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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.
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ABSTRACT Mantle cell lymphoma of the ocular and periorbital regions is extremely rare but should be considered in the differential diagnosis of lesions affecting the periorbital tissues. In this study, we present a rare case of mantle cell lymphoma of the lacrimal sac in a 65-year-old male presenting with a mass in the lacrimal sac region and epiphora. After clinical examinations and imaging studies, the mucocele was misdiagnosed. Considering the unexpected findings during external dacryocystorhinostomy, a frozen biopsy was performed, which confirmed the diagnosis of lymphoma.
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Cryptococcosis occurs primarily in immunocompromised patients. It is difficult to suspect in an immunocompetent patient presenting with a headache. The clinical manifestations of cryptococcosis can be subtle in a patient whose immune system is responding, but inadequate. This is the report of a case of fatal cryptococcosis initially misdiagnosed as a sinus headache on the basis of a telephone call, and then misdiagnosed as aseptic meningitis on the basis of mild findings and negative cerebrospinal fluid cultures. Autopsy revealed unsuspected severe cryptococcal meningoencephalitis. Cerebrospinal fluid nuclear acid amplification (NAA) panels including Cryptococcus should enable the diagnosis of unsuspected cryptococcal meningitis in most cases, but can be false positive, which could be adjudicated by cryptococcal antigen and culture. It will remain important to test for cryptococcal antigen and to maintain a broad differential diagnosis for all patients with meningitis.
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The majority of central nervous system diseases show high signal intensity on T2-weighted magnetic resonance imaging. Diseases of the central nervous system with low signal intensity are less common, which makes it a finding that helps narrow the differential diagnosis. This was a retrospective analysis of brain and spine magnetic resonance imaging examinations in which that finding was helpful in the diagnostic investigation. We selected the cases of patients examined between 2015 and 2022. All diagnoses were confirmed on the basis of the clinical-radiological correlation or the histopathological findings. We obtained images of 14 patients with the following central nervous system diseases: arteriovenous malformation; cavernous malformation; metastasis from lymphoma; medulloblastoma; embryonal tumor; metastasis from melanoma; Rathke's cleft cyst; Erdheim-Chester disease; aspergillosis; paracoccidioidomycosis; tuberculosis; syphilis; immunoglobulin G4-related disease; and metastasis from a pulmonary neuroendocrine tumor. We described lesions of different etiologies in which the T2-weighted imaging profile helped narrow the differential diagnosis and facilitated the definitive diagnosis.
A grande maioria das doenças do sistema nervoso central apresenta alto sinal em ponderações T2 na ressonância magnética. As alterações com baixo sinal são menos comuns, de forma que essa característica permite estreitar o diagnóstico diferencial. Analisamos, retrospectivamente, pacientes com imagens de ressonância magnética de crânio e/ou coluna em que este achado foi útil na investigação diagnóstica. Os pacientes foram selecionados no período entre 2015 e 2022 e todos tiveram seus diagnósticos confirmados por estudo clinicorradiológico ou por estudo histopatológico. Obtivemos imagens de 14 pacientes com as seguintes afecções: malformação arteriovenosa, cavernoma, metástase de linfoma, meduloblastoma, tumor embrionário, metástase de melanoma, cisto da bolsa de Rathke, doença de Erdheim-Chester, aspergilose, paracoccidioidomicose, tuberculose, sífilis, doença relacionada à IgG4 e metástase de tumor neuroendócrino de pulmão. Descrevemos lesões de diversas origens etiológicas que, a partir de suas características nas imagens ponderadas em T2, foi possível reduzir o quadro de diagnósticos diferenciais e chegar mais facilmente à hipótese final.
