Elaboración de una escala de puntuación predictiva de infección periamigdalina basada en signos y síntomas / Design of a predictive score table for peritonsillar infection based on signs and symptoms

Introducción La infección periamigdalina (IPA) supone un motivo de consulta urgente entre las molestias de garganta. Un diagnóstico diferido o incorrecto puede comprometer la vía aerodigestiva alta y resultar mortal en su evolución. Nuestro objetivo fue desarrollar un modelo predictivo de presencia de IPA que ayude en su rápida detección. Pacientes y métodos Un estudio observacional retrospectivo de 66 meses desde 2017 fue desarrollado en un hospital comarcal y su centro terciario de referencia, recogiendo datos de todos los pacientes diagnosticados de IPA y un volumen proporcional de sujetos con sintomatología faríngea sin IPA. Recopilación de datos clínicos, exploratorios y demográficos entre participantes. Su mayor riesgo relativo de presencia de IPA los etiquetó como variables a testar. Elaboración de una escala de puntuación de probabilidad de padecerla y análisis de regresión logística, con obtención de la curva ROC que ofreciera mejor correlación diagnóstica. Validación interna y cálculo de los valores predictivos de este modelo. Resultados Sobre 348 casos de IPA, la escala de valoración puntuó la presencia de 6 variables: trismus (3), disfagia-odinofagia unilateral (2), abombamiento velar (2), otalgia refleja (1), faringolalia (1) y edad de 16-46 años (1). Con un rango de 0 a 10, un cut-off≥6 ofreció una sensibilidad del 96,1%, una especificidad del 93,9% y una eficienca del 94,9%. El área bajo la curva ROC fue de 0,979. Conclusiones La validación interna de este modelo basado en signos y síntomas la faculta como herramienta muy útil para detectar precozmente IPA en otorrinolaringología y atención primaria (AU)

Background Peritonsillar infection (PTI) is a reason for urgent consultation due to intense throat discomfort. A delayed or inaccurate diagnosis can jeopardize the upper aerodigestive tract and be fatal in its evolution. Our objective was to develop a predictive model for the presence of IPA helping in its rapid detection. Patients and methods A 66-month retrospective observational study from 2017 was carried out in a county and tertiary referral hospitals, registering data from all patients diagnosed with PTI and a proportional volume of subjects with pharyngeal symptoms without PTI. Collection of clinical, exploratory and demographic data among participants. Their higher relative risk of PTI presence allowed them to be considered as variables to be tested. Development of a scoring scale for the probability of suffering from it and logistic regression analysis, obtaining the ROC curve with the best diagnostic correlation. Internal validation and estimation of the predictive values of the model. Results On 348 cases of PTI, the assessment scale scored the presence of six variables: trismus (3), unilateral dysphagia-odynophagia (2), velar bulging (2), reflex otalgia (1), pharyngolalia (1) and age between 16 and 46 years (1). With a range of 0-10, a cut-off ≥6 offered a sensitivity of 96.1%, a specificity of 93.9%, and an efficiency of 94.9%. The area under the ROC curve was 0.979. Conclusions The internal validation of this model based on signs and symptoms makes it a very useful tool for early detection of PTI in otorhinolaryngology and primary care (AU)

[Design of a predictive score table for peritonsillar infection based on signs and symptoms]. / Elaboración de una escala de puntuación predictiva de infección periamigdalina basada en signos y síntomas.

BACKGROUND: Peritonsillar infection (PTI) is a reason for urgent consultation due to intense throat discomfort. A delayed or inaccurate diagnosis can jeopardize the upper aerodigestive tract and be fatal in its evolution. Our objective was to develop a predictive model for the presence of IPA helping in its rapid detection. PATIENTS AND METHODS: A 66-month retrospective observational study from 2017 was carried out in a county and tertiary referral hospitals, registering data from all patients diagnosed with PTI and a proportional volume of subjects with pharyngeal symptoms without PTI. Collection of clinical, exploratory and demographic data among participants. Their higher relative risk of PTI presence allowed them to be considered as variables to be tested. Development of a scoring scale for the probability of suffering from it and logistic regression analysis, obtaining the ROC curve with the best diagnostic correlation. Internal validation and estimation of the predictive values of the model. RESULTS: On 348 cases of PTI, the assessment scale scored the presence of six variables: trismus (3), unilateral dysphagia-odynophagia (2), velar bulging (2), reflex otalgia (1), pharyngolalia (1) and age between 16 and 46 years (1). With a range of 0-10, a cut-off ≥6 offered a sensitivity of 96.1%, a specificity of 93.9%, and an efficiency of 94.9%. The area under the ROC curve was 0.979. CONCLUSIONS: The internal validation of this model based on signs and symptoms makes it a very useful tool for early detection of PTI in otorhinolaryngology and primary care.

Formas atípicas de presentación de enfermedad celíaca / Atypical forms of presentation of celiac disease

Introducción: La enfermedad celíaca es una enfermedad de base autoinmune, desencadenada por la ingesta de gluten en individuos con una predisposición genética. Presenta una amplia variabilidad clínica, siendo los síntomas más frecuentes la diarrea, la pérdida de peso y la distensión abdominal. Presentamos tres casos clínicos con diferentes formas de presentación. Casos clínicos. Caso 1 y 2: Dos lactantes de 11 meses, gemelos monocoriales biamnióticos, que acuden a Urgencias por clínica gastrointestinal de forma simultánea. Asocian diarrea con pérdida de peso importante e intolerancia oral completa. Precisan ingreso hospitalario para completar diagnóstico e intervención nutricional. Caso 3: Niño de 4 años que acude a Urgencias por dolor abdominal de inicio brusco con mal estado general, abdomen muy distendido con defensa generalizada. En prueba de imagen se detecta dilatación de asas de intestino delgado y colon. Se mantiene actitud expectante sin precisar intervención quirúrgica. Rehistoriando, refieren episodios de diarrea intermitente con dolor abdominal desde hace 5 meses, lo que permite completar estudio de enfermedad celíaca.(AU)

