RESUMEN
BACKGROUND: The reportedly high mutation rate of mitochondrial DNA (mtDNA) may be attributed to the absence of histone protection and complete repair mechanisms. Mitochondrial heteroplasmy refers to the coexistence of wild-type and mutant mtDNA. Most healthy individuals carry a low point mutation load (<1 %) in their mtDNA, typically without any discernible phenotypic effects. However, as it exceeds a certain threshold, it may cause the onset of various diseases. Since the ovary is a highly energy-intensive organ, it relies heavily on mitochondrial function. Mitochondrial heteroplasmy can potentially contribute to a variety of significant ovarian disorders. AIM OF REVIEW: In this review, we have elucidated the close relationship between mtDNA heteroplasmy and ovarian diseases, and summarized novel avenues and strategies for the potential treatment of these ovarian diseases. KEY SCIENTIFIC CONCEPTS OF REVIEW: Mitochondrial heteroplasmy can potentially contribute to a variety of significant ovarian disorders, including polycystic ovary syndrome, premature ovarian insufficiency, and endometriosis. Current strategies related to mitochondrial heteroplasmy are untargeted and have low bioavailability. Nanoparticle delivery systems loaded with mitochondrial modulators, mitochondrial replacement/transplantation therapy, and mitochondria-targeted gene editing therapy may offer promising paths towards potentially more effective treatments for these diseases, despite ongoing challenges.
RESUMEN
RATIONALE AND OBJECTIVES: Preoperative prediction of the recurrence risk in patients with advanced sinonasal squamous cell carcinoma (SNSCC) is critical for individualized treatment. To evaluate the predictive ability of radiomics signature (RS) based on deep learning and multiparametric MRI for the risk of 2-year recurrence in advanced SNSCC. MATERIALS AND METHODS: Preoperative MRI datasets were retrospectively collected from 265 SNSCC patients (145 recurrences) who underwent preoperative MRI, including T2-weighted (T2W), contrast-enhanced T1-weighted (T1c) sequences and diffusion-weighted (DW). All patients were divided into 165 training cohort and 70 test cohort. A deep learning segmentation model based on VB-Net was used to segment regions of interest (ROIs) for preoperative MRI and radiomics features were extracted from automatically segmented ROIs. Least absolute shrinkage and selection operator (LASSO) and logistic regression (LR) were applied for feature selection and radiomics score construction. Combined with meaningful clinicopathological predictors, a nomogram was developed and its performance was evaluated. In addition, X-title software was used to divide patients into high-risk or low-risk early relapse (ER) subgroups. Recurrence-free survival probability (RFS) was assessed for each subgroup. RESULTS: The radiomics score, T stage, histological grade and Ki-67 predictors were independent predictors. The segmentation models of T2WI, T1c, and apparent diffusion coefficient (ADC) sequences achieved Dice coefficients of 0.720, 0.727, and 0.756, respectively, in the test cohort. RS-T2, RS-T1c and RS-ADC were derived from single-parameter MRI. RS-Combined (combined with T2WI, T1c, and ADC features) was derived from multiparametric MRI and reached area under curve (AUC) and accuracy of 0.854 (0.749-0.927) and 74.3% (0.624-0.840), respectively, in the test cohort. The calibration curve and decision curve analysis (DCA) illustrate its value in clinical practice. Kaplan-Meier analysis showed that the 2-year RFS rate for low-risk patients was significantly greater than that for high-risk patients in both the training and testing cohorts (p < 0.001). CONCLUSION: Automated nomograms based on multi-sequence MRI help to predict ER in SNSCC patients preoperatively.
Asunto(s)
Aprendizaje Profundo , Neoplasias de Cabeza y Cuello , Imágenes de Resonancia Magnética Multiparamétrica , Humanos , Nomogramas , Estudios Retrospectivos , Imagen por Resonancia Magnética , Carcinoma de Células Escamosas de Cabeza y CuelloRESUMEN
OBJECTIVE: To investigate the vestibular endolymphatic hydrops in patients with semicircular canal malformation. METHODS: We searched 7864 patients who underwent MR Imaging after contrast injection and found 21 patients with semicircular canal malformations. Another 9 non-malformed patients with unilateral hearing loss were randomly included. We asked patients about their medical history and measured the volume of total vestibular fluid space and endolymphatic space. The vestibular volume ratio = endolymphatic space/total fluid space × 100. RESULTS: Hearing loss was observed in 18 of 30 malformed ears and in 7 of 12 non-malformed ears. Statistical analysis showed no association between semicircular canal malformation and hearing loss. In the semicircular canal malformation group, the average vestibular volume ratio (22.6%) in the ears with hearing loss was higher than that in the ears without hearing loss (11.4%). There was no statistically significant difference in the average vestibular %EL in ears with hearing loss between the malformed inner ear group (22.6%) and non-malformed group (28.2%) (P>0.05). CONCLUSION: There was no correlation between semicircular canal malformation and hearing loss. The mean vestibular hydrops volume ratio of the semicircular canal deformed ears with hearing loss was about 22.6%, which was not different from that of normal ears.
