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1.
BMC Oral Health ; 24(1): 6, 2024 01 03.
Article in English | MEDLINE | ID: mdl-38172760

ABSTRACT

BACKGROUND: Very recently, a significant relationship between tonsilloliths and dental plaque-related pathologies was reported using digital panoramic radiographs. Their dynamics over time suggest that tonsilloliths may be in a permanently active phase that functions to remove foreign matter. The aim of the study was to evaluate the relationship between the occurrence of tonsilloliths and the extent of periodontitis. METHODS: A total of 608 patients who underwent both CT and panoramic radiographs were included in the study. Both of two imaging were retrospectively and independently assessed with respect to the presence of tonsilloliths detected on CT and panoramic radiographs, and bone defects caused by periodontitis detected on panoramic radiographs. The type of retrospective study is case-control. Then, the differences between age groups were evaluated with respect to the degree of bone resorption and its correlation with the presence of tonsilloliths. The relationships between categorical variables were assessed using Pearson's correlation coefficient or Spearman's correlation coefficient. RESULTS: There was a significant relationship between tonsilloliths on CT and the extent of the bone defect on panoramic radiographs (Spearman's correlation coefficient, r = 0.648, p = 0.043). In addition, there was a significant difference in the extent of the bone defect caused by periodontitis between subjects with and without tonsilloliths in the 60 to 69-year-old group (Mann-Whitney U test, p = 0.025), 70 to 79-year-old group (Mann-Whitney U test, p = 0.002), and 80 to 89-year-old group (Mann-Whitney U test, p = 0.022), but not in other age groups (Mann-Whitney U test: under 9-year-old group, p = 1.000; 10 to 19-year-old group, p = 1.000; 20 to 29-year-old group, p = 0.854; 30 to 39-year-old group, p = 0.191, 40 to 49-year-old group, p = 0.749; 50 to 59-year-old group, p = 0.627; ≥90-year-old group, p = 1.000). CONCLUSIONS: The presence of tonsilloliths was related to the extent of periodontitis because the structures were responding dynamically.


Subject(s)
Periodontitis , Pharyngeal Diseases , Humans , Middle Aged , Aged , Child , Adolescent , Young Adult , Adult , Aged, 80 and over , Retrospective Studies , Pilot Projects , Pharyngeal Diseases/epidemiology , Pharyngeal Diseases/pathology , Radiography, Panoramic , Periodontitis/complications , Periodontitis/diagnostic imaging
2.
J Oral Maxillofac Surg ; 80(2): 341-348, 2022 Feb.
Article in English | MEDLINE | ID: mdl-34648755

ABSTRACT

PURPOSE: Histogenesis, nomenclature, and classification of branchial cleft anomalies (BCAs) have been subjects of controversy for decades. The purpose of this study was to investigate the accuracy of current developmental theories (congenital, lymph node, and hybrid branchial inclusion theories) in defining the anatomic and histopathological characteristics of BCAs. METHODS: Ninety consecutive patients with BCAs who underwent surgical excision were enrolled in this 2-center retrospective cohort study. RESULTS: The present study included 90 patients: 46 (51.11%) women and 44 (48.89%) men (P > .05). The mean age at presentation was 31.89±17.31 years. Altogether, 92 BCAs were identified within the study population including 49 (53.26%) on the left side and 43 (46.74%) on the right side (P > .05). The BCAs included 79 (85.87%) branchial cleft cysts, 11 (11.96%) branchial cleft sinuses, and 2 (2.17%) branchial cleft fistulae. Three (3.26%) BCAs were distributed in the head regions, 88 (95.65%) in the neck regions, and 1 (1.09%) in the thoracic cavity. Following surgery, lymphoepithelial tissue was detected in the histopathological examination in 83 (90.22%) BCAs. The hybrid branchial inclusion theory exhibited significantly higher accuracy in defining patho-anatomic characteristics of BCAs than the branchial apparatus, precervical sinus, thymopharyngeal, and inclusion theories (90.22, 9.78, 2.17, 0.00, and 0.00%; respectively) (P < .05). CONCLUSION: The novel branchial node (BN) classification system based on the hybrid branchial inclusion theory appears to be superior to other classification systems in determining the patho-anatomy of BCAs.


