• Title/Summary/Keyword: Multifactorial inheritance

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A Report of Fallot's Tetralogy in Siblings (형제에서 발생한 활로4증)

  • Lee, Sang-Ho;Lee, Yung-Kyoon
    • Journal of Chest Surgery
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    • v.13 no.2
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    • pp.105-109
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    • 1980
  • Tetralogy of Fallot has shown its familial aggregation in several familial studies. This reported case is another example which occurred in a family in two brothers. They revealed no cytogenetic abnormalities, but the anatomical cardiac malformation of them showed much similarity, total conal defect in ventricular septum and .one had patent foramen ovale, the other atrial septal defect. The familial recurrence tendency of Tetralogy of Fallot as well as other congenital heart diseases could be explained on multifactorial inheritance as shown in many reports. In spite that we couldn`t find out any environmental trigger or teratogens, our case may be accepted on the base of multifactorial mechanism.

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Congenital Heart Disease in Siblings (형제에서 발생한 선천성 심장질환)

  • Park, Pyowon;Hong, Jang-Su;Suh, Kyung-Pill
    • Journal of Chest Surgery
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    • v.14 no.1
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    • pp.87-90
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    • 1981
  • Genetic and environmental factors are the two areas which have received attention in the etiology of congenital cardiac malformation. Genetic factor in many types of congenital heart disease have not been clearly delineated. Congenital heart diseases are a heterogenous category of developmental anomalies, representing in most cases the multifactorial inheritance of threshold characters, the expression of which is the product of a genetic - environmental interaction. Recently we experienced three pairs of congenital heart disease in siblings including ventricular septal defects in twin.

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Genetic approaches toward understanding the individual variation in cardiac structure, function and responses to exercise training

  • Kim, Minsun;Kim, Seung Kyum
    • The Korean Journal of Physiology and Pharmacology
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    • v.25 no.1
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    • pp.1-14
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    • 2021
  • Cardiovascular disease (CVD) accounts for approximately 30% of all deaths worldwide and its prevalence is constantly increasing despite advancements in medical treatments. Cardiac remodeling and dysfunction are independent risk factors for CVD. Recent studies have demonstrated that cardiac structure and function are genetically influenced, suggesting that understanding the genetic basis for cardiac structure and function could provide new insights into developing novel therapeutic targets for CVD. Regular exercise has long been considered a robust nontherapeutic method of treating or preventing CVD. However, recent studies also indicate that there is inter-individual variation in response to exercise. Nevertheless, the genetic basis for cardiac structure and function as well as their responses to exercise training have yet to be fully elucidated. Therefore, this review summarizes accumulated evidence supporting the genetic contribution to these traits, including findings from population-based studies and unbiased large genomic-scale studies in humans.

Febrile seizures

  • Chung, Sajun
    • Clinical and Experimental Pediatrics
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    • v.57 no.9
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    • pp.384-395
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    • 2014
  • Febrile seizure (FS) is the most common seizure disorder of childhood, and occurs in an age-related manner. FS are classified into simple and complex. FS has a multifactorial inheritance, suggesting that both genetic and environmental factors are causative. Various animal models have elucidated the pathophysiological mechanisms of FS. Risk factors for a first FS are a family history of the disorder and a developmental delay. Risk factors for recurrent FS are a family history, age below 18 months at seizure onset, maximum temperature, and duration of fever. Risk factors for subsequent development of epilepsy are neurodevelopmental abnormality and complex FS. Clinicians evaluating children after a simple FS should concentrate on identifying the cause of the child's fever. Meningitis should be considered in the differential diagnosis for any febrile child. A simple FS does not usually require further evaluation such as ordering electroencephalography, neuroimaging, or other studies. Treatment is acute rescue therapy for prolonged FS. Antipyretics are not proven to reduce the recurrence risk for FS. Some evidence shows that both intermittent therapy with oral/rectal diazepam and continuous prophylaxis with oral phenobarbital or valproate are effective in reducing the risk of recurrence, but there is no evidence that these medications reduce the risk of subsequent epilepsy. Vaccine-induced FS is a rare event that does not lead to deleterious outcomes, but could affect patient and physician attitudes toward the safety of vaccination.

DIAGNOSIS AND TREATMENT OF IMPACTED MAXILLARY CANINE (매복 상악 견치의 진단과 치료)

  • Lee, Sang-Ho
    • Journal of the korean academy of Pediatric Dentistry
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    • v.33 no.3
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    • pp.534-547
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    • 2006
  • Ectopic eruption and impaction of canines is a frequently encountered clinical problems. The incidence of impaction ranges between 1-3%. The cause of canine impaction can be the result of localized factors or can be a polygenic multifactorial inheritance and associated with other dental anomalies. The general dentist and pediatric dentist should know how to properly diagnose and manage potential disturbances in the eruption of maxillary canine. Diagnosis of impacted canine at age 8-10 years can significantly reduce serious ramifications, including surgical exposure and orthodontic traction as well as root resorption of the lateral incisors. Extraction of primary canine would be one of the method to prevent the impaction. The surgical procedure should be designed to minimize the destruction of periodontal tissue of impacted canine. Closed eruption technique is thought to be optimal method of surgical exposure compared with other methods. An overview of the incidence, sequela as well as the surgical periodontal, and orthodontic consideration in the management of impacted canine was presented.

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