Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Arch Pediatr ; 31(1): 20-25, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37989662

RESUMO

BACKGROUNDS: Childhood obesity is a real public health concern because of its association with a higher risk of adulthood obesity and comorbidities (metabolic, cardiovascular, etc.). The factors associated with the effectiveness of care are poorly described. The objective of this study was to identify factors associated with body mass index (BMI) variation in the management of childhood obesity. MATERIAL AND METHODS: Children followed up for obesity in the Pediatric Endocrinology Department of the University Children Hospital of Nancy were included. Data were retrospectively collected in medical files. The characteristics of patients with a decrease in BMI (in standard deviation score, SDS) were compared with patients with an increased BMI (SDS)after 1 year of follow-up through univariate analysis. RESULTS: Overall, 141 patients were included, and for 107 patients (55 girls and 52 boys) there were 1-year follow-up data. The mean BMI variation after 1 year of follow-up was-0.068 SD and for 63 patients (58.9%) there was a decrease in BMI SDS. Female patients (66% vs. 41%, p=0.012), hypercholesterolemia (33% vs. 4%, p=0.049), and type 1 diabetes (14% vs. 2%, p=0.019) were more frequent in patients with an unfavorable evolution of BMI SDS at 1 year. A family history of bariatric surgery (36% vs. 11%, p=0.042) or eating behavior disorders (76% vs. 24% of patients; p<0.001) or diabetes (1st or 2nd degree;81% vs. 60%, p=0.044) were also more frequent in children with an unfavorable evolution of BMI SDS at 1 year. CONCLUSION: Several negative factors in the evolution of BMI were identified such as female sex, hypercholesterolemia, family history of bariatric surgery, or eating behavior. Early identification of these patients at risk of failure of obesity management is important to control BMI during childhood.


Assuntos
Hipercolesterolemia , Obesidade Infantil , Masculino , Humanos , Criança , Feminino , Adulto , Obesidade Infantil/epidemiologia , Obesidade Infantil/terapia , Estudos de Coortes , Estudos Retrospectivos , Índice de Massa Corporal
2.
Hum Genet ; 141(7): 1239-1251, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34652574

RESUMO

Inherited disorders of cobalamin (cbl) metabolism (cblA-J) result in accumulation of methylmalonic acid (MMA) and/or homocystinuria (HCU). Clinical presentation includes ophthalmological manifestations related to retina, optic nerve and posterior visual alterations, mainly reported in cblC and sporadically in other cbl inborn errors.We searched MEDLINE EMBASE and Cochrane Library, and analyzed articles reporting ocular manifestations in cbl inborn errors. Out of 166 studies a total of 52 studies reporting 163 cbl and 24 mut cases were included. Ocular manifestations were found in all cbl defects except for cblB and cblD-MMA; cblC was the most frequent disorder affecting 137 (84.0%) patients. The c.271dupA was the most common pathogenic variant, accounting for 70/105 (66.7%) cases. One hundred and thirty-seven out of 154 (88.9%) patients presented with early-onset disease (0-12 months). Nystagmus and strabismus were observed in all groups with the exception of MMA patients while maculopathy and peripheral retinal degeneration were almost exclusively found in MMA-HCU patients. Optic nerve damage ranging from mild temporal disc pallor to complete atrophy was prevalent in MMA-HCU.and MMA groups. Nystagmus was frequent in early-onset patients. Retinal and macular degeneration worsened despite early treatment and stabilized systemic function in these patients. The functional prognosis remains poor with final visual acuity < 20/200 in 55.6% (25/45) of cases. In conclusion, the spectrum of eye disease in Cbl patients depends on metabolic severity and age of onset. The development of visual manifestations over time despite early metabolic treatment point out the need for specific innovative therapies.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Homocistinúria , Degeneração Macular , Degeneração Retiniana , Erros Inatos do Metabolismo dos Aminoácidos/complicações , Erros Inatos do Metabolismo dos Aminoácidos/genética , Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Homocistinúria/complicações , Homocistinúria/genética , Humanos , Ácido Metilmalônico , Mutação , Retina/metabolismo , Vitamina B 12/metabolismo
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...