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1.
Bol Med Hosp Infant Mex ; 81(5): 272-279, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39378406

RESUMO

INTRODUCTION: Epstein-Barr virus (EBV) infection, with a global prevalence exceeding 95%, typically manifests in children as infectious mononucleosis. However, clinical practice frequently encounters diverse atypical presentations characterized by multisystem involvement, often resulting in an unfavorable clinical course. Our objective is to describe the clinical manifestations and results of EBV infection in a tertiary pediatric hospital in Mexico. METHOD: An observational, transversal, retrospective, and descriptive study that included a systematic review of medical records (2012-2022) of patients under 18 years of age with detectable EBV particles in peripheral blood. RESULTS: The study included 26 patients with a median age of 5 years and a male predominance of 53.8%. Predominant symptoms were fever (85%) and lymphadenopathy (35%). Sixty-five percent had severe and atypical manifestations, including pneumonia and hepatic, hematologic-oncologic, and autoimmune diseases. Anemia, thrombocytopenia and leukopenia were common, with lymphocytosis in 19% of cases. The median EBV viral load was 2816 copies/mL (range: 555-355,500 copies/mL). Four deaths related to EBV infection were reported. Viral load in these cases also varied widely from 594 to 121,000 copies/mL. Supportive care was administered to 85% of patients, while others received antiviral treatment, steroids, and rituximab. CONCLUSION: Atypical manifestations were common, especially in children with multisystem involvement. EBV should be considered as a potential contributor to a diverse spectrum of clinical presentations, emphasizing the need for comprehensive evaluation and awareness in clinical diagnosis.


INTRODUCCIÓN: La infección por el virus de Epstein-Barr (VEB) tiene una prevalencia mundial superior al 95%. Se considera que en los niños se manifiesta principalmente como mononucleosis infecciosa; sin embargo, en la práctica clínica, a menudo encontramos numerosas manifestaciones atípicas con compromiso multisistémico que llevan a un curso desfavorable. Nuestro objetivo es describir las manifestaciones clínicas y los resultados de la infección por VEB en un hospital pediátrico de tercer nivel en México. MÉTODO: Estudio observacional, transversal, retrospectivo y descriptivo, en el cual se revisaron sistemáticamente los expedientes médicos de pacientes menores de 18 años con una detección positiva de partículas de VEB en sangre periférica en el periodo 2012-2022. RESULTADOS: Se incluyeron 26 pacientes con una mediana de edad de 5 años y predominio de varones (53.8%). El 65% presentaron manifestaciones graves y atípicas, incluyendo enfermedades respiratorias, hepáticas, hematooncológicas y autoinmunitarias. Los síntomas más frecuentes fueron fiebre (85%) y linfadenopatía (35%). El 54% presentaron manifestaciones atípicas, incluyendo linfohistiocitosis hemofagocítica, neumonía y neoplasia. La anemia, la trombocitopenia y la leucocitopenia fueron comunes, mientras que el 19% presentaron linfocitosis. La media de la carga viral fue de 2816 copias/ml (555-355,500). Se informaron cuatro muertes atribuidas a la infección por VEB, con valores de carga viral de 594 a 121,000 copias/ml. El 85% de los pacientes recibieron solo tratamiento sintomático, mientras que otros recibieron antivirales, esteroides y rituximab. CONCLUSIÓN: Las manifestaciones atípicas se observaron comúnmente, en especial en niños con compromiso multisistémico. El VEB debe considerarse como un potencial factor contribuyente en el diagnóstico de una amplia gama de manifestaciones clínicas.


Assuntos
Infecções por Vírus Epstein-Barr , Centros de Atenção Terciária , Humanos , México/epidemiologia , Masculino , Feminino , Infecções por Vírus Epstein-Barr/epidemiologia , Infecções por Vírus Epstein-Barr/diagnóstico , Criança , Estudos Retrospectivos , Pré-Escolar , Adolescente , Lactente , Estudos Transversais , Carga Viral , Hospitalização/estatística & dados numéricos , Herpesvirus Humano 4/isolamento & purificação , Herpesvirus Humano 4/genética , Febre/virologia , Linfadenopatia/virologia
2.
Hematol Oncol Stem Cell Ther ; 17(3): 159-167, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39412751

RESUMO

H syndrome is a rare autosomal recessive genodermatosis that falls under the histiocytosis-lymphadenopathy plus syndrome. The term "H syndrome" includes manifestations such as hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally hyperglycemia. The syndrome is associated with mutations in the SLC29A3 gene, which encodes the human equilibrative transporter 3 present in endosomes, lysosomes, and mitochondria. The generalized and ubiquitous presence of affected lysosomes and mitochondria contributes to the systemic and phenotypically heterogeneous manifestations of the syndrome. H syndrome manifestations are cutaneous, systemic, and organ-specific. The pathognomonic signs are hypertrichosis and hyperpigmentation in the inner thighs and shins. However, not all patients present with these symptoms. H syndrome management involves a multidisciplinary approach to address specific symptoms and complications. The prognosis of H syndrome depends on several factors, including the extent and severity of clinical manifestations, the presence of complications, and timely diagnosis and management. Further studies are needed to explore the association between prognosis and the different mutations encountered in H syndrome.


