BACKGROUND: Cervical vestibular evoked myogenic potential (cVEMP) testing is a strong tool that enables objective determination of balance functions in humans. However, it remains unknown whether cVEMP correctly expresses vestibular disorder in mice. OBJECTIVE: In this study, correlations of cVEMP with scores for balance-related behavior tests including rotarod, beam, and air-righting reflex tests were determined in ICR mice with vestibular disorder induced by 3,3'-iminodipropiontrile (IDPN) as a mouse model of vestibular disorder. METHODS: Male ICR mice at 4 weeks of age were orally administered IDPN in saline (28 mmol/kg body weight) once. Rotarod, beam crossing, and air-righting reflex tests were performed before and 3-4 days after oral exposure one time to IDPN to determine balance functions. The saccule and utricles were labeled with fluorescein phalloidin. cVEMP measurements were performed for mice in the control and IDPN groups. Finally, the correlations between the scores of behavior tests and the amplitude or latency of cVEMP were determined with Spearman's rank correlation coefficient. Two-tailed Student's t test and Welch's t test were used to determine a significant difference between the two groups. A difference with p < 0.05 was considered to indicate statistical significance. RESULTS: After oral administration of IDPN at 28 mmol/kg, scores of the rotarod, beam, and air-righting reflex tests in the IDPN group were significantly lower than those in the control group. The numbers of hair cells in the saccule, utricle, and cupula were decreased in the IDPN group. cVEMP in the IDPN group was significantly decreased in amplitude and increased in latency compared to those in the control group. cVEMP amplitude had significant correlations with the numbers of hair cells as well as scores for all of the behavior tests in mice. CONCLUSIONS This study demonstrated impaired cVEMP and correlations of cVEMP with imbalance determined by behavior tests in a mouse model of vestibular disorder.
Animals ; Behavior, Animal ; drug effects ; physiology ; Disease Models, Animal ; Hair Cells, Vestibular ; pathology ; Male ; Mice ; Mice, Inbred ICR ; Nitriles ; adverse effects ; Postural Balance ; drug effects ; physiology ; Saccule and Utricle ; pathology ; Sensation Disorders ; chemically induced ; physiopathology ; Vestibular Diseases ; chemically induced ; diagnosis ; pathology ; physiopathology ; Vestibular Evoked Myogenic Potentials ; drug effects ; physiology ; Vestibular Function Tests

PURPOSE: To assess the urodynamic findings in patients with Parkinson disease (PD) with overactive bladder symptoms. METHODS: We performed a retrospective chart review of all PD patients who were seen in an outpatient clinic for lower urinary tract symptoms (LUTS) between 2010 and 2017 in a single-institution. Only patients who complained of overactive bladder (OAB) symptoms and underwent a video-urodynamic study for these symptoms were included. We excluded patients with neurological disorders other than PD and patients with voiding LUTS but without OAB symptoms. RESULTS: We included 42 patients (29 men, 13 women, 74.5±8.1 years old). Seven patients (16.7%) had a postvoid residual (PVR) bladder volume >100 mL and only one reported incomplete bladder emptying. Detrusor overactivity (DO) was found in all 42 patients (100%) and was terminal in 19 (45.2%) and phasic in 22 patients (52.4%). Eighteen patients had detrusor underactivity (DU) (42.3%). Later age of PD diagnosis was the only parameter associated with DU (P=0.02). Patients with bladder outlet obstruction (BOO) were younger than patients without BOO (70.1 years vs. 76.5 years, P=0.004), had later first sensation of bladder filling (173.5 mL vs. 120.3 mL, P=0.02) and first involuntary detrusor contraction (226.4 mL vs. 130.4 mL, P=0.009). CONCLUSIONS: DO is almost universal in all patients with PD complaining of OAB symptoms (97.1%). However, a significant percentage of patients also had BOO (36.8%), DU (47%), and increased PVR (16.7%) indicating that neurogenic DO may not be the only cause of OAB symptoms in PD patients.
Ambulatory Care Facilities ; Diagnosis ; Female ; Humans ; Lower Urinary Tract Symptoms ; Male ; Nervous System Diseases ; Parkinson Disease ; Parkinsonian Disorders ; Retrospective Studies ; Sensation ; Urinary Bladder ; Urinary Bladder Neck Obstruction ; Urinary Bladder, Overactive ; Urinary Incontinence ; Urodynamics

