Resumo Introdução: A galactorreia é um sintoma raro na infância. O diagnóstico diferencial é vasto e é necessária uma investigação cuidada, através de uma história clínica detalhada e um exame objetivo adequado. Descrição do caso: Criança de quatro anos do sexo masculino, com antecedentes de perturbação do comportamento e impulsividade (PCI), medicado com risperidona 0,20 mg/dia há quatro meses. Foi observado em consulta de doença aguda na sua Unidade de Saúde Familiar (USF) por apresentar corrimento mamilar bilateral esbranquiçado com cerca de uma semana de evolução, sem outra sintomatologia associada. Ao exame objetivo observou-se galactorreia bilateral, sem outras alterações. Solicitou-se estudo analítico (EA) que revelou aumento da prolactina e função tiroideia normal. Optou-se pela suspensão da terapêutica, repetição posterior do EA e referenciação para consulta de endocrinologia pediátrica (EP). Após duas semanas da suspensão do fármaco ficou assintomático e manteve-se em vigilância na USF. Em consulta de EP repetiu estudo analítico, que evidenciou valores normais de prolactina. Por manutenção da PCI iniciou paliperidona 3 mg/dia, mas quatro meses depois apresentou novamente galactorreia bilateral. Optou-se pelo incentivo à psicoeducação e suspensão da paliperidona. Comentário: Os autores pretendem alertar que os fármacos antipsicóticos são uma das principais causas de galactorreia, incluindo em idade pediátrica. Apesar da existência de outros diagnósticos diferenciais com maior gravidade, a suspensão de fármacos predisponentes a alterações hormonais pode ser uma prova terapêutica válida, evitando numa primeira fase exames de imagem desnecessários.

Abstract Introduction: Galactorrhea is a rare symptom in childhood. The differential diagnosis is extensive, and further investigation is necessary, aided by a detailed anamnesis and physical examination. Case description: A 4-year-old boy with a history of impulsive behavior had been taking risperidone 0.20 mg/day for four months. He was observed at his primary health care facility (PHCF) due to a bilateral whitish nipple discharge within one week of evolution. No other symptoms were reported. On physical examination, bilateral galactorrhea was observed. The remaining physical examination was normal. A blood test revealed normal thyroid hormone levels but an increased serum prolactin. Risperidone was discontinued, additional blood tests were scheduled, and the patient was referred to a pediatric endocrinology (PE) consultation. He became asymptomatic after two weeks of discontinuing risperidone. He maintained reassessment appointments at his PHCF. At PE consultation, he repeated blood tests which revealed normalized prolactin levels. For the management of persistent impulsive behavior, paliperidone was initiated at a dosage of 3 mg/day. However, after four months, bilateral galactorrhea recurred. Paliperidone was also discontinued and psychoeducation measures were emphasized. Comment: The authors aim to emphasize that antipsychotic drugs are among the main causes of galactorrhea, even in children. Despite the serious differential diagnosis of galactorrhea, suspending imbalance-predisposing hormonal drugs can be a valid therapeutic test, avoiding unnecessary imaging exams in the initial phase of the investigation.

ABSTRACT BACKGROUND: Temporomandibular disorders (TMD) are a major cause of non-dental pain in the oral and facial regions. OBJECTIVE: This study aimed to determine the prevalence and severity of TMD and anxiety among academics and to investigate the relationship between TMD and its associated factors. DESIGN AND SETTING: This cross-sectional study included a sample of 295 academics undertaking health courses at a university in Brazil. METHODS: The Simplified Anamnesis Index and Beck Anxiety Inventory were used to evaluate TMD and assess anxiety, respectively. Data were statistically analyzed using relative and absolute frequencies of variables. In the bivariate analysis, Pearson’s chi-square test was used, and in the multivariate analysis, raw and adjusted binary logistic regressions were used to obtain the odds ratio (OR) and respective 95% confidence intervals. Statistical significance was set at P < 0.05. RESULTS: The average age of academics was 22.95 (standard deviation ± 6.14) years, predominantly comprising women (82.7%), whites (90.8%), and singles (86.6%). The findings revealed that 81.2% of academics had TMD and 50.5% exhibited symptoms of anxiety. Academics with anxiety were three times more likely to have TMD (OR = 3.6) than those without anxiety. CONCLUSION: A significant association between anxiety and TMD was observed in academics. The prevalence of TMD was high, with academics with anxiety having a high likely to develop TMD. These findings highlight the importance of addressing mental health concerns in addition to physical health, as they are often related. BACKGROUND (TMD nondental non dental regions OBJECTIVE factors SETTING crosssectional cross sectional 29 Brazil METHODS respectively variables analysis Pearsons Pearson s chisquare chi square OR 95 intervals 005 0 05 0.05 RESULTS 2295 22 22.9 standard 6.14 614 6 14 years 82.7%, 827 82.7% , 82 7 (82.7%) 90.8%, 908 90.8% 90 8 (90.8%) 86.6%. 866 86.6% . 86 (86.6%) 812 81 2 81.2 505 50 5 50.5 3.6 36 3 CONCLUSION related 9 00 0.0 229 22. 6.1 61 1 82.7 (82.7% 90.8 (90.8% 86.6 (86.6% 81. 50. 3. 0. 6. 82. (82.7 90. (90.8 86. (86.6 (82. (90. (86. (82 (90 (86 (8 (9 (

