ABSTRACT
ABSTRACT: Introduction: According to the world health organization, injuries represent more than 20% of health problems in the world. Head trauma and the absence of neurosurgery and radiology services in less populated areas make it difficult to assess and manage patients with brain injury. Objective: To describe the clinical findings and benefits derived from the implementation of teleradiology in neurotrauma in areas of difficult geographic access. Materials and methods: A systematic search was carried out in Pubmed, Scopus, Ebsco host, Sciencedirect, and Embase, with the thesauri "Teleradiology" and "Craniocerebral Trauma". Results: The decision to intervene in a patient with brain trauma and the period of time until surgery are essential for the clinical outcome. Those centers that use teleradiology require transfers to specialized hospitals, for which portable technological devices contribute to the response time of neurosurgery care. Conclusion: Teleradiology has a positive impact on patients with traumatic brain injury in geographical areas of difficult access, facilitating communication with specialists; providing timely care and optimizing transfers to high complexity centers.
RESUMEN: Introducción: Según la organización mundial de la saludlos traumatismos representan más del 20% de los pro-blemas en salud en el mundo. El trauma craneoencefálico y la ausencia de servicios de neurocirugía y radiología en zonas menos pobladas dificultan la valoración y manejo de pacientes con lesión cerebral. Objetivo: Describir los hallazgos clínicos y beneficios derivados de la implementación de la telerradiología en neurotrauma en áreas de difícil acceso geográfico. Materiales y métodos: Se realizó una búsqueda sistemática en Pubmed, Scopus, Ebsco host, Sciencedirect, y Embase, con los tesauros "Teleradiology" y "Craniocerebral Trauma". Resultados: La decisi-ón de intervenir a un paciente con traumatismo cerebral y el periodo de tiempo hasta la cirugía son fundamentales para el desenlace clínico. Aquellos centros que usan la telerradiología, precisan los traslados a los hospitales espe-cializados, por lo cual los dispositivos tecnológicos portátiles contribuyen en el tiempo de respuesta de la atención en neurocirugía. Conclusión: La telerradiología impacta positivamente en pacientes con trauma craneoencefálico en zonas geográficas de difícil acceso, facilitando la comunicación con especialistas; brindando atención oportuna y optimizando los traslados a centros de alta complejidad. (AU)
Subject(s)
Radiology , Brain Injuries , Teleradiology , Brain Injuries, Traumatic , Craniocerebral TraumaABSTRACT
We report on a Mexican mestizo with a multisystemic syndrome including neurological involvement and a type I serum transferrin isoelectric focusing (Tf IEF) pattern. Diagnosis of PMM2-CDG was obtained by clinical exome sequencing (CES) that revealed compound heterozygous variants in PMM2, the encoding gene for the phosphomannomutase 2 (PMM2). This enzyme catalyzes the conversion of mannose-6-P to mannose-1-P required for the synthesis of GDP-Man and Dol-P-Man, donor substrates for glycosylation reactions. The identified variants were c.422G>A (R141H) and c.178G>T, the former being the most frequent PMM2 pathogenic mutation and the latter a previously uncharacterized variant restricted to the Latino population with conflicting interpretations of pathogenicity and that we here report causes leaky non-functional alternative splicing (p.V60Cfs*3).
ABSTRACT
Congenital Disorders of Glycosylation (CDG) are scarcely reported from Latin America. We here report on a Mexican mestizo with a multi-systemic syndrome including neurological involvement and a type I transferrin (Tf) isoelectric focusing (IEF) pattern. Clinical exome sequencing (CES) showed known compound missense variants in PMM2 c.422Gâ¯>â¯A (p.R141H) and c.395â¯Tâ¯>â¯C (p.I132T), coding for the phosphomanomutase 2 (PMM2). PMM2 catalyzes the conversion of mannose-6-P to mannose-1-P required for the synthesis of GDP-Man and Dol-P-Man, donor substrates for glycosylation reactions. This is the third reported Mexican CDG patient and the first with PMM2-CDG. PMM2 has been recently identified as one of the top 10 genes carrying pathogenic variants in a Mexican population cohort.
