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1.
Clin Transl Oncol ; 26(2): 532-537, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37505371

RESUMO

INTRODUCTION: Systemic therapy of patients with metastatic renal cell carcinoma (mRCC) has improved in the past years, with the advent of new immunotherapy-based combinations as a standard treatment option for first-line therapy. Nevertheless, particularly in good-risk patients by IMDC criteria, tyrosine-kinase inhibitors (TKI) may remain as an option for some patients. We reviewed our experience with TKI as first-line therapy for mRCC patients, trying to identify subgroups of patients that may still benefit from this strategy. MATERIAL AND METHODS: All patients with mRCC treated with first-line TKI, and adequate follow-up, in University Hospital La Paz (Madrid, Spain) between 2007 and 2020 were analyzed. Patients treated inside a clinical trial were excluded from this analysis. RESULTS: A total of 90 patients treated with first-line TKI were included. Regarding IMDC criteria, 33 patients (36.7%) were good-risk, 41 patients (45.5%) intermediate-risk, and 16 patients (17.8%) poor-risk. With a median follow-up of 49 months, the median overall survival (OS) for good, intermediate, and poor-risk patients was 54, 24, and 16 months (p = 0.004). When intermediate-risk was divided into patients with 1 or 2 risk factors, differences in OS were also statistically significant: patients with 1 risk factor had a median OS of 33 months, while patients with 2 risk factors had a median OS of 16 months, the same as poor-risk patients (p = 0.003). In the multivariate analysis, trying to find out which of the IMDC factors had a more remarkable weight in the prognosis of the patients, both ECOG and hemoglobin levels by themselves were significantly associated with OS. CONCLUSION: In our group of patients, survival outcomes were different among patients with intermediate-risk with 1 or 2 risk factors by IMDC criteria. These could help select patients that may benefit from first-line treatment with a TKI, particularly in settings with difficult access to novel therapies, such as immunotherapy-based combinations.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Humanos , Carcinoma de Células Renais/patologia , Neoplasias Renais/patologia , Prognóstico , Inibidores de Proteínas Quinases/uso terapêutico , Estudos Retrospectivos , Tirosina/uso terapêutico
2.
Front Pharmacol ; 14: 1175737, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37251329

RESUMO

Pharmacogenomics (PGx) is considered an emergent field in developing countries. Research on PGx in the Latin American and the Caribbean (LAC) region remains scarce, with limited information in some populations. Thus, extrapolations are complicated, especially in mixed populations. In this paper, we reviewed and analyzed pharmacogenomic knowledge among the LAC scientific and clinical community and examined barriers to clinical application. We performed a search for publications and clinical trials in the field worldwide and evaluated the contribution of LAC. Next, we conducted a regional structured survey that evaluated a list of 14 potential barriers to the clinical implementation of biomarkers based on their importance. In addition, a paired list of 54 genes/drugs was analyzed to determine an association between biomarkers and response to genomic medicine. This survey was compared to a previous survey performed in 2014 to assess progress in the region. The search results indicated that Latin American and Caribbean countries have contributed 3.44% of the total publications and 2.45% of the PGx-related clinical trials worldwide thus far. A total of 106 professionals from 17 countries answered the survey. Six major groups of barriers were identified. Despite the region's continuous efforts in the last decade, the primary barrier to PGx implementation in LAC remains the same, the "need for guidelines, processes, and protocols for the clinical application of pharmacogenetics/pharmacogenomics". Cost-effectiveness issues are considered critical factors in the region. Items related to the reluctance of clinicians are currently less relevant. Based on the survey results, the highest ranked (96%-99%) gene/drug pairs perceived as important were CYP2D6/tamoxifen, CYP3A5/tacrolimus, CYP2D6/opioids, DPYD/fluoropyrimidines, TMPT/thiopurines, CYP2D6/tricyclic antidepressants, CYP2C19/tricyclic antidepressants, NUDT15/thiopurines, CYP2B6/efavirenz, and CYP2C19/clopidogrel. In conclusion, although the global contribution of LAC countries remains low in the PGx field, a relevant improvement has been observed in the region. The perception of the usefulness of PGx tests in biomedical community has drastically changed, raising awareness among physicians, which suggests a promising future in the clinical applications of PGx in LAC.

4.
Farm Hosp ; 46(3): 116-120, 2022 03 21.
Artigo em Inglês | MEDLINE | ID: mdl-36183204

RESUMO

OBJECTIVE: QT interval prolongation can increase patients' hospital stay and  mortality rate. This study aims to determine the incidence of drug-induced QT  interval prolongation and establish which QT interval measurement method is  the most appropriate for electrocardiographic monitoring. METHOD: A retrospective observational study was conducted of patients admitted to the Clínica Bíblica Hospital during 2018. The electronic  medical records of patients hospitalized for longer than 48 hours and whose drug regimen included at least one drug potentially able to prolong the  QT interval were reviewed. Manually-measured QT intervals were corrected using Fridericia's and Rautaharju's formulae, while automatically- measured QT intervals were corrected with Bazett's formula. Risk was assessed  using the RISQ-PATH scale. RESULTS: Of the 141 patients analyzed, 23 had arrhythmia as per their clinical  history and 14 suffered a complication during their stay in hospital. A total of  113 (80%) had a high RISQ-PATH score and only 64 were subjected to an  electrocardiogram on admission. Patients received a mean of three potentially  QT interval prolonging drugs. Most of the QT intervals measured automatically  were shorter than those obtained manually. Of all corrections, the longest QTc  interval values were obtained with Bazett's formula, and the shortest with  Rautaharju's formula. None of the patients developed TdP or complex  ventricular tachycardia. CONCLUSIONS: Every effort should be made to implement strategies conducive to more effective monitoring of the QT interval to prevent QT  nterval prolongation related complications in hospitalized patients.


