Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 612
Filter
1.
Referência ; serVI(3): e31983, dez. 2024. tab, graf
Article in Portuguese | LILACS-Express | BDENF - Nursing | ID: biblio-1569438

ABSTRACT

Resumo Enquadramento: Estudos indicam que as interrupções contribuem para erros clínicos e falhas em procedimentos. Objetivo: Analisar as interrupções vivenciadas pelos enfermeiros durante a preparação e administração de medicamentos de alto risco. Metodologia: Foi realizado um estudo transversal numa unidade de cuidados intensivos e numa unidade de internamento. As interrupções vivenciadas pelos enfermeiros durante o processo de medicação foram observadas com a ajuda de duas checklists. A amostra foi selecionada por conveniência em abril e maio de 2019. Os dados quantitativos foram analisados através de estatística descritiva no programa IBM SPSS Statistics, versão 24.0, enquanto os dados qualitativos foram tratados por meio da análise de conteúdo. Resultados: Observaram-se 137 interrupções em 193 processos de medicação. A maioria das interrupções foi iniciada por outros membros da equipa de cuidados de saúde por meio de conversas. Estas interrupções foram maioritariamente prejudiciais e ocorreram durante a fase de preparação. A estratégia multitarefa foi utilizada para as gerir. Conclusão: As interrupções ocorridas durante o processo de medicação eram maioritariamente associadas com comunicações profissionais e sociais. A sua relevância diferiu consoante a fase do processo.


Abstract Background: Interruptions have been reported to contribute to clinical errors and procedural failures. Objective: To analyze the interruptions experienced by nurses during the preparation and administration of high-risk medications. Methodology: A cross-sectional study was conducted in an intensive care and inpatient unit. The interruptions experienced by nurses during the medication process were observed through two checklists. The sample was selected by convenience in April-May 2019. Descriptive statistics was used to analyze quantitative data in IBM SPSS Statistics software, version 24.0, while content analysis was used to analyze qualitative data. Results: In 193 medication processes, there were 137 interruptions. Other members of the healthcare team initiated most interruptions through conversations. These interruptions were mostly negative and occurred during the preparation phase. The multitasking strategy was used to manage them. Conclusion: Interruptions during the medication process were primarily associated with professional and social communications. The impact of these interruptions varied depending on the phase of the process.


Resumen Marco contextual: Se ha reportado la participación de distracciones en errores clínicos y fallos de procedimiento. Objetivo: Analizar las distracciones del personal de enfermería durante la preparación y administración de fármacos de alto riesgo. Metodología: Estudio transversal desarrollado en una unidad de cuidados intensivos y una unidad de hospitalización. Se observaron distracciones del personal de enfermería durante el proceso de medicación a través de dos listas de control. La muestra fue seleccionada por conveniencia (abril-mayo 2019). Los datos cuantitativos se analizaron mediante estadística descriptiva (IBM SPSS Statistics, versión 24.0). Los datos cualitativos se analizaron mediante análisis de contenido. Resultados: Hubo 137 distracciones en 193 procesos de medicación. La mayoría de las distracciones fueron iniciadas por otros miembros del equipo sanitario a través de conversaciones. La mayoría se produjeron en la fase de preparación y fueron negativas y se gestionaron mediante la estrategia multitarea. Conclusión: Las distracciones durante el proceso de medicación se referían principalmente a las comunicaciones profesionales y sociales. La importancia de esas distracciones variaba en función de la fase del proceso.

2.
Bol Med Hosp Infant Mex ; 81(4): 245-249, 2024.
Article in English | MEDLINE | ID: mdl-39236673

ABSTRACT

BACKGROUND: Activated phosphoinositide 3-kinase delta syndrome (APDS) [OMIM 615513] is an inborn error of immunity with autosomal dominant inheritance caused by a pathogenic variant in the PIK3CD gene. The prevalence ratio of APDS is < 1: 1,000,000 newborns. The main clinical features of APDS are sinopulmonary infections, benign lymphoproliferation, autoinflammatory disease, and a major risk of lymphoid neoplasms. CLINICAL CASE: A 17-year-old female with a history of pneumonia at 9 months of age subsequently developed recurrent respiratory tract infections, bronchiectasis, perforated otitis media, unilateral tonsillar lymphoid hyperplasia, pansinusitis, recurrent oral candidiasis, and chronic rhinitis. Laboratory studies reported persistent leukopenia and lymphopenia, low CD4 lymphocyte subpopulation, and persistently elevated immunoglobulin M immunoglobulin studies with values up to 692 mg/dL. An inborn error of immunity next-generation sequencing and multiplex ligation-dependent probe amplification analysis detected a heterozygous pathogenic variant in the PIK3CD gene, compatible with APDS. Treatment with monthly injectable gamma globulin and prophylactic antibiotics was started, allowing better control of the infectious processes. CONCLUSION: This is the second case of APDS reported in Mexico in the literature. It is important to be aware of this condition to make a timely diagnosis, which requires a high clinical suspicion and immunological and genetic studies to provide adequate treatment and prevent complications.


