Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 185
Filtrar
1.
Neurol Sci ; 2024 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-38755484

RESUMO

BACKGROUND: The mutations in the presenilin 1 gene (PSEN1) are the main cause of familial Alzheimer's disease. PSEN1 mutations affect amyloid-beta peptide production, which accumulates in the brain as senile plaque and cotton wool plaques (CWPs) and relates to other neurodegenerative disorders. Here we report the second case of the PSEN1 G266S mutation, which showed distinctive neuropathological features, including abundant CWPs. Lewy body pathology, and altered amyloid-beta production. METHOD: Using the proband's samples, we performed genetic analysis of the PSEN1, APP, MAPT, and APOE genes, histopathological and immunohistochemical analysis of the brain tissue, and biochemical analysis of Aß production in COS cells transfected with wild-type or mutant PSEN1. RESULTS: The patient presented with memory loss, abnormal behavior, and visual hallucinations. Brain scans showed reduced blood flow, mild atrophy, and white matter lesions. Genetic analysis revealed a heterozygous mutation at codon 266 (G266S) of PSEN1 and polymorphism of MAPT (Q230R). The brain had many CWPs, severe cerebral amyloid angiopathy (CAA), senile plaque, Lewy bodies, and neurites. Electron microscopy displayed myelinated fiber degeneration, mitochondrial damage, and amyloid fibrils in the white matter. The production level of Aß42 in PSEN1 G266S-transfected cells significantly increased. CONCLUSION: Our findings suggest that the PSEN1 G266S mutation may cause a heterogeneous clinical and pathological phenotype, influenced by other genetic or environmental factors.

2.
Curr Oncol ; 31(5): 2846-2855, 2024 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-38785497

RESUMO

Accurate diagnosis of the localization of prostate cancer (PCa) on magnetic resonance imaging (MRI) remains a challenge. We aimed to assess discrepancy between the location of PCa pathologically diagnosed using surgical specimens and lesions indicated as possible PCa by the Prostate Imaging Reporting and Data System on MRI. The primary endpoint was the concordance rate between the site of probable clinically significant PCa (csPCa) identified using biparametric MRI (bpMRI) and location of PCa in the surgical specimen obtained using robot-assisted total prostatectomy. Among 85 lesions identified in 30 patients; 42 (49.4%) were identified as possible PCa on MRI. The 85 PCa lesions were divided into positive and negative groups based on the bpMRI results. None of the patients had missed csPCa. Although the diagnostic accuracy of bpMRI was relatively high for PCas located in the middle of the prostate (p = 0.029), it was relatively low for PCa located at the base of the prostate, all of which were csPCas. Although current modalities can accurately diagnose PCa, the possibility that PCa is present with multiple lesions in the prostate should be considered, even if MRI does not detect PCa.


Assuntos
Imageamento por Ressonância Magnética , Neoplasias da Próstata , Humanos , Masculino , Neoplasias da Próstata/cirurgia , Neoplasias da Próstata/diagnóstico por imagem , Neoplasias da Próstata/patologia , Idoso , Pessoa de Meia-Idade , Imageamento por Ressonância Magnética/métodos , Prostatectomia/métodos
3.
Abdom Radiol (NY) ; 2024 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-38584191

RESUMO

OBJECTIVE: This study aimed to evaluate the efficacy of CT and MRI findings to differentiate small cell neuroendocrine carcinoma (SCNEC) from urothelial carcinoma (UC) of the urinary bladder. MATERIALS AND METHODS: This study included 90 patients with histopathologically confirmed bladder cancer (10 SCNECs and 80 UCs). Eight patients with bladder SCNEC and 80 with UC underwent CT and MRI, whereas the remaining two patients with SCNEC underwent CT alone before treatment. CT and MRI findings were retrospectively evaluated and compared between the two pathologies. RESULTS: The maximum diameter (36.5 mm vs. 19.0 mm, p < 0.01) and height (22.0 mm vs. 14.0 mm, p < 0.01) of the tumor in bladder SCNEC were higher than in UC. The pedunculated configuration (20% vs. 61%, p < 0.05) and irregular tumor margins (20% vs. 76%, p < 0.01) in bladder SCNEC were less common than in UC. The CT attenuation of the solid component in unenhanced CT images was higher in bladder SCNEC than in UC (37 Hounsfield unit [HU] vs. 34 HU, p < 0.01). The apparent diffusion coefficient (ADC) of the solid component in bladder SCNEC was lower than in UC (0.49 × 10-3 mm2/s vs. 1.02 × 10-3 mm2/s, p < 0.01). CONCLUSION: In comparison with UC, bladder SCNEC was larger, had higher unenhanced CT attenuation, and had a lower ADC value. The pedunculated configuration and irregular tumor margins were typical of bladder UC.