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Introdução: O carcinoma basocelular (CBC) de vulva é uma condição rara que corresponde a menos de 0,4% dos casos de CBC e de 2% a 4% das neoplasias de vulva. O CBC de vulva é mais comum entre mulheres brancas, multíparas e na pósmenopausa, especialmente na sétima década de vida. O objetivo é relatar um caso de CBC de vulva no qual discutiram-se os aspectos do diagnóstico e tratamento. Relato de Caso: Mulher de 63 anos de idade, G1P1A0, chega ao consultório em janeiro de 2022 para tratamento de lesão persistente em vulva. Realizou-se biópsia incisional que mostrou tratar-se de provável carcinoma basocelular nodular com invasão da derme. A paciente submeteu-se a uma ressecção do tumor com margens macroscópicas livres e sutura primária. A cirurgia não teve complicações no pré-operatório e no pós-operatório. O histopatológico da peça cirúrgica mostrou tratar-se de carcinoma basocelular nodular com área irregular, plana, branco, medindo 0,7x0,4cm, com as margens laterais distando 7,0 e 5,0mm e profundas, 5,9mm; todas livres. Conclusão: O caso relatado é raro, tendo sido o tratamento de ressecção cirúrgica do CBC de vulva com margens bem-sucedido. Catorze meses após a cirurgia, a paciente encontra-se sem evidências de recidiva local ou regional.
Introduction: Basal cell carcinoma (BCC) of the vulva is a rare condition that accounts for less than 0.4% of BCC cases and 2% to 4% of vulvar neoplasms. BCC of the vulva is more common among white, multiparous and postmenopausal women, especially in the seventh decade of life. The aim is to report a case of BCC of the vulva in which aspects of diagnosis and treatment were discussed. Case report: A 63-year-old woman, G1P1A0, arrives at the office in January 2022 for treatment of a persistent lesion on her vulva. An incisional biopsy was performed and showed that it was likely nodular basal cell carcinoma with invasion of the dermis. The patient underwent tumor resection with free macroscopic margins and primary suture. The surgery had no complications preoperatively or postoperatively. The histopathology of the surgical specimen showed that it was a nodular basal cell carcinoma with an irregular, flat, white area, measuring 0.7x0.4cm, with the lateral margins 7.0 and 5.0mm apart and 5.9mm deep; all free. Conclusion: The reported case is rare, with surgical resection of BCC of the vulva with margins being successful. Fourteen months after surgery, the patient has no evidence of local or regional recurrence.
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O tumor filoide é uma neoplasia fibroepitelial rara que representa 0,3 a 1% de todas as neoplasias mamárias. De acordo com a classificação histopatológica, 12 a 26% são do tipo borderline e aproximadamente 15% desses tumores recorrem após excisão cirúrgica. O tratamento recomendado para todos os tipos de tumor filoide é a excisão cirúrgica, e no caso de tumores gigantes o tratamento deve ser multidisciplinar. Apresentamos o caso de uma mulher de 46 anos com tumor filoide na mama esquerda que recorreu 4 anos após a excisão cirúrgica. O estudo anatomopatológico qualificou-o como tumor gigante e o estudo histopatológico relatou tumor filoide borderline. Foi submetida a excisão cirúrgica com mastectomia esquerda e reconstrução mamária com retalho de grande dorsal mais enxerto de gordura. A paciente apresentou evolução favorável sem recidiva. Concluindo, o tumor filoide gigante borderline recorrente é raro e seu manejo cirúrgico representa um desafio tanto na excisão quanto na reconstrução mamária.
Phyllodes tumor is a rare fibroepithelial neoplasm that represents 0.3 to 1% of all breast neoplasms. According to histopathologic classification, 12 to 26% are borderline type and approximately 15% of these tumors recur after surgical excision. The recommended treatment for all types of phyllodes tumor is surgical excision, and in the case of giant tumors the treatment should be multidisciplinary. We present the case of a 46-yearold woman with a phyllodes tumor in the left breast that recurred 4 years after surgical excision. The anatomopathological study qualified it as a giant tumor and the histopathological study reported a borderline phyllodes tumor. She underwent surgical excision with left mastectomy and breast reconstruction by means of a latissimus dorsi flap plus fat graft. The patient presented a favorable evolution without recurrence. In conclusion, the recurrent giant borderline phyllodes tumor is rare and its surgical management represents a challenge both in breast excision and reconstruction.