Asunto(s)
Sordera , Hidropesía Endolinfática , Pérdida Auditiva Sensorineural , Vestíbulo del Laberinto , Humanos , Canales Semicirculares/diagnóstico por imagen , Canales Semicirculares/anomalías , Vestíbulo del Laberinto/diagnóstico por imagen , Hidropesía Endolinfática/complicaciones , Hidropesía Endolinfática/diagnóstico por imagen , Edema , Imagen por Resonancia Magnética/métodosRESUMEN
BACKGROUND: Ovarian steroid cell tumors (SCTs), not otherwise specified (NOS), are rare, with few large studies. The purpose of this study was to analyze the clinical features, prognosis, and treatment choices for these patients of different age groups. METHODS: This was a retrospective study. We identified nine cases of ovarian steroid cell tumor, not otherwise specified, confirmed by post-operative histopathological examination, and analyzed clinical features, surgical procedures, and follow up outcomes. We also reviewed cases reports of ovarian steroid cell tumors, not otherwise specified. RESULTS: A total of nine cases were included. The age range was 9-68 years (mean, 41.89 ± 19.72 years). Clinical features included virilization, amenorrhea, abdominal pain, vaginal bleeding, isosexual precocious puberty, Cushing's syndrome, and abnormal weight gain with elevated testosterone levels. The follow up interval ranged 5-53 months and no recurrence was observed. CONCLUSION: Ovarian steroid cell tumors covered all age groups, with manifestations of androgen excess. Younger patients appeared to have a more favorable prognosis, which provided more opportunities for these patients to pursue treatment options that will preserve reproductive function.
Asunto(s)
Neoplasias Ováricas , Tumores de los Cordones Sexuales y Estroma de las Gónadas , Femenino , Humanos , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Estudios Retrospectivos , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patología , Neoplasias Ováricas/patología , Virilismo , EsteroidesRESUMEN
BACKGROUND: Patients with Meniere's disease (MD) receive treatment to reduce vertigo. PURPOSE: To explore the fluctuation of vertigo symptoms and the changes in endolymphatic hydrops (EHs) in MD patients during long-term regular medication. MATERIALS AND METHODS: We enrolled MD patients who had received two magnetic resonance imaging with intravenous contrast agents. RESULTS: Of the 42 patients in the study, 18(42.9%) had progressive EHs and 3(7.1%) had remission. The change value of the signal intensity ratio (SIR; cochlear perilymph/cerebellum) on the affected side (1.2) was larger than that on the healthy side (0.9), but there was no statistical difference. Among the 30 patients followed up, two patients had complete control of vertigo, two patients had substantial control, and three patients had worse control. The other 23 patients had insignificant control of vertigo symptoms before and after treatment. The correlation between the progression of cochlear and vestibular hydrops and the improvement of vertigo symptoms in MD patients was not significant. CONCLUSIONS AND SIGNIFICANCE: In treated patients with MD, EHs may progress or relieve over the long course of the disease. But there was no correlation between the development of EHs and changes in vertigo symptoms.