4.
Intern Med ; 2024 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-38432964

RESUMO

Combined hepatocellular cholangiocarcinoma is a rare and challenging primary liver malignancy that lacks any established standard treatments for unresectable cases. We herein present the first known case of a 49-year-old woman diagnosed with unresectable combined hepatocellular-cholangiocarcinoma, who underwent novel chemotherapy involving durvalumab plus tremelimumab combination therapy. The treatment was temporarily discontinued owing to immune-related adverse events, such as rash, and the patient was subsequently managed with systemic steroid therapy; however, the disease progressed after two courses of this treatment. Further studies are needed to validate the efficacy and safety of immune checkpoint inhibitors such as durvalumab and tremelimumab for the treatment of unresectable combined hepatocellular cholangiocarcinoma.

6.
Jpn J Radiol ; 42(5): 500-507, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38146022

RESUMO

OBJECTIVE: This study aimed to evaluate the efficacy of MRI findings to differentiate malignant transformation arising from mature cystic teratoma (MT-MCT) of the ovary from benign mature cystic teratoma (BMCT). MATERIALS AND METHODS: This study included 11 patients with histopathologically proven MT-MCT and 50 with BMCT. Overall, 7 patients with MT-MCT and all 50 with BMCT underwent unenhanced and contrast-enhanced MRIs and 4 with MT-MCT only underwent unenhanced MRIs. The MRI findings were evaluated and compared between the two diseases. RESULTS: The median age (55 vs. 38 years, p < 0.01) and maximum diameter (109 vs. 65 mm, p < 0.01) were higher in MT-MCT than in BMCT. Fat component occupancy was lower in MT-MCT than in BMCT (median, 5% vs. 63%, p < 0.01). Only MT-MCT exhibited irregular tumor margins (64%), peritoneal dissemination (18%), and abnormal ascites (27%). The solid components were more commonly observed in MT-MCT than in BMCT (100% vs. 32%, p < 0.01) on contrast-enhanced images. The maximum diameter of solid components in MT-MCT was larger than that in BMCT (median, 61 mm vs. 14 mm, p < 0.01). In MT-MCT, the common configuration of solid components was endophytic or exophytic sessile (85%), whereas in BMCT, it was endophytic papillary (88%). CONCLUSION: Compared with BMCT, MT-MCT demonstrated a larger maximum diameter, lower occupancy rate of fat components, and sessile solid components. The characteristic configuration of solid components was endophytic or exophytic sessile in MT-MCT and endophytic papillary in BMCT.


Assuntos
Transformação Celular Neoplásica , Meios de Contraste , Imageamento por Ressonância Magnética , Neoplasias Ovarianas , Teratoma , Humanos , Feminino , Teratoma/diagnóstico por imagem , Teratoma/patologia , Neoplasias Ovarianas/diagnóstico por imagem , Neoplasias Ovarianas/patologia , Adulto , Imageamento por Ressonância Magnética/métodos , Pessoa de Meia-Idade , Diagnóstico Diferencial , Idoso , Estudos Retrospectivos , Ovário/diagnóstico por imagem , Ovário/patologia , Adulto Jovem , Adolescente
7.
Artigo em Inglês | MEDLINE | ID: mdl-38083833