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Abstract The majority of central nervous system diseases show high signal intensity on T2-weighted magnetic resonance imaging. Diseases of the central nervous system with low signal intensity are less common, which makes it a finding that helps narrow the differential diagnosis. This was a retrospective analysis of brain and spine magnetic resonance imaging examinations in which that finding was helpful in the diagnostic investigation. We selected the cases of patients examined between 2015 and 2022. All diagnoses were confirmed on the basis of the clinical-radiological correlation or the histopathological findings. We obtained images of 14 patients with the following central nervous system diseases: arteriovenous malformation; cavernous malformation; metastasis from lymphoma; medulloblastoma; embryonal tumor; metastasis from melanoma; Rathke's cleft cyst; Erdheim-Chester disease; aspergillosis; paracoccidioidomycosis; tuberculosis; syphilis; immunoglobulin G4-related disease; and metastasis from a pulmonary neuroendocrine tumor. We described lesions of different etiologies in which the T2-weighted imaging profile helped narrow the differential diagnosis and facilitated the definitive diagnosis.
Resumo A grande maioria das doenças do sistema nervoso central apresenta alto sinal em ponderações T2 na ressonância magnética. As alterações com baixo sinal são menos comuns, de forma que essa característica permite estreitar o diagnóstico diferencial. Analisamos, retrospectivamente, pacientes com imagens de ressonância magnética de crânio e/ou coluna em que este achado foi útil na investigação diagnóstica. Os pacientes foram selecionados no período entre 2015 e 2022 e todos tiveram seus diagnósticos confirmados por estudo clinicorradiológico ou por estudo histopatológico. Obtivemos imagens de 14 pacientes com as seguintes afecções: malformação arteriovenosa, cavernoma, metástase de linfoma, meduloblastoma, tumor embrionário, metástase de melanoma, cisto da bolsa de Rathke, doença de Erdheim-Chester, aspergilose, paracoccidioidomicose, tuberculose, sífilis, doença relacionada à IgG4 e metástase de tumor neuroendócrino de pulmão. Descrevemos lesões de diversas origens etiológicas que, a partir de suas características nas imagens ponderadas em T2, foi possível reduzir o quadro de diagnósticos diferenciais e chegar mais facilmente à hipótese final.
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ABSTRACT We present a rare case of primary caruncle basal cell carcinoma (BCC), a condition with limited occurrences. Our patient, an 80-year-old woman without prior ocular pathological history, presented a 2x2mm pedunculated blackish nodular lesion on the caruncle of her left eye, without local conjunctival or cutaneous involvement. Histological analysis following complete excision confirmed the presence of basal cell carcinoma within the caruncle. Over a span of 30 months, no recurrence has been observed. While scant cases are documented in the literature, we conducted a review of these instances. Despite its infrequent manifestation, this condition should be taken into account when evaluating caruncular tumors, given its tendency to invade the orbit. Complete excision with free surgical margins is the treatment of choice, and adjuvant radiotherapy or chemotherapy might be considered.
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Abstract Background The diagnosis of Hansen disease (HD) can be difficult when acid-fast bacilli are not detected in the patient's skin sample. Objective To demonstrate that detailed morphological analysis of nonspecific inflammatory and/or noninflammatory alterations in dermal nerves as well as skin adnexa in leprosy-suspected biopsy samples could improve the efficacy of histopathological diagnosis. Methods Patients with one to five skin lesions were enrolled in the study and classified into three groups by skin histopathology findings: Hansen disease (HD, n = 13), other diseases (OD, n = 11), and inconclusive cases (INC, n = 11). We quantified dermal nerve damage via the nerve lesion index (NLI) and PGP9.5-immunoreactive axon quantitative index in dermal nerves (AQI). We also measured inflammatory involvement of adnexa in cutaneous samples as indirect evidence of HD. Results We observed a higher median endoneurial inflammatory infiltrate NLI (HD = 0.5; INC = 0; OD = 0; p < 0.001) and more frequent inflammatory involvement of skin adnexa in samples of the HD group compared with those of the INC and OD groups (HD = 7; INC = 1; OD = 0). However, samples from the INC and OD groups also showed inflammatory and noninflammatory damage of dermal nerves, with 2 or more kinds of alterations in nerves in the same sample (respectively: INC = in 1 and 2 samples; OD = in 3 and 5 respectively). The quantification of PGP9.5-immunoreactive axons in dermal nerves revealed no difference between the groups. Conclusion A detailed morphological analysis of cutaneous nerves in lesions with a suspicion of HD enabled us to select patients with nonspecific inflammatory or non-inflammatory lesions in the dermal nerves in the INC and OD groups, so they may be clinically monitored aiming at a possible future diagnosis of the disease. These INC and OD patients cannot have the HD diagnosis definitely excluded, and HD may coexist with another disease as a comorbidity.
