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1.
Magn Reson Med Sci ; 2024 Mar 07.
Article in English | MEDLINE | ID: mdl-38447989

ABSTRACT

PURPOSE: The 8th edition of the American Joint Committee on Cancer staging system included the depth of invasion (DOI) for the T classification of oral cancer. However, no standardized method has been established to clinically measure the DOI. This study aimed to investigate the accuracy of MRI-based DOI for oral tongue squamous cell carcinoma (OTSCC) in each MRI sequence. METHODS: We enrolled 49 patients with histologically proven OTSCC, treated surgically between April 2017 and February 2021. We divided the DOI into three groups using 5 and 10 mm, the thresholds for determining the T stage, and retrospectively evaluated the agreement between MRI-based DOI and pathological DOI (pDOI) for each MRI sequence, axial T1-weighted imaging (T1WI), T2-weighted imaging with fat suppression (FS-T2WI), contrast-enhanced T1WI with fat suppression (CE-T1WI), diffusion-weighted imaging (DWI), and apparent diffusion coefficient (ADC) maps. We also divided the DOI into two groups using 3 mm, the threshold for considering elective neck dissection, and evaluated the overestimation rate of MRI-based DOI in lesions with pDOI ≤ 3 mm. RESULTS: With 5-mm and 10-mm divisions, the accuracy of the DOI assessment was highest on DWI (0.82, weighted kappa = 0.85). With a 3-mm division, the accuracy was also highest on DWI (0.87, kappa = 0.73). The overestimation rate of the MRI-based DOI in lesions with pDOI ≤ 3 mm was lowest on DWI (27.8%). CONCLUSION: DOI on DWI exhibits a comparatively higher rate of concordance with pDOI. DWI may be more useful than other MRI sequences in evaluating the DOI of OTSCC.

2.
J Neurosurg ; : 1-8, 2024 Feb 23.
Article in English | MEDLINE | ID: mdl-38394652

ABSTRACT

OBJECTIVE: The aim of this study was to investigate the impact of collagen matrix on reconstructive material selection and postoperative complications in endoscopic endonasal skull base surgery. METHODS: The authors retrospectively reviewed the data of consecutive patients who underwent purely endoscopic endonasal skull base surgery from January 2015 to March 2023. Intraoperative CSF leakage was classified according to the Esposito grade, and skull base repair was tailored to the leakage grade. The patients were divided into two groups: before (group A) and after (group B) collagen matrix implementation. The rates of autologous graft harvesting (fat, fascia, and nasoseptal flap), postoperative CSF leakage, and donor-site complications were compared between the two groups. RESULTS: In total, 270 patients were included. Group A included 159 patients and group B included 111 patients. There were no differences in patient characteristics, including age, pathology, and Esposito grade, between the two groups. The overall fat usage rate was significantly higher in group A (63.5%) than in group B (39.6%) (p = 0.0001), and the fascia usage rate was also significantly higher in group A (25.8%) than in group B (4.5%) (p < 0.0001). The nasoseptal flap usage rate did not differ between group A (32.7%) and group B (30.6%) (p = 0.79). Postoperative CSF leakage was similar between the two groups (0.63% in group A vs 1.8% in group B, p = 0.57), and the overall rate of CSF leakage was 1.1%. Donor-site complications occurred in 3 patients in group A, including 1 abdominal hematoma, 1 delayed abdominal infection, and 1 fluid collection after fascia lata harvesting. CONCLUSIONS: Collagen matrix implementation significantly decreased autologous graft harvesting without increasing postoperative CSF leakage, contributing to less invasive surgery.