Assuntos
Histiocitose , Proteínas de Transporte de Nucleosídeos , Humanos , Histiocitose/patologia , Histiocitose/metabolismo , Histiocitose/diagnóstico , Histiocitose/genética , Proteínas de Transporte de Nucleosídeos/genética , Proteínas de Transporte de Nucleosídeos/metabolismo , Mutação , Linfadenopatia/patologia , Linfadenopatia/metabolismo , Hipertricose/genética , Hipertricose/patologia
3.
World J Gastroenterol ; 30(33): 3803-3809, 2024 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-39351425

RESUMO

This editorial elaborates on the current and future applications of linear endoscopic ultrasound (EUS), a substantial diagnostic and therapeutic modality for various anatomical regions. The scope of endosonographic assessment is broad and, among other factors, allows for the evaluation of the mediastinal anatomy and related pathologies, such as mediastinal lymphadenopathy and the staging of central malignant lung lesions. Moreover, EUS assessment has proven more accurate in detecting small lesions missed by standard imaging examinations, such as computed tomography or magnetic resonance imaging. We focus on its current uses in the mediastinum, including lung and esophageal cancer staging, as well as evaluating mediastinal lymphadenopathy and submucosal lesions. The editorial also explores future perspectives of EUS in mediastinal examination, including ultrasound-guided therapies, artificial intelligence integration, advancements in mediastinal modalities, and improved diagnostic approaches for various mediastinal lesions.


Assuntos
Endossonografia , Mediastino , Humanos , Endossonografia/métodos , Endossonografia/tendências , Mediastino/diagnóstico por imagem , Estadiamento de Neoplasias , Neoplasias do Mediastino/diagnóstico por imagem , Neoplasias do Mediastino/patologia , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/patologia , Doenças do Mediastino/diagnóstico por imagem , Neoplasias Esofágicas/diagnóstico por imagem , Neoplasias Esofágicas/patologia , Linfadenopatia/diagnóstico por imagem , Linfadenopatia/patologia , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico/métodos , Tomografia Computadorizada por Raios X/métodos , Tomografia Computadorizada por Raios X/tendências
4.
J Gastrointest Cancer ; 56(1): 7, 2024 Oct 19.
Artigo em Inglês | MEDLINE | ID: mdl-39425807