Resumo Antecedentes A hanseníase pode ter o seu diagnóstico histopatológico dificultado quando bacilos álcool-ácido resistentes não são encontrados nas amostras de pele dos pacientes. Objetivo Demonstrar que uma análise morfológica detalhada de alterações histopatológicas dos nervos dérmicos pode aumentar a eficácia diagnóstica. Métodos Foram selecionadas amostras de pele de pacientes com uma a cinco lesões suspeitas de hanseníase. Os casos selecionados foram classificados conforme achados histopatológicos: hanseníase (HD, n = 13), casos inconclusivos (INC, n = 11), e outras doenças (OD, n = 11). Quantificamos as lesões dos nervos cutâneos por meio do índice de lesão de nervos (nerve lesion index, NLI, em inglês) e do índice quantitativo de axônios (axon quantitative index, AQI, em inglês) imunorreativos a PGP9.5 nos nervos cutâneos. Também medimos o envolvimento inflamatório dos anexos em amostras de pele como evidência indireta de hanseníase. Resultados Foram observadas no grupo HD medianas mais altas do NLI com relação a infiltrados inflamatórios endoneurais (HD = 0,5; INC = 0; OD = 0; p < 0,001) e mais alta frequência de acometimento inflamatório de anexos cutâneos (HD = 7; INC = 1; OD = 0). Entretanto, as amostras dos grupos INC e OD também mostraram comprometimento inflamatório e não inflamatório dos nervos cutâneos, com 2 ou mais tipos de alterações de nervos na mesma amostra (respectivamente: INC = 1 e 2; OD = 3 e 5). Não houve diferença significativa na quantidade de axônios endoneurais imunorreativos a PGP9.5 entre os grupos. Conclusão A análise morfológica detalhada dos nervos cutâneos em lesões suspeitas de hanseníase permitiu selecionar pacientes com lesões inespecíficas inflamatórias ou não inflamatórias nos nervos dérmicos nos grupos INC e OD, para que sejam monitorados clinicamente visando um possível diagnóstico futuro da doença. Esses pacientes INC e OD não podem ter o diagnóstico de HD definitivamente excluído, e a hanseníase pode coexistir com outra doença como uma comorbidade.
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Abstract In this study, we present a 4-year-old male patient with a slowly growing painless mass in the palm of his left hand for 2 years. Although musculoskeletal tumors are rare, hand localized tumors are even rarer in pediatric patients. The fact that very few (less than one in ten) tumors are malignant and there are dozens of subtypes, each with different treatment management, shows the importance of the management of these lesions. Appropriate diagnosis and management of soft tissue masses, especially insidious malignant tumors, is vital. Due to the rarity of soft tissue tumors, adequate guidelines for their management are limited. The purpose of this report is to present an example of the approach to one of the soft tissue tumors.
Resumo Neste estudo, apresentamos um paciente do sexo masculino de 4 anos com uma massa indolor de crescimento lento na palma da mão esquerda há 2 anos. Embora os tumores musculoesqueléticos sejam raros, os tumores localizados nas mãos são ainda mais raros em pacientes pediátricos. O fato de pouquíssimos (menos de um em cada dez) tumores serem malignos e existirem dezenas de subtipos, cada um com tratamento diferente, mostra a importância do manejo dessas lesões. O diagnóstico e manejo apropriados de massas de tecidos moles, especialmente tumores malignos insidiosos, são vitais. Devido à raridade dos tumores de tecidos moles, as diretrizes adequadas para seu manejo são limitadas. O objetivo deste relato é apresentar um exemplo de abordagem de um dos tumores de partes moles.