Introduction: Coeliac disease is an autoimmune-based disease, triggered by the ingestion of gluten in individuals with a genetic predisposition. It presents a wide clinical variability, the most frequent symptoms being diarrhoea, weight loss and abdominal distension. We present three clinical cases with different forms of presentation. Case reports. Case 1 and 2: Two 11-month-old infants, biamniotic monochorionic twins, presented to the Emergency department with simultaneous gastrointestinal symptoms. They had diarrhoea with significant weight loss and complete oral intolerance. They required hospital admission to complete diagnosis and nutritional intervention. Case 3: 4-year-old boy attended the Emergency department for abdominal pain with abrupt onset and poor general condition, very distended abdomen with generalised defence. Imaging tests showed dilated loops of the small intestine and colon. A wait-and-see attitude was maintained without requiring surgical intervention. On re-history, the patient reported episodes of intermittent diarrhoea with abdominal pain for the last 5 months, which led to the completion of the study of coeliac disease.(AU)

Cefalea atribuida a ictus isquémico. Actualización semiológica y diagnóstica / Headache attributed to ischaemic stroke. An update on its semiology and diagnosis

Introducción: La cefalea es un síntoma frecuente tras el ictus isquémico agudo. Su identificación y diagnóstico constituyen un reto por el perfil de paciente y los criterios diagnósticos actuales de esta entidad. Los objetivos del estudio fueron determinar la prevalencia de cefalea atribuida a ictus isquémico y su forma persistente, y analizar las variables clinicodemográficas y el grado de cumplimiento de los criterios de la Clasificación Internacional de Cefaleas (ICHD-III). Pacientes y métodos: Es un estudio observacional analítico de cohortes prospectivo de pacientes ingresados con ictus isquémico agudo en la unidad de ictus de un hospital de tercer nivel en un período de 12 meses. Resultados: Se incluyó a 244 pacientes con ictus isquémico agudo (el 59,8%, varones; edad media: 71 ± 12,8 años). El 23,2% presentó cefalea en el momento del ingreso o bien en las primeras 72 horas y el 12,5% de ellos presentó cefalea persistente atribuida a ictus isquémico. El 62,5% cumplió los criterios diagnósticos de acuerdo con la ICHD-III. Conclusión: La cefalea tras el ictus isquémico es un síntoma frecuente. Su aparición se asoció al sexo femenino, al ictus de territorio vertebrobasilar y a puntuaciones bajas en la National Institutes of Health Stroke Scale. Sería recomendable revisar los criterios diagnósticos actuales.(AU)

Introduction: Headache is a common symptom in acute ischemic stroke which is often overlooked and undertreated because of focus in neurologic function, communication difficulties in stroke patients and the current diagnostic criteria of this type of headache. The present study aimed to determine the prevalence of Acute and Persistent Headache Attributed to Ischemic Stroke and to analyze the fulfillment of the criteria of the International Classification of Headaches (ICHD-IID). Patients and methods: Prospective observational analytical cohort study. The study population consisted of patients with acute ischemic stroke admitted to the Stroke Unit of a tertiary care hospital over a period of 12 months. Results: Two hundred and forty-four patients with acute ischemic stroke (59.8% males, mean age 71+12.8 years) were included. Headache at onset or at the first 72 hours was present in 23.2% and 12.5% of them presented persistent headache attributed to ischemic stroke. Only 62.5% of the headaches at stroke onset fulfilled the diagnostic criteria of ICHD-III. Conclusion: Headache after ischemic stroke is a common symptom. It was associated with female sex, posterior circulation stroke and low scores on the National Institutes of Health Stroke Scale (NIHSS). The current diagnostic criteria should be reviewed.

Cronología del diagnóstico de la neurofibromatosis tipo 1 en la infancia / Neurofibromatosis Type 1: Diagnostic Timelines in Children

Antecedentes y objetivos El diagnóstico de la neurofibromatosis 1 (NF1) plantea dificultades en niños sin antecedentes familiares durante la primera infancia. En este estudio pretendemos estimar la demora diagnóstica de los pacientes sin antecedentes familiares de NF1 y definir la repercusión de considerar las manchas café con leche y las efélides como un único criterio diagnóstico. Pacientes y métodos Estudio observacional descriptivo retrospectivo en el que se revisaron los hitos diagnósticos de la NF1 en las historias clínicas de los pacientes menores de 18 años atendidos en nuestro centro. Distribuimos a los pacientes en dos grupos en función de la existencia de antecedentes de NF1 entre sus progenitores, considerando las manchas café con leche y las efélides como un único criterio y aceptando el estudio genético como criterio de confirmación en casos de elevada sospecha. Resultados Se incluyeron en el estudio 108 menores con diagnóstico de NF1. La edad media de diagnóstico en nuestra serie fue de 3,94 años (desviación estándar:±3,8 años). En el grupo 1, sin antecedentes, la edad media de diagnóstico fue de 4 años y 8 meses, mientras que en el grupo 2, con antecedentes, fue de 12 meses, siendo la demora en el diagnóstico de 3 años y 8 meses entre ambos grupos. Conclusión Las lesiones cutáneas representan, en la mayoría de los casos, las primeras manifestaciones clínicas de la enfermedad. Consideramos necesaria la actualización de los criterios diagnósticos del NIH con el fin de facilitar el diagnóstico en los primeros años de vida (AU)

background and objectives The neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of using café au lait macules and skin fold freckling as a single diagnostic criterion. Patients and methods Retrospective, descriptive, observational study of all patients diagnosed with NF1 before the age of 18 years who were seen at our hospital. The medical records of those included were reviewed to identify the date on which the diagnostic criteria of NF1 were objectified. The patients were categorized into 2 groups: those with a known parental history of NF1 and those without. Café au lait macules and skin fold freckling were assessed as a single diagnostic criterion, and genetic evidence was considered to confirm highly suspicious cases. Results We studied 108 patients younger than the age of 18 years with a diagnosis of NF1. Mean (SD) age at diagnosis was 3.94 (±3.8) years for the overall group, 1 year for patients with a parental history of NF1, and 4 years and 8 months for those without. Diagnosis was therefore delayed by 3 years and 8 months in patients without a family history. Conclusion Skin lesions were the first clinical manifestation of NF1 in most patients. We believe that the National Institutes of Health's diagnostic criteria for NF1 should be updated to aid diagnosis in young children (AU)