ABSTRACT Objective: Learning disability leads to school dropout and low self-esteem in childhood, low socioeconomic status, increased criminality, and incarceration in adulthood. Pediatricians are key professionals who can diagnose and prevent this. The objective of the study was the early detection and reference of children with learning disabilities as identified by their schoolteachers. Methods: The protocol included: specific anamnesis with parents; Snellen test; audiometry and central auditory processing test; referral to speech therapists, ophthalmologists, otorhinolaryngologists, psychiatrists, psychologists, and neurologists if necessary; validated screening tests to evaluate literacy and mathematics reasoning skills; and development of a report for parents and teachers on the suspected diagnosis, professional referral, and curricular adjustments. Results: A total of 15 patients were evaluated in 1 year, with a mean age of 10.3 years, median school fourth grade, and mostly males (80%). The time for final report delivery was 6.4 months. Visual impairment was identified in 35.7% and central auditory processing impairment in 100% of patients. For writing and reading skills, seven children had below average and two children had average scores; for mathematics skills, five had below average, one average, and one higher score. Six children were illiterate and were suspected of having autism spectrum disorder, attention-deficit hyperactivity disorder, oppositional defiant disorder, intelligence disability, or borderline intelligence coefficient. Conclusions: A specific protocol helped to identify sensory organ impairments and psychological and psychiatric conditions, quantify school hardship, and provide a report with a suspected diagnosis and referral for treatment of learning disabilities. Larger population studies and a control group are necessary to validate this protocol. Objective selfesteem self esteem childhood status criminality adulthood schoolteachers Methods included test therapists ophthalmologists otorhinolaryngologists psychiatrists psychologists skills adjustments Results year 103 10 3 10. years grade 80%. 80 80% . (80%) 64 6 4 6. months 357 35 7 35.7 100 scores score disorder attentiondeficit attention deficit coefficient Conclusions conditions hardship 8 (80% 35. (80 (8 (

RESUMO Objetivo: A dificuldade de aprendizagem é causa de abandono escolar, redução de renda e risco de encarceramento. O pediatra é um profissional-chave para o diagnóstico e prevenção desse desfecho. O objetivo deste estudo foi detectar precocemente e referir crianças com dificuldade de aprendizagem encaminhadas da escola. Métodos: O protocolo incluía a realização de anamnese com os pais; teste de Snellen, audiometria e processamento auditivo central; encaminhamento para fonoaudiólogo, oftalmologista, otorrinolaringologista, psiquiatra, psicólogo e neurologista se necessário; teste de rastreio validado para leitura, escrita e matemática; relatório final com a suspeita diagnóstica, encaminhamento para profissionais e adequação curricular. Resultados: Em um ano foram avaliados 15 pacientes, com média de idade 10,3 anos, 80% do sexo masculino e mediana de série escolar quarto ano. O relatório foi entregue para pais em média após 6,4 meses. Alterações visuais e de processamento auditivo foram observadas em 35,7 e 100%, respectivamente. O resultado para escrita e leitura foi abaixo da média em sete crianças e na média em duas; para matemática, cinco crianças ficaram abaixo da média, uma na média e uma acima da média. Seis crianças não eram alfabetizadas e as suspeitas diagnósticas foram transtorno do espectro autista, déficit de atenção e hiperatividade, transtorno desafiador opositivo, deficiência intelectual ou inteligência borderline. Conclusões: O protocolo ajudou a identificar causas orgânicas de dificuldade de aprendizagem, quantificou a dificuldade e produziu um relatório com suspeita diagnóstica e encaminhamentos necessários para auxiliar no tratamento das crianças. Estudos com maiores populações e grupo controle são necessários para validar o protocolo. Objetivo encarceramento profissionalchave profissional chave desfecho escola Métodos Snellen central fonoaudiólogo oftalmologista otorrinolaringologista psiquiatra necessário matemática curricular Resultados 1 pacientes 103 10 3 10, anos 80 64 6 4 6, meses 357 35 7 35, 100 100% respectivamente duas autista hiperatividade opositivo borderline Conclusões 8

ABSTRACT Optic neuritis is an important cause of unilateral and acute visual loss in young adults, but other differential diagnoses should be considered, especially when the disease has an atypical presentation. This report presents the case of a young woman with reduced visual acuity in her right eye, associated with optic disc edema and a relative afferent pupillary defect, that was initially misdiagnosed as optic neuritis and subsequently found to have paracentral acute middle maculopathy, possibly secondary to subtle impending central retinal vein occlusion. This case emphasizes the need to remember that retinal vascular diseases can occasionally mimic optic neuritis. Detailed anamnesis and ophthalmic examination can avoid unnecessary interventions. adults considered presentation eye defect maculopathy occlusion interventions

