Twelve-month outcomes of Kahook dual blade goniotomy combined with cataract surgery in Latino patients.

PURPOSE: To evaluate 12 month surgical outcome of Kahook Dual Blade (KDB) goniotomy in combination with cataract surgery in Latino patients with open angle glaucoma (OAG) and ocular hypertension (OHT). METHODS: This retrospective study included 45 eyes of 40 patients who underwent KDB goniotomy combined with cataract extraction from January 2016 to September 2020 at two centers in South America. Primary outcome was surgical success defined as ≥ 20% intraocular pressure (IOP) reduction or ≥ 1 medication reduction from preoperative without additional IOP-lowering procedures and an IOP ≥ 5 mmHg or ≤ 21 mmHg. Additionally, we used 2 cutoffs values for success of IOP ≤ 18 and ≤ 15 mmHg. Secondary outcomes included: IOP, medication use, best corrected visual acuity, complications and failure-associated factors. RESULTS: Success rates at 12 months with cutoff limits of 21, 18 and 15 mmHg were 84.3%, 75.6% and 58.7%, respectively. At 12 months, mean preoperative IOP significantly decreased from 19.23 ± 0.65 mmHg on 2.3 ± 1.0 medications to 14.33 ± 0.66 mmHg on 0.6 ± 0.9 medications (p < 0.001) , with 62% of eyes free of hypotensive medication. Eyes that developed postoperative IOP spikes showed a higher risk for failure using the cutoff limit of IOP ≤ 18 mmHg with a hazard ratio of 3.6 (95% confidence interval [CI], 1.80-7.13; p < 0.001). There were no serious ocular adverse events. CONCLUSIONS: KDB combined with cataract extraction showed safety and efficacy for decreasing IOP in OAG and OHT Latino patients. Additionally, dependence on medications was reduced significantly after surgery.

Vértigo en gestantes: presentación clínica, impacto en la calidad de vida y factores asociados / Vertigo in pregnancy: clinical presentation, impact on quality of life and associated factors

OBJETIVO: Evaluar las características clínicas, el impacto en la calidad de vida y los factores asociados con vértigo en gestantes hospitalizadas en una institución de alta complejidad. MÉTODO: Estudio transversal. Se realizó una encuesta dirigida a la presencia de vértigo y sus características clínicas en 2020-2021. La calidad de vida se evaluó con el cuestionario Dizziness Handicap Inventory (DHI). El análisis estadístico incluyó un modelo lineal generalizado. RESULTADOS: De 103 mujeres, el 19,4% indicaron vértigo principalmente en el segundo trimestre de gestación (60%), con una mediana de 3,5 (rango intercuartil: 1,5-7,5) episodios. Fueron referidos vértigos episódicos asociados con cambios posicionales (40%), acompañados de inestabilidad (60%), cefalea (60%), fotopsias (55%) y tinnitus (45%). Las mujeres con vértigo presentaron mayor frecuencia de discapacidad moderada a grave en las dimensiones del DHI emocional (30 vs. 2,4%; p = 0,001), funcional (40 vs. 2,4%; p < 0,001) y física (55 vs. 2,4%; p < 0,001) en comparación con las mujeres sin la patología. La hospitalización durante el embarazo Razón de proporción (RP): 4,02; intervalo de confianza del 95% [IC95%]: 1,64-9,85; p = 0,002) y la presencia de vértigo pregestacional (RP: 2,37; IC95%: 1,15-4,88; p = 0,019) se identificaron como factores asociados. CONCLUSIONES: La alta frecuencia de vértigo en las gestantes sugiere la importancia de estudiar esta condición durante el embarazo, para lograr un manejo integral y generar acciones de prevención y control efectivas.

OBJECTIVE: To evaluate clinical characteristics, impact on quality of life and factors associated with vertigo in pregnant women hospitalized in a highly complex institution. METHOD: A cross-sectional study was conducted in 2021-2022. One focused survey including Dizziness Handicap Inventory (DHI) was performed. The statistical analysis was performed using a generalized lineal regression. RESULTS: 103 patients were included, 19.4% indicated vertigo mostly during the second semester (60%). A median of 3.5 episodes was obtained (RIC: 1.5-7.5). Positional and episodic vertigos (40%) associated with unsteadiness (60%), headache (60%), photopsia (55%) and tinnitus (45%) were described. DHI in pregnant females with vertigo compared to those without vertigo, presented higher rates of moderate to severe disability in the emotional (30 vs. 2.4%: p = 0.001), functional (40 vs. 2.4%; p < 0.001) and physical (55 vs. 2.4%; p < 0.001) dimensions. Hospitalizations during the pregnancy (RP: 4.02; 95%CI: 1.64-9.85; p = 0.002) and previous episodes before pregnancy (RP: 2.37; 95%CI: 1.15-4.88; p = 0.019) were identified as associated factors with current vertigo episodes. CONCLUSIONS: The high frequency of vertigo in pregnant women suggests the importance of studying this condition during pregnancy, to achieve comprehensive management and generate effective prevention and control actions.

