A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment.

Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these two entities is appropriate, as they represent clinical expression of different disorders with a different approach in clinical work-up, overall prognosis, and treatment. Megalencephaly defines an increased growth of cerebral structures related to dysfunctional anomalies during the various steps of brain development in the neuronal proliferation and/or migration phases or as a consequence of postnatal abnormal events. The disorders associated with megalencephaly are classically defined into 3 groups: idiopathic or benign, metabolic, and anatomic. In this article, we seek to underline the clinical aspect of megalencephaly, emphasizing the main disorders that manifest with this anomaly in an attempt to properly categorize these disorders within the megalencephaly group

Congenital muscular dystrophy: from muscle to brain.

Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder.Recent classification of CMDs have been reported most of which based on the combination of clinical, biochemical, molecular and genetic findings, but genotype/phenotype correlation are in constant progression due to more diffuse utilization of the molecular analysis.In this article, the Authors report on CMDs belonging to the group of dystroglycanopathies and in particular on the most severe forms represented by the Fukuyama CMD, Muscle-Eye-Brain disease and Walker Walburg syndrome.Clinical diagnosis of infantile hypotonia is particularly difficult considering the different etiologic factors causing the lesions, the difficulty in localizing the involved CNS area (central vs. peripheral) and the limited role of the diagnostic procedures at this early age.The diagnostic evaluation is not easy mainly in differentiating the various types of CMDs, and represents a challenge for the neonatologists and pediatricians. Suggestions are reported on the way to reach a correct diagnosis with the appropriate use of the diagnostic means

Contamos con vos, contá con nosotres

Acompañar es transitar; es conocernos; es compartir, con aciertos y errores, con limitaciones y potencialidades. En esa experiencia, la transformación es dual, tanto del que acompaña como del que es acompañado. Acompañar entre pares es proponer una salida colectiva, soluciones articuladas y solidarias, en vez de un esquema de competencia constante e individualizado.Este trabajo forma parte de la revista: Cuadernos de Coyuntura, número 5, editada por la Facultad de Ciencias Sociales de la Universidad Nacional de Córdoba, fue publicado el 23 de junio de 2021. Se encuentra dedicado a los: “Jóvenes. Pensar y sentir la pandemia”. Los trabajos han sido escritos por estudiantes de grado y las presentaciones por docentes de la misma Facultad. Es un espacio que nos permite escuchar las voces y los sentires de los jóvenes, en este particular momento que vive la sociedad toda. NDLR. Enlace al Portal de Revistas de la Universidad Nacional de Córdoba https://revistas.unc.edu.ar/index.php/CuadernosConyuntura/issue/view/2316publishedVersionFil: Parano, Matías. Universidad Nacional de Córdoba. Facultad de Ciencias Sociales; Argentina

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia-focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreover, the child exhibited minor facial features, epileptic seizures, and notable behavioral abnormalities including impulsivity, aggressivity, and hyperactivity suggestive of the diagnosis of disruptive, impulse-control and conduct disorder (CD). Array comparative genomic hybridization (CGH) revealed a copy number variant (CNV) deletion in the first intron of CNTNAP2 gene inherited from a healthy father. Conclusions: A comprehensive description of the phenotypic features of the child is provided, revealing a distinct and remarkable alteration of social behavior not previously reported in individuals affected by disorders related to CNTNAP2 gene disruptions. A possible causative link between the deletion of a non-coding regulatory region and the symptoms presented by the boy has been advanced

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy

Background: Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1-BP6) are mapped to the 15q13 region and three further embedded BP regions (BP3-BP5). The deletion at BP4-BP5 is the rearrangement most frequently observed compared to other known deletions in BP3-BP5 and BP3-BP4 regions. Deletions of each of these three regions have previously been implicated in a variable range of clinical phenotypes, including minor dysmorphism, developmental delay/intellectual disability, epilepsy, autism spectrum disorders, behavioral disturbances, and speech disorders. Of note, no overt clinical difference among each group of BP region deletions has been recorded so far. Methods: We report on a four-member family plus an additional unrelated boy affected by a BP3-BP5 deletion that presented with typical clinical signs including speech delay and language impairment. A review of the clinical features associated with the three main groups of BP regions (BP4-BP5, BP3-BP5, and BP3-BP4) deletions is reported. Results: Array-CGH analysis revealed in the mother (case 1) and in her three children (cases 2, 3, and 4), as well as in the unrelated boy (case 5), the following rearrangement: arr (hg19) 15q13.1-q13.3 (29.213.402-32.510.863) x1. Conclusion: This report, along with other recent observations, suggests the hypothesis that the BP region comprised between BP3 and BP5 in chromosome 15q13 is involved in several brain human dysfunctions, including impairment of the language development and, its deletion, may be directly or indirectly responsible for the speech delay and language deficit in the affected individuals

Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment

The 15q13.3 microdeletion (microdel15q13.3) syndrome (OMIM 612001) has been reported in healthy subjects as well as in individuals with a wide spectrum of clinical manifestations ranging from mild to severe neurological disorders, including developmental delay/intellectual disability, autism spectrum disorder, schizophrenia, epilepsy, behavioral problems and speech dysfunction. This study explored the link between this genomic rearrangement and nocturnal frontal lobe epilepsy (NFLE), which could improve the clinical interpretation. A clinical and genomic investigation was carried out on an 8-year-girl with a de novo deletion flanking the breakpoints (BPs) 4 and 5 of 15q13.3 detected by array comparative genomic hybridization analysis, affected by NFLE, migraine with aura, minor facial features, mild cognitive and language impairment, and circumscribed hypertrichosis. Literature survey of clinical studies was included. Nine years follow-up have displayed a benign course of the epileptic disorder with a progressive reduction and disappearance of the epileptic seizures, mild improvement of cognitive and language skills, partial cutaneous hypertrichosis regression, but stable ongoing of migraine episodes. A likely relationship between the BP4-BP5 deletion and NFLE with other symptoms presented by the girl is discussed together with a review of the literature on phenotypic features in microdel15q13.3

Epidemiology of childhood Guillan-Barre syndrome in the north west of Iran

<p>Abstract</p> <p>Background and aims</p> <p>This study was carried out to investigate the incidence, annual time trend and some epidemiological and clinical features of Guillain-Barre syndrome in children in the north west of Iran.</p> <p>Materials and methods</p> <p>In this population-based cross sectional research, epidemiological and clinical features of 143 cases with Guillain-Barre syndrome between 2001 and 2006 were studied. The setting of the study was Tabriz Children Medical Centre, the major University-Hospital located in Tabriz city of the East Azarbaijan province covering whole region. Data collected included age, gender, chronological information, preceding events, functional grade of motor deficit.</p> <p>Results</p> <p>The mean age (standard deviation) of subjects was 5.4 (3.6) years. The male/female ratio was 1.3. The average annual incidence rate was 2.27 per 100 000 population of 15 years children (CI95%: 1.9–2.6). The majority of cases occurred in March, July and November and the highest proportion of the syndrome was observed in winter (29 percent, P > 0.10).</p> <p>Conclusion</p> <p>The results indicated that an unexpected high incidence of Guillain-Barre syndrome has occurred in 2003 in the region. We concluded that a monitoring and surveillance system for Guillain-Barre syndrome is essential to set up in this region.</p

Paradigmas de modernización e innovación en la Municipalidad de Córdoba : Un análisis comparado entre la gestión Mestre (2015-2019) y Llaryora (2019-2023)

Trabajo Final para optar al Grado Académico de Licenciado en Ciencia Políticas, Universidad Nacional de Córdoba, 2023.Fil:Parano, Matías. Universidad Nacional de Córdoba. Facultad de Ciencias Sociales. Licenciatura en Ciencias Políticas; Argentina.El trabajo se propuso analizar de forma comparada las políticas de modernización e innovación de la administración pública en la Municipalidad de Córdoba llevadas adelante por la segunda gestión municipal de Ramón J. Mestre (2015-2019) y la de Martín Llaryora (2019-2023). Ambas gestiones impulsaron una agenda con el eje puesto en la innovación pública y reconfiguración del Estado local en materia de digitalización, apertura, transparencia y participación. Mediante un diseño y abordaje metodológico cualitativo se recopiló información documental de base para construir el mapa de actores e informantes claves, sobre los cuales se aplicaron entrevistas semi-estructuradas en torno a los interrogantes planteados en los objetivos específicos y las dimensiones teóricas construidas. Tales entrevistas se realizaron considerando a las burocracias estables, cuadros técnicos, funcionarios y responsables políticos del municipio, con especial énfasis en el área específica referida a la modernización e innovación en cada una de las gestiones mencionadas. Para dar cuenta de las continuidades y rupturas, de las similitudes y diferencias, se contemplaron los paradigmas de gestión pública prevalentes en la arena nacional e internacional, así como la subnacional (local y provincial). El supuesto subyacente es que estos se encuentran en pugna por ofrecer soluciones y respuestas a los problemas públicos, redefiniendo el rol del Estado y su vinculación con la sociedad civil. En esta disputa, y como segundo supuesto, los diferentes agregados territoriales y las relaciones intergubernamentales (RIG) resultan nodales para entender la cooperación y el conflicto en materia de administración pública.2025-03-31Fil:Parano, Matías. Universidad Nacional de Córdoba. Facultad de Ciencias Sociales. Licenciatura en Ciencias Políticas; Argentina

Modernización e innovación en la Municipalidad de Córdoba: un análisis comunicacional de la administración pública

Trabajo Final para optar al grado académico de Licenciatura en Comunicación Social, Universidad Nacional de Córdoba Orientación Institucional Calificación 10 (Diez)Fil: Parano, Matías. Universidad Nacional de Córdoba. Facultad de Ciencias de la Comunicación; Argentina.Identificar y analizar las características, significantes privilegiados y estrategias comunicacionales de las visiones/perspectivas de modernización e innovación de la administración pública en el gobierno municipal de la ciudad de Córdoba llevadas adelante durante las gestiones de Ramón Mestre (2015-2019) y la de Martín Llaryora (2019-2023).Fil: Parano, Matías. Universidad Nacional de Córdoba. Facultad de Ciencias de la Comunicación; Argentina