3.
Discov Oncol ; 15(1): 36, 2024 Feb 15.
Article in English | MEDLINE | ID: mdl-38358561

ABSTRACT

PURPOSE: Salivary gland tumors are histologically diverse. Ionocytes and tuft cells, rare epithelial cells found in normal salivary glands, might be associated with salivary tumors. Here, we explored the expression of FOXI1 and POU2F3, master regulators of ionocytes and tuft cells, respectively, for common salivary neoplasms using immunohistochemistry. METHODS: We analyzed normal salivary tissues and nine salivary gland tumors; Warthin tumors (WT), pleomorphic adenomas (PA), basal cell adenomas, and oncocytomas were benign, whereas mucoepidermoid, adenoid cystic, acinic cell, salivary duct carcinomas, and polymorphous adenocarcinomas were malignant. RESULTS: Normal salivary glands contained a few FOXI1- and POU2F3-positive cells in the ducts instead of the acini, consistent with ionocytes and tuft cells, respectively. Among the benign tumors, only WTs and PAs consistently expressed FOXI1 (10/10 and 9/10, respectively). The median H-score of WTs was significantly higher than that of PAs (17.5 vs. 4, P = 0.01). While WTs and PAs harbored POU2F3-positive cells (10/10 and 9/10, respectively), the median H-score was higher in WTs than in PAs (10.5 vs 4, respectively). Furthermore, WTs exhibited a unique staining pattern of FOXI1- and POU2F3-positive cells, which were present in luminal and abluminal locations, respectively. Whereas none of the malignant tumors expressed FOXI1, only adenoid cystic carcinoma consistently expressed POU2F3 (5/5), with a median H-score of 4. CONCLUSION: The expression patterns of the characteristic transcription factors found in ionocytes and tuft cells vary among salivary gland tumor types and are higher in WT, which might be relevant for understanding and diagnosing salivary gland neoplasms.

4.
Head Neck ; 45(7): 1812-1822, 2023 07.
Article in English | MEDLINE | ID: mdl-37161880

ABSTRACT

BACKGROUND: Some oral squamous cell carcinoma (OSCC) cases are unaffected by smoking or drinking. This study aimed to clarify distinctive groups among OSCC patients and examine the characteristics of multiple primary carcinomas (MPCs). METHODS: We analyzed data from 970 patients. The patients were divided into three groups: all individuals <45 years (<45 y), smokers/drinkers ≥45 years (SD ≥45 y), and non-smokers/non-drinkers ≥45 years (NSND ≥45 y). RESULTS: Tongue cancers were more common in the <45 y group than in the other groups (p < 0.001). The NSND ≥45 y group was significantly older and more likely to be female than the SD ≥45 y group (p < 0.001). MPCs in the upper aerodigestive tract were more common in men and smokers/drinkers, whereas women were at risk for multiple primary OSCCs (p = 0.022). CONCLUSIONS: The "young tongue" and "elderly female" subgroups and characteristics of MPCs suggest carcinogenic factors of OSCC other than smoking and drinking.


Subject(s)
Carcinoma, Squamous Cell , Head and Neck Neoplasms , Mouth Neoplasms , Male , Humans , Female , Aged , Mouth Neoplasms/epidemiology , Mouth Neoplasms/etiology , Mouth Neoplasms/pathology , Squamous Cell Carcinoma of Head and Neck/epidemiology , Carcinoma, Squamous Cell/epidemiology , Carcinoma, Squamous Cell/etiology , Carcinoma, Squamous Cell/pathology , Retrospective Studies , Alcohol Drinking/adverse effects , Alcohol Drinking/epidemiology , Smoking/adverse effects , Smoking/epidemiology
5.
J Clin Biochem Nutr ; 72(1): 89-91, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36777076

ABSTRACT

Percutaneous treatment of symptomatic hepatic cysts includes simple drainage and drainage with sclerosing agents. We compared the efficacy of simple drainage with that of drainage with minocycline infusion for treating symptomatic hepatic cysts. We retrospectively evaluated 11 patients who underwent percutaneous drainage of symptomatic hepatic cysts. In seven cases, minocycline infusion was added at the discretion of the clinician. Cyst volume was evaluated before drainage, immediately after drainage, and after long-term follow-up. Cyst volume was calculated before treatment by multiplying the orthogonal diameters using the ellipsoid formula. Relapse was defined as the regrowth of the cyst with symptoms. Cyst volume immediately after drainage and after long-term follow-up was significantly less than that before treatment for the drainage with minocycline infusion group (p<0.05) but not for the simple drainage group. The relapse rates were 25% (1/4) for the simple drainage group and 0% for the drainage with minocycline infusion group. Drainage with minocycline infusion could be a promising option for treating symptomatic hepatic cysts, although simple drainage was not reliable.