Subject(s)
Branchioma , Head and Neck Neoplasms , Pharyngeal Diseases , Branchial Region/abnormalities , Branchial Region/pathology , Branchial Region/surgery , Branchioma/diagnosis , Branchioma/surgery , Craniofacial Abnormalities , Female , Head and Neck Neoplasms/pathology , Humans , Male , Pharyngeal Diseases/pathology , Retrospective Studies
3.
Med Princ Pract ; 31(2): 149-155, 2022.
Article in English | MEDLINE | ID: mdl-34963117

ABSTRACT

OBJECTIVE: The purpose of this study was to analyse the prevalence of tonsilloliths and to determine radiographically whether there is a relationship between tonsilloliths and dental plaque-related pathologies in a series of digital panoramic radiographs. MATERIALS AND METHODS: This retrospective study included digital panoramic radiographs of 859 patients admitted for routine dental examination. The panoramic images were examined for both the presence of tonsilloliths and the number of decayed, missing, restored teeth and apical periodontitis. Periodontal bone loss was also measured in thirds of optimal bone height according to the root length and a percentage of bone loss was obtained for each panoramic radiograph evaluated. RESULTS: Tonsilloliths were observed in 141 (16.4%) of all individuals. While there was no significant difference regarding the number of decayed teeth and restored teeth between tonsillolith cases (TT) and cases without tonsillolith (TC), the number of missing teeth and apical periodontitis in TT was significantly higher than TC (p: 0.004, p: 0.030, respectively). There was a significant difference between the groups in terms of the mean percentage of bone loss (p: 0.001; p < 0.05). In addition, cases showing bone loss between one-third and two-thirds of the optimal bone height in the TT group (52.5%) were significantly higher than those in TC (45.5%) (p: 0.035; p < 0.05). CONCLUSION: The relationship between dental plaque-related pathologies and tonsilloliths observed in this retrospective study should be confirmed by computed tomography studies and randomized, prospective, clinical trials conducted in a multidisciplinary manner.


Subject(s)
Dental Plaque , Mouth Diseases , Periapical Periodontitis , Pharyngeal Diseases , Humans , Pharyngeal Diseases/diagnostic imaging , Pharyngeal Diseases/epidemiology , Pharyngeal Diseases/pathology , Prospective Studies , Radiography, Panoramic , Retrospective Studies
4.
BMC Cancer ; 21(1): 1064, 2021 Sep 28.
Article in English | MEDLINE | ID: mdl-34583669

ABSTRACT

BACKGROUND: The neutrophil-to-lymphocyte ratio (NLR) is a marker of systemic inflammation that informs clinical decisions regarding recurrence and overall survival in most epithelial cancers. Radiotherapy for head and neck cancer leads to mucositis in almost all patients and severe radiation-mucositis affects their quality of life (QOL). However, little is known about the NLR for severe mucositis. Therefore, this study aimed to show the association between the NLR and severe radiation-induced mucositis in hypopharyngeal or laryngeal cancer patients. METHODS: In this retrospective study, we determined the incidence of grade 3 mucositis in 99 patients who were receiving definitive radiotherapy or chemoradiotherapy (CRT) for hypopharyngeal or laryngeal cancer. We performed univariate and multivariate logistic regression analyses to investigate the characteristics of grade 3 mucositis. Kaplan-Meier curves and log-rank tests were used to evaluate the occurrence of grade 3 mucositis between two groups with high (NLR > 5) or low (NLR < 5) systemic inflammation. RESULTS: The incidence of grade 3 mucositis was 39%. Univariate logistic regression analysis showed that the NLR (Odd ratio [OR] = 1.09; 95% confidence interval [CI] = 1.02-1.16; p = 0.016) and smoking (OR = 1.02; 95% CI = 1.00-1.03; p = 0.048) were significantly associated with grade 3 mucositis. Multivariate logistic regression analysis showed that the NLR was independently associated with grade 3 mucositis (OR = 1.09; 95% CI = 1.01-1.17; p = 0.021). Kaplan-Meier curves also showed that patients with higher NLR (NLR > 5) prior to radiotherapy developed grade 3 mucositis more frequently than those with lower NLR during radiotherapy (p = 0.045). CONCLUSION: This study suggests that a higher NLR is a risk factor and predictor of severe radiation-induced mucositis in hypopharyngeal or laryngeal cancer patients.


Subject(s)
Hypopharyngeal Neoplasms/radiotherapy , Laryngeal Neoplasms/radiotherapy , Lymphocytes , Mucositis/blood , Neutrophils , Radiation Injuries/blood , Adult , Aged , Female , Humans , Kaplan-Meier Estimate , Laryngeal Diseases/blood , Laryngeal Diseases/etiology , Laryngeal Diseases/pathology , Leukocyte Count , Logistic Models , Lymphocyte Count , Male , Middle Aged , Mucositis/etiology , Mucositis/pathology , Pharyngeal Diseases/blood , Pharyngeal Diseases/etiology , Pharyngeal Diseases/pathology , Quality of Life , Radiation Injuries/pathology , Retrospective Studies , Smoking/adverse effects
5.
Am J Otolaryngol ; 42(3): 102916, 2021.
Article in English | MEDLINE | ID: mdl-33485048