OBJETIVO: La prolongación del intervalo QT puede aumentar la estancia hospitalaria y la tasa de mortalidad de los pacientes. Esta  investigación determina la incidencia de prolongación del intervalo QT debido al  uso de medicamentos y evalúa el método más apropiado para realizar el  monitoreo electrocardiográfico.Método: Se realizó un estudio observacional retrospectivo en pacientes hospitalizados en el Hospital Clínica Bíblica durante el año 2018. Se revisaron los expedientes de los pacientes con hospitalización superior a 48  horas cuya historia clínica incluyera al menos tratamiento con un medicamento que prolongara el intervalo QT y que las medidas manuales del intervalo QT  fueran corregidas con la fórmula Fridericia y Rautaharju, y las medidas  automáticas con la fórmula Bazett. La valoración del riesgo se realizó con la  escala RISQ-PATH. RESULTADOS: De los 141 pacientes analizados, 23 tenían una arritmia previa en  su historia clínica y 14 de ellos sufrieron complicaciones durante la  hospitalización. Un total de 113 (80%) pacientes tenían un valor alto  RISQ­PATH y sólo a 64 se les realizó un electrocardiograma al ingreso. En  promedio, los pacientes recibieron tres medicamentos que aumentaban el  intervalo QT. La mayoría de los QT obtenidos automáticamente fueron más  cortos que aquellos obtenidos en forma manual. De todas las correcciones, los  valores del intervalo QT más largos se obtuvieron con la fórmula de Bazett, y  los más cortos con la fórmula Rautaharju. No ocurrieron eventos como  taquicardia ventricular compleja o torsade de pointes durante el estudio. CONCLUSIONES: Es necesario implementar estrategias que permitan una mejor  monitorización del intervalo QT con el fin de prevenir las complicaciones derivadas en los pacientes hospitalizados.


Assuntos
Síndrome do QT Longo , Proteínas de Ligação a DNA/farmacologia , Eletrocardiografia/métodos , Frequência Cardíaca , Humanos , Tempo de Internação , Síndrome do QT Longo/induzido quimicamente
5.
Pharmacy (Basel) ; 10(4)2022 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-36005935

RESUMO

Currently, metastatic colon cancer is treated with monotherapeutic regimens such as folinic acid, fluorouracil, and oxaliplatin (FOLFOX), capecitabine and oxaliplatin (CapeOX), and leucovorin, fluorouracil, and irinotecan hydrochloride (FOLFIRI). Other treatments include biological therapies and immunotherapy with drugs such as bevacizumab, panitumumab, cetuximab, and pembrolizumab. After the research, it was found that some mutations make those treatments not as effective in all patients. In this bibliographic review, we investigated the pharmacogenetic explanations for how mutations in the genes coding for rat sarcoma virus (RAS) and rapidly accelerated fibrosarcoma (RAF) reduce the effectiveness of these treatments and allow the continued proliferation of tumors. Furthermore, we note that patients with mutations in the dihydropyrimidine dehydrogenase (DPDY) gene usually require lower doses of therapies such as 5-fluorouracyl (5-FU) and capecitabine to avoid severe adverse effects. Some other mutations in the thymidylate synthase gene (TSYM), methylenetetrahydrofolate reductase gene (MTHFR), and ATP binding cassette transporter B (ABCB1 and ABCB2) affect efficacy and security of the treatments. It is important to address the clinical implication of the oncologist in the study of gene mutations than can influence in the antitumoral response and safety of colon cancer treatments.

6.
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1421080

RESUMO

ABSTRACT Introduction: Hereditary spastic paraplegia (HSP) is the term for a group of neurological disorders characterized by progressive spasticity and muscle weakness in the lower limbs. Its etiology is genetic and has been associated with mutations in more than 60 genes. HSP is rare and may be useful in the differential diagnosis of cerebral palsy. Case presentation: 16-year-old male with a diagnosis of HSP due to mutation of the NIPAi gene:c.316G>A (p. Gly106arg), which corresponds to HSP type 6 (SPG6). The patient presented with clinical signs of progressive upper motor neuron syndrome in the lower limbs, such as spasticity, hyperreflexia and paraparesis, associated with focal onset seizures diagnosed at age 11 and successfully treated with valproic acid. Spasticity treatment was complex and included oral baclofen, intraoperative botulinum toxin, physical therapy, and multilevel orthopedic surgery for the management of musculoskeletal deformities. Conclusion: This is a rare case of complex HSP, associated with epilepsy, due to the mutation of the NIPAi gene (SPG6), the most common pathogenic variant within this type of mutation. The present case demonstrates the importance of making an early diagnosis of GSP6 to perform timely interventions in these patients, prevent complications, and avoid a higher level of disability.


RESUMEN Introducción. La paraplejía espástica hereditaria (PEH) es un grupo de trastornos neurológicos caracterizados por espasticidad progresiva y debilidad muscular de miembros inferiores. Su etiología es genética y se ha asociado con mutaciones en más de 60 genes. La PEH es poco frecuente y puede ser útil en el diagnóstico diferencial de la parálisis cerebral. Presentación de caso. Adolescente masculino de 16 años con diagnóstico de PEH por mutación del gen NIPAi: c. 316G>A (p. Gly106arg), correspondiente a una PEH tipo 6 (SPG6). El paciente presentó signos clínicos de síndrome de motoneurona superior progresivos en miembros inferiores como espasticidad, hiperreflexia y paraparesia, asociados a epilepsia de inicio focal diagnosticada a los 11 años y tratada satisfactoriamente con ácido valproico. El manejo de la espasticidad fue complejo e incluyó baclofeno oral, toxina botulínica intraoperatoria, terapia física y cirugía ortopédica multinivel para manejo de deformidades musculoesqueléticas en miembros inferiores. Conclusión. El presente caso demuestra la importancia de realizar un diagnóstico temprano de la SPG6 (variante más común de la PEH) para realizar intervenciones oportunas en estos pacientes, prevenir complicaciones y evitar un mayor nivel de discapacidad.