6.
Auris Nasus Larynx ; 50(4): 550-557, 2023 Aug.
Article in English | MEDLINE | ID: mdl-36588056

ABSTRACT

OBJECTIVES: Olfactory neuroblastoma (ONB), also known as esthesioneuroblastoma, is a rare malignant neoplasm of the nasal vault and anterior skull base. The results of treatment for ONB are relatively good; however, regional and distant metastases can develop several years after definitive treatment. This study aimed to validate the treatment modality of ONB for oncological outcomes, especially for regional recurrence. METHODS: We retrospectively reviewed the medical records of 22 patients diagnosed with ONB at Kyoto University Hospital between 2009 and 2020. Descriptive statistics were calculated, and Kaplan-Meier curves were used. RESULTS: The median follow-up time was 58.2 months. One (4.5%) patient was clinically node positive, (cN+) and the remaining 21 (95.5%) were clinically node negative (cN0) at presentation. Eighteen patients underwent an endoscopic endonasal approach (EEA) for primary resection, and the remaining four patients underwent a combined EEA and transcranial approach. Elective neck dissection was not performed for 21 patients with cN0 ONB, whereas unilateral neck dissection with removal of ipsilateral lateral retropharyngeal node was performed for one patient with cN+ ONB. Postoperative radiotherapy without concurrent chemotherapy was performed only at the primary tumor bed for 21 patients with cN0 ONB, and at the primary tumor bed and bilateral neck for one patient with cN+ ONB. The 5-year overall, disease-specific, and disease-free survival rates were 94.1%, 100%, and 69.6%, respectively. No patients developed local recurrence, but 6 (27.2%) patients experienced recurrence with a median time to recurrence of 36.4 months, including four and two patients who initially developed regional recurrences and bone metastases, respectively. Five (22.7%) patients had delayed neck recurrence. The salvage rate was only 60.0% in the five patients who had delayed neck recurrence. Regarding the level of delayed neck recurrence, 4 (18.2%) patients had lateral retropharyngeal lymph node metastases. CONCLUSION: Patients with ONB have excellent survival outcomes after endoscopic surgical resection of the primary lesion with postoperative radiotherapy only to the primary tumor bed. Despite excellent survival, delayed neck recurrence, including the lateral retropharyngeal lymph node, remains high. Because salvage surgery for lateral retropharyngeal lymph node recurrence is sometimes technically difficult, it may be better to extend the field of postoperative radiotherapy from the primary tumor bed only to include bilateral lateral retropharyngeal lymph node regions in patients with clinically N0 ONB. Further prospective studies with a large number of patients are needed to determine the extent of postoperative radiotherapy.


Subject(s)
Esthesioneuroblastoma, Olfactory , Nose Neoplasms , Humans , Esthesioneuroblastoma, Olfactory/surgery , Retrospective Studies , Prospective Studies , Nose Neoplasms/surgery , Nose Neoplasms/diagnosis , Nasal Cavity/surgery , Neoplasm Recurrence, Local/surgery
7.
Auris Nasus Larynx ; 50(1): 32-39, 2023 Feb.
Article in English | MEDLINE | ID: mdl-35440399

ABSTRACT

Over the past couple of decades, endoscopic skull base surgery (ESBS) has significantly evolved and is applied to a broad range of skull base pathologies, including sinonasal malignancies. Recent studies have demonstrated remarkable progress of ESBS in complete resection with low morbidity and extension of its application to larger and more complex lesions. In this review, we focus on the evolution of functional preservation and multiportal approaches. Progress in preoperative assessments and surgical techniques improved the preservation of olfactory function after ESBS. The technical feasibility of olfaction preservation even after resection of olfactory groove lesions has been reported. To overcome the limitations of extending use of the endoscopic endonasal approach in surgical fields, various types of multiportal approaches, including combinations of the endoscopic endonasal and transorbital, transmaxillary, or transoral approach, have been reported, as they are useful for complete resection of extensive pathologies while limiting morbidity. These innovative techniques are still in the process of maturation. Hence, an ongoing critical evaluation is essential to ensure efficacy.


Subject(s)
Endoscopy , Skull Base Neoplasms , Humans , Endoscopy/methods , Neurosurgical Procedures/methods , Skull Base/surgery , Nose , Skull Base Neoplasms/surgery
8.
Cureus ; 14(1): e21761, 2022 Jan.
Article in English | MEDLINE | ID: mdl-35251832

ABSTRACT

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of respiratory distress in newborns. This paper reports a case of severe CNPAS that required endotracheal intubation immediately after birth, and eventually, surgical intervention. At birth, the width of the pyriform aperture was only 4 mm, and the patient was completely unable to breathe through his nose. We performed tracheostomy at 23 days of age and waited for the patient to grow, but at 56 days of age, the width of the pyriform aperture was not sufficient (6 mm) for the patient to breathe through his nose. Therefore, surgical dilation of the pyriform aperture by a sublabial approach was performed on day 79 after birth, and the width was increased to 14 mm. Postoperative stent placement was performed for two weeks. After the removal of the stents, the patient could finally breathe through his nose, and the postoperative course was uneventful, with no restenosis after four months. CNPAS is a rare cause of nasal obstruction, but it can cause respiratory distress in infants because they are dependent on nasal breathing. Conservative treatments are initially recommended for CNPAS; however, in severe cases where conservative treatments are ineffective, surgical treatment is recommended.

