• Tuberculosis and Respiratory Diseases
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• v.65 no.3
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• pp.207-211
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• 2008

X-linked agammaglobulinemia is the most common type of primary immunodeficiency disorder. Mutation ofthe cytoplasmic tyrosine kinase gene, Btk (Bruton's tyrosine kinase), is known to be the etiology of X-linked agammaglobulinemia. The patients with this disease manifest a B-cell deficiency and low levels of serum immunoglobulin; due to the deficient antibodies, they suffers from recurrent upper and lower respiratory infections. We report here a 24-year-old male with an initial clinical impression of recurrent pneumonia and bronchiectasis. The patient presented with marked pan-hypogammaglobulinemia and the absence of circulating B-lymphocytes on the immunologic study, and he carried a splicing mutation of intron 2 in the Btk gene (IVS2 -3C>G).

• BMB Reports
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• v.45 no.8
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• pp.427-432
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• 2012

Primary cilia, single hair-like appendage on the surface of the most mammalian cells, were once considered to be vestigial cellular organelles for a past century because of their tiny structure and unknown function. Although they lack ancestral motility function of cilia or flagella, they share common ground with multiciliated motile cilia and flagella on internal structure such as microtubule based nine outer doublets nucleated from the base of mother centrioles called basal body. Making cilia, ciliogenesis, in cells depends on the cell cycle stage due to reuse of centrioles for cell division forming mitotic spindle pole (M phase) and assembling cilia from basal body (starting G1 phase and maintaining most of interphase). Ciliary assembly required two conflicting processes such as assembly and disassembly and balance between these two processes determines the length of cilia. Both process required highly conserved transport system to supply needed substance to grow tip of cilia and bring ciliary turnover product back to the base of cilia using motor protein, kinesin and dynein, and transport protein complex, IFT particles. Disruption of ciliary structure or function causes multiple human disorder called ciliopathies affecting disease of diverse ciliated tissues ranging from eye, kidney, respiratory tract and brain. Recent explosion of research on the primary cilia and their involvement on animal development and disease attracts scientific interest on how extensively the function of cilia related to specific cell physiology and signaling pathway. In this review, I introduce general features of primary cilia and recent progress in understanding of the ciliary length control and signaling pathways transduced through primary cilia in vertebrates.

• Neonatal Medicine
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• v.25 no.1
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• pp.44-48
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• 2018

Platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T), is one of the pheno-types of type II collagenopathy and is characteristic of severe bone growth disorder. This phenotype may limit the growth and expansion of the lungs, which is known to cause death from respiratory failure during or shortly after birth, but in few less severe cases, patients have been reported to have survived to adulthood. We have experienced a case of PLSD-T in a preterm infant who was delivered via cesarean section at the gestational age of 29 weeks 3 days, with a birth weight of 1.15 kg. Physical examination of the infant revealed characteristic findings of short arms and legs, small thorax, distended abdomen, and cleft palate. On the basis of the subsequent genetic testing, the patient had a heterozygous mutation in the encoded c-propeptide region of collagen, type II, alpha 1 (COL2A1), c.4335G>A ($p.Trp1445^{\ast}$) in exon 52. This is the first case of PLSD-T diagnosed in Korea, and we hereby report the case.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.27 no.1
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• pp.5-10
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• 2016

Variable systemic diseases affect larynx and vocal fold and result in voice change. Asthma and chronic obstructive pulmonary disease make increase of intra-abdomimal pressure followed by reflux of gastric acid, which stimulate vagal-bronchopulomary reflex aggravating cough and respiratory disturbance. Fungal laryngitis in the general population is extremely rare, but can occur in immunocompromised AIDS patients. Although, initially, empirical antifungal therapy for candidiasis is often given without biopsy, diagnostic direct laryngoscopy and biopsy is imperative if a substantial clinical response is not rapidly achieved. In the highly active anti-retroviral therapy era, HIV-positive patients are living longer and are at higher risk for developing non-AIDS-defining malignancies. The incidence of head and neck cancer (HNC) which is related with human papilloma virus infection has increased. The survival is significantly lower among the AIDS-HNC patients with CD4 counts ${\leq}200cells/{\mu}L$. Rheumatoid arthritis (RA) cause voice disturbance by developing cricoarytenoid joints fixation or nodule on vocal fold. Post-menopausal voice disorder (PMVD) is caused by decreased secretion of estrogen-progesterone resulting in decrease of fundamental frequency (F0). Hormonal replacement therapy is helpful to reduce F0 decrease. RA and PMVD result in slight voice change, but it could crucial in professional voice user.

• Clinical and Experimental Pediatrics
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• v.50 no.12
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• pp.1252-1256
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• 2007

Meconium ileus (MI) is the earliest clinical manifestation of cystic fibrosis (CF) in infants. It arises from the intraluminal accumulation of highly viscid, protein-rich meconium, typically present in the terminal ileum as a neonatal intestinal obstruction. Therefore, the clinical symptoms include abdominal distension, bilious vomiting and delayed passage of meconium. CF is caused by mutations in the transmembrane conductance regulator gene (CFTR) located in the long arm of chromosome 7. CF is common in Caucacians, but is a rare disorder in Asian countries, including Korea. We experienced a case of CF combined with MI. Compared with the previous reports of CF in Korea which presented respiratory problems, this is the first case genetically diagnosed as CF with MI during the newborn period.