Oftalmoplejía infecciosa en un paciente con virus de la varicela-zóster / Infectious ophthalmoplegia in patients with varicella-zoster virus

Introducción: Una de las complicaciones de la reactivación del virus de la varicela-zóster es el compromiso de los nervios craneales; sin embargo, es inusual que se presente como una oftalmoplejía completa. Objetivo: Describir el caso de un adulto inmunocompetente que desarrolló una oftalmoplejía infecciosa por reactivación del virus de la varicela-zóster. Caso clínico: El paciente presentó alteración completa de la motilidad de los músculos extraoculares del ojo izquierdo con compromiso del reflejo pupilar, disminución en la agudeza visual y neuralgia trigeminal concomitante; no tuvo signos o síntomas sugestivos de encefalitis o meningitis. Días antes de la oftalmoplejía aparecieron vesículas en la región frontal y periorbitaria izquierdas. Mediante el estudio del líquido cefalorraquídeo (LCR) con panel para meningitis/encefalitis FilmArray® se documentó positividad solo para el virus de la varicela-zóster. El paciente fue tratado con aciclovir, esteroides y neuromoduladores, con lo cual obtuvo mejoría parcial de sus síntomas a las dos semanas. La discusión se realizó a partir de los pocos reportes de casos encontrados en diferentes bases de datos. Conclusiones: Este caso amplía el entendimiento clínico y terapéutico de una manifestación inusual de esta enfermedad frecuente, que combina un compromiso patológico de varios nervios craneales por la reactivación del virus de la varicela-zóster.

Introduction: Cranial nerve involvement is one of the complications of varicella-zoster virus reactivation; however, presenting complete ophthalmoplegia is unusual. Objective: To describe the case of an immunocompetent adult who developed an infectious ophthalmoplegia due to varicella-zoster virus reactivation. Clinical case: The patient presented complete alteration of the extraocular muscle motility of the left eye with pupillary reflex compromise, decrease in visual acuity and concomitant trigeminal neuralgia. The patient did not present signs or symptoms suggestive of encephalitis or meningitis. Days before the ophthalmoplegia, vesicles appeared in the left frontal and periorbital regions. Cerebrospinal fluid (CSF) examination with FilmArray® meningitis/encephalitis panel documented positivity for varicella-zoster virus only. The patient was treated with acyclovir, steroids and neuromodulators, resulting in partial improvement of his symptoms after two weeks. The discussion was based on the few case reports found in different databases. Conclusions: This case broadens the clinical and therapeutic understanding of an unusual manifestation of this common disease, which combines pathologic involvement of several cranial nerves due to varicella-zoster virus reactivation.

Sobrecarga del cuidador de pacientes con atrofia muscular espinal / Caregiver burden in spinal muscular atrophy

INTRODUCCIÓN La sobrecarga del cuidador ha sido ampliamente descrita en gerontología, pocos estudios la abordan en niños con enfermedades neuromusculares. El cuidado de pacientes con atrofia muscular espinal (AME), requiere atención continua de un tercero, pudiendo afectar la salud del cuidador y la calidad de atención y bienestar del paciente. El objetivo del estudio fue determinar el nivel de sobrecarga de los cuidadores de pacientes AME, identificando factores protectores y de riesgo asociados MÉTODOS Estudio observacional analítico transversal en padres de pacientes con AME, de un hospital privado de Santiago de Chile. Se analizaron datos demográficos clínicos y encuesta Zarit autoreportada por los padres de los pacientes con AME, realizada entre septiembre de 2017 y febrero de 2018. Se usó estadística descriptiva y regresión logística uni y multivariada para identificar factores asociados a sobrecarga RESULTADOS De los 50 padres encuestados, 14 (28%) eran de pacientes non-sitters, con sobrecarga intensa, mediana de puntaje 59 (37-76), 29 (58%) de pacientes sitters sobrecarga ligera, mediana 48 (32-79) y 7(14%) de pacientes walkers, ausencia de sobrecarga mediana 38 (23-54). Se identificaron como factores protectores de sobrecarga los años de enfermedad OR 0,9 (0,8-0,95) P=0,037 y la mayor edad de los pacientes OR 0,9(08,0,98) p=0,018. Factores de riesgo el uso de silla de ruedas OR 7,2(1,2-4,3) p=0,029 y la vía de alimentación artificial OR 9,2(1-78,8) p=0,040 CONCLUSIÓN Los padres de pacientes con AME tienen un significativo nivel de sobrecarga y existen factores que la aumentan y disminuyen. El equipo multidisciplinario debe integrar la medición periódica del nivel de sobrecarga, para intervenir oportunamente y procurar el cuidado integral de la familia.