9.
Mol Imaging Biol ; 24(1): 167-176, 2022 02.
Article in English | MEDLINE | ID: mdl-34642900

ABSTRACT

PURPOSE: Flexible positron emission tomography (fxPET) employing a non-local means reconstruction algorithm was designed to fit existing magnetic resonance imaging (MRI) systems. We aimed to compare the qualitative and quantitative performance of fxPET among fxPET with MR-based attenuation correction (MRAC), fxPET with CT-based attenuation correction (CTAC) using CT as a part of WB PET/CT, and whole-body (WB) PET/CT. PROCEDURES: Sixteen patients with suspected head and neck cancer underwent 2-deoxy-2-[18F]fluoro-D-glucose WB PET/CT scans, followed by fxPET and 3 T MRI scans. Phantom data were compared among the three datasets. For registration accuracy, we measured the distance between the center of the tumor determined by fxPET and that in MRI. We compared image quality, detection rates, and quantitative values including maximal standardized uptake value (SUVmax), metabolic tumor volume (MTV), total lesion glycolysis (TLG), and tumor-to-muscle ratio (TMR) among the three datasets. RESULTS: The phantom data in fxPET, except the percent contrast recoveries of 17-mm and 22-mm hot spheres, were inferior to those in WB PET/CT. The mean registration accuracy was 4.4 mm between fxPET using MRAC and MRI. The image quality was comparable between two fxPET datasets, but significantly inferior to WB PET/CT (p < 0.0001). In contrast, detection rates were comparable among the three datasets. SUVmax was significantly higher, and MTV and TLG were significantly lower in the two fxPET datasets compared with the WB PET/CT dataset (p < 0.005). There were no significant differences in SUVmax, MTV, and TLG between the two fxPET datasets or in TMR among the three datasets. All quantitative values had significantly positive correlations. CONCLUSIONS: Compared with WB PET/CT, the phantom data and image quality were inferior in fxPET. However, the results of the detection rates and quantitative values suggested the clinical feasibility of fxPET.


Subject(s)
Multimodal Imaging , Positron Emission Tomography Computed Tomography , Fluorodeoxyglucose F18 , Humans , Magnetic Resonance Imaging/methods , Multimodal Imaging/methods , Positron-Emission Tomography/methods , Radiopharmaceuticals , Tomography, X-Ray Computed/methods
10.
Auris Nasus Larynx ; 49(6): 1088-1092, 2022 Dec.
Article in English | MEDLINE | ID: mdl-34511301

ABSTRACT

Endoscopic resection with post-operative radiotherapy has been included in the standard therapeutic options for olfactory neuroblastomas (ONBs). Recent publications have indicated the feasibility of olfactory preservation after endoscopic unilateral resection of ONBs. This study validated residual olfaction using the psychophysical assessment, T & T olfactometer, in patients who underwent endoscopic unilateral resection with post-operative radiotherapy. A single-institutional retrospective review was performed to identify patients who underwent endoscopic unilateral resection of ONBs with olfaction monitoring using T & T olfactometer between 2009 and 2020. T & T olfactometry was performed before surgery, after surgery, before radiotherapy, and after completion of radiotherapy. Four patients (one female and three males) were identified. The mean observation period was 41.9 months, and all patients showed no evidence of disease. Three patients exhibited residual olfactory function with two patients having normal or pre-operative level olfaction, although T & T olfactometer results showed a temporary increase in recognition thresholds after surgery. As consequence, endoscopic unilateral resection can achieve satisfactory olfactory preservation in patients with early-stage ONBs.