RESUMO

INTRODUCTION: Retroperitoneal lymphadenopathy is considered a metastatic disease in GBC; however, some surgical series of radical surgery with enlarged RPLN who underwent RPLN dissection have shown results marginally inferior to those without enlarged RPLN. Radiological RPLN comprises a major proportion of advanced non-metastatic GBC. There is dilemma in the intent of treatment to be offered in such cases. We are reporting our series of outcome of GBC with RPLN treated with first-line CT followed by consolidation CTRT. MATERIALS AND METHODS: Non-metastatic locally advanced GBC with good performance status (KPS ≥ 80) were initiated on first-line CT (cisplatin-gemcitabine), and thereafter, responders were evaluated by CECT-angiography and PET-CT scan for resectability. If found unresectable, they were offered consolidation CTRT to a dose of 45 Gy by conventional fractionation (3D-CRT technique) along with concurrent capecitabine at 1250 mg/m2 to GBC and regional lymphatics including RPLN. Thereafter, boost dose of 9 Gy/5# was given to GBC only. Response assessment was done using CECT abdomen by RECIST criteria v 1.1. Outcomes (overall survival) of the two groups (RPLN vs non-RPLN) were computed with Kaplan-Meier survival curves and chi-square tests using SPSS v 20. RESULTS: Among 189 patients of advanced non-metastatic GBC recruited from 2011 to 2022, 80 had RPLN. The demographic features of both groups were comparable. Overall, 68% of the patients were women, 30% underwent upfront stenting for obstructive jaundice, and 90% had T3 and T4 disease. Only 10% had undergone upfront laparoscopic staging and had pathologically proven RPLN. Forty percent of the patients received four cycles of CT only and 50% of the patients received six cycles or more and 33% received CTRT. By RECIST criteria, 10% vs 16% achieved complete response (CR), 39% vs 41% achieved partial response (PR), 16% vs 15% achieved stable disease (SD), 2.7% vs 6% had disease progression (PD), and 14.5% vs 3.7% were non-evaluable in non-RPLN group vs RPLN group, respectively. 12% vs 6% could undergo radical surgery in non-RPLN group vs RPLN group (p = 0.03). The median OS was 9 months (95% CI 7.6-10.3 months) vs 10 months (95% CI 8-9.8 months) (p = NS) in non-RPLN group vs RPLN group, respectively. In those who received CT only, the median OS was 7 months vs 8 months, while in those who received CT followed by CTRT, the median OS was 14 months vs 13 months (p = 0.65) in non-RPLN group vs RPLN group, respectively. CONCLUSIONS: Based on this analysis, we conclude that RPLN constitutes a major proportion of advanced non-metastatic GBC and has outcomes similar to those without RPLN if treated with radical intent. RPLN should not be considered a metastatic disease and should be treated with radical intent.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica , Neoplasias da Vesícula Biliar , Linfadenopatia , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Linfadenopatia/patologia , Linfadenopatia/terapia , Neoplasias da Vesícula Biliar/terapia , Neoplasias da Vesícula Biliar/patologia , Neoplasias da Vesícula Biliar/mortalidade , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Adulto , Cisplatino/administração & dosagem , Cisplatino/uso terapêutico , Quimiorradioterapia/métodos , Quimiorradioterapia/mortalidade , Espaço Retroperitoneal/patologia , Gencitabina , Resultado do Tratamento , Estudos Retrospectivos , Metástase Linfática
5.
Medicina (Kaunas) ; 60(9)2024 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-39336466

RESUMO

Background and Objectives: Parinaud oculoglandular syndrome (POS) is unilateral granulomatous follicular conjunctivitis with ipsilateral afferent lymphadenopathy, primarily caused by cat-scratch disease, tularemia, and sporotrichosis. We report a case of POS in which Bartonella DNA was detected using polymerase chain reaction (PCR) in corneal and conjunctival specimens. Methods: A 29-year-old man, who started keeping a stray cat two months prior, became aware of right preauricular lymphadenopathy and right ocular conjunctival hyperemia one month prior. Subsequently, he developed a fever of approximately 37.9 °C, with a purulent ocular discharge appearing 1 week before being referred to our department for a detailed ophthalmological examination. The patient's right eye showed hyperemia and edema in the bulbar conjunctiva, along with palpebral conjunctival hyperemia, follicles, and white ulcers. Two weeks later, his serum IgM titer for Bartonella henselae was 1:20, and Bartonella DNA was detected by PCR in the corneal and conjunctival specimens. Based on these findings, the patient was diagnosed with POS caused by cat-scratch disease (CSD). Oral doxycycline, rifampicin, topical gatifloxacin, betamethasone phosphate, and erythromycin eye ointments were prescribed. Results: After 2 weeks of oral treatment and 2 months of eye drop treatment, the deterioration of the cornea and conjunctiva improved when the patient recovered good visual acuity. Conclusions: PCR assays of corneal and conjunctival specimens are useful for the diagnosis of CSD presenting with POS. These results suggested that Bartonella may be directly involved in the ocular surface pathogenesis of POS.


Assuntos
Túnica Conjuntiva , Córnea , Reação em Cadeia da Polimerase , Humanos , Masculino , Adulto , Reação em Cadeia da Polimerase/métodos , Túnica Conjuntiva/microbiologia , Córnea/microbiologia , DNA Bacteriano/análise , Doença da Arranhadura de Gato/diagnóstico , Doença da Arranhadura de Gato/tratamento farmacológico , Antibacterianos/uso terapêutico , Bartonella henselae/isolamento & purificação , Bartonella henselae/genética , Síndrome , Linfadenopatia/microbiologia
7.
Ned Tijdschr Geneeskd ; 1682024 09 25.
Artigo em Holandês | MEDLINE | ID: mdl-39324435

RESUMO

A 39-year old man presented in our emergency room with fever, lymphadenopathy in his right groin and a red papule with a dark center. He was treated with doxycycline and recovered well. Serology showed Rickettsia africae with seroconversion after a few weeks.