RESUMO

OBJECTIVE: This study aimed to assess the usefulness of magnetic resonance imaging (MRI) findings for differentiating low-grade and high-grade malignant peripheral nerve sheath tumors (MPNSTs). METHODS: This study included 31 patients (onset age range, 19-83 years; mean onset age, 57 years; 9 men and 22 women) with 36 histopathologically proven MPNSTs (7 low-grade MPNSTs and 29 high-grade MPNSTs) who underwent preoperative MRI between December 2007 and October 2022. Quantitative and qualitative MRI findings were retrospectively evaluated and compared between the 2 subtypes. RESULTS: The maximum tumor diameter (106.1 ± 64.0 vs 54.9 ± 19.8 mm, P = 0.032) and tumor-to-muscle signal intensity ratio (SIR) of fat-suppressed gadolinium-enhanced T1-weighted images (2.69 ± 1.40 vs 1.62 ± 0.40, P = 0.005) were significantly higher in high-grade MPNSTs than in low-grade MPNSTs. The receiver operating characteristic analysis revealed that the tumor-to-muscle SIR of fat-suppressed gadolinium-enhanced T1-weighted images exhibited the highest area under the curve value (0.88), followed by the maximum tumor diameter (0.76). The sensitivity and specificity of the tumor-to-muscle SIR of fat-suppressed gadolinium-enhanced T1-weighted images for diagnosing high-grade MPNST at an optimal SIR threshold of greater than 1.73 were 90% and 83%, respectively. However, other MRI findings showed no significant differences between the 2 subtypes (P = 0.16-1.00). CONCLUSIONS: Although the MRI findings of low-grade and high-grade MPNST overlapped considerably, the maximum tumor diameter and degree of contrast enhancement can be used to differentiate low-grade MPNST from high-grade MPNST.

8.
Hepatol Res ; 2023 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-38126665

RESUMO

AIM: A20 haploinsufficiency (HA20) is a recently described autoinflammatory disease that manifests symptoms similar to those of Behçet's disease. However, little is known about the involvement of the liver in HA20. Here, we report a case of HA20 complicated by autoimmune hepatitis (AIH). CASE PRESENTATION: A 33-year-old woman was previously diagnosed with HA20 and chronic thyroiditis, and was treated with prednisolone (PSL; 7.5 mg/day) and levothyroxine sodium hydrate (125 µg/day). She experienced general malaise and jaundice, and biochemical evaluation revealed elevated liver function with an aspartate aminotransferase level of 817 U/L, an alanine aminotransferase level of 833 U/L, and a total bilirubin of 8.3 mg/dL. Pathological evaluation of the liver biopsy revealed interface hepatitis and the patient was diagnosed with acute exacerbation of AIH. Upon increasing the PSL dose to 60 mg/day, the liver enzyme levels rapidly decreased. During tapering of PSL, azathioprine 50 mg/day was added, and there was no relapse of AIH with combination therapy of PSL 7 mg/day and azathioprine 50 mg/day. CONCLUSION: This is the first report of biopsy-proven AIH in an Asian patient with HA20. This case has significant implications for the pathogenesis and treatment of AIH in patients with HA20.

9.
Hematology ; 28(1): 2240135, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37489937

RESUMO

BACKGROUND: Transient abnormal myelopoiesis (TAM) is characterized by leukocytosis with increased circulating megakaryoblasts that harbor N-terminal truncating mutations in the GATA1 gene. Approximately 10% of affected patients experience early death. OBSERVATIONS: A 2-month-old boy with Down syndrome was diagnosed with TAM and followed without treatment. Although the blasts in the peripheral blood disappeared, liver failure progressed. A pathological examination revealed liver fibrosis, and double-immunostaining for full-length GATA1 and CD42b identified megakaryocytes with a GATA1 mutation. CONCLUSIONS: This simple and cost-effective method can be applied in routine practice to detect TAM blasts during assessment in a TAM crisis.


Assuntos
Síndrome de Down , Masculino , Humanos , Lactente , Leucócitos , Biópsia , Fígado , Fator de Transcrição GATA1
10.
Urol Case Rep ; 50: 102477, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37416752

RESUMO

A 30-year-old man presented to his previous physician with left abdominal pain. Computed tomography revealed a left retroperitoneal mass with calcification, measuring 15 × 9 × 6 cm, and the patient was referred to our hospital for further examination. Based on the endocrinologic examination and magnetic resonance imaging results, the patient was diagnosed with a nonfunctional left adrenal tumor, and laparoscopic left adrenalectomy was performed. Histopathology revealed well-defined boundaries between the tumor and the left adrenal gland, and the tumor was diagnosed as a non-seminoma consisting mainly of an immature teratoma with germ cell neoplasm in situ.

