Aspectos a considerar para el diagnóstico del queratocono infantil

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.

Medium Chain Acyl CoA Dehydrogenase Deficiency and Eating Disorders: An Underreported Coincidence

Abstract Medium chain acyl-coA dehydrogenase deficiency (MCADD), the most common fatty acid oxidation disorder, has been regarded as a relatively benign condition with low risk of mortality in patients with a known diagnosis, if adequate caloric intake is met. However, inadequate energy provision, as occurs in eating disorders, significantly amplifies the risk of metabolic decompensation. This case series describes four patients with MCADD and a concomitant eating disorder and aims to raise awareness of the potentially under-recognised coexistence of these conditions. All patients were female with signs of disordered eating in adolescence and young adulthood though latency in diagnosis was apparent. Three of the patients had low body mass index (BMI) and the other was overweight. Metabolic decompensation and hospitalisation occurred in three of four patients secondary to extreme risk-taking behaviour with caloric restriction. The coexistence of MCADD and eating disorders is of significant concern, placing the patient at substantial risk of decompensation in an otherwise relatively stable metabolic condition. Awareness of disordered eating in this population is paramount, as early recognition of signs and symptoms of eating disorders in the MCADD population may facilitate prompt intervention and avoidance of morbidity and potential mortality.

Challenging diagnosis of Plasmodium ovale malaria in a Colombian traveler: the importance of including P. ovale wallikeri in molecular screening

ABSTRACT This study reports a challenging diagnosis of Plasmodium ovale malaria in a Colombian citizen returning from Cameroon. Initial microscopy screenings conducted at two private hospitals yielded conflicting results, with the first showing negative smears and the second diagnosing P. vivax. Subsequent microscopy examinations at two government laboratories identified P. ovale, although the routine species-specific PCR strategy was negative. PCR confirmation was finally obtained when P. ovale wallikeri primers were used. Although P. ovale is not frequently found in Colombia, there is a clear need to include both P. ovale curtisi and P. ovale wallikeri in the molecular diagnostic strategy. Such need stems primarily from their extended latency period, which affects travelers, the increasing number of African migrants, and the importance of accurately mapping the distribution of Plasmodium species in Colombia.

Comparison of refractometric measurements obtained with a portable autorefractor and conventional methods of refraction in schoolchildren / Comparação de medidas refratométricas obtidas com autorrefrator portátil e métodos convencionais de refração em escolares

ABSTRACT Objective: To assess the performance of a portable autorefractor as refractor and screening tool for refractive errors in schoolchildren. Methods: Cross-sectional observational study. Refractometric measurements of children between 5 and 10 years old were obtained through four methods: 2WIN under non-cycloplegic conditions, and 2WIN, conventional autorefractor, and retinoscopy, under cycloplegic conditions. Correlations and agreement between the methods and accuracy of the portable autorefractor to define whether to prescribe glasses were assessed. Results: The mean age ± standard deviation was 6.87 ± 1.42 years. The portable autorefractor without cycloplegia showed a high correlation with retinoscopy (0.77) but tended to underestimate hyperopia and overestimate high astigmatism. Regarding screening for prescription of glasses in comparison with the reference method "retinoscopy," the sensitivity of the portable autorefractor without cycloplegia was calculated to be 100,00% and the specificity, 34.3%. Conclusion: The portable autorefractor should be used as a screening tool and, when prescribing glasses, the tendency of underestimating hyperopia and overestimating high astigmatism should be kept in mind.

RESUMO Objetivo: Avaliar o desempenho de um autorrefrator portátil como refrator e ferramenta de triagem para erros de refração em crianças em idade escolar. Métodos: Estudo observacional transversal. As medidas refratométricas de crianças de 5 a 10 anos foram obtidas por meio de quatro métodos: 2WIN em condições não cicloplégicas e 2WIN, autorrefrator convencional e retinoscopia, em condições cicloplégicas. Foram avaliadas as correlações e a concordância entre os métodos e a acurácia do autorrefrator portátil para definir a prescrição de óculos. Resultados: A média de idade ± desvio-padrão foi de 6,87 ± 1,42 anos. O autorrefrator portátil sem cicloplegia apresentou alta correlação com a retinoscopia (0,77), mas tendeu a subestimar a hipermetropia e a superestimar o alto astigmatismo. Em relação à triagem para prescrição de óculos em comparação com o método de referência retinoscópio, a sensibilidade do autorrefrator portátil sem cicloplegia foi calculada em 100,00% e a especificidade, em 34,3%. Conclusão: O autorrefrator portátil deve ser usado como ferramenta de triagem e, ao se prescreverem óculos, deve-se ter em mente a tendência de subestimar a hipermetropia e superestimar o alto astigmatismo.

Cystic fibrosis: when neonatal screening is unsatisfactory for early diagnosis / Fibrose cística: quando a triagem neonatal é insatisfatória para o diagnóstico precoce

Abstract Introduction: cystic fibrosis newborn screening must enable its earlier diagnosis, which may enhance outcomes. This study was a series case of delayed-diagnosis children submitted to cystic fibrosis newborn screening. Description: fourteen children were included; eight (57.1%) were due to false-negative screening, while six (42.9%) were due to processing errors. Two samples collected after 30 days of life were incorrectly classified as negative, and four infants with a positive test could not be located due to screening processing errors. Cystic fibrosis diagnosis was confirmed at a median (IQR) age of 5.3 (4.2-7.4) months. Poor nutritional status was the most prevalent clinical sign at diagnosis, being present in 78.6% of infants. The mean (SD) weight-for-length and length-for-age Z-scores were -3.46 (0.84) and -3.99 (1.16), respectively. Half of the children had Pseudo-Bartter syndrome, and 42.9% had breathing difficulties. Twelve children (85.7%) required hospitalization, with a median (IQR) length of stay of 17.0 (11.5-26.5) days. Discussion: newborn screening had some faults, from incorrect collections to inefficient active search. Early identification of these children in which screening was unsatisfactory is essential, emphasizing the importance and efforts to not miss them. In the case of a failed test, healthcare professionals must be prepared to recognize the main symptoms and signs of the disease.

