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1.
Pediatr Dermatol ; 39(5): 734-736, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35644875

RESUMO

Data on skin manifestations associated with pediatric obesity are limited. We conducted a prospective study to evaluate the association of pediatric obesity with skin dermatoses and dermatologic quality of life. Our findings suggest that ongoing monitoring of skin problems is recommended for children with obesity.


Assuntos
Obesidade Infantil , Dermatopatias , Criança , Humanos , Obesidade Infantil/complicações , Obesidade Infantil/epidemiologia , Estudos Prospectivos , Qualidade de Vida , Pele , Dermatopatias/complicações , Dermatopatias/etiologia
2.
Pediatr Dermatol ; 39(2): 205-210, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35178768

RESUMO

BACKGROUND/OBJECTIVES: Café-au-lait macules (CALMs) are a characteristic feature of neurofibromatosis type 1 (NF1), but also occur in other genetic disorders. Differential diagnosis of CALMs remains challenging and can be stressful for families. We sought to examine the role of an established CALMs screening clinic in diagnosing CALMs-related disorders. METHOD: We retrospectively reviewed patients seen between July 2012 and January 2019 in a CALMs screening clinic at The Hospital for Sick Children, a tertiary pediatric hospital in Toronto, Canada. Pediatric patients were referred because of multiple CALMs or suspected NF1. Selection was based on a chronological referral sample with no exclusions. A pediatric dermatologist examined all patients for CALMs and NF1 manifestations. Genetic testing was offered to confirm a clinical diagnosis or when clinical findings were inconclusive. RESULTS: Three hundred patients, of which 152 (50.7%) were female and had a mean age of 5.6 ± 4.8 years were seen during the study period. NF1 was diagnosed in 76 (25.3%) patients, mosaic NF1 in 38 (12.7%) patients, and 8 (2.7%) patients received other genetic diagnoses. One hundred and twelve (37.3%) patients were diagnosed with isolated CALMs not associated with an underlying genetic disease. Furthermore, 36 (12%) of our patients did not have CALMs. CONCLUSIONS: The CALMs screening clinic aided in the early diagnosis of genetic disorders such as NF1 and distinguished CALMs from other hyperpigmented lesions. We encourage the adoption of this clinic model in referral centers to streamline and optimize care of patients with presumptive diagnosis of CALMs.


Assuntos
Manchas Café com Leite , Neurofibromatose 1 , Manchas Café com Leite/complicações , Criança , Pré-Escolar , Feminino , Testes Genéticos , Hospitais , Humanos , Lactente , Masculino , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Estudos Retrospectivos
3.
J Neurophysiol ; 120(4): 1602-1615, 2018 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-29995600

RESUMO

Successful motor performance relies on our ability to adapt to changes in the environment by learning novel mappings between motor commands and sensory outcomes. Such adaptation is thought to involve two distinct mechanisms: an implicit, error-based component linked to slow learning and an explicit, strategic component linked to fast learning and savings (i.e., faster relearning). Because behavior, at any given moment, is the resultant combination of these two processes, it has remained a challenge to parcellate their relative contributions to performance. The explicit component to visuomotor rotation (VMR) learning has recently been measured by having participants verbally report their aiming strategy used to counteract the rotation. However, this procedure has been shown to magnify the explicit component. Here we tested whether task-specific eye movements, a natural component of reach planning, but poorly studied in motor learning tasks, can provide a direct readout of the state of the explicit component during VMR learning. We show, by placing targets on a visible ring and including a delay between target presentation and reach onset, that individual differences in gaze patterns during sensorimotor learning are linked to participants' rates of learning and their expression of savings. Specifically, we find that participants who, during reach planning, naturally fixate an aimpoint rotated away from the target location, show faster initial adaptation and readaptation 24 h later. Our results demonstrate that gaze behavior cannot only uniquely identify individuals who implement cognitive strategies during learning but also how their implementation is linked to differences in learning. NEW & NOTEWORTHY Although it is increasingly well appreciated that sensorimotor learning is driven by two separate components, an error-based process and a strategic process, it has remained a challenge to identify their relative contributions to performance. Here we demonstrate that task-specific eye movements provide a direct read-out of explicit strategies during sensorimotor learning in the presence of visual landmarks. We further show that individual differences in gaze behavior are linked to learning rate and savings.


Assuntos
Movimentos Oculares , Aprendizagem , Desempenho Psicomotor , Feminino , Força da Mão , Humanos , Masculino , Rotação , Córtex Sensório-Motor/fisiologia , Adulto Jovem
4.
Dermatol Clin ; 40(1): 9-23, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34799039

RESUMO

Café au lait macules (CALMs) are a normal and frequent finding in the general population, but multiple CALMs raise the possibility of an underlying neurocutaneous disease like neurofibromatosis type I. Certain features of CALMs like number, size, shape, and distribution are important in identifying children at higher risk of having a neurocutaneous disorder or another genetic disorder. Genetic testing can be especially helpful in establishing a diagnosis in atypical presentations, or when the child is young and other features of the disease aside from CALMs have not manifested.


Assuntos
Manchas Café com Leite , Neurofibromatose 1 , Manchas Café com Leite/genética , Criança , Testes Genéticos , Humanos , Neurofibromatose 1/complicações , Neurofibromatose 1/genética
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