[Translated article] Neurofibromatosis Type 1: Diagnostic Timelines in Children / Cronología del diagnóstico de la neurofibromatosis tipo 1 en la infancia

background and objectives The neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of using café au lait macules and skin fold freckling as a single diagnostic criterion. Patients and methods Retrospective, descriptive, observational study of all patients diagnosed with NF1 before the age of 18 years who were seen at our hospital. The medical records of those included were reviewed to identify the date on which the diagnostic criteria of NF1 were objectified. The patients were categorized into 2 groups: those with a known parental history of NF1 and those without. Café au lait macules and skin fold freckling were assessed as a single diagnostic criterion, and genetic evidence was considered to confirm highly suspicious cases. Results We studied 108 patients younger than the age of 18 years with a diagnosis of NF1. Mean (SD) age at diagnosis was 3.94 (±3.8) years for the overall group, 1 year for patients with a parental history of NF1, and 4 years and 8 months for those without. Diagnosis was therefore delayed by 3 years and 8 months in patients without a family history. Conclusion Skin lesions were the first clinical manifestation of NF1 in most patients. We believe that the National Institutes of Health's diagnostic criteria for NF1 should be updated to aid diagnosis in young children (AU)

Antecedentes y objetivos El diagnóstico de la neurofibromatosis 1 (NF1) plantea dificultades en niños sin antecedentes familiares durante la primera infancia. En este estudio pretendemos estimar la demora diagnóstica de los pacientes sin antecedentes familiares de NF1 y definir la repercusión de considerar las manchas café con leche y las efélides como un único criterio diagnóstico. Pacientes y métodos Estudio observacional descriptivo retrospectivo en el que se revisaron los hitos diagnósticos de la NF1 en las historias clínicas de los pacientes menores de 18 años atendidos en nuestro centro. Distribuimos a los pacientes en dos grupos en función de la existencia de antecedentes de NF1 entre sus progenitores, considerando las manchas café con leche y las efélides como un único criterio y aceptando el estudio genético como criterio de confirmación en casos de elevada sospecha. Resultados Se incluyeron en el estudio 108 menores con diagnóstico de NF1. La edad media de diagnóstico en nuestra serie fue de 3,94 años (desviación estándar:±3,8 años). En el grupo 1, sin antecedentes, la edad media de diagnóstico fue de 4 años y 8 meses, mientras que en el grupo 2, con antecedentes, fue de 12 meses, siendo la demora en el diagnóstico de 3 años y 8 meses entre ambos grupos. Conclusión Las lesiones cutáneas representan, en la mayoría de los casos, las primeras manifestaciones clínicas de la enfermedad. Consideramos necesaria la actualización de los criterios diagnósticos del NIH con el fin de facilitar el diagnóstico en los primeros años de vida (AU)

Neurofibromatosis Type 1: Diagnostic Timelines in Children. / Cronología del diagnóstico de la neurofibromatosis tipo 1 en la infancia.

BACKGROUND AND OBJECTIVES: The neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of using café au lait macules and skin fold freckling as a single diagnostic criterion. PATIENTS AND METHODS: Retrospective, descriptive, observational study of all patients diagnosed with NF1 before the age of 18 years who were seen at our hospital. The medical records of those included were reviewed to identify the date on which the diagnostic criteria of NF1 were objectified. The patients were categorized into 2 groups: those with a known parental history of NF1 and those without. Café au lait macules and skin fold freckling were assessed as a single diagnostic criterion, and genetic evidence was considered to confirm highly suspicious cases. RESULTS: We studied 108 patients younger than the age of 18 years with a diagnosis of NF1. Mean (SD) age at diagnosis was 3.94 (±3.8) years for the overall group, 1 year for patients with a parental history of NF1, and 4 years and 8 months for those without. Diagnosis was therefore delayed by 3 years and 8 months in patients without a family history. CONCLUSION: Skin lesions were the first clinical manifestation of NF1 in most patients. We believe that the National Institutes of Health's diagnostic criteria for NF1 should be updated to aid diagnosis in young children.

Comportamiento de la enfermedad inflamatoria pélvica aguda en la atención primaria de salud. Matanzas, 2017-2018

RESUMEN Introducción: la enfermedad inflamatoria pélvica aguda es una entidad frecuente en mujeres jóvenes en edad reproductiva, y constituye causa de infertilidad y otras complicaciones. Objetivo: caracterizar el comportamiento de la enfermedad inflamatoria pélvica aguda en pacientes atendidas en el Policlínico Docente Samuel Fernández, del municipio Matanzas, en el período de enero de 2017 a enero de 2018. Materiales y métodos: se realizó un estudio descriptivo, longitudinal y prospectivo a 76 mujeres, a las que se les hizo caracterización sociodemográfica y clínico-ecográfica, que permitió su clasificación como pacientes con enfermedad inflamatoria pélvica aguda leve-moderada, requerida de tratamiento y seguimiento en atención primaria. Se evaluó la respuesta clínico-ecográfica al tratamiento médico indicado, a partir de la disminución de la intensidad del dolor pélvico y de las modificaciones de los hallazgos ecográficos iniciales. Resultados: la enfermedad inflamatoria pélvica aguda leve-moderada representó el 87,4 % de los casos evaluados en Consulta Ginecológica de la atención primaria de salud, en el período estudiado. La media de edad fue de 31,2 años. Clínicamente predominaron los casos con dolor severo. El hallazgo ecográfico inicial más frecuente fue el de anejos engrosados. La antibioticoterapia oral combinada y el uso de antiinflamatorios fue la terapia médica empleada, con resultados clínico-ecográficos favorables en el 98,4 y el 92,2 % de los casos, respectivamente. Conclusiones: la enfermedad inflamatoria pélvica leve-moderada resultó una entidad frecuente en el Servicio de Ginecología de la atención primaria de salud en el período estudiado, con evolución satisfactoria al tratamiento médico.

