Pseudohypoparathyroidism (PHP) is a group of genetic disorders in which the kidneys fail to respond to parathyroid hormone. Genetic defects in the GNAS complex locus lead to reduced Gsalpha (alpha-subunit of the heterotrimeric stimulatory G protein) activity in PHP type Ia patients. These patients exhibit characteristics of Albright hereditary osteodystrophy (AHO) and hypocalcemia, increased parathyroid hormone, and resistance to other Gsalpha protein-coupled hormones. AHO has a wide range of manifestations such as short stature, obesity, round face, subcutaneous ossification, and bone shortening in the hands and feet. In this study, we present the case of a 47-yr-old woman who was diagnosed with PHP type Ia with AHO. She showed tetany, dizziness, irritability to light, decreased visual acuity, cognitive impairment, and motor dysfunction. Direct sequencing identified a heterozygous missense mutation in exon 6 (c.466G>A, p.Asp156Asn) in GNAS1. To our knowledge, this case is the first report in Korea of PHP type Ia caused by a heterozygous missense mutation in exon 6 (c.466G>A, p.Asp156Asn) in GNAS1.
Dizziness ; Exons ; Female ; Foot ; Hand ; Humans ; Hypocalcemia ; Kidney ; Korea ; Mutation, Missense ; Obesity ; Parathyroid Hormone ; Pseudohypoparathyroidism* ; Tetany ; Visual Acuity

OBJECTIVE: To investigate the characteristics and risk factors of dysphagia with the Videofluoroscopic Dysphagia Scale (VDS) using a videofluoroscopic swallowing study (VFSS) in patients with ruptured aneurysmal subarachnoid hemorrhage (aSAH). METHODS: Data of 64 patients presenting with first-ever ruptured aSAH were analyzed. Characteristics of dysphagia were evaluated using VFSS and all subjects were divided into a high (>47) and low risk group (≤47) by the VDS score. Clinical and functional parameters were assessed by medical records including demographics, hypertension and diabetes mellitus (DM), the Glasgow Coma Scale (GCS), the Hunt and Hess scale, endotracheal intubation, acute management modalities, as well as Korean version of the Mini-Mental Status Examination (K-MMSE) and Korean version of Modified Barthel Index (K-MBI). Radiologic factors identified the amount of hemorrhage, ventricular rupture, and aneurysmal location. RESULTS: About a half of the subjects showed oral phase abnormalities and the oral transit time was delayed in 46.8% of the patients. The pharyngeal transit time was also prolonged in 39.0% of the subjects and the proportion of penetration and aspiration observed was 46.8%. The parameters-GCS score (p=0.048), hemorrhagic volume (p=0.028), presence of intraventricular hemorrhage (p=0.038), and K-MMSE (p=0.007)-were predisposing factors for dysphagia in patients with aSAH. CONCLUSION: Abnormalities in the oral phase were more prominent in patients with aSAH than in those with other types of stroke. The risk factors associated with dysphagia persisting over 6 months after stroke onset were the initial GCS, hemorrhage volume, presence of intraventricular hemorrhage, and cognitive status as measured by the K-MMSE.
Aneurysm* ; Aneurysm, Ruptured ; Causality ; Deglutition ; Deglutition Disorders* ; Demography ; Diabetes Mellitus ; Fluoroscopy ; Glasgow Coma Scale ; Hemorrhage ; Humans ; Hypertension ; Intubation, Intratracheal ; Medical Records ; Risk Factors* ; Rupture ; Stroke ; Subarachnoid Hemorrhage*

Objectives: The Korea Centers for Disease Control and Prevention has published “A Guideline for Unknown Disease Outbreaks (UDO).” The aim of this report was to introduce tabletop exercises (TTX) to prepare for UDO in the future. Methods: The UDO Laboratory Analyses Task Force in Korea Centers for Disease Control and Prevention in April 2018, assigned unknown diseases into 5 syndromes, designed an algorithm for diagnosis, and made a panel list for diagnosis by exclusion. Using the guidelines and laboratory analyses for UDO, TTX were introduced. Results: Since September 9th , 2018, the UDO Laboratory Analyses Task Force has been preparing TTX based on a scenario of an outbreak caused by a novel coronavirus. In December 2019, through TTX, individual missions, epidemiological investigations, sample treatments, diagnosis by exclusions, and next generation sequencing analysis were discussed, and a novel coronavirus was identified as the causal pathogen. Conclusion Guideline and laboratory analyses for UDO successfully applied in TTX. Conclusions drawn from TTX could be applied effectively in the analyses for the initial response to COVID-19, an ongoing epidemic of 2019 - 2020. Therefore, TTX should continuously be conducted for the response and preparation against UDO.