Late-Onset 22q11.2 Deletion Syndrome With Mild Cardiac Phenotype: A Unique Adult Presentation Diagnosed at 45 Years of Age.

This case report presents a detailed exploration of an adult-onset 22q11 deletion syndrome, a rare genetic disorder typically diagnosed in children. The report highlights the diagnostic challenges posed by this atypical presentation, emphasizing the need for clinicians to consider such conditions in differential diagnoses, especially in adults. This case is remarkable for its late onset and mild symptoms, which significantly deviated from the common pediatric presentation, including hypocalcemia due to hypoparathyroidism and a fenestrated atrial septal defect without significant hemodynamic implications. The importance of recognizing the broad phenotypic variability of the syndrome and the implications for clinical practice are discussed, providing insights into the genetic and phenotypic diversity of the condition. In conclusion, this case illuminates the diverse clinical spectrum of adult-onset 22q11 deletion syndrome, emphasizing its relevance to clinical practice.

[MicroRNAs and their neuroimmunoregulator mechanisms in multiple sclerosis. Development of biomarkers for diagnosis]. / MicroARN y sus mecanismos neuroinmunorreguladores en la esclerosis multiple. Desarrollo de biomarcadores para su diagnostico.

INTRODUCTION: MicroRNAs (miRNAs) are molecules that in the last decade have gained increased attention a key mediator of the process of gene silencing in mammals. Deregulation of miRNAs is linked to illnesses such as cancer, and autoimmunity. Different reports claim for these molecules pivotal roles in both neuronal and immune processes, as well as in prediction of diseases affecting both systems. Multiple sclerosis (MS) is an example of an illness affecting myelin of axons, caused by autoimmune deregulation. AIM: To show the close relationship of the functions of miRNAs and their deregulation processes related to the immune and brain mechanisms in MS. In addition, we illustrate the use of miRNAs a potential noninvasive diagnostics for the assessment of the health status of a patient with MS. DEVELOPMENT: In the scientific literature, there has been a widely identified role of miRNAs as modulators. However, little is known about the role that these molecules perform together with glial cells in neuronal plasticity and de/re- myelination processes. In spite of the acknowledged role played by miRNAs in all function, little has been investigated on their potential. An overview is presented here in the research, development and implementation o diagnostic techniques relating miRNA and MS. CONCLUSIONS: There is strong evidence of the role of miRNA and homeostatic processes of brain's white matter in MS. In a field study to exploit and can aid in early diagnosis and also in the development of therapies based on the use of miRNAs.

TITLE: MicroARN y sus mecanismos neuroinmunorreguladores en la esclerosis multiple. Desarrollo de biomarcadores para su diagnostico.Introduccion. Los microARN (miARN) son moleculas que han generado gran atencion como reguladores de procesos de silenciamiento genico en diferentes organismos. La desregulacion de los mecanismos efectuados por estas moleculas se vincula al desarrollo y progresion de los trastornos relacionados con el sistema inmune. Diferentes estudios exponen que los miARN desempeñan un papel fundamental en procesos neuronales e inmunes, y se relacionan con los mecanismos de las enfermedades que afectan ambos sistemas. La esclerosis multiple (EM) es una enfermedad neurodegenerativa debida a la desmielinizacion axonal causada por procesos autoinmunes. Objetivo. Mostrar la estrecha relacion de las funciones regulatorias de los miARN en vias de señalizacion neuroinmunologicas en el desarrollo de la EM, asi como su estudio como biomarcadores diagnosticos para su uso en pacientes. Desarrollo. En la literatura cientifica se ha estudiado y establecido el papel de los miARN como moduladores de los procesos celulares. Sin embargo, poco se ha abordado sobre su funcionalidad en las celulas gliales dentro de los procesos de plasticidad neuronal, regulacion de la desmielinizacion y reconstitucion axonal, por lo que su revision constituye el proposito de este escrito. Ademas, algunos miARN previamente evaluados se describen para su enfoque diagnostico para la deteccion, curso y tratamiento de la EM, y se encuentran en investigacion o implementacion. Conclusiones. Existe una fuerte evidencia del papel que realizan los miARN en los mecanismos homeostaticos axonales durante la evolucion de la EM. Esto representa un area de estudio para explorar el uso de estas moleculas para la comprension de esta enfermedad, su diagnostico oportuno y la evolucion en los pacientes.