Swallowing can be affected by a variety of systemic diseases. The etiology of dysphagia in the geriatric population is usually overlooked due mainly to a presumed diagnosis of presbyphagia or difficulty in revealing the direct cause. On the other hand, dysphagia can be a meaningful clinical sign of premalignant systemic disease. A 78-year-old man, without any prior medical or family history, was admitted with the chief complaint of dysphagia with recent aspiration pneumonia. Instrumental swallowing tests revealed a severe degree of dysphagia due to decreased laryngopharyngeal sensation and weakness of the pharyngeal constrictor muscles. Extensive workup, including electromyography and laboratory tests, revealed severe sensorimotor peripheral polyneuropathy related to monoclonal gammopathy. Monoclonal gammopathy of undetermined significance (MGUS) is a premalignant precursor of multiple myeloma, which is characterized by the proliferation of monoclonal proteins. These conditions are often associated with peripheral polyneuropathy, ataxia, and sometimes even muscle weakness. Although dysphagia can occur in other systemic disorders, such as vasculitis or paraneoplastic syndrome-related malignancies, there are few reports of dysphagia related to MGUS. The patient was followed up for three years. The MGUS showed no further progression, but the patient showed no improvement, indicating a protracted clinical course and poor prognosis when dysphagia is related to MGUS.
Aged ; Ataxia ; Deglutition ; Deglutition Disorders ; Diagnosis ; Electromyography ; Hand ; Humans ; Monoclonal Gammopathy of Undetermined Significance ; Multiple Myeloma ; Muscle Weakness ; Muscles ; Paraproteinemias ; Pneumonia, Aspiration ; Polyneuropathies ; Prognosis ; Sensation ; Vasculitis

Historically, Eagle syndrome is a term that has been used to describe radiating pain in the orofacial region, foreign body sensation, and/or dysphagia due to a unilateral or bilateral elongated styloid process impinging upon the tonsillar region. Because elongated styloid processes–with or without associated Eagle syndrome–can present with various symptoms and radiographic findings, it can be challenging for healthcare practitioners to formulate an accurate diagnosis. Abnormal styloid anatomy can lead to a multitude of symptoms, including chronic orofacial/neck pain, thus masquerading as more commonly diagnosed conditions. In this report, we describe a patient who presented to our department with styloid process elongation and fracture. A careful history, physical examination, and a conebeam computed tomography (CBCT) investigation led to the diagnosis. The patient was then referred for appropriate care. This case report demonstrates the utilization of CBCT in differentiating a fracture site from a pseudo-joint that might mimic a fracture.
Cone-Beam Computed Tomography ; Deglutition Disorders ; Delivery of Health Care ; Diagnosis ; Eagles ; Foreign Bodies ; Humans ; Neck Pain ; Neck ; Physical Examination ; Sensation