7.
Acta neurol. colomb ; 37(4): 197-202, oct.-dic. 2021. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1349891

RESUMO

RESUMEN INTRODUCCIÓN: Las lipofuscinosis ceroideas neuronales (CLN) son un grupo de enfermedades neurodegenerativas de inicio generalmente en la infancia, caracterizadas por acumulación intracelular de material de almacenamiento autofluorescente. En la última década se han identificado 14 formas de CLN con mutaciones en 13 genes (CLN1-CLN14), en la CLN9 no se ha identificado aún el gen. Los pacientes con mutaciones en el gen CLN6 localizado en el cromosoma 15q21-23 presentan tres tipos de variantes clínicas: CLN6 infantil tardía, con presentación entre 18 meses a 8 años, las variantes Kufs tipo A y Kufs tipo B de inicio en adolescentes y adultos. REPORTE DE CASO: Se presenta el caso de un paciente con epilepsia generalizada de inicio en la edad adulta, que ingresa a valoración en primera ocasión, con resonancia magnética cerebral con atrofia cortical leve; la enfermedad se inició a los 14 años con déficit cognitivo lentamente progresivo, sin compromiso visual; con posterior identificación genética de una variante patogénica en el gen CLN6, con un conjunto de la variante clínica Kufs tipo A de lipofuscinosis ceroidea neuronal 6 (CLN6). DISCUSIÓN: Este es el primer reporte de CLN6 con variante clínica Kufs tipo A en Colombia. Con el advenimiento de técnicas genéticas se pueden hacer diagnósticos específicos de CLN6, a partir de la clínica y sospecha diagnóstica; utilizando métodos no invasivos.


ABSTRACT INTRODUCTION: Neuronal ceroid lipofuscinosis (CLN) is a group of neurodegenerative diseases generally with onset in childhood, characterized by intracellular accumulation of autofluorescent storage material. In the last decade, 14 forms of CLN have been identified with mutations in 13 genes (CLN1-CLN14), in CLN9 the gene has not yet been identified. Patients with mutations in the CLN6 gene located on chromosome 15q21-23 present three types of clinical variants: late childhood CLN6, presenting between 18 months to 8 years, the Kufs type A and Kufs type B variants of onset in adolescents and adults. CASE REPORT: We present the case of a male patient with generalized epilepsy of onset in adulthood, who was admitted for evaluation the first time, with brain magnetic resonance imaging with mild cortical atrophy; he started at age 14 with slowly progressive cognitive deficit, without visual compromise; with subsequent genetic identification of a pathogenic variant in the CLN6 gene, jointly presenting the clinical variant Kufs type A of neuronal ceroid lipofuscinosis 6 (CLN6). DISCUSSION: This is the first report of CLN6 with Kufs type A clinical variant in Colombia. With the advent of genetic techniques, specific diagnoses of CLN6 can be made, based on the clinical and suspected diagnoses; using non-invasive methods.


Assuntos
Convulsões , Epilepsias Mioclônicas , Epilepsia , Lipofuscinoses Ceroides Neuronais
8.
Andes Pediatr ; 92(4): 602-608, 2021 Aug.
Artigo em Espanhol | MEDLINE | ID: mdl-34652380

RESUMO

INTRODUCTION: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease due to a mutation in the ABCD1 gene that leads to the accumulation of very-long-chain fatty acids in tissues. OBJECTIVE: To describe one patient with severe childhood cerebral X-ALD and to analyze his diagnostic process and the rapeutic possibilities. CLINICAL CASE: 7-year-old male child, with a six-month history of decreased visual acuity, learning difficulties due to lack of attention, reading and writing impairment, and social isolation. On physical examination, he presented bilateral decrease in visual acuity, hypoprosexia, hyperpigmented lesions on the hands, and gait abnormality. Brain MRI showed bilateral white mat ter signal alteration in parieto-occipital regions, with 12 points on the Loes' scale. He also presented adrenal insufficiency, meeting clinical criteria for X-ALD. Very-long-chain fatty acid was elevated, confirming the diagnosis. Three months later, the patient progressed to vision loss and inability to walk. MRI was repeated showing 15 points in the Loes' scale due to extensive structural involvement of the central nervous system, with rapidly progressive deterioration. Therefore, he was not consi dered a candidate for bone marrow transplantation. CONCLUSION: This case of X-ALD was of severe childhood cerebral presentation, with rapid progression. The clinical evaluation and classification of radiological findings according to the Loes' scale should guide the choice of management.


Assuntos
Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP/genética , Adrenoleucodistrofia/genética , Adrenoleucodistrofia/diagnóstico por imagem , Criança , Ácidos Graxos/sangue , Humanos , Imageamento por Ressonância Magnética , Masculino , Mutação
9.
Case reports (Universidad Nacional de Colombia. En línea) ; 7(1): 41-49, Jan.-June 2021. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1278674

RESUMO

ABSTRACT Introduction: The OEIS complex is a group of polymorphic defects with low incidence and prevalence worldwide. It is associated with epigenetic and genetic causes that occur in early blastogenesis, resulting in 4 classic malformations consisting of omphalocele, bladder/cloaca exstrophy, imperforate anus, and spinal cord injuries. Spina bifida, symphysis pubis diastasis and limb abnormalities may also be observed. Case presentation: 7-month-old female patient (at the time of writing this report). The mother was from a rural region of Colombia, and this was her third pregnancy, which was at high risk of obstetric complications. The infant was prenatally diagnosed with a caudal folding defect in the abdominal wall and a lipomeningocele. During birth, bladder exstrophy, imperforate anus and spinal dysraphism were observed, leading to a diagnosis of OEIS complex. Relevant interdisciplinary management was initiated. Conclusions: The OEIS complex is a fetal polymorphic malformation with characteristic signs and defects. Knowledge on its etiopathogenesis, pre- and postnatal diagnosis, genetic counseling and therapeutic approaches are essential to favor the early treatment of different comorbidities, alleviate acute symptoms, reduce multiple comorbidities and improve the patient's quality of life.


