Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been identified as the major gene involved in CCHS. This is the first report of a Korean neonate with CCHS confirmed to have a PHOX2B mutation with expanded alleles containing 20 polyalanine repeats that is a relatively small number compared to previous cases. The patient required intermittent ventilator support during sleep only and did not suffer from any other disorders of the autonomic nerve system. He consistently needs ventilator support during sleep and remains alive. Analysis of PHOX2B gene is useful for diagnosis and appropriate therapeutic intervention of CCHS patients.
Alleles ; Asian Continental Ancestry Group/*genetics ; Genotype ; Homeodomain Proteins/*genetics ; Humans ; Hypoventilation/congenital/*genetics ; Infant, Newborn ; Male ; Mutation ; Peptides/genetics ; Republic of Korea ; Sequence Analysis, DNA ; Transcription Factors/*genetics ; Ventilators, Mechanical

Poor control of bowel movement in some bed-ridden patients with various causes such as stroke or spinal cord injury which causes fecal leakage and diarrhea, increases the risk of perianal excoriation, bed sores and is a burden on caregivers. PURPOSE: To evaluate the efficacy of fecal evacuation, prevention and treatment of skin complications in intractable diarrhea patients employing a new device. METHODS: A continent anal plug (CAP: US Patent No. 5,569,216: Join Ent. Seoul, Korea) comprises an inner balloon surrounded by an external balloon both of which are mounted on a silicone tube containing a pair of air passages and an enema fluid inlet. The tube is secured in place in the rectum by the inflatable external balloon and is designed to drain fecal matter through a thin collapsible hose situated in the anal canal. Thirty two patients (21 male, median age 61 years, range; 28~76) were evaluated after fully informed consent. Median duration (range) was 12 (3~37) days. RESULTS: CAP evacuated efficiently in those with loose or watery stools who only required once daily irrigation or not. Skin excoriations improved in 3~7 days. Minimal leakage was seen around the anus. There was no anorectal mucosal injury noted over 37 days. Conclusions: The CAP was an efficient method of treating patients with loss of bowel control and incontinence because it enabled controlled fecal evacuation and helped reduction of skin complications without causing anorectal mucosal injury.
Anal Canal ; Bays ; Caregivers ; Diarrhea* ; Enema ; Humans ; Informed Consent ; Male ; Pressure Ulcer ; Rectum ; Seoul ; Silicones ; Skin ; Spinal Cord Injuries ; Stroke

Microscopic polyangiitis is a systemic small-vessel vasculitis that is associated primarily with necrotizing glomerulonephritis and pulmonary capillaritis. A recurrent and diffuse alveolar hemorrhage due to pulmonary capi llaritis is the main clinical manifestation of lung involvement. Recently, an interstitial lung disease that mimics idiopathic pulmonary fibrosis was reported to be rarely associated with microscopic polyangiitis. Here we report two patients with microscopic polyangiitis who showed a honeycomb lung at the time of the initial diagnosis with a brief review of relevant literature.
Diagnosis ; Glomerulonephritis ; Hemorrhage ; Humans ; Idiopathic Pulmonary Fibrosis ; Lung Diseases, Interstitial ; Lung* ; Microscopic Polyangiitis* ; Vasculitis

BACKGROUND/AIMS: Liver stiffness measurement (LSM) has been proposed as a non-invasive method for estimating the severity of fibrosis and the complications of cirrhosis. Measurement of the hepatic venous pressure gradient (HVPG) is the gold standard for assessing the presence of portal hypertension, but its invasiveness limits its clinical application. In this study we evaluated the relationship between LSM and HVPG, and the predictive value of LSM for clinically significant portal hypertension (CSPH) and severe portal hypertension in cirrhosis. METHODS: LSM was performed with transient elastography in 59 consecutive cirrhotic patients who underwent hemodynamic HVPG investigations. CSPH and severe portal hypertension were defined as HVPG > or =10 and > or =12 mmHg, respectively. Linear regression analysis was performed to evaluate the relationship between LSM and HVPG. Diagnostic values were analyzed based on receiver operating characteristic (ROC) curves. RESULTS: A strong positive correlation between LSM and HVPG was observed in the overall population (r2=0.496, P<0.0001). The area under the ROC curve (AUROC) for the prediction of CSPH (HVPG > or =10 mmHg) was 0.851, and the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for an LSM cutoff value of 21.95 kPa were 82.5%, 73.7%, 86.8%, and 66.7%, respectively. The AUROC at prediction of severe portal hypertension (HVPG > or =12 mmHg) was 0.877, and the sensitivity, specificity, PPV, and NPV at LSM cutoff value of 24.25 kPa were 82.9%, 70.8%, 80.6%, and 73.9%, respectively. CONCLUSIONS: LSM exhibited a significant correlation with HVPG in patients with cirrhosis. LSM could be a non-invasive method for predicting CSPH and severe portal hypertension in Korean patients with liver cirrhosis.
Adult ; Aged ; Alcohol-Related Disorders/complications ; Area Under Curve ; *Elasticity Imaging Techniques ; Female ; Hepatitis B/complications ; Hepatitis C/complications ; Humans ; Hypertension, Portal/*complications/*diagnosis ; Linear Models ; Liver Cirrhosis/*complications/*diagnosis/pathology ; Male ; Middle Aged ; ROC Curve ; Republic of Korea ; Sensitivity and Specificity

In case of loss of many teeth due to dental caries or periodontal disease, improvement of masticatory function and aesthetics can be obtained through implant treatment. However, if the patient does not have a normal intercondylar relationship, it is difficult to achieve an ideal occlusal relationship with only prosthetic treatment. In particular, oral reconstruction with orthodontic treatment or orthognathic surgery is necessary for patients with mandibular prognathism. However, if the posterior occlusion collapses due to severe caries or periodontal disease, orthognathic surgery may be difficult. The occlusal vertical stop is very important for the stability of the mandibular position during occlusal reconstruction through orthognathic surgery. The patient in this case had posterior occlusion collapsed due to the caries of a large number of posterior teeth, and showed mandibular prognathism and long face. We planned a full arch restoration with orthognathic surgery and extracted the hopeless teeth. To secure the vertical stop required for orthognathic surgery, the implant was placed before surgery. After the orthognathic surgery and the final prosthesis application, the results were satisfactory for the improvement of the aesthetics and the restoration of the masticatory function.
Dental Caries ; Dental Implants ; Esthetics ; Humans ; Malocclusion ; Malocclusion, Angle Class III ; Orthognathic Surgery* ; Periodontal Diseases ; Prognathism* ; Prostheses and Implants ; Tooth*