• Journal of Genetic Medicine
• /
• v.11 no.1
• /
• pp.11-15
• /
• 2014

Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system characterized by a decreased response to hypercarbia. CCHS is frequently associated with congenital megacolon; the combination is called Haddad syndrome. CCHS is associated with dysfunction in respiratory features of the autonomic nervous system and with other disorders, including facial deformities, cardiovascular symptoms, and tumors. Patients with CCHS frequently have a mutation in the homeobox protein 2b (PHOX2B) gene. Most mutations involve heterozygous expansion of alanine repeats (GCN). Interestingly, a higher polyalanine repeat number is associated with a more severe clinical phenotype. To clarify the role of PHOX2B in disease pathogenesis, we introduce and review the clinical and molecular features of CCHS and Haddad syndrome.

• Clinical and Experimental Pediatrics
• /
• v.57 no.1
• /
• pp.1-18
• /
• 2014

Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis). The field of channelopathies is expanding rapidly, as is the utility of molecular-genetic and electrophysiological studies. This review provides a brief overview and update of channelopathies, with a focus on recent advances in the pathophysiological mechanisms that may help clinicians better understand, diagnose, and develop treatments for these diseases.

• Journal of Korean Physical Therapy Science
• /
• v.13 no.2
• /
• pp.121-127
• /
• 2006

Consideration for therapy method and oral motor function character of children with cerebral palsy. Therapists who treat for feeding disorder children owing the regression of oral motor function are necessary to gain knowledge about dysfunction of sensing, perception and cognition with baffling to eat and inhibition of primitive reflex, oral anatomy and function, and motor control (trunk, head, positioning of the upper limbs and the lower limbs and muscle tone). Oral motor function program is a comprehensive rehabilitation program which requires systematized enforcement and collaborated attempts to physiotherapists, occupational therapists, speech therapists, psychotherapists. Especially, physical therapists are not accustomed to oral motor program, hoping to provide diffusely and apply new therapy approach method for many areas (bell's palsy, respiratory failure, speech articulation). It will comprise to study owing to holistic approach with clinic.

• The Journal of Korean Physical Therapy
• /
• v.12 no.3
• /
• pp.361-368
• /
• 2000

MET is one of the few physical therapy having its own criteria. Mr. Holten approached the Norwegian Health Authority in 1967 to get his MET System recognized as a treatment method of its own. He was granted his approval for his exercise system's specivic criteria connecteed with the treatment method. In MET, the patient exercises himself without manual participation by physiotherapists, however, under continuous supervision.. The apparatus should be designed that functional quality (arthrogenous, circulatory, respiratory, neuromuscular) in question is optimally influenced when the patient carries out exercise in a certain range against a graded resistance. The therapy reassesses the scheme of treatment at least every fifth session and the maximum number of patients being 5 person per hour. The important principles in medical exercise Therapy are stabilization of hyperfunction through the system of autostabilization and mobilization of hypofunction through automobilization. In MET excrcises are adjusted to the patient's reactions. MET equipment is therefore made to meet requirements for treating patients with painful pathological dysfunction in the musculo-skeletal system.

• Sleep Medicine and Psychophysiology
• /
• v.14 no.1
• /
• pp.13-19
• /
• 2007

Sleep disordered breathing is highly prevalent in the elderly and affects older men and women similarly. Nocturia, cardiovascular diseases, cognitive impairment, traffic accidents and repeated falls are common manifestations of sleep apnea in the elderly and sleep study may be indicated in these patients. When a sleep study is planned, reliable markers of respiratory efforts and a tibial EMG should be included because central sleep apneas and periodic leg movements are common in the elderly patients. Although cardiovascular morbidity and mortality seem to be lower in the elderly than in middle-aged adults, these may not be as low as commonly believed. Excessive daytime sleepiness, cognitive dysfunction and nocturia can be improved by effective treatment with continuous positive airway pressure and a therapeutic trial should be recommended to all symptomatic patients. It is still unclear whether sleep apnea in older adults is a specific entity or the same disease as in younger adults. Further clinical research is warranted.