Resumo Introdução: a triagem neonatal para fibrose cística deve contribuir para diagnóstico precoce e melhor prognóstico da doença. O estudo é uma série de casos com lactentes submetidos à triagem, porém com diagnóstico tardio da doença. Descrição: quatorze crianças foram incluídas; oito (57,1%) com triagem falso-negativo e seis (42,9%) com erros processuais na triagem neonatal. Duas amostras foram coletadas tardiamente, sendo incorretamente classificadas como negativas e quatro lactentes com triagem positiva não foram localizados, por erros na busca ativa. Confirmou-se o diagnóstico da fibrose cística com idade mediana (IIQ) de 5,3 (4,2-7,4) meses. O Comprometimento nutricional precoce foi o sinal clínico mais prevalente ao diagnóstico, presente em 78,6% das crianças. Os Z escores médios (SD) do peso para altura e altura para idade foram -3,46 (0,84) e -3,99 (1,16), respectivamente. Metade das crianças teve síndrome de Pseudo-Bartter e 42,9% dificuldade respiratória. Doze crianças (85,7%) precisaram hospitalização com tempo mediano de permanência de 17 dias. Discussão: a triagem neonatal para fibrose cística apresentou falhas, desde testes falso-negativos, coletas incorretas, até problemas com a busca ativa. Entretanto, o diagnóstico ágil é essencial e os profissionais de saúde devem reconhecer os sintomas e sinais precoces da doença, mesmo quando a triagem neonatal não for satisfatória.

Prevalence of errors causing events allegedly attributable to vaccination/immunization: systematic review and meta-analysis / Prevalencia de errores causantes de acontecimientos supuestamente atribuibles a la vacunación/inmunización: revisión sistemática y metanálisis / Prevalência de erros que causaram eventos supostamente atribuíveis à vacinação/imunização: revisão sistemática e metanálise

ABSTRACT Objective: To identify the prevalence of errors that caused events supposedly attributable to vaccination or immunization. Method: Systematic literature review with meta-analysis carried out on the Medline, Cochrane Library, Cinahl, Web of Science, Lilacs, Scopus; Embase; Open Grey; Google Scholar; and Grey Lit databases; with studies that presented the prevalence of immunization errors that caused events or that provided data that allowed this indicator to be calculated. Results: We evaluated 11 articles published between 2010 and 2021, indicating a prevalence of 0.044 errors per 10,000 doses administered (n=762; CI95%: 0.026 - 0.075; I2 = 99%, p < 0.01). The prevalence was higher in children under 5 (0.334 / 10,000 doses; n=14). The predominant events were fever, local pain, edema and redness. Conclusion: A low prevalence of errors causing events was identified. However, events supposedly attributable to vaccination or immunization can contribute to vaccine hesitancy and, consequently, have an impact on vaccination coverage.

RESUMEN Objetivo: Identificar la prevalencia de errores que causaron eventos supuestamente atribuibles a la vacunación o inmunización. Método: Revisión sistemática de la literatura con metaanálisis realizada en las bases de datos Medline, Cochrane Library, Cinahl, Web of Science, Lilacs, Scopus; Embase; Open Grey; Google Scholar; y Grey Lit; con estudios que presentaran la prevalencia de errores de inmunización que causaron eventos o que aportaran datos que permitieran calcular este indicador. Resultados: Se evaluaron 11 artículos publicados entre 2010 y 2021, indicando una prevalencia de 0,044 errores por cada 10.000 dosis administradas (n=762; IC95%: 0,026 - 0,075; I2 = 99%, p < 0,01). La prevalencia fue mayor en niños menores de 5 años (0,334 / 10.000 dosis; n=14). Los eventos predominantes fueron fiebre, dolor local, edema y enrojecimiento. Conclusión: Se identificó una baja prevalencia de eventos causantes de errores. Sin embargo, los eventos supuestamente atribuibles a la vacunación o inmunización pueden contribuir a la indecisión sobre la vacunación y, en consecuencia, repercutir en la cobertura vacunal.

RESUMO Objetivo: Identificar a prevalência de erros que causaram eventos supostamente atribuíveis à vacinação ou imunização. Método: Revisão sistemática da literatura com metanálise realizada nas bases Medline, Cochrane Library, Cinahl, Web of Science, Lilacs, Scopus; Embase; Open Grey; Google Scholar; e Grey Lit; com estudos que apresentassem prevalência de erros de imunização que causaram eventos ou que disponibilizassem dados que permitissem o cálculo deste indicador. Resultados: Avaliou-se 11 artigos publicados entre 2010 e 2021, apontando prevalência de 0,044 erros por 10.000 doses administradas (n=762; IC95%: 0,026 - 0,075; I2= 99%, p < 0,01). A prevalência foi maior em crianças menores de 5 anos (0,334 / 10.000 doses; n=14). Quanto aos eventos, predominou-se: febre, dor local, edema, rubor. Conclusão: Identificou-se uma prevalência baixa de erros que causaram eventos. Entretanto, os eventos supostamente atribuíveis à vacinação ou imunização podem contribuir para a hesitação vacinal e, consequentemente, impactar nas coberturas vacinais.

