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OBJECTIVES: This study aimed to evaluate the activity of the glymphatic system in systemic lupus erythematosus (SLE) by a diffusion-based method termed "Diffusion Tensor Image Analysis aLong the Perivascular Space (DTI-ALPS)", and examined its correlations with morphological changes in the brain. METHODS: In this cross-sectional study, forty-five female patients with SLE and thirty healthy controls (HCs) were included. Voxel-based and surface-based morphometric analyses were performed to examine T1 weighted images, and diffusion tensor images were acquired to determine diffusivity along the x-, y-, and z-axes in the plane of the lateral ventricle body. The ALPS-index was calculated. The differences in values between SLE patients and HC group were compared using the independent samples t test or Mann-Whitney U test. For the correlations between the ALPS-index and brain morphological parameters, partial correlation analysis and Pearson's correlation analysis were conducted. RESULTS: SLE patients showed lower values for the ALPS-index in left (1.543 ± 0.141 vs 1.713 ± 0.175, p < 0.001), right (1.428 ± 0.142 vs 1.556 ± 0.139, p < 0.001) and whole (1.486 ± 0.121 vs 1.635 ± 0.139, p < 0.001) brain compared with the HC group. The reduced ALPS-index showed significant positive correlations with gray matter loss. CONCLUSION: The non-invasive ALPS-index could serve as a sensitive and effective neuroimaging biomarker for individually quantifying glymphatic activity in patients with SLE. Glymphatic system abnormality may be involved in the pathophysiologic mechanism underlying central nervous system damage in SLE patients.
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OBJECTIVE: Somatic variants in the ubiquitin-specific protease 8 (USP8) gene are the most common genetic cause of Cushing disease. We aimed to explore the relationship between clinical outcomes and USP8 status in a single centre. DESIGN, PATIENTS AND MEASUREMENTS: We investigated the USP8 status in 48 patients with pituitary corticotroph tumours. A median of 62 months of follow-up was conducted after surgery from November 2013 to January 2015. The clinical, biochemical and imaging features were collected and analysed. RESULTS: Seven USP8 variants (p.Ser718Pro, p.Ser719del, p.Pro720Arg, p.Pro720Gln, p.Ser718del, p.Ser718Phe, p.Lys713Arg) were identified in 24 patients (50%). USP8 variants showed a female predominance (100% vs. 75% in wild type [WT], p = .022). Patients with p.Ser719del showed an older age at surgery compared to patients with the p.Pro720Arg variant (47- vs. 24-year-olds, p = .033). Patients with p.Pro720Arg showed a higher rate of macroadenoma compared to patients harbouring the p.Ser718Pro variant (60% vs. 0%, p = .037). No significant differences were observed in serum and urinary cortisol and adrenocorticotropin hormone (ACTH) levels. Immediate surgical remission (79% vs. 75%) and long-term hormone remission (79% vs. 67%) were not significantly different between the two groups. The recurrence rate was 21% (4/19) in patients harbouring USP8 variants and 13% (2/16) in WT patients. Recurrence-free survival presented a tendency to be shorter in USP8-mutated individuals (76.7 vs. 109.2 months, p = .068). CONCLUSIONS: Somatic USP8 variants accounted for 50% of the genetic causes in this cohort with a significant female frequency. A long-term follow-up revealed a tendency toward shorter recurrence-free survival in USP8-mutant patients.
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Adenoma Hipofisário Secretor de ACT , Endopeptidases , Complexos Endossomais de Distribuição Requeridos para Transporte , Tumores Neuroendócrinos , Ubiquitina Tiolesterase , Humanos , Ubiquitina Tiolesterase/genética , Feminino , Masculino , Complexos Endossomais de Distribuição Requeridos para Transporte/genética , Pessoa de Meia-Idade , Adulto , Prognóstico , Adenoma Hipofisário Secretor de ACT/genética , Adenoma Hipofisário Secretor de ACT/patologia , Adenoma Hipofisário Secretor de ACT/cirurgia , Endopeptidases/genética , Tumores Neuroendócrinos/genética , Tumores Neuroendócrinos/patologia , Mutação , Adulto Jovem , Hormônio Adrenocorticotrópico/sangue , Idoso , AdolescenteRESUMO
OBJECTIVES: This study was aimed to quantitatively assess hyperperfusion using arterial spin labeling (ASL) to predict hemorrhagic transformation (HT) in acute ischemic stroke (AIS) patients. METHODS: This study enrolled 98 AIS patients with anterior circulation large vessel occlusion within 24 h of symptom onset. ASL was performed before mechanical endovascular therapy. On pre-treatment ASL maps, a region with relative cerebral blood flow (CBF) ≥ 1.4 was defined as an area of hyperperfusion. The maximum CBF (CBFmax) of hyperperfusion was calculated for each patient. A non-contrast CT scan was performed during the subacute phase for the evaluation of HT. Good clinical outcome was defined as a 90-day modified Rankin scale score of 0-2. RESULTS: The CBFmax of hyperperfusion (odds ratio, 1.023; 95% confidence interval [CI], 1.005-1.042; p = 0.012) was an independent risk factor for the status of HT. The CBFmax of hyperperfusion for HT showed an area under the curve of 0.735 (95% CI, 0.588-0.882) with optimal cutoff value, sensitivity, and specificity being 146.5 mL/100 g/min, 76.9%, and 69.6%, respectively. There was a statistically significant relationship between HT grades (from no HT to PH2) and CBFmax of hyperperfusion with a Spearman rank correlation of 0.446 (p = 0.001). In addition, low CBFmax of hyperperfusion were associated with good functional outcome (95% CI, 17.130-73.910; p = 0.002). CONCLUSIONS: High CBFmax of hyperperfusion was independently associated with subsequent HT and low CBFmax of hyperperfusion linked to good functional outcome. There was a positive correlation between HT grade and CBFmax. CLINICAL RELEVANCE STATEMENT: Arterial spin labeling is a noninvasive and contrast agent-independent technique, which is sensitive in detecting hyperperfusion. This study shows that the cerebral blood flow of hyperperfusion is associated with clinical prognosis, which will benefit more patients. KEY POINTS: ⢠Quantitative assessment of hyperperfusion using pre-treatment arterial spin labeling to predict hemorrhagic transformation and prognosis in acute ischemic stroke patients. ⢠The maximum cerebral blood flow of hyperperfusion was associated with hemorrhagic transformation and clinical prognosis and higher maximum cerebral blood flow of hyperperfusion was associated with higher grade hemorrhagic transformation. ⢠The maximum cerebral blood flow of hyperperfusion can predict hemorrhagic transformation which enables timely intervention to prevent parenchymal hematoma.
