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We report a 12-month-old boy with a skin eruption that developed 15 days after receiving the measles, mumps, rubella (MMR), pneumococcal, and meningococcal vaccines, consistent with the diagnosis of Wells syndrome. Patch testing showed a positive reaction to gelatin, which is used as a stabilizer for both live and inactivated vaccines. Gelatin was only present in the MMR vaccine.
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Histiocitoma Fibroso Benigno , Neoplasias Cutáneas , Humanos , Masculino , Histiocitoma Fibroso Benigno/patología , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/diagnóstico por imagen , Histiocitoma Fibroso Benigno/cirugía , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/diagnóstico , Persona de Mediana EdadRESUMEN
Sneddon's syndrome is a rare condition characterized by the presence of neurocutaneous lesions, including reticular livedo and an increase in thrombotic risk, and it is associated with a greater risk of cerebrovascular disease. It is diagnosed through a skin biopsy and neurological manifestations. In this study, we present a clinical report of a 39-year-old nurse exposed to shift and night work in an intensive care unit. She was diagnosed with Sneddon's syndrome, whose workplace had to be readapted, considering the complications and restrictions of her condition and aiming her protection and healthcare promotion. Night work can exacerbate cerebral and cardiovascular events due to its impact on metabolism, blood pressure profile, and hormone concentrations. Therefore, given a syndrome characterized by an increased thrombotic risk associated with cerebrovascular events, the restriction of night work is imperative. The occupational physician is responsible for intervening in the workplace and preventing long-term consequences for employees.
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Valor Predictivo de las Pruebas , Humanos , Masculino , Persona de Mediana Edad , Femenino , Anciano , Presión Sanguínea , Determinación de la Presión Sanguínea , Grosor Intima-Media Carotídeo , Arterias Carótidas/fisiopatología , Arterias Carótidas/diagnóstico por imagen , Rigidez VascularRESUMEN
The fabella is an inconstant sesamoid bone. A handful of cases have been reported so far describing fabella fracture, usually involving high energy mechanism or stress fractures after total knee arthroplasty. This paper presents a fabella fracture in a man in his 40s after suffering a car crash, the clinical and radiographic presentation, treatment and complete recovery at 4-months follow-up.
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Artroplastia de Reemplazo de Rodilla , Fracturas por Estrés , Huesos Sesamoideos , Humanos , Masculino , Fracturas por Estrés/cirugía , Imagen por Resonancia Magnética , Huesos Sesamoideos/diagnóstico por imagen , Huesos Sesamoideos/cirugía , AdultoRESUMEN
Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR MIM #242150) is a very rare disorder caused by pathogenic loss-of-function variants in the AP1B1 gene. So far, nine patients have been reported in the literature and more clinical descriptions are essential to further delineate the phenotype of KIDAR. Here we report a new patient with KIDAR and compare the clinical findings with those from the other published cases with molecular confirmation. We describe a 14-year-old male born to non-consanguineous parents with unremarkable family history. The patient had fetal ascites, neonatal pancreatic insufficiency with consequent failure to thrive, feeding difficulties, recurrent infections and sepsis. The skin examination was remarkable for an ichthyosis with conspicuous palmoplantar keratoderma, sparse and brittle hair with alopecia on the vertex and slight bilateral ectropion. He had short stature, thin build, frontal bossing, small teeth and prominent abdomen. Additional features were congenital profound bilateral sensorineural deafness, photosensitivity and photophobia. Mild global developmental delay was noted. Persistent mild anemia, neutropenia, thrombocytopenia, and low serum copper, ceruloplasmin and growth hormone were also present. Brain magnetic resonance imaging (MRI) showed cerebral atrophy and thin corpus callosum. Genetic testing revealed a homozygous deletion in the AP1B1 gene, possibly including the same exons as a previously reported deletion. Comparing the phenotypes of all reported individuals, they are highly concordant and major features are enteropathy with feeding difficulties, failure to thrive, ichthyosis, palmoplantar keratoderma, sensorineural deafness and sparse and brittle hair. Here we report other features present in more than one patient that could be part of the phenotypic spectrum and suggest copy number variation analysis to be performed alongside sequencing of the AP1B1 gene in case of suspicion.
