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OBJECTIVE: GNAO1-related disorders (OMIM #615473 and #617493), caused by variants in the GNAO1 gene, are characterized by developmental delay or intellectual disability, hypotonia, movement disorders, and epilepsy. Neither a genotype-phenotype correlation nor a clear severity score have been established for this disorder. The objective of this prospective and retrospective observational study was to develop a severity score for GNAO1-related disorders, and to delineate the correlation between the underlying molecular mechanisms and clinical severity. METHODS: A total of 16 individuals with GNAO1-related disorders harboring 12 distinct missense variants, including four novel variants (p.K46R, p.T48I, p.R209P, and p.L235P), were examined with repeated clinical assessments, video-electroencephalogram monitoring, and brain magnetic resonance imaging. The molecular pathology of each variant was delineated using a molecular deconvoluting platform. RESULTS: The patients displayed a wide variability in the severity of their symptoms. This heterogeneity was well represented in the GNAO1-related disorders severity score, with a broad range of results. Patients with the same variant had comparable severity scores, indicating that differences in disease profiles are not due to interpatient variability, but rather, to unique disease mechanisms. Moreover, we found a significant correlation between clinical severity scores and molecular mechanisms. INTERPRETATION: The clinical score proposed here provides further insight into the correlation between pathophysiology and phenotypic severity in GNAO1-related disorders. We found that each variant has a unique profile of clinical phenotypes and pathological molecular mechanisms. These findings will contribute to better understanding GNAO1-related disorders. Additionally, the severity score will facilitate standardization of patients categorization and assessment of response to therapies in development. ANN NEUROL 2023;94:987-1004.
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Epilepsia , Trastornos del Movimiento , Humanos , Estudios Prospectivos , Trastornos del Movimiento/genética , Epilepsia/diagnóstico por imagen , Epilepsia/genética , Mutación Missense , Proteínas de Unión al GTP/genética , Subunidades alfa de la Proteína de Unión al GTP Gi-Go/genética , Subunidades alfa de la Proteína de Unión al GTP Gi-Go/metabolismoRESUMEN
BACKGROUND: The presence of the human lung microbiota has been demonstrated in patients with different lung diseases, mainly in sputum samples. However, for study of the alveolar microbiota, a bronchoalveolar lavage (BAL) sample represents the lower respiratory tract (LRT) environment. It is currently unknown whether there is a specific alveolar microbiota profile in human lung diseases, such as pulmonary tuberculosis (TB) and interstitial pneumonia (IP). METHODS: BAL samples from six active TB patients, six IP patients and ten healthy volunteers were used for DNA extraction followed by amplification of the complete bacterial 16S ribosomal RNA gene (16S rDNA). The 16S rDNA was sequenced with a MiSeq Desktop Sequencer, and the data were analysed by QIIME software for taxonomic assignment. RESULTS: The alveolar microbiota in TB and IP patients and healthy volunteers was characterized by six dominant phyla, Firmicutes, Proteobacteria, Bacteroidetes, Actinobacteria, Fusobacteria and Cyanobacteria. A significant reduction in the abundance of Firmicutes was observed in IP patients. In TB and IP patients, the diversity of the alveolar microbiota was diminished, characterized by a significant reduction in the abundance of the Streptococcus genus and associated with increased Mycobacterium abundance in TB patients and diminished Acinetobacter abundance in IP patients with respect to their abundances in healthy volunteers. However, an important difference was observed between TB and IP patients: the Fusobacterium abundance was significantly reduced in TB patients. Exclusive genera that were less abundant in patients than in healthy volunteers were characterized for each study group. CONCLUSIONS: This study shows that the alveolar microbiota profile in BAL samples from TB and IP patients, representing infectious and non-infectious lung diseases, respectively, is characterized by decreased diversity.
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Enfermedades Pulmonares Intersticiales/microbiología , Microbiota , Tuberculosis Pulmonar/microbiología , Actinobacteria/aislamiento & purificación , Actinobacteria/metabolismo , Adulto , Anciano , Bacteroidetes/aislamiento & purificación , Bacteroidetes/metabolismo , Lavado Broncoalveolar , Cianobacterias/aislamiento & purificación , Cianobacterias/metabolismo , Femenino , Firmicutes/aislamiento & purificación , Firmicutes/metabolismo , Fusobacterias/aislamiento & purificación , Fusobacterias/metabolismo , Voluntarios Sanos , Humanos , Masculino , Persona de Mediana Edad , Proteobacteria/aislamiento & purificación , Proteobacteria/metabolismo , ARN Bacteriano/genética , ARN Bacteriano/aislamiento & purificación , ARN Ribosómico 16S/genética , ARN Ribosómico 16S/aislamiento & purificación , Sistema Respiratorio/microbiología , Esputo/microbiología , Adulto JovenRESUMEN
OBJECTIVE: To evaluate the installation of strategies in the higher complexity hospitals (HMC, in Spanish) of public health in Chile starting from the results of the Balanced Scorecard (BSC), during the years 2011-2012. MATERIALS AND METHODS: The implementation of the BSC is described, the strategies and indicators identified, and the results of the 57 HMC compared and analyzed. RESULTS: Starting from the comparison of the results it is discovered that the BSC allows to evaluate the installation of the strategies. CONCLUSION: Differences are identified in the installation of the strategies by geographical area, with North presenting a higher score (20.21), followed by Center (10.41) and South (19.50), which can be explained by the size and complexity of this establishments, variables that should be incorporated in the evaluation of the results of the BSC.