ABSTRACT

OBJECTIVE: We evaluated microwave ablation (MWA) for treatment of isolated pharyngeal benign lesions, in terms of technical feasibility, efficacy, and safety. METHODS: The patients with pharyngeal benign lesions were treated with endoscopic MWA with a 2450-MHz single cooled-shaft microwave antenna and sent for histological examination. Postoperative pain intensity was measured via visual analogue scale (VAS) on the 12th hour and the third postoperative days. RESULTS: Of the 137 patients with pharyngeal benign lesions who met the inclusion criteria. The most commonly involved site was the uvula (n = 66, 48.2%), followed by the lateral pharyngeal wall (n = 37, 27.0%), the nasopharyngeal posterior wall (n = 23, 16.8%) and the soft palate (n = 11, 8.0%). All of the procedures were completed using local anesthesia and were well-tolerated by the patients. The ablation time was 5-10 min, with an average duration of 6.3 ± 1.8 min. The most common pathology was papilloma (n = 96, 70.1%), followed by nasopharyngeal cysts (n = 21, 15.3%), polyp (n = 10, 7.3%), epidermoid cysts (n = 8, 5.8%) and Thornwaldt cysts (n = 2, 1.5%). The mean VAS pain score was 2.36 ± 1.08 on postoperative 12th hour and 1.21 ± 0.54 on postoperative third day. At the 6-month follow-up examination, there were no severe complications, such as recurrence, bleeding, or synechiae of the nasal cavity, eustachian tube injury, in any of the patients. CONCLUSIONS: The MWA for the treatment of isolated pharyngeal benign lesion is feasible and alternative to conventional surgical methods, it allows excision of the lesion while providing hemostasis, involves only a short ablation time and has a very low risk of complications. Most of our patients well-tolerate the procedure, which may be performed under local anesthesia in the outpatient setting.


Subject(s)
Ablation Techniques/methods , Endoscopy/methods , Microwaves/therapeutic use , Otorhinolaryngologic Surgical Procedures/methods , Pharyngeal Diseases/surgery , Pharynx/surgery , Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Pharyngeal Diseases/pathology , Pilot Projects , Prospective Studies , Treatment Outcome , Young Adult
6.
J Pathol ; 249(2): 182-192, 2019 10.
Article in English | MEDLINE | ID: mdl-31056746

ABSTRACT

Mutations in the Matrin 3 (MATR3) gene have been identified as a cause of amyotrophic lateral sclerosis (ALS) or vocal cord and pharyngeal weakness with distal myopathy (VCPDM). This study investigated the mechanism by which mutant MATR3 causes multisystem proteinopathy (MSP) including ALS and VCPDM. We first analyzed the muscle pathology of C57BL/6 mice injected with adeno-associated viruses expressing human WT or mutant (S85C) MATR3. We next generated transgenic mice that overexpress mutant (S85C) MATR3, driven by the CMV early enhancer/chicken ß-actin promoter, and evaluated their clinicopathological features. Intramuscular injection of viruses expressing WT and mutant MATR3 induced similar myogenic changes, including smaller myofibers with internal nuclei, and upregulated p62 and LC3-II. Mutant MATR3 transgenic mice showed decreased body weight and lower motor activity. Muscle histology demonstrated myopathic changes including fiber-size variation, internal nuclei and rimmed vacuoles. Spinal cord histology showed a reduced number of motor neurons, and activation of microglia and astrocytes. Comprehensive proteomic analyses of muscle demonstrated upregulation of proteins related to chaperones, stress response, protein degradation, and nuclear function. Overexpression of WT and mutant MATR3 similarly caused myotoxicity, recapitulating the clinicopathological features of MSP. These models will be helpful for analyzing MSP pathogenesis and for understanding the function of MATR3. © 2019 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.


Subject(s)
Amyotrophic Lateral Sclerosis/genetics , Distal Myopathies/genetics , Laryngeal Diseases/genetics , Muscle, Skeletal/metabolism , Mutation , Nuclear Matrix-Associated Proteins/genetics , Pharyngeal Diseases/genetics , RNA-Binding Proteins/genetics , Spinal Cord/metabolism , Amyotrophic Lateral Sclerosis/metabolism , Amyotrophic Lateral Sclerosis/pathology , Amyotrophic Lateral Sclerosis/physiopathology , Animals , Dependovirus/genetics , Disease Models, Animal , Distal Myopathies/metabolism , Distal Myopathies/pathology , Distal Myopathies/physiopathology , Gait Analysis , Gene Transfer Techniques , Genetic Predisposition to Disease , Humans , Laryngeal Diseases/metabolism , Laryngeal Diseases/pathology , Laryngeal Diseases/physiopathology , Mice, Inbred C57BL , Mice, Transgenic , Microtubule-Associated Proteins/metabolism , Motor Activity , Muscle, Skeletal/pathology , Muscle, Skeletal/physiopathology , Nuclear Matrix-Associated Proteins/metabolism , Pharyngeal Diseases/metabolism , Pharyngeal Diseases/pathology , Pharyngeal Diseases/physiopathology , RNA-Binding Proteins/metabolism , Rotarod Performance Test , Sequestosome-1 Protein/metabolism , Spinal Cord/pathology , Spinal Cord/physiopathology , Weight Loss
7.
Med Princ Pract ; 29(3): 279-284, 2020.
Article in English | MEDLINE | ID: mdl-31842016