Hansen's disease(HD) is a chronic infectious disorder acquired by inoculation of Mycobacterium leprae. With the establishment of complex multidrug therapy, the incidence rate of leprosy patients has continually shown to decline by 90% compared to the incidence rate in the 1990s. However, the prevalence of the disease still remains high in southeast asian countries. Due to the rarity and diverse nature of cutaneous presentation, HD is often misdiagnosed with other dermatoses or infectious conditions. Especially, when a patient presents with unusual presentation with leprosy reaction with no classical feature such as sensory disorders and skin lesion, the diagnosis is further delayed with misguided treatments. Herein we present a 27-year-old Indonesian immigrant who displayed clinical features mimicking that of orbital cellulitis who was later diagnosed with borderline lepromatous leprosy through histologic and PCR confirmation, in light of alerting the probability of leprosy in immigrants with intractable skin presentations.
Adult ; Asian Continental Ancestry Group ; Diagnosis ; Emigrants and Immigrants ; Humans ; Incidence ; Leprosy ; Leprosy, Borderline ; Leprosy, Multibacillary ; Mycobacterium leprae ; Orbit ; Orbital Cellulitis ; Polymerase Chain Reaction ; Prevalence ; Sensation Disorders ; Skin ; Skin Diseases

Restless legs syndrome (RLS) is a neurological disorder characterized by an irresistible urge to move one's body to stop uncomfortable or odd sensations. It most commonly affects the legs. Moving the affected body part, such as walking or stretching provide relief the urge to move the legs and any accompanying unpleasant sensation partially or totally. RLS is relatively common, affecting 5 to 15 % of the general population, with prevalence rates increasing alongside age. Restless legs syndrome can lead to sleep-onset or sleep-maintenance insomnia, and occasionally excessive daytime sleepiness, all leading to significant morbidity. Dopaminergic systems are known to be strongly related with RLS that are closely linked to CNS iron homeostasis. Besides defective dopaminergic system that is closely related with iron metabolism, genetic factors play a role in early-onset individual with a positive family history. The diagnosis can be made based on the symptom characteristics, differential diagnosis is important because many conditions could mimic RLS symptoms. Dopamine agonists (DAs) have been considered the first-line therapy, but with the growing appreciation of problems associated with long-term treatment, particularly augmentation and impulse control disorder, alpha-2-delta drugs, such as gabapentin, are now considered the first line of treatment in patients with troublesome RLS. In more severe cases, a combination therapy may be required.
Diagnosis* ; Diagnosis, Differential ; Dopamine Agonists ; Homeostasis ; Humans ; Iron ; Leg ; Metabolism ; Nervous System Diseases ; Prevalence ; Restless Legs Syndrome* ; Sensation ; Sleep Initiation and Maintenance Disorders ; Walking

BACKGROUND/AIMS: Proton pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a newly recognized form of eosinophilic esophagitis (EoE) that responds to PPI therapy. It remains unclear whether PPI-REE represents a subphenotype of gastroesophageal reflux disease, a subphenotype of EoE, or its own distinct entity. The aim was to evaluate the clinicopathologic features of PPI-REE. METHODS: Six patients were diagnosed with PPI-REE based on symptoms, endoscopic abnormalities, esophageal eosinophilia with > or =15 eosinophils/high-power field, and a response to PPI treatment. Symptoms and endoscopic and pathological findings were evaluated. RESULTS: The median follow-up duration was 12 months. Presenting symptoms included dysphagia, heartburn, chest pain, foreign body sensation, acid reflux, and sore throat. All patients had typical endoscopic findings of EoE such as esophageal rings, linear furrows, nodularity, and whitish plaques. Three patients had a concomitant allergic disorder, and one had reflux esophagitis. Four patients exhibited elevated serum IgE, and five had positive skin prick tests. All patients experienced symptomatic resolution within 4 weeks and histologic resolution within 8 weeks after starting PPI therapy. There was no symptomatic recurrence. CONCLUSIONS: PPI therapy induced rapid resolution of symptoms and eosinophil counts in patients with PPI-REE. Large-scale studies with long-term follow-up are warranted.
Adult ; Asian Continental Ancestry Group ; Chest Pain/etiology ; Deglutition Disorders/etiology ; Diagnosis, Differential ; Eosinophilic Esophagitis/complications/*drug therapy/*pathology ; Esophagus/pathology ; Female ; Follow-Up Studies ; Gastroesophageal Reflux/etiology ; Heartburn/etiology ; Humans ; Male ; Middle Aged ; Pharyngitis/etiology ; Phenotype ; Proton Pump Inhibitors/*therapeutic use ; Republic of Korea ; Retrospective Studies ; Sensation Disorders/etiology ; Treatment Outcome ; Young Adult