RESUMEN Introducción. El complejo OEIS es un conjunto de defectos polimalformativos con baja incidencia y prevalencia mundial que suele estar asociado a causas epigenéticas y genéticas que ocasionan alteración al final de la blastogénesis, dando como resultado la asociación de cuatro malformaciones clásicas: onfalocele, extrofia vesical, ano imperforado y lesiones de la médula espinal. En ocasiones también se presenta espina bffida, diástasis de la sínfisis púbica y anormalidades en las extremidades. Presentación del caso. Paciente femenina de 7 meses de edad (al momento de la elaboración del presente reporte), procedente de un área rural colombiana, producto de una tercera gestación con alto riesgo obstétrico y diagnosticada prenatalmente con un defecto en el plegamiento caudal de la pared abdominal y un lipomeningocele. Durante el nacimiento se evidenció extrofia vesical, ano imperforado y disrafismo espinal, lo que permitió plantear el diagnóstico de complejo OEIS e iniciar manejo interdisciplinario pertinente. Conclusiones. El complejo OEIS es una poli-malformación fetal con signos y anomalías características, en donde los conocimientos sobre la etiopatogenia, el diagnóstico pre y postnatal, el asesoramiento genético y las propuestas terapéuticas son primordiales para favorecer el manejo precoz de las diferentes comorbilidades, aliviar la sintomatologia aguda, reducir múltiples comorbilidades y mejorar la calidad de vida del paciente.

10.
Acta neurol. colomb ; 37(1): 33-38, ene.-mar. 2021. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1248568

RESUMO

RESUMEN La encefalomielitis aguda diseminada (ADEM) es una enfermedad desmielinizante del sistema nervioso central (SNQ, de baja prevalencia, con predominio de presentación en población pediátrica. Describir y revisar la presentación clínica de un paciente con ADEM, su proceso diagnóstico y el manejo terapéutico, de acuerdo con la evidencia disponible. Adolescente masculino de 17 años, sin antecedentes de importancia, con cuadro de cefalea hemicraneal derecha, tipo punzada, de alta intensidad, dos semanas de evolución y posterior compromiso agudo neurológico multifocal con encefalopatía, hemiparesia y diplopía. Se realiza estudio con resonancia de cerebro contrastada que pone en evidencia lesiones hiperintensas a nivel de tallo, cerebelo y ganglios basales. Estas lesiones son asimétricas, unilaterales y agudas y siguen el trayecto vascular de la arteria cerebelosa posteroinferior (PICA), sin restricción a la difusión o cambios en mapa ADC. Inicialmente se sospecha evento cerebrovascular (ECV) y se estudia con angiorresonancia normal, ayudas diagnósticas para causas cardioembólicas y trombofilias negativas. Al considerar lesiones no se sugieren cambios de origen isquémico, pero si desmielinizantes. Se inicia manejo con pulsos de metilprednisolona con resolución de hemiparesia y encefalopatía. En seguimiento a 18 meses, el paciente no ha presentado nuevos eventos clínicos o radiológicos. La ADEM es una patología infrecuente en la edad pediátrica, con un diagnóstico basado en la clínica y hallazgos imagenológicos en resonancia magnética. Su presentación clínica puede ser inespecífica y como en este caso simular enfermedad cerebrovascular, y el tratamiento se basa en inmunomoduladores, principalmente corticoides, con una tasa de recuperación favorable en las series previamente reportadas.


SUMMARY Acute disseminated encephalomyelitis (ADEM) is a low-prevalence demyelinating disease of the central nervous system (CNS) with a predominance of presentation in the pediatric population. To describe and review the clinical presentation of a patient with ADEM, its diagnostic process and therapeutic management according to the available evidence. A 17-year-old male adolescent, with a 2-week history of high-intensity right-sided headache, stitching type, subsequent acute multifocal neurological compromise with encephalopathy, hemiparesis, and diplopia. A contrast-enhanced brain resonance study with evidence of hyperintense lesions at the level of the stem, cerebellum, and basal ganglia, asymmetric, unilateral, acute, following the vascular path of the posteroinferior cerebellar artery (PICA), but without restriction to diffusion or changes on the ADC map, so that an initial suspicion of cerebrovascular event (CVD) is made, studying with normal angioresonance, diagnostic aids for negative cardioembolic causes and thrombophilias. Considering that lesions do not suggest changes of ischemic origin, but if they are demyelinating, management with methylprednisolone pulses with resolution of hemiparesis and encephalopathy is initiated. In the 18-month follow-up, the patient has not presented new clinical or radiological events. ADEM, is an infrequent pathology in pediatric age, with a diagnosis based on the clinic and magnetic resonance imaging findings, its clinical presentation may be nonspecific and as in this case simulate cerebrovascular disease, the treatment is based on immunomodulatory treatment, mainly corticosteroids, with a favorable recovery rate in the previously reported series.


Assuntos
Mobilidade Urbana
11.
Gac Sanit ; 35(4): 355-357, 2021.
Artigo em Espanhol | MEDLINE | ID: mdl-32354565

RESUMO

Objective: Analyze a set of indicators to understand the variability of the evolution and impact of the COVID-19 epidemic in a set of selected countries. Method: Ecological study of a group of countries with more than 200 reported cases. Demographic variables, health expenditure variables, and variables about characteristics of health services were included as explanatory variables. and incidence, mortality and fatality rates have been analyzed as response variables. In addition, a relative fatality index has been created. Data are from international organizations. Spearman's correlation coefficient was used to estimate the magnitude of the associations. Results: Number of tests and of medical professionals are associated with a higher incidence rate. Mortality and case fatality rate are not associated with demographic, health expenditure, or health services variables. Conclusion: Differences suggest a general underestimation of the magnitude of the epidemic. Improvement of case identification and effectiveness of epidemiological surveillance systems is necessary.


Assuntos
COVID-19/mortalidade , Pandemias , SARS-CoV-2 , Distribuição por Idade , COVID-19/economia , Teste para COVID-19/estatística & dados numéricos , Geografia Médica , Saúde Global , Produto Interno Bruto , Gastos em Saúde/estatística & dados numéricos , Número de Leitos em Hospital/estatística & dados numéricos , Humanos , Internacionalidade , Mortalidade/tendências , Médicos/estatística & dados numéricos , Densidade Demográfica , Espanha/epidemiologia
12.
Case reports (Universidad Nacional de Colombia. En línea) ; 6(2): 109-117, July-Dec. 2020. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1149194

RESUMO

ABSTRACT Introduction: Ataxia-telangiectasia (AT) is a neurodegenerative syndrome with low incidence and prevalence worldwide, which is caused by a mutation of the ATM gene. It is an autosomal recessive disorder that is associated with defective cell regeneration and DNA repair mechanisms. It is characterized by progressive cerebellar ataxia, abnormal eye movements, oculocutaneous telangiectasias and immunodeficiency. Early diagnosis is critical to initiate a timely interdisciplinary treatment, improve acute symptoms, and control the multiple comorbidities of the disease. The following is the case of a patient who presented with the aforementioned characteristics and had an adequate response to the established medical treatment. Case presentation: A 7-year-old female patient from Bogotá, who presented clinical signs of global neurodevelopmental delay, cerebellar ataxia, frequent respiratory infections and ocular telangiectasias. Symptoms were associated with elevation of alpha fetoprotein and immunodeficiency, which allowed for a diagnosis of AT and the initiation of a timely interdisciplinary treatment. Conclusion: AT is a chromosomal instability syndrome with characteristic signs and symptoms. It is essential to know the etiopathogenesis, clinical manifestations, diagnostic criteria, and therapeutic options, emphasizing that early detection and clinical suspicion could favor the proper management of the comorbidities and improve the progressive course of the disease.


RESUMEN Introducción. La ataxia-telangiectasia (AT) es un síndrome neurodegenerativo con baja incidencia y prevalencia mundial que es causado por una mutación del gen ATM, es de herencia autosómica recesiva y se asocia a mecanismos defectuosos en la regeneración y reparación del ADN. Este síndrome se caracteriza por la presencia de ataxia cerebelosa progresiva, movimientos oculares anormales, telangiectasias oculocutáneas e inmunodeficiencia. El diagnóstico oportuno de la AT es muy importante para poder iniciar un manejo interdisciplinario temprano, mejorar la sintomatología aguda y controlar las múltiples comorbilidades que causa. A continuación se presenta el caso de una paciente con las características clásicas de esta enfermedad y una adecuada respuesta y evolución al manejo médico instaurado. Presentación de caso. Paciente femenina de 7 años de edad, procedente de Bogotá, quien presentó cuadro clínico inicial de retraso global del neurodesarrollo, ataxia cerebelosa, infecciones respiratorias frecuentes y telangiectasias oculares. La sintomatología se asoció a elevación de alfa fetoproteína e inmunodeficiencia, lo que permitió plantear el diagnóstico de AT e iniciar de manera oportuna el manejo interdisciplinario. Conclusión. La AT es un síndrome de inestabilidad cromosómica con signos clínicos y síntomas característicos, por lo que es primordial conocer la etiopatogenia, el cuadro clínico, los criterios diagnósticos y las propuestas terapéuticas, pues la detección y la sospecha clínica temprana pueden favorecer el manejo precoz de las diferentes comorbilidades y mejorar el curso progresivo.

13.
Rev Bras Enferm ; 73(Suppl 2): e20200673, 2020.
Artigo em Inglês, Português | MEDLINE | ID: mdl-33206820

RESUMO

OBJECTIVE: To analyze the influence of socioeconomic, demographic, epidemiological factors, and the health system structure in the evolution of the COVID-19 pandemic in Brazil. METHODS: Ecological study with variables extracted from databases, having the incidence and mortality by COVID-19 until August 23, 2020, in Brazilian states, as response variables. The magnitude of the associations was estimated using Spearman's correlation coefficient and multiple regression analysis. RESULTS: In the Brazilian states, 59.8% of variation in the incidence of COVID-19 was justified by income inequality, significant home densification, and higher mortality. In the case of mortality, those same variables explained 57.9% of the country's variations in federal units. CONCLUSION: Our results indicate that socioeconomic factors influenced the evolution and impact of COVID-19 in Brazil. Thus, we suggest comprehensive actions to ensure economic conditions and strengthening of health networks for populations with socioeconomic vulnerability.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Pneumonia Viral/epidemiologia , Determinantes Sociais da Saúde , Brasil/epidemiologia , COVID-19 , Infecções por Coronavirus/mortalidade , Estudos Epidemiológicos , Humanos , Incidência , Renda , Pandemias , Pneumonia Viral/mortalidade , Análise de Regressão , SARS-CoV-2 , Fatores Socioeconômicos , Estatísticas não Paramétricas
14.
Rev Panam Salud Publica ; 44: e57, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32973905

RESUMO

OBJECTIVE: To measure the impact generated by the implementation of the pharmacy-driven antimicrobial stewardship program of the Clínica Bíblica Hospital. METHODS: This is a retrospective observational study that evaluates the consumption of antibiotics for the periods before and during implementation of the Clínica Bíblica Hospital antimicrobial stewardship program, calculated by means of defined daily dose per 1 000 patient-days and days of therapy per 1 000 patient-days. In addition, bacterial resistance patterns for the periods 2014-2015 and 2016-2017 were compared. RESULTS: Consumption of most-used antibiotics was calculated, looking for trends that might be associated with the activities implemented by the Clínica Bíblica Hospital antimicrobial stewardship program. Comparing some of the antibiotics with the highest consumption in periods I and II, use of levofloxacin and ceftriaxone showed a decrease of 54.0% (p < 0.001) and 14.6% (p = 0.003), respectively, whereas there was an increase in the use of cefazolin of 4 539.3% (p < 0.001). Regarding percentage of bacterial resistance, in most bacterial isolates no statistically significant changes were observed between the two periods. CONCLUSIONS: A reduction in the overall consumption of antibiotics has been achieved over time, most likely attributable to the antimicrobial stewardship program. However, this trend was not observed for all the antibiotics studied. The pattern of resistance among the commonly isolated microorganisms did not vary greatly between the periods studied, which suggests that either the antimicrobial stewardship program may have prevented an increase in bacterial resistance since its implementation, or that it is too soon to see impact on bacterial resistance.