INTRODUCCIÓN: El síndrome de la Fosfoinositida 3-cinasa delta activado (Activated Phosphoinositide 3-kinase δ síndrome, APDS) [OMIM 615513] es un error innato de la inmunidad con patrón de herencia autosómica dominante causada por una variante patogénica heterocigota del gen PIK3CD. Su prevalencia es < 1: 1,000,000 nacidos vivos. Las principales manifestaciones clínicas son infecciones sinopulmonares, linfoproliferación benigna, autoinmunidad y aumento del riesgo de malignización linfoide. CASO CLÍNICO: Femenino de 17 años de vida con antecedentes de neumonía a los 9 meses de edad, posteriormente infecciones de vías respiratorias recurrentes, bronquiectasias, otitis media perforada, hiperplasia linfoide de amigdala unilateral, pansinusitis, candidiasis oral recurrente y rinitis crónica. Los estudios de laboratorio reportaron leuco linfopenia persistente, subpoblación linfocitaria con CD4 baja y estudios de inmunoglobulinas con IgM persistentemente elevada con valor de hasta 692 mg/dl. Se realizó estudio molecular de secuenciación de siguiente generación (NGS por sus siglas en inglés Next-Generation Sequencing) y amplificación de sondas dependientes de ligandos múltiples (MLPA por sus siglas en inglés Multiplex Ligation-dependent Probe Amplification) dirigido a errores innatos de la inmunidad que detectó una variante patogénica en estado heterocigoto en el gen PIK3CD, compatible con APDS. Se inició tratamiento con gammaglobulina intravenosa mensual y antibiótico profiláctico, permitiendo mejor control de los procesos infecciosos. CONCLUSIONES: Este es el segundo caso reportado en la literatura de APDS en México, por lo que es importante su conocimiento para poder realizar un diagnóstico oportuno, para el cual se requiere una alta sospecha clínica, además de estudios inmunológicos y genéticos, con la finalidad de otorgar el tratamiento adecuado y prevenir complicaciones.


Subject(s)
Class I Phosphatidylinositol 3-Kinases , Humans , Female , Adolescent , Class I Phosphatidylinositol 3-Kinases/genetics , Primary Immunodeficiency Diseases/diagnosis , Primary Immunodeficiency Diseases/genetics , Respiratory Tract Infections
3.
J Healthc Qual Res ; 2024 Sep 05.
Article in English | MEDLINE | ID: mdl-39242342

ABSTRACT

INTRODUCTION: It is important to determine the health-related quality of life (HRQoL) to devise population-based cost-effective service delivery models. The present study aimed to evaluate the HRQoL of patients with refractive errors (RE) using generic and vision-specific instruments, identify the determinants of HRQoL, and examine the validity between the quality-of-life instruments for refractive errors. METHODS: Face-to-face interviews were conducted with 515 participants with RE using generic as well as vision-specific HRQoL measures. Mean EuroQol-five dimensions-five levels (EQ-5D-5L) utility value, National Eye Institute-Visual Function Questionnaire-25 (NEI-VFQ-25) composite score, and EuroQol-Visual analogue scale (EQ-VAS) score were computed, and determinants of quality of life were determined using generalized linear regression model. The validity between generic and disease-specific measures was ascertained using Pearson's coefficient. RESULTS: The mean EQ-5D-5L utility score for patients with RE was estimated as 0.72 (95% CI: 0.70-0.75). The mean NEI-VFQ-25 composite score and EQ-VAS score were 71.3 (95% CI: 69.8-73), and 74.7 (95% CI: 73.4-76.1), respectively. Visual acuity, gender, and presence of co-morbidities were significantly associated with quality of life. The concurrence between the generic and vision-specific instruments was found to be low to moderate. CONCLUSION: The findings of the study indicate the importance of the value of quality of life for patients with RE, which could be taken into account by health administrators, doctors and researchers to carry out economic evaluations, since these measures provide a basis for an evaluation more precisely the impact of RE and guide the determination of efficient ways to alleviate the burden of treatable visual impairment. More research is required to explore the potential integration of a vision component, the sixth dimension, into the EQ-5D-5L instrument, given the moderate agreement observed between the generic and specific assessment tools.

4.
Article in English | MEDLINE | ID: mdl-39153953

ABSTRACT

Medication errors, potentially causing harm and causing harm, increase significantly in newborns cared for in intensive care settings. In this sense, this work carries out a systematic review to analyze the most current evidence in relation to medication errors in neonatal intensive care, discussing the topics that refer to health technology from smart pumps, cost-effectiveness of medications, the practice of nursing professionals on the medication administration process and quality improvement models. In this way, it could be considered a useful tool to promote quality and safety in neonatal intensive care.

5.
Farm Hosp ; 2024 Aug 23.
Article in English, Spanish | MEDLINE | ID: mdl-39181756

ABSTRACT

INTRODUCTION: The aim of this study was to assess the implementation of safe medication practices in hospital emergency services, in order to understand the points of greatest risk as well as the safety challenges faced by these departments, and to plan collaboratively improvement initiatives. METHOD: Multicentric and descriptive study based on completion of the "Medication safety self-assessment of emergency services" from 5/16/2023 to 11/16/2023, at voluntarily participating emergency services. The survey contained 93 items grouped into 10 key elements. Mean score and mean percentages based on the maximum possible values for the overall survey, for the key elements and for each individual item of evaluation, were assessed. RESULTS: A total of 72 emergency services completed the questionnaire. The mean score obtained for the overall questionnaire was 428.3 points (51.1% of the maximum score). Results showed a large variation among the scores of the participating services (range: 164-620.5). Four key elements had values below 50%, corresponding to competence and training of professionals in safety practices (38.4%); incorporation of pharmacists in emergency departments (42.1%), availability and accessibility of information about patients (43.1%), and patient education (48.1%). The highest values corresponded to labeling, packaging, and naming of medications (69.2%) and communication of prescriptions and other medication information (64%). No differences were found between emergency services in the key elements according to the dependency or size of the hospital, or the type of service, except for the item referring to the incorporation of pharmacists in the emergency service, where differences were observed between hospitals with less than 200 beds (28.9%) and those with more than 500 (52.2%). CONCLUSION: The application of the specific self-assessment questionnaire has made it possible to identify safety practices that are insufficiently implemented into emergency services in our country and to identify critical points for improvement for which planning collaborative initiatives to reduce medication errors in these departments should become a priority.