ABSTRACT Introduction: acute inflammatory pelvic disease is a frequent entity in young women in reproductive age, and is cause of infertility and other complications. Objective: to characterize the behavior of the acute inflammatory pelvic disease in patients attended at the TeachingPoliclinic Samuel Fernandez, of the municipality of Matanzas, in the period from January 2017 to January 2018. Materials and methods: a descriptive, longitudinal and prospective study was carried out in 76 women, who were object of socio-demographic and clinic-echographyc characterization that allowed their classification as patients with mild-moderated acute inflammatory pelvic disease requiring treatment and follow up in primary care services. The clinic-echographyc answer to medical treatment was evaluated from the decrease of the intensity of the pelvic pain and the modification of the baseline echographyc findings. Results: mild-moderated acute inflammatory pelvic disease represented 87.4 % of the cases evaluated in the primary care Gynecological consultation in the studied period. The average age was 31.2 years. The cases with severe pain predominated clinically. The most frequent baseline echographyc finding was increased annexes. Oral combined antibiotic therapy and the use of anti-inflammatory drugs was the used medical therapy, with favorable clinic-echographyc results in 98.4 % and 92.2 % of cases respectively. Conclusions: mild-moderated inflammatory pelvic disease was a frequent entity in the Gynecology service of the primary health care in the studied period, with satisfactory evolution to medical treatment.

Historia metabólica de pacientes con antecedentes de diabetes gestacional. Seguimiento durante seis años (2013-2019) / Metabolic record of patients with history of gestational diabetes. Follow-up of patients for six years (2013-2019)

Introducción: en la provincia de La Pampa no hay registro del número de pacientes con diabetes gestacional (DG) que vuelve a control metabólico posparto, cuando se conoce el riesgo que evolucione a diabetes mellitus tipo 2 (DM2). Objetivos: analizar en el Hospital Público Interzonal (Dr. Lucio Molas) el porcentaje de mujeres con DG que volvió a control metabólico posparto y desarrolló DM2 durante seis años de seguimiento. Materiales y métodos: estudio descriptivo ambispectivo en 44 pacientes con DG diagnosticada en 2013 con seguimiento hasta el 31/12/2019. Se analizaron antecedentes previos de DG y familiares de diabetes (AFD), edad, semana de gestación del diagnóstico con glucemia/prueba de tolerancia oral a la glucosa (PTOG), índice de masa corporal (IMC), presión arterial, vía del parto, peso del recién nacido, HbA1c. Resultados: en 2013 se efectuaron 1.238 partos, 44 pacientes (3,7%) tenían DG diagnosticada, 68% mediante PTOG. Presentaban 43% AFD, 38,6% sobrepeso, 20,45% obesidad, 68,2% cesáreas y 11,4% recién nacidos con alto peso. En seis años de seguimiento, 54,5% de estas pacientes realizó control metabólico; este grupo, a diferencia del grupo sin control, presentó mayor IMC al inicio del embarazo (t:2,103; p<0,02), glucemia basal (t:10,59; p<0,001), presión arterial sistólica (t:2,629; p<0,01), diastólica (t:1,965; p<0,05) y macrosomía fetal (4 vs 1). El 33,3 % manifestó DM2 predominantemente a partir de tres años del posparto. Conclusiones: el 54,5% de las pacientes con DG concurrió a control metabólico posparto tardíamente, y el 33,3% evolucionó a DM2; incluso estas pacientes presentaron mayor número de factores de riesgo obstétricos y cardiometabólicos que el grupo sin control al inicio del embarazo.

Introduction: there is no register of the number of women with gestational diabetes (GD) that have undergone metabolic post-partum control in the province of La Pampa, even though it is well-known the increased associated risk of becoming a diabetes type 2 patient (T2DM). Objectives: to analyze at the Interzonal Public Hospital (Dr. Lucio Molas) the percentage of women with GD who returned to postpartum metabolic control and developed T2DM during six years of follow-up. Materials and methods: descriptive ambispective study in 44 patients with GD diagnosed in 2013 with follow-up until 31 December 2019. Different characteristics were analyzed in all participants: previous history of GD and family members of diabetes (FHD), age, gestational week of the diagnosis with fasting glucose or oral glucose tolerance test (OGTT), body mass index (BMI), blood pressure, delivery route, newborn weight, glycated hemoglobin (HbA1C). Results: a number of 1,238 of deliveries were performed in 2013, 44 women (3.7%) developed GD diagnosed by OGTT (68%), 43% presented FHD, 38.6% overweight, 20.45% obesity. Among the totality of deliveries 68.2% were by caesarea and 11.4% high birth weight newborns. In six years of follow-up, 54.5% of these patients underwent metabolic control, presenting this group, unlike the group without control, higher BMI at the beginning of pregnancy (t:2.103; p<0.02), fasting blood glucose (t:10 .59; p<0.001), systolic blood pressure (t:2.629; p<0.01), diastolic blood pressure (t; 1.965; p<0.05) and fetal macrosomia (4 vs 1). 33.3% developed T2DM predominantly from at three years postpartum. Conclusions: the present study reported that 54.5% of women with GD performed a late metabolic postpartum control evolving 33.3% developed T2DM presenting higher obstetric and cardiometabolic risk factors than the group without control at the beginning of pregnancy.