Hearing loss is one of the most common sensory disorders and has numerous environmental and genetic factors that influence its onset and development. Hearing loss can be classified by either the affected anatomic or functional lesion of hearing loss, or as conductive or sensorineural hearing loss (SNHL). Genetic factors account for about 50% of congenital SNHL, and are therefore the most common cause. Molecular genetics research has identified more than 100 genes related to hearing and hearing loss, and shown that the risk of hearing loss caused by non-genetic factor is modified by genetic susceptibility. About 30% of genetic hearing loss is syndromic related and has affected phenotypic markers in other organs that make it easier to correctly diagnose the etiology of the hearing loss. In some cases, hearing loss can precede the pathologies of other organs and in these cases, hearing loss acts as a predictor of the syndrome associated pathologies of other organs. Inheritance of nonsyndromic hearing loss follows common inheritance patterns such as autosomal dominant, autosomal recessive, sex chromosome related, and mitochondrial inheritances. The paucity of predominant phenotypes and ethnic specificity of the prevalence and types of mutations may hinder the genetic diagnosis in nonsyndromic hearing loss. However, progress in elucidating the causal mutations is going forward using stratified genetic diagnostic strategies of candidate genes identified by hearing phenotypes and patterns of inheritance.
Diagnosis ; Fibrinogen ; Genetic Predisposition to Disease ; Genetics ; Hearing ; Hearing Loss* ; Hearing Loss, Sensorineural ; Inheritance Patterns ; Molecular Biology ; Pathology ; Phenotype ; Prevalence ; Risk Factors ; Sensation Disorders ; Sensitivity and Specificity ; Sex Chromosomes ; Wills

Eagle's syndrome is a disease caused by an elongated styloid process or calcified stylohyoid ligament. Eagle defined the disorder in 1937 by describing clinical findings related to an elongated styloid process, which is one of the numerous causes of pain in the craniofacial and cervical region. The prevalence of individuals with this anatomic abnormality in the adult population is estimated to be 4% with 0.16% of these individuals reported to be symptomatic. Eagle's syndrome is usually characterized by neck, throat, or ear pain; pharyngeal foreign body sensation; dysphagia; pain upon head movement; and headache. The diagnosis of Eagle's syndrome must be made in association with data from the clinical history, physical examination, and imaging studies. Patients with increased symptom severity require surgical excision of the styloid process, which can be performed through an intraoral or an extraoral approach. Here, we report a rare case of stylohyoid ligament bilaterally elongated to more than 60 mm in a 51-year-old female. We did a surgery by extraoral approach and patient's symptom was improved.
Adult ; Deglutition Disorders ; Diagnosis ; Eagles ; Ear ; Female ; Foreign Bodies ; Head Movements ; Headache ; Humans ; Ligaments ; Middle Aged ; Neck ; Pharynx ; Physical Examination ; Prevalence ; Sensation

Eagle syndrome is a rare condition caused by elongation of the styloid process or calcification of the stylohyoid ligament. Patients with Eagle syndrome typically present with dysphagia, dysphonia, cough, voice changes, otalgia, sore throat, facial pain, foreign body sensation, headache, vertigo, and neck pain. Here we report a case in which the patient initially presented with sore throat, left-sided facial pain, and cough. This case report provides a brief review of the diagnosis and nonsurgical management of this rare syndrome.
Cough ; Deglutition Disorders ; Diagnosis ; Dysphonia ; Eagles ; Earache ; Facial Pain ; Foreign Bodies ; Headache ; Humans ; Ligaments ; Neck Pain ; Ossification, Heterotopic ; Pharyngitis ; Sensation ; Temporal Bone ; Vertigo ; Voice