ABSTRACT: Acute abdomen cases are among the most prevalent and challenging illnesses in equine medicine. The diagnosis includes anamnesis and detailed clinical evaluation of the patient, allowing the gathering of several important information and, additionally, the use of complementary exams helps to define the diagnosis and prognosis of each case. This research applied the multiple correspondence analysis (MCA) in data referring to clinical examination information and outcome of horses with colic referred to a hospital in Rio Grande do Sul, Brazil. Fifty eight horses were included in the analysis and, it was possible to identify significant differences between the groups, survivors and non-survivors. Related to clinical signs, non-survivor cases are distinguished by severe pain, lack of motility, mucosal alteration, capillary refill time greater than 2sec, heart rate more than 48bpm and presence of nasogastric reflux. As complementary exams, hematocrits and blood lactate demonstrate significative difference among the groups. The cardiovascular parameters, including heart rate, mucosal color and capillary refill time, were the variables with the greatest contribution to discriminate animals that non-survive from those that were discharged. Thus, clinical evaluation should not be underestimated and complementary exams should be used in conjunction to seek a better prognosis. The MCA allowed to visualize the data and predict the outcome of the patients. ABSTRACT medicine patient additionally case (MCA Sul Brazil groups nonsurvivors. nonsurvivors non survivors. non-survivors signs nonsurvivor survivor pain motility alteration 2sec sec bpm reflux parameters nonsurvive survive discharged Thus patients

RESUMO: Os casos de abdome agudo estão entre as doenças mais prevalentes e desafiadoras na medicina equina. O diagnóstico inclui a realização de anamnese e avaliação clínica detalhada do paciente, permitindo a coleta de diversas informações importantes e, adicionalmente, a utilização de exames complementares ajuda a definir o diagnóstico e prognóstico de cada caso. O objetivo principal deste trabalho foi aplicar a análise de correspondência múltipla (ACM) em dados referentes ao exame clínico e desfecho de cavalos com cólica encaminhados para um hospital no Rio Grande do Sul, Brasil. Foram incluídos 58 cavalos na análise e foi possível identificar diferenças significativas entre os grupos, sobreviventes e não sobreviventes. Relacionado aos sinais clínicos, os casos de óbito distinguem-se por dor intensa, falta de motilidade, alteração da mucosa, tempo de preenchimento capilar maior que 2seg., frequência cardíaca maior que 48bpm e presença de refluxo nasogástrico. Como exames complementares, o hematócrito e o lactato sanguíneo demonstraram diferença significativa entre os grupos. Os parâmetros cardiovasculares, como batimento cardíaco, coloração de mucosas e tempo de preenchimento capilar, foram as variáveis com maior contribuição para diferenciar animais que não sobreviveram dos que receberam alta hospitalar. Assim, a avaliação clínica não deve ser subestimada e os exames complementares devem ser utilizados em conjunto para buscar um melhor prognóstico. A ACM permitiu visualizar os dados e prever o desfecho dos pacientes. RESUMO equina paciente adicionalmente caso (ACM Sul Brasil 5 grupos clínicos distinguemse distinguem se intensa motilidade mucosa 2seg seg 2seg. bpm nasogástrico cardiovasculares cardíaco hospitalar Assim pacientes

Resumo: A encefalopatia hepática consiste na disfunção ou deterioração cerebral, consequente a condições como a insuficiência hepática e a hipertensão portal, e é classificada no domínio médico como uma complicação clínica grave associada a lesões hepáticas graves. Foi efectuado um estudo de revisão sistemática qualitativa aplicando a declaração PRISMA 2020, utilizando os documentos disponíveis nas diferentes bases de dados e operadores booleanos para a pesquisa. A partir dos documentos selecionados, foi possível obter 840 referências de informação numa primeira pesquisa nas bases de dados e 8 registros de dados. Por fim, obteve-se um total de 16 fontes bibliográficas para a investigação. A encefalopatia hepática é uma síndrome neuropsiquiátrica que inclui comprometimento psicomotor e/ou sensorial, desorientação, incoordenação, comprometimento da memória, confusão, sonolência, estupor e coma, e existem várias ferramentas para o diagnóstico no primeiro nível de cuidados, Um dos principais instrumentos é a anamnese e o exame físico do doente, onde se esperam encontrar achados cognitivos e neuromusculares relacionados com a doença hepática grave. Os estudos complementares incluem testes laboratoriais, os critérios de West Haven, testes psicométricos, testes neurofisiológicos e estudos de neuroimagem, como a ressonância magnética.

Abstract: Hepatic encephalopathy consists of brain dysfunction or deterioration, consequent to conditions such as hepatic insufficiency and portal hypertension, and in the medical field it is cataloged as a serious clinical complication associated with severe liver damage. A qualitative study of systematic review was carried out applying the PRISMA 2020 statement, using the documents available in the different databases and Boolean operators for the search. From the selected documents it was possible to obtain 840 references of information in a first search in the databases and 8 data records. Finally, a total of 16 bibliographic sources were obtained for the research. Hepatic encephalopathy is composed of a neuropsychiatric syndrome that includes psychomotor and/or sensory impairment, disorientation, incoordination, memory alteration, confusion, somnolence, stupor and coma, there are several tools for diagnosis from the first level of care, One of the main ones is the anamnesis and physical examination of the patient where it is expected to find cognitive and neuromuscular findings related to severe liver disease, among the complementary studies are mainly used laboratory tests, West Haven Criteria, psychometric test, neurophysiological test and neuroimaging studies such as magnetic resonance imaging.