Subject(s)
Esthesioneuroblastoma, Olfactory/surgery , Nose Neoplasms/surgery , Olfaction Disorders/physiopathology , Olfaction Disorders/psychology , Smell/physiology , Endoscopy/adverse effects , Endoscopy/standards , Esthesioneuroblastoma, Olfactory/physiopathology , Esthesioneuroblastoma, Olfactory/radiotherapy , Female , Humans , Male , Nasal Cavity/surgery , Nose Neoplasms/physiopathology , Nose Neoplasms/radiotherapy , Olfaction Disorders/etiology , Radiotherapy, Adjuvant , Retrospective Studies
11.
Auris Nasus Larynx ; 49(6): 1051-1055, 2022 Dec.
Article in English | MEDLINE | ID: mdl-33867182

ABSTRACT

Ameloblastic fibrosarcoma (AFS) is the most common odontogenic sarcoma, but the incidence is relatively low, and its molecular biology is poorly understood. We experienced a young female patient with a rapidly growing soft tissue tumor of the left maxilla, which eventually occupied the left side of the oral cavity. Histologically, the tumor mainly consisted of a proliferation of atypical spindle to polygonal cells without any specific differentiation, but a small number of benign odontogenic epithelial foci mainly in the tumor periphery were also noted; thus, a diagnosis of AFS was made. We performed whole-exome sequencing (WES) on the tumor to investigate its molecular features and identify therapeutic options. We found that the tumor harbored EGFR exon 20 insertions and MDM2 amplification; the former may be a target for newly developed tyrosine kinase inhibitors in case of recurrence. To the best of our knowledge, this is the first case of AFS for which WES was performed and with EGFR mutation. Our case provides new genetic information on AFS and suggests that comprehensive genetic analysis can clarify the molecular biology in rare cancers, potentially leading to the proposal of therapeutic strategies.


Subject(s)
Fibrosarcoma , Mouth Neoplasms , Odontogenic Tumors , ErbB Receptors/genetics , Exons/genetics , Female , Fibrosarcoma/diagnostic imaging , Fibrosarcoma/genetics , Humans , Maxilla , Odontogenic Tumors/pathology , Exome Sequencing
12.
Gastrointest Endosc ; 95(4): 692-700.e3, 2022 Apr.
Article in English | MEDLINE | ID: mdl-34762920

ABSTRACT

BACKGROUND AND AIMS: We aimed to clarify whether red dichromatic imaging (RDI), a new type of image-enhanced endoscopy, improves the visibility of bleeding points in acute GI bleeding (AGIB) compared with white-light imaging (WLI). METHODS: Images and videos of bleeding points acquired with WLI and RDI during endoscopic hemostasis for AGIB were retrospectively compared. In images, the color difference between bleeding points and surrounding blood was analyzed. In videos, 4 expert and 4 trainee endoscopists evaluated the visibility on a scale of 1 (undetectable) to 4 (easily detectable). Furthermore, the correlation between the color difference and visibility score was evaluated. RESULTS: We analyzed 64 lesions. The color difference was significantly higher in RDI (13.11 ± 4.02) than in WLI (7.38 ± 3.68, P < .001). The mean visibility score for all endoscopists was significantly higher in RDI (3.12 ± .51) compared with WLI (2.72 ± .50, P < .001); this was also observed in experts (3.18 ± .51 vs 2.79 ± .54, P < .001) and trainees (3.05 ± .54 vs 2.64 ± .47, P < .001). The color difference and visibility score were moderately correlated for all endoscopists (γ = .56, P < .001) and for experts (γ = .53, P < .001) and trainees (γ = .57, P < .001). CONCLUSIONS: RDI improves the visibility of bleeding points in AGIB compared with WLI. RDI can help endoscopists at all levels of experience to recognize bleeding points by enhancing the color contrast relative to surrounding blood.


Subject(s)
Hemostasis, Endoscopic , Endoscopy, Gastrointestinal , Gastrointestinal Hemorrhage/diagnostic imaging , Gastrointestinal Hemorrhage/therapy , Humans , Image Enhancement/methods , Retrospective Studies
13.
World Neurosurg ; 158: e896-e902, 2022 02.
Article in English | MEDLINE | ID: mdl-34844009

