• Journal of Genetic Medicine
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• v.4 no.1
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• pp.15-21
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• 2007

Hereditary syndromes cause approximately 5 to 10% of overall cancer cases. Cancer related with genetic syndromes are found elsewhere, including stomach, breast, colorectum, ovary, brain and so on. Because hereditary cancers are due to germline mutations, these patients have unique clinical features distinct from sporadic cancer. Generally these features include (i) early age-of onset of cancer, (ii) frequent association with synchronous or metachronous tumors, (iii) frequent bilateral involvement in paired organs (iv) frequent association with other site tumors or characteristic clinical manifestation specific to each genetic syndrome. Due to these differences, the management strategy for patients with hereditary cancer is quite different from that for sporadic cancer. Additionally, there are important screening and surveillance implications for family members. Genetic counselling is prerequisite to these families for risk assessment by pedigree analysis, and guidance to clinical or genetic testing. The genes responsible for these syndromes has recently identified, as a result, genetic testing has become important determining factor in clinical decisions.

• Journal of Mechanical Science and Technology
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• v.15 no.9
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• pp.1281-1291
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• 2001

The hereditary integral form of a quasi-linear viscoelastic law has been employed. Four new concepts have been employed: 1. a reduced relaxation function with a non-linear exponential function of time, 2. an inverse method to determine the scale factor of the elastic response, 3. an instant elastic recovery strain during unloading, and 4. the results of a constitutive model for cyclic tests may be a function of the Heavyside class. These concepts have been supported by agreement between measured and predicted responses of soft connective tissue to three types of multiple cyclic tests which include rest periods of no extension and alternations between different strain levels. Such agreement has not been attained in the previous studies. Chun and Hubbard (2001) is our companion experimental analysis paper.

• Journal of Audiology & Otology
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• v.25 no.4
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• pp.230-234
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• 2021

Otosclerosis, a hereditary disorder characterized by disordered resorption and deposition of bone, results in progressive hearing loss. Osteogenesis imperfecta (OI) is a genetic disorder characterized by recurrent fractures, blue sclera, and varying degrees of hearing impairment; and is a known risk factor for otosclerosis. After adolescence, the risk of fracture decreases, reducing the need for follow-up in OI. However, otosclerosis is a progressive disorder. In this report, we discuss two cases of familial otosclerosis with different clinical features. We hypothesize that the difference in hearing level correlates with the difference in computed tomography findings. The mother, whose case was considered severe, was prescribed hearing aids, while the daughter, who had normal hearing level, was regularly followed up.

• Korean Journal of Audiology
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• v.25 no.4
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• pp.230-234
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• 2021

Otosclerosis, a hereditary disorder characterized by disordered resorption and deposition of bone, results in progressive hearing loss. Osteogenesis imperfecta (OI) is a genetic disorder characterized by recurrent fractures, blue sclera, and varying degrees of hearing impairment; and is a known risk factor for otosclerosis. After adolescence, the risk of fracture decreases, reducing the need for follow-up in OI. However, otosclerosis is a progressive disorder. In this report, we discuss two cases of familial otosclerosis with different clinical features. We hypothesize that the difference in hearing level correlates with the difference in computed tomography findings. The mother, whose case was considered severe, was prescribed hearing aids, while the daughter, who had normal hearing level, was regularly followed up.

• The korean journal of orthodontics
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• v.34 no.4 s.105
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• pp.279-287
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• 2004

In growing patients with Class III malocclusion, the various patterns of maxillofacial growth are a key element that affects the success or failure of treatment. Therefore it is important to correctly predict maxillofacial growth before initiating treatment. The purpose of this study was to find out the correlation between the maxillofacial morphology of parents and their Class III children by analyzing lateral cephalograms and hereditary factors. Among Class III preadolescent children, 50 families were obtained. To find out the specific hereditary factors involved, fingerprints were obtained and genetic correlation with the maxillofacial morphology was analyzed. The following conclusions were made. 1. A significant correlation (P<0.05-0.00l) was found in many of the cephalometric measurements between the offspring and their parents. The correlation in the skeleton measurements was higher than in the denture measurements. The father-offspring correlation was higher than the mother-offspring correlation 2. A significant correlation (P<0.05-0.00l) was found in fingerprint units between the offspring and their parents. The mother-offspring correlation was higher than the father-offspring correlation. 3. Between the maxillofacial morphology and fingerprint units, there was significant genetic correlation (P<0.05-0.01). Based on the analysis of genetic correlation, higher correlation was found in the parent-son pairing than the parent-daughter pairing.

• The Journal of Internal Korean Medicine
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• v.20 no.1
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• pp.33-47
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• 1999

Through a literal study upon the cause of epilepsy between east and west medicine, next conclusion have been abtained. 1. The cause epilepsy in the east medicine, congenital embryo disease is due to insufficiency of heart(心虛) or deficiency of heart energy(心氣虛), secondary cause is wind -evil(風), frightness(驚), phlegm(痰), fire(火) 2. The cause epilepsy in the west medicine is divided congenital disease and secondary cause, one is excessive discharge of electricity of the brain have on a central nerve, a digestive organ, a respiratory organ, hamatogenous functions, the other is hereditary it and pathological it. 3. The epilepsy is concerned about the abnormality in five viscera, liver, spleen, heart. 4. In comparison east and west medicine of epilepsy is native factor, or innate primary cause is added to outer cause of wind-evil(風), cold-evil(寒), summer-heat(署), wetness(濕), and inner cause of frightness-terror(驚-恐), seven modes of emotions(七情) and the epilepsy is occurred phlegm(痰), fire(火). It similar that the epilepsy is occurred to structural and functional obstacle in western hereditary and primary cause.