15.
Rev Panam Salud Publica ; 44, sept. 2020
Artigo em Inglês | PAHO-IRIS | ID: phr-52325

RESUMO

[ABSTRACT]. Objective. To measure the impact generated by the implementation of the pharmacy-driven antimicrobial stewardship program of the Clínica Bíblica Hospital. Methods. This is a retrospective observational study that evaluates the consumption of antibiotics for the periods before and during implementation of the Clínica Bíblica Hospital antimicrobial stewardship program, calculated by means of defined daily dose per 1 000 patient-days and days of therapy per 1 000 patient-days. In addition, bacterial resistance patterns for the periods 2014–2015 and 2016–2017 were compared. Results. Consumption of most-used antibiotics was calculated, looking for trends that might be associated with the activities implemented by the Clínica Bíblica Hospital antimicrobial stewardship program. Comparing some of the antibiotics with the highest consumption in periods I and II, use of levofloxacin and ceftriaxone showed a decrease of 54.0% (p < 0.001) and 14.6% (p = 0.003), respectively, whereas there was an increase in the use of cefazolin of 4 539.3% (p < 0.001). Regarding percentage of bacterial resistance, in most bacterial isolates no statistically significant changes were observed between the two periods. Conclusions. A reduction in the overall consumption of antibiotics has been achieved over time, most likely attributable to the antimicrobial stewardship program. However, this trend was not observed for all the antibiotics studied. The pattern of resistance among the commonly isolated microorganisms did not vary greatly between the periods studied, which suggests that either the antimicrobial stewardship program may have prevented an increase in bacterial resistance since its implementation, or that it is too soon to see impact on bacterial resistance.


[RESUMEN]. Objetivo. Medir el impacto de la ejecución de un programa de optimización del uso de antimicrobianos conducido por la farmacia del Hospital Clínica Bíblica. Métodos. En este estudio retrospectivo y de observación se evaluó el consumo de antibióticos antes y después de la ejecución del programa de optimización del uso de antimicrobianos en el Hospital Clínica Bíblica. El consumo se calculó tomando como base la dosis diaria por 1.000 días-paciente y los días de tratamiento por 1.000 días-paciente. Además, se compararon los perfiles de resistencia bacteriana en los períodos 2014-2015 y 2016-2017. Resultados. Se calculó el consumo de los antibióticos más usados para establecer las tendencias que podrían estar relacionados con las actividades ejecutadas por el programa de optimización del uso de antimicrobianos del Hospital Clínica Bíblica. Se compararon algunos de los antibióticos de mayor consumo en los períodos I y II, el uso de la levofloxacina y la ceftriaxona mostró una disminución de 54,0% (p < 0,001) y 14,6% (p = 0,003), respectivamente, mientras que se evidenció un aumento en el uso de la cefazolina de 4.539,3% (p < 0,001). Con respecto al porcentaje de resistencia bacteriana, no se encontró ningún cambio estadísticamente significativo entre los dos períodos para la mayoría de las cepas bacterianas aisladas. Conclusiones. Con el transcurso del tiempo se ha logrado una disminución en el consumo de antibióticos en general, probablemente relacionada con el programa de optimización del uso de antimicrobianos. Sin embargo, esta tendencia no se observó en todos los antimicrobianos analizados. No se evidenció una variación significativa en los patrones de resistencia entre los microorganismos aislados comúnmente entre los períodos comparados, lo que puede significar dos cosas: que el programa de optimización del uso de antimicrobianos podría haber evitado un aumento de resistencia bacteriana desde que se puso en marcha o que es demasiado pronto para que se evidencie un impacto en la resistencia bacteriana.


[RESUMO]. Objetivo. Mensurar o impacto da implantação de um programa de gerenciamento do uso de antimicrobianos por profissionais farmacêuticos em um hospital particular. Métodos. Trata-se de um estudo observacional retrospectivo para avaliar o uso de antibióticos no período anterior e posterior à implantação do programa de gerenciamento do uso de antimicrobianos no Hospital Bíblica Clínica, em San José, Costa Rica. O consumo dos medicamentos foi calculado com base na dose diária definida por 1.000 pacientes-dia e dias de tratamento por 1.000 pacientes-dia. Foi realizada uma comparação dos padrões de resistência bacteriana entre os períodos 2014–2015 e 2016–2017. Resultados. O consumo dos antibióticos mais utilizados foi calculado visando identificar possíveis tendências associadas às ações do programa de gerenciamento do uso de antimicrobianos implantado no hospital. A comparação do consumo de alguns dos antibióticos mais utilizados no primeiro e no segundo períodos considerados apontou uma redução de 54,0% no uso de levofloxacina (p < 0,001) e 14,6% no uso de ceftriaxona (p = 0,003), com um aumento de 4.539,3% no uso de cefazolina (p < 0,001). Com relação à resistência bacteriana, não se observou variação estatisticamente significativa na maioria dos isolados bacterianos entre os dois períodos. Conclusões. Houve redução no consumo de antibióticos em geral, provavelmente atribuível ao programa de gerenciamento do uso de antimicrobianos. Porém, esta mesma tendência não foi observada para todos os antibióticos estudados. Não houve variação importante no padrão da resistência dos microrganismos mais frequentemente isolados entre os períodos estudados. Isso indica que o programa de gerenciamento do uso de antimicrobianos implantado possivelmente evitou o aumento da resistência bacteriana ou que é ainda muito cedo para se observar o impacto na resistência bacteriana.