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Introdução: Os arcos branquiais são os precursores embriológicos da face, pescoço e faringe. As anomalias dos arcos branquiais são a segunda lesão congênita mais comum de cabeça e pescoço em crianças. Entre essas anomalias, estão os cistos de arcos branquiais (BCC), que surgem devido a uma incorreta obliteração das fendas branquiais, ainda no período embrionário. Os BCC podem ser assintomáticos, apenas percebidos incidentalmente, e não se manifestar até a idade adulta. Resultados: Anomalias do segundo arco branquial devem ser consideradas como um dos possíveis diagnósticos diferenciais de massas cervicais, especialmente as que se manifestam como um abaulamento em região lateral do pescoço. Os BCC são formações de revestimento epitelial, sem aberturas externas. Após seu diagnóstico, o tratamento é cirúrgico, usualmente por meio de uma incisão cervical transversa e cuidadosa dissecação das estruturas, com o objetivo de extirpar toda a lesão. Conclusão: O método descrito, de excisão da lesão, por meio de incisão transversa em região cervical, dissecção tecidual por planos e ressecção de massa cística, é uma opção para o tratamento dessa deformidade, com adequado resultado estético e boa reprodutibilidade.
Introduction: The branchial arches are the embryological precursors of the face, neck, and pharynx. Branchial arch anomalies are the second most common congenital head and neck lesions in children. Among these anomalies are branchial arch cysts (BCC), which arise due to incorrect obliteration of the branchial slits, still in the embryonic period. BCCs may be asymptomatic, only noticed incidentally, and not manifest until adulthood. Results: Anomalies of the second branchial arch should be considered as one of the possible differential diagnoses of neck masses, especially those that manifest as a bulge in the lateral region of the neck. BCCs are epithelial lining formations without external openings. After diagnosis, treatment is surgical, usually through a transverse cervical incision and careful dissection of the structures, with the aim of extirpating the entire lesion. Conclusion: The method described of excision of the lesion through a transverse incision in the cervical region, tissue dissection in planes, and resection of the cystic mass is an option for the treatment of this deformity, with adequate aesthetic results and good reproducibility.
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La aspergilosis es una infección fúngica causada por el microorganismo Aspergillus spp. Las manifestaciones clínicas dependen del estado inmunológico del paciente y de las alteraciones estructurales del parénquima pulmonar. Pese a su baja incidencia, siempre se debe considerar como diagnóstico diferencial en el contexto de pacientes con enfermedades pulmonares de base. Se presenta un caso de hombre de 66 años, agricultor, con antecedente de tuberculosis pulmonar y enfermedad pulmonar obstructiva crónica, quien consultó por cuadro de 5 meses de disnea progresiva, fiebre, tos, hemoptisis y pérdida de peso. Los hallazgos imagenológicos fueron sugestivos de tuberculosis pulmonar asociado a aspergiloma, lo que fue confirmado por tinción de hidróxido de potasio (KOH) y cultivo de hongos positivo para Aspergillus fumigatus. El Gene Xpert fue positivo para Mycobacterium tuberculosis demostrando coinfección activa.
Aspergillosis is a fungal infection caused by the microorganism Aspergillus spp. Clinical manifestations depend on the patient's immune status and structural alterations of the lung parenchyma. Despite its low incidence, it should always be considered as a differential diagnosis in the context of patients with underlying lung diseases. We present the case of a 66-year-old male farmer, with a history of pulmonary tuberculosis and chronic obstructive pulmonary disease, who presented with progressive dyspnea months, fever, cough, hemoptysis and weight loss for 5 months. Imaging findings were suggestive of aspergiloma- associated pulmonary tuberculosis, which was confirmed by potassium hydroxide (KOH) staining and positive fungal culture for Aspergillus fumigatus. Gene Xpert was positive for Mycobacterium tuberculosis showing active co-infection.