Evaluation of newborn screening in the state of Mato Grosso from 2005 to 2019 / Avaliação da triagem neonatal no Estado de Mato Grosso no período de 2005 a 2019

ABSTRACT Objective: To evaluate quality indicators of the Neonatal Screening Referral Service of the state of Mato Grosso (NSRS-MT) from 2005 to 2019. Methods: Cross-sectional, retrospective, exploratory, descriptive, and observational study from 2005 to 2019. The following parameters were analyzed: age of newborns at the first collection, time between sample collection and arrival at the laboratory, time between the arrival and release of results and time between requesting the second sample and arrival at the NSRS. The population coverage of the program and the incidence of each clinical situation screened were also analyzed. Results: NSRS-MT coverage was analyzed and recorded as 76%. The incidence was analyzed for congenital hypothyroidism (CH) 1:1867, phenylketonuria (PKU) 1:33,311, sickle cell disease (SCD) 1:2004, cystic fibrosis (CF) 1:12,663, congenital adrenal hyperplasia (CAH) 1:15,843, and biotinidase deficiency (DB) 1:25,349. The median age (days) at the first consultation was: 44 for HC, 22 for PKU, 60 for DF, 52 for FC, 79 for HAC and 79 for DB. The mean time between exam collection and delivery to the NSRS was 8.4 days; between the arrival and release of results, 9 days; and for the return of recalls, 59 days. Conclusions: Regarding the coverage of the target population and collection at the ideal age, the NSRS-MT presents values below the national average. However, regarding the mean age at the time of the first consultation, the state's performance is better than the national.

RESUMO Objetivo: Avaliar indicadores de qualidade do Serviço de Referência em Triagem Neonatal do Estado de Mato Grosso (SRTN/MT) no período de 2005 a 2019. Métodos: Estudo transversal, retrospectivo, exploratório, descritivo e observacional, que utilizou dados do formulário FormSUS nos anos de 2005 a 2019. Foram analisados os seguintes parâmetros: idade dos recém-nascidos na primeira coleta, tempo entre coleta da amostra e chegada ao laboratório, tempo entre a chegada e a liberação dos resultados e tempo entre a solicitação da segunda amostra até a chegada ao SRTN. Foram analisadas, também, a cobertura populacional do programa e a incidência de cada situação clínica triada. Resultados: Cobertura do SRTN-MT: 76%. Incidências: hipotireoidismo congênito (HC) 1:1.867, fenilcetonúria (PKU) 1:33.311, doença falciforme (DF) 1:2.004, fibrose cística (FC) 1:12.663, hiperplasia adrenal congênita (HAC) 1:15.843 e deficiência de biotinidase (DB) 1:25.349. A mediana da idade (dias) na primeira consulta foi: 44 para HC, 22 para PKU, 60 para DF, 52 para FC, 79 para HAC e 79 para DB. A média entre a coleta do exame e a entrega no SRTN foi de 8,4 dias; entre a chegada e liberação dos resultados, de 9 dias; e para o retorno de reconvocados, de 59 dias. Conclusões: Com relação à cobertura da população alvo e a coleta na idade ideal, o SRTN apresenta valores abaixo da média nacional. Contudo, quanto à idade média no momento da primeira consulta, o desempenho de MT é melhor que a média nacional.

Giant adenoma of the gallbladder misdiagnosed as gallbladder carcinoma： A case report / 临床肝胆病杂志

One patient with gallbladder mass had transient jaundice and was diagnosed with gallbladder carcinoma by abdominal ultrasonography， contrast-enhanced CT， MRCP， and PET-CT. Surgical exploration showed enlarged gallbladder and a mass in the neck of the gallbladder pressing against the hilum of the liver， with no manifestation of tumor invasion， and there were no signs of liver metastasis. Only cholecystectomy was performed for the patient. The pathological diagnosis was tubular adenoma of the gallbladder without carcinogenesis. This case is characterized by a large gallbladder tumor， without marginal infiltration on imaging or malignant transformation based on pathology.

Application of Pentacam TNP in calculating the intraocular lens power after corneal refractive surgery / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To assess the accuracy of predicting intraocular lens(IOL)power after myopic refractive surgery using the Pentacam system's true net power(TNP)in the 3 mm zone combined with the SRK/T formula [i.e. TNP 3 mm(SRK/T)].METHODS: Retrospective study. This study enrolled 35 cases(50 eyes)of patients undergoing cataract surgery after laser assisted in situ keratomileusis(LASIK)or photorefractive keratectomy(PRK)from July 2019 to December 2021. Preoperatively, IOL power of 50 eyes, 34 eyes and 41 eyes was calculated by TNP 3 mm(SRK/T), Barrett True-K and Olsen 2 formulas, respectively, with at least 2 formulas used to calculate IOL power for each patient. The actual diopter was recorded 3 mo postoperatively. Prediction errors(PE)of IOL power were compared among the three calculation methods, and the proportion of eyes with PE within ±0.5 D and ±1.0 D was analyzed.RESULTS: The PE at 3 mo postoperatively for TNP 3 mm(SRK/T), Barrett True-K, and Olsen 2 was -0.02±0.63, -0.54±0.80, and 0.25±0.80 D, respectively(P&#x003C;0.001). The proportions of PE within ±0.5 D were 66%(33/50), 44%(15/34)and 37%(15/41), respectively(P&#x003C;0.05); the proportions of PE within ±1.0 D were 88%(44/50), 71%(24/34)and 80%(33/41), respectively(P&#x003E;0.05).CONCLUSION: The Pentacam TNP 3 mm(SRK/T)method is simple to operate and provides accurate calculation of IOL power after corneal refractive surgery.