[Diagnosis of celiac disease in clinical practice: present and future]. / Diagnóstico de enfermedad celiaca en la práctica clínica: presente y futuro.

INTRODUCTION: European guidelines for the diagnosis of celiac disease (CD) have been updated in 2020. The primary objective was to review the compliance with the diagnostic criteria for CD, according to ESPGHAN 2012. Secondarily, to describe the clinical characteristics of the patients and to assess the changes that would be implied by the application of the new 2020 criteria. PATIENTS AND METHODS: Retrospective multicenter study in which 10 centers participated. Patients from 0 to 16 years old with a new diagnosis of CD in 2018-2019 were included. Clinical, serological variables and the performance of intestinal biopsy (IB) were collected. RESULTS: 163 patients were included (57% female) with a median age of 7.6 years (SD 4.4). The form of presentation was: 47.8% classical, 30.7% no classical and 21.5% asymptomatic, with differences depending on age. Total IgA and anti-transglutaminase IgA antibodies were performed in all centers as the first diagnostic step. IgA anti-endomysial antibodies (EMA) were performed in 80%, and HLA haplotype in 95%. Of the total, 78 cases (47.9%) met criteria for not performing intestinal biopsy (IB). IB was indicated in the remaining 85 patients, but was not performed in 29 cases (17.8%). The performance of IB was lower in the secondary hospitals than in the tertiary ones (p < 0.05). If we applied the ESPGHAN 2020 criteria, we would disregard the HLA study, and 21 more patients would not have required IB (going from 47.9% to 60.7% of the total). CONCLUSIONS: Discrepancies are observed in the application of the ESPGHAN 2012 diagnostic criteria due to the different accessibility to EMA and endoscopic IB in secondary centers. With the ESPGHAN-2020 criteria, around 60% of patients will be able to be diagnosed without IB, provided that the determination of EMA is ensured.

Avaliação da qualidade de vida e prevalência dos critérios diagnósticos de dermatite atópica em pacientes atendidos em um hospital terciário do Sul do Brasil / Evaluation of the quality of life and prevalence of diagnostic criteria for atopic dermatitis in patients attended in a tertiary hospital in southern Brazil

Caracterizada por pele seca, pruriginosa, placas e pápulas eritematosas e liquenificação, a dermatite atópica (DA) ocasiona dor e gera grande impacto na qualidade de vida (QdV) dos pacientes. De importante prevalência mundial, manifesta-se diferentemente em distintos grupos e pesquisas locais são necessárias para avaliar o padrão de acometimento regional. Os objetivos deste estudo são traçar o perfil fenotípico e avaliar os impactos da DA na QdV em pacientes em hospital terciário, referência no Paraná. De 28 participantes convidados, 20 foram submetidos a avaliação clínica somada a aplicação do Dermatology Life Quality Index. A análise descritiva mostrou a sintomatologia, constrangimento e uso de roupas como mais impactantes na QdV. Consistiam em adultos jovens, com sintomas de início na infância e adolescência e história familiar e pessoal de doenças atópicas. As lesões eram típicas, pruriginosas e recidivantes, e outros achados cutâneos e não cutâneos, como influência dos fatores emocionais e intolerância à lã

Characterized by dry, itchy skin, erythematous plaques and papules and lichenification, atopic dermatitis (AD) causes pain and has a great impact on patients' quality of life (QoL). Importantly prevalent worldwide, it manifests itself differently in different groups and local research is needed to assess the pattern of regional involvement. The objectives of this study are to trace the phenotypic profile and evaluate the impacts of AD on QoL in patients at a Tertiary Hospital, a reference in Paraná. Of 28 invited participants, 20 underwent clinical evaluation plus the application of the Dermatology Life Quality Index. The descriptive analysis showed the symptoms, embarrassment and use of clothes as the most impactful in QoL. They consisted of young adults, with symptoms beginning in childhood and adolescence and a family and personal history of atopic diseases. The lesions were typical, itchy and recurrent, and other skin and non-skin findings, such as the influence of emotional factors and intolerance to wool

Impact of the new criteria of the ACC/AHA on the diagnostic prevalence of hypertension. / Impacto de los nuevos criterios de la ACC/AHA sobre la prevalencia diagnóstica de hipertensión arterial.

OBJECTIVE: To study the impact on the prevalence of hypertension with the criteria (2017) of the American College of Cardiology/American Heart Association (ACC/AHA). PATIENTS AND METHODS: Cross-sectional study, including 370 patients ≥18 years, randomly selected in a Health Centre, with at least one visit and a measurement of systolic (SBP) and diastolic blood pressure (DBP) recorded the last 2 years. Previous hypertension was considered if the diagnosis was confirmed or they had an SBP ≥140 or DBP ≥90mmHg and as ACC/AHA AHT criteria in any of these cases or an SBP between 130-139mmHg or DBP between 80-89mmHg. RESULTS: The average age was 52.3 years (58.6% women). Forty-one point nine percent had previous hypertension, increasing to 67.8% with the ACC/AHA criteria (p <.05). Pharmacological treatment was received by 32.2% of the population, increasing to 38.4% with the ACC/AHA criteria (p>.05). The newly diagnosed patients (p <.05) were younger (mean difference 19.6 years) and less obese (23% vs. 41.4%). CONCLUSIONS: The ACC/AHA criteria would represent an increase of 25.9% in the prevalence of hypertension, considering 2 out of 3 adults hypertensive.