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Intramuscular hemangiomas (IHs) are benign soft-tissue tumors that represent less than 1% of all hemangiomas. This clinical entity is rarely considered as a differential diagnosis in cases of musculoskeletal pain. A healthy 38-year-old woman presented to our office with complaint of left omalgia, with 8 months of evolution, limiting her daily activities. She reported the appearance of tumefaction in the previous 4 months. She was medicated with analgesic and antiinflammatory drugs with no clinical improvement. The objective examination showed limitation of left shoulder abduction (0-90°). The patient underwent a magnetic resonance imaging (MRI), in which a well-circumscribed nodular formation was detected in the deltoid muscle. Then, she underwent a biopsy, which confirmed the diagnosis of hemangioma. The patient was referred for sclerotherapy. Intramuscular hemangiomas are usually observed in young patients. The gold-standard examination for diagnosis is MRI, which often forestalls the need for a biopsy. In many cases, IHs are asymptomatic and tend to involute over time. Despite the low frequency of this clinical entity, it is important to place it as a diagnostic hypothesis in cases of chronic pain of the limbs in young patients with poor therapeutic response to antiinflammatory drugs and analgesia.
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Abstract Intramuscular hemangiomas (IHs) are benign soft-tissue tumors that represent less than 1% of all hemangiomas. This clinical entity is rarely considered as a differential diagnosis in cases of musculoskeletal pain. A healthy 38-year-old woman presented to our office with complaint of left omalgia, with 8 months of evolution, limiting her daily activities. She reported the appearance of tumefaction in the previous 4 months. She was medicated with analgesic and antiinflammatory drugs with no clinical improvement. The objective examination showed limitation of left shoulder abduction (0-90°). The patient underwent a magnetic resonance imaging (MRI), in which a well-circumscribed nodular formation was detected in the deltoid muscle. Then, she underwent a biopsy, which confirmed the diagnosis of hemangioma. The patient was referred for sclerotherapy. Intramuscular hemangiomas are usually observed in young patients. The gold-standard examination for diagnosis is MRI, which often forestalls the need for a biopsy. In many cases, IHs are asymptomatic and tend to involute over time. Despite the low frequency of this clinical entity, it is important to place it as a diagnostic hypothesis in cases of chronic pain of the limbs in young patients with poor therapeutic response to antiinflammatory drugs and analgesia.
Resumo Os hemangiomas intramusculares (HIs) são tumores benignos de tecidos moles que representam menos de 1% de todos os hemangiomas. Esta entidade clínica raramente é considerada como diagnóstico diferencial nos casos de dor musculoesquelética. Uma paciente do sexo feminino, de 38 anos de idade, saudável, se apresentou ao nosso consultório com queixa de omalgia esquerda, com 8 meses de evolução, que limitava suas atividades diárias. Ela relatou o aparecimento de tumefação 4 meses antes da consulta. A paciente estava medicada com analgésico e antiinflamatório sem melhoria clínica. Ao exame objetivo, ela apresentava limitação da abdução do ombro esquerdo (0-90°). A paciente foi submetida a uma ressonância nuclear magnética (RNM) na qual foi detectada uma formação nodular bem circunscrita no músculo deltoide,. Em seguida, foi realizada uma biópsia que confirmou o diagnóstico de hemangioma. A paciente foi então encaminhada para a realização de escleroterapia. Os HIs normalmente são observados em pacientes jovens. O exame padrão-ouro para o diagnóstico é a RNM, que muitas vezes torna a realização de biópsia desnecessária. Em muitos casos, os HIs são assintomáticos e tendem a involuir com o tempo. Apesar da baixa frequência desta entidade clínica, é importante colocá-la como hipótese de diagnóstico em casos de dor crônica dos membros em pacientes jovens com má resposta terapêutica a antiinflamatórios e analgesia.