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Humanos , Masculino , Idoso , Tuberculose Pulmonar/complicações , Tuberculose Pulmonar/diagnóstico , Aspergilose Pulmonar/complicações , Aspergilose Pulmonar/diagnóstico , Aspergillus fumigatus/isolamento & purificação , Tuberculose Pulmonar/microbiologia , Doença Crônica , Doença Pulmonar Obstrutiva Crônica , Diagnóstico Diferencial , Aspergilose Pulmonar/microbiologia , Coinfecção , Mycobacterium tuberculosis/isolamento & purificaçãoRESUMO
El diagnóstico es la piedra angular de la medicina individual, por tanto, dominarlo y conocerlo es esencial para todo médico al indagar en el estado de salud y patológico de los pacientes. Los profesionales de la salud deben dedicar todos sus esfuerzos a su realización, siempre que disponga de los elementos y medios necesarios, tanto teóricos como prácticos, para la correcta utilización del método clínico, elemento esencial del diagnóstico diferencial. En este artículo se abordan los aspectos más relevantes que intervienen en la realización del diagnóstico de los pacientes; se enfatiza en los pasos necesarios para efectuar un verdadero diagnóstico diferencial que posibilite la decantación de las posibilidades etiológicas del cuadro clínico del enfermo. A través de la correcta aplicación del método clínico es posible la aproximación al diagnóstico clínico definitivo del paciente.
Diagnosis is the cornerstone of individual medicine, therefore, mastering it and knowing it is essential for every doctor when inquiring into the health and pathological status of patients. Health professionals must dedicate all their efforts to its realization as long as they have the necessary elements and means, both theoretical and practical, for the correct use of the clinical method, which is an essential element of differential diagnosis. This article addresses the most relevant aspects involved in carrying out patient's diagnosis; emphasis is placed on the necessary steps to carry out a true differential diagnosis that makes it possible to decant the etiological possibilities of the patient's clinical manifestations. It is possible to approach the definitive clinical diagnosis of the patient through the correct application of the clinical method.
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Diagnóstico DiferencialRESUMO
O objetivo deste trabalho foi elencar quais são as principais lesões periapicais que não têm origem a partir da necrose pulpar. Para tanto, realizou-se uma revisão integrativa da literatura, com busca nas bases de dados Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS), Medical Literature Analysis and Retrievel System Online (MEDLINE) e Bibliografia Brasileira de Odontologia (BBO). Os descritores utilizados foram "doenças periapicais" e "diagnóstico diferencial", combinados com o operador booleano "AND". Foram encontrados 42 artigos que responderam aos critérios de inclusão e exclusão. A análise dos estudos incluídos mostrou que as principais lesões periapicais de origem não endodôntica são o queratocisto odontogênico e o ameloblastoma. Embora a prevalência de lesões periapicais não endodônticas seja baixa, é importante estar atento aos possíveis diagnósticos diferenciais, visto que as lesões que mais apareceram na literatura se tratam de patologias localmente agressivas e potencialmente mutiladoras. Ademais, a conduta do profissional que se depara com qualquer tipo de lesão periapical que apresente comportamento fora dos padrões de normalidade deve ser a realização de biópsia e análise histopatológica.
The aim of this study was to list the main periapical lesions that do not originate from pulpal necrosis. An integrative literature review was carried out, with a search in the Latin American and Caribbean Literature in Health Sciences (LILACS), Medical Literature Analysis and Retrievel System Online (MEDLINE) and Bibliografia Brasileira de Odontologia (BBO) databases. The keywords used were "periapical diseases" and "differential diagnosis", combined with the boolean operator "AND". 42 articles were found that met the inclusion and exclusion criteria. The analysis of the included studies showed that the main periapical lesions of non-endodontic origin are the odontogenic keratocyst and the ameloblastoma. Although the prevalence of non-endodontic periapical lesions is low, it is important to be aware of possible differential diagnoses, since the lesions that most appeared in the literature are locally aggressive and potentially mutilating pathologies. In addition, the conduct of the professional who is faced with any type of periapical lesion that presents behavior outside the normal range should be to perform a biopsy and histopathological analysis.
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Gastrointestinal submucosal lesions represent a diagnostic challenge, including benign or malignant lesions, so they are identified more accurately by histopathological study accompanied by immunohistochemistry. This is a case of a 21-year-old man with a bleeding submucosal lesion in the cecum. The patient underwent a right colectomy. Microscopic finding was compatible with Vanek's tumor.
Lesiones submucosas gastrointestinales representan un reto diagnóstico, incluyen lesiones benignas o malignas, que se identifican con mayor exactitud con estudios histopatológicos, incluyendo inmunohistoquímica. Se reporta el caso de un paciente varón de 21 años con lesión submucosa hemorrágica localizada en el ciego, por lo que se realiza colectomía. Hallazgos microscópicos son compatibles con Tumor de Vanek.