ABSTRACT

OBJECTIVE: A tonsillolith is a concretion of the tonsillar crypt. The aim of this retrospective study was to compare panoramic radiography (PR) and cone-beam computed tomography (CBCT) for the detection of tonsilloliths. MATERIALS AND METHODS: The CBCT images of 527 patients with maxillofacial volume were evaluated retrospectively. Of these, 175 patients (81 females, 94 males; mean age 51.05 years) had unilateral or bilateral tonsilloliths. In total, 151 of them (67 females, 84 males; mean age, 51.03 years) had PR images performed in the same period and were included in the study. The PR images were examined to ascertain whether known tonsilloliths (from CBCT images) could be detected. The location (unilateral; left or right and bilateral), size, and number of the tonsilloliths were examined on both CBCT and PR images. Descriptive analysis, Spearman's rho correlation coefficient, and χ2 tests were used for the statistical analysis. RESULTS: The detection rate of tonsillolith was 33.2% on CBCT images. Only 51.4% of the tonsilloliths detected on CBCT were evaluated by PR; the correlation between CBCT and PR was found to be significant (Spearman's r = 0.399, p = 0.000). PR was not adequate to detect tonsilloliths 1 mm or smaller in size. All the calcifications larger than 5 mm were detected on PR images. CONCLUSION: The results of this study showed that more than half of the tonsilloliths observed in CBCT were also detected in PR. Tonsilloliths larger than 2 mm were more likely to be detected on PR images.


Subject(s)
Calcinosis/diagnostic imaging , Pharyngeal Diseases/diagnostic imaging , Adult , Aged , Calcinosis/diagnosis , Calcinosis/pathology , Cone-Beam Computed Tomography , Female , Humans , Male , Middle Aged , Pharyngeal Diseases/diagnosis , Pharyngeal Diseases/pathology , Radiography, Panoramic , Retrospective Studies
8.
Clin Exp Dermatol ; 44(5): e181-e188, 2019 Jul.
Article in English | MEDLINE | ID: mdl-30706506

ABSTRACT

A wide differential diagnosis must be entertained in patients with unusual oral and pharyngeal ulcerations. A mucosal biopsy is essential. We retrospectively reviewed 10 cases from the Infectious Diseases Division at Mayo Clinic Rochester (MN, USA), in which the diagnosis proved to be Histoplasma capsulatum infection. Between 1995 and 2016, 10 patients were diagnosed with oropharyngeal histoplasmosis. Common presenting symptoms included weight loss, weakness and oropharyngeal pain with ulcerations. Despite specialty evaluation at other facilities, diagnostic delay occurred in six patients due to lack of biopsy or fungal staining. Yeast forms consistent with H. capsulatum were identified in the biopsy specimens of all our patients. Treatment included intravenous amphotericin B and prolonged courses of azoles. Oral histoplasmosis occurred in both immunocompetent and immunosuppressed patients, and was a manifestation of disseminated infection. Severe pain involving all areas of the mouth was typical. Diagnostic delay may be avoided by early biopsy using fungal stains.


Subject(s)
Delayed Diagnosis , Histoplasmosis/diagnosis , Pharyngeal Diseases/diagnosis , Aged , Aged, 80 and over , Amphotericin B/therapeutic use , Antifungal Agents/therapeutic use , Biopsy , Complement Fixation Tests , Female , Histoplasmosis/drug therapy , Histoplasmosis/immunology , Histoplasmosis/pathology , Humans , Immunocompromised Host , Male , Middle Aged , Oropharynx/pathology , Pharyngeal Diseases/drug therapy , Pharyngeal Diseases/immunology , Pharyngeal Diseases/pathology , Retrospective Studies , Smoking , Tongue/pathology , Weight Loss
9.
Am J Emerg Med ; 37(10): 1932-1935, 2019 10.
Article in English | MEDLINE | ID: mdl-30691864

ABSTRACT

OBJECTIVES: To evaluate the interrater reliability of throat examinations in children according to the major and training stage. STUDY DESIGN: We performed a prospective observational study of interrater reliability. The participants included physicians with various amounts of experience and majors who were working in an urban, tertiary hospital. We collected 20 photos of the throats of children who presented to the pediatric emergency department (ED) and performed 2 surveys (with or without medical history). The primary outcome was the interrater agreement for pharyngeal injection (PI) and palatine tonsillar hypertrophy (PTH), and the secondary outcome was the interrater agreement for PI and PTH in subgroups of examiners divided by major and duration of clinical experience. RESULTS: Thirty-three examiners participated in this study. The overall percent agreement for PI was 0.669, and Fleiss' kappa was 0.296. The interrater reliability was similar before and after providing patients' medical history. The overall percent agreement for PTH was 0.408, and Kendall's W was 0.674. When the patients' medical history was provided, Kendall's W increased (0.692). In the subgroup analysis, Fleiss' kappa for PI ranged from 0.257 to 0.33, and Kendall's W for PTH ranged from 0.593 to 0.711. CONCLUSION: Examiners' agreement for PTH was more reliable than that for PI when evaluating children who visited the ED. The interrater reliability did not improve with increased clinical experience. These findings should be considered in the examination of pharyngeal pathology.