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Isquemia Encefálica , Procedimentos Endovasculares , AVC Isquêmico , Acidente Vascular Cerebral , Humanos , Acidente Vascular Cerebral/diagnóstico , AVC Isquêmico/complicações , Marcadores de Spin , Artérias , Circulação Cerebrovascular/fisiologia , Isquemia Encefálica/complicações , Isquemia Encefálica/diagnóstico por imagem , Isquemia Encefálica/terapiaRESUMO
BACKGROUND: Growth hormone (GH) positive pituitary neuroendocrine tumors do not always cause acromegaly. Approximately one-third of GH-positive pituitary tumors are classified as non-functioning pituitary tumors in clinical practice. They typically have GH and serum insulin-like growth factor 1 (IGF-1) levels in the reference range and no acromegaly-like symptoms. However, normal hormone levels might not exclude the underlying hypersecretion of GH. This is a rare and paradoxical case of pituitary tumor causing acromegaly-associated symptoms despite normal GH and IGF-1 levels. CASE PRESENTATION: We report a case of a 35-year-old woman with suspicious acromegaly-associated presentations, including facial changes, headache, oligomenorrhea, and new-onset diabetes mellitus and dyslipidemia. Imaging found a 19 × 12 × 8 mm pituitary tumor, but her serum IGF-1 was within the reference, and nadir GH was 0.7ng/ml after glucose load at diagnosis. A thickened skull base, increased uptake in cranial bones in bone scan, and elevated bone turnover markers indicated abnormal bone metabolism. We considered the pituitary tumor, possibly a rare subtype in subtle or clinically silent GH pituitary tumor, likely contributed to her discomforts. After the transsphenoidal surgery, the IGF-1 and nadir GH decreased immediately. A GH and prolactin-positive pituitary neuroendocrine tumor was confirmed in the histopathologic study. No tumor remnant was observed three months after the operation, and her discomforts, glucose, and bone metabolism were partially relieved. CONCLUSIONS: GH-positive pituitary neuroendocrine tumors with hormonal tests that do not meet the diagnostic criteria for acromegaly may also cause GH hypersecretion presentations. Patients with pituitary tumors and suspicious acromegaly symptoms may require more proactive treatment than non-functioning tumors of similar size and invasiveness.
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Acromegalia , Tumores Neuroendócrinos , Neoplasias Hipofisárias , Humanos , Feminino , Adulto , Acromegalia/diagnóstico , Acromegalia/complicações , Acromegalia/etiologia , Tumores Neuroendócrinos/complicações , Tumores Neuroendócrinos/diagnóstico , Tumores Neuroendócrinos/patologia , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/patologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/complicações , Adenoma Hipofisário Secretor de Hormônio do Crescimento/patologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/diagnóstico , Hormônio do Crescimento Humano/sangue , Hormônio do Crescimento Humano/metabolismo , Fator de Crescimento Insulin-Like I/metabolismo , Doenças Ósseas/etiologia , Doenças Ósseas/diagnóstico , Doenças Ósseas/patologiaRESUMO
CONTEXT: Somatostatin analogs are recommended for preoperative therapy in thyrotrophin secreting pituitary adenomas (TSHomas). Octreotide suppression test (OST) was designed to differentiate TSHomas with resistance to thyroid hormones, while its ability to test the sensitivity of SSA has not been fully studied. OBJECTIVE: To test the sensitivity of SSA in TSHomas with OST. PATIENTS: We collected 48 pathologically confirmed TSHoma patients with complete 72 h' data of OST into analysis. INTERVENTION: Octreotide suppression test. MAIN OUTCOME: Sensitivity timepoint and cutoff of OST. RESULTS: During the entire OST, the TSH descended maximally 89.07% (73.85%, 96.77%), while the FT3 and FT4 declined slowly [43.40% (37.80%, 54.44%) and 26.59% (19.01%, 33.13%), respectively]. The 24th hour was the timepoint wherein the stability occurs for TSH, and the 48th hour for FT3 and FT4 during OST. In the patients who received both short- and long-acting somatostatin analogs (SSA), the 24-h timepoint was the most predictive timepoint for the percentage of TSH decline (Spearman's rank correlation analysis, r = .571, p < .001), while the 72-h timepoint was optimal for predicting the magnitude of TSH decline (Spearman's rank correlation analysis, r = .438, p = .005). In the 24th timepoint, a positive correlation was also observed between TSH suppression rate and the percentage decrease and absolute value decrease of FT3 and FT4. Furthermore, in patients treated with long-acting SSA, the 72-h timepoint was optimal for predicting both the percentage (Spearman's rank correlation analysis, r = .587, p = .01) and magnitude (Spearman's rank correlation analysis, r = .474, p = .047) of TSH decline. The 24th hour was the optimal timepoint with 44.54% (50% of median value of TSH in 72-hOST) decrease of TSH being the observing cutoff. The adverse effect of OST was predominantly occurred in the gastrointestinal system and no severe event occurred during OST. Paradoxical response could occur in OST and it did not influence the effect of SSA as long as sensitivity was confirmed. A high level of hormonal control was achieved in the SSA-sensitive patients. CONCLUSION: OST can be used as an efficient tool to guide the adequate use of SSA.