6.
Genet Genom Clinic ; 2(2): 52-62, 31 de agosto de 2024.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1568239

ABSTRACT

Introducción: Los Errores Innatos del Metabolismo (EIM) de carbohidratos son el resultado de la interrupción de las vías catabólicas o anabólicas de diferentes carbohidratos, siendo la fructosa, la galactosa y el glucógeno los más comunes y pertenecen a un grupo heterogéneo de trastornos que pueden ser hereditarios o pueden ocurrir como resultado de variantes genéticas espontáneas. En los EIM, están las vías de los carbohidratos alteradas, tanto las vías catabólicas como las anabólicas, incluyendo el metabolismo de la fructosa, galactosa y glucógeno, dando lugar a un grupo heterogéneo de trastornos. Sin embargo, los datos sobre estas patologías en Colombia son escasos. Nuestro estudio tuvo como objetivo identificar variantes genómicas asociadas a EIM por carbohidratos en población del suroccidente colombiano carente de diagnóstico clínico. Resultados: Realizamos un estudio transversal, secuenciando 320 exomas y clasificando las variantes de acuerdo a guías estándar. Identificamos 286 variantes, incluyendo 206 nuevas y 73 variantes benignas o probablemente benignas. En particular, seis variantes en genes como GALT, GAK1, ALDOB, GAA y SLC2A1 tenían un significado incierto, y una variante patogénica en el gen GALT se asoció con la galactosemia clásica. Curiosamente, el 18% eran intrónicas, el 5% con sentido erroneo, el 10% sinónimas y el 67% variantes no notificadas. Conclusiones: Estos hallazgos ponen de relieve la necesidad de programas de diagnóstico precoz para aplicar tratamientos específicos, incluido el manejo transdisciplinar para minimizar la morbilidad y la mortalidad. El consejo genético y la educación sobre el riesgo son cruciales, facilitando enfoques de medicina anticipatoria y preventiva, avanzando así en la medicina de precisión.   (provisto por Infomedic International)


Introduction: Carbohydrate Inborn Errors of Metabolism (IEMs) result from disruption of the catabolic or anabolic pathways of different carbohydrates, fructose, galactose and glycogen being the most common and belong to a heterogeneous group of disorders that may be inherited or may occur as a result of spontaneous genetic variants. In IEM, there are altered carbohydrate pathways, both catabolic and anabolic pathways, including fructose, galactose and glycogen metabolism, resulting in a heterogeneous group of disorders. However, data on these pathologies in Colombia are scarce. The aim of our study was to identify genomic variants associated with carbohydrate IEM in the southwestern Colombian population lacking clinical diagnosis. Results: We performed a cross-sectional study, sequencing 320 exomes and classifying variants according to standard guidelines. We identified 286 variants, including 206 new variants and 73 benign or probably benign variants. Notably, six variants in genes such as GALT, GAK1, ALDOB, GAA and SLC2A1 were of uncertain significance, and one pathogenic variant in the GALT gene was associated with classic galactosemia. Interestingly, 18% were intronic, 5% missense, 10% synonymous, and 67% unreported variants. Conclusions: These findings highlight the need for early diagnostic programs to implement targeted treatments, including transdisciplinary management to minimize morbidity and mortality. Genetic counseling and risk education are crucial, facilitating anticipatory and preventive medicine approaches, thus advancing precision medicine. (provided by Infomedic International)

7.
Reumatol Clin (Engl Ed) ; 20(7): 398-400, 2024.
Article in English | MEDLINE | ID: mdl-38971706

ABSTRACT

OBJECTIVE: To assess the prevalence of systemic and organ-specific autoimmunity among individuals with human inborn errors of immunity (IEI). METHODS: Retrospective study. We recorded demographic variables, type of immunodeficiency, and systemic and organ specific autoimmunity. RESULTS: We included 48 patients (54.1% men) with mean age of 32.1 years. The most common IEIs included combined immunodeficiency with syndromic features (31.2%) and predominantly antibody deficiency (20.1%). We observed autoimmunity in 15 patients (31.2%): 12 organ-specific autoimmunity and 5 systemic autoimmunity, not mutually exclusive groups. Organ-specific autoimmunity preceded the onset of IEI in 5 patients, was concurrent in one patient, and developed after the diagnosis of IEI in 6 cases. From the systemic autoimmunity group, we observed polyarteritis nodosa (n = 2), antiphospholipid syndrome (APS) (n = 2), and overlap of limited systemic sclerosis/APS/Sjögren's syndrome (n = 1), and in all cases, this occurred after the IEI diagnosis. CONCLUSION: Our findings confirm the coexistence of autoimmunity and IEI. This overlap may be attributed to B and T cell disorders, as well as potential alterations in the microbiota in these patients.


