• Journal of Genetic Medicine
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• 제18권1호
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• pp.24-30
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• 2021

Epigenetics deals with modifications in gene expression, without altering the underlying DNA sequence. Genomic imprinting is a complex epigenetic phenomenon that refers to parent-of-origin-specific gene expression. Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are congenital imprinting disorders with mirror opposite alterations at the genomic loci in 11p15.5 and opposite phenotypes. BWS and SRS are important imprinting disorders with the increase of knowledge of genetic and epigenetic mechanisms. Altered expression of the imprinted genes in 11p15.5, especially IGF2 and CDKN1C, affects fetal and postnatal growth. A wide range of imprinting defects at multiple loci, instead of a restricted locus, has been shown in some patients with either BWS or SRS. The development of new high-throughput assays will make it possible to allow accurate diagnosis, personalized therapy, and informative genetic counseling.

• Journal of Korean Neurosurgical Society
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• 제62권3호
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• pp.265-271
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• 2019

The expansion and folding of the cerebral cortex occur during brain development and are critical factors that influence cognitive ability and sensorimotor skills. The disruption of cortical growth and folding may cause neurological disorders, resulting in severe intellectual disability and intractable epilepsy in humans. Therefore, understanding the mechanism that regulates cortical growth and folding will be crucial in deciphering the key steps of brain development and finding new therapeutic targets for the congenital anomalies of the cerebral cortex. This review will start with a brief introduction describing the anatomy of the brain cortex, followed by a description of our understanding of the proliferation, differentiation, and migration of neural progenitors and important genes and molecules that are involved in these processes. Finally, various types of disorders that develop due to malformation of the cerebral cortex will be discussed.

• Investigative Magnetic Resonance Imaging
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• 제25권4호
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• pp.281-292
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• 2021

Cranial-nerve disorders can be caused by a wide spectrum of diseases, including congenital, inflammatory, and tumorous diseases, and are often encountered in practice. However, the imaging of cranial-nerve disorders is challenging, and understanding the anatomical differences of each region is essential for conducting the best protocols and for detecting subtle changes in cranial nerves during magnetic resonance imaging (MRI) examinations. In this review we discuss which MRI techniques are best for observing normal and pathologic appearance, according to the different regions of the cranial nerves.

• Journal of Genetic Medicine
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• 제20권2호
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• pp.70-74
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• 2023

CCCTC-binding factor (CTCF) is a transcriptional regulator that binds to a complex DNA motif in various orientations and plays a crucial role in regulating gene expression, chromatin restructuring, and developmental processes. Mutations in the CTCF are associated with neurodevelopmental disorders. Here we report the first Korean case with a de novo heterozygous variant in the CTCF (c.1025G>A; p.Arg342His). She showed global developmental delay, failure to thrive, and dysmorphic face, which are phenotypes consistent with previous reports in the autosomal dominant intellectual developmental disorder 21 (MIM 615502). She also showed clinical features not previously reported, such as antral web and tracheobronchomalacia. Our case follows suit and expands understanding of this rare disorder by reporting common features and, on the other hand, unreported concomitant congenital anomalies.

• 대한구순구개열학회지
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• 제4권1호
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• pp.45-53
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• 2001

악골유합증은 두경부의 매우 드문 선천적 기형으로, 상악과 하악간의 골성 유합이 그 특징이다. 저자들은 좌측 상악, 하악 및 관골궁의 골성 유합을 보이는 1 예를 경험하였고, 골성 유합의 분리를 위한 수술을 시행하였으며, 이후 장기 예후 관찰기간중 개구제한의 점차적인 재발을 관찰하였기에 이에 보고하는 바이다.

