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1.
Eur J Pediatr ; 183(10): 4563-4571, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39162735

RESUMO

Our study aims to define resting energy expenditure (REE) and describe the main nutritional patterns in a single-center cohort of children with Smith-Magenis syndrome (SMS). REE was calculated using indirect calorimetry. Patients' metabolic status was assessed by comparing measured REE (mREE) with predictive REE (pREE). Patients also underwent multidisciplinary evaluation, anthropometric measurements and an assessment of average energy intake, using a 3-day food diary, which was reviewed by a specialized dietitian. Twenty-four patients (13 M) were included, the median age was 9 years (IC 95%, 6-14 years), 84% had 17p11.2 deletion, and 16% had RAI1 variants. REE was not reduced in SMS pediatric patients, and the mREE did not differ from the pREE. In patients with RAI1 variants (16%, n = 3/24), obesity was more prevalent than those with 17p11.2 deletion (100% vs 38%). Lower proteins intake and higher total energy intake were reported in obese and overweight patients, compared to healthy weight children. No significant difference was found between males and females in energy or macronutrient intake. CONCLUSIONS: In SMS, the onset of obesity is not explained by REE abnormalities, but dietary factors seem to be crucial. Greater concern should be addressed to patients with RAI1 variants. A better understanding of the molecular mechanisms causing obesity in SMS patients could set the basis for possible future targeted therapies. WHAT IS KNOWN: • More than 90% of SMS patients after the age of 10 are overweight or obese. WHAT IS NEW: • Onset of overweight and obesity in SMS pediatric patients is not explained by abnormal resting energy expenditure. • The development of syndrome-specific dietary guidelines for SMS patients should be of utmost relevance and are highly needed.


Assuntos
Síndrome de Smith-Magenis , Humanos , Criança , Masculino , Feminino , Adolescente , Síndrome de Smith-Magenis/genética , Síndrome de Smith-Magenis/fisiopatologia , Metabolismo Energético , Ingestão de Energia , Calorimetria Indireta , Estado Nutricional , Obesidade Infantil/metabolismo , Obesidade Infantil/fisiopatologia , Metabolismo Basal
2.
J Eur Acad Dermatol Venereol ; 38(2): 375-383, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37857489

RESUMO

BACKGROUND: Atopic dermatitis (AD) is a common inflammatory skin disease that affects both children and adults. However, limited research has been conducted on gender differences in AD. OBJECTIVES: This study aimed to assess gender differences in adult AD patients, focusing on demographic and clinical features, comorbidities and treatment approaches. METHODS: In this multicentre, observational, cross-sectional study, we enrolled 686 adult patients with AD (357 males and 329 females). For each patient, we collected demographic data (age and sex), anthropometric measurements (weight, height, hip circumference, waist circumference and waist-to-hip ratio), clinical information (onset age, disease duration, severity, itching intensity, impact on quality of life) and noted comorbidities (metabolic, atopic and other). We recorded past and current topical and systemic treatments. We analysed all collected data using statistical techniques appropriate for both quantitative and qualitative variables. Multiple correspondence analysis (MCA) was employed to evaluate the relationships among all clinical characteristics of the patients. RESULTS: We found no differences in age at onset, disease duration, severity and quality of life impact between males and females. Males exhibited higher rates of hypertriglyceridaemia and hypertension. No significant gender differences were observed in atopic or other comorbidities. Treatment approaches were overlapping, except for greater methotrexate use in males. MCA revealed distinct patterns based on gender, disease severity, age of onset, treatment and quality of life. Adult males with AD had severe disease, extensive treatments and poorer quality of life, while adult females had milder disease, fewer treatments and moderate quality of life impact. CONCLUSIONS: Our study reveals that gender differences in adult AD patients are largely due to inherent population variations rather than disease-related disparities. However, it highlights potential undertreatment of females with moderate AD and quality of life impact, emphasizing the need for equitable AD treatment. JAK inhibitors may offer a solution for gender-based therapeutic parity.


Assuntos
Dermatite Atópica , Masculino , Adulto , Criança , Feminino , Humanos , Dermatite Atópica/tratamento farmacológico , Qualidade de Vida , Estudos Transversais , Fatores Sexuais , Prurido/terapia , Índice de Gravidade de Doença
3.
Sci Rep ; 12(1): 15607, 2022 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-36114349

RESUMO

Several approaches have been developed to estimate age, an important aspect of forensics and orthodontics, using different measures and radiological examinations. Here, through meta-analysis, we determined the validity of age estimation methods and reproducibility of bone/dental maturity indices used for age estimation. The PubMed and Google Scholar databases were searched to December 31, 2021 for human cross-sectional studies meeting pre-defined PICOS criteria that simultaneously assessed the reproducibility and validity. Meta-estimates of validity (mean error: estimated age-chronological age) and intra- and inter-observer reproducibility (Cohen's kappa, intraclass correlation coefficient) and their predictive intervals (PI) were calculated using mixed-effect models when heterogeneity was high (I2 > 50%). The literature search identified 433 studies, and 23 met the inclusion criteria. The mean error meta-estimate (mixed effects model) was 0.08 years (95% CI - 0.12; 0.29) in males and 0.09 (95% CI - 0.12; 0.30) in females. The PI of each method spanned zero; of nine reported estimation methods, Cameriere's had the smallest (- 0.82; 0.47) and Haavikko's the largest (- 7.24; 4.57) PI. The reproducibility meta-estimate (fixed effects model) was 0.98 (95% CI 0.97; 1.00) for intra- and 0.99 (95% CI 0.98; 1.00) for inter-observer agreement. All methods were valid but with different levels of precision. The intra- and inter-observer reproducibility was high and homogeneous across studies.


Assuntos
Publicações , Estudos Transversais , Bases de Dados Factuais , Feminino , Humanos , Masculino , PubMed , Reprodutibilidade dos Testes
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