Subject(s)
Autoimmune Diseases , Autoimmunity , Humans , Male , Retrospective Studies , Female , Adult , Adolescent , Young Adult , Middle Aged , Child , Autoimmune Diseases/immunology , Autoimmune Diseases/complications , Child, Preschool , Infant
8.
Article in English | MEDLINE | ID: mdl-38701894

ABSTRACT

The continuous development of medicine in most fields requires physicians to apply the latest methods and technology to ensure patients' safety. In the field of anesthesiology we are pioneers in the application of measures that guarantee the security of our patients, making possible the greatest reduction in mortality seen among all other specialties. This objective has been achieved thanks to the introduction of changes such as the one presented in this review article. The specific NRFit® connections for neuraxial and other regional anesthesia applications prevent wrong route medication errors to occur. These medication errors have been related to a high morbidity and mortality rate. This article reviews this new technology based in our own two-year experience at Hospital Universitario Príncipe de Asturias (Alcalá de Henares, Madrid) as well as a literature review using PubMed, UpToDate and ClinicalKey.


Subject(s)
Anesthesia, Conduction , Medication Errors , Medication Errors/prevention & control , Humans , Anesthesia, Conduction/methods , Anesthesia, Conduction/instrumentation , Equipment Design
9.
Farm Hosp ; 2024 May 27.
Article in English, Spanish | MEDLINE | ID: mdl-38806362

ABSTRACT

OBJECTIVE: The main objective was to analyze unjustified discrepancies during the medication reconciliation process in patients admitted to the Hematology Service of our hospital and the pharmaceutical interventions. As a secondary objective, to detect possible points of the procedure to be perfected with a view to protocolizing the medication reconciliation process in hematological patients that adapts to the conditions of our center. METHODS: Cross-sectional observational pilot study carried out in a reference hospital in hematology for a population of 800,000 inhabitants. Adult inpatients admitted to the Hematology Service between August and October 2022 whose medication had been reconciled were included. The main variables were: number and type of unjustified discrepancy, proposed pharmaceutical intervention, and acceptance rate. RESULTS: 36 conciliation processes were analyzed, 34 admissions and 2 intrahospital transfer. 58.3% of the patients presented at least one unjustified discrepancy. 38 unjustified discrepancies were detected, with an acceptance of pharmaceutical interventions of 97.4%. The most common types of discrepancy were medication omission (56.8%) and drug interaction (24.3%). The most frequent pharmaceutical interventions were reintroducing medication (48.6%) and treatment discontinuation (16.2%). Polypharmacy and chemotherapy multiplied by 4 the probability of presenting drug interactions. CONCLUSIONS: The most common unjustified discrepancies in the medication reconciliation process in hospitalized hematology patients are: Medication omission and drug interactions. The reintroduction of medication and suspension of the prescription are the most frequent accepted pharmaceutical interventions. Polypharmacy is related to an increase in unjustified discrepancies. The factors that promote the appearance of interactions are admissions to receive chemotherapy treatment and polypharmacy. The main point of improvement detected is the need to create a circuit that allows conciliation to be carried out on discharge. Medication reconciliation contribute to improving patient safety by reducing medication errors.

10.
An Pediatr (Engl Ed) ; 100(5): 318-324, 2024 May.
Article in English | MEDLINE | ID: mdl-38714461

ABSTRACT

INTRODUCTION: . Neonatal screening of glutaric aciduria type 1 (GA-1) has brought radical changes in the course and outcomes of this disease. This study analyses the outcomes of the first 5 years (2015-2019) of the AGA1 neonatal screening programme in our autonomous community. MATERIAL: . We conducted an observational, descriptive and retrospective study. All neonates born between January 1, 2015 and December 31, 2019 that participated in the neonatal screening programme were included in the study. The glutarylcarnitine (C5DC) concentration in dry blood spot samples was measured by means of tandem mass spectrometry applying a cut-off point of 0.25 µmol/L. RESULTS: . A total of 30 120 newborns underwent screening. We found differences in the C5DC concentration based on gestational age, type of feeding and hours of life at sample collection. These differences were not relevant for screening purposes. There were no differences between neonates with weights smaller and greater than 1500 g. Screening identified 2 affected patients and there were 3 false positives. There were no false negatives. The diagnosis was confirmed by genetic testing. Patients have been in treatment since diagnosis and have not developed encephalopathic crises in the first 4 years of life. CONCLUSIONS: . Screening allowed early diagnosis of two cases of GA-1 in the first 5 years since its introduction in our autonomous community. Although there were differences in C5DC levels based on gestational age, type of feeding and hours of life at blood extraction, they were not relevant for screening.