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Hospitales Públicos/normas , Indicadores de Calidad de la Atención de Salud , Chile , Encuestas de Atención de la Salud , Implementación de Plan de Salud , Humanos , Mejoramiento de la CalidadRESUMEN
IFN-λ or type III IFN is an important mediator of antiviral response. Several respiratory viruses induce the production of IFN-λ during their course of infection. However, they have also developed intricate mechanisms to inhibit its expression and activity. Despite a considerable amount of research on the regulatory mechanisms of respiratory viruses on the IFN-λ response, little is still known about the effect of this cytokine on immune cells and the antiviral effects of all IFN-λ isoforms, and a better understanding of the detrimental effects of IFN-λ treatment is required. Here we highlight the relevance of IFN-λ as an antiviral cytokine in the respiratory tract. Data from studies in vitro, ex vivo, experimental animal models, and ongoing clinical trials emphasize the therapeutic opportunity that IFN-λ represents to treat and prevent different types of respiratory viral infections.
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Virosis , Virus , Animales , Interferón lambda , Antivirales/farmacología , Antivirales/uso terapéutico , Citocinas/metabolismo , Virosis/tratamiento farmacológicoRESUMEN
Human metapneumovirus (HMPV) is a nonsegmented, single-stranded negative RNA virus and a member of the Pneumoviridae family. During HMPV infection, macrophages play a critical role in defending the respiratory epithelium by secreting large amounts of type I interferon (IFN). MicroRNAs (miRNAs) are small, noncoding, single-stranded RNAs that play an essential role in regulating gene expression during normal cellular homeostasis and disease by binding to specific mRNAs, thereby regulating at the transcriptional and post-transcriptional levels with a direct impact on the immune response and other cellular processes. However, the role of miRNAs in macrophages and respiratory viral infections remains largely unknown. Here, we characterized the susceptibility of THP-1-derived macrophages to HMPV infection and the effect of hsa-miR-4634 on these cells. Transfection of an miRNA mimic and inhibitor demonstrated that hsa-miR-4634 regulates the IFN response in HMPV-infected macrophages, suggesting that HMPV induces the expression of the miRNA as a subversion mechanism of the antiviral response. This effect was not limited to macrophages, as a similar effect was also observed in epithelial cells. Overall, our results demonstrate that hsa-miR-4634 is an important factor in regulating the IFN response in macrophages and epithelial cells during HMPV infection.
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Interferón Tipo I , Metapneumovirus , MicroARNs , Infecciones por Paramyxoviridae , Humanos , Células Epiteliales , MicroARNs/genética , MicroARNs/metabolismo , Macrófagos/metabolismoRESUMEN
BACKGROUND: The integration of immune checkpoint inhibitors (ICI) for the treatment of melanoma has resulted in remarkable and durable responses. Given the potential role of immunosenescence, age may contribute to differential ICI efficacy and toxicity. While older patients have been studied in detail, outcomes from ICI in young patients (≤40 years) are not well characterised. METHODS: We performed a multi-institutional, retrospective study of patients with advanced melanoma treated with anti-PD-1 monotherapy or ICI combination (ipilimumab and anti-PD-1). Response rates, survival, and toxicities were examined based on age comparing those under 40 years of age with older patients (age 41-70 and ≥ 71 years). RESULTS: A total of 676 patients were included: 190 patients (28%) aged ≤40 years, 313 (46%) between ages 41-70, and 173 patients (26%) aged ≥71. Patients ≤40 years had higher response rates (53% vs 38%, p = 0.035) and improved progression-free survival (median 13.7 vs 4.0 months, p = 0.032) with combination ICI compared to monotherapy. Progression-free survival was similar among groups while overall survival was inferior in patients >70 years, who had low response rates to combination therapy (28%). ICIs had a similar incidence of severe toxicities, though hepatotoxicity was particularly common in younger patients vs. patients >40 with monotherapy (9% vs. 2%, p = 0.007) or combination ICI (37% vs. 10%, p < 0.001). CONCLUSIONS: ICIs had comparable efficacy between younger and older patients, although outcomes were superior with combination ICI compared to monotherapy in patients aged ≤40 years. Toxicity incidence was similar across age groups, though organs affected were substantially different.