Doença de Behçet em adolescente: relato de caso / Behçet's disease in a adolescent: case report

OBJETIVO: Relatar o caso de uma paciente adolescente com diagnóstico de Doença de Behçet e correspondente revisão da literatura. DESCRIÇÃO DO CASO: Paciente de 17 anos apresentando severa mialgia generalizada e com queixa de febre intermitente há 10 dias, com edema de lábios, úlceras e aftas orais. Perda de peso por dificuldade de deglutição pelas dores das lesões orais, incapacidade de deambulação por piora progressiva da mialgia e dores articulares e febre elevada contínua. Apresentou melhora com corticoterapia e recebeu alta com prednisona oral, hidroxicloroquina, cálcio e vitamina D. COMENTÁRIOS: É importante direcionar o tratamento em tempo que evite um desfecho desfavorável por conta de complicações e manifestações mais graves da doença, por meio do diagnóstico precoce associado ao tratamento efetivo e individualizado.

OBJECTIVE: To report the case of an adolescent patient diagnosed with Behçet's Disease and a corresponding literature review. CASE DESCRIPTION: A 17-year-old patient with severe generalized myalgia and complaining of intermittent fever for 10 days, with edema of the lips, ulcers and oral thrush. Weight loss due to difficulty in swallowing due to pain from oral lesions, inability to walk due to progressive worsening of myalgia and joint pain and continuous high fever. She improved with corticosteroid therapy and was discharged with oral prednisone, hydroxychloroquine, calcium and vitamin D. COMMENTS: It is important to direct treatment in time to avoid an unfavorable outcome due to complications and more serious manifestations of the disease, through early diagnosis associated with effective and individualized treatment

Heart failure with preserved ejection fraction: the dark side of an old disease.

Heart failure is a global public health problem, with more than 37 million patients living with heart failure around the world. Heart failure with preserved ejection fraction is an increasingly common category (approximately 60% of the cases) and shows remarkable differences in diagnosis and treatment when compared with heart failure with reduced ejection fraction. The current review covers epidemiology, risk factors, pathophysiologic mechanisms, clinical and paraclinical characteristics and diagnostic criteria of heart failure with preserved ejection fraction and concludes with a plea for original research in our country.

La insuficiencia cardíaca (IC) es un problema de salud pública global con más de 37 millones de individuos afectados en el mundo. La insuficiencia cardíaca con fracción de expulsión preservada (ICFEp) representa una categoría cada vez más frecuente en la práctica clínica, constituye hasta el 60% de los casos y presenta diferencias importantes en el diagnóstico y tratamiento en comparación con la insuficiencia cardíaca y la fracción de expulsión reducida. Esta revisión de ICFEp expone la epidemiología, delimita los principales factores de riesgo y mecanismos fisiopatológicos, identifica las características clínicas/paraclínicas y los criterios diagnósticos, y finaliza con un llamado para realizar investigación en este país.

Insuficiencia cardíaca con fracción de expulsión preservada: el lado oscuro de una vieja enfermedad / Heart failure with preserved ejection fraction: the dark side of an old disease

Resumen La insuficiencia cardíaca (IC) es un problema de salud pública global con más de 37 millones de individuos afectados en el mundo. La insuficiencia cardíaca con fracción de expulsión preservada (ICFEp) representa una categoría cada vez más frecuente en la práctica clínica, constituye hasta el 60% de los casos y presenta diferencias importantes en el diagnóstico y tratamiento en comparación con la insuficiencia cardíaca y la fracción de expulsión reducida. Esta revisión de ICFEp expone la epidemiología, delimita los principales factores de riesgo y mecanismos fisiopatológicos, identifica las características clínicas/paraclínicas y los criterios diagnósticos, y finaliza con un llamado para realizar investigación en este país.

Abstract Heart failure is a global public health problem, with more than 37 million patients living with heart failure around the world. Heart failure with preserved ejection fraction is an increasingly common category (approximately 60% of the cases) and shows remarkable differences in diagnosis and treatment when compared with heart failure with reduced ejection fraction. The current review covers epidemiology, risk factors, pathophysiologic mechanisms, clinical and paraclinical characteristics and diagnostic criteria of heart failure with preserved ejection fraction and concludes with a plea for original research in our country.

Artritis reumatoide, diagnóstico, evolución y tratamiento / Rheumatoid arthritis, diagnosis, evolution and treatment

La artritis reumatoide es la enfermedad inflamatoria más común en adultos con una alta prevalencia en la población general, invocando para su diagnóstico la presencia de al menos cuatro criterios de los orientados por el Colegio Americano de Reumatología, teniendo un papel protagónico en los últimos años la presencia de anticuerpos anti proteína citrulinada, así como los estudios de imágenes, que ayudan al diagnóstico de la artritis reumatoide temprana en el curso de los dos primeros años de evolución y sus orientaciones terapéuticas adecuadas, aspecto fundamental en la actualidad para evitar las lesiones erosivas irreversibles, que resultan en un marcado compromiso de la calidad de vida de los pacientes que la sufren, elementos que revisamos en este artículo de opinión(AU)

Rheumatoid arthritis is the most common inflammatory disease in adults with a high prevalence in the general population, invoking for its diagnosis the presence of at least four criteria of those guided by the American College of Rheumatology, having a leading role in recent years the presence of anti-citrullinated protein antibodies, as well as imaging studies, which help the diagnosis of early rheumatoid arthritis in the course of the first two years of evolution and its appropriate therapeutic orientations, a fundamental aspect nowadays to avoid irreversible erosive lesions , which result in a marked commitment to the quality of life of patients who suffer from it, elements that we review in this opinion article(AU)

El paciente hemofílico: consideraciones clínicas y moleculares de importancia para el odontólogo / Hemophilic patients: clinical and molecular considerations of interest to dentists

