• Journal of Chest Surgery
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• 제13권2호
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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.

• Journal of Chest Surgery
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• 제14권1호
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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.

• The Korean Journal of Physiology and Pharmacology
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• 제25권1호
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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.

• Clinical and Experimental Pediatrics
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• 제57권9호
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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.

• 대한소아치과학회지
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• 제33권3호
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• pp.534-547
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• 2006

상악 견치의 매복은 임상에서 종종 관찰되며 여러 임상적인 문제점을 유발한다. 상악 매복 견치의 유병율은 1-3%로 협측 매복은 주로 국소적인 원인에 의해 그리고 구개측 매복은 국소적인 원인이냐 유전적인 원인이냐에 대한 견해차를 보이고 있다. 견치가 매복된 경우 인접치의 치근을 흡수시키거나 낭종을 형성하는 등 여러 가지 문제점을 유발한다. 따라서 임상의들은 상악 견치의 매복의 가능성을 조기에 진단하고 일련의 맹출 과정을 감시함과 동시에 적절한 시기에 맹출 공간의 확보나 유견치의 발거 등 국소적인 맹출 방해 요인을 제거하여 매복을 예방하거나 차단해 주어야 한다. 혼합치열기 말기나 영구치열기 초에 견치의 매복이 확실해진 경우 외과적 노출과 교정력을 이용해 견인해 주는 후속적인 처치가 필요하다. 외과적 노출 술식은 후에 견치 주위의 치주조직의 건강에 중요한 영향을 미치는 인자이므로 부착치은의 상실을 최소로 하는 외과적 노출방법에 대한 인식이 매우 중요하다. 즉 외과적으로 판막을 형성하여 매복된 치아를 견인하고자 할 경우 견인 후 부착치은을 최대한 확보해 주는 방향으로 해 주어야 한다. 매복 견치가 치조골 중간이나 전정 깊은 곳에 매복되어 있는 경우 폐쇄 맹출법은 다른 방법에 비해 부착치은이나 골 지지도 면에서 더 우수하지만 부착물이 탈락된 경우 2차 수술의 필요하며 부적절한 견인시 치주적인 문제점이 유발될 수 있다.