• 제목/요약/키워드: genetic disorder

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주의력결핍 과잉행동장애 한국형 치료 권고안 개정안(I) - 서론, 임상양상 및 공존질환 - (The Revised Korean Practice Parameter for the Treatment of Attention-Deficit Hyperactivity Disorder (I) - Clinical Presentation and Comorbidity -)

  • 김은진;김윤신;서완석;이소희;박은진;배승민;신동원
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • 제28권2호
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    • pp.46-57
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    • 2017
  • Attention-deficit hyperactivity disorder (ADHD) is a common psychiatric disorder that can affect individuals across their lifespan. It is characterized by the core symptoms of inattention, impulsivity and hyperactivity. ADHD develops as a result of the complex interplay between genetic and environmental factors. Children and adults with ADHD usually suffer concomitantly from other psychiatric comorbidities, including both externalizing and internalizing disorders. It is associated with functional impairment and poor long-term outcomes. This review aims to summarize the key findings from recent research into ADHD and its prevalence, core symptoms, cause and comorbidities from childhood to adulthood.

학습장애의 조기 발견을 위한 소아과적 접근 (Pediatric approach to early detection of learning disabilities)

  • 성인경
    • Clinical and Experimental Pediatrics
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    • 제51권9호
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    • pp.911-921
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    • 2008
  • Learning disabilities (LD) are heterogeneous group of disorders with evidences of genetic or familial trait, intrinsic to the individual and presume to be due to central nervous dysfunction. Learning disabilities and attention deficit hyperactivity disorder (ADHD) are the two of the most common disorders in the population of school-age children. Typically academic achievements in children with learning disabilities are significantly lower than expected by their normal or above normal range of IQ. Although academic and cognitive deficits are hallmarks of children with LD, those children are also at risk for a broad range of behavioral and emotional problems. Almost all cases meet criteria for at least one additional diagnosis such as ADHD, developmental coordination disorder, depression, anxiety, obsessive compulsive disorder, tic disorder, among which ADHD is particularly predominant. Because of the response to the therapeutic intervention program is promising and positive when applied early, it is critical to recognize patients as early as possible. Pediatricians often are the first to hear from parents worried about a childs academic progress. It is not the responsibility of pediatrician to make a diagnosis, referring children for a diagnostic evaluation of LD is a reasonable first step. Pediatricians can make early referral of suspicious children by asking some serial short questions about basic and processing skills. With a basic knowledge about the clinical characteristics, diagnostic and therapeutic procedures of LD, pediatricians also can provide primary counseling and education for parents at their outpatient clinical settings.

미세먼지노출이 신경정신장애에 미치는 영향 (Adverse Effect of Exposure to Ambient Particular Matter on Neuropsychiatric Disorder)

  • 임명호;김종헌;권호장;정해관
    • 대한불안의학회지
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    • 제16권2호
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    • pp.57-75
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    • 2020
  • Particular matter is steadily increasing due to environmental factors at domestic and abroad such as industry and economy. Recently, the exposure particular matters has been reported to increase the risk not only for morbidity and mortality, but also for diseases of the respiratory system, cardiovascular system and central nervous system/neuropsychiatric disorder. Although the causes of neuropsychiatric diseases are genetic and environmental factors, it is necessary to pay more attention to environmental factors in terms of prevention. We mainly describe environmental factors that affect neuropsychiatric disorders, mainly on particular matter, which is one of harmful environmental substances. In the current study, we reviewed evidence for the presence of particular matter or particular matter related harmful air pollutants-O3, SO2, NO2/NOx, traffic related air pollution, that may represent risk factors for the development of neuropsychiatric disorder.

한국형 양극성 장애 약물치료 알고리듬 2018 : 안정성과 내약성 (Korean Medication Algorithm for Bipolar Disorder 2018 : Safety and Tolerability)

  • 손인기;박원명;윤보현;전덕인;서정석;김원;이정구;우영섭;정종현;김문두;정영은;심세훈;송후림;민경준
    • 우울조울병
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    • 제16권3호
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    • pp.134-139
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    • 2018
  • Objectives : Treatment for bipolar disorder is often complicated by various clinical situations. We undertook a survey of expert opinions to facilitate clinical decisions in special situations such as weight gain, metabolic syndrome, hyperprolactinemia, genetic counseling, and treatment adherence. Methods : A written survey that asked treatment strategies related to safety and tolerability, was prepared focused on weight gain, antipsychotic related hyperprolactinemia, lamotrigine related skin rash, treatment non-adherence and genetic counseling. Sixty-one experts of the review committee completed the survey. Results : In the case of weight gain related to medications, experts preferred exercise and education for diet-control. First chosen medications were lamotrigine, aripiprazole and ziprasidone. Recommendations based on expert survey results for treatment of bipolar patients in other special situations are outlined. Conclusion : With limitation of expert opinions, authors hope that results of this study provide valuable information to make clinical decisions about treatment of bipolar disorder in complicated situations.