ABSTRACT

BACKGROUND: Diabetes insipidus (DI) is a well-known complication of transsphenoidal surgery. However, the risk factors for DI remain controversial. METHODS: We conducted a retrospective study of patients who underwent endoscopic transsphenoidal surgery for pituitary adenoma at our institution during a 5-year period. The patients were divided into a DI group and a non-DI group. Logistic regression analyses were used to identify risk factors for postoperative DI. In subgroup analysis, the DI group was divided into transient DI and permanent DI groups, and perioperative factors were compared between groups. RESULTS: Of 101 patients, 58 were in the non-DI group (57.4%) and 43 were in the DI group (42.6%). Permanent DI occurred in 7 patients (6.9%). In univariate analyses, statistically significant risk factors were suprasellar extension, tumor functionality, and intraoperative cerebrospinal fluid leaks by Esposito grade. In multivariate logistic regression analysis, Esposito grade was the only statistically significant risk factor (P = 0.015). The frequency of DI increased as the Esposito grade increased (P = 0.0002 for the trend). In subgroup analysis, postoperative nadir sodium concentration was lower in the permanent DI group (128.1 ± 2.78 mmol/L) than in the transient DI group (135 ± 1.22 mmol/L; P = 0.035), and the optimal cutoff value was 124.5 mmol/L, with a sensitivity of 57.1% and a specificity of 91.7% (area under the curve = 0.76, P = 0.034). CONCLUSIONS: Intraoperative cerebrospinal fluid leak by Esposito grade is associated with postoperative DI. These data can be applied to help identify high-risk patients who need more aggressive follow-up and fluid management.


Subject(s)
Adenoma , Diabetes Insipidus , Diabetes Mellitus , Pituitary Neoplasms , Adenoma/complications , Adenoma/surgery , Cerebrospinal Fluid Leak/epidemiology , Cerebrospinal Fluid Leak/etiology , Cerebrospinal Fluid Leak/surgery , Diabetes Insipidus/complications , Diabetes Insipidus/etiology , Humans , Pituitary Neoplasms/complications , Pituitary Neoplasms/surgery , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Postoperative Complications/surgery , Retrospective Studies
14.
Medicina (Kaunas) ; 57(12)2021 Dec 13.
Article in English | MEDLINE | ID: mdl-34946306

ABSTRACT

Background and Objectives: To investigate clinicopathological characteristics and survival outcomes of patients with buccal cancer in Japan. Materials and Methods: This study was conducted using a database of 1055 patients with oral cancers treated between 2010 and 2017 at 12 institutions in Japan. Ninety-two patients (8.7%) with primary buccal cancer were extracted and clinicopathological characteristics and survival outcomes were compared between patients with buccal cancers and patients with other oral cancers. Results: Ages were significantly higher in the patients with buccal cancer (73 years old vs. 69 years old). Buccal cancer had less advanced cT stage and cN stage than other oral cancers. Overall 5-year survival (OS) was 80.6%, and recurrence-free 5-year survival (RFS) of buccal cancers was 67.8%, and there were no significant differences in survival compared with other oral cancers in terms OS or RFS (5y-OS: 82.5%, 5y-RFS: 74.4%). However, patients with stage IV buccal cancer showed poorer prognosis in terms of OS and RFS compared with the same stage patients with other oral cancer. Advanced T stage was the only factor independently associated with both OS and RFS of patients with buccal cancer in this study. Conclusions: Postoperative radiotherapy or chemoradiotherapy should be considered to improve survival outcome of buccal cancer patients, especially for the patients with advanced primary site disease or a higher cancer stage.


Subject(s)
Carcinoma, Squamous Cell , Mouth Neoplasms , Aged , Carcinoma, Squamous Cell/pathology , Carcinoma, Squamous Cell/therapy , Chemoradiotherapy , Disease-Free Survival , Humans , Japan/epidemiology , Mouth Neoplasms/pathology , Mouth Neoplasms/therapy , Neoplasm Staging , Prognosis , Retrospective Studies
15.
Cureus ; 13(10): e18786, 2021 Oct.
Article in English | MEDLINE | ID: mdl-34796072

ABSTRACT

Angiomatous polyp is a benign, nonneoplastic nasal polyp that accounts for 4-5% of all inflammatory nasal polyps but is rarely reported in the literature. It can grow rapidly and exhibit an aggressive clinical behavior that can simulate malignant sinonasal tumor. We herein report a case of a 13-year-old boy with a rapidly growing angiomatous polyp in the nasal cavity. We had followed up the patient without significant changes for two years, but the tumor had rapidly grown in the last six months. At first, the rapid growth of the tumor and the bone erosion of the maxilla were suggestive of a malignant tumor. However, with preoperative magnetic resonance imaging (MRI) and [18F]-2-fluoro-2-deoxy-D-glucose positron emission tomography imaging findings, we established the corrective diagnosis of an angiomatous polyp. After the diagnostic imaging, we performed an endoscopic endonasal surgery and totally resected the tumor without unnecessary excessive surgery. Recognition of this disease that can mimic malignancy is important to avoid excessive surgery such as en bloc resection by craniofacial approach, and we believe that MRI findings can be helpful for the imaging diagnosis.