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Antineoplásicos Inmunológicos , Melanoma , Neoplasias Primarias Secundarias , Humanos , Adulto Joven , Adulto , Inhibidores de Puntos de Control Inmunológico/efectos adversos , Estudios Retrospectivos , Antineoplásicos Inmunológicos/efectos adversos , Melanoma/patología , Ipilimumab/uso terapéutico , Neoplasias Primarias Secundarias/inducido químicamenteRESUMEN
Breast cancer is the most incidental and deadly neoplasm worldwide; in Mexico, very few epidemiologic reports have analyzed the pathological features and its impact on their clinical outcome. Here, we studied the relation between pathological features and the clinical presentation at diagnosis and their impact on the overall and progression-free survival of patients with breast cancer. For this purpose, we collected 199 clinical records of female patients, aged at least 18 years old (y/o), with breast cancer diagnosis confirmed by biopsy. We excluded patients with incomplete or conflicting clinical records. Afterward, we performed an analysis of overall and progression-free survival and associated risks. Our results showed an average age at diagnosis of 52 y/o (24-85), the most common features were: upper outer quadrant tumor (32%), invasive ductal carcinoma (76.8%), moderately differentiated (44.3%), early clinical stages (40.8%), asymptomatic patients (47.8%), luminal A subtype (47.8%). Median overall survival was not reached, but median progression-free survival was 32.2 months (29.75-34.64, CI 95%) associated risk were: clinical stage (p < 0.0001) symptomatic presentation (p = 0.009) and histologic grade (p = 0.02). Therefore, we concluded that symptom presence at diagnosis impacts progression-free survival, and palpable symptoms are related to an increased risk for mortality.
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Neoplasias de la Mama , Carcinoma Ductal de Mama , Adulto , Femenino , Humanos , Neoplasias de la Mama/patología , Carcinoma Ductal de Mama/patología , México/epidemiología , Estadificación de Neoplasias , Pronóstico , Estudios Retrospectivos , Adulto Joven , Persona de Mediana Edad , Anciano , Anciano de 80 o más AñosRESUMEN
Toll-like receptors (TLRs) are the largest pattern recognition receptors responsible for activating the innate and adaptive immune response against viruses through the release of inflammatory cytokines and antiviral mediators. Viruses are recognized by several TLRs, including TLR8, which is known to bind ssRNA structures. However, the similarities between TLR8 and TLR7 have obscured the distinctive characteristics of TLR8 activation and its importance in the immune system. Here we discuss the activation and regulation of TLR8 by viruses and its importance in therapeutical options such as vaccine adjuvants and antiviral stimulators.
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The expression of small non-coding RNA MicroRNAs (miRNAs) during respiratory viral infections is of critical importance as they are implicated in the viral replication, immune responses and severity of disease pathogenesis. Respiratory viral infections have an extensive impact on human health across the globe. For that is essential to understand the factors that regulate the host response against infections. The differential miRNA pattern induced by respiratory viruses has been reported, including include influenza A virus (IAV), human respiratory syncytial virus (HRSV), human metapneumovirus (HMPV), adenovirus (AdV), and more recently, severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection. In this commentary, we highlight the importance of miRNAs identification and the contribution of these molecules in the modulation of the immune response through the upregulation and downregulation of miRNAs expression in different immune and non-immune cells.
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BACKGROUND: Immunotherapy has demonstrated an improved overall survival (OS) and progression-free survival (PFS) as second-line treatment and subsequent lines compared with chemotherapy. MATERIALS & METHODS: This was a retrospective review among eight medical centers comprising 100 patients with a confirmed diagnosis of non-small-cell lung carcinoma, in their second-line treatment or beyond with immune checkpoints inhibitors treatment. The current study aimed to analyze effectiveness of immunotherapy in second-line treatment or further in the Mexican population, using PFS rate, OS rate and the best objective response to treatment by RECIST 1.1 as a surrogate of effectiveness. RESULTS: In total, 100 patients met the criteria for enrollment in the current study. From the total study population, 49 patients (49.0%) were male and 51 (51.0%) were female, with an average age of 60 years and stage IV as the most prevalent clinical stage at the beginning of the study. A total of 61 patients (61.0%) had partial response; 11 (11.0%) stable disease; 2 (2.0%), complete response, 4 (4.0%), progression; and 22 (22.0%) were nonevaluable. We found a median PFS of 4 months (95% CI: 3.2-4.7 months) and an OS of 9 months (95% CI: 7.2-10.7 months). CONCLUSION: The response to immunotherapy is similar, with an improvement in OS and PFS, independent of which drug is used. Patients using nivolumab had a better survival, although that was not statistically significant.