Subject(s)
Hypertrophy/pathology , Palatine Tonsil/pathology , Pharyngeal Diseases/pathology , Child , Emergency Service, Hospital , Humans , Observer Variation , Pharyngeal Diseases/drug therapy , Prospective Studies , Reproducibility of Results
10.
Dysphagia ; 34(4): 487-498, 2019 08.
Article in English | MEDLINE | ID: mdl-30927081

ABSTRACT

Detailed information on the hypopharyngeal cyst presentation, terminology, classification, diagnosis, management, and possible complication is scarce though it would lead to life-threatening symptoms. This review article, therefore, meticulously presents and analyzes the majority of the pertaining literature. In this context, a particular emphasis has been placed on the embryological development of the branchial arches while discussing each entity that would improve the current understanding of different pharyngeal cyst's pathologies.


Subject(s)
Cysts/pathology , Hypopharynx , Pharyngeal Diseases/pathology , Cysts/diagnosis , Humans , Hypopharynx/pathology , Pharyngeal Diseases/diagnosis
11.
Dysphagia ; 34(5): 713-715, 2019 10.
Article in English | MEDLINE | ID: mdl-31230142

ABSTRACT

The etiopathogenesis of Zenker's diverticulum (ZD) remains uncertain. Increased hypopharyngeal pressure due to a hypertonic upper esophageal sphincter results in herniation proximal to the sphincter producing a pulsion diverticulum. Gastroesophageal reflux, which is known to induce shortening of the injured esophagus, likely plays a prominent role in ZD formation by pulling the cricopharyngeus muscle (CPM) away from the anchored inferior constrictor muscle. This creates a "weak zone" encouraging herniation. A bilobed diverticulum may originate from continuation of the fibrous midline raphe inferiorly to developmentally include part of the CPM. We report using laser endoscopy to divide the inter-diverticular septum followed by transmucosal cricopharyngeus myotomy. Presentation of a rare, bilobed diverticulum emphasizes the importance of the midline prevertebral raphe in anchoring the pharyngeal constrictor muscles with respect to the CPM. This lends support to the hypothesis that the etiopathogenesis of ZD is multifactorial while guiding us to a unified understanding of ZD.


Subject(s)
Diverticulum/pathology , Pharyngeal Diseases/pathology , Zenker Diverticulum/pathology , Diverticulum/etiology , Esophageal Sphincter, Upper/pathology , Gastroesophageal Reflux/complications , Humans , Hypopharynx/pathology , Muscle Hypertonia/complications , Muscle Hypertonia/pathology , Pharyngeal Diseases/etiology , Pharyngeal Muscles/pathology , Pressure , Zenker Diverticulum/etiology
12.
Eur Arch Otorhinolaryngol ; 276(1): 203-208, 2019 Jan.
Article in English | MEDLINE | ID: mdl-30361788

ABSTRACT

OBJECTIVE: To evaluate the efficacy and safety of Chinese medicine in the treatment of adenoid hypertrophy in children. METHOD: Screening standard articles, extracting relevant data from meta-analysis, were analyzed by Revman5.1 software, by searching PubMed, Medline, VIP, Wan Fang and Chinese HowNet database 2006-2016 in traditional Chinese medicine treatment of children with adenoid literature. RESULTS: 206 articles met the inclusion criteria, of which ten were selected and included in the meta-analysis, and there were 803 patients. The results showed that the remission rate of the Chinese medicine treatment group was better than that of the Western medicine group. The combined effect of the amount of OR 2.06, 95% Cl (1.45, 2.96) and the combined effect of the amount of the test Z = 4.12, P < 0.00001 showed the recurrence of the disease was lower in traditional Chinese medicine treatment group than the Western medicine group. The combined effect of the amount of OR 3.05, 95% Cl (2.11, 4.56) and the combined effect of the amount of the test Z = 5.86, P < 0.00001 showed the total effective rate is high in the traditional Chinese medicine treatment group than the Western medicine group. The difference between the combined effect of the amount of OR 2.79, 95% Cl (1.78, 5.03) and the combined effect of the amount of the test of Z = 4.54, P < 0.00001 was statistically significant, which showed the treatment effect of Chinese medicine group is obviously better than the Western medicine group. CONCLUSION: The use of Chinese medicine for the treatment of children with adenoid hypertrophy has good clinical efficacy.


