ABSTRACT
Neurons derived from human induced pluripotent stem cells (hiPSC-derived neurons) offer novel opportunities for the development of preclinical models of human neurodegenerative diseases (NDDs). Recent advances in the past few years have increased substantially the potential of these techniques and have uncovered new challenges that the field is facing. Here, we outline and discuss challenges related to the functional characterization of hiPSC-derived neurons and propose ways to overcome current difficulties. In particular, the enormous variability among studies in the electrical properties of hiPSC-derived neurons and broad differences in cell maturation are factors that impair reproducibility. Furthermore, we discuss how the use of 3D brain organoids are of help in resolving some difficulties posed by 2D cultures. Finally, we elaborate on recent and future advances that may help to overcome the discussed challenges and speed-up progress in the field.
ABSTRACT
Attention deficit disorder and hyperactivity (ADHD) is the main reason for consultation in most Pediatric Neurology units in Spain. The new technologies also associate benefits for both patients and professionals and the health system itself, which makes its rational implementation essential. Genetics, neuroimaging or virtual reality, for example, are clear exponents of the results that can be achieved by optimizing traditional processes. The different technologies that we collect in this article are fully operational and have thousands of experience in patients. The incorporation of them to the usual clinical practice is in our hands.
El trastorno por déficit de atención e hiperactividad (TDAH) es el principal motivo de consulta en la mayoría de las unidades de Neurología Pediátrica en España. Las nuevas tecnologías asocian además beneficios tanto para los pacientes como para los profesionales y el propio sistema sanitario. Se hace imprescindible su implementación racional. La genética, la neuroimagen o la realidad virtual por ejemplo, son claros exponentes de los resultados que se pueden conseguir al optimizar los procesos tradicionales. Las diferentes tecnologías que recogemos en este artículo están completamente operativas y cuentan con miles de pacientes de experiencia. La incorporación de las mismas a la práctica clínica habitual está en nuestras manos.
Subject(s)
Attention Deficit Disorder with Hyperactivity/diagnosis , Attention Deficit Disorder with Hyperactivity/therapy , Biomedical Technology/methods , Biomedical Technology/trends , Humans , Software , Virtual Reality Exposure Therapy/methodsABSTRACT
El trastorno por déficit de atención e hiperactividad (TDAH) es el principal motivo de consulta en la mayoría de las unidades de Neurología Pediátrica en España. Las nuevas tecnologías asocian además beneficios tanto para los pacientes como para los profesionales y el propio sistema sanitario. Se hace imprescindible su implementación racional. La genética, la neuroimagen o la realidad virtual por ejemplo, son claros exponentes de los resultados que se pueden conseguir al optimizar los procesos tradicionales. Las diferentes tecnologías que recogemos en este artículo están completamente operativas y cuentan con miles de pacientes de experiencia. La incorporación de las mismas a la práctica clínica habitual está en nuestras manos.
Attention deficit disorder and hyperactivity (ADHD) is the main reason for consultation in most Pediatric Neurology units in Spain. The new technologies also associate benefits for both patients and professionals and the health system itself, which makes its rational implementation essential. Genetics, neuroimaging or virtual reality, for example, are clear exponents of the results that can be achieved by optimizing traditional processes. The different technologies that we collect in this article are fully operational and have thousands of experience in patients. The incorporation of them to the usual clinical practice is in our hands.