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PURPOSE: The LUME-Lung 1 study has brought consistent evidence of the effective use of nintedanib in lung adenocarcinoma as a second line of treatment; however, differences among ethnicities have been found in some studies. METHODS: This was a retrospective review among 21 medical centers of 150 patients with a confirmed diagnosis of lung adenocarcinoma, included in a compassionate use program of nintedanib from March 2014 to September 2015. The current study aimed to analyze the effectiveness of nintedanib in combination with docetaxel in the Mexican population, using progression-free survival rate and the best objective response to treatment by RECIST 1.1 as a surrogate of effectiveness. In addition, we examined the toxicity profile of our study population as a secondary end point. RESULTS: After exclusion criteria, only 99 patients met the criteria for enrollment in the current study. From the total study population, 53 patients (53.5%) were male and 46 (46.5%) were female, with an average age of 60 years and stage IV as the most prevalent clinical stage at the beginning of the compassionate use program. A total of 48 patients (48.5%) had partial response; 26 (26.3%), stable disease; 4 (4%), complete response; and 16 (16.2%), progression; and 5 (5%) were nonevaluable. We found a median progression-free survival of 5 months (95% CI, 4.3 to 5.7 months). The most common grade 3 or 4 adverse reactions were fatigue (14%) and diarrhea (13%). CONCLUSION: Nintedanib, as part of a chemotherapy regimen, is an effective option with an acceptable toxicity profile for advanced lung adenocarcinoma after first-line treatment progression.
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Adenocarcinoma del Pulmón , Carcinoma de Pulmón de Células no Pequeñas , Neoplasias Pulmonares , Adenocarcinoma del Pulmón/tratamiento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Carcinoma de Pulmón de Células no Pequeñas/tratamiento farmacológico , Docetaxel/efectos adversos , Femenino , Humanos , Indoles , Pulmón , Neoplasias Pulmonares/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Taxoides/efectos adversos , Resultado del TratamientoRESUMEN
OBJECTIVE: Because human T-cell lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) may occur in some children infected with HTLV-1, we sought to determine the prevalence of neurologic abnormalities and any associations of neurologic abnormalities with infective dermatitis in these children. STUDY DESIGN: We enrolled 58 children infected with HTLV-1 and 42 uninfected children (ages 3 to 17) of mothers infected with HTLV-1 in a family study in Lima, Peru. We obtained medical and developmental histories, surveyed current neurologic symptoms, and conducted a standardized neurologic examination without prior knowledge of HTLV-1 status. RESULTS: HTLV-1 infection was associated with reported symptoms of lower extremity weakness/fatigue (odds ratio [OR], 6.1; confidence interval [CI], 0.7 to 281), lumbar pain (OR, 1.7; 95% CI, 0.4 to 8), and paresthesia/dysesthesia (OR, 2.6; CI, 0.6 to 15.8). HTLV-1 infection was associated with lower-extremity hyperreflexia (OR, 3.1; CI, 0.8 to 14.2), ankle clonus (OR, 5.0; CI, 1.0 to 48.3), and extensor plantar reflex (OR undefined; P = .2). Among children infected with HTLV-1, a history of infective dermatitis was associated with weakness (OR, 2.7; CI, 0.3 to 33), lumbar pain (OR, 1.3; CI, 0.2 to 8), paresthesia/dysesthesia (OR, 2.9; CI, 0.5 to 20), and urinary disturbances (OR, 5.7; CI, 0.5 to 290). CONCLUSIONS: Abnormal neurologic findings were common in Peruvian children infected with HTLV-1, and several findings were co-prevalent with infective dermatitis. Pediatricians should monitor children infected with HTLV-1 for neurologic abnormalities.
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Infecciones por HTLV-I/epidemiología , Virus Linfotrópico T Tipo 1 Humano/aislamiento & purificación , Paraparesia/epidemiología , Enfermedades de la Médula Espinal/epidemiología , Adolescente , Distribución por Edad , Edad de Inicio , Estudios de Casos y Controles , Niño , Preescolar , Estudios de Cohortes , Intervalos de Confianza , Femenino , Infecciones por HTLV-I/diagnóstico , Infecciones por HTLV-I/transmisión , Humanos , Transmisión Vertical de Enfermedad Infecciosa , Masculino , Examen Neurológico , Oportunidad Relativa , Paraparesia/diagnóstico , Paraparesia Espástica Tropical/diagnóstico , Paraparesia Espástica Tropical/epidemiología , Perú/epidemiología , Prevalencia , Probabilidad , Medición de Riesgo , Índice de Severidad de la Enfermedad , Distribución por Sexo , Enfermedades de la Médula Espinal/diagnóstico , Factores de Tiempo , Trastornos Urinarios/diagnóstico , Trastornos Urinarios/epidemiologíaRESUMEN
INTRODUCTION: The congenital myasthenic syndromes are a heterogeneous group of genetic disorders characterized by an abnormal synaptic transmission in the neuromuscular plate. REPORT: We present a two-year-old patient, male, with hypotonia, palpebral ptosis, and proximal symmetric weakness with a neonatal onset that motivated several and prolonged hospitalizations for pneumonia and respiratory failure. From two years of age, the parents noticed that the facial and general weakness worsened in the afternoons and with repeated or prolonged physical activity. The physical examination showed palpebral ptosis, predominantly proximal weakness, and fatigability with sustained muscular effort. The electromyography showed a 27% decrement in the Compound Muscular Action Potential and the case-parents genetic study showed compound heterozygosity with the transmission of two different mutations in the rapsyn gene from both parents. The patient received pyridostigmine with great improvement, achieving optimal performance in school, sports, and daily life activities. CONCLUSIONS: Weakness and fatigability with neonatal onset, mainly affecting the muscles with brain stem innervation and the decrement greater than 10 percent in the Compound Muscular Action Potential in the electromyographic studies, should make us suspect in a congenital myasthenic syndrome. We review the literature and key clinical points to establish a timely diagnosis and effective treatment in some of these syndromes.
