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1.
Eur Radiol ; 34(2): 1324-1333, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37615763

RESUMO

OBJECTIVES: Artificial intelligence (AI) systems can diagnose thyroid nodules with similar or better performance than radiologists. Little is known about how this performance compares with that achieved through fine needle aspiration (FNA). This study aims to compare the diagnostic yields of FNA cytopathology alone and combined with BRAFV600E mutation analysis and an AI diagnostic system. METHODS: The ultrasound images of 637 thyroid nodules were collected in three hospitals. The diagnostic efficacies of an AI diagnostic system, FNA-based cytopathology, and BRAFV600E mutation analysis were evaluated in terms of sensitivity, specificity, accuracy, and the κ coefficient with respect to the gold standard, defined by postsurgical pathology and consistent benign outcomes from two combined FNA and mutation analysis examinations performed with a half-year interval. RESULTS: The malignancy threshold for the AI system was selected according to the Youden index from a retrospective cohort of 346 nodules and then applied to a prospective cohort of 291 nodules. The combination of FNA cytopathology according to the Bethesda criteria and BRAFV600E mutation analysis showed no significant difference from the AI system in terms of accuracy for either cohort in our multicenter study. In addition, for 45 included indeterminate Bethesda category III and IV nodules, the accuracy, sensitivity, and specificity of the AI system were 84.44%, 95.45%, and 73.91%, respectively. CONCLUSIONS: The AI diagnostic system showed similar diagnostic performance to FNA cytopathology combined with BRAFV600E mutation analysis. Given its advantages in terms of operability, time efficiency, non-invasiveness, and the wide availability of ultrasonography, it provides a new alternative for thyroid nodule diagnosis. CLINICAL RELEVANCE STATEMENT: Thyroid ultrasonic artificial intelligence shows statistically equivalent performance for thyroid nodule diagnosis to FNA cytopathology combined with BRAFV600E mutation analysis. It can be widely applied in hospitals and clinics to assist radiologists in thyroid nodule screening and is expected to reduce the need for relatively invasive FNA biopsies. KEY POINTS: • In a retrospective cohort of 346 nodules, the evaluated artificial intelligence (AI) system did not significantly differ from fine needle aspiration (FNA) cytopathology alone and combined with gene mutation analysis in accuracy. • In a prospective multicenter cohort of 291 nodules, the accuracy of the AI diagnostic system was not significantly different from that of FNA cytopathology either alone or combined with gene mutation analysis. • For 45 indeterminate Bethesda category III and IV nodules, the AI system did not perform significantly differently from BRAFV600E mutation analysis.


Assuntos
Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Humanos , Nódulo da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/genética , Biópsia por Agulha Fina/métodos , Neoplasias da Glândula Tireoide/patologia , Estudos Retrospectivos , Estudos Prospectivos , Inteligência Artificial
2.
Int J Surg ; 110(1): 372-384, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-37916932

RESUMO

BACKGROUND: Papillary thyroid cancer (PTC) is one of the most common endocrine malignancies with different risk levels. However, preoperative risk assessment of PTC is still a challenge in the worldwide. Here, the authors first report a Preoperative Risk Assessment Classifier for PTC (PRAC-PTC) by multidimensional features including clinical indicators, immune indices, genetic feature, and proteomics. MATERIALS AND METHODS: The 558 patients collected from June 2013 to November 2020 were allocated to three groups: the discovery set [274 patients, 274 formalin-fixed paraffin-embedded (FFPE)], the retrospective test set (166 patients, 166 FFPE), and the prospective test set (118 patients, 118 fine-needle aspiration). Proteomic profiling was conducted by FFPE and fine-needle aspiration tissues from the patients. Preoperative clinical information and blood immunological indices were collected. The BRAFV600E mutation were detected by the amplification refractory mutation system. RESULTS: The authors developed a machine learning model of 17 variables based on the multidimensional features of 274 PTC patients from a retrospective cohort. The PRAC-PTC achieved areas under the curve (AUC) of 0.925 in the discovery set and was validated externally by blinded analyses in a retrospective cohort of 166 PTC patients (0.787 AUC) and a prospective cohort of 118 PTC patients (0.799 AUC) from two independent clinical centres. Meanwhile, the preoperative predictive risk effectiveness of clinicians was improved with the assistance of PRAC-PTC, and the accuracies reached at 84.4% (95% CI: 82.9-84.4) and 83.5% (95% CI: 82.2-84.2) in the retrospective and prospective test sets, respectively. CONCLUSION: This study demonstrated that the PRAC-PTC that integrating clinical data, gene mutation information, immune indices, high-throughput proteomics and machine learning technology in multicentre retrospective and prospective clinical cohorts can effectively stratify the preoperative risk of PTC and may decrease unnecessary surgery or overtreatment.