16.
Clin Genet ; 100(6): 722-730, 2021 12.
Article in English | MEDLINE | ID: mdl-34569062

ABSTRACT

Cerebellar ataxia is a genetically heterogeneous disorder. GEMIN5 encoding an RNA-binding protein of the survival of motor neuron complex, is essential for small nuclear ribonucleoprotein biogenesis, and it was recently reported that biallelic loss-of-function variants cause neurodevelopmental delay, hypotonia, and cerebellar ataxia. Here, whole-exome analysis revealed compound heterozygous GEMIN5 variants in two individuals from our cohort of 162 patients with cerebellar atrophy/hypoplasia. Three novel truncating variants and one previously reported missense variant were identified: c.2196dupA, p.(Arg733Thrfs*6) and c.1831G > A, p.(Val611Met) in individual 1, and c.3913delG, p.(Ala1305Leufs*14) and c.4496dupA, p.(Tyr1499*) in individual 2. Western blotting analysis using lymphoblastoid cell lines derived from both affected individuals showed significantly reduced levels of GEMIN5 protein. Zebrafish model for null variants p.(Arg733Thrfs*6) and p.(Ala1305Leufs*14) exhibited complete lethality at 2 weeks and recapitulated a distinct dysplastic phenotype. The phenotypes of affected individuals and the zebrafish mutant models strongly suggest that biallelic loss-of-function variants in GEMIN5 cause cerebellar atrophy/hypoplasia.


Subject(s)
Cerebellar Ataxia/diagnosis , Cerebellar Ataxia/genetics , Genetic Association Studies , Genetic Predisposition to Disease , Mutation , Phenotype , SMN Complex Proteins/genetics , Animals , Brain/abnormalities , Brain/diagnostic imaging , Disease Models, Animal , Facies , Genetic Association Studies/methods , Humans , Loss of Function Mutation , Magnetic Resonance Imaging , Models, Molecular , Motor Neurons/metabolism , Nonsense Mediated mRNA Decay , Pedigree , Protein Conformation , SMN Complex Proteins/chemistry , Structure-Activity Relationship , Exome Sequencing , Zebrafish
17.
Cureus ; 13(4): e14423, 2021 Apr 11.
Article in English | MEDLINE | ID: mdl-33996291

ABSTRACT

Programmed cell death ligand 1 (PD-L1) expression and tumor-associated immune cell (TAIC) density can be the biomarkers of survival outcome and for predicting the efficacy of immune checkpoint inhibitors in oral squamous cell carcinoma (OSCC), but whether single biopsy accurately reflects the values of these parameters in resected specimens is unclear. To clarify this, we evaluated the concordance of immune marker expression (PD-L1, PD-1, CD3, CD4, CD8, and CD68) between 39 paired biopsied and surgically resected specimens obtained from patients with OSCC at Kobe City Medical Center General Hospital between July 2011 and January 2016. Immune marker expression was assessed using immunohistochemistry. PD-L1 expression was consistent between the biopsied and surgically resected specimens in only 76.9% of cases. TAIC density was significantly lower in biopsied than in surgically resected specimens. There was considerable discordance in immune marker expression between biopsied and surgically resected specimens. We should take into consideration that PD-L1 positivity and TAIC density would be underestimated by single small biopsies compared to the estimations by surgically resected specimens.

18.
Cureus ; 13(3): e14230, 2021 Mar 31.
Article in English | MEDLINE | ID: mdl-33959429

ABSTRACT

Vidian nerve schwannomas are extremely rare, and their surgical management requires an awareness of the surrounding vascular and nervous systems, including the internal carotid artery. Herein, we report a case of a vidian nerve schwannoma that was successfully removed using an endoscopic endonasal approach in a 21-year-old patient who presented with lacrimal hyposecretion. Imaging revealed a large mass extending to the middle cranial fossa posteriorly, to the pterygopalatine fossa laterally, and to the sphenoid sinus medially. The paraclival and petrosal portions of the internal carotid artery were displaced posteriorly. Endoscopic observation of the right nose demonstrated anterior displacement of the inferior portion of the middle turbinate. Based on the above, we suspected a vidian nerve schwannoma, and endoscopic endonasal surgery was performed with particular attention to avoid vascular injuries. An endoscopic transmaxillary approach was used to expose the anterior surface of the tumor. After confirming the pathological diagnosis intraoperatively, intracapsular resection of the tumor was completed using an ultrasonic surgical aspirator with Doppler monitoring of the location of the internal carotid artery. Endoscopic management of the surgical field and preparation to avoid vascular injury are essential for safe and efficient tumor resection.