Caregiver burden has been widely described in gerontology, few studies address it in children with neuromuscular diseases. The care of patients with spinal muscular atrophy (SMA) requires permanent care from a third person, which may affect the caregiver health, quality of care and well-being of the patient. The aim of the study was to determine the burden of SMA patient's caregivers, identifying associated protective and risk factors METHODS Descriptive cross-sectional analytical study in SMA patient's parents, from a private hospital in Santiago de Chile., demographic Clinical and self-reported Zarit survey data, parents self reported, conducted between September 2017 and February 2018, were analyzed. Descriptive statistics and uni and multivariate logistic regression were used to identify factors associated with overloading RESULTS Parents of non-sitter patients showed a median of 59 (37-76), corresponding to intense burden and those of sitters, a light burden, with a median score of 48 (32-79) Walkers patient's parents, presented a median score of 38 (23-54) that corresponds to an absence of burden. The years of illness and the higher age of the patients were identified as protective factors of overload. As risk factors of burden, the use of a wheelchair and artificial airway. Of the 50 parents surveyed, 14 (28%) were non-sitter patients, with intense overload, median 59(37-76), 29(58%) sitters patients, light overload, median 48 (32-79) and 7(14%) walker patients, absence of overload, median 38 (23-54). Protective factors of overload were years of disease OR 0,9(0,8-0,95) p=0.037 and the patients major age OR 0.9(0.8-0.98) p=0.018. Risk factors were the use of wheelchair OR 7,2(1,2-4,3) p=0.029 and artificial feeding support OR 9,2(1-78.8) p=0.040 CONCLUSION SMA patient's parents have a significant level of overload and there are factors that increase and decrease it. The multidisciplinary team must integrate the periodic measurement of the burden level, to make on time interventions and to ensure the integral care in the family.

Spontaneous symptomatic improvement in a pediatric patient with anti-3-hydroxy-3-methylglutraryl-coenzyme A reductase myopathy.

Immune-mediated necrotizing myopathy with antibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase is a subgroup of idiopathic inflammatory myopathies mainly described in adults and requiring long term immunomodulatory therapy for remission. Pediatric patients have been reported as small series or sporadic cases. We report an eight-year-old girl with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy, presenting with subacute proximal limb weakness, high creatine kinase and a muscle biopsy displaying necrotizing pattern, initially diagnosed as limb-girdle muscular dystrophy, but subsequently negative genetic testing. A noteworthy spontaneous improvement in her weakness suggested the possibility of an acquired autoimmune myopathy, confirmed by positive testing of anti-HMGCR antibodies titers. After four years of follow-up, she maintains normal strength with high levels of anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody. This patient shows that spontaneous fluctuations and spontaneous long-lasting symptomatic remission can occur in patients with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy. Some patients could present a wane and wax clinical course, an important aspect when assessing response to therapy.

An Activity-Based Sensing Approach for the Detection of Cyclooxygenase-2 in Live Cells.

Cyclooxygenase-2 (COX-2) overexpression is prominent in inflammatory diseases, neurodegenerative disorders, and cancer. Directly monitoring COX-2 activity within its native environment poses an exciting approach to account for and illuminate the effect of the local environments on protein activity. Herein, we report the development of CoxFluor, the first activity-based sensing approach for monitoring COX-2 within live cells with confocal microscopy and flow cytometry. CoxFluor strategically links a natural substrate with a dye precursor to engage both the cyclooxygenase and peroxidase activities of COX-2. This catalyzes the release of resorufin and the natural product, as supported by molecular dynamics and ensemble docking. CoxFluor enabled the detection of oxygen-dependent changes in COX-2 activity that are independent of protein expression within live macrophage cells.

A small-molecule competitive inhibitor of phosphatidic acid binding by the AAA+ protein NSF/Sec18 blocks the SNARE-priming stage of vacuole fusion.

The homeostasis of most organelles requires membrane fusion mediated by soluble N -ethylmaleimide-sensitive factor (NSF) attachment protein receptors (SNAREs). SNAREs undergo cycles of activation and deactivation as membranes move through the fusion cycle. At the top of the cycle, inactive cis-SNARE complexes on a single membrane are activated, or primed, by the hexameric ATPase associated with the diverse cellular activities (AAA+) protein, N-ethylmaleimide-sensitive factor (NSF/Sec18), and its co-chaperone α-SNAP/Sec17. Sec18-mediated ATP hydrolysis drives the mechanical disassembly of SNAREs into individual coils, permitting a new cycle of fusion. Previously, we found that Sec18 monomers are sequestered away from SNAREs by binding phosphatidic acid (PA). Sec18 is released from the membrane when PA is hydrolyzed to diacylglycerol by the PA phosphatase Pah1. Although PA can inhibit SNARE priming, it binds other proteins and thus cannot be used as a specific tool to further probe Sec18 activity. Here, we report the discovery of a small-molecule compound, we call IPA (inhibitor of priming activity), that binds Sec18 with high affinity and blocks SNARE activation. We observed that IPA blocks SNARE priming and competes for PA binding to Sec18. Molecular dynamics simulations revealed that IPA induces a more rigid NSF/Sec18 conformation, which potentially disables the flexibility required for Sec18 to bind to PA or to activate SNAREs. We also show that IPA more potently and specifically inhibits NSF/Sec18 activity than does N-ethylmaleimide, requiring the administration of only low micromolar concentrations of IPA, demonstrating that this compound could help to further elucidate SNARE-priming dynamics.

Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile.

METHODS: Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are essential steps to guide health policies. This was a descriptive study of a cohort of SMA patients from all over Chile. We analyzed the clinical, motor functional, and social data, as well as the care status of nutritional, respiratory and skeletal conditions. We also measured the SMN2 copy number in this population. RESULTS: We recruited 92 patients: 50 male; 23 SMA type-1, 36 SMA type-2 and 33 SMA type-3. The median age at genetic diagnosis was 5, 24 and 132 months. We evaluated the SMN2 copy number in 57 patients. The SMA type-1 patients were tracheostomized and fed by gastrostomy in a 69.6 % of cases, 65% of SMA type-2 patients received nocturnal noninvasive ventilation, and 37% of the whole cohort underwent scoliosis surgery. CONCLUSION: Ventilatory care for SMA type-1 is still based mainly on tracheostomy. This Chilean cohort of SMA patients had timely access to genetic diagnosis, ventilatory assistance, nutritional support, and scoliosis surgery. In this series, SMA type-1 is underrepresented, probably due to restrictions in access to early diagnosis and the high and early mortality rate.

Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile / Atrofia muscular espinal en Chile, resultados de un programa de atención médica nacional

ABSTRACT Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are essential steps to guide health policies. Methods This was a descriptive study of a cohort of SMA patients from all over Chile. We analyzed the clinical, motor functional, and social data, as well as the care status of nutritional, respiratory and skeletal conditions. We also measured the SMN2 copy number in this population. Results We recruited 92 patients: 50 male; 23 SMA type-1, 36 SMA type-2 and 33 SMA type-3. The median age at genetic diagnosis was 5, 24 and 132 months. We evaluated the SMN2 copy number in 57 patients. The SMA type-1 patients were tracheostomized and fed by gastrostomy in a 69.6 % of cases, 65% of SMA type-2 patients received nocturnal noninvasive ventilation, and 37% of the whole cohort underwent scoliosis surgery. Conclusion Ventilatory care for SMA type-1 is still based mainly on tracheostomy. This Chilean cohort of SMA patients had timely access to genetic diagnosis, ventilatory assistance, nutritional support, and scoliosis surgery. In this series, SMA type-1 is underrepresented, probably due to restrictions in access to early diagnosis and the high and early mortality rate.

La Atrofia Muscular Espinal (AME) ha concitado mucha atención en los últimos 2 años debido a la aprobación del primer tratamiento intratecal para esta enfermedad neurodegenerativa. América Latina necesita desarrollar la demografía de AME, un acceso oportuno al diagnóstico y un seguimiento apropiado de los pacientes que incorporen los estándares de atención recomendados por expertos. Estos son pasos esenciales para orientar las futuras políticas de salud en esta enfermedad. Métodos Este es un estudio descriptivo de una cohorte de pacientes con AME de todo el país. Se analizaron los datos clínicos, motores, funcionales, sociales y el estado nutricional, respiratorio y esquelético de los pacientes. También medimos el número de copias del gen SMN2 en esta población. Resultados se reclutaron 92 pacientes, 50 varones; 23 AME tipo 1, 36 AME tipo 2 y 33 AME tipo 3. La edad media al diagnóstico genético fue de 5, 24 y 132 meses respectivamente. Evaluamos el número de copias de SMN2 en 57 pacientes. Un 69,6% de los pacientes con AME tipo 1 estaban traqueostomízados y gastrostomizados , un 65% de los pacientes con AME tipo 2 usaban ventilación nocturna no invasiva y el 37% de toda la cohorte presentaba una cirugía de escoliosis. Conclusión Esta cohorte chilena de pacientes con AME tuvo acceso oportuno al diagnóstico genético, asistencia ventilatoria, apoyo nutricional y cirugía de escoliosis, sin embargo, la atención ventilatoria para AME tipo 1 continúa aun basándose principalmente en la traqueostomía. En esta serie, AME tipo 1 está subrepresentada, probablemente debido a las restricciones en el acceso al diagnóstico temprano y la tasa de mortalidad alta y temprana.

Phosphatidic acid induces conformational changes in Sec18 protomers that prevent SNARE priming.

Eukaryotic cell homeostasis requires transfer of cellular components among organelles and relies on membrane fusion catalyzed by SNARE proteins. Inactive SNARE bundles are reactivated by hexameric N-ethylmaleimide-sensitive factor, vesicle-fusing ATPase (Sec18/NSF)-driven disassembly that enables a new round of membrane fusion. We previously found that phosphatidic acid (PA) binds Sec18 and thereby sequesters it from SNAREs and that PA dephosphorylation dissociates Sec18 from the membrane, allowing it to engage SNARE complexes. We now report that PA also induces conformational changes in Sec18 protomers and that hexameric Sec18 cannot bind PA membranes. Molecular dynamics (MD) analyses revealed that the D1 and D2 domains of Sec18 contain PA-binding sites and that the residues needed for PA binding are masked in hexameric Sec18. Importantly, these simulations also disclosed that a major conformational change occurs in the linker region between the D1 and D2 domains, which is distinct from the conformational changes that occur in hexameric Sec18 during SNARE priming. Together, these findings indicate that PA regulates Sec18 function by altering its architecture and stabilizing membrane-bound Sec18 protomers.

