ABSTRACT
A 66 years old male presented with severe right-sided otalgia and throat pain, which persisted more than a year. He also complained of bilateral tinnitus. Tinnitus was continuous and high-pitched. Severe pain usually followed swallowing food. Pressing his right tonsil aggravated such symptoms. Pure tone audiogram showed both high frequencies hearing loss. Neck CT image revealed a small tonsillolith in his right tonsil. Gabapentin and non-steroidal anti-inflammatory drugs reduced the intensity of pain, but could not eradicate the pain. Finally, we performed radiofrequency tonsil ablation to eliminate right side tonsillolith. After ablation, pain immediately subsided and his tinnitus also disappeared. Tiny impacted tonsillolith may induce glossopharyngeal neuralgia and somatic tinnitus.
ABSTRACT
A case is presented to show tracheal cartilaginous sleeve in Antley-Bixler syndrome, which is the second case to be reported so far. In this patient, W290C mutation in FGFR2, the mutation previously known to cause Pfeiffer syndrome, was newly identified. After receiving tracheostomy, the patient recovered from repetitive respiratory distress, and retrieved normal respiratory function. Thorough airway examination and active surgical management such as tracheostomy is necessary in children with syndromic craniosynostosis, including Antley-Bixler syndrome.
ABSTRACT
Background and Objectives@#Measurement of sleep parameters in both supine and non-supine positions is important for the diagnosis of positional obstructive sleep apnea (OSA). However, the influence of right and left lateral decubitus positions (RLDP and LLDP, respectively) on sleep parameters is relatively unknown and has not been well investigated. This study was performed to verify the associations between sleep parameters and lateral decubitus sleep position. @*Methods@#A retrospective study was performed on 38 patients who were diagnosed with OSA and underwent surgical interventions from January 2014 to December 2016. Preoperative sleep parameters were evaluated with WatchPAT, and patients who slept sufficiently in both RLDP and LLDP to accurately analyze sleep parameters were enrolled in the study. Basic clinical data including body mass index (BMI) and nasal endoscopic findings of patients were assessed. @*Results@#The difference in peripheral arterial tonometry apnea-hypopnea index (pAHI) and PAT respiratory disturbance index (pRDI) between RLDP and LLDP showed no association with the side of deviated nasal septum. Patients with higher BMI showed higher pRDI in LLDP than RLDP (p=0.038). The difference in sleep position percentage between RLDP and LLDP was negatively correlated with the difference in pRDI (p=0.023). @*Conclusion@#Higher BMI patients with OSA might benefit more from sleeping in RLDP than LLDP. Patients slept longer in the lateral decubitus position that produced lower pRDI. Not only supine and non-supine positions, but also RLDP and LLDP need to be evaluated in patients with OSA.
ABSTRACT
Objectives@#. We, herein, report two novel USH2A variants from two unrelated Korean families and their clinical phenotypes, with attention to severe or more than severe sensorineural hearing loss (SNHL). @*Methods@#. Two postlingually deafened subjects (SB237-461, M/46 and SB354-692, F/34) with more than severe SNHL and also with suspicion of Usher syndrome type II (USH2) were enrolled. A comprehensive audiological and ophthalmological assessments were evaluated. We conducted the whole exome sequencing and subsequent pathogenicity prediction analysis. @*Results@#. We identified the following variants of USH2A from the two probands manifesting more than severe SNHL and retinitis pigmentosa (RP): compound heterozygosity for a nonsense (c.8176C>T: p.R2723X) and a missense variant (c.1823G>A: p.C608Y) in SB237, and compound heterozygosity for two frameshift variants (c.14835delT: p.S4945fs & c.13112_13115delAAAT: p.G4371fs) in SB354. Based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines, two novel variants, c.1823G>A: p.C608Y and c.14835delT: p.Ser4945fs, can be classified as “uncertain significance” and “pathogenic,” respectively. The audiogram exhibited more than severe SNHL and a down-sloping configuration, necessitating cochlear implantation. The ophthalmic examinations revealed typical features of RP. Interestingly, one proband (SB 354-692) carrying two truncating compound heterozygous variants exhibited more severe hearing loss than the other proband (SB 237-461), carrying one truncation with one missense variant. @*Conclusion@#. Our results provide insight on the expansion of audiological spectrum encompassing more than severe SNHL in Korean subjects harboring USH2A variants, suggesting that USH2A should also be included in the candidate gene of cochlear implantation. A specific combination of USH2A variants causing truncating proteins in both alleles could demonstrate more severe audiological phenotype than that of USH2A variants carrying one truncating mutation and one missense mutation, suggesting a possible genotype-phenotype correlation. The understanding of audiological complexity associated with USH2A will be helpful for genetic counseling and treatment starategy.
ABSTRACT
Traditionally, schizophrenia is considered to be a result of dopaminergic hyperactivity while dopaminergic deficiency underlies Parkinson’s disease (PD). This opposing pathophysiology makes comorbid schizophrenia and PD seemingly impossible; however, they do coexist rarely in clinical practice. We present four patients with paranoid schizophrenia diagnosed in their youth who developed parkinsonian symptoms on a stable regimen of quetiapine or clozapine after several years. The diagnosis of comorbid schizophrenia and PD was made mainly according to clinical observation. In addition, dopamine transporter (DAT) imaging with 18F-FP-CIT PET was done in two patients, which showed normal DAT density. It is believed that dopaminergic dysfunction in distinct dopaminergic pathways may explain the coexistence of these two disorders