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Humanos , Femenino , Adulto , Salud Laboral , Hemangioma , Enfermedades MuscularesRESUMEN
In a clinical context, physicians usually take into account information from more than one data modality when making decisions regarding cancer diagnosis and treatment planning. Artificial intelligence-based methods should mimic the clinical method and take into consideration different sources of data that allow a more comprehensive analysis of the patient and, as a consequence, a more accurate diagnosis. Lung cancer evaluation, in particular, can benefit from this approach since this pathology presents high mortality rates due to its late diagnosis. However, many related works make use of a single data source, namely imaging data. Therefore, this work aims to study the prediction of lung cancer when using more than one data modality. The National Lung Screening Trial dataset that contains data from different sources, specifically, computed tomography (CT) scans and clinical data, was used for the study, the development and comparison of single-modality and multimodality models, that may explore the predictive capability of these two types of data to their full potential. A ResNet18 network was trained to classify 3D CT nodule regions of interest (ROI), whereas a random forest algorithm was used to classify the clinical data, with the former achieving an area under the ROC curve (AUC) of 0.7897 and the latter 0.5241. Regarding the multimodality approaches, three strategies, based on intermediate and late fusion, were implemented to combine the information from the 3D CT nodule ROIs and the clinical data. From those, the best model-a fully connected layer that receives as input a combination of clinical data and deep imaging features, given by a ResNet18 inference model-presented an AUC of 0.8021. Lung cancer is a complex disease, characterized by a multitude of biological and physiological phenomena and influenced by multiple factors. It is thus imperative that the models are capable of responding to that need. The results obtained showed that the combination of different types may have the potential to produce more comprehensive analyses of the disease by the models.
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Neoplasias Pulmonares , Humanos , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/patología , Inteligencia Artificial , Detección Precoz del Cáncer/métodos , Tomografía Computarizada por Rayos X/métodos , Pulmón/patologíaRESUMEN
Background: The coronavirus disease 2019 (COVID-19) was classified as a pandemic in March 2020 by the World Health Organization. The Pfizer-BioNTech COVID-19 vaccine was the first to be authorized in the European Union, based on data from phase 1, 2, and 3 clinical trials of limited duration. Concerns have been raised regarding the vaccine's safety profile. Some of the adverse drug reactions (ADRs) associated with vaccines may not have been identified during clinical trials. This study aimed to identify ADRs associated with the Pfizer-BioNTech vaccine in health care professionals at a Portuguese tertiary university hospital. Methods: The data used in this analysis consist of ADRs reported through a spontaneous notification system from vaccines administered between December 27, 2020, and January 31, 2021. ADRs were categorized according to the MedDRA terminology. Results: A total of 8,605 Pfizer-BioNTech vaccines were administered to 4568 health care professionals. ADRs were reported among 520 of the vaccines, with an incidence of 13.56% in women and 5.31% in men. The mean age of the population reporting ADRs was 41.52 years, with a standard deviation of 9.83 years. The most frequent ADRs were myalgia (n = 274), headache (n = 199), pyrexia (n = 164), injection site pain (n = 160), fatigue (n = 84), nausea (n = 81), chills (n = 65), lymphadenopathy (n = 64), and arthralgia (n = 53). Hypersensitivity reactions occurred in 15 health care professionals, with no anaphylactic reactions observed. A total of four Important Medical Events were observed, which consisted of two cases of syncope, one case of sudden hearing loss, and one case of transverse myelitis. Conclusion: The vaccine was well-tolerated among the study participants. Reactogenicity was greater after the second dose. The incidence of ADRs was higher in women and individuals aged between 40 to 49 years. Systemic adverse reactions were most frequently reported. Systematic monitoring of ADRs of COVID-19 vaccines in real-life context is essential for a more robust establishment of its safety profile.