Assuntos
Carcinoma Papilar , Neoplasias da Glândula Tireoide , Humanos , Câncer Papilífero da Tireoide/genética , Câncer Papilífero da Tireoide/cirurgia , Câncer Papilífero da Tireoide/patologia , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/cirurgia , Estudos Retrospectivos , Estudos Prospectivos , Proteômica , Carcinoma Papilar/cirurgia , Aprendizado de Máquina , Medição de Risco , Proteínas Proto-Oncogênicas B-raf/genética
3.
Genes (Basel) ; 14(12)2023 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-38136962

RESUMO

Myostatin (mstn), also known as GDF8, is a growth and differentiation factor of the transforming growth factor-ß (TGF-ß) superfamily and plays a key inhibitory effect in the regulation of skeletal muscle development and growth in vertebrates. In the present study, to comprehend the role of the mstn2 gene of the yellowfin seabream Acanthopagrus latus (Almstn2b), the genomic sequence of Almstn2b is 2359 bp, which encodes 360 amino acids and is composed of three exons and two introns, was obtained. Two typical regions, a TGF-ß propeptide and TGF-ß domain, constitute Almstn2b. The topology indicated that Almstn2 was grouped together with other Perciformes, such as the gilthead seabream Sparus aurata. Moreover, Almstn2b was mainly expressed in the brain, fins, and spleen. Furthermore, five SNPs, one in the exons and four in the introns, were identified in the Almstn2b gene. The allele and genotype frequencies of SNP-Almstn2b +1885 A/G were significantly related to the total weight, interorbital distance, stem length, tail length, caudal length, caudal height, body length, and total length (p < 0.05). The allele and genotype frequencies of SNP-Almstn2b +1888 A/G were significantly related to the weight, interorbital distance, long head behind the eyes, body height, tail length, caudal length, and body length. Additionally, the relationship between the SNP-Almstn2b +1915 A/G locus and weight and long head behind the eyes was significant (p < 0.05). Furthermore, the other two SNPs were not significantly associated with any traits. Thus, the SNPs identified in this study could be utilized as candidate SNPs for breeding and marker-assisted selection in A. latus.


Assuntos
Perciformes , Dourada , Animais , Dourada/genética , Sequência de Aminoácidos , Perciformes/genética , Perciformes/metabolismo , Polimorfismo de Nucleotídeo Único/genética , Fator de Crescimento Transformador beta/metabolismo
4.
Acta Radiol ; 63(4): 553-558, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33779301

RESUMO

BACKGROUND: Although there are different treatments for benign prostate hyperplasia, their efficacy and safety differ. We are currently exploring a new minimally invasive interventional therapy for benign prostatic hyperplasia (BPH). PURPOSE: To determine the feasibility, effectiveness, and safety of ultrasound-guided transperineal laser ablation (US-TPLA) for the treatment of BPH. MATERIAL AND METHODS: Twenty patients with BPH (mean age = 73.9 ± 9.2 years) who underwent US-TPLA from June 2018 to January 2020 with a subsequent six-month follow-up were retrospectively reviewed. After local anesthesia, a 21-G trocar was inserted into the prostate tissue under ultrasound monitoring, followed by 1064 nm diode laser irradiation. Changes in international prostate symptom score (IPSS), quality of life (QoL), maximum urinary flow rate (Qmax), postvoid residual (PVR), prostate volume, and complications were evaluated six months after surgery. RESULTS: All patients underwent the operation successfully without serious complications. After six months, the average IPSS improved from 22.7 ± 5.3 to 9.1 ± 3.2 (P < 0.001), the QoL improved from 4.9 ± 1.7 to 2.3 ± 1.3 (P < 0.001), the Qmax improved from 8.5 ± 3.0 to 15.2 ± 4.8 mL/s (P < 0.001), the PVR increased from 78.7 ± 58.8 to 30.3 ± 34.2 (P < 0.05), and the mean prostate volume ranged from 70.8 ± 23.8 to 54.7 ± 20.9 mL (P < 0.05). CONCLUSION: US-TPLA is safe and feasible for the treatment of BPH. An evaluation at the six-month follow-up is effective.