RESUMEN Introducción: La hemofilia es una enfermedad genética poco frecuente en la consulta odontológica. En algunas situaciones se presenta como una urgencia odonto-estomatológica, en la que el profesional debe relacionar las manifestaciones clínicas generales de la enfermedad, con una correcta semiología, paraclínicos y análisis genético-molecular, para diagnosticar y aplicar pertinentes terapéuticas dirigidas a resolver el motivo de consulta del paciente así como el manejo y control de sus complicaciones. Objetivo: Describir los principales aspectos fisiopatológicos generales y de importancia odontológica de la hemofilia, así como las herramientas diagnósticas desde el punto de vista clínico, paraclínico y genético-molecular. Métodos: Búsqueda bibliográfica en las bases de datos Pubmed, Proquest, Scielo y Elsevier, en idioma inglés y español, en las que se seleccionaron artículos publicados en un periodo de 13 años para un total de 50 (2005-2018), empleando los descriptores "hemophilia A, hemophilia B, diagnostic criteria, genetic, molecular, oral health, clinical diagnosis". Análisis e integración de la información: Los estudios han demostrado que la hemofilia, una condición genética y sistémica, tiene repercusiones bucales en el contexto de sus manifestaciones y complicaciones, lo que la hace importante para el odontólogo, debido a que debe ser diagnosticada desde el punto de vista genético-molecular y manejada interdisciplinariamente. Conclusiones: La implicación del diagnóstico genético-molecular por parte del genetista soporta la integración del hematólogo y el odontólogo para el manejo y control de la interconsulta cuando se trata de pautar procedimientos en pacientes con hemofilia(AU)

ABSTRACT Introduction: Hemophilia is a genetic disease scarcely found in dental practice. On occasion it presents as a dental emergency in face of which the professional should relate the general clinical manifestations of the disease to an appropriate semiological, paraclinical and genetic-molecular analysis to diagnose the condition and apply relevant therapies aimed at solving the patient's main concern as well as managing and controlling its complications. Objective: Describe the main general pathophysiological features and aspects of dental interest of hemophilia, as well as the diagnostic tools related to the condition from a clinical, paraclinical and genetic-molecular perspective. Methods: A bibliographic search was conducted in the databases Pubmed, Proquest, Scielo and Elsevier of papers published in English and Spanish in a period of 13 years (2005-2018), using the search terms "hemophilia A", "hemophilia B", "diagnostic criteria", "genetic", "molecular", "oral health", "clinical diagnosis". A total 50 papers were selected. Data analysis and integration: Studies have shown that hemophilia, a genetic systemic condition, may have oral manifestations and complications. This makes it important to dentists, since the disease should be diagnosed from a genetic-molecular point of view and managed in an interdisciplinary manner. Conclusions: Genetic-molecular diagnosis by geneticists implies involvement of hematologists and dentists in the management and control of the condition via interconsultation, when it comes to deciding on procedures for hemophilic patients(AU)

Miocardiopatía no compactada / Non-compacted cardiomyopathy / Cardiomiopatia não compactada

Resumen: La miocardiopatía no compactada es un trastorno caracterizado por una morfología anómala del miocardio, con una organización en dos capas diferenciadas: una capa fina epicárdica compactada y bien desarrollada, y otra capa endocárdica gruesa de aspecto esponjoso, con trabéculas y recesos intertrabeculares prominentes. En algunos casos se asocia a dilatación ventricular y disfunción sistólica, lo que conduce a insuficiencia cardíaca, arritmias cardíacas y complicaciones tromboembólicas. No está totalmente claro si se trata de una miocardiopatía definida como tal o si es un rasgo fenotípico compartido por muchas otras patologías subyacentes. Para su diagnóstico, la ecocardiografía representa la primera herramienta a emplear, utilizando varios criterios definidos hasta la fecha, aunque con escasa correlación entre ellos. La cardio-resonancia magnética (Cardio-RM), con criterios diagnósticos bien establecidos, trata de superar las limitaciones de la ecocardiografía. El tratamiento se basa en el manejo de las complicaciones según las guías de práctica general. Se han definido recomendaciones en cuanto al despistaje de la misma y el pronóstico es muy variable, si bien el conocimiento que tenemos de la patología hasta la fecha es aún muy limitado.

Summary: Non-compaction cardiomyopathy is a disorder characterized by an anomalous morphology of the myocardium, with an organization in two differentiated layers: a thin and well developed epicardial layer, and another thick endocardial layer of spongy appearance, with prominent trabeculae and intertrabecular recesses. In some cases, it is associated with ventricular dilatation and systolic dysfunction, which leads to heart failure, cardiac arrhythmias and thromboembolic complications. It is not entirely clear whether it is a cardiomyopathy per se or it is really a phenotypic trait shared by many other underlying pathologies. For its diagnosis, echocardiography represents the first tool to be used, with several diagnostic criteria defined to date, although they present little correlation. To help these limitations, cardiac magnetic resonance is also used, which has established criteria too. The treatment is based on the management of complications according to general practice guidelines. Recommendations have been defined regarding the screening of the pathology and the prognosis is very variable, even though the knowledge we have of the pathology to date is still very limited.

Resumo: A cardiomiopatia não compactada é um distúrbio caracterizado por morfologia anômala do miocárdio, com organização em duas camadas diferenciadas: camada fina epicárdica bem desenvolvida e compacta, e outra camada endocárdica espessa de aspecto esponjoso, com trabéculas e recessos intertrabeculares proeminentes. Em alguns casos está associada à dilatação ventricular e disfunção sistólica, o que leva à insuficiência cardíaca, arritmias cardíacas e complicações tromboembólicas. Não está completamente claro se é uma cardiomiopatia definida como tal ou se é um traço fenotípico compartilhado por muitas outras patologias subjacentes. Para o seu diagnóstico, a ecocardiografia representa a primeira ferramenta a ser utilizada, com vários critérios diagnósticos definidos até o momento, embora com pouca correlação entre eles. Ressonância Cardio-Magnética, com critérios diagnósticos bem estabelecidos, tenta superar as limitações da ecocardiografia. O tratamento baseia-se no manejo das complicações de acordo com as diretrizes da prática geral. Definimos recomendações quanto à triagem das mesmas e o prognóstico é muito variável, embora o conhecimento que temos da patologia até o momento ainda seja muito limitado.