11.
Auris Nasus Larynx ; 50(6): 952-959, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37164815

RESUMO

OBJECTIVE: Head and neck cancer (HNC) is a tumor occurring in various primary sites with limited chemotherapy options for its treatment. Recently, comprehensive genomic profiling (CGP) testing has become clinically widespread. In this study, we examined the utility of CGP in diagnosing and treating HNC. METHODS: This study included 29 patients with HNC who underwent CGP testing at the Gifu University Hospital between December 2019 and April 2022. We analyzed the types of gene mutations and tumor mutational burden (TMB) based on the CGP results. Squamous cell carcinoma accounted for 55.2%, and other cancers accounted for 44.8%. And we investigated the correlation of prognosis with gene mutations and TMB. RESULTS: Gene mutations were detected in TP53(48.3%), CDKN2A (27.6%), CDKN2B (17.2%), NOTCH1 (17.2%), PIK3CA (17.2%), ARID1A (13.8%), and NF1 (13.8%). TP53, CDKN2A and CDKN2B mutations significantly decreased survival rate in HNC. Five cases (17.2%) were TMB-high and 82.8% were TMB-low. In SCC cases treated with immune checkpoint inhibitors, TMB-high had better Overall survival than TMB-low. And all patients with TMB-high were oropharyngeal cancer. CONCLUSION: Although there were no cases in which effective treatment was actually performed based on the results of CGP, many gene mutations have been detected and several gene mutations correlated with prognosis. Furthermore, TMB can be used as a biomarker to predict the therapeutic effects of immune checkpoint inhibitors in cases of SCC.


Assuntos
Carcinoma de Células Escamosas , Neoplasias de Cabeça e Pescoço , Humanos , Inibidores de Checkpoint Imunológico/uso terapêutico , Neoplasias de Cabeça e Pescoço/terapia , Neoplasias de Cabeça e Pescoço/tratamento farmacológico , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/tratamento farmacológico , Mutação , Prognóstico , Biomarcadores Tumorais/genética
12.
Proc Natl Acad Sci U S A ; 120(12): e2211522120, 2023 03 21.
Artigo em Inglês | MEDLINE | ID: mdl-36917672

RESUMO

Ribosome-associated quality control (RQC) pathway is responsible for degradation of nascent polypeptides in aberrantly stalled ribosomes, and its defects may lead to neurological diseases. However, the underlying molecular mechanism of how RQC dysfunction elicits neurological disorders remains poorly understood. Here we revealed that neurons with knockout (KO) of ubiquitin ligase LTN1, a key gene in the RQC pathway, show developmental defects in neurons via upregulation of TTC3 and UFMylation signaling proteins. The abnormally enhanced TTC3 protein in Ltn1 KO neurons reduced further accumulation of translationally arrested products by preventing translation initiation of selective genes. However, the overaccumulated TTC3 protein in turn caused dendritic abnormalities and reduced surface-localized GABAA receptors during neuronal development. Ltn1 KO mice showed behavioral deficits associated with cognitive disorders, a subset of which were restored by TTC3 knockdown in medial prefrontal cortex. Together, the overactivated cellular compensatory mechanism against defective RQC through TTC3 overaccumulation induced synaptic and cognitive deficits. More broadly, these findings represent a novel cellular mechanism underlying neuronal dysfunctions triggered by exaggerated cellular stress response to accumulated abnormal translation products in neurons.


Assuntos
Disfunção Cognitiva , Ribossomos , Ubiquitina-Proteína Ligases , Animais , Camundongos , Disfunção Cognitiva/genética , Disfunção Cognitiva/metabolismo , Biossíntese de Proteínas , Ribossomos/genética , Ribossomos/metabolismo , Ubiquitina-Proteína Ligases/metabolismo , Ubiquitinação
13.
Br J Radiol ; 96(1143): 20220743, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36607278

RESUMO

OBJECTIVE: This study aimed to evaluate the efficacy of using MRI findings to differentiate superficial spindle cell lipomas (SCLs) from atypical lipomatous tumor/well-differentiated liposarcomas (ALT/WDLs). METHODS: This study included 12 patients with histopathologically proven superficial SCLs and 11 with ALT/WDLs. MRI findings for both pathologies were retrospectively reviewed and compared between the two pathologies. RESULTS: The neck, upper back, and shoulder regions were more frequent locations of SCLs than of ALT/WDLs (100% vs 55%, p < 0.05), whereas no significant differences were observed in age and sex. The median maximum diameter of the lesion was smaller in SCLs than in ALT/WDLs (44 mm [interquartile range (IQR): 35-63] vs 102 mm [IQR: 86-119], p < 0.05). On T 1 weighted images, non-fatty area was more frequently observed in SCLs than in ALT/WDLs (73% vs 25%, p < 0.05), and the median rate of non-fatty area was larger in SCLs than in ALT/WDLs (7.5% [IQR: 1.0-53] vs 0% [IQR: 0-0.2], p < 0.05). On fat-suppressed T 2 weighted images, a solid hyperintense area was more frequently observed in SCLs than in ALT/WDLs (83% vs 27%, p < 0.05). CONCLUSION: The maximum diameter, non-fatty area on T 1 weighted images, and solid hyperintense area on fat-suppressed T 2 weighted images were useful imaging features for differentiating superficial SCLs from ALT/WDLs. ADVANCES IN KNOWLEDGE: In superficial lipomatous tumors, small tumor size and non-fatty solid area were valuable findings for diagnosing SCLs.