Subject(s)
Amino Acid Metabolism, Inborn Errors , Brain Diseases, Metabolic , Glutaryl-CoA Dehydrogenase , Neonatal Screening , Humans , Neonatal Screening/methods , Infant, Newborn , Retrospective Studies , Glutaryl-CoA Dehydrogenase/deficiency , Amino Acid Metabolism, Inborn Errors/diagnosis , Male , Female , Brain Diseases, Metabolic/diagnosis , Tandem Mass Spectrometry , Glutarates/blood , Gestational Age , Carnitine/analogs & derivatives
11.
Rev. esp. anestesiol. reanim ; 71(4): 339-343, abril 2024. ilus, tab
Article in Spanish | IBECS | ID: ibc-232130

ABSTRACT

Los tumores glómicos (TG) son neoplasias benignas raras, que se derivan de la estructura neuroarterial denominada cuerpo glómico, un shunt arteriovenoso especializado implicado en la regulación de la temperatura. Representan menos de 2% de los tumores del tejido blando, y entre 1 y 4,5% de los tumores de la mano. Aun cuando sus primeras descripciones aparecieron hace casi 100 años, son comunes la demora y la ausencia diagnósticas, las cuales originan un sufrimiento terrible. La tríada diagnóstica clásica consiste en dolor espontáneo, sensación de presión y sensibilidad, e hipersensibilidad al frío. La imagen de resonancia magnética (IRM) sigue siendo la modalidad de imagen más útil. La supresión del dolor tras inflar un esfigmomanómetro por encima de los niveles de la presión arterial sistólica (prueba de detección de isquemia) es altamente diagnóstica, por lo que sugerimos el uso rutinario de esta prueba simple en los casos de dolor en la extremidad superior de etiología desconocida. La resección quirúrgica es el tratamiento de elección, y es curativa. (AU)


Glomus tumors are a rare benign neoplasm arising from the neuroarterial structure called the glomus body, a specialized arteriovenous shunt involved in temperature regulation. They represent less than 2% of soft tissue tumors and between 1 and 4.5% of hand's tumors. Even though its first descriptions appeared almost 100 years ago, late and missed diagnoses are common, which leads to terrible suffering. The classic diagnostic triad consists of spontaneous pain, pressure sensation and tenderness, and cold hypersensitivity. Magnetic resonance imaging stills the most useful imaging modality. Abolition of pain after inflating a blood pressure cuff above systolic blood pressure levels (ischemia test) is highly diagnostic, so we suggest the routine use of this simple test in cases of upper limb pain of unknown etiology clear. Surgical excision is the treatment of choice and is curative. (AU)


Subject(s)
Humans , Female , Adult , Glomus Tumor , Ischemia , Diagnostic Errors , Chronic Pain
12.
Nutr. hosp ; 41(2): 477-488, Mar-Abr. 2024. tab
Article in Spanish | IBECS | ID: ibc-232665

ABSTRACT

La dieta cetogénica constituyó desde su inicio un planteamiento sorprendente para el tratamiento de la epilepsia. Someter al organismo a un cambio en la obtención de energía, pasando de depender de los carbohidratos a hacerlo de las grasas, pone en marcha toda una serie de rutas bioquímicas que, de forma independiente pero también complementaria, dan lugar a un conjunto de efectos que benefician al paciente. Esta búsqueda de su mecanismo de acción, de idear cómo mejorar el cumplimiento y de aprovecharla para otras enfermedades ha marcado su trayectoria. En este artículo se revisan someramente estos aspectos, haciendo hincapié en la importancia de seguir realizando investigación básica y clínica para que este tratamiento pueda aplicarse con bases científicas sólidas.(AU)


The ketogenic diet was an amazing approach to treating epilepsy from its beginning. The body undergoes a change in obtaining energy, going from depending on carbohydrates to depending on fats, and then a whole series of biochemical routes are launched that, independently but also complementary, give rise to a set of effects that benefit the patient. This search for its mechanism of action, of devising how to improve compliance and take advantage of it for other diseases has marked its trajectory. This article briefl y reviews these aspects, emphasizing the importance of continuing to carry out basic and clinical research so that this treatment can be applied with solid scientific bases.(AU)


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Diet, Ketogenic/methods , Steroid Metabolism, Inborn Errors , Epilepsy/therapy , Diet Therapy
13.
Arch Soc Esp Oftalmol (Engl Ed) ; 99(9): 392-399, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38663712

ABSTRACT

Gyrate atrophy of the choroid and retina (GACR) is a rare autosomal recessive disease characterised by elevated plasma ornithine levels due to deficiency of the enzyme ornithine aminotransferase (OAT). The accumulation of this amino acid in plasma leads to the development of patches of chorioretinal atrophy in the peripheral retina extending into the macular area. Patients usually present with night blindness followed by constriction of the visual field and, finally, decreased central vision and blindness. The disease is diagnosed by the presence of the characteristic clinical picture, the presence of hyperornithinaemia in plasma and the detection of mutations in the OAT enzyme gene. There is currently no effective gene therapy and the most common therapeutic intervention mainly involves dietary modifications with arginine restriction. This article aims to summarise the pathogenesis, clinical and diagnostic findings and treatment options in patients with GACR.