INTRODUCCIÓN: Los síndromes miasténicos congénitos son un grupo heterogéneo de desórdenes genéticos, caracterizados por una transmisión sináptica anormal en la placa neuromuscular. REPORTE: Presentamos el caso de un paciente de dos años, varón, con hipotonía, ptosis palpebral y debilidad simétrica y de predominio proximal, caracte-rísticas que aparecieron desde el nacimiento y que motivaron varias hospitalizaciones por neumonía e insuficiencia ventilatoria. Desde el inicio de la deambulación a los dos años, los padres notaron que la debilidad empeoraba por las tardes y con la actividad física repetida o prolongada. El examen físico a los dos años mostró ptosis palpebral, debilidad de predominio proximal y fatigabilidad con el esfuerzo sostenido. La electro-miografía evidenció decremento del 27% en el potencial de acción muscular compuesto. El análisis de tríos mostró heterocigosis compuesta por transmisión de dos mutaciones diferentes en el gen de rapsina, una ya conocida procedente del padre y la otra no reportada previa-mente, procedente de la madre. El paciente recibió piridostigmina obteniendo mejoría inmediata y logrando un desempeño óptimo en activi-dades escolares, deportivas y de la vida cotidiana. A la fecha, no ha presentado nuevos episodios de insuficiencia ventilatoria. CONCLUSIONES: La debilidad de inicio neonatal y la fatigabilidad o agotamiento con el esfuerzo sostenido, con afección principalmente de los músculos con inervación troncal y con un decremento mayor al 10% en el potencial de acción muscular compuesto en la electromiografía, deben hacer sospechar en un síndrome miasténico congénito. Se revisan los puntos clínicos clave que permiten establecer el diagnóstico oportuno y las opciones de tratamiento efectivo para algunos de estos síndromes.
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Proteínas Musculares/genética , Síndromes Miasténicos Congénitos/diagnóstico , Bromuro de Piridostigmina/administración & dosificación , Preescolar , Inhibidores de la Colinesterasa/administración & dosificación , Humanos , Masculino , Mutación , Síndromes Miasténicos Congénitos/tratamiento farmacológico , Síndromes Miasténicos Congénitos/genéticaRESUMEN
The aim of this study was to describe the neurological consultation and baseline characteristics of children with cerebral palsy (CP). The clinical records of children with CP attending an external consultation of the Neuropediatric department of Hospital Nacional Cayetano Heredia between 2011 and 2012 were assessed in this retrospective descriptive study. A total of 81 children were included: 53.1% were boys. Spastic CP was the most frequent (72.8%), hypoxic-isquemic encephalopathy (28.1%) and cerebral malformations (28.1%) were the main causes in term newborn. The average age at the time of diagnosis was 4.1 ± 3.2 years; epilepsy was the most frequent reason for neuropediatric consultation, and 58% were admitted to the hospital at least once. The waiting period to be seen by a physical therapist was around 2 months (interquartile range = 0.8-9). We reached the conclusion that CP was delayed, and the waiting period to access specialized care was prolonged. Protocols and increased efficiency are required to provide adequate medical care to children with CP.
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Parálisis Cerebral/fisiopatología , Parálisis Cerebral/diagnóstico , Niño , Preescolar , Diagnóstico Tardío , Epilepsia/diagnóstico , Epilepsia/fisiopatología , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Perú , Derivación y Consulta , Estudios RetrospectivosRESUMEN
Antecedentes: La incidencia de catarata en niños es 1/6-10 000 nacimientos. El uso de lente intraocular (LIO) es controversial. Ob-jetivo: Determinar el método de corrección de agudeza visual (AV) más efectivo utiliza-do en pacientes pediátricos operados de catarata en la Consulta Externa de Oftalmo-logía del Hospital San Felipe de enero 2001- enero 2017. Pacientes y métodos: Se realizó un estudio observacional cuantitati-vo, descriptivo, transversal y retrospectivo en la Consulta Externa de Oftalmología del Hospital San Felipe, Hospital de Referencia Nacional. El universo y la muestra corres-pondió a 90 ojos de 71 pacientes pediátricos con diagnóstico de catarata en la consulta externa de oftalmología del Hospital San Felipe durante al periodo enero 2001-enero 2017. Se incluyó todo ojo de paciente de 6 meses a 14 años de edad operado de cata-rata en Hospital San Felipe. Se excluyó todo ojo de paciente pediátrico con diagnóstico de catarata que tuviese otra condición que comprometiera su AV (desprendimiento de retina, cicatriz macular, atrofia óptica, leuco-ma corneal) y/o que no hubiese sido interve-nido quirúrgicamente por la catarata. Resul-tados: Se encontraron 90 ojos operados: 40.45% cataratas congénitas y 35.96% trau-máticas. La agudeza visual previa de cuentaVisual results of cataract surgery in children at Hospital san Felipe January 2001-january 2017Resultado visual de la cirugía de catarata en niños del Hospital San Felipe Enero 2001-Enero 2017dedos percepción de luz (CD-PL) en un 71.1% de los casos. Al 47.8% de los casos se practicó EEC+LIO CP. Complicaciones transoperatorias: ruptura de cápsula poste-rior (15.5%) y 1 luxación de cristalino a cámara vítrea. La agudeza visual obtenida posterior a la cirugía entre 20/20 -20/40 se obtuvo con lente intraocular (52.4%). Con-clusiones: La mejor AV se obtuvo con LIO...(AU)
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Humanos , Masculino , Femenino , Lactante , Preescolar , Niño , Adolescente , Extracción de Catarata , Agudeza Visual , Seudofaquia , Procedimientos Quirúrgicos OftalmológicosRESUMEN
Resumen Introducción: el desarrollo constante de estrategias locales de prevención, promoción, acciones curativas y de rehabilitación para personas con Accidente Cerebrovascular, permite reducir la letalidad, discapacidad y complicaciones. OBJETIVO: elaborar un Plan de Intervención Integral para la atención post hospitalaria de pacientes con Accidente Cerebrovascular en un Centro de Salud Familiar chileno. MÉTODOS: para diseñar el plan fue necesario elaborar un diagnóstico situacional, identificar los factores de riesgo, y caracterizar la población durante el periodo del 2009-2013. Luego junto a directivos, referentes técnicos y Equipo de Salud Cardiovascular se identificaron las estrategias de educación, cuidado y tratamiento que conformaron el plan. Resultados: entre un 40% a un 50% de las personas con Accidente Cerebrovascular presentan secuelas que requieren algún grado de apoyo, es por ello que el Plan de Intervención Integral integra diferentes profesionales de la salud, los que a través de terapias y técnicas colaboran para conseguir una situación funcional, familiar y social lo más próxima a la que el paciente tenía previo al accidente. CONCLUSIÓNES: un enfoque integral e interdisciplinario desde la atención primaria permite disminuir las complicaciones prevenibles, apoyar e integrar al paciente y a su familia en el proceso de tratamiento, disminuir el grado de discapacidad, optimizar los resultados funcionales y la reintegración social
Abstract Introduction: The constant development of local strategies for prevention, promotion, curative and rehabilitation actions for people with Vascular Brain Accident, can reduce lethality, disability and complications. Objective: to develop an Integral Intervention Plan for the post-hospital care of patients with Vascular Brain Accident in a Chilean Family Health Center. METHODS: to design the plan it was necessary to develop a situational diagnosis, identify the risk factors, and characterize the population during the period 2009-2013. Next, along with managers, technical referents and cardiovascular health team, the education, care and treatment strategies that shaped the plan were identified. Results: between 40% and 50% of people with Vascular Brain Accident have sequelae that require some degree of support, which is why the Integral Intervention Plan integrates different health professionals, who through therapies and techniques collaborate To achieve a functional, family and social situation as close as the patient had before the accident. CONCLUSIONS: a comprehensive and interdisciplinary approach from primary care allows reducing preventable complications, supporting and integrating the patient and his family in the treatment process, reducing the degree of disability, optimizing functional outcomes and social reintegration.
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Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anciano , Factores de Riesgo , Accidente Cerebrovascular , Atención Hospitalaria , Atención Primaria de Salud , Terapéutica , Estrategias de Salud Locales , Salud de la Familia , Estrategias de SaludRESUMEN
Resumen: Objetivo: Analizar los indicadores de salud, a partir de los resultados obtenidos por los establecimientos de salud en Chile, durante el periodo 2010-2014. Material y métodos: Se realiza un estudio descriptivo y se aplica correspondencias múltiples. Se utilizan 75 indicadores básicos de salud publicados por el Ministerio de Salud: indicadores demográficos, de estadísticas vitales, de riesgos para la salud y de acceso a la atención. A cada indicador se asignó un resultado esperado y se compararon con el resultado real obtenido, por región y país. Resultados: Los indicadores de riesgos para la salud se caracterizaron principalmente porque en un 50% y más de las regiones analizadas obtuvieron un resultado similar al resultado esperado. A diferencia de los indicadores de estadísticas vitales, en donde un 49% y menos de las regiones tuvieron un resultado similar al esperado en el mismo periodo. A la vez, los indicadores demográficos se asociaron a un resultado esperado positivo y al contrario los indicadores de acceso a la atención se asociaron a un resultado esperado negativo, en el periodo analizado. Conclusiones: Debido al impacto en la población, todo indicador de gestión en salud debería ser considerado por los directivos de las redes sanitarias para guiar las estrategias a implementar en los establecimientos que conforman las redes asistenciales de salud pública.