Assuntos
Lipoma , Lipossarcoma , Neoplasias Lipomatosas , Humanos , Lipossarcoma/diagnóstico por imagem , Lipossarcoma/patologia , Estudos Retrospectivos , Lipoma/diagnóstico por imagem , Lipoma/patologia , Diagnóstico Diferencial , Imageamento por Ressonância Magnética
14.
JBJS Case Connect ; 13(1)2023 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-36656996

RESUMO

CASE: A 76-year-old woman presented with a 2-month history of right shoulder pain with no apparent cause. Radiography revealed an ill-defined osteolytic lesion in the right scapular spine with a pathological fracture. Malignant bone tumor was suspected, and a biopsy was performed. Pathological examination with gold hydroxamic acid staining revealed phosphoglyceride crystal deposition. Lesion curettage was performed, and her symptoms improved. No recurrence was observed at the 3-year postoperative follow-up. CONCLUSION: Phosphoglyceride crystal deposition in the bone is an extremely rare disease. The gold hydroxamic acid staining method might be useful for the diagnosis of this condition.


Assuntos
Neoplasias Ósseas , Glicerofosfolipídeos , Feminino , Humanos , Idoso , Escápula/diagnóstico por imagem , Escápula/patologia , Radiografia , Dor de Ombro/etiologia , Neoplasias Ósseas/patologia
15.
Sci Rep ; 13(1): 508, 2023 01 10.
Artigo em Inglês | MEDLINE | ID: mdl-36627370

RESUMO

Polycystic kidney disease (PKD) is a common genetic disorder arising from developmental and postnatal processes. Defects in primary cilia and their signaling (eg, mTOR) underlie the pathogenesis. However, how mTOR regulates tubular integrity remains unclear. The paucity of faithful models has limited our understanding of pathogenesis and, therefore, the refinement of therapeutic targets. To understand the role of mTOR in early cystogenesis, we studied an in-house mouse model, Cd79a-Cre;Tsc1ff. (Cd79a-Tsc1 KO hereafter), recapitulating human autosomal-dominant PKD histology. Cre-mediated Tsc1 depletion driven by the promoter for Cd79a, a known B-cell receptor, activated mTORC1 exclusively along the distal nephron from embryonic day 16 onward. Cysts appeared in the distal nephron at 1 weeks of age and mice developed definite PKD by 4 weeks. Cd79a-Tsc1 KO tubule cells proliferated at a rate comparable to controls after birth but continued to divide even after postnatal day 14 when tubulogenesis is normally completed. Apoptosis occurred only after 9 weeks. During postnatal days 7-11, pre-cystic Cd79a-Tsc1 KO tubule cells showed cilia elongation, aberrant cell intercalation, and mitotic division, suggesting that defective cell planar polarity (PCP) may underlie cystogenesis. mTORC1 was activated in a portion of cyst-lining cells and occasionally even when Tsc1 was not depleted, implying a non-autonomous mechanism. Our results indicate that mTORC1 overactivation in developing distal tubules impairs their postnatal narrowing by disrupting morphogenesis, which orients an actively proliferating cell toward the elongating axis. The interplay between mTOR and cilium signaling, which coordinate cell proliferation with PCP, may be essential for cystogenesis.