Subject(s)
Adenoids/pathology , Drugs, Chinese Herbal/therapeutic use , Medicine, Chinese Traditional , Pharyngeal Diseases/drug therapy , Child , Humans , Hypertrophy/drug therapy , Hypertrophy/pathology , Pharyngeal Diseases/pathology , Treatment Outcome
13.
Forensic Sci Med Pathol ; 15(3): 494-497, 2019 Sep.
Article in English | MEDLINE | ID: mdl-30390279

ABSTRACT

An 86-year-old woman with a history of angioedema was found dead at her home address. She had recently complained of a swollen tongue. At autopsy the tongue was grossly edematous, protruding from the mouth. There was also marked edema of the tonsillar fossae, epiglottis and glottic inlet, causing critical obstruction. Histology of the tongue and upper airway demonstrated marked submucosal edema. Death was attributed to upper airway obstruction due to angioedema of the tongue, oropharynx and glottic inlet. Angioedema is characterized by localized non-pitting edema of the deep dermis and subcutaneous/submucosal tissues. It may be acute or chronic, acquired or inherited. Sudden death may result from critical airway occlusion, although both stroke and ischemic heart disease are known to occur. Post mortem genetic testing for hereditary variants can be conducted for SERPING1 gene and F12 gene/THR328 mutations.


Subject(s)
Airway Obstruction/etiology , Angioedema/pathology , Edema/pathology , Aged, 80 and over , Edema/etiology , Epiglottis/pathology , Fatal Outcome , Female , Humans , Laryngeal Diseases/etiology , Laryngeal Diseases/pathology , Oropharynx/pathology , Palatine Tonsil/pathology , Pharyngeal Diseases/etiology , Pharyngeal Diseases/pathology , Tongue Diseases/etiology , Tongue Diseases/pathology
14.
Vet Radiol Ultrasound ; 59(5): 529-534, 2018 Sep.
Article in English | MEDLINE | ID: mdl-29931712

ABSTRACT

The aim of this retrospective study was to determine the frequency of pharyngeal collapse in a large group of brachycephalic dogs undergoing videofluoroscopic assessment of swallowing or airway diameter. We hypothesized that brachycephalic dogs would have pharyngeal collapse more frequently than dolichocephalic or mesocephalic dogs with or without airway collapse. The medical records database was searched for brachycephalic dogs undergoing videofluoroscopy of swallowing or airway diameter between January 1, 2006 and December 31, 2015. A cohort of dolichocephalic/mesocephalic dogs with videofluoroscopically confirmed airway collapse was age and time matched for comparison. A control group of dolichocephalic/mesocephalic dogs that did not have documented airway collapse was also evaluated. All fluoroscopic studies were assessed by a board certified veterinary radiologist for the presence and degree of pharyngeal collapse. Results demonstrate that pharyngeal collapse was significantly more common in brachycephalic dogs (58/82; 72%) than in nonbrachycephalic dogs with (7/25; 28%) and without (2/30; 7%) airway collapse. Pharyngeal collapse is more prevalent in brachycephalic dogs undergoing videofluoroscopy than in dolichocephalic/mesocephalic dogs with or without airway collapse.


Subject(s)
Dog Diseases/diagnostic imaging , Fluoroscopy/veterinary , Pharyngeal Diseases/veterinary , Pharynx/diagnostic imaging , Animals , Dog Diseases/pathology , Dogs , Female , Male , Pharyngeal Diseases/diagnostic imaging , Pharyngeal Diseases/pathology , Pharynx/physiopathology , Retrospective Studies , Trachea/diagnostic imaging , Trachea/physiopathology
15.
Vet Radiol Ultrasound ; 59(1): 54-63, 2018 Jan.
Article in English | MEDLINE | ID: mdl-28929544

ABSTRACT

The palatine tonsil is an uncommon site of oral canine neoplasia. For affected tonsils, squamous cell carcinoma is the most frequent type of neoplasia, followed by melanoma and lymphoma. Computed tomography (CT) is increasingly used for investigation of canine oropharyngeal pathology; however, limited information is available on the CT appearance of tonsillar neoplasms. Objectives of this retrospective descriptive case series were to characterize the CT features of canine tonsillar neoplasia and determine whether specific CT features differentiate nonneoplastic from neoplastic tonsils. Computed tomographic studies of 14 dogs diagnosed with tonsillar neoplasia were retrieved from two referral hospitals and reviewed by two observers. Diagnosis was based on histology or cytology. Carcinoma was diagnosed in 11 dogs, melanoma in two and lymphoma in one dog. Specific CT features of the tonsil and regional lymph nodes did not differentiate neoplastic from nonneoplastic tonsillar diseases, but regional lymph node CT features were useful for diagnosis in some cases. Marked enlargement (width ≥ 18 mm, 12/18), heterogeneity (16/18), and loss of the hypoattenuating hilus (18/18) of the medial retropharyngeal lymph node were common concomitant features of tonsillar neoplasia. The medial retropharyngeal and mandibular lymphadenomegaly was ipsilateral to the neoplastic tonsil in 8/12 and 6/9 dogs, respectively. Five dogs demonstrated little or no enlargement of the tonsil despite the associated metastatic lymphadenomegaly. Tonsillar neoplasia should therefore be considered as a differential diagnosis for dogs with CT evidence of isolated medial retropharyngeal lymphadenomegaly (regardless of normally sized tonsils), or of any enlarged tonsil with no associated lymphadenomegaly.