Misdiagnosis of intrapancreatic accessory spleen： A report of two cases / 临床肝胆病杂志

Accessory spleen refers to the spleen tissue that exists outside of the normal spleen， with a similar structure to the main spleen and certain functions. Intrapancreatic accessory spleen （IPAS） completely enveloped by the pancreas has an incidence rate of only 2%， and it is easily misdiagnosed in clinical practice due to its atypical clinical symptoms and similar radiological features to pancreatic neuroendocrine tumor， pancreatic solid pseudopapillary tumor， and other pancreatic space-occupying lesions. This article reports the clinical data of two patients with IPAS who were misdiagnosed as pancreatic neuroendocrine tumor and pancreatic solid pseudopapillary tumor， respectively， analyzes the reasons for misdiagnosis， and summarizes the experience in diagnosis and treatment， in order to improve the ability for the differential diagnosis of IPAS in clinical practice.

Application of FMEA model and 6S management method in reducing dispensing errors in PIVAS of children’s hospitals / 中国药房

OBJECTIVE To reduce dispensing errors in pharmacy intravenous admixture service （PIVAS） of children’s hospitals. METHODS The risk of dispensing procedures in our PIVAS was identified by applying failure mode and effect analysis （FMEA） model. Potential failure modes that might lead to dispensing errors in each link were determined， and failure causes were analyzed. The severity， incidence and detection degree of potential failure modes were quantitatively scored， and their risk priority number （RPN） was calculated to screen failure modes that needed to be improved in priority； the corresponding improvement measures were developed by 6S management method from six aspects， namely， finishing （seiri）， rectifying （seiton）， sweeping （seiso）， sanitation （seiketsu）， literacy （shitsuke） and safety. The effect of intervention before and after rectification was evaluated. RESULTS Based on the RPN， 32 potential failure modes were selected， of which a total of 18 critical failure modes that needed to be improved in priority. After implementing corresponding measures according to 6S management method， the RPN of 18 critical failure modes decreased. The total RPN decreased from 497 to 142 with a decrease rate of 71.43%. The error rates of 15 critical failure modes were significantly lower than before implementation （P＜0.05）. CONCLUSIONS Applying FMEA model and 6S management method to the risk control of all aspects of PIVAS workflow can effectively reduce the risk of PIVAS dispensing errors and ensure the safety of children’s intravenous medication.

Nurseped: tecnología educativa para la seguridad en el manejo de antibióticos intravenosos en pediatría / Nurseped: educational technology for safety in the management of intravenous antibiotics in pediatrics / Nurseped: tecnologia educacional para a segurança no manejo de antibióticos endovenosos em pediatria

Objetivo: desarrollar y validar el contenido de un serious game sobre el manejo seguro de medicamentos intravenosos en pediatría. Método: estudio metodológico para el desarrollo y validación de contenido de una tecnología educativa. Los casos y desafíos del serious game se basaron en una revisión de la literatura y fueron validados por 11 enfermeros con formación y experiencia en el área. Se adoptaron índices de validez de contenido y concordancia para el análisis de concordancia y consistencia interna (mínimo de 0,8). Resultados: el contenido se basa en los principales antibióticos utilizados en el manejo clínico de infecciones en niños hospitalizados y en la seguridad del paciente. Se obtuvo una concordancia absoluta en 60 de los 61 ítems evaluados, y el mínimo obtenido fue de 0,82 en el índice de validación de contenido y 0,80 en concordancia. Los expertos sugirieron ajustes en la formulación de respuestas de un caso específico y se implementaron para mejorar la calidad del contenido de la tecnología. Conclusión: el contenido del serious game Nurseped fue validado por enfermeros expertos en salud infantil en cuanto a casos clínicos, enunciados de preguntas y respuestas de opción múltiple, además del feedback que presenta al usuario una respuesta basada en evidencia tras acertar o fallar en el desafío.

Objective: to develop and validate the content of a serious game on the safe management of intravenous medications in pediatrics. Method: methodological study for the development and content validation of an educational technology. The cases and challenges of the serious game were developed based on a literature review and validated by 11 nurses with training and experience in the area. Content validity and agreement indices were adopted to analyze agreement and internal consistency (minimum of 0.8). Results: the content is based on the main antibiotics used in the clinical management of infections in hospitalized children and patient safety. Absolute agreement was obtained in 60 of the 61 items evaluated, and the minimum obtained was 0.82 in the content validation index and 0.80 in agreement. Adjustments were suggested by experts in the response statement for a specific case and implemented to improve the quality of the technology content. Conclusion: the content of the serious game Nurseped was validated by nurse experts in child health regarding clinical cases, question statements and multiple-choice answers, in addition to feedback that presents the user with an evidence-based answer after getting the challenge right or wrong.

Objetivo: desenvolver e validar o conteúdo de um serious game sobre o manejo seguro de medicamentos endovenosos em pediatria. Método: estudo metodológico para o desenvolvimento e validação de conteúdo de uma tecnologia educacional. Os casos e desafios do serious game foram desenvolvidos com base em revisão da literatura e validados por 11 enfermeiros com formação e atuação na área. Adotou-se os índices de validade de conteúdo e concordância, para análise de concordância e consistência interna (mínimo de 0,8). Resultados: o conteúdo é baseado nos principais antibióticos utilizados no manejo clínico de infecções em crianças hospitalizadas e na segurança do paciente. Obteve-se concordância absoluta em 60 dos 61 itens avaliados, o mínimo obtido foi 0,82 no índice de validação de conteúdo e 0,80 na concordância. Ajustes foram sugeridos pelos experts no enunciado de respostas de um caso específico e implementados para o aprimoramento da qualidade do conteúdo da tecnologia. Conclusão: o conteúdo do serious game Nurseped foi validado por enfermeiros experts em saúde da criança quanto aos casos clínicos, aos enunciados das perguntas e às respostas de múltipla escolha, além do feedback que apresenta ao usuário uma resposta baseada em evidências após o acerto ou erro do desafio.

