Fanconi/genética , Leucemia-Linfoma de Células T do Adulto/tratamento farmacológico , Leucemia-Linfoma de Células T do Adulto/genética , Mutação , Substituição de Aminoácidos , Antígenos CD , Antígenos de Diferenciação Mielomonocítica , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Antígenos CD13 , Criança , Instabilidade Cromossômica , Progressão da Doença , Anemia de Fanconi/genética , Humanos , Infecções/etiologia , Infecções/genética , Leucemia-Linfoma de Células T do Adulto/fisiopatologia , Masculino , Pancitopenia/induzido quimicamente , Pancitopenia/genética , Indução de Remissão , Lectina 3 Semelhante a Ig de Ligação ao Ácido Siálico
7.
Hum Mutat ; 17(5): 433, 2001 May.
Artigo em Inglês | MEDLINE | ID: mdl-11317362

RESUMO

We screened a group of patients from southern Italy with clinically diagnosed familial hypercholesterolemia (FH) for mutations of the LDL receptor (LDLR) gene. RNA from each proband was analysed by RT-PCR followed by complete cDNA sequencing. Among 51 unrelated FH families we detected 17 mutations affecting the coding region of the LDLR gene. Five of these mutations, designated R395P, L783fsinsG, IVS15-3C>A, IVS3+5G>A, and 1698-1704delCACCCTAinsGCCCAAT (ITL545MPN), have not yet been reported in the literature. Interestingly, the novel IVS15-3C>A splicing mutation was detected in 20% of our unrelated FH families, suggesting an unusually high prevalence in our local population. Hum Mutat 17:433, 2001.


Assuntos
Frequência do Gene/genética , Hiperlipoproteinemia Tipo II/genética , Mutação/genética , Receptores de LDL/genética , Sequência de Bases , Análise Mutacional de DNA , DNA Complementar/genética , Humanos , Hiperlipoproteinemia Tipo II/epidemiologia , Itália/epidemiologia , Mutação de Sentido Incorreto/genética , Polimorfismo Genético/genética , Prevalência , Sítios de Splice de RNA/genética , RNA Mensageiro/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa
8.
World Rev Nutr Diet ; 61: 64-131, 1990.
Artigo em Inglês | MEDLINE | ID: mdl-2408256

RESUMO

A nutritional needs assessment was conducted among rural agricultural migrant women (target group) and children (less than 5 years). The study was conducted in Vila Diogo, a slum located on the periphery of Nuporanga, a village in Sao Paulo state, Brazil. A nutrition education program was designed on the basis of evidence obtained from demographic/socioeconomic information of the study population and a nutritional needs assessment of women (target group) and children less than 5 years of age. The nutritional needs assessment consisted of anthropometry, dietary assessment, and nutrition knowledge, attitudes, and beliefs questionnaires. Formative and summative evaluation of the nutrition education program, using appropriately selected criteria and comparisons of nutrition knowledge scores before and after the program, were used to determine program effectiveness. Major findings of the study were: Diets of Vila Diogo residents were generally simplistic, consisting primarily of rice, beans, and coffee with sugar. Vila Diogo women appeared to be at a relatively high risk for vitamin A, iron, calcium, ascorbic, and riboflavin deficiencies, based on comparisons of 24-hour dietary intake data with FAO recommendations. Children (2-5 years) appeared at high risk for vitamin A, iron, and ascorbic acid deficiencies, based on comparisons of 24-hour dietary intake data with FAO recommendations. All children less than 5 years of age had been breast-fed at birth, but more than one half of children had been weaned by the third month. Infant feeding practices during fever and diarrhea were nutritionally detrimental. Women generally recognized a relationship between dietary intake during pregnancy and fetal nourishment. Using weight-for-height index, a significant number of women were probably undernourished; a small percentage of women, however, were overweight or obese. Although children less than 5 years of age did not generally appear malnourished, a relatively large number were stunted in growth. Although Vila Diogo women reported many food taboos during various physiological states (menstruation, pregnancy, immediately post partum, lactation), relatively few food taboos had potentially negative nutritional consequences. For women who participated in the nutrition education program, nutrition knowledge scores after the program showed improvement which was statistically significant at alpha = 0.05, using Wilcoxon signed rank test.


Assuntos
Avaliação Nutricional , Ciências da Nutrição/educação , Migrantes , Brasil , Necessidades e Demandas de Serviços de Saúde , Humanos , Projetos Piloto , Avaliação de Programas e Projetos de Saúde , População Rural
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