Subject(s)
Gyrate Atrophy , Humans , Gyrate Atrophy/diagnosis , Gyrate Atrophy/therapy , Ornithine-Oxo-Acid Transaminase/deficiency , Ornithine-Oxo-Acid Transaminase/genetics , Ornithine/therapeutic use , Arginine/therapeutic use
14.
Medisan ; 28(2)abr. 2024. ilus,tab
Article in Spanish | LILACS, CUMED | ID: biblio-1558522

ABSTRACT

Introducción: Globalmente, existe un aumento de la prevalencia del queratocono y su diagnóstico en edades tempranas. Se notifican un gran número de casos subclínicos y otros con una rápida progresión, condicionada por el inicio precoz de la enfermedad y la asociación a factores de riesgo. Objetivo: Describir los aspectos epidemiológicos, clínicos y el resultado de los medios de diagnóstico implicados en la detección precoz del queratocono infantil. Desarrollo: En niños con ametropía hay elementos que alertan la presencia de un queratocono como causa del defecto refractivo. Desde el punto de vista epidemiológico se encuentran: distribución geográfica, rol de la herencia y factores ambientales. Clínicamente se señalan los antecedentes de enfermedades, tales como las alergias, la presencia de miopía o astigmatismo miópico con inestabilidad refractiva y los signos clínicos relacionados con la progresión del cono. En los pacientes de riesgo es preciso realizar exámenes mediante diferentes medios de diagnóstico según su disponibilidad, siendo primordial el análisis refractivo, queratométrico y topográfico. Conclusiones: En la evaluación de los niños con ametropía se deben tener en cuenta elementos epidemiológicos y clínicos que permiten sospechar y diagnosticar precozmente el queratocono. En la interpretación de los resultados de los medios de diagnóstico involucrados en su detección, se deben considerar los hallazgos más frecuentes en la población infantil según el grado de progresión de la ectasia.


Introduction: Globally, there is an increase of the keratoconus prevalence and its diagnosis in early ages. A great number of subclinical cases and others with a quick progression are notified, conditioned by the early onset of the disease and the association with risk factors. Objective: To describe the epidemiological, clinical aspects and the result of diagnostic means involved in the early detection of infant keratoconus. Development: There are elements that alert the presence of a keratoconus as a cause of the refractive defect in children with ametropia. From the epidemiologic point of view they are: geographical distribution, heredity role and environmental factors. History of previous diseases are clinically pointed out, such as allergies, myopia or myopic astigmatism with refractive instability and the clinical signs related to cone progression. In risk patients it is necessary to carry out exams by means of different diagnostic means according to their availability, being essential the refractive, keratometric and topographic analysis. Conclusions: In the evaluation of children with ametropia, epidemiological and clinical elements should be taken into account that allow to suspect and early diagnose the keratoconus. In the interpretation of results of the diagnostic means involved in their detection the most frequent findings in the infant population, should be considered according to the ectasia degree of progression.


Subject(s)
Child , Keratoconus , Refractive Errors , Astigmatism , Corneal Topography , Myopia
15.
Farm. hosp ; 48(1): 23-28, ene. - feb. 2024. tab, ilus
Article in Spanish | IBECS | ID: ibc-229469

ABSTRACT

Introducción el objetivo principal es describir el diseño e implementación de una aplicación para dispositivos móviles para facilitar el seguimiento de las preparaciones elaboradas en el servicio de farmacia hospitalaria. Los objetivos secundarios fueron evaluar el tiempo dedicado a la resolución de incidencias relacionadas con la dispensación/distribución de las preparaciones pre y postimplantación de la aplicación, conocer el grado de satisfacción de los usuarios y disponer de información cualitativa y cuantitativa del proceso que permita establecer indicadores de seguimiento. Métodos se definieron los requisitos a cumplir por el aplicativo informático, los fármacos susceptibles de entrar en el sistema y los circuitos de entrega. Se procedió al desarrollo de la aplicación por parte del proveedor e integración con los programas informáticos de prescripción/validación. Se crearon y añadieron los códigos QR de identificación en los puntos de entrega de medicamentos en las unidades de destino. Se adquirieron los dispositivos móviles necesarios. Primera etapa de formación de usuarios en la aplicación y prueba piloto en una planta de hospitalización. Posteriormente se inició la fase de expansión y consolidación. Resultados el 86,9% de las preparaciones estériles elaboradas en el servicio de farmacia hospitalaria se han incorporado al sistema, incluyendo quimioterapia, nutriciones parenterales de adultos y otras preparaciones estériles no peligrosas. Se han incluido en la aplicación las salas de hospitalización, los hospitales de día y 2 sedes externas. La media de preparaciones trazadas mensualmente es de 5.403 (DE = 297,3) (AU)


Introduction The primary objective of this study is to describe the design and implementation of a mobile application (App) for tracking preparations compounded in the Pharmacy Department. Secondary objectives include evaluating the time spent on resolving incidents related to the distribution of preparations before and after implementation, assessing users satisfaction with the application, and establishing a panel of quality indicators based on the data extracted from the App. Methods Defining application requirements, identifying drugs to be included in the software and outlining different workflows. Developing the App in collaboration with the supplier and integrating it with the computer programs involved in prescription and validation. Additionally, QR codes were created to identify delivery points at destination units, and suitable mobile devices were acquired. The initial phase involved user training in the application and a pilot test conducted in a hospital ward. The subsequent phase focused on expansion and consolidation. Results The system includes 86.9% of all sterile preparations prepared in the Hospital Pharmacy, encompassing chemotherapy, adult parenteral nutrition, and other non-hazardous sterile preparations. Furthermore, the application has been implemented in all hospitalization wards, day care units and two external sites. On average, 5,403 preparations were tracked per month (SD = 297.3). The time required to address incidents related to the distribution of preparations has decreased by 83% (from 38.9 to 6.6 minutes per day). The App regularly provides valuable management data for optimizing workflow in the compounding area. Additionally, users have expressed satisfaction with the application (AU)


Subject(s)
Humans , Mobile Applications , Medication Errors/prevention & control , Total Quality Management
16.
Rev Esp Anestesiol Reanim (Engl Ed) ; 71(4): 339-343, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38423461