Assuntos
Antibacterianos , Doxiciclina , Febre , Infecções por Rickettsia , Rickettsia , Humanos , Masculino , Adulto , Doxiciclina/uso terapêutico , Rickettsia/isolamento & purificação , Antibacterianos/uso terapêutico , Febre/etiologia , Infecções por Rickettsia/diagnóstico , Infecções por Rickettsia/tratamento farmacológico , Infecções por Rickettsia/complicações , Linfadenopatia/etiologia
9.
Ther Adv Respir Dis ; 18: 17534666241282217, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39340275

RESUMO

BACKGROUND: Patients with mediastinal lymph node enlargement (MLNE) are diagnosed depending on lymph node biopsy. Whereas, how to obtain larger tissue masses from mediastinal lymph nodes and improve the diagnostic yield of the disease remains to be investigated. OBJECTIVES: Aiming to assess the diagnostic value of endobronchial ultrasound-guided intranodal forceps biopsy via transbronchial laser photoablation (EBUS-IFB-TLP) in patients with MLNE. DESIGN: A prospective, self-controlled study. METHODS: This study was conducted on 67 MLNE patients requiring a lymph node biopsy for diagnosis at the Henan Provincial People's Hospital and the Fuwai Central China Cardiovascular Hospital in China, from January 2020 to December 2022. Each patient underwent endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA group) and EBUS-IFB-TLP (EBUS-IFB-TLP group) on the same mediastinal lymph node for biopsies. The operation time, diagnostic efficiency, and complication rates of the two biopsy methods were compared. RESULTS: The number of diagnosed patients in the EBUS-IFB-TLP and the EBUS-TBNA groups was 65 (97.0%) and 57 (85.1%), respectively (p = 0.021). In the EBUS-IFB-TLP group, 28 cases (96.6%) were diagnosed with lung cancer and were classified into different epithelial types. In the EBUS-TBNA group, there were 27 cases (93.1%) diagnosed with lung cancer, of which 26 (89.7%) were classified into different epithelial types. There were 37 (97.4%) and 30 (78.9%) non-lung cancer patients diagnosed in the EBUS-IFB-TLP and EBUS-TBNA groups, respectively (p = 0.039), while 27 cases (96.4%) of sarcoidosis in the EBUS-IFB-TLP group and 20 cases (71.4%) of sarcoidosis in the EBUS-TBNA group were diagnosed (p = 0.016). The percentages of intraoperative mild to moderate bleeding complications were 23.9% (16/67) and 14.9% (10/67) in the EBUS-IFB-TLP and in the EBUS-TBNA groups, respectively (p = 0.109). CONCLUSION: This study demonstrated that EBUS-IFB-TLP could be a feasible and effective method in the diagnosis of patients with MLNE, presenting an analogous safety profile compared with EBUS-TBNA. Further studies are needed to verify the diagnostic performance of EBUS-IFB-TLP for MLNE.


A new way of obtaining a larger biopsy sample in patients with enlarged lymph nodes in the chestWhy was the study done?Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) allows doctors to look at a patient's lungs using a tiny camera (called a bronchoscope). A needle is found at the tip of the bronchoscope and is used to take samples (biopsies) from the lymph nodes in the chest. Lymph nodes are small structures that help filter foreign substances in the body, for example cancer cells. The enlarged (big) lymph nodes are often caused by cancer. Researchers are still trying to work out how to obtain large samples from the lymph nodes which could lead to a better diagnosis.What did the researchers do?We explored a new method called endobronchial ultrasound-guided intranodal forceps biopsy based on transbronchial laser photoablation (EBUS-IFB-TLP) to be used in diagnosing patients who have enlarged lymph nodes. EBUS-IFB-TLP is performed under the guidance of endndobronchial ultrasound, the laser fiber is inserted through the bronchoscope to act on the airway wall, creating a hole in the target lymph node, a biopsy forcep was inserted into the lymph node through the biopsy hole. We used both methods on each patient in this study and compared them.What did the researchers find?More patients were diagnosed with enlarged lymph nodes when using the EBUS-IFB-TLP method, but there were milder to moderate bleeding complications.What do the findings mean?This study shows that EBUS-IFB-TLP could be use in the diagnosis of enlarged lymph nodes.


Assuntos
Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico , Linfonodos , Linfadenopatia , Mediastino , Humanos , Masculino , Pessoa de Meia-Idade , Feminino , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico/efeitos adversos , Estudos Prospectivos , Linfadenopatia/patologia , Linfadenopatia/diagnóstico , Linfonodos/patologia , Adulto , Idoso , China , Mediastino/patologia , Broncoscopia/métodos , Valor Preditivo dos Testes , Doenças do Mediastino/patologia , Doenças do Mediastino/diagnóstico
10.
Respirar (Ciudad Autón. B. Aires) ; 16(3): 317-322, sept.2024.
Artigo em Espanhol | LILACS, UNISALUD, BINACIS | ID: biblio-1570692

