• Korean Journal of Cleft Lip And Palate
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• v.8 no.2
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• pp.95-105
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• 2005

Cleft lip and palate is a congenital deformity which needs a professional and consistent management from the birth and along with the physical growth of patients. The patients with cleft lip and palate can have general speech problems with resonance disorders, voice disorders and articulation disorders after the successful primary surgical management and the physical growth. Speech problems of Cleft lip and palate are characterized hypernasality, nasal air emission, increased nasal air flow, and aberrant speech marks which decrease intelligibility. These speech problems of cleft lip and palate can be treated with the secondary surgical procedure, the application of temporary prosthesis and the effective and well-timed speech therapy. The speech and language problems of cleft lip and palate, the general procedures and schedules of the speech assessment and therapy based on the multidisciplinary approach are introduced for the patients with cleft lip and palate, their family and the other members of the cleft palate treatment team.

• Journal of Genetic Medicine
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• v.18 no.1
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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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• v.62 no.3
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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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• v.25 no.4
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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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• v.20 no.2
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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.

• Korean Journal of Cleft Lip And Palate
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• v.4 no.1
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• pp.45-53
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• 2001

Congenital craniofacial disorders represent approximately 20% of all birth defects, One of these disorders is syngnathia, Congenital fusion of the maxilla and mandible is rare and can present in a wide range of severity from single mucosal band(synechiae) to complete bony fusion(syngnathia), Syngnathia, congenital bony fusion of the mandible and maxilla, is even less common than synechiae, with only 25 cases reported in the literature, Most of them have presented as an incomplete, unilateral fusion, We report a case of unilateral bony fusion of the maxilla, mandible, and zygomatic arch, Details of operative management and follow-up data are presented with review of literature.

• Phonetics and Speech Sciences
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• v.6 no.4
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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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• v.16 no.1
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• pp.125-130
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• 1999

Congenital myotonia is a hereditary disorder of the skeletal muscle. The most characteristic features of the disease are myotonia and variable muscular hypertrophy. Molecular biologic investigations have revealed that mutations in the gene of the human skeletal muscle chloride ion channel protein are a cause of the disease. The Becker's type congenial myotonia is clinically similar to the autosomal dominantly inherited congenital myotonia (Thomsen's disease). Both disorders are characterized electrophysiologically by increased excitability of muscle fibers. reflected in clinical myotonia. In general, Becker's type congenital myotonia is more severe than Thomsen's disease in muscular hypertrophy and weakness. The authors recently experienced a 25-year-old female patient who has no family-related disease history and who has conspicuous muscular hypertrophy and the stiffness with muscles which occurred from the age of 3 or 4. Clinically she showed the authors a percussion myotonia. On electrophysiological study, exercise and repetitive stimulation of the abductor digiti quinti muscle disclosed a decline in the compound muscle action potential. Biopsy of biceps muscle revealed enlargement of muscle fibers with marked nuclear internalization. After the oral taking the Mexiletine, the patient showed a favorable turn a little with her stiffness of muscles. So we authors are reporting one case of Becker's type congenital myotonia with review of literatures.

• Clinical and Experimental Pediatrics
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• v.53 no.6
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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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• v.57 no.6
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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.