Subject(s)
Humans , Attention Deficit Disorder with Hyperactivity/diagnosis , Attention Deficit Disorder with Hyperactivity/therapy , Biomedical Technology/methods , Software , Biomedical Technology/trends , Virtual Reality Exposure Therapy/methodsABSTRACT
El síndrome de monosomía 1p36 forma parte del grupo de enfermedades conocidas como «enfermedades de baja prevalencia¼ o «enfermedades raras¼. El objetivo del presente trabajo es revisar los hallazgos de los principales estudios realizados en niños diagnosticados con el síndrome de monosomía 1p36. El fenotipo del síndrome de deleción (monosomía) 1p36 delineado desde 1997 incluye rasgos craneofaciales dismórficos: fontanela anterior grande, cejas rectas, ojos hundidos, epicanto, raíz/puente nasal anchos, hipoplasia del tercio medio facial, orejas implantadas anormalmente, filtrum largo y barbilla puntiaguda; alteraciones neurológicas: convulsiones e hidrocefalia (en casos aislados); malformaciones cerebrales observadas en imágenes por resonancia magnética (IRM): ensanchamiento ventricular, ensanchamiento de espacios subaracnoideos, alteraciones morfológicas del cuerpo calloso, entre otras. La IRM evidencia en algunos pacientes atrofia cortical, retraso en la mielinización, áreas multifocales hiperintensas, leucomalacia periventricular y heterotopia periventricular. Estos pacientes cursan con discapacidad intelectual, retrasos en el desarrollo motor, de la comunicación, del lenguaje, en el área personal-social y en la conducta adaptativa. También se observan alteraciones en el sistema auditivo, visual, cardiaco, endocrino, genitourinario, dermatológico y esquelético. Conclusiones: Existen datos de aproximadamente 100 casos en el mundo desde 1981. Esta enfermedad rara es el síndrome más común de microdeleción subtelomérica. La técnica de hibridación in situ con fluorescencia y la técnica de hibridación genómica comparativa (array-CGH) son las que mejor permiten su diagnóstico. Por el momento no existe ningún tratamiento médico efectivo para esta enfermedad.
The Monosomy 1p36 deletion syndrome is part of the group of diseases known as Rare Diseases. The objective of the present work is to review the characteristics of Monosomy 1p36 deletion syndrome. The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: seizures and hydrocephalus (in some cases). Cerebral malformations: ventricular hypertrophy, increased subarachnoid space, morphological alterations of corpus callosum, cortical atrophy, delays in myelinisation, periventricular leukomalacia and periventricular heterotopia. These alterations produce intellectual disability and delays in motor growth, communication skills, language, social and adaptive behaviour. It is Hearing and vision impairments are also observed in subjects with this syndrome, as well as alterations of cardiac, endocrine and urinary systems and alterations at skin and skeletal level. Conclusions: Approximately 100 cases have been documented since 1981. This rare disease is the most common sub-telomeric-micro-deletion syndrome. In situ hybridization with fluorescence (FISH) and array-comparative genomic hybridization (CGH-array) are at present the two best diagnostic techniques. There is currently no effective medical treatment for this disease.
Subject(s)
Humans , In Situ Hybridization, Fluorescence/methods , Chromosome Disorders/physiopathology , Comparative Genomic Hybridization/methods , Chromosomes, Human, Pair 1 , Chromosome Deletion , Chromosome Disorders/diagnosis , Chromosome Disorders/epidemiologyABSTRACT
The Monosomy 1p36 deletion syndrome is part of the group of diseases known as Rare Diseases. The objective of the present work is to review the characteristics of Monosomy 1p36 deletion syndrome. The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: seizures and hydrocephalus (in some cases). Cerebral malformations: ventricular hypertrophy, increased subarachnoid space, morphological alterations of corpus callosum, cortical atrophy, delays in myelinisation, periventricular leukomalacia and periventricular heterotopia. These alterations produce intellectual disability and delays in motor growth, communication skills, language, social and adaptive behaviour. It is Hearing and vision impairments are also observed in subjects with this syndrome, as well as alterations of cardiac, endocrine and urinary systems and alterations at skin and skeletal level. CONCLUSIONS: Approximately 100 cases have been documented since 1981. This rare disease is the most common subtelomeric-micro-deletion syndrome. In situ hybridization with fluorescence (FISH) and array-comparative genomic hybridization (CGH-array) are at present the two best diagnostic techniques. There is currently no effective medical treatment for this disease.