RESUMO

Introducción: El sarcoma de Ewing es un tumor maligno de alto grado con localización principalmente ósea; se han reportado aproximadamente 12% con presentación extra-esquelética. Actualmente, existen alrededor de 20 casos descritos en la literatura con origen mediastinal y 10 casos con origen pulmonar. Caso clínico: Se presenta el caso de una mujer de 25 años con un mes de disnea y dolor torácico, con el hallazgo de derrame pleural masivo y tumoración mediastinal en hemitórax derecho. Se le realiza toracotomía anterior bilateral con esternotomía transversa de Clamshell, con resección parcial que demuestra, por patología, sarcoma monomórfico de alto grado e inmunohistoquímica concluyente de sarcoma de Ewing. Conclusión: Este caso es una entidad rara y conlleva un reto diagnóstico para el clínico; sin embargo, debe sospecharse considerando la presentación clínica y radiológica del paciente, buscando incrementar la tasa de supervivencia mediante el diagnóstico y tratamiento oportuno.


Introduction: Ewing's sarcoma is a high-grade malignant tumor with mainly bony lo-calization; approximately 12% have been reported with extraskeletal presentation. Currently, there are about 20 cases described in the literature with mediastinal origin and 10 pulmonary cases. Case Report: We present the case of a 25-year-old woman with one month of dysp-nea and chest pain, with massive pleural effusion and mediastinal tumor in the right hemithorax who underwent bilateral anterior thoracotomy with Clamshell transverse sternotomy, with partial resection demonstrating, by pathology, high-grade monomorphic sarcoma and conclusive immunohistochemistry of Ewing's sarcoma. Conclusion: This case is a rare entity and involves a diagnostic challenge for the clinician; however, it should be suspected considering the clinical and radiological presentation of the patient, seeking to increase the survival rate through timely diagnosis and treatment.


Assuntos
Humanos , Feminino , Adulto , Sarcoma de Ewing/diagnóstico , Neoplasias Ósseas , Neoplasias do Mediastino/cirurgia , Derrame Pleural , Biópsia , Dor no Peito , Síndrome da Veia Cava Superior , Diagnóstico por Imagem , Toracotomia , Biomarcadores Tumorais , Agroquímicos , Dispneia , Esternotomia , Linfadenopatia
11.
Respir Med ; 233: 107765, 2024 11.
Artigo em Inglês | MEDLINE | ID: mdl-39181276

RESUMO

Mediastinal lymphadenopathy has a broad differential diagnosis which includes lymphoma. The current preferred biopsy technique for mediastinal lymph nodes is transbronchial needle aspiration which has mixed results in terms of sensitivity, specificity and diagnostic yields; there are also limitations with subtyping lymphomas with needle aspiration alone which can be a barrier to determine management strategies. Invasive mediastinal lymph node sampling such was with mediastinoscopy provides higher yields and preserved lymph node architecture for both diagnosis and subtyping of lymphoma but carries a higher risk of morbidity and complications. Novel techniques that may increase the diagnostic yield of bronchoscopy in the diagnosis of lymphoma are core biopsy needles, intranodal forcep biopsy, and intranodal cryobiopsy. The evidence is limited due to a relatively small number of cases, so further research is needed to standardize best practices for the bronchoscopic diagnosis of lymphoma. Pleural effusions in lymphoma can be present in up to 30 % of cases with the majority being non-Hodgkins's lymphoma. The presence of exudative effusion in the setting of an existing or prior diagnosis of lymphoma should raise clinical suspicions. Other less common subtypes of lymphoma presenting as primary pleural effusions are explored as well.


Assuntos
Broncoscopia , Linfoma , Mediastinoscopia , Humanos , Linfoma/diagnóstico , Linfoma/patologia , Broncoscopia/métodos , Diagnóstico Diferencial , Mediastinoscopia/métodos , Linfonodos/patologia , Linfadenopatia/patologia , Linfadenopatia/diagnóstico , Mediastino/patologia , Derrame Pleural/patologia , Derrame Pleural/diagnóstico , Biópsia/métodos , Linfoma não Hodgkin/diagnóstico , Linfoma não Hodgkin/patologia
12.
Artigo em Inglês | MEDLINE | ID: mdl-39200672