Assuntos
Terapia a Laser/métodos , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Hiperplasia Prostática/diagnóstico por imagem , Hiperplasia Prostática/cirurgia , Ultrassonografia de Intervenção/métodos , Idoso , Idoso de 80 Anos ou mais , Estudos de Viabilidade , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Próstata/diagnóstico por imagem , Próstata/cirurgia , Resultado do Tratamento
6.
BMC Pregnancy Childbirth ; 21(1): 294, 2021 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-33845788

RESUMO

BACKGROUND: Both Caroli disease (CD) and autosomal recessive polycystic kidney disease (ARPKD) are autosomal recessive disorders, which are more commonly found in infants and children, for whom surviving to adulthood is rare. Early diagnosis and intervention can improve the survival rate to some extent. This study adopted the case of a 26-year-old pregnant woman to explore the clinical and imaging manifestations and progress of CD concomitant with ARPKD to enable a better understanding of the disease. CASE PRESENTATION: A 26-year-old pregnant woman was admitted to our hospital for more than 2 months following the discovery of pancytopenia and increased creatinine. Ultrasonography detected an enlarged left liver lobe, widened hepatic portal vein, splenomegaly, and dilated splenic vein. In addition, both kidneys were obviously enlarged and sonolucent areas of varying sizes were visible, but color Doppler flow imaging revealed no abnormal blood flow signals. The gestational age was approximately 25 weeks, which was consistent with the actual fetal age. Polyhydramnios was detected but no other abnormalities were identified. Magnetic resonance imaging revealed that the liver was plump, and polycystic liver disease was observed near the top of the diaphragm. The T1 and T2 weighted images were the low and high signals, respectively. The bile duct was slightly dilated; the portal vein was widened; and the spleen volume was enlarged. Moreover, the volume of both kidneys had increased to an abnormal shape, with multiple, long, roundish T1 and T2 abnormal signals being observed. Magnetic resonance cholangiopancreatography revealed that intrahepatic cystic lesions were connected with intrahepatic bile ducts. The patient underwent a genetic testing, the result showed she carried two heterozygous mutations in PKHD1. The patient was finally diagnosed with CD with concomitant ARPKD. The baby underwent a genetic test three months after birth, the result showed that the patient carried one heterozygous mutations in PKHD1, which indicated the baby was a PKHD1 carrier. CONCLUSIONS: This case demonstrates that imaging examinations are of great significance for the diagnosis and evaluation of CD with concomitant ARPKD.


Assuntos
Doença de Caroli/diagnóstico , Rim Policístico Autossômico Recessivo/diagnóstico , Poli-Hidrâmnios/diagnóstico , Complicações na Gravidez/diagnóstico , Adulto , Ductos Biliares Intra-Hepáticos/diagnóstico por imagem , Doença de Caroli/complicações , Doença de Caroli/genética , Colangiopancreatografia por Ressonância Magnética , Análise Mutacional de DNA , Feminino , Heterozigoto , Humanos , Rim/diagnóstico por imagem , Fígado/diagnóstico por imagem , Teste Pré-Natal não Invasivo , Rim Policístico Autossômico Recessivo/complicações , Rim Policístico Autossômico Recessivo/genética , Poli-Hidrâmnios/etiologia , Gravidez , Complicações na Gravidez/genética , Receptores de Superfície Celular/genética , Ultrassonografia Doppler em Cores
7.
Medicine (Baltimore) ; 98(41): e17455, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31593102

RESUMO

INTRODUCTION: Behçet disease (BD) is an autoimmune disorder characterized by oral aphthosis, genital aphthosis, ocular lesions, and arthritis. However, other fatal complications are often misdiagnosed, which implies that the early diagnosis of the disease is important for a good prognosis. PATIENT CONCERNS: A 51-year-old man complained of hematemesis for 5 hours and syncope once. DIAGNOSIS: BD as demonstrated by esophageal ulcer and aortic aneurysm rupture. INTERVENTIONS: Surgeries were conducted to repair the thoracic aortic aneurysm, proton-pump inhibitor was used to reduce acid secretion, antibiotics were applied for anti-infective therapy, and immunosuppressor was administered to control the injuries of BD. OUTCOMES: The patient was discharged and his medication dosage was reduced gradually until the minimum maintenance dose. In the follow-ups, the gastric ulcer and vascular aneurysm were not found. CONCLUSION: We presented a rare case of BD with the concurrence of huge esophageal ulcer and thoracic aortic aneurysms rupture, which helped us to diagnose BD at the early stage, while confronting atypical manifestations.


Assuntos
Aneurisma da Aorta Torácica/etiologia , Ruptura Aórtica/etiologia , Síndrome de Behçet/complicações , Doenças do Esôfago/etiologia , Hemorragia Gastrointestinal/etiologia , Humanos , Masculino , Pessoa de Meia-Idade
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