• Tuberculosis and Respiratory Diseases
• /
• v.69 no.3
• /
• pp.184-190
• /
• 2010

Background: The purpose of this study was to determine the prognostic significance of chest computed tomographic (CT) parameters in acute submassive pulmonary embolism (PE). Methods: Between January 2006 and December 2009, 268 consecutive patients with acute submassive PE that was confirmed by chest CT with pulmonary angiography in emergency room were studied. One experienced radiologist measured CT parameters and judged the presence of right ventricular dysfunction. CT parameters were analyzed to determine their ability to predict a major adverse event (MAE). Results: There were 220 patients included and 61 (27.7%) had MAE. Left ventricular and right ventricular maximum minor axis ($36.4{\pm}8.0$ vs. $41.7{\pm}7.4$, p<0.01; $45.7{\pm}9.4$ vs. $41.5{\pm}7.6$, p<0.01), superior vena cava diameter ($19.2{\pm}3.4$ vs. $18.0{\pm}3.4$, p=0.02), azygos vein diameter ($10.0{\pm}2.2$ vs. $9.2{\pm}2.3$, p=0.02), septal displacement (19 vs. 18, p<0.01) were significantly higher in MAE group than in no MAE group. Patients with MAE had high right ventricular/left ventricular dimension ratio (RV/LV ratio) compared to patients without MAE ($1.34{\pm}0.48$ vs. $1.03{\pm}0.28$, p<0.01). The most useful cut-off value of RV/LV ratio for MAE was 1.3 and the area under the curve was 0.71 (0.62~0.79). Conclusion: RV/LV ratio on chest CT was a significant predictor of submassive PE related shock, intubation, in-hospital mortality, thrombolysis, thrombectomy within 30 days.

• Annals of Occupational and Environmental Medicine
• /
• v.35
• /
• pp.39.1-39.14
• /
• 2023

Background: Diseases affecting the lungs and airways contribute significantly to the global burden of disease. The problem in low- and middle-income countries appears to be exacerbated by a shift in global manufacturing base to these countries and inadequate enforcement of environmental and safety standards. In Ghana, the potential adverse effects on respiratory function associated with occupational wood dust exposure have not been thoroughly investigated. Methods: Sixty-four male sawmill workers and 64 non-woodworkers participated in this study. The concentration of wood dust exposure, prevalence and likelihood of association of respiratory symptoms with wood dust exposure and changes in pulmonary function test (PFT) parameters in association with wood dust exposure were determined from dust concentration measurements, symptoms questionnaire and lung function test parameters. Results: Sawmill workers were exposed to inhalable dust concentration of 3.09 ± 0.04 mg/m³ but did not use respirators and engaged in personal grooming habits that are known to increase dust inhalation. The sawmill operators also showed higher prevalence and likelihoods of association with respiratory symptoms, a significant cross-shift decline in some PFT parameters and a shift towards a restrictive pattern of lung dysfunction by end of daily shift. The before-shift PFT parameters of woodworkers were comparable to those of non-woodworkers, indicating a lack of chronic effects of wood dust exposure. Conclusions: Wood dust exposure at the study site was associated with acute respiratory symptoms and acute changes in some PFT parameters. This calls for institution and enforcement of workplace and environmental safety policies to minimise exposure at sawmill operating sites, and ultimately, decrease the burden of respiratory diseases.

• Tuberculosis and Respiratory Diseases
• /
• v.62 no.5
• /
• pp.389-397
• /
• 2007

Background B-type natriuretic peptide (BNP) has been shown to be strong mortality predictors in a wide variety of cardiovascular syndromes. Little is known about BNP in patients with acute respiratory distress syndrome (ARDS). We studied whether BNP can predict mortality in patients with ARDS. Method Echocardiographic study was done to all patients with ARDS, and we excluded patient with low ejection fraction (less than 50%) or showing any features of diastolic dysfunction. 47 patients were enrolled between December, 2003 and February, 2006. Parameters including BNP were obtained within 24h hours at the time of enrollment. Result Mean BNP concentrations and APACHE II scores differed between the survivors and nonsurvivors (BNP, $219.5{\pm}57.7pg/mL$ vs $492.3{\pm}88.8pg/mL$; p=0.013, APACHE II score, $17.4{\pm}1.6$ vs $23.1{\pm}1.3$, p=0.009, respectively). With the use of the threshold value for BNP of 585 pg/mL, the specificity for the prediction of mortality was 94%. The threshold value for APACHE II of 15.5 showed sensitivity of 87%. 'APACHE II + $11{\times}logBNP$' showed sensitivity 63%, and specificity 82%, using threshold value for 46.14. Conclusion BNP concentrations and APCHE II scores were more elevated in nonsurvivors than survivors in patients with ARDS who have normal ejection fraction. BNP can predict mortality. Further study should be done.