Subject(s)
Dog Diseases/diagnostic imaging , Palatine Tonsil/diagnostic imaging , Tomography, X-Ray Computed/veterinary , Tonsillar Neoplasms/veterinary , Animals , Dog Diseases/pathology , Dogs , Female , Male , Palatine Tonsil/pathology , Pharyngeal Diseases/diagnostic imaging , Pharyngeal Diseases/pathology , Pharyngeal Diseases/veterinary , Retrospective Studies , Tonsillar Neoplasms/diagnostic imaging , Tonsillar Neoplasms/pathology
16.
J Pediatr Hematol Oncol ; 38(2): 152-4, 2016 Mar.
Article in English | MEDLINE | ID: mdl-26794707

ABSTRACT

Cases of posterior pharyngeal masses are quite rare, and are typically derived from schwannoma or encephalocele, or are of vascular or infectious origin. They are clinically significant due to their tendency to cause airway obstruction. The aim of this study was to present a rare atypical marginal hyperplasia case of a posterior pharyngeal wall mass. A 10-year-old male was admitted to our clinic with dyspnea. A plane-surfaced 4 × 3 × 3 cm mass was observed on the posterior pharyngeal wall upon physical examination. The patient underwent magnetic resonance imaging and surgical treatment. Following excision of material from the patient's mass, a pathologic diagnosis of atypical marginal zone hyperplasia was made. Atypical marginal zone hyperplasia of the posterior pharyngeal wall has not yet been reported in the literature. Marginal zone hyperplasia associated with a lymphoproliferative disease should be considered when making differential diagnoses of posterior pharyngeal wall masses.


Subject(s)
Hyperplasia/pathology , Lymphoproliferative Disorders/pathology , Pharyngeal Diseases/pathology , Child , Humans , Male
17.
Clin Gastroenterol Hepatol ; 13(9): 1560-6, 2015 Sep.
Article in English | MEDLINE | ID: mdl-25264272

ABSTRACT

Although laryngopharyngeal reflux, also known as extraesophageal reflux (EER), was codified more than 25 years ago, it has not been characterized fully. There is no sensitive and specific diagnostic test, and its symptoms often are nonspecific and overlap with those of other conditions commonly seen in primary care and specialist practices. Otolaryngologists have an important role in the evaluation and management of these patients--they must investigate persistent reflux-attributed symptoms by direct visualization of the upper airway and larynx, and, in some circumstances, the esophagus. It is of utmost importance to rule out the possibility of malignancy, which often presents with symptoms similar to those of EER. Once cancer is excluded, many benign upper airway conditions also can masquerade as, and often incorrectly are attributed to, EER. Although reflux is a potential etiologic factor for upper-airway symptoms, it is important not to reflexively blame reflux. We discuss other etiologies that should be considered carefully for persistent symptoms.


Subject(s)
Diagnosis, Differential , Laryngopharyngeal Reflux/diagnosis , Laryngopharyngeal Reflux/pathology , Humans , Laryngeal Diseases/pathology , Laryngopharyngeal Reflux/drug therapy , Pharyngeal Diseases/pathology
18.
Ann Neurol ; 76(5): 669-80, 2014 Nov.
Article in English | MEDLINE | ID: mdl-25154462

ABSTRACT

OBJECTIVE: To characterize the phenotype of patients with distal myopathy with vocal cord and pharyngeal weakness due to the p.S85C mutation in the matrin-3 gene (MATR3, Mendelian Inheritance in Man 164015). Recently, it has been suggested that patients with this mutation may suffer from familial amyotrophic lateral sclerosis. METHODS: Sixteen patients from 6 families with late onset distal myopathy associated with the p.S85C MATR3 mutation were characterized. RESULTS: Patients had a predominantly distal muscle weakness, most severely affecting ankle and wrist dorsiflexion. Relevant proximal and axial weakness was found in 6 and respiratory impairment in 5 patients. Dysphagia was diagnosed in 6 and mild voice abnormalities were found in 7 patients. However, laryngoscopy revealed normal vocal cord function. Creatine kinase was normal or mildly elevated. Electromyographically, spontaneous activity was found in 10 of 14 patients and complex repetitive discharges in 9 of 14 patients. Magnetic resonance imaging revealed severe fatty degeneration of distal and upper posterior leg and of paraspinal muscles. Histopathology ranged from mild myopathic to severe dystrophic changes including vacuoles. Absence of sarcomeres in the perinuclear region and abnormal invaginations of nuclei were found ultrastructurally. Haplotype analysis showed a common disease-specific haplotype of the 6 families and suggested that these families form a separate cluster. INTERPRETATION: In contrast to the 2 previously reported families, MATR3-related distal myopathy might be associated with relevant axial, proximal, and respiratory muscle weakness but without vocal cord palsy. There were no clinical, electrophysiological, or histopathological signs of lower motor neuron involvement.