RESUMO

BACKGROUND: This study aimed to evaluate the incidence of lymphadenopathies after COVID-19 vaccination and their impact on the clinical management of gynecologic oncology patients. METHODS: A retrospective observational study was conducted involving patients who underwent abdominopelvic or thoracoabdominopelvic CT scans during diagnosis or follow-up. Patients were classified into a vaccinated group (Vac group) and a non-vaccinated group (NoVac group). The radiological appearance of lymphadenopathies was categorized as low or high risk of malignancy, and management strategies were recorded as standard management or additional assessment. RESULTS: 75 patients were included, with 44 in the Vac group and 31 in the NoVac group. The incidence of lymphadenopathies was similar between the groups: 34.1% in the Vac group and 32.3% in the NoVac group (p = 0.868). High-risk lymphadenopathies were observed in 20.4% of the Vac group and 22.6% of the NoVac group, while low-risk lymphadenopathies were seen in 13.6% of the Vac group and 9.7% of the NoVac group (p = 0.691). Standard management was the most common approach, used in 80.0% of the Vac group and 100.0% of the NoVac group (p = 0.25). CONCLUSIONS: COVID-19 vaccine does not increase the incidence of lymphadenopathies in imaging tests of gynecological cancer patients.


Assuntos
Vacinas contra COVID-19 , COVID-19 , Neoplasias dos Genitais Femininos , Linfadenopatia , Humanos , Feminino , Estudos Retrospectivos , Pessoa de Meia-Idade , Linfadenopatia/etiologia , COVID-19/prevenção & controle , Idoso , Adulto , SARS-CoV-2/imunologia , Incidência , Tomografia Computadorizada por Raios X
13.
BMJ Case Rep ; 17(8)2024 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-39122375

RESUMO

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a rare disease first reported in 2020, most commonly seen in men aged 56-75 years old. Common clinical features include skin lesions (83.5%), fever (63.6%), relapsing chondritis (36.4%), venous thrombosis (34.7%) and lymph node enlargement (33.9%). The patient is a man in his 40s who presented with testicular and lower extremity pain, followed by a rash and bicytopenia. He was initiated on corticosteroids and sulfasalazine. He was found to have mediastinal lymphadenopathy and underwent an endobronchial ultrasound and transbronchial needle aspiration followed by a video-assisted thoracic surgery biopsy which were unrevealing. Eventually, an ubiquitin-like modifier activating enzyme (UBA-1) gene analysis was performed that was consistent with VEXAS syndrome. Patients with VEXAS syndrome usually present with a red or violaceous rash and dyspnoea. Laboratory abnormalities include anaemia, elevated mean corpuscular volume, thrombocytopenia and elevated inflammatory markers. Diagnosis is based on the genetic mutation and associated symptoms. The treatment includes steroids and Janus kinase (JAK) inhibitors, specifically ruxolitinib.


Assuntos
Linfadenopatia , Humanos , Masculino , Linfadenopatia/etiologia , Adulto , Enzimas Ativadoras de Ubiquitina/genética , Doenças do Mediastino/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Doenças Hereditárias Autoinflamatórias/diagnóstico , Doenças Hereditárias Autoinflamatórias/genética , Diagnóstico Diferencial , Síndrome , Nitrilas , Pirazóis , Pirimidinas
14.
Swiss Med Wkly ; 154: 3549, 2024 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-39154257

RESUMO

The term lymphadenopathy refers to an abnormality in size, consistency or morphological aspect of one or several lymph nodes. Although lymphadenopathies are commonly observed in everyday clinical practice, the difficulty of differentiating benign and malignant disease may delay therapeutic approaches. The present review aims to update diagnostic algorithms in different clinical situations based on the currently available literature. A literature review was performed to assess current knowledge of and to update the diagnostic approach. A short clinical vignette was used as an example of a typical clinical presentation. This case of metastatic lymphadenopathy with incomplete patient history demonstrates how misleading such lymphadenopathy may be, leading to a delayed diagnosis and even a fatal outcome. Any lymphadenopathy persisting for more than 2 weeks should be considered suspicious and deserves further investigation. Precise clinical examination, meticulous history-taking and a search for associated symptomatology are still cornerstones for diagnosing the origin of the condition. The next diagnostic step depends on the anatomical region and the specific patient's situation. Imaging starts with ultrasound, while computed tomography (CT) and magnetic resonance imaging (MRI) allow assessment of the surrounding structures. If the diagnosis remains uncertain, tissue sampling and histological analyses should be performed. Except for head and neck loco-regional lymphadenopathy, there are no methodical guidelines for persistent lymphadenopathy. The present review clarifies several confusing and complex situations. The accuracy of fine needle aspiration cytology could be increased by using core needle biopsy with immunocytologic and flow cytometric methods. Notably, except in the head and neck area, open biopsy remains the best option when lymphoma is suspected or when inconclusive results of previous fine needle aspiration cytology or core needle biopsy are obtained. The incidence of malignant lymphadenopathy varies with its location and the various diagnostic strategies. In metastatic lymphadenopathy of unknown primary origin, European Society for Medical Oncology (ESMO) guidelines and modern methods like next-generation sequencing (NGS) may help to manage such complex cases.