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Adenoma , Antineoplásicos , Neoplasias Hipofisárias , Humanos , Octreotida/farmacologia , Octreotida/uso terapêutico , Neoplasias Hipofisárias/tratamento farmacológico , Tireotropina/uso terapêutico , Adenoma/tratamento farmacológico , Somatostatina/uso terapêuticoRESUMO
BACKGROUND: In patients with Cushing's disease, the preoperative identification of pituitary adenomas is crucial to treatment. However, increasing diagnostic accuracy remains an unresolved issue. PURPOSE: To evaluate the diagnostic accuracy and the impact of readers' experience regarding high-resolution contrast-enhanced magnetic resonance imaging (hrMRI) for identifying pituitary adenomas in comparison with conventional contrast-enhanced MRI (cMRI) and dynamic contrast-enhanced MRI (dMRI). STUDY TYPE: Retrospective. POPULATION: Sixty-five patients (median age, 39 years; interquartile range [IQR], 28-53 years; 60% females) with treatment-naïve Cushing's disease. FIELD STRENGTH/SEQUENCE: 3-T, seven fast spin echo sequences. ASSESSMENT: The diagnostic accuracies of identifying pituitary adenomas on cMRI, dMRI, combined cMRI and dMRI (cdMRI), and hrMRI were independently evaluated by six readers with three experience levels (high: >20 years, modest: 10-20 years, low: <10 years; two readers for each experience level). Readers were asked to localize the lesion, and measure its diameter on the sequence where identified. The reference standard was postoperative histopathology. The impact of readers' experience and interobserver agreement were assessed. Image quality was assessed using a 5-point Likert scale, including overall image quality, sharpness, and structural conspicuity. STATISTICAL TESTS: McNemar's test, Cochran's test, Wilcoxon signed-rank test, Mann-Whitney U test, and κ statistics for interobserver agreement. A P-value <0.05 was considered statistically significant. RESULTS: For identifying pituitary adenomas (median diameter, 5 mm; IQR, 4-5 mm), hrMRI had significantly higher sensitivity (87.7%-93.8%) than cMRI, dMRI, and cdMRI (52.3%-75.4%) for readers with different experience levels. The interobserver agreement was moderate (κ = 0.461-0.523). The sensitivity for hrMRI was comparable between readers with different experience levels (P = 0.371). All image quality scores on hrMRI were significantly higher than cMRI and dMRI (5.0 vs. 4.0). DATA CONCLUSION: For identifying pituitary adenomas in patients with treatment-naïve Cushing's disease, hrMRI may show high diagnostic accuracy and seems not to be affected by readers' experience. LEVEL OF EVIDENCE: 3 TECHNICAL EFFICACY: Stage 2.
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OBJECTIVE: This study was undertaken to characterize the blood-brain barrier (BBB) dysfunction in patients with new onset refractory status epilepticus (NORSE) using dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI). METHODS: This study included three groups of adult participants: patients with NORSE, encephalitis patients without status epilepticus (SE), and healthy subjects. These participants were retrospectively included from a prospective DCE-MRI database of neurocritically ill patients and healthy subjects. The BBB permeability (Ktrans) in the hippocampus, basal ganglia, thalamus, claustrum, periventricular white matter, and cerebellum were measured and compared between these three groups. RESULTS: A total of seven patients with NORSE, 14 encephalitis patients without SE, and nine healthy subjects were included in this study. Among seven patients with NORSE, only one had a definite etiology (autoimmune encephalitis), and the rest were cryptogenic. Etiology of encephalitis patients without SE included viral (n = 2), bacterial (n = 8), tuberculous (n = 1), cryptococcal (n = 1), and cryptic (n = 2) encephalitis. Of these 14 encephalitis patients without SE, three patients had seizures. Compared to healthy controls, NORSE patients had significantly increased Ktrans values in the hippocampus (.73 vs. .02 × 10-3 /min, p = .001) and basal ganglia (.61 vs. .003 × 10-3 /min, p = .007) and a trend in the thalamus (.24 vs. .08 × 10-3 /min, p = .017). Compared to encephalitis patients without SE, NORSE patients had significantly increased Ktrans values in the thalamus (.24 vs. .01 × 10-3 /min, p = .002) and basal ganglia (.61 vs. .004 × 10-3 /min, p = .013). SIGNIFICANCE: This exploratory study demonstrates that BBBs of NORSE patients were impaired diffusely, and BBB dysfunction in the basal ganglia and thalamus plays an important role in the pathophysiology of NORSE.