Hipoglicemia hipocetósica por deficiencia de carnitina en un niño

Durante el ayuno, la oxidación de ácidos grasos y la formación de cuerpos cetónicos son necesarios para la producción de energía. La carnitina es esencial para que los ácidos grasos de cadena larga se transfieran a la mitocondria para la oxidación de ácidos grasos. La deficiencia primaria de carnitina es un defecto recesivo que se expresa con un espectro clínico amplio que incluye descompensación metabólica, hipoglicemia hipocetósica o cardiomiopatía en la niñez, fatigabilidad en la adultez o ausencia de síntomas. En nuestro país no hay publicaciones sobre el tema, por lo que en el presente artículo se reporta el caso de un niño que presentó una deficiencia de carnitina expresada como hipoglicemia hipocetósica y se analiza sus hallazgos clínicos, bioquímicos e histopatológicos.

During fasting, the oxidation of fatty acids and the formation of ketone bodies are necessary for energy production. Carnitine is essential for long-chain fatty acids to be transferred to the mitochondria for fatty acid oxidation. Primary carnitine deficiency is a recessive defect that is expressed with a broad clinical spectrum that includes metabolic decompensation, hypoketotic hypoglycemia or cardiomyopathy in childhood, fatiguability in adulthood or absence of symptoms. In our country there are no publications on the subject, so this article reports the case of a child who had carnitine deficiency expressed as hypoketotic hypoglycemia and its clinical, biochemical and histopathological findings are analyzed.

Atención farmacéutica en pacientes con inmunodeficiencia adquirida y/o tuberculosis en el área ambulatoria de un hospital pediátrico / Pharmacovigilance in patients with acquired immunodeficiency and/or tuberculosis in the outpatient area of a pediatric hospital

La Atención farmacéutica (AF) ayuda a los pacientes a alcanzar objetivos terapéuticos reduciendo los problemas relacionados al medicamento (PRM). Objetivos: analizar los PRM en la práctica de la AF a pacientes con inmunodeficiencia adquirida (IDA) y/o tuberculosis (TBC) y evaluar su impacto. Método: estudio, descriptivo, observacional, en el área ambulatoria de Farmacia. Se incluyeron pacientes con IDA y/o TBC con: inicio de tratamiento, polifarmacia, reinternaciones frecuentes, regular/mala adherencia, reacciones adversas a medicamentos (RAM) previas y/o comorbilidades. Se entrevistaron pacientes o cuidadores y se registraron PRM, errores, grados de adherencia y conocimiento farmacoterapéutico, retiro oportuno de medicamentos y parámetros clínicos. Se registró la intervención farmacéutica y entregó material educativo. Se repitieron las mediciones en una segunda entrevista. Resultados: Se estudiaron 54 pacientes (28 con IDA y 26 con TBC). Se realizaron 93 intervenciones (29.9% dirigidas al prescriptor, 27.8% a otros profesionales) y se detectaron 8 RAM y 53 errores (28 IDA y 25 TBC), el principal PRM fue la mala/regular adherencia con bajo porcentaje de conocimiento farmacoterapéutico completo. Después de la AF, en IDA el grado de adherencia tuvo una mejora estadísticamente significativa (p= 0.012), también fue significativa la mejora en el retiro oportuno de la medicación (28.6% a 71.4% p=0.005 IDA). Se obtuvieron resultados favorables de carga viral (CV) en 72% pacientes con IDA y aumento de peso en 92% pacientes con TBC, aunque no fueron estadísticamente significativos. Conclusiones: mediante AF se mejoró la adherencia y la comunicación en pacientes pediátricos con IDA y/o TBC (AU)

Pharmacovigilance (PV) helps patients achieve therapeutic goals by reducing drug-related problems (DRP). Objectives: to analyze DRPs in the practice of PV in patients with acquired immunodeficiency (AIDS) and/or tuberculosis (TB) and to evaluate its impact. Methods: A descriptive, observational study was conducted in the outpatient pharmacy area. Patients with AIDS and/or TB with: treatment initiation, polypharmacy, frequent readmissions, regular/poor adherence, previous adverse drug reactions (ADR) and/or comorbidities were included. Patients or caregivers were interviewed, and DRP, errors, adherence and pharmacotherapeutic knowledge, timely drug withdrawal, and clinical parameters were recorded. The pharmaceutical intervention was recorded and educational material was delivered. Measurements were repeated in a second interview. Results: We studied 54 patients (28 with AIDS and 26 with TB). Ninety-three interventions were performed (29.9% addressed to the drug prescriber, 27.8% to other professionals) and 8 ADRs and 53 errors were detected (28 AIDS and 25 TB). The main DRP was poor/regular adherence together with a low level of complete pharmacotherapeutic knowledge. After PV, in patients with AIDS the degree of adherence statistically significantly improved (p= 0.012). The improvement in timely medication withdrawal was also significant (28.6% vs. 71.4% p=0.005 AID). Favorable viral load results were obtained in 72% of patients with AIDS and weight gain in 92% of patients with TB, although they were not statistically significant. Conclusions: PV improved adherence and communication in pediatric patients with AIDS and/or TB (AU)