Assuntos
Linfadenopatia , Humanos , Linfadenopatia/patologia , Linfadenopatia/etiologia , Biópsia por Agulha Fina , Diagnóstico Diferencial , Linfonodos/patologia , Tomografia Computadorizada por Raios X , Adulto , Imageamento por Ressonância Magnética , Metástase Linfática , Algoritmos
15.
Surg Pathol Clin ; 17(3): 509-519, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39129145

RESUMO

Lymph node (LN) fine-needle aspiration cytology (FNAC) is a common diagnostic procedure for lymphadenopathies. Despite the qualities and potentialities of LN-FNAC, the number of possible pathologies and the variety of clinical contexts represent a challenge and require a continuous upgrading of the procedure according to the emerging clinical requests and new technologies. This study presents an overview of the current and future impact of LN-FNAC on the care of patients with lymphadenopathy.


Assuntos
Linfonodos , Linfadenopatia , Humanos , Biópsia por Agulha Fina/métodos , Biópsia por Agulha Fina/tendências , Linfonodos/patologia , Linfadenopatia/patologia , Linfadenopatia/diagnóstico , Metástase Linfática/patologia
17.
Trop Doct ; 54(4): 380-382, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39043038

RESUMO

Histoid leprosy is an uncommon variant of lepromatous leprosy. It poses a diagnostic challenge because of its distinctive clinical and histopathological features. It presents as smooth papules and nodules that rarely ulcerate. We present the case of a 22-year-old Nigerian man with a 2-year history of multiple, dome-shaped papules and nodules on the skin with necrotic centres. General examination showed right axillary lymphadenopathy, non-pitting oedema, foot ulcer, and glove and stocking sensation loss. Despite previous misdiagnoses, histopathological examination showed dermal expansion by histiocytes arranged in a storiform pattern. Slit skin smear yielded abundant bacilli. The patient was started on WHO multidrug treatment, resulting in the improvement of his lesions. This case emphasises the importance of increased awareness of this rare presentation of leprosy.


Assuntos
Hansenostáticos , Hanseníase Virchowiana , Humanos , Masculino , Adulto Jovem , Hanseníase Virchowiana/diagnóstico , Hanseníase Virchowiana/tratamento farmacológico , Hanseníase Virchowiana/patologia , Hansenostáticos/uso terapêutico , Hansenostáticos/administração & dosagem , Nigéria , Pele/patologia , Pele/microbiologia , Quimioterapia Combinada , Mycobacterium leprae/isolamento & purificação , Linfadenopatia/diagnóstico , Linfadenopatia/microbiologia , Linfadenopatia/patologia , Resultado do Tratamento
18.
Hinyokika Kiyo ; 70(6): 149-153, 2024 Jun.
Artigo em Japonês | MEDLINE | ID: mdl-38967026

RESUMO

A 74-year-old woman presented to our hospital with the main complaint of anorexia and weight loss for several months. Computed tomography (CT) revealed right urinary stone, hydronephrosis, multiple lymphadenopathy, and a mass in the right kidney. Considering these findings, she was suspected to have renal malignancy (kidney or renal pelvis cancer) with multiple lymph node metastases; therefore, nephrectomy was performed. Her pathological diagnosis was xanthogranulomatous pyelonephritis (XGPN). There was no postoperative renal function decline, and multiple lymphadenopathy also disappeared on CT 3 months after surgery. It was judged to be reactive swelling due to inflammation. XGPN is a pathological condition characterized by accumulation of mast cells and activated macrophages in the renal tissue; and, the renal tissue recognizes yellowish granulation growth because of repeating pyelonephritis due to urinary tract passing impairment. In some cases, it is difficult to differentiate XGPN from renal malignancy. Moreover, lymphadenopathy may be lymph node metastasis but may also present reactive enlargement due to the effect of inflammation, making it even more difficult to differentiate when accompanied by lymphadenopathy. We report this case in which it was difficult to differentiate XGPN from renal malignancy considering the scarcity of reports of XGPN accompanied by multiple lymphadenopathy.