Assuntos
Doenças Renais Policísticas , Serina-Treonina Quinases TOR , Animais , Camundongos , Antígenos CD79 , Alvo Mecanístico do Complexo 1 de Rapamicina , Néfrons/metabolismo , Doenças Renais Policísticas/genética , Transdução de Sinais , Serina-Treonina Quinases TOR/metabolismo
16.
Skeletal Radiol ; 52(4): 743-749, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36316472

RESUMO

OBJECTIVE: The purpose of this study was to assess the frequency and MRI features of a subcutaneous anterior knee mass herniated from the infrapatellar fat pad (IPFP) through a focal defect of the patellar retinaculum (PR). MATERIALS AND METHODS: This study included 94 patients (44 men; age range, 1-80 years; mean age, 52 years) with clinically palpable subcutaneous anterior knee masses who underwent MRI between January 2007 and July 2022. Two radiologists retrospectively reviewed MRI findings of subcutaneous masses associated with a focal PR defect (location and size of the defect and characteristics of the mass). RESULTS: Among 94 patients, 15 (16%; 5 men; age range, 49-80 years; mean age, 67 years) had subcutaneous masses herniated from the IPFP through a focal PR defect. The defect was single (13/15, 87%) and more frequently observed in the lateral than in the medial (11/15, 73% vs. 4/15, 27%) PR. The defect occurred in the anterior segment (15/15, 100%) and was more frequently observed in the lower (10/15, 67%) than in the middle (5/15, 33%) and upper portions (0/15, 0%). The mean maximum length of the defect in axial and oblique planes was 14 mm and 25 mm, respectively. The defect-associated subcutaneous masses included lipomatous lesion (6/15, 40%), osteochondromatous lesion (5/16, 33%), and synovial fluid or ganglion cyst (4/15, 27%). CONCLUSION: Subcutaneous anterior knee masses were associated with a focal PR defect in 16% cases. The location of a focal PR defect was characterized by the lateral, anterior, and lower segments.


Assuntos
Neoplasias Ósseas , Articulação do Joelho , Masculino , Humanos , Lactente , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Estudos Retrospectivos , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/patologia , Joelho , Tecido Adiposo/patologia , Imageamento por Ressonância Magnética , Neoplasias Ósseas/patologia
17.
Neuroradiol J ; 36(3): 361-365, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36384335

RESUMO

This report describes CT and MRI findings of temporal bone metastasis from follicular thyroid carcinoma in two cases. Both of these had large, osteolytic, hypervascular masses of the temporal bone, accompanied by internal scattered bone fragments and extraosseous mass formation on unenhanced and contrast-enhanced CT images. In the first case, several dilated and tortuous vessels within the markedly hypervascular mass were observed on the arterial phase of dynamic contrast-enhanced CT images. Compared with the signal intensity of the cerebellum, temporal bone masses showed slightly hypo- to slightly hyperintense on T1-weighted images and slightly hypo- to moderately hyperintense on T2-weighted images. Both cases had flow voids in abnormally dilated vessels within the mass on T1- and T2-weighted images. Thyroid follicular carcinoma rarely metastasizes the temporal bone and presents with an osteolytic hypervascular mass with flow void sign.


Assuntos
Adenocarcinoma Folicular , Neoplasias da Glândula Tireoide , Humanos , Adenocarcinoma Folicular/diagnóstico por imagem , Meios de Contraste , Imageamento por Ressonância Magnética/métodos , Estudos Retrospectivos , Osso Temporal/diagnóstico por imagem , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Feminino , Pessoa de Meia-Idade
18.
Mod Rheumatol ; 33(1): 1-11, 2023 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-35535676

RESUMO

Pathological findings are important in the diagnosis of vasculitis. However, due to the rarity of the disease, standard textbooks usually devote only a few pages to this topic, and this makes it difficult for clinicians not specializing in vasculitis to fully understand the pathological findings in vasculitis. To address the paucity of information, we present representative pathological findings in vasculitis classified in the 2012 Revised International Chapel Hill Consensus Conference Nomenclature of Vasculitides (CHCC2012). The CHCC2012 classifies 26 vasculitides into seven categories: (1) large-vessel vasculitis, (2) medium-vessel vasculitis, (3) small-vessel vasculitis, including antineutrophil cytoplasmic antibody-associated vasculitis and immune complex small-vessel vasculitis, (4) variable-vessel vasculitis, (5) single-organ vasculitis, (6) vasculitis associated with systemic disease, and (7) vasculitis associated with probable aetiology. Moreover, representative pathological findings of vasculitis-related diseases and non-inflammatory vasculopathy not mentioned in the CHCC2012 are also presented. This will be useful for clinicians to refer to typical pathological findings of vasculitis in daily practice.