Assuntos
Gestão de Antimicrobianos , Anti-Infecciosos , Uso de Medicamentos , Resistência Microbiana a Medicamentos , Costa Rica , Gestão de Antimicrobianos , Anti-Infecciosos , Uso de Medicamentos , Resistência Microbiana a Medicamentos , Gestão de Antimicrobianos , Anti-Infecciosos , Resistência Microbiana a Medicamentos
16.
Rev Saude Publica ; 54: 39, 2020.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32321056

RESUMO

OBJECTIVE: To examine and map the consequences of chronic pain in adulthood. METHOD: Documents addressing the impact of chronic pain on the psychological and social spheres of people suffering from chronic pain, published in Spanish and English between 2013 and 2018, were included. Those who addressed pharmacological treatments, chronic pain resulting from surgical interventions or who did not have access to the full text were excluded. Finally, 28 documents from the 485 reviewed were included. RESULTS: Studies show that pain is related to high rates of limitation in daily activities, sleep disorders and anxiety-depression spectrum disorders. People in pain have more problems to get the workday done and to maintain social relationships. Chronic pain is also associated with worse family functioning. CONCLUSIONS: This review shows that limitations in the ability to perform activities of daily living, sleep, psychological health, social and work resources and family functioning are lines of interest in published articles. However, knowledge gaps are detected in areas such as the influence of having suffered pain in childhood or adolescence, the consequences of non-fulfillment of working hours and gender inequalities.


Assuntos
Dor Crônica/psicologia , Atividades Cotidianas/psicologia , Adolescente , Adulto , Idoso , Ansiedade/psicologia , Depressão/psicologia , Relações Familiares/psicologia , Humanos , Pessoa de Meia-Idade , Transtornos do Sono-Vigília/psicologia , Adulto Jovem
17.
Gac Sanit ; 34(3): 261-267, 2020.
Artigo em Espanhol | MEDLINE | ID: mdl-30554737

RESUMO

OBJECTIVE: To conduct an assessment of migrant people regarding their access to the health system following entry into force of Royal Decree-Law 16/2012 along with the impact of economic cuts on such access. METHOD: Qualitative phenomenological study with semi-structured interviews, conducted in Andalusia (Spain), in two phases (2009-2010 and 2012-2013), with 36 participants. The sample was segmented by length of stay, nationality and area of residence. The nationalities of origin are Bolivia, Morocco and Romania. RESULTS: Elements facilitating access in both periods: regular administrative situation, possession of Individual Health Card, knowledge of the language, social networks and information. The results show differences in access to health care for migrants before and after the enforcement of the RDL 16/2012, within austerity policies. In the second period, access barriers such as waiting times or incompatibility of schedules are aggravated and the socio-economic and administrative conditions of participants worsen. CONCLUSIONS: The design of policies, economic and regulatory health care, should take into account barriers and facilitators of access as fundamental main points of health protection for migrants and, therefore, for the general population.


Assuntos
Recessão Econômica , Política de Saúde , Acessibilidade aos Serviços de Saúde/economia , Alocação de Recursos/legislação & jurisprudência , Direito à Saúde/legislação & jurisprudência , Migrantes/psicologia , Adulto , Bolívia/etnologia , Feminino , Acessibilidade aos Serviços de Saúde/legislação & jurisprudência , Humanos , Entrevistas como Assunto , Masculino , Marrocos/etnologia , Programas Nacionais de Saúde/economia , Programas Nacionais de Saúde/legislação & jurisprudência , Pesquisa Qualitativa , Romênia/etnologia , Determinantes Sociais da Saúde , Espanha , Migrantes/legislação & jurisprudência , Migrantes/estatística & dados numéricos
18.
Rev. bras. enferm ; Rev. bras. enferm;73(supl.2): e20200673, 2020. tab
Artigo em Inglês | LILACS-Express | LILACS, BDENF - Enfermagem | ID: biblio-1137599

RESUMO

ABSTRACT Objective: To analyze the influence of socioeconomic, demographic, epidemiological factors, and the health system structure in the evolution of the COVID-19 pandemic in Brazil. Methods: Ecological study with variables extracted from databases, having the incidence and mortality by COVID-19 until August 23, 2020, in Brazilian states, as response variables. The magnitude of the associations was estimated using Spearman's correlation coefficient and multiple regression analysis. Results: In the Brazilian states, 59.8% of variation in the incidence of COVID-19 was justified by income inequality, significant home densification, and higher mortality. In the case of mortality, those same variables explained 57.9% of the country's variations in federal units. Conclusion: Our results indicate that socioeconomic factors influenced the evolution and impact of COVID-19 in Brazil. Thus, we suggest comprehensive actions to ensure economic conditions and strengthening of health networks for populations with socioeconomic vulnerability.


RESUMEN Objetivo: Analizar la influencia de factores socioeconómicos, demográficos, epidemiológicos y estructura del sistema de salud en la evolución del COVID-19 en Brasil. Métodos: Estudio ecológico con variables extraídas de bancos de datos, teniendo la incidencia y mortalidad por COVID-19 hasta 23 de agosto de 2020, en estados brasileños, como variables respuesta. Las relaciones han estimadas usando el coeficiente de correlación de Spearman y análisis de regresión múltiple. Resultados: En los estados brasileños, 59,8% de la variación de la incidencia de COVID-19 ha justificada por la desigualdad de renta, mayor densificación domiciliar y mayor letalidad. En la mortalidad, esas mismas variables explicaron 57,9% de las variaciones encontradas en las Unidades Federativas del país. Conclusión: Nuestros resultados indican que factores socioeconómicos influenciaron la evolución e impacto de COVID-19 en Brasil. Así, sugerimos acciones abarcadoras para garantizar condiciones económicas y el fortalecimiento de las redes de salud para poblaciones con vulnerabilidad socioeconómica.


RESUMO Objetivo: Analisar a influência de fatores socioeconômicos, demográficos, epidemiológicos e da estrutura do sistema de saúde na evolução da pandemia da COVID-19 no Brasil. Métodos: Estudo ecológico com variáveis extraídas de bancos de dados, tendo a incidência e mortalidade por COVID 19 até 23 de agosto de 2020, nos estados brasileiros, como variáveis-resposta. A magnitude das associações foi estimada usando o coeficiente de correlação de Spearman e análise de regressão múltipla. Resultados: Nos estados brasileiros, 59,8% da variação da incidência de COVID-19 foi justificada pela desigualdade de renda, maior adensamento domiciliar e maior letalidade. No caso da mortalidade, essas mesmas variáveis explicaram 57,9% das variações encontradas nas Unidades Federativas do país. Conclusão: Nossos resultados indicam que fatores socioeconômicos influenciaram a evolução e impacto da COVID-19 no Brasil. Dessa forma, sugerimos ações abrangentes a fim de garantir condições econômicas e o fortalecimento das redes de saúde para populações com vulnerabilidade socioeconômica.