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Acute erythroid leukemia (AEL) is an exceedingly uncommon but distinct hematological malignancy that shows neoplastic proliferation of erythroid precursors with maturation arrest and no significant myeloblasts. We describe an autopsy case of this rare entity in a 62-year-old man with co-morbidities. He underwent a bone marrow (BM) examination for pancytopenia during the first outpatient department visit, which revealed an increased number of erythroid precursors with dysmegakaryopoiesis suggesting the possibility of Myelodysplastic syndromes (MDS). Thereafter, his cytopenia got worsened, warranting blood and platelet transfusions. Four weeks later on the second BM examination, AEL was diagnosed based on morphology and immunophenotyping. Targeted resequencing for myeloid mutations revealed TP53 and DNMT3A mutations. He was initially managed along febrile neutropenia with the stepwise escalation of antibiotics. He developed hypoxia attributed to anemic heart failure. Subsequently, he had hypotension and respiratory fatigue pre-terminally and succumbed to his Illness. A complete autopsy showed infiltration of various organs by AEL and leukostasis. Besides, there was extramedullary hematopoiesis, arterionephrosclerosis, diabetic nephropathy (ISN-RPS class II), mixed dust pneumoconiosis, and pulmonary arteriopathy. The histomorphology of AEL was challenging, and the differential diagnoses were many. Thus, this case highlights the autopsy pathology of AEL, an uncommon entity with a strict definition, and its relevant differentials.
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Abstract Objective: Evaluate the presence of alternative diagnoses in patients presenting with Acute Febrile Syndrome (AFS) and a negative Dengue IgM test. Methods: A retrospective descriptive study of the clinical records of patients who presented to the emergency department of ESE Hospital Universitario San Jorge from Pereira, Colombia with Dengue-like Acute Febrile Syndrome between January 2014 and December 2017. Results: 561 patients attending to the emergency department of a third level care and referral center in Pereira, Colombia with a Dengue-like Acute Febrile Syndrome. One hundred thirty three (23.7%) patients were included in the analysis. The three most common alternative diagnoses were leptospirosis (7.5%), malaria (3.8%) and bacterial bloodstream infection (2.3%). The main AFS presentations were hemorrhagic (34.6%), exanthematic (21.1%) and undifferentiated (21.1%). A statistically significant proportion were from rural origin and coursed with anemia, leukocytosis, hyperbilirrubinemia, icterohemorrhagic and icteric AFS. Acute kidney injury with serum creatinine >2 mg/dl and blood urea nitrogen >25 mg/dl were associated with the finding of an alternative diagnosis. Conclusions: The low rate of definitive diagnosis, the low request of tests to exclude Malaria, and the significant proportion of Dengue IgM tests requested within the first 4 days of fever, suggests the need to evaluate clinical practice. Training the Emergency Department personnel in the recognition of Acute Febrile Syndrome, as well as the development of prospective investigations, could lead to improvement in the quality of attention, the outcomes, and higher rates of diagnosis.
Resumen Objetivo: evaluar la presencia de diagnósticos alternativos en pacientes con Síndrome Febril Agudo y prueba IgM negativa para Dengue. Métodos: estudio descriptivo retrospectivo de las historias clínicas de los pacientes que se presentaron al servicio de urgencias de la ESE Hospital Universitario San Jorge de Pereira con Síndrome Febril Agudo similar al Dengue entre enero de 2014 y diciembre de 2017. Resultados: 561 pacientes acudieron al servicio de urgencias con un Síndrome Febril Agudo similar a Dengue. 133 (23,7 %) pacientes fueron analizados. Las tres causas más comunes fueron Leptospirosis (7,5 %), Malaria (3,8 %) y Bacteremia (2,3 %). Las tres presentaciones clínicas más frecuentes de Síndrome Febril Agudo fueron: hemorrágico (34,6 %), exantemático (21,1 %) e indiferenciado (21,1 %). Una proporción significativa fue de procedencia rural y cursó con anemia, leucocitosis, hiperbilirrubinemia y síndromes icterohemorrágico e ictérico. La presencia de falla renal aguda con creatinina mayor a 2 mg/dl y nitrógeno ureico en sangre mayor a 25 mg/dl se asociaron con el hallazgo de un diagnóstico alternativo. Conclusiones: la baja tasa de diagnóstico definitivo, la baja solicitud de pruebas para excluir malaria, y la gran proporción de pacientes con solicitud de prueba para Dengue dentro de los primeros cinco días de fiebre demuestra la necesidad de revisar la práctica clínica. El entrenamiento del personal del servicio de urgencias en el reconocimiento del Síndrome Febril Agudo, al igual que la realización de investigaciones prospectivas pueden llevar a mejorar la calidad de atención, los desenlaces y mayores tasas de diagnóstico.
