• The Journal of Korean Academic Society of Nursing Education
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• v.12 no.2
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• pp.272-279
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• 2006

Background: After Genome project, cancer genetic information is being rapidly changing. Everyday nurses are incorporating current cancer genetic knowledge and genetic testing into their practice. So their cancer genetic knowledge is important for ensuring quality of cancer patient care and education. Purpose: This study is performed for describing the Korean nurses' current knowledge level about the hereditary breast cancer. Method: This national wide survey used 15-item questionnaire which is modified from the Breast Cancer Genetic Counseling Knowledge Questionnaire originally developed by Erblich et al.(2005). Three hundred and nine nurses were recruited for this survey from April 1, 2006 to September 30, 2006. Result: Nurses' knowledge level about the hereditary breast cancer was not high. Clinical nurses with master degree, working large hospital located in Seoul had higher knowledge about hereditary breast cancer. Education related to cancer genetics was significantly impact on the level of nurses' knowledge. Conclusion: Cancer genetic educational program for Korean nurses is strongly needed for delivering cancer care services sensitive to ever-changing cancer genetic information.

• Journal of Yeungnam Medical Science
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• v.37 no.4
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• pp.341-344
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• 2020

Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare neurological genetic disease caused by deletion of the peripheral myelin protein 22 gene and presents in childhood or young adulthood. We report four cases of HNPP with typical and rare presentations, reflecting the broad clinical spectrum of this disease. Two patients presented with mononeuropathies that are frequently observed in HNPP; the remaining two presented with bilateral neuropathy or mononeuropathy anatomically present in the deep layer. This reflects the broad clinical presentation of HNPP, and clinicians should differentiate these conditions in young patients with monoparesis or bilateral paresis. Although HNPP is currently untreatable, early diagnosis in the emergency department can lead to early detection, eventually resulting in less provocation and recurrence which may cause early motor nerve degeneration.

• Computational Structural Engineering
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• v.6 no.2
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• pp.103-114
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• 1993

An advanced time-domain finite element formulation is presented for the displacement and stress analysis of isotropic, linear viscoelastic problems of a hereditary-type constitutive law. The semidiscrete finite element method with linear time-stepping scheme and an elastic-viscoelastic correspondence principle are used in the theoretical development. An efficient treatment of hereditary integral is introduced to improve the numerical accuracy, to reduce the computation time, and to avoid the use of large memory storage. Two-dimensional numerical examples of plane strain and plane stress are solved under the assumption on the material property of being elastic in dilatation and like three-element Voigt model in distorsion, and compared with the analytical solutions and the past numerical results to show the versatility and efficiency of the proposed method.

• Annals of Clinical Neurophysiology
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• v.7 no.2
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• pp.138-140
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• 2005

Strumpell, in 1880, was the first to describe familial case of spastic paraplegia characterized by progressive weakness and spasticity of the lower limbs with little or no involvement of the upper extremities. This syndrome is heterogeneous in inheritance, age of onset, severity and associated signs. We present one family with autosomal dominant hereditary spastic paraplegia (HSP) due to SPG4 (spastin) gene mutation which is confirmed by genomic DNA isolated from peripheral blood.

• Journal of Korean Neurosurgical Society
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• v.45 no.5
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• pp.309-311
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• 2009

Cervical cord compression due to osteochondroma in hereditary multiple exostosis (HME) is a rare condition, especially in young children. In this report, we discuss a rare case of cervical osteochondroma presenting as Brown-Sequard syndrome (BSS) in a 7-year-old boy with HME. The child was admitted because of hemiparesis involving the right limbs and hypoesthesia on the left side following mild trauma. MR image revealed cord compression by osteochondroma of the C7 lamina. We removed the osteocondroma and the neurological deficit was improved.

• Clinical and Experimental Pediatrics
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• v.50 no.10
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• pp.1018-1023
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• 2007

Hereditary hemorrhagic telagiectasia (HHT), which is characterized by the classic triad of mucocutaneous telangiectases, arteriovenous malformations (AVMs) and inheritance, is an autosomal dominant disorder. The characteristic manifestations of HHT are all due to abnormalities of the vascular structure. This report deals with the case of a 14-year-old girl with typical features of HHT that include recurrent epistaxis, mucocutanous telangiectases, pulmonary and cerebral AVMs and a familial occurrence.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1978.06a
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• pp.7.2-7
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• 1978

There are over 60 types of hereditary hearing loss in man and most of these are distinguished from one another by outstanding associated defects caused the same gene producing hearing loss. However, there are at least 12 types of hereditary hearing loss with no known associated defects. The authors experienced two similar families with hereditary hearing loss. The affected offsprings had inevitably an affected parent in type of transmissin (autosomal dominant) and the hearing loss developed in childhood and progressed. Audiologic findings showed bilateral symmetrical moderate to severe sensori-neural hearing loss with flattened configuration on the audiogram. Vestibular function tests showed no abnormal findings and the associated anomalies could'nt be observed in history or clinical examinations.

• Annals of Clinical Neurophysiology
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• v.22 no.2
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• pp.121-124
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• 2020

The most common form of autosomal recessive hereditary spastic paraplegia (HSP) is caused by mutations in SPG11/KIAA1840 gene, which encodes for spatacsin. The clinical presentation of SPG11 is characterized by cognitive impairment, peripheral neuropathy and a thin corpus callosum in brain magnetic resonance imaging. We identified a novel homozygous nonsense mutation (c.6082C>T [p.Q2028]) in exon 32 of SPG11 in Korean siblings. Our findings suggest that this novel homozygous mutation in SPG11 is associated with HSP and with dysgenesis of the corpus callosum.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.4
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• pp.392-399
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• 2019

Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and self-mutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.

• Korean Journal of Mathematics
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• v.24 no.3
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• pp.369-374
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• 2016

In this paper, we study the hereditary convex radius of convex harmonic mapping $f(z)=f_1(z)+{\bar{f_x(z)}}$ under the integral operator $I_f(z)={\int_{o}^{z}}{\frac{f_1(u)}{u}}du+{\bar{{\int_{o}^{z}}{\frac{f_x(u)}{u}}}}$ and obtain the sharp constant ${\frac{{\sqrt[4]{6}}-{\sqrt[]{15}}}{9}}$, which generalized the result corresponding to the class of analytic functions given by Nash.