19.
Rev. saúde pública (Online) ; 54: 39, 2020. tab, graf
Artigo em Inglês | LILACS, BBO - Odontologia | ID: biblio-1101856

RESUMO

ABSTRACT OBJECTIVE To examine and map the consequences of chronic pain in adulthood. METHOD Documents addressing the impact of chronic pain on the psychological and social spheres of people suffering from chronic pain, published in Spanish and English between 2013 and 2018, were included. Those who addressed pharmacological treatments, chronic pain resulting from surgical interventions or who did not have access to the full text were excluded. Finally, 28 documents from the 485 reviewed were included RESULTS Studies show that pain is related to high rates of limitation in daily activities, sleep disorders and anxiety-depression spectrum disorders. People in pain have more problems to get the workday done and to maintain social relationships. Chronic pain is also associated with worse family functioning. CONCLUSIONS This review shows that limitations in the ability to perform activities of daily living, sleep, psychological health, social and work resources and family functioning are lines of interest in published articles. However, knowledge gaps are detected in areas such as the influence of having suffered pain in childhood or adolescence, the consequences of non-fulfillment of working hours and gender inequalities.


RESUMEN OBJETIVO Examinar y mapear las consecuencias del dolor crónico en la edad adulta. MÉTODO Se incluyeron documentos que abordaban las repercusiones del dolor crónico en las esferas psicológica y social de las personas que lo padecen, publicados en español e inglés entre los años 2013-2018. Aquellos que abordaban tratamientos farmacológicos, dolor crónico derivado de intervenciones quirúrgicas o que no tenían acceso a texto completo fueron excluidos. Finalmente, se incluyeron 28 documentos de los 485 revisados. RESULTADOS Los estudios muestran que el dolor se relaciona con altas tasas de limitación en las actividades de la vida diaria, alteraciones del sueño y trastornos del espectro ansiedad-depresión. Las personas con dolor experimentan más problemas para rendir en la jornada laboral y mantener relaciones sociales. Con respecto a la familia, el dolor crónico se ha asociado con un peor funcionamiento familiar. CONCLUSIONES Esta revisión pone de manifiesto que las limitaciones en la capacidad para realizar actividades de la vida diaria, el sueño, la salud psicológica, los recursos sociales y laborales y el funcionamiento familiar son líneas de interés en los trabajos publicados. Sin embargo, se detectan lagunas de conocimiento en áreas como la influencia de haber padecido dolor en la infancia o adolescencia, las consecuencias por incumplimiento de la jornada laboral y las desigualdades de género.


Assuntos
Humanos , Adolescente , Adulto , Idoso , Adulto Jovem , Dor Crônica/psicologia , Ansiedade/psicologia , Transtornos do Sono-Vigília/psicologia , Atividades Cotidianas/psicologia , Depressão/psicologia , Relações Familiares/psicologia , Pessoa de Meia-Idade
20.
Ciênc. Saúde Colet. (Impr.) ; Ciênc. Saúde Colet. (Impr.);24(12): 4605-4620, dez. 2019. tab, graf
Artigo em Português | LILACS | ID: biblio-1055738

RESUMO

Resumo O artigo objetiva identificar as estratégias utilizadas, para participação do paciente na segurança do cuidado de saúde. Revisão sistemática, norteada pelas recomendações do modelo PRISMA, nos bancos de dados: Scopus, WOS e Medline. Limitou-se a busca a estudos realizados entre janeiro de 2001 e julho de 2016, redigidos em português, inglês ou espanhol. Foram incluídos estudos observacionais, descritivos, qualitativos e/ou epidemiológicos, que descrevessem a metodologia de elaboração e/ou aplicação de, pelo menos, uma estratégia de inclusão dos pacientes na melhoria da segurança dos cuidados. A qualidade metodológica dos artigos foi avaliada usando a ferramenta Cochrane. Para analisar os resultados se fez uma análise temática. Após leitura de títulos, resumos e aplicação de critérios de exclusão, 19 artigos foram selecionados. Nestes se identificam estratégias de mobilização dos pacientes para a segurança dos cuidados, estratégias para promover a participação ativa dos pacientes na segurança dos cuidados e estratégias de solicitação de informação ao paciente sobre a segurança dos cuidados. Há na literatura diversas estratégias que promovem a participação do paciente na segurança dos cuidados, que têm formas e métodos concretos de implementação, bem como objetivos distintos para o seu uso.


Abstract The scope of this article was to identify the strategies used for the participation of the patient in healthcare security in hospital and outpatient environments. It involved a systematic review of the literature based on the recommendations of the PRISMA model on the Scopus, WOS and Medline databases. The search was restricted to studies written in Portuguese, English or Spanish conducted between January 2001 and July 2016. Observational, descriptive, qualitative and/or epidemiological studies that described a development/appliance methodology using at least one patient security improvement strategy of inclusion were included. The methodological quality of the studies was assessed using the randomized Cochrane risk-of-bias tool. Thematic analyses were performed in order to analyze the results. After the application of criteria of title, abstract analysis and exclusion, 19 studies were selected. In these studies, patient security strategies that promoted patients' active participation on patient security and information request strategies were identified. In the literature, sundry strategies promoting patient participation on healthcare security, with concrete implementation methods, as well as distinct purposes for their use, were encountered.


Assuntos
Humanos , Participação do Paciente , Gestão da Segurança/métodos , Segurança do Paciente , Entrevistas como Assunto , Grupos Focais , Assistência Ambulatorial/normas , Hospitalização
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