Assuntos
Humanos , Masculino , Criança , Cardiopatia Reumática/complicações , Endocardite Bacteriana/complicações , Insuficiência da Valva Mitral/etiologia , Insuficiência da Valva Mitral/diagnóstico por imagem , Pediatria , Ecocardiografia/métodos , Radiografia Torácica/métodos , Cardiomegalia/complicações , Diagnóstico Diferencial , Eletrocardiografia/métodos , Valvas Cardíacas/anormalidades , Valva Mitral/cirurgiaRESUMO
La intususcepción intestinal en pacientes adultos es una entidad infrecuente, la cual corresponde alrededor del 5% de todas las causas de obstrucción intestinal. Su diagnóstico no es fácil, dado lo poco especifico de los síntomas de los pacientes que la presentan; este se sustenta principalmente en los hallazgos de los estudios de imagen. El manejo quirúrgico es la piedra angular del tratamiento de esta patología, y su éxito va a estar determinado por el diagnóstico oportuno y la experticia del cirujano tratante. En este artículo se presenta el caso de un paciente masculino de 62 años, que consulta por cuadro de dolor abdominal inespecífico y síntomas urinarios irritativos, el cual por persistencia del dolor abdominal pese al manejo medico es llevado a cirugía, donde se diagnostica de manera intraoperatoria una invaginación intestinal a nivel de íleon distal.
Intestinal intussusception in adult patients is a rare entity, which corresponds to about 5% of all causes of intestinal obstruction, its diagnosis is not easy given the lack of specific symptoms of patients who present it. This is mainly based on the findings of imaging studies, surgical management is the cornerstone of treatment of this pathology and its success will be determined by timely diagnosis as well as by the expertise of the treating surgeon. This article presents the case of a 62-year-old male patient who consults due to nonspecific abdominal pain and irritative urinary symptoms, who due to persistence of abdominal pain despite medical management is taken to surgery where it is diagnosed intraoperatively. an intestinal intussusception at the level of the distal ileum.
RESUMO
ABSTRACT Acute erythroid leukemia (AEL) is an exceedingly uncommon but distinct hematological malignancy that shows neoplastic proliferation of erythroid precursors with maturation arrest and no significant myeloblasts. We describe an autopsy case of this rare entity in a 62-year-old man with co-morbidities. He underwent a bone marrow (BM) examination for pancytopenia during the first outpatient department visit, which revealed an increased number of erythroid precursors with dysmegakaryopoiesis suggesting the possibility of Myelodysplastic syndromes (MDS). Thereafter, his cytopenia got worsened, warranting blood and platelet transfusions. Four weeks later on the second BM examination, AEL was diagnosed based on morphology and immunophenotyping. Targeted resequencing for myeloid mutations revealed TP53 and DNMT3A mutations. He was initially managed along febrile neutropenia with the stepwise escalation of antibiotics. He developed hypoxia attributed to anemic heart failure. Subsequently, he had hypotension and respiratory fatigue pre-terminally and succumbed to his Illness. A complete autopsy showed infiltration of various organs by AEL and leukostasis. Besides, there was extramedullary hematopoiesis, arterionephrosclerosis, diabetic nephropathy (ISN-RPS class II), mixed dust pneumoconiosis, and pulmonary arteriopathy. The histomorphology of AEL was challenging, and the differential diagnoses were many. Thus, this case highlights the autopsy pathology of AEL, an uncommon entity with a strict definition, and its relevant differentials.