Eritroleucemias: Recategorización según criterios de la organización mundial de la salud / Erythroleukemias. Recategorization according to the World Health Organization's criteria

La leucemia aguda es la enfermedad oncológica más frecuente en la infancia. La leucemia linfoblástica aguda representa el 75% y la mieloblástica aguda el 25% de ellas. La eritroleucemia es una entidad infrecuente, representando menos del 5% de las leucemias mieloblásticas agudas. Su definición ha variado a lo largo del tiempo. La OMS en 2017 define el subtipo de eritroleucemia cuando el porcentaje de eritroblastos representa el 80% de la celularidad total de la médula ósea. El presente trabajo, de tipo analítico, retrospectivo, tuvo como finalidad revisar los hallazgos de morfología, citometría de flujo, citogenética, respuesta al tratamiento y evolución de los casos previamente definidos como eritroleucemia, en nuestro centro, en los últimos 25 años y reclasificar aquellos que no cumplían con los nuevos criterios de la OMS 2017. Entre enero de 1990 y diciembre de 2015, se diagnosticaron 576 casos de leucemia mieloblástica aguda siendo 11 (1.9%) de ellos clasificados como eritroleucemia. Resultaron evaluables 10 casos. La distribución por sexo fue 1:1 y la edad mediana fue 5 (rango: 0.9-14) años. Seis pacientes presentaban antecedentes de síndrome mielodisplásico. Según los nuevos criterios, ninguno de los casos analizados puede ser actualmente definido como eritroleucemia. De acuerdo a la recategorización, fueron definidos como leucemias de subtipos de mal pronóstico, como leucemia aguda indiferenciada, sin diferenciación y megacarioblástica. Solo dos pacientes se encuentran libres de enfermedad, probablemente debido a estos subtipos desfavorables, sumado al antecedente frecuente de mielodisplasia.

Acute leukemia is the most frequent malignant disease in childhood. Acute lymphoblastic leukemia represents 75% and acute myeloblastic leukemia 25% of them. Erythroleukemia is a rare entity, corresponding to less than 5% of acute myeloblastic leukemia. Its definition has changed over the time. WHO in 2017 defines erythroleukemia when the percentage of erythroblasts represent 80% of the total cellularity of the bone marrow aspirate. This analytical and retrospective study was performed with the aim of reviewing morphology, flow cytometry and cytogenetic features, response to treatment and outcome of cases previously defined as erythroleukemia in our center during the last 25 years and, in addition to reclassify those cases which do not meet the new WHO 2017 criteria. From January 1990 to December 2015, 576 patients were diagnosed as acute myeloblastic leukemia and 11 (1.9%) of them were classified as erythroleukemia. Ten cases were evaluable. Sex distribution was 1:1 and the median age at diagnosis was 5 (range: 0.9-14) years. Six of them had presented with previous myelodysplastic syndrome. None of the analyzed cases can be currently defined as erythroleukemia, according to the new criteria. When reclassified, the cases were defined as leukemias of subsets with poor prognosis such as acute undifferentiated leukemia, without differentiation and megakaryoblastic leukemia. Only 2 patients remain leukemia-free and this could be explained both by the unfavorable prognosis of these leukemia subtypes, and the antecedent of myelodysplastic syndrome in most of the cases.

Utilidad del método clínico en el diagnóstico de algunos síndromes genéticos / Use fulness of the clinical method for diagnosing a group of clinical syndromes

Introducción: El método científico es un método general, constituido por varias etapas necesarias en el desarrollo de toda investigación científica. Es la forma de abordar la realidad y estudiar los fenómenos de la naturaleza, para descubrir su esencia y sus interrelaciones. El método clínico es la aplicación particular del método científico en el ejercicio de la práctica médica, y en las condiciones económicas actuales prevalecientes a nivel mundial resulta de inestimable valor su aplicación por las ventajas que reporta desde ese punto de vista, así como también por el bienestar del paciente que no es sometido a innecesarios y costosos procedimientos diagnósticos. Objetivo: Proporcionar al personal médico los criterios clínicos para lograr, mediante el uso del método clínico, el diagnóstico de algunos síndromes genéticos; los que han sido elaborados luego de una exhaustiva delineación clínica de estos. Métodos: Se realizó una revisión de los textos básicos de genética clínica y sindromología con independencia del año de su publicación y se realizó una búsqueda en las bases de datos Medline, Lilacs y Cochrane en el periodo comprendido entre 2012 y 2016. Conclusiones: Fueron reflejados los criterios establecidos para el diagnóstico clínico de catorce síndromes genéticos(AU)

Introduction: The scientific method is a general method which consists of several stages necessary for the development of all scientific research. It is the way to approach reality and to study the phenomena of nature, to discover their essence and interrelations. The clinical method is the particular application of the scientific method in the medical practice, and in the current economic conditions prevailing worldwide, its application is of inestimable value because of the advantages it brings from that point of view, as well as for the well-being of the patient, who would not be subjected to unnecessary and expensive diagnostic procedures. Objective: To provide the medical personnel with the clinical criteria to achieve, through the use of the clinical method, the diagnosis of some genetic syndromes. Such criteria have been elaborated after an exhaustive clinical description of those conditions. Methods: A review of basic texts of clinical genetics and syndromology was carried out regardless the year of publication. A search was carried out in the databases Medline, Lilacs and Cochrane, in the period between 2012 and 2016. Conclusions: The criteria established for the clinical diagnosis of fourteen genetic syndromes have been presented(AU)