ABSTRACT

Glomus tumors are a rare, benign neoplasm arising from the neuroarterial structure known as the glomus body, which is a specialized arteriovenous shunt involved in temperature regulation. They account for less than 2% of soft tissue tumors and between 1% and 4.5% of tumors in the hand.. Despite their first descriptions appearing almost 100 years ago, late and missed diagnoses are common, leading to significant suffering. The classic diagnostic triad includes spontaneous pain, a sensation of pressure and tenderness, and cold hypersensitivity. Magnetic resonance imaging remains the most useful imaging modality. The abolition of pain after inflating a blood pressure cuff above the systolic blood pressure level (ischemia test) is highly diagnostic.Therefore, we suggest the routine use of this simple test in cases of upper limb pain of unclear etiology . Surgical excision is the treatment of choice and is curative.


Subject(s)
Chronic Pain , Fingers , Glomus Tumor , Ischemia , Humans , Glomus Tumor/complications , Glomus Tumor/diagnosis , Glomus Tumor/diagnostic imaging , Fingers/blood supply , Ischemia/etiology , Chronic Pain/etiology , Male , Female , Middle Aged
17.
Farm. comunitarios (Internet) ; 16(1): 55-60, Ene. 2024. ilus
Article in Spanish | IBECS | ID: ibc-229281

ABSTRACT

Paciente de 38 años, diagnosticado de asma y ansiedad que utilizaba 2 medicamentos (salbutamol 100 mcg inhalador (2 pulv. cada 6 horas) y diazepam 5 mg (0-0-1)), acude a la Farmacia Comunitaria (FC) para retirar un tratamiento prescrito por el Médico de Atención Primaria (MAP) tras diagnóstico de un cuadro ansioso-depresivo. Desde el Servicio de Dispensación (SD) se detectó un Problema Relacionado con el Medicamento (PRM) de un potencial error en la prescripción, que podría tener asociado un Resultado Negativo asociado a la Medicación (RNM) ante uso concomitante de desvenlafaxina y mirtazapina, así como un PRM de Problema de Salud (PS) insuficientemente tratado ante una propuesta de suspensión de uso de diazepam, que podría derivar en un RNM de Necesidad de Tratamiento ante el riesgo de empeoramiento de episodios de ansiedad. Desde la FC, se elaboró un informe de derivación con recomendaciones que fueron aceptadas por el MAP. Se llevó a cabo un seguimiento del caso que permitió realizar un mejor control de los PS presentados por el paciente, así como la resolución de los PRM y RNM detectados, garantizando así un uso racional, seguro y eficaz del medicamento. (AU)


A 38-year-old patient diagnosed with asthma and anxiety, who takes two medications (salbutamol 100 mcg inhaler (2 puffs every 6 hours), and diazepam 5 mg (0-0-1), visited the Community Pharmacy to pick up a treatment prescribed by the Primary Care Physician (PCP) following a diagnosis of anxious-depressive symptoms. During the Dispensing Service, a potential Drug-Related Problem (DRP) of prescription error is detected, which could be related with a Negative Outcomes Releated to Medicines (NOM) due to the concurrent use of desvenlafaxine and mirtazapine. Additionally, a Health Problem (HP)-related DRP was detected, as the proposal to discontinue the use of diazepam could result in an Insufficiently Treated HP, potentially leading to a NOM of Treatment Necessity due to the risk of worsening anxiety episodes. From de Community Pharmacy, a report was prepared with recommendations that were accepted by the PCP. Subsequent case monitoring revealed an improved management of the patient’s health problems, as well as the resolution of the identified DRP and NOM. This ensured a rational, safe, and effective use of the medication. (AU)


Subject(s)
Humans , Adult , Medication Errors/adverse effects , Pharmacies , Patient Safety , Good Dispensing Practices
18.
Rev. cient. cienc. salud ; 6: 1-14, 30-01-2024.
Article in Spanish | LILACS, BDNPAR | ID: biblio-1571469

ABSTRACT

Introducción. Los errores de medicación (EM) pueden estar asociados con el ejercicio profesional en la prescripción, dispensación, distribución, administración de medicamentos, monitoreo y problemas de comunicación entre profesionales de la salud. La preparación y administración de medicamentos es un proceso de gran complejidad en el que los profesionales de enfermería desempeñan un papel fundamental como la última línea de defensa para evitar posibles daños relacionados con los fármacos en el paciente. El profesional de enfermería es el llamado a liderar el proceso de administración de medicamentos, asumiendo un rol esencial en el equipo de enfermería. Objetivo. Identificar los principales factores contributivos y estrategias de prevención, abordaje y gestión de servicios de enfermería frente a los errores de medicación desde la seguridad del paciente. Métodos: Se realizó una revisión de alcance tipo Scoping Review en Pubmed, EBSCO host, y Science Direct. Se emplearon descriptores identificados en Desc y Mesh artículos. Para seleccionar los artículos del presente artículo se utilizó la metodología prisma para revisiones. Resultados: Se encontraron 369 artículos en las bases abordadas de acuerdo con los criterios determinados,43 artículos se seleccionaron para la investigación. Conclusiones. Se identificaron los diferentes elementos que componen a la presencia de errores en la medicación; a su vez los factores generadores y/o contributivos para la presencia de estos errores durante la administración de medicamentos, a su vez se determinaron estrategias para prevención, abordaje y gestión de servicios de enfermería que disminuyan los potenciales riesgos identificados. Palabras clave: enfermería basada en la evidencia; seguridad del paciente; errores de medicación; enfermería; seguridad del paciente