ChatGPT: oportunidades y riesgos en la asistencia, docencia e investigación médica / ChatGPT: opportunities and risks in the fields of medical care, teaching, and research

Resumen ChatGPT es un asistente virtual con inteligencia artificial que utiliza lenguaje natural para comunicarse, es decir, mantiene conversaciones como las que se tendrían con otro humano. Puede aplicarse en educación a todos los niveles, que incluye la educación médica, tanto para la formación, la investigación, la escritura de artículos científicos, la atención clínica y la medicina personalizada. Puede modificar la interacción entre médicos y pacientes para mejorar los estándares de calidad de la atención médica y la seguridad, por ejemplo, al sugerir medidas preventivas en un paciente que en ocasiones no son consideradas por el médico por múltiples causas. Los usos potenciales del ChatGPT en la educación médica, como una herramienta de ayuda en la redacción de artículos científicos, un asistente en la atención para pacientes y médicos para una práctica más personalizada, son algunas de las aplicaciones que se analizan en este artículo. Los aspectos éticos, originalidad, contenido inapropiado o incorrecto, citas incorrectas, ciberseguridad, alucinaciones y plagio son ejemplos de las situaciones a tomar en cuenta al usar las herramientas basadas en inteligencia artificial en medicina.

Abstract ChatGPT is a virtual assistant with artificial intelligence (AI) that uses natural language to communicate, i.e., it holds conversations as those that would take place with another human being. It can be applied at all educational levels, including medical education, where it can impact medical training, research, the writing of scientific articles, clinical care, and personalized medicine. It can modify interactions between physicians and patients and thus improve the standards of healthcare quality and safety, for example, by suggesting preventive measures in a patient that sometimes are not considered by the physician for multiple reasons. ChatGPT potential uses in medical education, as a tool to support the writing of scientific articles, as a medical care assistant for patients and doctors for a more personalized medical approach, are some of the applications discussed in this article. Ethical aspects, originality, inappropriate or incorrect content, incorrect citations, cybersecurity, hallucinations, and plagiarism are some examples of situations to be considered when using AI-based tools in medicine.

Interferencia generada por la lipemia en la medición de constituyentes bioquímicos

Introducción. La turbidez por lipemia en las muestras para diagnóstico es una de las principales causas de la aparición de sesgos clínicamente significativos en la medición de magnitudes bioquímicas. Objetivo. Valorar la interferencia por lipemia en la medición de 25 constituyentes bioquímicos en dos analizadores con tecnología de química seca (Vitros 7600®) y química liquida (Atellica® Solution). Métodos. Estudio pre-experimental con pre y posprueba. Se añadieron cantidades crecientes de una emulsión lipídica de nutrición parenteral a siete alícuotas de una mezcla de sueros y se determinó por duplicado la influencia del interferente en 25 constituyentes. Se calculó el porcentaje relativo de desviación de la concentración del constituyente por influencia de la turbidez con respecto a una muestra sin interferente. Se establecieron límites de tolerancia para la interferencia utilizando tres criterios: del distribuidor de reactivos, del error sistemático deseable y del error máximo admisible. Resultados. Los constituyentes que presentaron los mayores sesgos para el analizador de química liquida fueron: fósforo (-84,72%), ALT (+81,25%) y AST (-75,76%), mientras que para la plataforma de química seca los constituyentes: ALT (-79,41%), CK (-28,92%) y lipasa (+24,85%). Se detectó interferencia significativa en diferente número de los constituyentes de acuerdo con el criterio de límite tolerable utilizado. Conclusiones. Los distintos resultados encontrados según la metodología y el analizador utilizado, además de la falta de replicabilidad de los ensayos para la valoración de interferencia por lipemia, origina la necesidad de armonizar los procesos e instaurar límites idénticos de interferencia tolerables entre los laboratorios y proveedores de insumos.

Introduction. Turbidity due to lipemia in diagnostic samples is one of the main causes of the appearance of clinically significant biases in the measurement of biochemical magnitudes. Objective. To assess the interference by lipemia in the measurement of 25 biochemical constituents in two analyzers with dry chemistry technology (Vitros 7600®) and liquid chemistry (Atellica® Solution). Methods. Pre-experimental study with pre and post test. Increasing amounts of a parenteral nutrition lipid emulsion were added to seven aliquots of pooled sera and the influence of the interferent on 25 constituents was determined in duplicate. The relative percentage deviation of the concentration of the constituent due to the influence of turbidity with respect to a sample without interference, was calculated. Tolerance limits for interference were established using three criteria: reagent distributor, desirable systematic error, and maximum permissible error. Results. The constituents that presented the greatest biases for the liquid chemistry analyzer were: Phosphorus (-84.72%), ALT (+81.25%) and AST (-75.76%), while for the dry chemistry platform the constituents, ALT (-79.41%), CK (-28.92%) and lipase (+24.85%). Significant interference was detected in a different number of constituents according to the tolerable limit criteria used. Conclusions. The different results found according to the methodology and the analyzer used, in addition to the lack of replicability of the tests for the evaluation of interference by lipemia, originates the need to harmonize the processes and establish identical limits of tolerable interference between the laboratories and suppliers of inputs.