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Encefalite , Estado Epiléptico , Adulto , Humanos , Barreira Hematoencefálica/diagnóstico por imagem , Estudos Retrospectivos , Estudos Prospectivos , Estado Epiléptico/diagnóstico por imagem , Estado Epiléptico/etiologia , Encefalite/complicações , Imageamento por Ressonância MagnéticaRESUMO
INTRODUCTION: Idiopathic hypothalamic dysfunction (IHD) is a rare syndrome with heterogeneous clinical symptoms. This study aimed to systematically review the clinical features and potential treatment of IHD based on our case series and literature. METHODS: We analysed six recently diagnosed cases of IHD in Peking Union Medical College Hospital and conducted a systematic review of IHD case studies published before August 25, 2021, using the PubMed/Medline database. All 12 articles that met the definition of IHD and provided individual clinical data were reviewed. RESULTS: Of the 19 cases reviewed (13 from the literature and 6 from our centre), the median age at onset was 6 years. Obesity/weight gain (n = 14, 73.7%) and electrolyte abnormalities (n = 14, 73.7%) were the most common hypothalamic physiological dysfunction, followed by autonomic dysregulation (n = 13, 68.4%) and adipsia (n = 13, 68.4%). The most common initial symptom of young patients was obesity/weight gain, whereas the initial symptoms of the three adult patients were hypothalamic amenorrhoea, delayed sexual development, and polydipsia. 11 (57.9%) patients had obesity, and three of our patients were diagnosed with metabolic syndrome in late adolescence or early adulthood. Three of our cases diagnosed with growth hormone deficiency received growth hormone therapy, which exerted positive effects on growth promotion and weight stabilization. CONCLUSION: Although obesity/weight gain was the most common symptom of IHD, uncommon initial symptoms such as electrolyte abnormalities and sexual disorders also require attention, especially in patients with late childhood- or adult-onset IHD. Consistent monitoring of metabolic profiles is recommended. Positive effects of growth hormone replacement therapy on growth and weight were observed, but more extensive cohort studies are required to confirm its efficacy and safety.
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Doenças Hipotalâmicas , Obesidade , Adulto , Adolescente , Humanos , Criança , Aumento de Peso , Doenças Hipotalâmicas/diagnóstico , Hormônio do Crescimento , EletrólitosRESUMO
OBJECTIVES: To assess the diagnostic performance of high-resolution contrast-enhanced MRI (hrMRI) with three-dimensional (3D) fast spin echo (FSE) sequence by comparison with conventional contrast-enhanced MRI (cMRI) and dynamic contrast-enhanced MRI (dMRI) with 2D FSE sequence for identifying pituitary microadenomas. METHODS: This single-institutional retrospective study included 69 consecutive patients with Cushing's syndrome who underwent preoperative pituitary MRI, including cMRI, dMRI, and hrMRI, between January 2016 to December 2020. Reference standards were established by using all available imaging, clinical, surgical, and pathological resources. The diagnostic performance of cMRI, dMRI, and hrMRI for identifying pituitary microadenomas was independently evaluated by two experienced neuroradiologists. The area under the receiver operating characteristics curves (AUCs) were compared between protocols for each reader by using the DeLong test to assess the diagnostic performance for identifying pituitary microadenomas. The inter-observer agreement was assessed by using the κ analysis. RESULTS: The diagnostic performance of hrMRI (AUC, 0.95-0.97) was higher than cMRI (AUC, 0.74-0.75; p ≤ .002) and dMRI (AUC, 0.59-0.68; p ≤ .001) for identifying pituitary microadenomas. The sensitivity and specificity of hrMRI were 90-93% and 100%, respectively. There were 78% (18/23) to 82% (14/17) of the patients, who were misdiagnosed on cMRI and dMRI and correctly diagnosed on hrMRI. The inter-observer agreement for identifying pituitary microadenomas was moderate on cMRI (κ = 0.50), moderate on dMRI (κ = 0.57), and almost perfect on hrMRI (κ = 0.91), respectively. CONCLUSIONS: The hrMRI showed higher diagnostic performance than cMRI and dMRI for identifying pituitary microadenomas in patients with Cushing's syndrome. KEY POINTS: ⢠The diagnostic performance of hrMRI was higher than cMRI and dMRI for identifying pituitary microadenomas in Cushing's syndrome. ⢠About 80% of patients, who were misdiagnosed on cMRI and dMRI, were correctly diagnosed on hrMRI. ⢠The inter-observer agreement for identifying pituitary microadenomas was almost perfect on hrMRI.