Introduction. Medication errors (ME) can be associated with professional practice in prescribing, dispensing, distributing, administering medications, monitoring and communication problems between health professionals; The preparation and administration of medications is a highly complex process in which nursing professionals play a fundamental role as the last line of defense to prevent possible drug-related harm to the patient. The nursing professional is called upon to lead the medication administration process, assuming an essential role in the nursing team. Objective. To identify the main contributing factors and strategies for prevention, approach and management of nursing services in the face of medication errors from the perspective of patient safety. Methods: A Scoping Review type literature search was conducted in Pubmed, EBSCO host, and Science Direct. Descriptors identified in Desc and Mesh articles were used; the PRISMAmethodology for reviews was used to select the articles for this article.Results: 369 articles were found in the databases addressed according to the determined criteria; 43 articles were selected for the research.Conclusion. The different elements that make up the presence of medication errors were identified; in turn, the generating and/or contributing factors for the presence of these errors during the administration of medications, in turn, strategies for prevention, approach and management of nursing services that reduce the potential risks identified were determined. Key words:evidence-based nursing; patient safety; medication errors medication errors; nursing;patient safety


Subject(s)
Medication Errors , Nursing , Evidence-Based Nursing , Patient Safety
19.
Farm Hosp ; 48(1): T23-T28, 2024.
Article in English, Spanish | MEDLINE | ID: mdl-37833158

ABSTRACT

INTRODUCTION: The primary objective of this study is to describe the design and implementation of a mobile application (App) for tracking preparations compounded in the Pharmacy Department. Secondary objectives include: i) evaluating the time spent on resolving incidents related to the distribution of preparations before and after implementation, ii) assessing users satisfaction with the application, and iii) establishing a panel of quality indicators based on the data extracted from the App. METHODS: 1) Defining application requirements, identifying drugs to be included in the software and outlining different workflows. 2) Developing the App in collaboration with the supplier and integrating it with the computer programs involved in prescription and validation. Additionally, QR codes were created to identify delivery points at destination units, and suitable mobile devices were acquired. The initial phase involved user training in the application and a pilot test conducted in a hospital ward. 3) The subsequent phase focused on expansion and consolidation. RESULTS: The system includes 86.9% of all sterile preparations prepared in the Hospital Pharmacy, encompassing chemotherapy, adult parenteral nutrition, and other non-hazardous sterile preparations. Furthermore, the application has been implemented in all hospitalisation wards, day care units and two external sites. On average, 5403 preparations were tracked per month (SD = 297.3). The time required to address incidents related to the distribution of preparations has decreased by 83% (from 38.9 to 6.6 min per day). The App regularly provides valuable management data for optimising workflow in the compounding area. Additionally, users have expressed satisfaction with the application. DISCUSION: The proposed application enables hospital staff to easily and intuitively track preparations compounded in the Pharmacy, irrespective of the computer program used for prescription. It has significantly reduced the need for manual record-keeping and has mitigated incidents associated with the distribution of sterile preparations.


Subject(s)
Mobile Applications , Pharmacy Service, Hospital , Pharmacy , Adult , Humans , Drug Compounding , Pharmaceutical Preparations
20.
Farm Hosp ; 48(1): 23-28, 2024.
Article in English, Spanish | MEDLINE | ID: mdl-37516613

ABSTRACT

INTRODUCTION: The primary objective of this study is to describe the design and implementation of a mobile application (App) for tracking preparations compounded in the Pharmacy Department. Secondary objectives include evaluating the time spent on resolving incidents related to the distribution of preparations before and after implementation, assessing users satisfaction with the application, and establishing a panel of quality indicators based on the data extracted from the App. METHODS: Defining application requirements, identifying drugs to be included in the software and outlining different workflows. Developing the App in collaboration with the supplier and integrating it with the computer programs involved in prescription and validation. Additionally, QR codes were created to identify delivery points at destination units, and suitable mobile devices were acquired. The initial phase involved user training in the application and a pilot test conducted in a hospital ward. The subsequent phase focused on expansion and consolidation. RESULTS: The system includes 86.9% of all sterile preparations prepared in the Hospital Pharmacy, encompassing chemotherapy, adult parenteral nutrition, and other non-hazardous sterile preparations. Furthermore, the application has been implemented in all hospitalization wards, day care units and two external sites. On average, 5,403 preparations were tracked per month (SD = 297.3). The time required to address incidents related to the distribution of preparations has decreased by 83% (from 38.9 to 6.6 minutes per day). The App regularly provides valuable management data for optimizing workflow in the compounding area. Additionally, users have expressed satisfaction with the application. DISCUSION: The proposed application enables hospital staff to easily and intuitively track preparations compounded in the pharmacy, irrespective of the computer program used for prescription. It has significantly reduced the need for manual record-keeping and has mitigated incidents associated with the distribution of sterile preparations.


Subject(s)
Mobile Applications , Pharmacy Service, Hospital , Pharmacy , Adult , Humans , Drug Compounding , Pharmaceutical Preparations
SELECTION OF CITATIONS
SEARCH DETAIL