Asunto(s)
Hidropesía Endolinfática , Enfermedad de Meniere , Vestíbulo del Laberinto , Humanos , Enfermedad de Meniere/complicaciones , Enfermedad de Meniere/terapia , Enfermedad de Meniere/patología , Hidropesía Endolinfática/complicaciones , Hidropesía Endolinfática/diagnóstico por imagen , Hidropesía Endolinfática/terapia , Vértigo/etiología , Vértigo/terapia , Vestíbulo del Laberinto/patología , Cóclea/patología , Mareo , Imagen por Resonancia Magnética/métodosRESUMEN
BACKGROUND: Diffusion-weighted imaging (DWI) has become an important tool for the detection of cholesteatoma. The purpose of this study was to explore the value of 2D BLADE turbo gradient- and spin-echo imaging (TGSE BLADE) DWI in the quantitative diagnosis of recurrent temporal bone cholesteatoma (CS). METHODS: From March 2018 to October 2021, 67 patients with suspected recurrence of temporal bone CS after assessment by clinical otorhinolaryngologists who had undergone previous ear surgery for CS were prospectively evaluated by magnetic resonance imaging (MRI). Two radiologist assessed images independently. Quantitative parameters such as signal intensity ratio (SIR) calculated using, as a reference, the inferior temporal cortex (SIRT) and the background noise (SIRN), apparent diffusion coefficient (ADC) value, and ADC ratio (with pons as reference) measured on TGSE BLADE sequences were assessed. Using receiver operating characteristic (ROC) curve analysis, the optimal threshold and diagnostic performance for diagnosing recurrent CS were determined. Pair-wise comparison of the ROC curves was performed using the area under the ROC curve (AUC). RESULTS: Finally, 44 patients were included in this study, including 25 CS and 19 non-cholesteatoma (NCS). Mean SIRT and mean SIRN on TGSE BLADE DWI were significantly higher for CS than NCS lesions (p < 0.001). Meanwhile, mean ADC values and mean ADC ratios on ADC maps were significantly lower in the CS group than in the NCS group (p < 0.001). According to ROC analysis, the diagnostic efficacy of quantitative parameters such as SIRT (AUC = 0.967), SIRN (AUC = 0.979), ADC value (AUC = 1.0), and ADC ratio (AUC = 0.983) was significantly better than that of qualitative DWI (AUC = 0.867; p = 0.007, 0.009, 0.011 and 0.037, respectively). CONCLUSIONS: Residual/recurrent temporal bone CS can be accurately detected using quantitative evaluation of TGSE BLADE DWI.
Asunto(s)
Imagen de Difusión por Resonancia Magnética , Humanos , Imagen de Difusión por Resonancia Magnética/métodos , Imagen por Resonancia Magnética , Curva ROC , Sensibilidad y Especificidad , Hueso Temporal/diagnóstico por imagenRESUMEN
OBJECTIVES: This study aims to explore how patients' hearing loss developed with the progression of endolymphatic hydrops and the characteristics of hearing loss at different stages. MATERIALS AND METHODS: We collected 73 patients with definite or possible unilateral Meniere's disease or sudden hearing loss who underwent magnetic resonance imaging after intravenous contrast agent injection. There were 25 cases of isolated cochlear hydrops, 24 cases of isolated vestibular hydrops, and 24 cases of cochlear and vestibular hydrops. Primary outcome analyses included their evaluation of endolymphatic hydrops and hearing thresholds at low and high frequencies. RESULTS: The overall hearing threshold of patients with vestibular and cochlear hydrops was significantly higher than that of patients with isolated cochlear hydrops and patients with isolated vestibular hydrops. There was a significant correlation between low-frequency hearing loss and cochlear hydrops, and the low-frequency hearing threshold was proportional to the grade of cochlear hydrops. At low frequency, the hearing threshold of patients with isolated vestibular hydrops was lower than that of patients with isolated cochlear hydrops and patients with both cochlear and vestibular hydrops. The audiogram configurations of patients with isolated cochlear hydrops consist largely of flat type and up-sloping type. The audiogram configurations of patients with isolated vestibular hydrops and patients with both cochlear and vestibular hydrops are mainly flat type and down-sloping type. CONCLUSIONS: Patients present with low-frequency hearing loss in the early stage of endolymphatic hydrops. When the hydrops involves the whole cochlea and vestibule, the patients' hearing is impaired at both low and high frequencies.
RESUMEN
Purpose: To develop and validate a nomogram model combining radiomic features and clinical characteristics to preoperatively predict the risk of early relapse (ER) in advanced sinonasal squamous cell carcinomas (SNSCCs). Methods: A total of 152 SNSCC patients (clinical stage III-IV) who underwent diffusion-weighted imaging (DWI) were included in this study. The training cohort included 106 patients assessed at the headquarters of our hospital using MR scanner 1. The testing cohort included 46 patients assessed at the branch of our hospital using MR scanner 2. Least absolute shrinkage and selection operator (LASSO) regression was applied for feature selection and radiomic signature (radscore) construction. Multivariable logistic regression analysis was applied to identify independent predictors. The performance of the model was evaluated using the area under the receiver operating characteristic curve (AUC), calibration curve and decision curve analysis (DCA). Furthermore, the patients were classified into high- or low-risk ER subgroups according to the optimal cutoff value of the nomogram using X-tile. The recurrence-free survival probability (RFS) of each subgroup was assessed. Results: ER was noted in 69 patients. The radscore included 8 selected radiomic features. The radscore, T stage and surgical margin were independent predictors. The nomogram showed better performance (AUC = 0.92) than either the radscore or the clinical factors in the training cohort (P < 0.050). In the testing cohort, the nomogram showed better performance (AUC = 0.92) than the clinical factors (P = 0.016) and tended to show better performance than the radscore (P = 0.177). The nomogram demonstrated good calibration and clinical utility. Kaplan-Meier analysis showed that the 2-year RFS rate for low-risk patients was significantly greater than that for high-risk patients in both the training and testing cohorts (P < 0.001). Conclusions: The ADC-based radiomic nomogram model is potentially useful in predicting the risk of ER in advanced SNSCCs.