Assuntos
Neoplasias Renais , Linfadenopatia , Pielonefrite Xantogranulomatosa , Humanos , Feminino , Idoso , Pielonefrite Xantogranulomatosa/diagnóstico por imagem , Pielonefrite Xantogranulomatosa/patologia , Neoplasias Renais/patologia , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/diagnóstico , Diagnóstico Diferencial , Linfadenopatia/diagnóstico por imagem , Linfadenopatia/patologia , Tomografia Computadorizada por Raios X , Nefrectomia
19.
Ann Surg Oncol ; 31(11): 7420-7428, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38980586

RESUMO

BACKGROUND: Internal mammary lymphadenopathy (IML) plays a role in breast cancer stage and prognosis. We aimed to evaluate method of IML detection, how IML impacts response to neoadjuvant chemotherapy (NAC), and oncologic outcomes. METHODS: We evaluated patients enrolled in the I-SPY-2 clinical trial from 2010 to 2022. We captured the radiographic method of IML detection (magnetic resonance imaging [MRI], positron emission tomography/computed tomography [PET/CT], or both) and compared patients with IML with those without. Rates of locoregional recurrence (LRR), distant recurrence (DR) and event-free survival (EFS) were compared by bivariate analysis. RESULTS: Of 2095 patients, 198 (9.5%) had IML reported on pretreatment imaging. The method of IML detection was 154 (77.8%) MRI only, 11 (5.6%) PET/CT only, and 33 (16.7%) both. Factors associated with IML were younger age (p = 0.001), larger tumors (p < 0.001), and higher tumor grade (p = 0.027). Pathologic complete response (pCR) was slightly higher in the IML group (41.4% vs. 34.0%; p = 0.03). There was no difference in breast or axillary surgery (p = 0.41 and p = 0.16), however IML patients were more likely to undergo radiation (68.2% vs. 54.1%; p < 0.001). With a median follow up of 3.72 years (range 0.4-10.2), there was no difference between IM+ versus IM- in LRR (5.6% vs. 3.8%; p = 0.25), DR (9.1% vs. 7.9%; p = 0.58), or EFS (61.6% vs. 57.2%; p = 0.48). This was true for patients with and without pCR. CONCLUSIONS: In this large cohort of patients treated with NAC, outcomes were not negatively impacted by IML. We demonstrated that IML influences treatment selection but is not a poor prognostic indicator when treated with modern NAC and multidisciplinary disease management.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica , Neoplasias da Mama , Linfadenopatia , Terapia Neoadjuvante , Recidiva Local de Neoplasia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Humanos , Feminino , Terapia Neoadjuvante/mortalidade , Pessoa de Meia-Idade , Neoplasias da Mama/patologia , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/terapia , Neoplasias da Mama/mortalidade , Recidiva Local de Neoplasia/patologia , Prognóstico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Taxa de Sobrevida , Linfadenopatia/patologia , Linfadenopatia/diagnóstico por imagem , Seguimentos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Adulto , Idoso , Imageamento por Ressonância Magnética , Quimioterapia Adjuvante
20.
Mod Pathol ; 37(9): 100559, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38969271

RESUMO

Fluorescence confocal microscopy (FCM) is an optical technique that uses laser light sources of different wavelengths to generate real-time images of fresh, unfixed tissue specimens. Unlike conventional histologic evaluation methods, FCM is able to assess fresh tissue samples without the associated cryo artifacts typically observed after frozen sectioning. The purpose of this study was to evaluate the utility of FCM imaging in the differential diagnosis of cervical lymphadenopathy. Twenty-two cervical lymph node specimens from patients with lymphadenopathy of unknown origin were imaged by FCM. Two pathologists independently evaluated the scans for suspicion of malignancy and preliminary diagnosis. Malignancy was reliably excluded or confirmed by both pathologists with a sensitivity of 90.9% for pathologist 1 and 100% for pathologist 2. The specificity was 100% for both pathologists. For the preliminary diagnosis, almost perfect agreement with the final diagnosis was observed for both pathologists (κ = 0.94 for pathologist 1 and κ = 1.00 for pathologist 2). This is the first study to investigate lymph node specimens with different diagnoses, including lymphoma, using FCM. Our results indicate that differential diagnosis of lymph node specimens is feasible in FCM images, thus encouraging further exploration of FCM imaging in lymph node specimens to accelerate diagnosis and open the possibility of digitizing diagnosis on fresh, unfixed tissue.


Assuntos
Linfonodos , Linfadenopatia , Microscopia Confocal , Humanos , Linfadenopatia/patologia , Linfadenopatia/diagnóstico por imagem , Linfadenopatia/diagnóstico , Microscopia Confocal/métodos , Feminino , Linfonodos/patologia , Linfonodos/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Adulto , Idoso , Diagnóstico Diferencial , Microscopia de Fluorescência , Pescoço/patologia , Pescoço/diagnóstico por imagem , Linfoma/patologia , Linfoma/diagnóstico , Linfoma/diagnóstico por imagem
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