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Background: Large to giant congenital melanocytic nevi (LGCMN) significantly decrease patients' quality of life, but the inaccuracy of current classification system makes their clinical management challenging. Objectives: To improve and extend the existing LGCMN 6B/7B classification systems by developing a novel LGCMN classification system based on a new phenotypic approach to clinical tool development. Methods: Three hundred and sixty‐one LGCMN cases were categorized into four subtypes based on anatomic site: bonce (25.48%), extremity (17.73%), shawl (19.67%) and trunks (37.12%) LGCMN. A 'BEST' classification system of LGCMN was established and validated by a support vector machine classifier combined with the 7B system. Results: The most common LGCMN distributions were on bonce and trunks (bathing trunk), whereas breast/belly and body LGCMN were exceptionally rare. Sexual dimorphism characterized distribution, with females showing a wider range of lesions in the genital area. Nearly half of the patients with bathing trunk LGCMN exhibited a butterfly‐like distribution. Approximately half of the LGCMN with chest involvement did not have nipple–areola complex involvement. Abdomen, back and buttock involvement was associated with the presence of satellite nevi (r = 0.558), and back and buttock involvement was associated with the presence of nodules (r = 0.364). Conclusions: The effective quantification of a standardized anatomical site provides data support for the accuracy of the 6B/7B classification systems. The simplified BEST classification system can help establish a LGCMN clinical database for exploration of LGCMN aetiology, disease management and prognosis prediction. [ABSTRACT FROM AUTHOR]

Growth hormone deficiency (GHD) and idiopathic short stature (ISS) are the most common types of short stature (SS), but little is known about their pathogenesis, and even less is known about the study of adolescent SS. In this study, nuclear magnetic resonance (NMR)-based metabolomic analysis combined with least absolute shrinkage and selection operator (LASSO) were performed to identify the biomarkers of different types of SS (including 94 preadolescent GHD (PAG), 61 preadolescent ISS (PAI), 43 adolescent GHD (ADG), and 19 adolescent ISS (ADI)), and the receiver operating characteristic curve (ROC) was further used to evaluate the predictive power of potential biomarkers. The results showed that fourteen, eleven, nine, and fifteen metabolites were identified as the potential biomarkers of PAG, PAI, ADG, and ADI compared with their corresponding controls, respectively. The disturbed metabolic pathways in preadolescent SS were mainly carbohydrate metabolism and lipid metabolism, while disorders of amino acid metabolism played an important role in adolescent SS. The combination of aspartate, ethanolamine, phosphocholine, and trimethylamine was screened out to identify PAI from PAG, and alanine, histidine, isobutyrate, methanol, and phosphocholine gave a high classification accuracy for ADI and ADC. The differences in metabolic characteristics between GHD and ISS in preadolescents and adolescents will contribute to the development of individualized clinical treatments in short stature. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to identify the differential metabolic characteristics of children with overweight and obesity and understand their potential mechanism in different age stratifications. Methods: Four hundred seventy‐three children were recruited and divided into two age stratifications: >4 years (older children) and ≤4 years (younger children), and overweight and obesity were defined according to their BMI percentile. A one dimensional proton nuclear magnetic resonance (1H‐NMR)–based metabolomics strategy combined with pattern recognition methods was used to identify the metabolic characteristics of childhood overweight and obesity. Results: Four and sixteen potential biomarkers related to overweight and two and twenty potential biomarkers related to obesity were identified from younger and older children, respectively. Fluctuations in phenylalanine, tyrosine, glutamine, leucine, histidine, and ascorbate co‐occurred in children with obesity at two age stratifications. The disturbances in biosynthesis and metabolism of amino acids, lipid metabolism, and galactose metabolism disturbance were mainly involved in children with overweight and obesity. Conclusions: The metabolic disturbances show a significant progression from overweight to obesity in children, and different metabolic characteristics were demonstrated in age stratifications. The changes in the levels of phenylalanine, tyrosine, glutamine, leucine, histidine, and ascorbate were tracked with the persistence of childhood obesity. These findings will promote the mechanistic understanding of childhood overweight and obesity. [ABSTRACT FROM AUTHOR]