Subject(s)
Distal Myopathies/genetics , Distal Myopathies/pathology , Laryngeal Diseases/genetics , Laryngeal Diseases/pathology , Nuclear Matrix-Associated Proteins/genetics , Pharyngeal Diseases/genetics , Pharyngeal Diseases/pathology , RNA-Binding Proteins/genetics , Adult , Age of Onset , Deglutition Disorders/genetics , Deglutition Disorders/pathology , Female , Germany , Haplotypes , Heart Function Tests , Humans , Male , Middle Aged , Muscle Weakness/genetics , Muscle Weakness/pathology , Muscle, Skeletal/pathology , Respiratory Function Tests , Respiratory Muscles/pathology , Voice Disorders/genetics , Voice Disorders/pathology , Young Adult
19.
Br J Dermatol ; 173(2): 540-3, 2015 Aug.
Article in English | MEDLINE | ID: mdl-25639756

ABSTRACT

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis defined by heterogeneous multiorgan involvement. Due to the rarity of this disease strong evidence-based therapies have yet to be established and prognosis has previously been considered to be poor, with more than half of patients dying within 3 years of initial presentation. We describe an 86-year-old woman with a 34-year history of extensive cutaneous and internal nodules with typical pathological and immunophenotypical (CD68(+) /CD1a(-) ) features of ECD without evidence of the BRAF V600E mutation. The cosmetic appearance of cutaneous nodules and hoarse voice caused by vocal cord nodules has been managed surgically. More aggressive therapies reported for ECD were trialled for this patient, such as radiotherapy and interferon-α, with no response. This case demonstrates a relatively good prognosis in ECD that has been managed conservatively.


Subject(s)
Erdheim-Chester Disease/pathology , Mouth Diseases/pathology , Multiple Pulmonary Nodules/pathology , Pharyngeal Diseases/pathology , Skin Diseases/pathology , Aged, 80 and over , Bone Diseases/diagnostic imaging , Chronic Disease , Female , Humans , Magnetic Resonance Imaging , Multimodal Imaging , Radionuclide Imaging , Tomography, X-Ray Computed
20.
J Clin Gastroenterol ; 49(10): 837-47, 2015.
Article in English | MEDLINE | ID: mdl-25626632

ABSTRACT

BACKGROUND AND AIMS: Refractory benign gastrointestinal (GI) strictures represent a difficult management problem given the limited therapeutic interventions available. We performed a systematic review of all published cases using mitomycin C in the treatment of GI strictures. METHODS: Searches of MEDLINE and Embase databases were performed to identify studies reporting application of mitomycin C for GI strictures. Review of titles/abstracts, full review of potentially relevant studies, and data abstraction were performed independently by 2 authors. RESULTS: Of 549 citations, 24 studies with 145 patients (74% pediatric and 26% adult) met inclusion criteria. Esophageal strictures were the most common (79%) site of refractory strictures treated with mitomycin C, with caustic injury the most common underlying etiology. The concentration (range, 0.1 to 2 mg/mL; median, 0.4 mg/mL), number of applications (range, 1 to 12; median, 1), duration of applications (range, 1 to 5; median, 2 min), and technique of application (cotton pledget, spray, injection, special catheters) varied among studies. Ninety-one patients (73%; children: 80%, adults: 59%) had a complete response; 26 (21%) had a partial response. Only 1 (0.7%) adverse event was reported: cutaneous sclerosis attributed to microperforation and mitomycin C extravastion after injection. Mean follow-up was 23 (4 to 60) months. CONCLUSIONS: Local mitomycin C application seems to be a safe and effective therapy for benign refractory GI strictures of varying etiology in both pediatric and adult populations. Although the results of this systematic review are highly encouraging, it should be considered investigational. Additional randomized trials and larger prospective studies are needed to confirm these results and to better define the optimal dose, concentration, duration and technique of mitomycin C application.


Subject(s)
Esophageal Stenosis/drug therapy , Intestinal Diseases/drug therapy , Mitomycin/administration & dosage , Nucleic Acid Synthesis Inhibitors/administration & dosage , Pharyngeal Diseases/drug therapy , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Constriction, Pathologic/drug therapy , Female , Humans , Infant , Intestinal Diseases/pathology , Male , Middle Aged , Mitomycin/adverse effects , Nucleic Acid Synthesis Inhibitors/adverse effects , Pharyngeal Diseases/pathology , Young Adult
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