Administración deportiva: un área con retos y gran futuro / Sports management: an area with challenges and a great future / Administração esportiva: uma área com desafios e um grande futuro

Objetivo: identificar las necesidades formativas y las demandas del mundo laboral del profesional en administración y gestión deportiva, buscando con ello que su formación garantice un desempeño cada vez más eficiente en las organizaciones del sector. Metodología: se analizaron los datos de la caracterización de los egresados del Instituto Universitario de Educación Física de la Universidad de Antioquia en aspectos socioeconómicos, laborales y formativos. Además, se analizó un foro realizado en la institución, en el cual participaron expertos en el campo de la gestión. Resultados: se destaca la necesidad, en el campo laboral, de educadores físicos competentes en administración y gestión deportiva. Se evidencia, además, que el rol del egresado del Instituto ha ido ganando protagonismo en diferentes organizaciones del sector, pasando de cargos operativos a ejecutivos y directivos, dejando como posibles líneas de investigación el análisis de la gestión de los dirigentes en temas específicos de la gerencia deportiva como el talento humano y la satisfacción de usuarios en las entidades que lideran.

Objective: to identify the formative needs and demands of the professional world of sports administration and management, seeking with it that their formation guarantees an increasingly efficient performance in the organizations of the sector. Methodology: the characterization data of the graduates of the Instituto de Educación Física de la Universidad de Antioquia {Physical Institute of the University of Antioquia} in socio-economics, labor and formation aspects were analyzed. In addition, a forum held at the institution, in which many experts on the matter participated was analyzed as well. Results: It is highlighted the need of competent physical educators in sports administration and management in the labor field. It was also noted that the role of graduates from the Institute has been gaining prominence in different organizations of the sector, transitioning from operational positions to executives and managers; leaving as possible lines of research to analyze the management of leaders on specific topics of the sports management such as, human resources, and user satisfaction in the entities they lead.

Objetivo: identificar as necessidades formativas e as demandas do mundo trabalhista do profissional em administração e gerenciamento esportivo, procurando com isso que sua formação garanta um desempenho a cada vez mais eficiente nas organizações do setor. Metodologia: analisaram-se os dados da caracterização dos graduados do Instituto Universitário de Educação Física da Universidade de Antioquia em aspectos socioeconômicos, trabalhistas e formativos. Ademais, analisou-se um foro realizado na instituição, no qual participaram experientes no campo do gerenciamento. Resultados: destaca-se a necessidade, no campo trabalhista, de educadores físicos competentes em administração e gerenciamento esportivo. Evidenciou-se, ademais, que o papel do graduado do Instituto ganhara protagonismo em diferentes organizações do setor, passando de cargos operativos a executivos e diretores, deixando como possíveis linhas de investigação a análise do gerenciamento dos dirigentes em temas específicos da gerencia esportiva, como o talento humano e a satisfação de usuários nas entidades que lideram

Miopatías relacionadas a colágeno VI: cuando sospecharlas, cómo identificarlas: aporte de la resonancia magnética muscular / Collagen VI related myopathies: when to suspect, how to identify: the contribution of muscle magnetic resonance

Resumen: Las miopatías secundarias a mutaciones en el colágeno VI (M-COLVI) son las más frecuentes en el hemisferio norte, afectando población adulta y pediátrica. No existen datos de su prevalencia en Latinoamérica. Se caracterizan por presentar una gran variabilidad clínica, desde fenotipos severos, como la distrofia muscular congénita de Ullrich (DMCU), a intermedios y leves como la Miopatía de Bethlem (MB). Su inicio también es variable y se extiende desde el período de recién nacido hasta la vida adulta. Dada la presencia de hiperlaxitud articular, el diagnóstico diferencial se debe realizar con diversas enfermedades del tejido conectivo. El algoritmo diagnóstico clásico en muchos pacientes ha sido insuficiente para orientar el estudio genético de forma adecuada, y a partir de esto la resonancia magnética muscular ha emergido como una herramienta de gran utilidad para una mejor aproxima ción diagnóstica de ésta y otras patologías musculares. Esta revisión tiene como objetivo examinar las formas de presentación, características clínicas, estudio diagnóstico específico, diagnóstico dife rencial y manejo de una de las patologías musculares herediatarias más frecuentes, con énfasis en el aporte de la resonancia magnética muscular.