MicroARN y sus mecanismos neuroinmunorreguladores en la esclerosis múltiple. Desarrollo de biomarcadores para su diagnóstico / MicroRNAs and their neuroimmunoregulator mechanisms in multiple sclerosis. Development of biomarkers for diagnosis

Introducción. Los microARN (miARN) son moléculas que han generado gran atención como reguladores de procesos de silenciamiento génico en diferentes organismos. La desregulación de los mecanismos efectuados por estas moléculas se vincula al desarrollo y progresión de los trastornos relacionados con el sistema inmune. Diferentes estudios exponen que los miARN desempeñan un papel fundamental en procesos neuronales e inmunes, y se relacionan con los mecanismos de las enfermedades que afectan ambos sistemas. La esclerosis múltiple (EM) es una enfermedad neurodegenerativa debida a la desmielinización axonal causada por procesos autoinmunes. Objetivo. Mostrar la estrecha relación de las funciones regulatorias de los miARN en vías de señalización neuroinmunoló- gicas en el desarrollo de la EM, así como su estudio como biomarcadores diagnósticos para su uso en pacientes. Desarrollo. En la literatura científica se ha estudiado y establecido el papel de los miARN como moduladores de los procesos celulares. Sin embargo, poco se ha abordado sobre su funcionalidad en las células gliales dentro de los procesos de plasticidad neuronal, regulación de la desmielinización y reconstitución axonal, por lo que su revisión constituye el propó- sito de este escrito. Además, algunos miARN previamente evaluados se describen para su enfoque diagnóstico para la detección, curso y tratamiento de la EM, y se encuentran en investigación o implementación. Conclusiones. Existe una fuerte evidencia del papel que realizan los miARN en los mecanismos homeostáticos axonales durante la evolución de la EM. Esto representa un área de estudio para explorar el uso de estas moléculas para la comprensión de esta enfermedad, su diagnóstico oportuno y la evolución en los pacientes (AU)

Introduction. MicroRNAs (miRNAs) are molecules that in the last decade have gained increased attention a key mediator of the process of gene silencing in mammals. Deregulation of miRNAs is linked to illnesses such as cancer, and autoimmunity. Different reports claim for these molecules pivotal roles in both neuronal and immune processes, as well as in prediction of diseases affecting both systems. Multiple sclerosis (MS) is an example of an illness affecting myelin of axons, caused by autoimmune deregulation. Aim. To show the close relationship of the functions of miRNAs and their deregulation processes related to the immune and brain mechanisms in MS. In addition, we illustrate the use of miRNAs a potential noninvasive diagnostics for the assessment of the health status of a patient with MS. Development. In the scientific literature, there has been a widely identified role of miRNAs as modulators. However, little is known about the role that these molecules perform together with glial cells in neuronal plasticity and de/re- myelination processes. In spite of the acknowledged role played by miRNAs in all function, little has been investigated on their potential. An overview is presented here in the research, development and implementation o diagnostic techniques relating miRNA and MS. Conclusions. There is strong evidence of the role of miRNA and homeostatic processes of brain’s white matter in MS. In a field study to exploit and can aid in early diagnosis and also in the development of therapies based on the use of miRNAs (AU)

Severe consequences of carbamazepine exposure in utero.

The 'foetal carbamazepine syndrome' is characterised by facial dysmorphism associated to cardiovascular, nervous system, urinary tract and skeletal anomalies. The authors present the case of a neonate born to a 33-year-old epileptic woman treated with long term carbamazepine (CMZ) therapy. Four of her pregnancies exposed to the drug showed bad outcomes. The actual pregnancy ended by caesarean section, a female was born showing facial dysmorphism, hypoplasic nails, xyphosis and myelomeningocele. After 7 days of birth, the infant developed severe neutropenia, moderate pulmonary hypertension, multiple organ failure and died. The karyotype was 46, XX. This case represents an example of the wide spectrum of the syndrome and contributes to describe the clinical profile of the 'foetal carbamazepine syndrome'. The delineation of the foetal carbamazepine syndrome's phenotype remains incomplete, since many of the clinical manifestations are shared with the effect of others anticonvulsants, therefore further studies are needed to determine the specific noxious effects of CMZ in utero.