• Journal of Genetic Medicine
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• 제15권2호
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• pp.87-91
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• 2018

X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Cardiac involvement is a common manifestation and is the leading cause of death in Danon disease. We report a case of a 24-month-old boy with hemizygous LAMP2 mutation who presented with failure to thrive and early-onset hypertrophic cardiomyopathy. We applied targeted exome sequencing and found a novel hemizygous c.692del variant in exon 5 of the LAMP2 gene, resulting a frameshift mutation p.Thr231Ilefs*11. Our study indicates that target next-generation sequencing can be used as a fast and highly sensitive screening method for inherited cardiomyopathy.

• Pediatric Infection and Vaccine
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• 제19권2호
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• pp.43-54
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• 2012

Group B streptococcus (GBS) is the leading cause of neonatal sepsis and meningitis in developed countries. This article reviews the neonatal invasive GBS disease, maternal GBS colonization, and prevention strategies in the context of recent epidemiological changes in Korea. Although Korean neonates had been supposed to have low incidence of invasive GBS disease, GBS has been recently reported to be the most common cause of invasive neonatal infection after 1990s. Among Korean pregnant women, GBS carriage rate in the vagina and rectum has been reported to be much lower than that in Western countries. However, it has increased in recent studies. For decision making about preventive strategy for neonatal GBS disease in Korea, further studies are required in terms of the incidence of neonatal GBS infection and serotype distribution. In addition, studies about maternal carriage rate and serotype distribution have to be continued.

• 대한후두음성언어의학회지
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• 제27권2호
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• pp.87-90
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• 2016

Cough, the most common symptom, encountered in the outpatient clinic can be caused by various underlying diseases. It defines as chronic cough that the duration of cough is more than 8 weeks with a normal chest X-ray findings. The cause of cough can be found out for more than 90% through the appropriate diagnostic approach and Upper airway cough syndrome, Asthma and Gastroesophageal reflex disease are the most common causes of disease to non-smokers. Chronic cough can be due to not one reason but various reasons and achieve good results by a systematic approach to diagnosis and a concrete treatment on the basis of the sufficient understanding of the underlying disease.

• 대한한방소아과학회지
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• 제17권1호
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• pp.87-97
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• 2003

Cerebrovascular disease in children is more common than once recognized and the etiology and prognosis of the disease in children are quite different from those of adults. In Korea, the most common cause of stroke is moyamoya disease in ischemic stroke, arteriovenous malformation in hemorrhagic stroke. We experienced two cases of ischemic stroke in childhood whose symptoms are similar to that of adults. They had cerebrovascular malformation(narrowing of ICA, MCA, basilar artery). we treated them with herb medicine, acupuncture treatment, laser acupuncture treatment and physical treatment. After treatment, they recovered from the stroke symptoms, but the primary cause of stroke was not eliminated, so it is thought that more follow up is needed. We report that we had good effects of oriental medical treatment on two case of cerebral infarction in children.

• Archives of Plastic Surgery
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• 제50권2호
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• pp.216-219
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• 2023

Neisseria gonorrhoeae is the most common sexually transmitted disease in the world and is known to cause disseminated disease, most commonly tenosynovitis. Classically, gonorrhea-associated tenosynovitis presents with concomitant dermatitis and arthralgias, though this is not always the case. N. gonorrhoeae-related tenosynovitis has become more commonly seen by hand surgeons. To aid in management, we present three cases of gonorrhea-induced tenosynovitis spanning a range of presentations with variable treatments to demonstrate the variety of patients with this disease. Only one of our patients had a positive gonococcal screening test and no patient had purulent urethritis, the most common gonorrhea-related symptom. A separate patient had the classic triad of tenosynovitis, dermatitis, and arthralgias. Two patients underwent operative irrigation and debridement, and one was managed with anti-gonococcal antibiotics alone. Though gonorrhea is a rare cause of flexor tenosynovitis, it must always be on the differential for hand surgeons when they encounter this diagnosis. Taking an appropriate sexual history and performing routine screening tests can assist in the diagnosis, the prescription of appropriate antibiotics, and potentially avoiding an unnecessary operation.