Resumen: La encefalopatía hepática consiste en la disfunción o deterioro cerebral, consecuente a afecciones como insuficiencia hepática e hipertensión portal, en el ámbito médico es catalogada como una grave complicación clínica asociada al daño hepático severo. Se llevó a cabo un estudio cualitativo de revisión sistemática aplicando la declaración PRISMA 2020, en donde se utilizó los documentos disponibles en las diferentes bases de datos y con la aplicación de los operadores booleanos para su búsqueda. De los documentos seleccionados se pudieron obtener 840 referencias de información en una primera búsqueda en las bases de datos y 8 registros de datos. Finalmente, para la investigación se consiguió un total de 16 fuentes bibliográficas. La encefalopatía hepática se compone de un síndrome neuro-psiquiátrico que incluye deterioro psicomotor y/o sensitivo, desorientación, incoordinación, alteración de la memoria, confusión, somnolencia, estupor y coma, existen diversas herramientas para el diagnóstico desde el primer nivel de atención, una de las principales es la anamnesis y la exploración física del paciente donde se espera encontrar hallazgos cognitivos y neuromusculares relacionados a la enfermedad hepática grave, entre los estudios complementarios se emplea principalmente exámenes de laboratorio, Criterios de West Haven, prueba psicométrica, prueba neurofisiológica y estudios de neuroimagen como resonancia magnética.

RESUMEN Introducción: se realizó el trabajo con el objetivo de evaluar la calidad del registro de las historias clínicas físicas y electrónicas de la consulta externa del servicio de odontología en el Hospital II de Abancay en Perú. Métodos: Se realizó un estudio con enfoque cuantitativo, observacional, transversal, no experimental y retrospectivo. Se seleccionó una muestra de 368 historias clínicas físicas y electrónicas activas. Los datos se procesaron con el Microsoft Excel 2016. Se aplicó una escala ordinal para la evaluación de la calidad de los registros. Resultados: La calidad del registro de los formatos en las historias clínicas quedó evaluado: Filiación, Bien en las físicas (85,1 %) y 83,6 % en las electrónicas; Anamnesis, Regular en las físicas (59,6 %) y 57,1 % en las electrónicas; Examen físico, Bien en las físicas (72,0 %) y Regular en las electrónicas (69,3 %); Examen auxiliar, Bien en las físicas y electrónicas (94,0 % y 50,3 % respectivamente); Diagnóstico, Excelente en ambos tipos de historias (99,6 %); Tratamiento, Bien en las físicas y electrónicas (60,6 % y 100 % respectivamente). Ambos tipos de historias clínicas fueron evaluadas de Bien. Discusión: En el Hospital II de Abancay se identificó Diagnóstico como el formato con mejor calidad de sus registros y único de excelencia, mientras Anamnesis resultó el peor en ambos tipos de historias; se identificaron similitudes y diferencias en las evaluaciones de ítems, formatos e historias clínicas en contraste con otros estudios; ambos tipos de historias mostraron resultados similares en la calidad de sus registros a predominio de las evaluaciones de Bien en sus formatos; de manera general las electrónicas obtuvieron evaluaciones discretamente superiores.

ABSTRACT Introduction: To evaluate the quality of the registration of the physical and electronic medical records of the outpatient clinic of the dental service at Hospital II of Abancay in Peru. Methods: A study was carried out with a quantitative, observational, cross-sectional, non-experimental and retrospective approach. A sample of 368 active physical and electronic medical records was selected. The data was processed with Microsoft Exel 2016. An ordinal scale was applied to evaluate the quality of the records. Results: The quality of the registration of the formats in the medical records was evaluated: Affiliation, Good in the physical ones (85.1 %) and 83.6 % in the electronic ones; Anamnesis, Regular in the physical ones (59.6 %) and 57.1 % in the electronic ones; Physical examination, Good in the physical ones (72.0 %) and Fair in the electronic ones (69.3 %); Auxiliary exam, Good in physics and electronics (94.0 % and 50.3 % respectively); Diagnosis, Excellent in both types of stories (99.6 %); Treatment, Good in physical and electronic (60.6 % and 100 % respectively). Both types of medical records were evaluated as Good. Discussion: At Hospital II of Abancay, Diagnosis was identified as the format with the best quality of its records and the only one of excellence, while Anamnesis was the worst in both types of histories; Similarities and differences were identified in the evaluations of items, formats and clinical histories in contrast to con studies; Both types of stories showed similar results in the quality of their records, with Good evaluations predominating in their formats; in general, the electronic ones obtained slightly higher evaluations.