19.
Thyroid ; 31(9): 1316-1321, 2021 09.
Article in English | MEDLINE | ID: mdl-34049438

ABSTRACT

Background: Monocarboxylate transporter 8 (MCT8) deficiency is an X-chromosome-linked neurodevelopmental disorder resulting from impaired thyroid hormone transport across the cell membrane. The diagnosis of MCT8 deficiency is typically delayed owing to the late appearance of signs and symptoms as well as the inability of standard biomarkers of neonatal screening to provide early detection. In this study, we report, for the first time, the ability to detect MCT8 deficiency at birth using dried blood spot (DBS) samples. Methods: We retrospectively measured triiodothyronine (T3), thyroxine (T4), and reverse T3 (rT3) levels in DBS samples obtained at 4-5 days of life from 6 infants with genetically confirmed MCT8 deficiency and from 110 controls. The latter consisted of 58 healthy term neonates obtained at the same time, 16 were stored for more than 1 year before measurement to match samples from the MCT8-deficient infants. Ten DBS samples were collected at day 1 of life and 42 samples were from prematurely born neonates. Measurements were carried out in extract from eight millimeters diameter DBS using liquid chromatography-tandem mass spectrometry. Results: Contrary to characteristic iodothyronine abnormalities of MCT8 deficiency during later life, T3 and T4 values were not discriminatory from those of other study groups. In contrast, rT3 was significantly lower. The T3/rT3 ratio was higher in the DBS samples from the MCT8-deficient infants compared with all other groups with no overlap (p < 0.0001). Conclusions: rT3 and T3/rT3 ratio in DBS samples obtained from neonates can serve as biomarkers to detect MCT8 deficiency at birth.


Subject(s)
Dried Blood Spot Testing , Mental Retardation, X-Linked/diagnosis , Monocarboxylic Acid Transporters/genetics , Muscle Hypotonia/diagnosis , Muscular Atrophy/diagnosis , Mutation , Neonatal Screening , Symporters/genetics , Triiodothyronine, Reverse/blood , Triiodothyronine/blood , Biomarkers/blood , Early Diagnosis , Female , Genetic Predisposition to Disease , Humans , Infant, Newborn , Male , Mental Retardation, X-Linked/blood , Mental Retardation, X-Linked/genetics , Monocarboxylic Acid Transporters/blood , Monocarboxylic Acid Transporters/deficiency , Muscle Hypotonia/blood , Muscle Hypotonia/genetics , Muscular Atrophy/blood , Muscular Atrophy/genetics , Phenotype , Predictive Value of Tests , Retrospective Studies , Symporters/blood , Symporters/deficiency
20.
Medicina (Kaunas) ; 57(4)2021 Apr 12.
Article in English | MEDLINE | ID: mdl-33921486

ABSTRACT

Backgrounds and Objectives: The epidemiology and prognostic role of lingual lymph node (LLN) metastasis in patients with oral squamous cell carcinoma (OSCC) remain unclear. Here, we aimed to analyze the clinicopathological features, risk factors, and prognostic role of LLN metastasis in patients with OSCC. Materials and Methods: In total, 945 patients with OSCC were retrospectively analyzed. Clinicopathological features were compared between patients with and without LLN metastasis. The risk factors of LLN metastasis and its effects on survival outcomes were evaluated using multi-variate analysis. Results: LLN metastasis was noted in 67 patients (7.1%). Habitual alcohol consumption and clinical neck node metastasis were independent risk factors for LLN metastasis. LLN metastasis was an independent prognostic factor for disease-free and overall survival, although LLN dissection did not improve survival outcomes. Conclusion: LLN metastasis is an independent adverse prognostic factor. Further prospective studies are needed to fully assess the extent of LLN dissection required in OSCC patients.


Subject(s)
Carcinoma, Squamous Cell , Head and Neck Neoplasms , Mouth Neoplasms , Carcinoma, Squamous Cell/pathology , Humans , Lymph Nodes/pathology , Lymphatic Metastasis , Mouth Neoplasms/pathology , Neoplasm Staging , Prognosis , Prospective Studies , Retrospective Studies , Squamous Cell Carcinoma of Head and Neck
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