Abstract: Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. There are no data on its prevalence in Latin America. They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). Its onset is also variable and extends from the neonatal period to adulthood. Given the presence of joint hypermobility, the differential diagnosis should be made with various connective tissue diseases. The classical diagnostic algorithm in many patients has been insufficient to guide the genetic study in an adequate way, and from this the muscular magnetic resonance imaging has emerged as a very useful tool for a better diagnostic approach of this and other muscular pathologies. This ob jective of this review is to study the forms of presentation, clinical characteristics, specific diagnostic study, differential diagnosis and management of one of the most frequent hereditary muscular patho logies, with emphasis on the contribution of muscle magnetic resonance imaging.

Perfil de (morbilidad de pacientes hipertensos de una ese del área metropolitana de medellín, colombia 2013

Introducción. La hipertensión arterial es una enfermedad crónica degenerativa, considerada como un problema de salud pública a nivel mundial. Objetivo. Describir el perfil de comorbilidad de pacientes del programa de HTA de una ESE en el área metropolitana de Medellín, 2013. Materiales y métodos. Estudio descriptivo de 4827 personas pertenecientes a un programa de control de la HTA. Se calcularon las prevalencias globales de las enfermedades diagnósticas según la Clasificación Internacional de Enfermedades. Resultados. El 71,2 % fueron mujeres; la edad promedio fue 64 años con rango intercuartil entre 55 y 74 años. Se identificaron 153 comorbilidades, entre las cuales las más frecuentes fueron las metabólicas (17 %), las infecciosas (15,7 %), neurológicas (15 %), cardiovasculares (12 %) y degenerativas (2,6 %). Conclusiones. Este estudio constituye un antecedente importante para que la atención, prevención y promoción en salud incorpore acciones específicas para los grupos de mayor riesgo identificados en cada patología.

Introduction. Hypertension is a chronic degenerative disease considered as a public health problem worldwide magnitude. Objective. To describe the comorbidity profile of patients with HBP of an Institution Services Health of the metropolitan area of Medellin, 2013. Materials and Methods. Descriptive studied of 4,827 persons belonging to a program for control of hypertension. Global prevalence was calculated for each disease of the International Classification of Diseases. Results. 71.2 % were female; the average age was 64 years with interquartile range between 55 and 74 years. 153 pathologies were identified among which the most prevalent were metabolic with 17 %, followed by infectious 15.7 %, neurological 15 %, cardiovascular 12 % and degenerative 2.6 %. Conclusions. This study is an important issue for care, prevention and promotion health that incorporate specific actions for the highest risk groups identified in each pathology.

Introdução. A hipertensão arterial é uma enfermidade crônica degenerativa considerada como um problema de saúde pública em nível mundial. Objetivo. Descrever o perfil de comorbilidade de pacientes do programa de HTA de uma ESE na área metropolitana de Medellín, 2013. Materiais e métodos. Estudo descritivo de 4827 pessoas pertencentes a um programa de controle da HTA. Foram calculadas as prevalências globais das enfermidades diagnósticas segundo a Classificação Internacional de Enfermidades. Resultados. 71,2 % eram mulheres; a idade média foi de 64 anos com amplitude interquartil entre 55 e 74 anos. Foram identificados 153 comorbilidades, entre as quais as mais frequentes foram as metabólicas (17 %), as infecciosas (15,7 %), as neurológicas (15 %), as cardiovasculares (12 %) e as degenerativas (2,6 %). Conclusões. Eeste estudo constitui um antecedente importante para que a atenção, a prevenção e a promoção da saúde incorporem ações específicas para os grupos de maior risco identificados em cada patologia.

Triple terapia antitrombótica en práctica real: utilidad pronóstica de la escala HAS-BLED / Triple antithrombotic therapy in clinical practice: prognostic utility of HAS-BLED score

Sr. Editor: La prescripción de triple terapia antitrombótica, definida como el uso combinado de ácido acetilsalicílico, un inhibidor de P2Y12 y anticoagulación oral, está indicada cuando coexisten enfermedades como la cardiopatía isquémica, la fibrilación auricular o la cirugía valvular cardiaca, y supone un reto clínico de prevalencia creciente todavía sin resolver. Debido al incremento en el riesgo hemorrágico, se recomienda que la duración de la triple terapia antitrombótica sea la menor posible, con un máximo período de un ano˜ en pacientes con infarto agudo de miocardio e indicación de anticoagulación oral. Otras medidas de consenso incluyen el uso preferente de antagonistas de la vitamina K para la anticoagulación oral (o bien dabigatrán 110 mg) y clopidogrel como antiagregante dual (evitando el uso de prasugrel y ticagrelor), la protección gástrica con inhibidores de la bomba de protones y un INR objetivo entre 2,0 y 2,51 . La indicación de triple terapia antitrombótica debe establecerse, por tanto, tras la evaluación individualizada del paciente atendiendo a la presencia o ausencia de síndrome coronario agudo, el tipo de stent implantado y el riesgo hemorrágico. Así, en la valoración de este riesgo, la escala HAS-BLED puede ser útil, si bien su trascendencia pronóstica en este contexto clínico y en situación de práctica real han sido poco estudiadas.