RESUMEN: El Síndrome Braquicefálico (BOAS, del inglés Brachycephalic Obstructive Airway Syndrome), es la dificultad respiratoria causada por el acortamiento craneal en los perros, llamado pedomorfismo. A partir de esta condición se generan alteraciones morfológicas en el tracto respiratorio alto (TRA) que lo obstruyen, llevando a un mayor esfuerzo inspiratorio de manera permanente. Se entiende que la estenosis de narinas, aberración de cornetes nasales y la elongación-engrosamiento del paladar blando, son las principales alteraciones anatómicas que generan estas obstrucciones. Clínicamente se manifiesta con ruidos respiratorios agregados e intolerancia al ejercicio, limitando las actividades de los perros afectados. Para su diagnóstico, es necesario complementar la anamnesis y el examen clínico con el uso de la imagenología. Se han descrito abordajes médicos, pero la solución definitiva se puede alcanzar mediante la corrección quirúrgica de las alteraciones que causan el BOAS. Por lo anteriormente expuesto, el objetivo de la presente monografía fue realizar una revisión bibliográfica actualizada de las alteraciones anatómicas del TRA, que presentan los perros con BOAS y complementariamente los signos clínicos asociados y su tratamiento quirúrgico. Se utilizaron 47 fuentes bibliográficas en total: 38 artículos de revistas científicas, 6 libros y 3 recursos en línea. Existiendo una relación directa entre el grado de braquicefalia y la presentación del BOAS, se hace necesario establecer límites al pedomorfismo a nivel de los criaderos en base a parámetros objetivos como la CFR o el IC (relación craneofacial, del inglés Craniofacial Ratio; e índice craneal, respectivamente).

SUMMARY: Brachycephalic Obstructive Airway Syndrome (BOAS) is defined as respiratory distress caused by cranial shortening in dogs, called paedomorphism, which leads to morphological alterations in the upper airway causing its obstruction. From this condition, morphological alterations occur in the upper respiratory airways (URA) that can cause obstruction, leading to a permanent increased inspiratory effort. Stenotic nares, aberrant nasal turbinates as well as soft palate elongation and thickening are recognized as primary anatomical abnormalities leading to obstruction. Clinically, it manifests with added respiratory sound and exercise intolerance, limiting activities of the affected dogs. BOAS can be diagnosed by complementing anamnesis and clinical examination with the use of imaging. Despite medical approaches described, the definitive solution is surgical correction of the anatomical abnormalities causing BOAS. Therefore, the aim of this study was to perform an updated bibliographic review of the anatomical alterations of URA affecting dogs with BOAS, as well as the associated clinical signs and surgical treatment. A total of 47 bibliographic sources were used: 38 scientific journal articles, 6 books and 3 online resources. Since there is a direct relationship between the degree of brachycephaly and the BOAS presentation, it is necessary to establish limits to paedomorphism at kennels based on objective parameters such as CFR or IC (Craniofacial Ratio and Cranial Index, respectively).

RESUMEN El panhipopituitarismo puede ser causado por diversas condiciones; una causa muy rara son los aneurismas carotídeos con extensión intraselar, aunque estos representan menos del 0,2 %. La sintomatología descrita está dividida en síntomas por insuficiencia hipofisiaria y por efecto de masa. Se presenta el caso de una paciente de 56 años con antecedentes de hipertensión arterial, hipotiroidismo e infección previa por SARS-CoV-2. Ingresó al hospital por un cuadro clínico que incluía desvanecimientos, hiporexia, sudoración profusa y vómitos persistentes. Durante la evaluación, presentó funciones vitales estables, palidez y no hubo mayor alteración en la exploración neurológica. Los análisis revelaron hiponatremia, hipoglucemia y bicitopenia. Se le diagnosticó un panhipopituitarismo junto con la identificación de un aneurisma carotídeo de gran tamaño con extensión intraselar mediante angiotomografía y resonancia magnética con contraste. Este caso destaca la importancia de considerar como diagnóstico diferencial poco frecuente de panhipopituitarismo a los aneurismas de gran tamaño y gigantes con compresión selar, contribuyendo al conocimiento médico y enfatizando la necesidad de mejorar la anamnesis y estudios clínicos imagenológicos. Además, se deben tener en cuenta las distintas presentaciones clínicas con las que se puede manifestar y la paulatina aparición de alteraciones en los ejes hormonales y que toda lesión a nivel cerebral no es indicativa de tumor. Dentro de la investigación de casos similares, se encontró que la mayoría está dada en pacientes mayores de 50 años, con tiempo de enfermedad variable y con síntomas de efecto de masa en su aparición.

ABSTRACT Panhypopituitarism can be caused by various conditions; among them, a very rare cause is carotid aneurysms with intrasellar extension, though these account for less than 0,2 % . The described symptoms are divided into those caused by pituitary insufficiency and those caused by mass effect. We present the case of a 56-year-old female patient with a history of hypertension, hypothyroidism and a previous SARSCoV-2 infection. She was admitted to the hospital due to clinical features including fainting, decreased appetite, profuse sweating and persistent vomiting. During the evaluation she presented with stable vital signs, and a physical examination indicated pallor, with no significant alteration in the neurological examination. Furthermore, laboratory tests revealed hyponatremia, hypoglycemia and bicytopenia. The diagnosis was panhypopituitarism along with a large carotid aneurysm with intrasellar extension, detected by computed tomography angiography (CTA) and contrast-enhanced MRI. This case highlights the importance of considering a large or giant aneurysm with sellar compression as a rare differential diagnosis of panhypopituitarism, thereby contributing to medical knowledge and emphasizing the need to improve the anamnesis and clinical imaging studies. Furthermore, it is necessary to consider the different clinical features with which it can manifest, as well as the gradual occurrence of alterations in the hormonal axes and to recognize that not every brain lesion is indicative of a tumor. In the investigation of similar cases, it was found that most occur in patients older than 50 years, with different disease durations and with symptoms of mass effect at onset.