Assuntos
Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos , Humanos , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/complicações , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/diagnóstico , Consenso
19.
Front Med (Lausanne) ; 9: 1046820, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36544501

RESUMO

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome has recently been described as an autoinflammatory disease associated with severe adult-onset inflammatory manifestations. The various clinical manifestations include recurrent high-grade fever, neutrophilic dermatoses, cutaneous vasculitis, chondritis of the ear and nose, pulmonary infiltrates, cytopenia, uveitis, gastrointestinal pain or inflammation, aortitis, hepatosplenomegaly, and hematological disorders. VEXAS syndrome is caused by somatic mutations of the ubiquitin-like modifier activating enzyme 1 (UBA1) gene in myeloid-lineage cells. It is characterized by vacuolated myeloid and erythroid progenitor cells seen by bone marrow biopsy. We report the case of a 64-year-old Japanese man with VEXAS syndrome. At age 63, he was referred to us with a recurrent erythema on the hands associated with a general fever of 38-40°C that had persisted for 4 or 5 days and had recurred about once a month for a year. The skin rash appeared 2 or 3 days after the onset of each fever episode. Computed tomography (CT) of the chest revealed bilateral hilar lymphadenopathy (BHL), and the mediastinal lymph nodes were swollen. Sarcoidosis was suspected but was ruled out by several tests. Laboratory examinations showed elevated inflammatory markers. Bone marrow examination showed the vacuolization of myeloid precursor cells. A skin biopsy revealed dense dermal, predominantly perivascular, infiltrates. These consisted of mature neutrophils admixed with myeloperoxidase-positive CD163-positive myeloid cells, lymphoid cells and eosinophils. Sequencing analysis identified the somatic UBA1 variant c.122T > C, which results in p.Met41Thr. Treatment with oral prednisone (15 mg/day) and monthly intravenous tocilizumab injections (400 mg) completely resolved the symptoms. Neutrophils are a major source of reactive oxygen species, and the present case demonstrated numerous neutrophilic infiltrates. We hypothesize that the patient might have had elevated derivatives of reactive oxygen metabolites (d-ROMs). d-ROM quantification is a simple method for detecting hydroperoxide levels, and clinical trials have proven it useful for evaluating oxidative stress. In this study, we measured serum d-ROM before and after oral prednisone and tocilizumab treatment. The levels decreased significantly during treatment.

20.
Diagnostics (Basel) ; 12(11)2022 Nov 11.
Artigo em Inglês | MEDLINE | ID: mdl-36428820

RESUMO

BACKGROUND: Decision-making and selection of treatment modalities for newly diagnosed prostate cancer (PCa) are often determined by risk stratification using grade group (GG), prostate-specific antigen (PSA), and clinical stage. The discrepancies between needle biopsy (NB) and radical prostatectomy (RP) specimens often occur because of the sampling errors in NB or multifocal features of PCa. Thus, we aimed to estimate the preoperative clinical factors for predicting GG upgrading after robot-assisted RP (RARP). METHODS: In this retrospective study, we reviewed the clinical and pathological records of patients who underwent RARP at Gifu University Hospital. We focused on patients with organ-confined PCa who had not received neoadjuvant therapy prior to RARP. The primary endpoint was identified as the predictive factor of GG upgrading for RARP specimens compared to those of NB specimens. RESULTS: Eighty-one patients were included in this study. The enrolled patients were divided into two groups: those who had GG upgrading for RARP specimens (the NB upgrade group) or those who did not have GG upgrading (the no upgrade group). The median age of all patients was 70 years, and the median body mass index (BMI) was 22.9 kg/m2. The median neutrophil count was 3720/µL, lymphocyte count was 1543/µL, and neutrophil-to-lymphocyte ratio (NLR) was 2.24. In univariate analysis, BMI, PSA, neutrophil count, and NLR were significantly associated with GG upgrading in RARP specimens compared to NB specimens. BMI and NLR were identified as strong predictive factors for GG upgrading in RARP specimens in the multivariate analysis. CONCLUSIONS: Although this study's small number of enrolled patients was a vital weakness, BMI and NLR might have been significantly correlated with GG upgrading for RP specimens compared with NB specimens. Therefore, BMI and NLR may have potential benefits for newly diagnosed patients with PCa in terms of decision-making and the selection of treatment modalities.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA