Mecanismos moleculares de la esquizofrenia / Molecular mechanisms of schizophrenia / Mecanismos moleculares da esquizofrenia

La etiología de la esquizofrenia no está totalmente dilucidada. Se conocen más de 100 diferentes loci de genes relacionados con esquizofrenia, la mayoría de los cuales codifican moléculas asociados a los sistemas de neurotransmisores o al neurodesarrollo. Las primeras abarcan receptores de los neurotransmisores como dopamina, GABA o glutamato y de otros neurotransmisores con menor relación, como la serotonina y la acetilcolina. También están implicadas diversas enzimas relacionadas con el metabolismo, cotransportadores y algunas proteínas intracelulares involucradas en la degradación o síntesis de dichos neurotransmisores. Entre las moléculas que intervienen en el neurodesarrollo están los factores neurotróficos (BDNF, DISC1, NRG1) y las proteínas del complemento C3 y C4, que median la respuesta inflamatoria y la poda sináptica durante el desarrollo temprano. Los productos de la producción genética involucrados en la etiología de la esquizofrenia aportan a la vulnerabilidad selectiva o al proceso de lesión que se instaura o progresa en el paciente, por tanto, su estudio es de relevancia para la comprensión de los fenómenos clínicos propios de la enfermedad.

The etiology of schizophrenia is not fully elucidated. More than 100 different gene loci related to schizophrenia are known, most of which encode molecules associated with neurotransmitter systems or neurodevelopment. These include receptors for neurotransmitters such as dopamine, GABA, or glutamate, as well as other neurotransmitters with less direct relevance, such as serotonin and acetylcholine. Various enzymes involved in metabolism, cotransporters, and intracellular proteins involved in the degradation or synthesis of said neurotransmitters are also implicated. Among the molecules involved in neurodevelopment are neurotrophic factors (BDNF, DISC1, NRG1) and complement proteins C3 and C4, which mediate the inflammatory response and synaptic pruning during early development. The genetic products involved in the etiology of schizophrenia contribute to selective vulnerability or the process of injury that is established or progresses in the patient. Therefore, their study is relevant to the understanding of the clinical phenomena associated with the disease.

A etiologia da esquizofrenia não está totalmente elucidada. Mais de 100 diferentes loci de genes relacionados à esquizofrenia são conhecidos, a maioria dos quais codifica moléculas associadas a sistemas de neurotransmissores ou neurodesenvolvimento. O primeiro inclui receptores para neurotransmissores como dopamina, GABA ou glutamato e outros neurotransmissores menos relacionados, como serotonina e acetilcolina. Também estão envolvidas várias enzimas relacionadas com o metabolismo, cotransportadores e algumas proteínas intracelulares envolvidas na degradação ou síntese dos referidos neurotransmissores. Entre as moléculas envolvidas no neurodesenvolvimento estão os fatores neurotróficos (BDNF, DISC1, NRG1) e as proteínas do complemento C3 e C4, que medeiam a resposta inflamatória e a poda sináptica durante o desenvolvimento inicial. Os produtos da produção genética envolvidos na etiologia da esquizofrenia contribuem para a vulnerabilidade seletiva ou para o processo de lesão que se instala ou progride no paciente, portanto, seu estudo é relevante para a compreensão dos fenômenos clínicos da esquizofrenia

Prevalence of genetic mutations in alpha-1 antitrypsin deficiency (aatd) in patients with chronic obstructive pulmonary disease in Colombia.

BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is an underrecognized genetic disorder associated mainly with pulmonary emphysema and Chronic Obstructive Pulmonary Disease (COPD). All individuals with COPD regardless of age or ethnicity should be tested for AATD, but in Colombia its prevalence in unknown. MAIN OBJECTIVE: To determine the prevalence of the genetic mutations, present in AATD in adult patients with COPD in Colombia, using a genotyping test on cells from the oral mucosa. METHODS: This was a multicentre, observational, cross-sectional study which included adult patients attending seven COPD care centres in Colombia. Demographic data, medical history, including history of exposure to smoking and biomass smoke, most recent spirometry, pharmacological and non-pharmacological treatment received, serum AAT levels, and mutations detected by the genotyping test were recorded for all the recruited patients. For the comparison of variables between the groups with and without mutation, we used the X2 test for the qualitative variables and the Student's t-test or Mann-Whitney U test according to their distribution. MAIN FINDINGS: We collected a sample of 1,107 patients, the median age was 73.8 years (87.6-79.9). Mutations were documented in 144 patients (13.01%), the majority had the M/S mutation (78.50%), followed by M/Z (9.72%). One patient had a ZZ mutation and two patients had null alleles. In total, 23 patients had mutations associated with serum AAT deficiency (levels below 60 mg/dl). CONCLUSIONS: Genetic mutations were documented in 13.01% of patients with COPD in Colombia and 2.07% were AATD-related, showing that there is a significant number of underdiagnosed patients.

Persistencia de la vena cava superior izquierda: Presentación de un caso / Persistent Left Superior Vena Cava: Case Report

La vena cava superior izquierda persistente es una variante anatómica poco común, pero su conocimiento por parte de los médicos es importante para algunos procedimientos, como inserción de catéteres, entre otros. Se ha descrito desde 1950 y se asocia con anomalías cardiacas. Esta estructura venosa tiene varios sitios donde drenar los cuales se deben conocer. Casi siempre es un hallazgo incidental, pero se ha asociado a accidente cerebrovascular y muerte. Para su diagnóstico se han utilizado varias modalidades de imagen, como ecocardiografía, tomografía computarizada (TC) y resonancia magnética (RM).

Persistent left superior vena cava is a rare anatomical variant, which should be known by physicians, since it is relevant for some procedures such as insertion of catheters and pacemakers. Described in the literature since 1950, it has been associated with several cardiac anomalies. This venous structure drains towards several places, which must be known. Although most of the time it is an incidental finding, it has been associated with stroke and death. Imaging modalities such as CT, MRI and echocardiography are helpful for its diagnosis.

Caracterización del perfil cognitivo y funcional motor en pacientes con síndrome doloroso regional complejo y dolor neuropático: serie de casos / Cognitive profile characterization and functional motor in patients with complex regional syndrome painful and nerve pain: case series

El dolor es una experiencia sensorial y emocional desagradable, asociada a daño tisular, real o potencial. Dos causas de dolor neurológico son el Síndrome Doloroso Regional Complejo -SDRC- y dolor neuropático -DNP-. El dolor afecta la función cognitiva y el funcionamiento motor. Es objetivo describir el perfil cognitivo y funcional motor en pacientes con SDRC y DNP. Estudio descriptivo en seis pacientes, tres con SDRC y tres con DNP. Evaluación neuropsicológica y perfil de funcionamiento mediante clasificación internacional del funcionamiento. Los pacientes con SDRC y DNP poseen un déficit estructural y fisiológico en las redes centrales y periféricas del dolor, limitación en las funciones de las extremidades comprometidas y restricciones en las actividades y participación de diferente nivel. El dolor como enfermedad crónica afecta la función cognitiva y emocional de quien lo sufre, debido a que diferentes estructuras cerebrales se ven afectadas ante su presencia.

Pain is an unpleasant sensory and emotional experience associated with tissue damage, actual or potential. Two causes of neuropathic pain include Complex Regional Pain Syndrome, CRPS and neuropathic pain-DNP. Pain affects cognitive function and motor functioning. Describing the functional and cognitive profile in patients with CRPS engine and DNP is the objective of this study. Descriptive study in six patients, three of them suffer from CRPS and the other three cope with DNP. Neuropsychological assessment and performance profile by International Classification of Functioning. Discussion: The SDRC and DNP have a structural and physiological deficit in central and peripheral pain networks, limitation in functions of involved limbs, restrictions in the activities, and participation of different levels. As a chronic disease, pain affects cognitive and emotional function of the sufferer, due to different brain structures are affected because its presence.