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Adenoma , Síndrome de Cushing , Neoplasias Hipofisárias , Humanos , Síndrome de Cushing/diagnóstico por imagem , Estudos Retrospectivos , Adenoma/diagnóstico , Neoplasias Hipofisárias/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodosRESUMO
OBJECTIVES: The aim of this study was two-fold: (1) to develop and externally validate a multiparameter MR-based machine learning model to predict the pathological complete response (pCR) in locally advanced rectal cancer (LARC) patients after neoadjuvant chemoradiotherapy (nCRT), and (2) to compare different classifiers' discriminative performance for pCR prediction. METHODS: This retrospective study includes 151 LARC patients divided into internal (centre A, n = 100) and external validation set (centre B, n = 51). The clinical and MR radiomics features were derived to construct clinical, radiomics, and clinical-radiomics model. Random forest (RF), support vector machine (SVM), logistic regression (LR), K-nearest neighbor (KNN), naive Bayes (NB), and extreme gradient boosting (XGBoost) were used as classifiers. The predictive performance was assessed using the receiver operating characteristic (ROC) curve. RESULTS: Eleven radiomics and four clinical features were chosen as pCR-related signatures. In the radiomics model, the RF algorithm achieved 74.0% accuracy (an AUC of 0.863) and 84.4% (an AUC of 0.829) in the internal and external validation sets. In the clinical-radiomics model, RF algorithm exhibited high and stable predictive performance in the internal and external validation datasets with an AUC of 0.906 (87.3% sensitivity, 73.7% specificity, 76.0% accuracy) and 0.872 (77.3% sensitivity, 88.2% specificity, 86.3% accuracy), respectively. RF showed a better predictive performance than the other classifiers in the external validation datasets of three models. CONCLUSIONS: The multiparametric clinical-radiomics model combined with RF algorithm is optimal for predicting pCR in the internal and external sets, and might help improve clinical stratifying management of LARC patients. KEY POINTS: ⢠A two-centre study showed that radiomics analysis of pre- and post-nCRT multiparameter MR images could predict pCR in patients with LARC. ⢠The combined model was superior to the clinical and radiomics model in predicting pCR in locally advanced rectal cancer. ⢠The RF classifier performed best in the current study.
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Neoplasias Retais , Humanos , Estudos Retrospectivos , Neoplasias Retais/diagnóstico por imagem , Neoplasias Retais/terapia , Neoplasias Retais/patologia , Imageamento por Ressonância Magnética , Teorema de Bayes , Reto/patologiaRESUMO
OBJECTIVES: To evaluate amide proton transfer-weighted (APTw)-derived whole-tumor histogram analysis parameters in predicting pathological extramural venous invasion (pEMVI) positive status of rectal adenocarcinoma (RA). METHODS: Preoperative MR including APTw imaging of 125 patients with RA (mean 61.4 ± 11.6 years) were retrospectively analyzed. Two radiologists reviewed each case's EMVI status based on the MR-based modified 5-point scale system with conventional MR images. The APTw histogram parameters of primary tumors were obtained automatically using whole-tumor volume histogram analysis. The independent risk factors markedly correlated with pEMVI-positive status were assessed using univariate and multivariate logistic regression analyses. Diagnosis performance was assessed by receiver operating characteristic curve (ROC) analysis. The AUCs were compared using the Delong method. RESULTS: Univariate analysis demonstrated that MR-tumor (T) stage, MR-lymph node (N) stage, APTw-10%, APTw-90%, interquartile range, APTw-minimum, APTw-maximum, APTw-mean, APTw-median, entropy, kurtosis, mean absolute deviation (MAD), and robust MAD were significantly related to pEMVI-positive status (all p < 0.05). Multivariate analysis demonstrated that MR-T stage (OR = 4.864, p = 0.018), MR-N stage (OR = 4.967, p = 0.029), interquartile range (OR = 0.892, p = 0.037), APT-minimum (OR = 1.046, p = 0.031), entropy (OR = 11.604, p = 0.006), and kurtosis (OR = 1.505, p = 0.007) were the independent risk factors enabling prediction of pEMVI-positive status. The AUCs for diagnostic ability of conventional MRI assessment, the APTw histogram model, and the combined model (including APTw histogram and clinical variables) were 0.785, 0.853, and 0.918, respectively. The combined model outperformed the APTw histogram model (p = 0.013) and the conventional MRI assessment (p = 0.006). CONCLUSIONS: Whole-tumor histogram analysis of APTw images combined with clinical factors showed better diagnosis efficiency in predicting EMVI involvement in RA. KEY POINTS: ⢠Rectal adenocarcinomas with pEMVI-positive status are typically associated with higher APTw-SI values. ⢠APTw-minimum, interquartile range, entropy, kurtosis, MR-T stage, and MR-N stage are the independent risk factors for EMVI involvement. ⢠The best prediction for EMVI involvement was obtained with a combined model of APTw histogram and clinical variables (area under the curve, 0.918).
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Adenocarcinoma , Neoplasias Retais , Humanos , Prótons , Amidas , Carga Tumoral , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos , Neoplasias Retais/diagnóstico por imagem , Neoplasias Retais/patologia , Adenocarcinoma/diagnóstico por imagem , Adenocarcinoma/patologiaRESUMO
BACKGROUND: Pregnancy in acromegaly is uncommon and still in debate for fear of tumor progression or potential threat to both mother and fetus's health. Besides, the data for pregnancy complications in uncontrolled acromegaly is limited. Thus, the objective of this study was to summarize pregnancy safety and disease courses after pregnancy in acromegalic patients and review their clinical characteristics based on disease activity in the literature. METHODS: An evaluation of eight acromegalic women from Peking Union Medical College Hospital (PUMCH) with 11 pregnancies was conducted. We also summarized a literature review of 82 disease-active pregnancies and 63 disease-controlled pregnancies with acromegaly. A second analysis was conducted to compare pregnancy courses and outcomes in different disease activities. RESULTS: Before pregnancy, all patients had macroadenomas and underwent pituitary surgery. Pregnancy occurred at a median of 6 years (4-10) after the diagnosis of acromegaly. Assisted reproductive therapy was needed in 42.9% of participants. No cases had a premature birth or congenital malformations. Biochemical control was achieved in 50% of females before pregnancy and 75% at the last follow-up after delivery. Data analysis showed no differences in the prevalence of gestational diabetes mellitus (GDM) or pregnancy-induced hypertension (PIH) between acromegaly-active or acromegaly-controlled groups. The GDM prevalence in patients diagnosed during pregnancy (33.3%) was higher than that in patients diagnosed before pregnancy (4.8%) (p = 0.001). CONCLUSION: Pregnancy without biochemical control in acromegaly and receiving medical treatment during pregnancy are not rare and generally safe for the fetus. There could be a higher prevalence of PIH in acromegalic pregnancies. The treatment of acromegaly and related complications can be managed with regular follow-up after pregnancy.