• The Transactions of the Korean Institute of Electrical Engineers D
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• v.55 no.5
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• pp.240-247
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• 2006

Frequent arousals during sleep degrade the quality of sleep and result in sleep fragmentation. Visual inspection of physiological signals to detect the arousal events is cumbersome and time-consuming work. The purpose of this study is to develop an automatic algorithm to detect the arousal events. The proposed method is based on time-frequency analysis and the support vector machine classifier using single channel electroencephalogram (EEG). To extract features, first we computed 6 indices to find out the informations of a subject's sleep states. Next powers of each of 4 frequency bands were computed using spectrogram of arousal region. And finally we computed variations of power of EEG frequency to detect arousals. The performance has been assessed using polysomnographic (PSG) recordings of twenty patients with sleep apnea, snoring and excessive daytime sleepiness (EDS). We could obtain sensitivity of 79.65%, specificity of 89.52% for the data sets. We have shown that proposed method was effective for detecting the arousal events.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.30 no.4
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• pp.345-348
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• 2004

Cephalic tetanus is a rare subtype of tetanus in which trismus is a charateristic symptom. The paralysis of one or more cranial nerves can occur. The 7th cranial nerve is most frequently involved. It account for 1 to 3% of the tetanus and has a mortality of 15 to 30%. The incubation period is 1 to 14 days, and approximately two thirds of tetanus cases progress to generalized tetanus. Generally, the symptoms of cephalic tetanus can include : facial pain, trismus, dysphagia, muscle twitching spasms of the face and jaw (risus sardonicus), neck stiffness and malaise. We present a case of cephalic tetanus who 54-year male patient had trismus and dysphagia. There was no history of trauma. As there was a delay in diagnosis of cephalic tetanus, respiratory disorder and intermittent general spasm occurred. The patient was treated by injection of antibiotics, muscle relaxant, and human anti-tetanus immunoglobulin. His symptoms were disappeared, and he was discharged ambulatory.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.3 no.1
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• pp.22-25
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• 2007

Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) characterized by severe hypoglycemia caused by inappropriate over secretion of insulin is the most common cause of hypoglycemia in early infancy. The symptoms of hypoglycemia in neonate and infancy are neonatal sepsis, respiratory difficulty, tachypnea, apnea, cyanosis, and seizure. Especially the recurrent and severe hypoglycemia within $1^{st}$ year of life is responsible for severe and irreversible brain damage. To prevent it aggressive treatment is required. Due to severe and irreversible brain damage these children frequently require anesthesia during imaging procedures such as MRI or during various dental surgical procedures. Because of frequent hypoglycemia and dental phobia in children with neurologic disorder, anesthesiologists should pay attention to patient. We report a successful anesthetic management in a patient with PHHI for dental procedures.

• The Journal of Korean Medicine
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• v.22 no.4
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• pp.131-141
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• 2001

Objectives : Asthma is a chronic inflammatory disorder in which the airway smooth muscle undergoes exaggerated constriction and is abnormally responsive to external stimuli and clinically manifests dyspnea, cough, and wheezing. Recently in Korea, the number of asthma patients has tended to increase as air pollution increases and new allergens appear. This study aimed to identify the therapeutic effects of Sochongryong-tang, which has been used on asthmatic patients in Oriental Medicine for a long time. Methods : We studied 10 asthmatic patients who had visited the Division of Respiratory System, Department of Internal Medicine of Kyunghee Oriental Medical Center from February 1, 2001 to June 30, 2001, which examined the patients by the pulmonary function test (PFT) and Quality of Life Questionnaire for adult Korean Asthmatics (QLQAKA) before and after taking Sochongryong-tang for two weeks. The data was analyzed using paired t-test. Results : After treatment with Sochongryong-tang for two weeks, FEV 1.0 showed a significant increase of 14.2%, FVC a significant increase of 9.3% and PEFR a significant increase of 16.2% in results of patients examined asthmatic by PFT. In the results of QLQAKA, the mean of scores increased significantly over 0.5 points in total score, symptom domain, emotion domain, and environmental domain. Conclusions : This study shows that Sochongryong-tang has the effect of improvements of pulmonary function and quality of life in asthmatic patients.

• Clinical and Experimental Pediatrics
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• v.48 no.2
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• pp.216-220
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• 2005

Pulmonary arteriovenous fistulas(PAVFs) is a rare disorder that occurs in two to three children per 100,000 population. It is presented as absence of intervening capillary beds between the pulmonary artery and vein with resultant persistent right to left shunt. Other causes include trauma, liver cirrhosis, malignancy and schistosomiasis. It is mostly asymptomatic, but it may present with respiratory difficulty, cyanosis, clubbed fingers induced by right to left shunt or hemoptysis, polycythemia and epistaxis. Major complications, such as brain abscess, brain embolism, paradoxical embolism and subacute infective endocarditis can be devastating, so therapeutic intervention is recommended in all patients. However, removal of low-resistance fistulas can aggrevate pulmonary hypertension, so detection of increased pulmonary pressure is important. We report two patients : One a 42 year-old male with PAVFs treated with coil embolization, and a 42 year-old female who was treated with anticoagulants due to pulmonary hypertension.