Perfil de atención de pacientes con errores congénitos del metabolismo en un hospital pediátrico entre 2008 y 2018 / Profile of care of patients with inborn errors of metabolism in a pediatric hospital between 2008 and 2018 / Perfil do atendimento de pacientes com erros inatos do metabolismo em um hospital pediátrico entre 2008 e 2018

Resumen Los errores congénitos del metabolismo (ECM) son un grupo de enfermedades poco frecuentes que generan gran morbimortalidad. El objetivo de este trabajo fue describir el perfil de atención clínico y bioquímico de los ECM no incluidos en la pesquisa neonatal en menores de 15 años atendidos en un hospital pediátrico, entre enero de 2008 y diciembre de 2018. Se realizó un estudio descriptivo y retrospectivo en el que se evaluaron los registros hospitalarios: motivo de consulta, diagnóstico, evolución clínica, tiempos y costos diagnósticos de pacientes con sospecha y diagnóstico confirmado de ECM entre 2008 y 2018 en un hospital público pediátrico de Mendoza, Argentina. Se incluyeron 59 pacientes con ECM: enfermedades de depósito lisosomal (32,2%) y alteración metabólica de aminoácidos y acidurias orgánicas (27,1%), entre otros. La edad media fue de 2,6 años y la relación varón/mujer 1,5. La media de tiempo entre la primera consulta por sospecha de ECM y el diagnóstico fue de 11 meses. Hubo correspondencia entre el diagnóstico y el motivo de consulta (p=0,003). El 22% evolucionó al deterioro progresivo, 25,4% permanecieron estables, 28,8% con secuelas y 23,8% fallecieron. El costo directo total de los exámenes bioquímicos fue 61 560 UB=1 809 248 pesos argentinos=46 785 dólares estadounidenses (valor a finales de 2018). En conclusión, este trabajo refleja la variabilidad de los ECM, su evolución clínica, similar a lo publicado y el perfil bioquímico local.

Abstract Inborn errors of metabolism (IEM) are a group of rare diseases that cause high morbidity and mortality. The objective of the present study was to describe the clinical-biochemical profile of patients, under 15 years old, with IEM not included in newborn screening, in a pediatric hospital, from January 2008 to December 2018. A descriptive and retrospective study was carried out in which hospital records were evaluated: reason for consultation, diagnosis, clinical evolution, diagnostic times and costs of patients with suspected and confirmed diagnosis of IEM between 2008 and 2018 in a public pediatric hospital from Mendoza, Argentina. A total of 59 patients with IEM were evaluated: lysosomal storage diseases (32.2%) and metabolic alteration of amino acids and organic acidurias (27.1%), among others. The mean age was 2.6 years and the male/female ratio was 1.5. The mean time between the first consultation for suspected IEM and diagnosis was 11 months. There was correspondence between the diagnosis and the reason for consultation (p=0.003). Twenty-two percent evolved to progressive deterioration, 25.4% remained stable, 28.8% with sequelae and 23.8% died. The total direct cost of the biochemical tests was 61 560 UB=1 809 248 Argentine pesos=46 785 US dollars (value at the end of 2018). Concluding, this work reflects the variability of IEM and its clinical evolution, similar to what has been published, and the local biochemical profile.

Resumo Os erros inatos do metabolismo (EIM) são um grupo de doenças pouco frequentes que geram alta morbimortalidade. O objetivo deste trabalho foi descrever o perfil clínico e bioquímico de atendimento dos EIM não incluídos na triagem neonatal em menores de 15 anos atendidos em um hospital pediátrico, entre janeiro de 2008 e dezembro de 2018. Foi realizado um estudo descritivo e retrospectivo em que foram avaliados os registros hospitalares: motivo da consulta, diagnóstico, evolução clínica, tempos e custos diagnósticos de pacientes com diagnóstico suspeito e confirmado de EIM entre 2008 e 2018 em um hospital pediátrico público em Mendoza, Argentina. Foram avaliados 59 pacientes com EIM: doenças de depósito lisossômico (32,2%) e alteração metabólica de aminoácidos e acidúrias orgânicas (27,1%), entre outras. A média de idade foi de 2,6 anos e a relação homem/mulher foi de 1,5. O tempo médio entre a primeira consulta por suspeita de EIM e o diagnóstico foi de 11 meses. Houve correspondência entre o diagnóstico e o motivo da consulta (p=0,003). Evoluíram 22% para piora progressiva, 25,4% permaneceram estáveis , 28,8% com sequelas e 23,8% faleceram. O custo direto total dos testes bioquímicos foi de 61 560 UB=1 809 248 pesos argentinos=46 785 U$S (valor no final de 2018). Concluindo, este trabalho reflete a variabilidade da EIM e sua evolução clínica, semelhante ao que vem sendo publicado, e o perfil bioquímico local.

Modelo del queso suizo para el sustento de la cultura de seguridad del paciente en un hospital

Algunos de los roles que desarrollan las personas, coinciden en el espacio físico y mental de otros actores; estas acciones están en correspondencia con diferentes esferas temporales de la vida, como se visualiza en el modelo del queso suizo de James Reason. Esta revisión tiene el propósito de sistematizar en los supuestos teóricos del modelo del queso suizo para el sustento de la cultura de seguridad del paciente en un hospital. El modelo sostiene que cada sistema de atención posee una serie de muros o espacios que separan los elementos de la exposición a daños, ubicadas paralelamente unas con otras; sin embargo, se comunican a través de agujeros que pueden convertirse en fuentes de exposición. En la cultura justa, la persona debe conocer qué tipos de comportamientos inseguros son aceptados y cuáles no. Se concluye que la cultura de seguridad del paciente debe ser entendida como un sistema no punitivo que trata de cobrar conciencia de que las cosas pueden ir mal, que es capaz de reconocer los errores, de aprender de ellos y de actuar para mejorar, en tal sentido el modelo del queso suizo sustenta estos elementos.