RESUMEN
OBJECTIVE: The aim of the study was to explore the value of T2-sampling perfection with application-optimized contrasts by using different flip angle evolutions (T2-SPACE) in identifying space-occupying lesions of the inner ear. METHODS: We collected the T2-SPACE and 3-dimensional inversion-recovery sequence with real reconstruction (3D-real IR) images of 220 patients with inner ear symptoms, including 15 patients with inner ear space-occupying lesions. With T2-SPACE images hidden, a senior and junior radiologist made a diagnosis for all patients using only the 3D-real IR images. After 4 weeks the images were shuffled, and T2-SPACE images were made available to the 2 radiologists in addition to 3D-real IR to reconsider the diagnosis for all patients. RESULTS: With the SPACE images hidden, the correct diagnosis rate of the space-occupying lesions was 8/15 (53.3%) for the senior radiologist, whereas it was only 2/15 (13.3%) for the junior radiologist. Without the SPACE images hidden, the correct diagnosis rate of the space-occupying lesions was 15/15 (100.0%) for the senior radiologist, whereas it was 13/15 (86.7%) for the junior radiologist. Of the 15 patients, 7 had only vestibular space-occupying lesions, 2 had only cochlear space-occupying lesions, and 6 had both. No semicircular canal space-occupying lesion was observed. CONCLUSIONS: T2-SPACE can help identify space-occupying lesions of the inner ear that tend to be misdiagnosed as endolymphatic hydrops on 3D-real IR. The senior radiologist had a higher rate for the identification of space-occupying lesions than the junior radiologist when using only 3D-real IR, although the senior radiologist detection rate was still only 53.3%. With the addition of T2-SPACE, both the junior and senior radiologist achieved a high detection rate, which increased to 86.7% and 100%, respectively.
Asunto(s)
Oído Interno , Hidropesía Endolinfática , Errores Diagnósticos , Oído Interno/diagnóstico por imagen , Oído Interno/patología , Hidropesía Endolinfática/diagnóstico por imagen , Hidropesía Endolinfática/patología , Humanos , Imagenología Tridimensional/métodos , Imagen por Resonancia Magnética/métodos , PerilinfaRESUMEN
PURPOSE: This study is to compare the accuracy of 2D BLADE turbo gradient- and spin-echo imaging (TGSE BLADE) diffusion-weighted imaging (DWI) with that of readout-segmented echo-planar (RESOLVE) DWI in the detection of primary and residual/recurrent temporal bone cholesteatoma. METHODS: The prospective study population consisted of 58 patients who were underwent magnetic resonance (MR) imaging for the evaluation of suspected temporal bone cholesteatoma. Two radiologists independently evaluated the two sequences. Kappa (k) statistics, the intra-class correlation coefficient (ICC), and a paired t test were used for statistical analysis. RESULTS: Of the 58 patients included, all had histo-pathologically confirmed cholesteatomas. In ≤ 3 mm group (n = 13), TGSE BLADE sequence correctly identified all cases except one that was recorded as equivocal on both sequences because of high signal intensity on T1WI; while on RESOLVE sequences, 6 were positive, 4 were equivocal, and 3 were false negative. For > 3 mm group (n = 45), detection performance was similar between the two sequences. The mean ADC of cholesteatoma on TGSE BLADE DWI was 0.923 × 10-3 mm2/s, and the mean ADC of cholesteatoma on RESOLVE DWI was 0.949 × 10-3 mm2/s, with no significant difference in the mean ADC values of cholesteatoma measured on the two sequences (p = 0.9216). CONCLUSION: TGSE BLADE outperforms RESOLVE in the detection of small temporal bone cholesteatoma ≤ 3 mm.