Perfil de comorbilidad de pacientes hipertensos de una ESE del área metropolitana de Medellín, Colombia 2013 / Comorbidity profile of hypertensive patients of an ESE in the metropolitan area of Medellín, Colombia 2013 / Perfil de comorbilidade de pacientes hipertensos de uma ESE da área metropolitana de Medellín, Colômbia 2013

Introducción. La hipertensión arterial es una enfermedad crónica degenerativa, considerada como un problema de salud pública a nivel mundial. Objetivo. describir el perfil de comorbilidad de pacientes del programa de HTA de una ESE en el área metropolitana de Medellín, 2013. Materiales y métodos. Estudio descriptivo de 4827 personas pertenecientes a un programa de control de la HTA. Se calcularon las prevalencias globales de las enfermedades diagnósticas según la Clasificación Internacional de Enfermedades. Resultados. El 71,2 % fueron mujeres; la edad promedio fue 64 años con rango intercuartil entre 55 y 74 años. Se identificaron 153 comorbilidades, entre las cuales las más frecuentes fueron las metabólicas (17 %), las infecciosas (15,7 %), neurológicas (15 %), cardiovasculares (12 %) y degenerativas (2,6 %). Conclusiones. Este estudio constituye un antecedente importante para que la atención, prevención y promoción en salud incorpore acciones específicas para los grupos de mayor riesgo identificados en cada patología.

Introduction. Arterial hypertension is a chronic degenerative disease, considered a global public health problem. Objective. to describe the comorbidity profile of patients in the HTN program of an ESE in the metropolitan area of Medellin, 2013. Materials and methods. Descriptive study of 4827 people belonging to a control program of the HTA. The overall prevalence of diagnostic diseases was calculated according to the International Classification of Diseases. Results. 71.2% were women; the average age was 64 years with interquartile range between 55 and 74 years. We identified 153 comorbidities, among which the most frequent were metabolic (17%), infectious (15.7%), neurological (15%), cardiovascular (12%) and degenerative (2.6%). Conclusions. This study is an important precedent for health care, prevention and promotion to incorporate specific actions for groups at higher risk identified in each pathology.

Introdução. A hipertensão arterial é uma doença crônica degenerativa, considerada um problema de saúde pública global. Objetivo. descrever o perfil de comorbidade de pacientes do programa de HTA de uma ESE na área metropolitana de Medellín, 2013. Materiais e métodos. Estudo descritivo de 4827 pessoas pertencentes a um programa de controle da HTA. Foram calculadas as prevalências globais das doenças diagnósticas segundo a Classificação Internacional de Doenças. Resultados. 71,2% eram mulheres; a idade média foi de 64 anos com faixa interquartal entre 55 e 74 anos. Foram identificadas 153 comorbidades, entre as quais as mais frequentes foram as metabólicas (17 %), as infecciosas (15,7 %), neurológicas (15 %), cardiovasculares (12 %) e degenerativas (2,6 %). Conclusões. Este estudo constitui um antecedente importante para que a atenção, prevenção e promoção em saúde incorpore ações específicas para os grupos de maior risco identificados em cada patologia.

Bacteriemia recurrente por Bordetella bronchiseptica en un paciente con trasplante de medula ósea / Bordetella bronchiseptica recurrent bacteraemia in a patient with bone marrow transplantation

Se reporta un caso de bacteriemia recurrente por Bordetella bronchiseptica en un paciente inmunocomprometido con antecedentes de trasplante alogénico de medula ósea por síndrome mielodisplásico, quien ingresó al hospital por síndrome febril. Bordetella bronchiseptica es un agente patógeno veterinario poco común en humanos que afecta principalmente a pacientes inmunocomprometidos y es causa poco frecuente de bacteriemia.

We report a case of recurrent bacteraemia caused by Bordetella bronchiseptica in an immunocompromised patient with a history of allogenic bone marrow transplantation for myelodysplastic syndrome, who was admitted to hospital with febrile syndrome. Bordetella bronchiseptica is an uncommon human pathogen which mainly affects immunocompromised patients, being a rare cause of bacteraemia.

[Bordetella bronchiseptica recurrent bacteraemia in a patient with bone marrow transplantation]. / Bacteriemia recurrente por Bordetella bronchiseptica en un paciente con trasplante de medula ósea.

We report a case of recurrent bacteraemia caused by Bordetella bronchiseptica in an immunocompromised patient with a history of allogenic bone marrow transplantation for myelodysplastic syndrome, who was admitted to hospital with febrile syndrome. Bordetella bronchiseptica is an uncommon human pathogen which mainly affects immunocompromised patients, being a rare cause of bacteraemia.