ABSTRACT
Abstract Introduction Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder affecting approximately 5% of the world population, with symptoms that may persist into adulthood. Despite the findings on the clinical course of this disorder, information regarding comorbidity patterns, psychosocial and executive functioning in adult life in those with and without ADHD in Latin American samples is scarce. Objective The aim of this study is to compare the comorbidity pattern, psychosocial, and executive functioning of adults with and without ADHD from a clinical sample. Method One hundred and fifty-one patients between 20 and 45 years, with screened positively on ASRS-V1.1, were invited to continue an evaluation process as part of clinical research program (PROMETEO): 1) K-SADS-PL Mx interview, 2) MINI-Plus interview, ASRS-V1-1 18 item version, BRIEF self-reported questionnaire, SCQA-ADHD, and 3) Individual case review by clinical expert in ADHD. Results Individuals in the ADHD group had a higher average of comorbid disorders (2.5 SD 1.1 vs. 1.3 SD 1.0 respectively, F = .439; t = -6.621; df = 149; p < .001), more likelihood of procrastinating (OR = 6.5; 95% CI[2.6, 16.2]; z = 4.0) and were more likely to present difficulties in both the behavior regulation index (OR = 104.9; 95% CI[31.8, 345.7]; z = 7.65) and the metacognitive index (OR = 94.79; 95% CI[29.10, 308.76]; z = 7.56) compared to the non-ADHD group, regardless of gender. Discussion and conclusions Our results indicate that the ADHD adult group presented with more comorbidity, and worse psychosocial and executive functioning than non-ADHD adults.
Resumen Introducción El trastorno por déficit de atención con hiperactividad (TDAH) es un trastorno del neurodesarrollo que afecta aproximadamente al 5% de la población mundial, persistiendo hasta la adultez. A pesar de los hallazgos acerca del curso clínico de este trastorno, la información es escasa con respecto a los patrones de comorbilidad, funcionamiento psicosocial y ejecutivo en la vida adulta entre aquellos con y sin TDAH en muestras latinoamericanas. Objetivo Comparar el patrón de comorbilidad, el funcionamiento psicosocial y ejecutivo de adultos con y sin TDAH de una muestra clínica. Método Ciento cincuenta y un pacientes entre 20 y 45 años, quienes inicialmente presentaron un tamizaje positivo del ASRS-V1.1, fueron evaluados dentro de un programa de investigación clínica (PROMETEO) con los siguientes instrumentos: 1) la entrevista K-SADS-PL-Mx, 2) la entrevista MINI-Plus, la version de 18 items del ASRS-V1-1, y los cuestionarios autoaplicados BRIEF y SCQA-ADHD y 3) Revisión de cada caso por un clínico experto en el diagnóstico de TDAH. Resultados El grupo de TDAH comparado con aquel sin TDAH presentó un mayor promedio de trastornos comórbidos (2.5 DE 1.1 vs 1.3 DE 1.0 respectivamente, F = .439; t = -6.621; gl = 149; p < .001), mayor probabilidad de procrastinar (OR = 6.5; 95% IC[2.6, 16.2]; z = 4.0), y mayor probabilidad de presentar dificultades tanto en el índice de regulación de la conducta (OR = 104.9; 95% IC[31.8, 345.7]; z = 7.65) como en el índice metacognitivo (OR = 94.79; 95% IC[29.10, 308.76]; z = 7.56) independientemente del sexo. Discusión y conclusión Nuestros resultados señalan que los adultos con TDAH presentan mayor comorbilidad y peor funcionamiento psicosocial y ejecutivo que los adultos sin TDAH.
ABSTRACT
Rotavirus (RV) is the primary etiologic agent of severe gastroenteritis in human infants. Although two attenuated RV-based vaccines have been licensed to be applied worldwide, they are not so effective in low-income countries, and the induced protection mechanisms have not been clearly established. Thus, it is important to develop new generation vaccines that induce long lasting heterotypic immunity. VP6 constitutes the middle layer protein of the RV virion. It is the most conserved protein and it is the target of protective T-cells; therefore, it is a potential candidate antigen for a new generation vaccine against the RV infection. We determined whether targeting the DEC-205 present in dendritic cells (DCs) with RV VP6 could induce protection at the intestinal level. VP6 was cross-linked to a monoclonal antibody (mAb) against murine DEC-205 (αDEC-205:VP6), and BALB/c mice were inoculated subcutaneously (s.c.) twice with the conjugated containing 1.5 µg of VP6 in the presence of polyinosinic-polycytidylic acid (Poly I:C) as adjuvant. As controls and following the same protocol, mice were immunized with ovalbumin (OVA) cross-linked to the mAb anti-DEC-205 (αDEC-205:OVA), VP6 cross-linked to a control isotype mAb (Isotype:VP6), 3 µg of VP6 alone, Poly I:C or PBS. Two weeks after the last inoculation, mice were orally challenged with a murine RV. Mice immunized with α-DEC-205:VP6 and VP6 alone presented similar levels of serum Abs to VP6 previous to the virus challenge. However, after the virus challenge, only α-DEC-205:VP6 induced up to a 45% IgA-independent protection. Memory T-helper (Th) cells from the spleen and the mesenteric lymph node (MLN) showed a Th1-type response upon antigen stimulation in vitro. These results show that when VP6 is administered parenterally targeting DEC-205, it can induce protection at the intestinal level at a very low dose, and this protection may be Th1-type cell dependent.