• 말소리와 음성과학
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• 제6권4호
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• pp.141-148
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• 2014

Voice is the most common means for communication, but some people have difficulties in generating voice due to their congenital or acquired disorders. Individuals with speech disorders might lose their speaking ability due to hearing impairment, encephalopathy or cerebral palsy accompanied by motor skill impairments, or autism caused by mental problems. However, they have needs for communication, so some of them use various types of AAC (Augmentative & Alternative Communication) devices in order to meet their communication needs. In this paper, a mobile application for literate people having speech disorder was designed and implemented by developing accurate and fast sentence-completion functions for efficient user interaction. From a user study and the previous study on Korean text-based communication for adults having difficulty in speech communication, we identified functionality and usability requirements. Specifically, the user interface with scanning features was designed by considering the users' motor skills in using the touch-screen of a mobile device. Finally, we conducted the usability test for the application. The results of the usability test show that the application is easy to learn and efficient to use in communication with people with speech disorders.

• Journal of Yeungnam Medical Science
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• 제16권1호
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• pp.125-130
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• 1999

저자들은 최근 25세 여자 환자로 뚜렷한 가족력이 없으면서 3-4세경부터 발생한 근육의 강직현상과 현저한 근비대소견이 있는 환자를 경험하였다. 임상적으로 타진성 근긴장증을 보이고 전기생리적 검사로 새끼손가락 외향근에서의 운동과 반복신경자극에서 복합근육활동전위의 감소를 보였으며, 이두박근의 근생검 소견상 용적이 증가된 근섬유와 중심핵화현상이 관찰되었다. 환자는 mexiletin 경구 투여후 근육의 강직현상이 다소 호전되었다. 이에 문헌고찰과 함께 Becker형 선천성 근긴장증 1례를 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제53권6호
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• pp.680-687
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• 2010

Patients with congenital heart diseases (CHD) are confronted with early- and late-onset complications, such as conduction disorders, arrhythmias, myocardial dysfunction, altered coronary flow, and ischemia, throughout their lifetime despite successful hemodynamic and/or anatomical correction. Rhythm disturbance is a well-known and increasingly frequent cause of morbidity and mortality in patients with CHD. Predisposing factors to rhythm disturbances include underlying cardiac defects, hemodynamic changes as part of the natural history, surgical repair and related scarring, and residual hemodynamic abnormalities. Acquired factors such as aging, hypertension, diabetes, obesity, and others may also contribute to arrhythmogenesis in CHD. The first step in evaluating arrhythmias in CHD is to understand the complex anatomy and to find predisposing factors and hemodynamic abnormalities. A practical stepwise approach can lead to diagnosis and prompt appropriate interventions. Electrophysiological assessment and management should be done with integrated care of the underlying heart defects and hemodynamic abnormalities. Catheter ablation and arrhythmia surgery have been increasingly applied, showing increasing success rates with technological advancement despite complicated arrhythmia circuits in complex anatomy and the difficulty of access. Correction of residual hemodynamic abnormalities may be critical in the treatment of arrhythmia in patients with CHD.

• Clinical and Experimental Pediatrics
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• 제57권6호
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• pp.257-263
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• 2014

The incidence of people living with congenital heart disease (CHD) has been increasing every year owing to remarkable advances in surgical and catheter intervention techniques and devices, and improved knowledge of critical care for patients with CHD. However, these patients continue to face physical, psychosocial, and environmental challenges, and a number of studies have shown higher rates of depression and anxiety disorders than the general population. To improve psychosocial functioning and quality of life for adults with CHD, health care providers are recommended to inform CHD patients of an accurate diagnosis, and overall treatment process, beginning in adolescence to facilitate a smooth transition from adolescence to adulthood. Active cooperation with psychiatrists, psychologists, social workers, chaplains, and family members is highly recommended to help CHD patients feel normal and optimistic and to promote good social interactions, close family relationships, and a strong sense of coherence.

• Neonatal Medicine
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• 제15권2호
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• pp.190-195
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• 2008

저자들은 항-E항체에 의한 신생아 동종 면역성 용혈성 질환 환아에서 생후 8일째 담낭내 오니가 있고 4개월, 9개월, 11개월 및 50개월 후 추적 초음파에서 담석을 보인 1례를 경험하였기에 보고하는 바이다