Some of the roles that people develop coincide in the other actors' physical and mental space; these actions are in correspondence with different temporal spheres of life, as visualized in James Reason's Switzerland cheese model. This review purpose of systematizing the theoretical assumptions of the Switzerland cheese model for the patient safety culture support in hospitals. The model maintains that each care system has a series of walls or spaces that separate the elements of exposure to damage, located parallel to each other; however, they communicate through holes that can become sources of exposure. In the fair culture, the person must know what types of unsafe behavior are accepted and what are not. It is concluded that the patient safety culture must be understood as a non-punitive system that tries to become aware that things can go wrong, that it is capable of recognizing mistakes, learning from them and acting to improve, in this sense, the Switzerland cheese model supports these elements.

Clinical-demographic characteristics of patient with primary immunodeficiencies

Introduction: Primary immunodeficiencies are a heterogeneous group of genetic disorders that affect the functioning of the immune system. Primary immunodeficiencies can present with variable clinical features in early childhood and adulthood. Objective: To characterize patients diagnosed with primary immunodeficiencies clinically and demographically. Methods: A cross-sectional, descriptive, retrospective case series study was carried out with 39 patients of both sexes, diagnosed with primary immunodeficiencies, according to the latest International Union of Immunological Societies classification; attended from January 2012 to December 2021 in Granma. Age (at onset of symptoms, diagnosis, and delay in diagnosis), sex, family history, and clinical manifestations were evaluated. Data from medical records were collected. They were processed using descriptive statistics. Results: The age of onset of symptoms ranged from one month of life to 37 years, with a mean of 6.31 years; the average age of diagnosis was 11.89 years. Humoral deficiencies represented 69.23% of all primary immunodeficiencies and relative IgA deficiency predominated (11 cases). A family history of primary immunodeficiencies was reported by 12 patients. Recurrent infections (71.79%) and allergies (61.53%) were the most frequent manifestations; the mortality rate was 2.56%. Conclusions: Primary immunodeficiencies were more frequent in childhood, with the same behavior in both sexes. Infections, allergies, and a family history of primary immunodeficiency were important findings. Humoral immunodeficiencies were the most prevalent.

Introducción: Las inmunodeficiencias primarias son un grupo heterogéneo de trastornos genéticos que afectan el funcionamiento del sistema inmunológico. Pueden presentarse con características clínicas variables en la primera infancia y en la edad adulta. Objetivo: Caracterizar clínica y demográficamente a pacientes diagnosticados con inmunodeficiencias primarias. Métodos: Se realizó un estudio de serie de casos, transversal, descriptivo, retrospectivo, con 39 pacientes de ambos sexos, con diagnóstico de inmunodeficiencias primarias, según la última clasificación de la International Union of Immunological Societies; atendidos de enero de 2012 a diciembre de 2021 en Granma. Se evaluó la edad (de inicio de los síntomas, diagnóstico y retraso en el diagnóstico), sexo, antecedentes familiares y manifestaciones clínicas. Se recolectaron los datos de las historias clínicas. Se utilizó estadística descriptiva. Resultados: La edad de inicio de los síntomas osciló entre el mes de vida y los 37 años, con una media de 6,31 años; la edad media de diagnóstico fue de 11,89 años. Las deficiencias humorales representaron el 69,23 % de todas las inmunodeficiencias primarias y predominó el déficit relativo de IgA (11 casos). Reportaron antecedentes familiares de inmunodeficiencias primarias 12 pacientes. Las infecciones recurrentes (71,79 %) y las alergias (61,53 %) fueron las manifestaciones más frecuentes; la tasa de mortalidad fue de 2,56 %. Conclusiones: Las inmunodeficiencias primarias fueron más frecuentes en la infancia, con el mismo comportamiento en ambos sexos. Las infecciones, las alergias y los antecedentes familiares de inmunodeficiencia primaria fueron hallazgos importantes. Las inmunodeficiencias humorales fueron las más prevalentes.

Refractive profile of children treated with intravitreal bevacizumab for retinopathy of prematurity

Purpose: To study the refractive profile of children after they received intravitreal injection of bevacizumab for retinopathy of prematurity (ROP). Methods: The study was conducted at a tertiary eye care hospital in South India. ROP patients of more than 1 year of age, presenting to the Pediatric Ophthalmology Clinic and Retina Clinic and having history of treatment for type ? ROP with intravitreal bevacizumab (IVB) or intravitreal bevacizumab and laser photocoagulation were included in the study. Cycloplegic refraction was done, and the refractive status was evaluated. The refractive status of age?matched, full?term children with uneventful perinatal and neonatal history was also recorded and compared to the study group. Results: Among 134 eyes of 67 study subjects, the major refractive error was myopia in 93 eyes (69.4%; spherical equivalent [SE] = ?2.89 ± 3.1, range = ?11.5 to ?0.5 D). There were 75 eyes (56%) with low?to?moderate myopia; high myopia was seen in 13.4%, emmetropia in 18.7%, and hypermetropia in 11.9% of eyes. The majority of them (87%) had with?the?rule (WTR) astigmatism. In 134 eyes, the SE was ?1.78 ± 3.2 (range = ?11.5 to 4 D); the SE of the 75 eyes with low?to?moderate myopia was ?1.53 ± 1.2 (range = ?0.50 to ?5 D). In the control group, the majority had emmetropia (91.8%). There was no significant association between the age at which IVB had been injected and the development of refractive errors (P = 0.078). The prevalence of low?to?moderate myopia was more than high myopia in patients with zone ? and zone ? ROP before treatment (60.0% and 54.5%, respectively). Conclusion: Myopia was the major refractive error seen in post?IVB pediatric patients. WTR astigmatism was more commonly seen. The age at which IVB injection had been given had no effect on the development of refractive errors