• BMB Reports
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• v.42 no.10
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• pp.631-635
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• 2009

The heat shock transcription factor (HSF) family consists of at least three members in mammals and regulates expression of heat shock proteins in response to heat shock and proteotoxic stresses. Especially, HSF1 is indispensable for this response. Members of this family are also involved in development of some tissues such as the brain and reproductive organs. However, we did not know the molecular mechanisms that regulate developmental processes. Involvement of HSFs in the sensory development was implicated by the finding that human hereditary cataract is associated with mutations of the HSF4 gene. Analysis of gene-disrupted mice showed that HSF4 and HSF1 are required for the lens and the olfactory epithelium, respectively. Furthermore, a common molecular mechanism that regulates developmental processes was revealed by analyzing roles of HSFs in the two developmentally-related organs.

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.23-26
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• 2019

Thrombophilia refers to inherited or acquired hemostatic disorders that result in a predisposition to blood clot formation. When combined with the hypercoagulable state that is characteristic of pregnancy, there is an increased risk of severe and recurrent pregnancy complications. Activated protein C resistance caused by factor V Leiden (FVL) mutation is known to be the most common cause of inherited thrombophilia in Caucasian population. FVL mutation has been related to pregnancy complications associated with hypercoagulation, e.g. miscarriage, intrauterine fetal demise, placental abruption, and intrauterine growth retardation. Although the FVL mutation is easily detected using molecular DNA techniques, patients who are heterozygous for this disorder often remain asymptomatic until they develop a concurrent prothrombotic condition. Because there are potentially serious effects of FVL mutation for pregnancy, and because effective treatment strategies exist, early detection and treatment of this condition might be considered.

• Environmental Analysis Health and Toxicology
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• v.31
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• pp.1.1-1.13
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• 2016

Objectives To investigate the accuracy and scientific validity of the current very low risk factor for hereditary diseases in humans following exposures to ionizing radiation adopted by the United Nations Scientific Committee on the Effects of Atomic Radiation and the International Commission on Radiological Protection. The value is based on experiments on mice due to reportedly absent effects in the Japanese atomic bomb (A-bomb) survivors. Methods To review the published evidence for heritable effects after ionising radiation exposures particularly, but not restricted to, populations exposed to contamination from the Chernobyl accident and from atmospheric nuclear test fallout. To make a compilation of findings about early deaths, congenital malformations, Down's syndrome, cancer and other genetic effects observed in humans after the exposure of the parents. To also examine more closely the evidence from the Japanese A-bomb epidemiology and discuss its scientific validity. Results Nearly all types of hereditary defects were found at doses as low as one to 10 mSv. We discuss the clash between the current risk model and these observations on the basis of biological mechanism and assumptions about linear relationships between dose and effect in neonatal and foetal epidemiology. The evidence supports a dose response relationship which is non-linear and is either biphasic or supralinear (hogs-back) and largely either saturates or falls above 10 mSv. Conclusions We conclude that the current risk model for heritable effects of radiation is unsafe. The dose response relationship is non-linear with the greatest effects at the lowest doses. Using Chernobyl data we derive an excess relative risk for all malformations of 1.0 per 10 mSv cumulative dose. The safety of the Japanese A-bomb epidemiology is argued to be both scientifically and philosophically questionable owing to errors in the choice of control groups, omission of internal exposure effects and assumptions about linear dose response.

• Clinical and Experimental Pediatrics
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• v.50 no.10
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• pp.931-937
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• 2007

The hemolytic uremic syndrome (HUS) is a rare disease of microangiopathic hemolytic anemia, low platelet count and renal impairment. HUS usually occurs in young children after hemorrhagic colitis by shigatoxin-producing enterohemorrhagic E. coli (D+HUS). HUS is the most common cause of acute renal failure in infants and young children, and is a substantial cause of acute mortality and morbidity; however, renal function recovers in most of them. About 10% of children with HUS do not reveal preceding diarrheal illness, and is referred to as D- HUS or atypical HUS. Atypical HUS comprises a heterogeneous group of thrombomicroangiopathy (TMA) triggered by non-enteric infection, virus, drug, malignancies, transplantation, and other underlying medical condition. Emerging data indicate dysregulation of alternative complement pathway in atypical HUS, and genetic analyses have identified mutations of several regulatory genes; i.e. the fluid phase complement regulator Factor H (CFH), the integral membrane regulator membrane cofactor protein (MCP; CD46) and the serine protease Factor I (IF). The uncontrolled activation of the complement alternative pathway results in the excessive consumption of C3. Plasma exchange or plasma infusion is recommended for treatment of, and has dropped the mortality rate. However, overall prognosis is poor, and many patients succumb to end-stage renal disease. Clinical presentations, response to plasma therapy, and outcome after renal transplantation are influenced by the genotype of the complement regulators. Thrombotic thrombocytopenic purpura (TTP), another type of TMA, occurs mainly in adults as an acquired disease accompanied by fever, neurologic deficits and renal abnormalities. However, less frequent cases of congenital or hereditary TTP associated with ADAMTS-13 (a disintegrin and metalloprotease, with thrombospondin 1-like domains 13) gene mutations have been reported, also. Recent advances in molecular genetics better allow various HUS to be distinguished on the basis of their pathogenesis. The genetic analysis of HUS is important in defining the underlying etiology, predicting the genotype-related outcome and optimizing the management of the patients.