Resumen Se analiza el caso de un joven con antecedentes de ictericia desde la niñez y colelitiasis, que presentó dolor abdominal, ictericia y esplenomegalia. Inicialmente, se consideró un diagnóstico de dengue, debido a la prevalencia de esta enfermedad en la región geográfica; sin embargo, pruebas adicionales identificaron esferocitosis hereditaria, un trastorno hemolítico genético. Se destaca la importancia de considerar diagnósticos alternativos frente a síntomas comunes en emergencias. El manejo inicial orientado al dengue fue seguido por un tratamiento dirigido para la esferocitosis hereditaria tras confirmarse el diagnóstico, lo que resultó en una mejora significativa del paciente. Con este caso, se enfatiza la necesidad de una anamnesis profunda y evaluación diagnóstica meticulosa para prevenir errores diagnósticos y tratamientos inadecuados; se subraya cómo las enfermedades hereditarias pueden mimetizar condiciones infecciosas en escenarios clínicos complejos.

Abstract This case discusses a young man with a history of jaundice since childhood and cholelithiasis, who presented with abdominal pain, jaundice and splenomegaly. Initially, a diagnosis of dengue was considered, because of the prevalence of this disease in the patient's geographic region. However, additional testing identified hereditary spherocytosis, a genetic hemolytic disorder. The importance of considering alternative diagnoses in the face of common symptoms in emergencies is emphasized. Initial dengue-oriented management was followed by targeted treatment for hereditary spherocytosis after the diagnosis was confirmed. The result was a significant improvement in the patient. This case emphasizes the need for thorough anamnesis and meticulous diagnostic evaluation to prevent diagnostic errors and inappropriate treatment, highlighting how inherited diseases can mimic infectious conditions in complex clinical scenarios.

Resumo Introdução: As vasculites são um grupo heterogéneo de doenças imunomediadas definidas pela inflamação dos vasos sanguíneos. Podem afetar vasos de qualquer calibre, resultando numa ampla variedade de sinais e sintomas, o que dificulta o seu diagnóstico. O caso clínico apresentado mostra a importância de uma anamnese e exame objetivo cuidados, atentando em potenciais fatores desencadeadores, nomeadamente a toma de medicação. Descrição do caso: Homem, 71 anos, com antecedentes pessoais de hipertensão arterial, hipertrigliceridemia e hipertrofia benigna da próstata, medicado com losartan + amlodipina e dutasterida + tansulosina. Recorreu à consulta por quadro compatível com infeção respiratória baixa, não complicada. Foi feito o diagnóstico de pneumonia adquirida na comunidade e medicado com amoxicilina 500 mg 8/8 h durante sete dias, com melhoria sintomática. Contudo, ao décimo dia após iniciar antibiótico inicia um agravamento progressivo com prostração, hemorragia subconjuntival bilateral e surgimento de novo de lesões maculares dolorosas ao toque dispersas nas palmas das mãos e face ventral dos punhos. Nas análises destacavam-se alterações sugestivas de inflamação e autoimunidade, pelo que se presumiu diagnóstico de vasculite de hipersensibilidade à amoxicilina, tendo sido medicado com corticoterapia com melhoria sintomática. Comentário: Neste caso, a apresentação multissistémica e com boa resposta à corticoterapia aponta para um diagnóstico de vasculite. As lesões cutâneas associadas a episclerite e astenia são mais sugestivas de vasculite dos pequenos vasos. Esta é potencialmente secundária a uma reação de hipersensibilidade à medicação com amoxicilina, tendo em conta a evolução temporal do quadro, sugestiva de associação. Para realizar este difícil diagnóstico, o médico de família, pela natureza do seu trabalho e acompanhando longitudinalmente o doente, está capacitado para identificar casos com evolução temporal e associações entre patologias e medicações anteriores.

Abstract Introduction: Vasculitis is a heterogeneous group of immune-mediated diseases defined by the inflammation of blood vessels. They can affect vessels of any caliber, resulting in various signs and symptoms, making the diagnosis difficult. This case report shows the importance of anamnesis and careful objective examination, paying attention to potential triggering factors, namely medication intake. Case description: Male, 71 years old, with a personal history of arterial hypertension, hypertriglyceridemia, and benign prostatic hypertrophy, medicated with losartan + amlodipine and dutasteride + tamsulosin. The patient sought consultation due to a condition compatible with an uncomplicated lower respiratory infection. A diagnosis of community-acquired pneumonia was made, and he was medicated with amoxicillin 500 mg 8/8 h for seven days, with improvement of the symptoms. However, on the tenth day after starting antibiotic treatment started with progressive worsening, with prostration, bilateral subconjunctival haemorrhage, and the appearance of new macular lesions, painful to the touch, dispersed in the palms of the hands and ventral face of the wrists. In the blood tests alterations suggestive of inflammation and autoimmunity were highlighted, which led to a presumed diagnosis of amoxicillin hypersensitivity vasculitis and was medicated with corticosteroid therapy with symptomatic improvement. Comment: In this case, the multisystemic presentation and the positive response to corticosteroid therapy points to a diagnosis of vasculitis. Skin lesions associated with episcleritis, and asthenia are more suggestive of small vessel vasculitis. This is potentially secondary to a hypersensitivity reaction to the medication with amoxicillin, considering the temporal evolution of the condition, suggestive of an association. To carry out this difficult diagnosis, the general practitioner, by the nature of his work, accompanying the patient longitudinally, is uniquely qualified to identify cases with temporal evolution and associations between pathologies and previous medications.