Subject(s)
Antigens, CD/genetics , Antigens, CD/immunology , Antigens, Viral/genetics , Antigens, Viral/immunology , Capsid Proteins/genetics , Capsid Proteins/immunology , Lectins, C-Type/genetics , Lectins, C-Type/immunology , Receptors, Cell Surface/genetics , Receptors, Cell Surface/immunology , Rotavirus Infections/prevention & control , Rotavirus Vaccines/administration & dosage , Rotavirus Vaccines/immunology , Rotavirus/immunology , Adjuvants, Immunologic , Animals , Antibodies, Viral/blood , CD4-Positive T-Lymphocytes/immunology , Cytokines/immunology , Dendritic Cells/immunology , Escherichia coli Proteins/immunology , Female , Humans , Immunologic Memory , Mice, Inbred BALB C , Minor Histocompatibility Antigens , Poly I-C/administration & dosage , Poly I-C/immunology , Rotavirus/pathogenicity , Rotavirus Infections/immunology , Rotavirus Infections/virology , Th1 Cells/immunology , Virus SheddingABSTRACT
In this work, we report an alternative assay for the determination of the inhibitory effect on monoamine oxidase B (MAO-B) activity of probe compounds. Enzyme MAO-B exhibits fluorescence emissions when it is excited at 412 nm. Using an inexpensive blue LED-like excitation source, we measured the quenching of fluorescence intensity of MAO-B enzyme during the reaction with inhibitors. The applicability of the procedure is demonstrated by assays with l-deprenyl and berberine as inhibitors through the use of fluorescence studies. The IC(50) values of l-deprenyl and berberine were 0.04 and 90 microM, respectively. The K(I) values were 0.020 and 47 microM for l-deprenyl and berberine, respectively. These IC(50) and K(I) values were similar to the values obtained with a standard method. These results demonstrate the feasibility of this method as an alternative to follow the inhibitory effect on MAO-B.
Subject(s)
Monoamine Oxidase/metabolism , Spectrometry, Fluorescence/methods , Animals , Benzylamines/chemistry , Berberine/chemistry , Berberine/pharmacology , Dose-Response Relationship, Drug , Kinetics , Light , Mice , Mitochondria, Liver/drug effects , Mitochondria, Liver/metabolism , Monoamine Oxidase Inhibitors/metabolism , Selegiline/chemistry , Selegiline/pharmacologyABSTRACT
Se estudian 28 casos de exotropia evaluandose el tipo de exotropia de acuerdo a la clasificacion de Duane. Se discute el tratamiento seguido a estos pacientes de acuerdo a la edad, realizando tratamiento medico a los menores de seis anos, y tratamiento quirurgico por encima de esta edad. Los resultados son halagadores en los dos grupos de pacientes. Se comproba que los pacientes quirurgicos que tienen mayor probabilidad de curacion, son aquellos que quedan hipercorregidos en el post-operatorio inmediato
Subject(s)
Pregnancy , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Humans , Male , Female , Exotropia , Contact Lenses , Eye/surgeryABSTRACT
Se estudian 1.025 casos de la consulta de Oftalmologia del Centro Medico del IVSS de La Victoria, en edades comprendidas entre 6 meses y 14 anos, tomando como criterio de ambliopatia, una A.V. corregida de 20/ 30 y como parametros de estudio: A.V., Biomicroscopia, Motilidad Ocular, fondo de ojo, etc. El porcentaje de ambliopia obtenido fue de 10 por ciento en la poblacion estudiada. Ser hace enfasis que en una sociedad desarrollada, la ambliopia funcional, debe ser reducida al minimo, pues un diagnostico precoz, significa profilaxis de un dano, que con el tiempo se torna irreparable y cuya proyeccion social es incalculable