Abstract: Objective: Analyze health indicators, based on the results obtained by health establishments in Chile, during the period 2010-2014. Methods and material: A descriptive study is realized and multiple correspondence is applied. 75 basic health indicators published by the Ministry of Health, demographic indicators, vital statistics, health risks and access to care are used. Each indicator was assigned an expected result and compared with the actual result obtained, by region and country. Results: Health risk indicators were characterized mainly because in 50% and more of the analyzed regions they obtained a result similar to the expected result. Unlike the vital statistics indicators, where 49% and less of the regions had a result similar to that expected in the same period. At the same time, the demographic indicators were associated with a positive expected result and, on the contrary, the indicators of access to care were associated with a negative expected result in the period analyzed. Conclusions: Due to the impact on the population, any indicator of health management should be considered by health network managers to guide the strategies to be implemented in the establishments that conform public health care networks.
Resumo: Objetivo: Analisar indicadores de saúde, com base nos resultados obtidos pelas unidades de saúde no Chile, durante o período 2010-2014. Materiais e métodos: Um estudo descritivo é realizado e múltiplas correspondências sâo aplicadas. Sâo utilizados 75 indicadores básicos de saúde publicados pelo Ministério da Saúde, indicadores demográficos, estatísticas vitáis, riscos para a saúde e acesso aos cuidados. Cada indicador foi atribuido um resultado esperado e comparado com o resultado real obtido, por regiâo e país. Resultados: Os indicadores de risco para a saúde foram caracterizados principalmente porque, em 50% ou mais das regioes analisadas, obtiveram resultado semelhante ao esperado. Diferentemente dos indicadores estatísticos vitais, onde 49% e menos das regioes tiveram resultado semelhante ao esperado no mesmo período. Ao mesmo tempo, os indicadores demográficos foram associados an um resultado esperado positivo e, ao contrário, os indicadores de acesso ao atendimento foram associados an um resultado esperado negativo no período analisado. Conclusao: Devido ao impacto na populaçâo, qualquer indicador de gestao em saúde deve ser considerado pelos gestores das redes de saúde para orientar as estratégias a serem implementadas nos estabelecimentos que compoem as redes públicas de saúde.
Résumé: Objectif: Analyser les indicateurs de santé sur la base des résultats obtenus par les établissements de santé au Chili durant la période 2010-2014. Matériel et méthodes: L'étude est descriptive et inclut de plus l''analyse des correspondances multiples en utilisant 75 indicateurs sanitaires de base publiés par le Ministère de la Santé: indicateurs démographiques, statistiques de l'état civil, risques pour la santé et accès aux soins. Un résultat attendu a été attribué à chaque indicateur et comparé au résultat réel obtenu, par région et par pays. Résultats: Les indicateurs de risques pour la santé se sont caractérisés principalement par le fait qu'ils ont obtenu un résultat similaire à celui attendu dans 50% ou plus des régions analysées. Par contre, les indicateurs de statistiques de l'état civil ont donné, pour la même période, un résultat similaire à celui attendu dans 49% ou moins des régions. Dans le même temps, les indicateurs démographiques se sont associés à un résultat attendu positif et, au contraire, les indicateurs d'accès aux soins se sont associés à un résultat attendu négatif pour la période analysée. Conclusions: En raison de l'impact sur la population, tout indicateur de gestion de la santé devrait être pris en compte par les gestionnaires de réseaux de santé afin d'orienter les stratégies à mettre en œuvre dans les établissements constituant les réseaux de soins de santé publique.
RESUMEN
Resumen Objetivo: Analizar el riesgo de fractura osteoporótica y factores de riesgo asociados en mujeres postmenopáusicas bajo control en un Centro de Atención Primaria de Salud. Material y Método: Estudio cuantitativo de corte transversal, selección de muestra de 197 mujeres entre 50 y 64 años, se calculó su riesgo de fractura mediante FRAX, una herramienta predictiva de fractura que incorpora factores de riesgo, y permite determinar la probabilidad a diez años de sufrir riesgo de fractura osteoporótica mayor y de cadera. Resultados: Un promedio de 3,46% ± 3,18% para riesgo de fractura mayor y de 0,84% ± 1,30% para riesgo de fractura de cadera. La categorización del riesgo indicó un 3% con alto riesgo para fractura mayor y un 11,2% alto riesgo para fractura de cadera. La mayor prevalencia de factores de riesgo fueron la osteoporosis secundaria, fumadora activa y fractura previa. Conclusiones: La situación de riesgo de fractura y los factores de riesgo más prevalentes observados, requiere establecer intervenciones preventivas desde el nivel de atención primaria de salud.