Deficiencia de andrógenos y enfermedad cardiovascular en el hombre / Androgens deficiency and cardiovascular disease in the man

El hipogonadismo masculino, manifestado por la disminución de los niveles séricos de testosterona,representa una causa importante de morbimortalidad en pacientes mayores de 40 años. Su prevalencia es proporcional a la edad, y las diversas manifestaciones clínicas, de índole física, sicológica y sexual, conllevan a un marcado deterioro clínico del paciente. El impacto de la deficiencia de testosterona sobre el aparato cardiovascular acelera la progresión de la enfermedad coronaria, disminuye la sensibilidad a la insulina y aumenta la mortalidad global. Según la Sociedad Americana de Endocrinología,el diagnóstico bioquímico se realiza con valores de testosterona total <300 mg/dL. Definir el inicio de la terapia de reemplazo con testosterona siempre deberá incluir la clínica y las mediciones de laboratorio. El efecto sistémico de la terapia se verá reflejado en la mejoría de la fatiga, de la libido y del mejor control de los factores de riesgo cardiovascular, que incluye la disminución de la grasa visceral, mejoría de la sensibilidad a la insulina, del perfil lipídico, de las cifras de presión arterial y en algunos casos, disminución de la mortalidad.

Male hypogonadism, manifested by decreased serum testosterone levels, is an important cause of morbidity and mortality in patients older than 40 years. Its prevalence is proportional to age, and several clinical manifestations, as physical, psychological and sexual, lead to a marked clinical deterioration. The impact of testosterone deficiency on the cardiovascular system accelerates the progression of coronary artery disease, decreases insulin sensitivity and increases overall mortality. American Society for Endocrinology accepted serum values lower than 300 ng/dL as a diagnostic support. To define the start of testosterone replacement therapy should always include clinical and laboratory measurements. Systemic therapy effects will be reflected in the fatigue eradication, libido improvement, and better control of cardiovascular risk factors, including decreased abdominal fat, improved insulin sensitivity, lipid profile, arterial blood pressure, and in some cases, reduction of the mortality.

Vaporización láser CO2 de amígdalas en niños: una técnica segura y eficaz / CO2 laser vaporization of tonsils in children: a safe and effective technique

Introducción: La hipertrofia amigdalina es una de las principales causas de ronquido infantil, tiene una prevalencia que oscila entre el 9 y el 10% y alcanza hasta el 30% en niños de 3-6 años. Se debe nombrar que solo el 3% de ese 30% tienen OSA, pues esa es la verdadera indicación de la cirugía. El objetivo fue evaluar la seguridad y eficacia de la vaporización de amígdalas con láser CO2 en pacientes pediátricos con OSA, del Servicio de Otorrinolaringología de la Clínica Carlos Ardila Lülle - Bucaramanga. Métodos: Estudio descriptivo de 47 niños entre 3 y 11 años, sometidos al procedimiento entre enero del 2011 y febrero del 2012, por obstrucción ventilatoria alta con pausas respiratorias mayores de 10 segundos durante el sueño, secundaria a hipertrofia del tejido amigdalino. Resultados: 97,8% de los niños estudiados tenían amígdalas grado IV y 2,1% grado III. Se debe exponer por qué existe tan alto porcentaje en el grado IV, pues la diferencia es muy grande, y eso puede ser objeto de censura. El tiempo quirúrgico fue, en promedio, de 25 minutos. En el 100% el procedimiento fue ambulatorio. Hay que tener cuidado con esto, porque los niños que van a cirugía por OSA como indicación deben someterse a hospitalización posterior en la UCI, pues corren el riesgo de presentar apneas, puesto que sus receptores de CO2 disminuyen la sensibilidad de hipoxia, pues al quitar el tejido no hay obstrucción; entonces, sus niveles de CO2 se reducen mucho, y esto es lo único que estimula en los centros respiratorios de ellos, y así se produce la apnea. 24 niños no registraron dolor (51%), y dos presentaron emesis (0,94%). La evolución postintervención fue satisfactoria en la mayoría, y ninguno de los pacientes presentó cuadros de sangrado o infección. Un mes después del procedimiento, 98% de los padres referían una notable mejoría de la respiración oral (ronquido), del sueño y los síntomas diurnos, o episodios de apnea. De lo contrario, sería una cirugía sin criterios adecuados, según lo relatado en la literatura. En ninguno de los pacientes que cumplieron un año de evolución se evidenció hipertrofia del tejido residual...

Introduction: Tonsillar hypertrophy is one of main causes of child snoring, having a prevalence ranging between 9 and 10% and reaching until 30% in children between 3 to 6 years old. The aim of our study was to determinate the efficacy and safety of tonsil laser vaporization with CO2 in the Otorrinolaryngology Service at the Clínica Carlos Ardila Lülle, Bucaramanga, Colombia. Methods: Descriptive study on 47 children between 3 and 11 years old, who underwent tonsil laser vaporization with CO2 in the last year by presented high ventilatory obstruction secondary to tonsillar hypertrophy tissue. Results: 97.8% had Grade IV tonsils and 2.1% were grade III. The operating time averaged 25 minutes. The 100% of the procedures were ambulatory. 24 children no reported pain (51%), 2 patients experienced emesis (0.94%). The evolution was satisfactory in more of them and not body presented bleeding or infection. After one month, 98% of parents reported a significant improvement in mouth breathing, snoring, sleep, and daily symptoms. Between children with one year evolution nobody of them presented residual tissue hypertrophy...