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Acromegalia , Diabetes Gestacional , Gravidez , Humanos , Feminino , Lactente , Acromegalia/complicações , Acromegalia/epidemiologia , China/epidemiologia , Família , Análise de Dados , Diabetes Gestacional/epidemiologiaRESUMO
BACKGROUND AND OBJECTIVE: Insomnia is one of the common problems encountered in the hemodialysis (HD) population, but the mechanisms remain unclear. we aimed to (1) detect the spontaneous brain activity pattern in HD patients with insomnia (HDWI) by using fractional fractional amplitude of low frequency fluctuation (fALFF) method and (2) further identify brain regions showing altered fALFF as neural markers to discriminate HDWI patients from those on hemodialysis but without insomnia (HDWoI) and healthy controls (HCs). METHOD: We compared fALFF differences among HDWI subjects (28), HDWoI subjects (28) and HCs (28), and extracted altered fALFF features for the subsequent discriminative analysis. Then, we constructed a support vector machine (SVM) classifier to identify distinct neuroimaging markers for HDWI. RESULTS: Compared with HCs, both HDWI and HDWoI patients exhibited significantly decreased fALFF in the bilateral calcarine (CAL), right middle occipital gyrus (MOG), left precentral gyrus (PreCG), bilateral postcentral gyrus (PoCG) and bilateral temporal middle gyrus (TMG), whereas increased fALFF in the bilateral cerebellum and right insula. Conversely, increased fALFF in the bilateral CAL/right MOG and decreased fALFF in the right cerebellum was observed in HDWI patients when compared with HDWoI patients. Moreover, the SVM classification achieved a good performance [accuracy = 82.14%, area under the curve (AUC) = 0.8202], and the consensus brain regions with the highest contributions to classification were located in the right MOG and right cerebellum. CONCLUSION: Our result highlights that HDWI patients had abnormal neural activities in the right MOG and right cerebellum, which might be potential neural markers for distinguishing HDWI patients from non-insomniacs, providing further support for the pathological mechanism of HDWI.
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Imageamento por Ressonância Magnética , Distúrbios do Início e da Manutenção do Sono , Humanos , Imageamento por Ressonância Magnética/métodos , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Distúrbios do Início e da Manutenção do Sono/diagnóstico por imagem , Mapeamento Encefálico/métodos , NeuroimagemRESUMO
OBJECTIVES: The study aimed to investigate the diagnostic performance of intravoxel incoherent motion (IVIM) diffusion-weighted magnetic resonance imaging for prediction of microvascular invasion (MVI) in hepatocellular carcinoma (HCC) using convolutional neural networks (CNNs). METHODS: This retrospective study included 114 patients with pathologically confirmed HCC from December 2014 to August 2021. All patients underwent MRI examination including IVIM sequence with 9 b-values preoperatively. First, 9 b-value images were superimposed in the channel dimension, and a b-value volume with a shape of 32 × 32 × 9 dimension was obtained. Secondly, an image resampling method was performed for data augmentation to generate more samples for training. Finally, deep features to predict MVI in HCC were directly derived from a b-value volume based on the CNN. Moreover, a deep learning model based on parameter maps and a fusion model combined with deep features of IVIM, clinical characteristics, and IVIM parameters were also constructed. Receiver operating characteristic (ROC) curve analysis was performed to assess the diagnostic performance for MVI prediction in HCC. RESULTS: Deep features directly extracted from IVIM-DWI (0.810 (range 0.760, 0.829)) using CNN yielded better performance for prediction of MVI than those from IVIM parameter maps (0.590 (range 0.555, 0.643)). Furthermore, the performance of the fusion model combined with deep features of IVIM-DWI, clinical features (α-fetoprotein (AFP) level and tumor size), and apparent diffusion coefficient (ADC) (0.829 (range 0.776, 0.848)) was slightly improved. CONCLUSIONS: Deep learning with CNN based on IVIM-DWI can be conducive to preoperative prediction of MVI in patients with HCC. KEY POINTS: ⢠Deep learning assessment of IVIM data for prediction of MVI in HCC can overcome the unstable and low performance of IVIM parameters. ⢠Deep learning model based on IVIM performs better than parameter values, clinical features, and deep learning model based on parameter maps. ⢠The fusion model combined with deep features of IVIM, clinical characteristics, and ADC yields better performance for prediction of MVI than the model only based on IVIM.