Asunto(s)
Colesteatoma , Imagen Eco-Planar , Imagen de Difusión por Resonancia Magnética/métodos , Imagen Eco-Planar/métodos , Humanos , Estudios Prospectivos , Sensibilidad y Especificidad , Hueso Temporal/diagnóstico por imagen , Hueso Temporal/patologíaRESUMEN
OBJECTIVE: To evaluate the diagnostic accuracy of 2D BLADE turbo gradient- and spin-echo diffusion weighted imaging (TGSE BLADE DWI) for primary middle ear cholesteatoma diagnosis, using qualitative and quantitative methods. STUDY DESIGN: Retrospective case series. SETTING: University hospital. PATIENTS: Participants included those with suspected primary middle ear cholesteatoma after assessment by clinical otorhinolaryngologists combined with magnetic resonance imaging (MRI) examination. Finally, of the 85 ears from 65 patients enrolled in the study, 73 had cholesteatoma, and 12 had otitis media. INTERVENTION: Two radiologists independently assessed images and measured apparent diffusion coefficient (ADC) values. Sensitivity, specificity and accuracy were evaluated. Kappa (k) statistics, the intraclass correlation coefficient (ICC), the Kolmogorov-Smirnov normality test, the independent t test, and receiver operating characteristic (ROC) analysis were used for statistical analysis. Pair-wise comparison of the area under the ROC curve (AUC) was also performed using the Delong test. MAIN OUTCOME MEASURES: Imaging and histopathologic findings. RESULTS: The mean ADC value of cholesteatoma group (mean, 0.923 ± 0.246 × 10 -3 mm 2 /s) was significantly lower than that of noncholesteatoma group (mean, 1.744 ± 0.205 × 10 -3 mm 2 /s; p < 0.001). In ≤3 mm cholesteatoma group, the AUC of qualitative DWI was 0.846; the sensitivity, specificity, and accuracy for diagnosing cholesteatoma were 69.23%, 100%, and 84%, respectively; while the AUC of quantitative diagnosis was significantly increased to 1.0 ( p = 0.0209); and based on the optimal threshold of ADC, ≤1.352 × 10 -3 mm 2 /s, the sensitivity, specificity and accuracy improved to 100%. For >3 mm cholesteatoma group, there were no significant differences in diagnostic performance. Excellent interobserver agreement and ICC for the qualitative and quantitative evaluations (k = 0.90 and ICC = 0.80, respectively) was noted between reviewers. CONCLUSION: TGSE BLADE DWI is useful for the detection of primary middle ear cholesteatomas, especially ≤3 mm lesions.
Asunto(s)
Colesteatoma del Oído Medio , Otitis Media , Colesteatoma del Oído Medio/diagnóstico por imagen , Colesteatoma del Oído Medio/patología , Imagen de Difusión por Resonancia Magnética/métodos , Humanos , Estudios Retrospectivos , Sensibilidad y EspecificidadRESUMEN
OBJECTIVE: To investigate the characteristics of endolymphatic hydrops (EH) in Menire's disease (MD) patient on a vertigo attack. STUDY DESIGN: Prospective study. SETTING: Tertiary referral center. PATIENTS: Thirty-six MD patients underwent the enhanced magnetic resonance imaging (MRI) examinations of the inner ear on a vertigo attack were enrolled. MAIN OUTCOME MEASURES: All patients met the diagnostic criteria for MD and underwent intravenous gadolinium injection 4âhours before the MRI examinations. The MRI examinations were performed in MD patients on a vertigo attack. RESULTS: Various degrees of vestibular EH appeared in almost all affected ears (2 ears had no EH, 11 ears had mild EH, 26 ears had significant EH). The positive rate of vestibular EH was 37/39 (94.9%). Cochlear EH occurred in 29 ears among 39 affected ears (17 ears had mild EH, 12 ears had significant EH). CONCLUSION: MRI with intravenous gadolinium injection can provide a better assessment of EH in MD patient on a vertigo attack. Vestibular EH seems to be closely related with the vertigo attacks in MD patients, which needs further study.
Asunto(s)
Hidropesía Endolinfática , Enfermedad de Meniere , Vestíbulo del Laberinto , Hidropesía Endolinfática/complicaciones , Hidropesía Endolinfática/diagnóstico por imagen , Hidropesía Endolinfática/patología , Gadolinio , Humanos , Imagen por Resonancia Magnética/métodos , Enfermedad de Meniere/complicaciones , Enfermedad de Meniere/diagnóstico por imagen , Estudios Prospectivos , Vértigo/diagnóstico por imagen , Vestíbulo del Laberinto/diagnóstico por imagen , Vestíbulo del Laberinto/patologíaRESUMEN
Extramammary Paget's disease is an uncommon intra-epidermal malignant neoplasm that arises in area rich in apocrine glands. Common sites of occurrence include the vulva, perianal region, perineum, and scrotum. The lesion may be accompanied by an invasive adenocarcinoma or adenocarcinoma in situ of the apocrine glands. Generally, the prognosis is poor. Herein, we report two cases of extramammary Paget's disease, one involving the penoscrotal area with bilateral inguinal and pelvic lymph node metastases, the other involving the scrotal area without metastases.