Modeling Autism Spectrum Disorders with Induced Pluripotent Stem Cell-Derived Brain Organoids.

Autism spectrum disorders (ASD) are a group of complex neurodevelopmental disorders that affect communication and social interactions and present with restricted interests and repetitive behavior patterns. The susceptibility to ASD is strongly influenced by genetic/heritable factors; however, there is still a large gap in understanding the cellular and molecular mechanisms underlying the neurobiology of ASD. Significant progress has been made in identifying ASD risk genes and the possible convergent pathways regulated by these gene networks during development. The breakthrough of cellular reprogramming technology has allowed the generation of induced pluripotent stem cells (iPSCs) from individuals with syndromic and idiopathic ASD, providing patient-specific cell models for mechanistic studies. In the past decade, protocols for developing brain organoids from these cells have been established, leading to significant advances in the in vitro reproducibility of the early steps of human brain development. Here, we reviewed the most relevant literature regarding the application of brain organoids to the study of ASD, providing the current state of the art, and discussing the impact of such models on the field, limitations, and opportunities for future development.

Teledermatologia: correlação diagnóstica em serviço primário de saúde / Teledermatology: diagnostic correlation in a primary care service

FUNDAMENTOS: O termo telemedicina faz referência ao uso de tecnologias de comunicação para a transmissão a distância de informações relacionadas à saúde. Esse recurso é utilizado em várias especialidades médicas, principalmente naquelas em que a interpretação de imagens representa uma etapa fundamental na formulação diagnóstica. OBJETIVO: Avaliar a concordância entre o diagnóstico presencial e o diagnóstico a distância de lesões cutâneas, utilizando a teledermatologia, em pacientes atendidos em uma unidade básica de saúde. MÉTODOS: Foi realizado um estudo prospectivo envolvendo pacientes atendidos no serviço de dermatologia da clínica FTC em Salvador - BA. Participaram do estudo um dermatologista responsável pela consulta presencial e dois dermatologistas responsáveis pela consulta a distância. Os diagnósticos obtidos através da teleconsulta foram avaliados quanto à concordância e comparados com os diagnósticos da consulta presencial. RESULTADOS: Foram incluídos neste estudo 60 pacientes. Observou-se um grau de concordância total variando de 86,6 por cento a 91,6 por cento com índice Kappa de 0,62. CONCLUSÃO: A teledermatologia é uma forma de assistência com um grande potencial de uso na dermatologia, podendo representar uma ferramenta útil principalmente em casos clínicos de baixa complexidade, oriundos de unidades básicas de saúde.

BACKGROUND: Telemedicine can be defined as the use of telecommunication technologies for the transmission of health data. It has been described in different medical specialties, especially those in which interpretation of images represents a fundamental key in formulating diagnosis. OBJECTIVE: To evaluate the role of teledermatology in primary care system. METHODS: A prospective analysis included 60 patients seen in a primary care unit. All patients were seen by a dermatologist as regular outpatient dermatology consultation. A medical student obtained digital images and a brief clinical history of all patients. Using a Telemedicine system these data were reviewed by two dermatologists for distance diagnosis. Agreement between the diagnoses was assessed. RESULTS: Good agreement, ranging from 86.6 percent to 91.6 percent, was achieved between direct observation and teleconsultation. Good agreement was also achieved between two telemedicine diagnosis (Kappa = 0.62). CONCLUSION: Teledermatology is a form of care with great potential for use in dermatology, and could represent a useful tool in cases of low complexity from primary health units.

[Teledermatology: diagnostic correlation in a primary care service]. / Teledermatologia: correlação diagnóstica em serviço primário de saúde.

BACKGROUND: Telemedicine can be defined as the use of telecommunication technologies for the transmission of health data. It has been described in different medical specialties, especially those in which interpretation of images represents a fundamental key in formulating diagnosis. OBJECTIVE: To evaluate the role of teledermatology in primary care system. METHODS: A prospective analysis included 60 patients seen in a primary care unit. All patients were seen by a dermatologist as regular outpatient dermatology consultation. A medical student obtained digital images and a brief clinical history of all patients. Using a Telemedicine system these data were reviewed by two dermatologists for distance diagnosis. Agreement between the diagnoses was assessed. RESULTS: Good agreement, ranging from 86.6% to 91.6%, was achieved between direct observation and teleconsultation. Good agreement was also achieved between two telemedicine diagnosis (Kappa = 0.62). CONCLUSION: Teledermatology is a form of care with great potential for use in dermatology, and could represent a useful tool in cases of low complexity from primary health units.