Resumen Introducción : La deficiencia de vitamina A puede producir enfermedad ocular y se ha relacionado con la selectividad alimentaria en niños con trastorno del espectro autista (TEA). Métodos : Se describen una serie de 13 pacientes pediátricos con compromiso oftalmológico grave como manifestación inicial de hipovitaminosis A. Resultados : Con deficiencia significativa de Vitami na A, en 11 pacientes se realizaron neuroimágenes. De ellos, 8 tuvieron resultados patológicos con presencia de hiperostosis craneal. En estos se realizó punción lumbar y en 7 de los 8 pacientes se detectó hipertensión endocraneana. Todos tenían selectividad alimentaria y el 61.5 % TEA. Conclusiones : La neuropatía óptica toxico-nutricional es una enfermedad poco frecuente en niños y se pre senta con pérdida visual progresiva, bilateral e indolora debido al daño del nervio óptico, pudiendo generar lesión severa e irreversible del mismo. La anamnesis alimentaria permite la pesquisa temprana de deficien cias de nutrientes en niños con alimentación restricti va, especialmente en pacientes neuro atípicos. Esto es esencial para implementar medidas de prevención y el tratamiento con vitamina A con el fin de evitar conse cuencias irreversibles.

Abstract Introduction : Vitamin A deficiency can cause eye dis ease and has been related to food selectivity in children with autism spectrum disorder (ASD). Methods : A series of 13 pediatric patients with severe ophthalmological involvement as an initial manifesta tion of hypovitaminosis A is described. Results : With significant Vitamin A deficiency, neu roimaging was performed in 11 patients. Of these, 8 had pathological findings with the presence of cranial hyperostosis. Lumbar puncture was performed in these patients and endocranial hypertension was detected in 7 of the 8 patients. All had food selectivity and 61.5% had ASD. Conclusions : Toxic-nutritional optic neuropathy is a rare pathology in children and presents with progressive, bilateral and painless visual loss due to damage to the optic nerve, which can generate severe and irreversible damage to it. Food history allows early detection of nu trient deficiencies in children with restrictive feeding, especially in neuro-atypical patients. This is essential to implement preventive measures and treatment with vitamin A in order to avoid irreversible consequences.

Abstract: Congenital myotonic dystrophy type 1 (DM1) is a rare entity that can pose a diagnostic challenge, especially if other processes such as prematurity coexist. Objective: to describe the typical presentation of congenital DM1 and thus increase diagnostic suspicion. Clinical Case: A 29-week preterm female newborn who required non-invasive mechanical ventilation until 41 weeks postmenstrual age; she presented with apnea requiring manual ventilation with a self-inflating bag and cardiac massage. Initially, it was attributed to prematurity, but on physical examination, hypotonia, hyporeflexia, bilateral Achilles tendon retraction, facial diplegia, and weak sucking were confirmed. These characteristics, together with the respiratory compromise, suggested a possible congenital neuromuscular disease. The patient’s history included infertility in the mother and polyhydramnios during gestation. The examination of the mother showed clinical myotonia, later confirmed by electromyogram, which suggested congenital myotonic dystrophy. This was confirmed genetically, finding 2000 CTG copies in the newborn and 833 in her mother. Conclusions: Apneas and respiratory compromise in a hypotonic and weak newborn are a frequent manifestation of this disease. The presence of myotonia in the mother of a newborn with suspected neuromuscular disease should lead us to think of congenital DM1. This case highlights the importance of an exhaustive anamnesis and physical examination of the patient and her mother as key elements in the etiological diagnostic orientation.

Resumen: La distrofia miotónica tipo 1 (DM1) congénita es una entidad poco frecuente que puede suponer un reto diagnóstico, especialmente si coexisten otros procesos como la prematuridad. Objetivo: Describir un caso clínico de presentación típica de DM1 congénita, y aumentar así la sospecha diagnóstica. Caso Clínico: Recién nacida pretérmino de 29 semanas que precisó ventilación mecánica no invasiva hasta la semana 41 de edad postmenstrual, presentando apneas que se manejaron con ventilación manual con bolsa autoinflable y masaje cardiaco. Inicialmente se atribuyeron a la prematuridad. Sin embargo, la paciente presentaba hipotonía, hiporreflexia, retracción aquilea bilateral, diplejía facial y succión débil, características que junto con el compromiso respiratorio, orientaban a una enfermedad neuromuscular. Como antecedentes destacaba infertilidad en la madre y polihidramnios durante la gestación. En la exploración dirigida a la madre presentaba miotonía clínica, confirmada posteriormente en el electromiograma, lo que orientó a una distrofia miotónica congénita. Se confirmó genéticamente encontrándose 2000 copias CTG en la recién nacida y 833 en su madre. Conclusiones: Las apneas y compromiso respiratorio en un recién nacido hipotónico y débil son una manifestación frecuente de esta enfermedad. La presencia de miotonía en la madre de un recién nacido con sospecha de enfermedad neuromuscular orienta a DM1 congénita. Este caso destaca la importancia de la anamnesis y exploración exhaustiva a la paciente y su madre como elementos claves en la orientación diagnóstica etiológica.