• Tuberculosis and Respiratory Diseases
• /
• v.58 no.3
• /
• pp.285-290
• /
• 2005

Background : Some malignancies including lymphoma, head and neck cancer, and lung cancer are believed to be associated with the reactivation of tuberculosis (TB) because cyclic anti-cancer chemotherapy can induce the leukopenia or immunological deterioration. This report describes the clinical characteristics and treatment response of TB that developed during cyclic anti-cancer chemotherapy in patients with a solid tumor. Materials and Methods : From January 1 2000 to July 31 2004, patients with TB diagnosed microbiologically, pathologically, or clinically during anti-cancer chemotherapy in a tertiary hospital were enrolled, and their medical records were reviewed. Patients with the known risk factors for the reactivation of TB were excluded. Results : Twenty-two patients were enrolled and their mean age was 56.5 years (range 21-78). The male to female ratio was 3.4:1 and pulmonary TB was the main variant (20 patients, 90.9%). Gastric cancer (10 patients, 45.4%) and lymphoma (4 patients, 18.2%) were the leading underlying malignancies. The other malignancies included lung cancer, head and neck cancer, breast cancer, cervix cancer, and ovary cancer. Fifteen patients (68.2%) had a healed scar on a simple chest radiograph suggesting a previous TB infection. Among these patients, new TB lesions involved the same lobe or the ipsilateral pleura in 13 patients (87.6%). An isoniazid and rifampicin based regimen were started in all the subjects except for one patient with a hepatic dysfunction. The mean duration of medication was $9.9{\pm}2.4$ months and no adverse events resulting in a regimen change were observed. With the exception of 5 patients who died of the progression of the underlying malignancy, 70.6% (12/17) completed the anti-TB treatment. Conclusion : The clinical characteristics and response to anti-TB treatment for TB that developed during anticancer chemotherapy for a solid tumor were not different from those of patients who developed TB in the general population.

• Tuberculosis and Respiratory Diseases
• /
• v.40 no.3
• /
• pp.250-258
• /
• 1993

Background: After general anesthesia, decrease of functional residual capacity and lung compliance, ventilation/perfusion imbalance, and transpulmonary shunting can provoke hypoxemia during postoperative periods. Diaphragmatic dysfunction may be the main cause of these physiological abnormalities. Thus, we evaluated the change of pulmonary function after general anesthesia according to the operative sites, which could suggest clinical course and critical period of respiratory care of postoperative patients. Method: Preoperative portable spirometric evaluation and arterial blood gas analysis were performed at sitting or most-sitting position just previous day of surgery. Pulmonary function tests were also as same condition from postoperative day 1 to day 5. Results: 1) For thoracic surgery, FEV1 and FVC were not recovered at day 5, but FEV1/FVC was not decreased. $PaCO_2$ was slightly elevated at postoperative one day. 2) After upper abdominal surgery, postoperative day 5 did not show the recovery of FEV1 and FVC, but mild hypoxemia was developed at postoperative day 1. 3) Pulmonary function was recovered as preoperative value at postoperative day 5 in lower abdominal operation, but mild hypoxemia was also noted at postoperative day 1. 4) Surgery of peripheral areas did not show significant pulmonary function change and hypoxemia and hypercapnia from postoperative day 1. Conclusion: Surgery involving diaphragm provoke significant postoperative pulmonary function change after day 5. For the operation of peripheral sites adequate respiratory care during operation and postoperative period within 24 hours could prevent patients from respiratory complication.