Abstract Objective: To analyze the risk of osteoporotic fracture and associated risk factors in postmenopausal women under control in a Primary Health Care Center. Material and Method: A cross-sectional quantitative study, sample selection of 197 women between 50 and 64 years of age, their risk of fracture was calculated using FRAX, a predictive tool for fracture that incorporates risk factors, and allows the probability to be determined ten years Risk of major osteoporotic fracture and hip fracture. Results: A mean of 3.46% ± 3.18% for greater fracture risk and 0.84% ± 1.30% for hip fracture risk. Risk categorization indicated 3% with high risk for major fracture and 11.2% high risk for hip fracture. The highest prevalence of risk factors was secondary osteoporosis, active smoking, and previous fracture. Conclusions: The situation of risk of fracture and the most prevalent risk factors observed requires establishing preventive interventions from the level of primary health care.
Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Anciano , Osteoporosis Posmenopáusica/etiología , Fracturas Osteoporóticas/diagnóstico , Atención Primaria de Salud , Osteoporosis Posmenopáusica/epidemiología , ChileRESUMEN
In order to describe the characteristics of traumatic brain injury (TEC) in children seen at the Cayetano Heredia National Hospital from 2004 to 2011, a case study was conducted. 316, 14 year-old minors were included, the median age was 4 ± 3 years old. 63.9% were male. The main causes of TEC were falls (80.1%) and car accidents (10.4%). 42.4% (134/316) occurred in the afternoon. There was a higher incidence of falls at home (59.2%). The epidural hematoma (26.9%) was the most common intracraneal injury. Intensive care management and neurosurgical interventions were required in 15.8 and 14.2% of cases respectively. It is concluded that domestic falls were the main cause of accidents for TEC and epidural hematoma the most common intracranial injury where children under 5 were the most affected.
Asunto(s)
Lesiones Encefálicas/epidemiología , Adolescente , Niño , Preescolar , Femenino , Hospitales , Humanos , Masculino , Perú , Estudios Retrospectivos , Factores de TiempoRESUMEN
La epilepsia es la principal causa de consulta neurológica en niños peruanos. Sin embargo, hay escasa información sobre sus características clínicas y epidemiológicas. Objetivos: Presentar las características clínicas de los niños epilépticos atendidos en el Hospital Cayetano Heredia, entre los años 2010 y 2016. Material y métodos: Se realizó un estudio observacional descriptivo, retrospectivo, tipo serie de casos, basado en las historias clìnicas de en niños menores de 14 años con diagnóstico de epilepsia, seguimiento clínico, registro electroencefalogràfico y neuroimagenes. Resultados: Se incluyeron 193 pacientes. El 47,2% (91/193) presentaron su primera crisis epiléptica antes del año de edad, cuya etiología fue secundaria en el 59,3% (54/91), destacando los factores perinatales y las malformaciones cerebrales. La etiología primaria fue más frecuente en los niños que iniciaron las crisis después del año de edad. Las crisis generalizadas se presentaron en 64,2% (124/193) sin diferencias por grupos etarios. El 69,9% (135/193) fueron controlados con un solo fármaco, en tanto que el 15% (29/193) fueron refractarios al tratamiento. La comorbilidad ocurrió en el 68,4% (132/193), siendo frecuentes el retraso del desarrollo psicomotor, el retardo mental y la parálisis cerebral. Conclusiones: La mayoría de los niños presentaron su primera crisis antes del año de edad, generalmente de causa secundaria. En los niños mayores fue prevalente la etiología primaria. La mayoría fueron controlados con monoterapia, pero se registró un porcentaje de refractariedad al tratamiento. La comorbilidad fue muy frecuente.
Epilepsy is the main cause of neurological clinical visits in Peruvian children. However, in our country, there is little information on its clinical and epidemiological characterizes. Objectives: To describe the clinical characteristics of children with epilepsy seen at the Cayetano Heredia Hospital, between 2010 and 2016. Material and Methods: A descriptive retrospective observational study was carried out, based on the clinical records of children under 14 years old with diagnosis of epilepsy, with clinical follow-up, electroencephalography and neuroimaging. Results: One hundred ninety-three patients were included. In 47.2% (91/193), the first seizure occurred before the one year of age; the etiology was secondary in 59.3% (54/91), with the main causes being perinatal events and cerebral malformations. Primary etiologies were more frequent in the children who started haviing seizures after one year of age. Generalized seizures ocurred in 64.2% (124/193) without differences by age groups. In 69.9% (135/193) seizures were controlled with a single drug while 15% (29/193) were refractory to treatment. Comorbidity occurred in 68,4% (132/193), with delays in psychomotor development, intellectual disability and cerebral palsy being frequent. Conclusions: Most children had their first seizures before the first year of age, usually with a secondary cause. In older children, the primary epilepsies were more prevalent. Monotherapy controlled the majority of children, but a percentage of refractoriness to the treatment was registered. Comorbidities were very frequent.