• Clinical and Experimental Pediatrics
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• 제60권3호
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• pp.77-85
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• 2017

Purpose: Fever is one of the most common symptoms in children. In previous studies, infectious disease was the most common cause of pediatric fever of unknown origin (FUO). The aim of this study is to investigate the etiology, clinical characteristics and prognosis of pediatric FUO in 21 century with more diagnostics available and to analyze the factors for certain disease categories. Methods: Among the children under 18 years old who were hospitalized at Samsung Medical Center from January 2000 to December 2014, the patients who met the criteria including fever of ${\geq}38.0^{\circ}C$ for longer than ${\geq}14days$ and failure to reach a diagnosis after one week of investigations were included. Results: Total 100 patients were identified. Confirmed diagnosis was achieved in 57 patients (57%). Among them, infectious diseases (n=19, 19%) were most common, followed by connective tissue diseases (n=15, 15%), necrotizing lymphadenitis (n=8, 8%), and malignancies (n=7, 7%). Children with fever duration over 28 days had a trend for higher frequency of connective tissue diseases (28.3%) except undiagnosed etiology. The symptoms such as arthritis, lymph node enlargement and only fever without other symptoms were significantly related with connective tissue diseases, necrotizing lymphadenitis and undiagnosed respectively (P<0.001). Ninety-two patients have become afebrile at discharge and 1 patient died (1%). Conclusion: Almost half of our patients were left without diagnosis. Although it has been known that infectious disease was most common cause of pediatric FUO in the past, undiagnosed portion of FUO have now increased due to development of diagnostic techniques for infectious diseases.

• 대한한방소아과학회지
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• 제13권1호
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• pp.167-180
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• 1999

Diarrhea is the most common digestive disease next to influenza especially in chidren. The most important spleen function is that of transporting and transforming food and fluids. Any spleen disharmomny will therefore always influence the digestive process, with such symptom as abdominal distention, lack of appetite and loose stools. The results were as follows: 1. The most common causes of diarrhea were cold(寒) Fire(熱) Dampness(濕) and the other causes of diarrhea were Fear(驚) 담(Phlegm) spleen-Qi defiency(脾氣虛), injury diet(傷食). 2.Treatment of oriental medicine consist of herb-medicine Cause of cold is Bujaejungtang(附子理中湯) Cause of fire is Sungbisan(醒脾散) Cause of dampness is Oryungsan(五笭散)

• Clinical and Experimental Pediatrics
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• 제59권11호
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• pp.432-439
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• 2016

Asthma is recognized as a complex disease resulting from interactions between multiple genetic and environmental factors. Accumulating evidence suggests that respiratory viral infections in early life constitute a major environmental risk factor for the development of childhood asthma. Respiratory viral infections have also been recognized as the most common cause of asthma exacerbation. The advent of molecular diagnostics to detect respiratory viruses has provided new insights into the role of human rhinovirus (HRV) infections in the pathogenesis of asthma. However, it is still unclear whether HRV infections cause asthma or if wheezing with HRV infection is simply a predictor of childhood asthma. Recent clinical and experimental studies have identified plausible pathways by which HRV infection could cause asthma, particularly in a susceptible host, and exacerbate disease. Airway epithelial cells, the primary site of infection and replication of HRV, play a key role in these processes. Details regarding the role of genetic factors, including ORMDL3, are beginning to emerge. This review discusses recent clinical and experimental evidence for the role of HRV infection in the development and exacerbation of childhood asthma and the potential underlying mechanisms that have been proposed.

• 수면정신생리
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• 제9권1호
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• pp.9-13
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• 2002

Alzheimer's disease (AD) is one of the most common and devastating dementing disorders of old age. Most AD patients showed significant alternation of sleep structure as well as cognitive deficit. Typical findings of sleep architecture in AD patients include lower sleep efficiency, higher stage 1 percentage, and greater frequency of arousals. The slowing of EEG activity is also noted. Abnormalities in REM sleep are of particular interest in AD because the cholinergic system is related to both REM sleep and AD. Several parameters representing REM sleep structure such as REM latency, the amount of REM sleep, and REM density are change in patients with AD. Especially, measurements of EEG slowing during tonic REM sleep can be used as an EEG marker for early detection of possible AD. In addition, a structural defect in the suprachiasmatic nucleus is suggested to cause various chronobiological alternations in AD. Most of alternations related to sleep make sleep disturbances common and disruptive symptoms of AD. In this article, the author reviewed the alternation of sleep structure and circadian rhythm in AD patients.

• Journal of Chest Surgery
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• 제28권4호
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• pp.340-345
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• 1995

Between 1983 and 1993, 250 patients over 16 years of age who had undergone a surgical correction of a congenital cardiovascular disease were reviewed. 222 patients were divided into acyanotic group and 28 patients were cyanotic group. The most common defects were atrial septal defect [96 patients and ventricular septal defect [95 patients . There were 128 patients in the third decade, 71 patients under 20 years of age, 40 patients in the fourth decade and 11 patients over 40 years of age. The male to female ratio was 1.05:1. Operative mortality was 6.8% [4.1% in the acyanotic group and 26.8% in the cyanotic group and the most common cause of death was low cardiac output syndrome.