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Carcinoma Hepatocelular , Neoplasias Hepáticas , Carcinoma Hepatocelular/patologia , Imagem de Difusão por Ressonância Magnética/métodos , Humanos , Neoplasias Hepáticas/patologia , Redes Neurais de Computação , Estudos RetrospectivosRESUMO
BACKGROUND: The differential diagnosis of IgG4-related hypophysitis and other inflammatory diseases or tumors involving sellar region is challenging even after sellar biopsy. Sellar germinoma is usually infiltrated by lymphocytes or plasma cells, and may be confused with hypophysitis. CASE PRESENTATION: A 36-year-old man with diabetes insipidus, elevated serum IgG4 level (336 mg/dl), and sellar mass was suspected to have IgG4-related hypophysitis, and no other lesion of IgG4-related disease was detected. After treated by prednisone and mycophenolate mofetil, the serum IgG4 decreased to 214 mg/dl. However, after withdrawal of the drugs, the IgG4 level increased to 308 mg/dl. Endocrine assessments revealed panhypopituitarism, and the sellar mass enlarged. Transsphenoidal sellar exploration and biopsy was conducted. Pathological examination showed that the lesion was germinoma with lymphocytes and plasma cells infiltration, and IgG4-staining was positive (70/HPF, IgG4/IgG ratio = 10%). The patient was then treated by cisplatin and etoposide. After four cycles of chemotherapy, the serum IgG4 was 201 mg/dl, and the sellar mass was invisible. CONCLUSION: Sellar germinoma can mimic the clinical characteristics of IgG4-related hypophysitis. Poor response to glucocorticoids can be used as an exclusion criterion in the clinical diagnosis of IgG4-related hypophysitis.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias Encefálicas/diagnóstico , Germinoma/diagnóstico , Sela Túrcica , Adulto , Hipofisite Autoimune/diagnóstico , Neoplasias Encefálicas/tratamento farmacológico , Cisplatino/administração & dosagem , Diagnóstico Diferencial , Etoposídeo/administração & dosagem , Germinoma/tratamento farmacológico , Humanos , Imunoglobulina G/sangue , MasculinoRESUMO
PURPOSE: To summary the clinical features of premenopausal women with functioning gonadotroph adenomas (FGAs) and preliminarily explore their molecular characterization. METHODS: 12 premenopausal females with FGAs in our center were retrospectively analyzed. Previously reported cases were also summarized. The patients were clinically divided into FSH- or LH-predominant types according to their preoperative serum FSH/LH ratio. The expressions of related genes in the tumor tissues of female FGAs, non-functioning gonadotroph adenomas (NFGAs), and silent corticotropin adenomas were evaluated by RT-qPCR. RESULTS: Of all the 12 patients with FGAs from our center, 11 (91.7%) were diagnosed as FSH-predominant type, and they all had menstrual disorders, including 9 with spontaneous ovarian hyperstimulation syndrome (sOHSS). Their hormonal profiles showed non-suppressed FSH (12.45 ± 7.34 IU/L) with hyperestrogenemia [median estradiol level 1353.0 pg/mL (636.0, 3535.0)]. The other patient (8.3%) with LH-predominant type mainly manifested with infertility and sustained elevated serum LH without FSH or estradiol increasing. 65 premenopausal FGAs patients were systematic reviewed. 60 patients (92.3%) were FSH-predominant type, including 86.7% presented with menstrual disorders, 16.7% reported infertility, and 98.2% (55/56) showed sOHSS. No sOHSS or hyperestrogenemia were found in the 5 patients (7.7%) with LH-predominant type. Pituitary imaging data revealed macroadenomas and microadenomas accounted for 89.2% and 10.8%, respectively. Of 63 patients (96.9%) who underwent pituitary adenoma resection, 77.8% had complete tumor resection and no recurrence at the last follow-up. The relative expressions of KISS1 mRNA were significantly higher in FGA group than in NFGA group (p = 0.018), and significantly positively correlated with the preoperative serum estradiol levels (p = 0.004). CONCLUSIONS: Different clinical features were observed in premenopausal women with FGAs of FSH- or LH-predominant types. The elevated KISS1 expression in tumor tissues might involve in the secretion function of FGAs.
Assuntos
Adenoma , Gonadotrofos , Infertilidade , Neoplasias Hipofisárias , Adenoma/patologia , Estradiol/metabolismo , Feminino , Hormônio Foliculoestimulante/metabolismo , Gonadotrofos/metabolismo , Gonadotrofos/patologia , Humanos , Infertilidade/metabolismo , Infertilidade/patologia , Kisspeptinas/metabolismo , Hormônio Luteinizante/metabolismo , Neoplasias Hipofisárias/patologia , Estudos RetrospectivosRESUMO
BACKGROUND: Functional gonadotroph adenomas (FGAs) are rare adenomas that most commonly secrete FSH. However, solitary LH-secreting pituitary adenomas are unusual. CASE PRESENTATION: A 30-year-old woman with elevated LH and normal FSH presented with inability to conceive. An MRI revealed an enlarged sella turcica and an intrasellar mass. Treatment with transsphenoidal resection led to normalization of LH and estradiol, as well as successful pregnancy. And we reviewed 6 cases of LH-secreting pituitary adenomas from 1981 to 2020. CONCLUSIONS: Our case is unique because of the LH-secreting pituitary adenoma without FSH hypersecretion. This case indicates that pituitary adenoma should be considered when other diseases causing infertility have been excluded.
Assuntos
Adenoma/metabolismo , Adenoma/cirurgia , Infertilidade Feminina/etiologia , Infertilidade Feminina/cirurgia , Hormônio Luteinizante/metabolismo , Neoplasias Hipofisárias/metabolismo , Neoplasias Hipofisárias/cirurgia , Adenoma/diagnóstico por imagem , Adulto , Feminino , Hormônio Foliculoestimulante/metabolismo , Humanos , Imageamento por Ressonância Magnética , Neoplasias Hipofisárias/diagnóstico por imagem , Gravidez , Resultado da Gravidez , Sela Túrcica/diagnóstico por imagemRESUMO
PURPOSE: Silent corticotroph adenomas (SCAs) can be redefined according to the 2017 World Health Organization pituitary classification system with the introduction of TPIT, a transcription factor. We studied the clinical features of these redefined SCAs. METHODS: We compared 112 patients with SCAs and 198 patients with silent gonadotroph adenomas (SGAs) who underwent surgery from January 2019 to May 2020. RESULTS: The prevalence of SCAs increased from 21.3 to 30.2% under the new classification rules. T-PIT-positive, adrenocorticotropic hormone-negative SCAs and T-PIT-positive, adrenocorticotropic hormone-positive SCAs exhibited similar clinical features. SCAs exhibited significant female preponderance (90.2% vs. 29.8%, P < 0.0001); more frequent invasion (36.6% vs. 7.6%, P < 0.0001), especially multiple-site invasion (P < 0.0001); and marked cystic changes on imaging compared with SGAs (54.5% vs. 19.2%, P < 0.0001). SCAs had a softer tumor consistency (89.2% vs. 61.1%, P < 0.0001). Gross total resection was achieved in 66.1% of SCAs and 66.2% of SGAs (P > 0.9999). The overall recurrence/progression rates of SCAs and SGAs were 9.8% and 6.6% at 14.1 and 13.5 months of follow-up, respectively (P = 0.3765). The proportion of patients with more than two recurrences requiring multiple surgeries and radiation was similar between SCAs and SGAs (7.1% vs. 3.0%, P = 0.1514). However, multiple recurrences of SCAs affected younger patients than SGAs (39.0 vs. 53.5 years, P = 0.0433). CONCLUSIONS: The prevalence of SCAs increased with the introduction of T-PIT. SCAs and SGAs exhibited comparable size and recurrence/progression rates, but SCAs showed increased invasion and more marked cystic change. Aggressive SCAs tended to affect younger patients. Close long-term monitoring for SCA recurrence/progression is required.
Assuntos
Adenoma Hipofisário Secretor de ACT , Adenoma Hipofisário Secretor de ACT/cirurgia , Hormônio Adrenocorticotrópico/metabolismo , Feminino , Gonadotrofos/metabolismo , Humanos , Recidiva , Organização Mundial da SaúdeRESUMO
Plasmacytoma is a malignant tumor originating from the plasma cells of the bone marrow. Those discovered after a head injury is rare. We report a case of a 48-year-old female who complained of scalp mass without other symptoms after head injury. Meningioma was considered preoperatively based on imaging findings, and surgical resection was performed. Postoperatively, multiple myeloma complicated by skull plasmacytoma was diagnosed by histopathology and systematic examinations in succession. When evaluating a head mass that appeared after a head injury, plasmacytoma should be considered at times. Osteolytic changes and biconvex form on imaging are beneficial to differentiation.
Assuntos
Traumatismos Craniocerebrais/diagnóstico , Mieloma Múltiplo/diagnóstico , Plasmocitoma/diagnóstico , Neoplasias Cranianas/diagnóstico , Traumatismos Craniocerebrais/complicações , Traumatismos Craniocerebrais/patologia , Traumatismos Craniocerebrais/cirurgia , Feminino , Humanos , Pessoa de Meia-Idade , Mieloma Múltiplo/etiologia , Mieloma Múltiplo/patologia , Mieloma Múltiplo/cirurgia , Plasmocitoma/etiologia , Plasmocitoma/patologia , Plasmocitoma/cirurgia , Neoplasias Cranianas/etiologia , Neoplasias Cranianas/patologia , Neoplasias Cranianas/cirurgiaRESUMO
BACKGROUND: Deep learning has the potential to assist the medical diagnostic process. We aimed to identify facial anomalies associated with endocrinal disorders using a deep-learning approach to facilitate the process of diagnosis and follow-up. METHODS: We collected facial images of patients with hypercortisolism and acromegaly, and we augmented these images with additional negative samples from public databases. A model with a pretrained deep-learning network was constructed to automatically identify these hypersecretion statuses based on characteristic facial changes. We compared its performance to that of endocrine experts and further investigated key factors upon which the best performing model focused. FINDINGS: The model achieved areas under the receiver operating characteristic curve of 0.9647 (Cushing's syndrome) and 0.9556 (acromegaly), accuracies of 0.9593 (Cushing's syndrome) and 0.9479 (acromegaly), and recalls of 0.7593 (Cushing's syndrome) and 0.8089 (acromegaly). It performed better than any level of our endocrine experts. Furthermore, the regions of interest on the part of the machine were primarily the same as those upon which the humans focused. INTERPRETATION: Our findings suggest that the deep-learning model learned the facial characters based merely on labeled data without learning prerequisite medical knowledge, and its performance was comparable with professional medical practitioners. The model has the potential to assist in the diagnosis and follow-up of these hypersecretion statuses.