Abstract Introduction Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases. Objective To evaluate the living standard of patients with SCA, by applying the Vestibular Disorders Activities of Daily Living Scale (VADL) and Activitiesspecific Balance Confidence Scale (ABC) questionnaires. Methods An uncontrolled clinical trial study was conducted with 28 patients who underwent anamnesis, ENT evaluation, and vestibular assessment and the application of questionnaires VADL and ABC before and after rehabilitation with virtual reality. Results The vestibular exam was altered in 64.3% of the cases. The result between the correlation of the VADL and ABC questionnaires showed significant results in all cases (p < 0.005). The correlation between the ages and disease length with the VADL and ABC questionnaires was significant in the T3 assessment (p = 0.015). The correlation between the disease length and the VADL questionnaire was significant in all cases (p < 0.005). The comparison of the vestibular rehabilitation result (T1 to T2) showed a significant difference for all the applied games, except for the ski slalom. The comparison of the vestibular rehabilitation result (T1 to T3) showed significant difference for all the applied games (p < 0.005) (1st assessment before the start of rehabilitation designated T1, after 10 rehabilitation sessions, considered T2 and, at the end of 20 rehabilitation sessions, called T3). Conclusion We can point out a direct improvement in the living standard, reflected by the reduction of falls, better balance, and march, contributing to a higher self-confidence in patients in daily activities. SCAs (SCAs diseases SCA (VADL (ABC 2 anamnesis evaluation reality 643 64 3 64.3 p 0.005. 0005 0.005 . 0 005 T 0.015. 0015 0.015 015 0.015) T1 (T slalom 1st st 1 sessions T3. falls balance march selfconfidence self confidence activities 6 64. 000 0.00 00 001 0.01 01 0.0 0.

Resumen Introducción. La transposición de los órganos debido al situs inversus (SI) es una rara afección que dificulta el diagnóstico de la apendicitis aguda. Esta condición hace que la sintomatología del paciente y los hallazgos al examen físico puedan ser atípicos, lo que demanda el uso de imágenes para la confirmación diagnóstica en la mayoría de los casos. Métodos. Se describieron tres casos de apendicitis en pacientes con diagnóstico de situs inversus. Dos de ellos tenían el antecedente conocido, mientras el tercer caso fue diagnosticado de forma intraoperatoria. Resultados. En dos pacientes se decidió llevar a cirugía vía laparoscópica sin imágenes diagnósticas adicionales. Los pacientes evolucionaron de manera satisfactoria. Conclusión. Siempre se debe considerar la apendicitis dentro de los diagnósticos diferenciales en los pacientes con dolor en fosa ilíaca izquierda. Es fundamental diagnosticar y tratar la apendicitis de manera efectiva para minimizar las complicaciones asociadas. La importancia de la anamnesis y la sospecha clínica del examinador son vitales en estos casos, que se pueden confirmar con las imágenes diagnósticas. Pueden existir casos en donde la condición clínica del paciente no permita la realización de estudios diagnósticos por imágenes; esto apoya cada vez más el uso del abordaje laparoscópico. Se recomienda considerar el abordaje laparoscópico en primera instancia, ya que nos permite la confirmación diagnóstica de situs inversus totalis en caso de que el antecedente sea desconocido y facilita el manejo oportuno de la urgencia.

Abstract Introduction. Organ transposition due to situs inversus (SI) is a rare condition that makes the diagnosis of acute appendicitis difficult. This condition entails that the patient’ symptoms and physical examination findings may be atypical, which requires the use of images for diagnostic confirmation in most cases. Clinical cases. Three cases of appendicitis in patients diagnosed with situs inversus are described. Two of them had a known medical history, while the third case was diagnosed intraoperatively. Results. In two patients it was decided to undergo laparoscopic surgery without additional diagnostic images. The patients progressed satisfactorily. Conclusion. Appendicitis should always be considered in the differential diagnoses in patients with pain in the left iliac fossa. It is essential to diagnose and treat appendicitis effectively to minimize associated complications. The importance of the anamnesis and the examiner’s clinical suspicion are vital in these cases, which can be confirmed with diagnostic images. There may be cases where the patient’s clinical condition does not allow diagnostic imaging studies to be performed, increasingly supports the use of the laparoscopic approach. It is recommended to consider the laparoscopic approach in the first instance, since it allows us to confirm the diagnosis of situs inversus totalis in case the history is unknown and facilitates timely management of the emergency.