Very Early-Onset Inflammatory Bowel Disease: A Challenging Field for Pediatric Gastroenterologists

  • Arai, Katsuhiro
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제23권5호
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    • pp.411-422
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    • 2020
  • With the increasing number of children with inflammatory bowel disease (IBD), very early-onset IBD (VEO-IBD), defined as IBD that is diagnosed or that develops before 6 years of age, has become a field of innovation among pediatric gastroenterologists. Advances in genetic testing have enabled the diagnosis of IBD caused by gene mutations, also known as monogenic or Mendelian disorder-associated IBD (MD-IBD), with approximately 60 causative genes reported to date. The diagnosis of VEO-IBD requires endoscopic and histological evaluations. However, satisfactory small bowel imaging studies may not be feasible in this small population. Both genetic and immunological approaches are necessary for the diagnosis of MD-IBD, which can differ among countries according to the available resources. As a result of the use of targeted gene panels covered by the national health insurance and the nationwide research project investigating inborn errors of immunity, an efficient approach for the diagnosis of MD-IBD has been developed in Japan. Proper management of VEO-IBD by pediatric gastroenterologists constitutes a challenge. Some MD-IBDs can be curable by allogenic hematopoietic stem cell transplantation. With an understanding of the affected gene functions, targeted therapies are being developed. Social and psychological support systems for both children and their families should also be provided to improve their quality of life. Multidisciplinary team care would contribute to early diagnosis, proper therapeutic interventions, and improved quality of life in patients and their families.

한국인 집단에서 심방 나트륨 이뇨 펩티드 유전자에 존재하는 유전적 변이와 본태성 고혈압과의 관련성에 관한 연구 (Association Study between the Genetic Variants of the Human Atrial Natriuretic Peptide Gene and Essential Hypertension in Korean Population)

  • 배준설;강병용;이강오;이승택
    • Toxicological Research
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    • 제22권2호
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    • pp.69-74
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    • 2006
  • Hypertension leads to major health problems in many industrialized countries, and multiple etiologic factors are involved in the pathogenesis of this disorder. The genetic components of the natriuretic peptide system might be involved in the pathogenesis of hypertension. In this regard, the atrial natriuretic peptide (ANP) gene has been proposed as a candidate hypertension gene. Therefore, we investigated the G1837A and C-664G polymorphisms of the ANP gene in 143 Korean normotensives and 118 hypertensives. There were no significant differences in the genotype and allele frequencies between the two groups. Although the frequencies in each of these polymorph isms were not significantly different between normotensives and hypertensives, our results provide additional ethnic information for linkage analysis and associated studies of this disorder with cardiovascular disease.

Edentulous child with Allgrove syndrome: a rare case report

  • Vahedi, Mohammad;Fathi, Shima;Allahbakhshi, Hanif
    • Clinical and Experimental Pediatrics
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    • 제59권11호
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    • pp.456-459
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    • 2016
  • Triple-A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder. The 3 features of this syndrome are achalasia, adrenal insufficiency, and alacrima. Achalasia could be the first manifestation of the triple-A syndrome; however, its etiology is unclear. Alacrima is generally asymptomatic but can be detected by obtaining patient history. Although adrenal insufficiency could have manifestations such as asthenia, it might be wrongly diagnosed as muscle fatigue. Vitamin D and calcium supplements are usually prescribed for the prevention of osteoporosis. Neurologic manifestations could be present in adults. In some individuals with this disorder, genetic examination indicates mutations in both alleles of the AAAS gene, which encodes a special 546-amino-acid protein designated ALADIN, and in chromosome 12q13. The genetic cause of the triple A syndrome in some patients who do not have an identified mutation is unknown. While very few such cases have been reported till date, one such case was presented to us as an edentulous child.

DNA testing for fragile X syndrome in school for severely emotionally handicapped children in Korea

  • Hong, Sung-Do David;Lee, So-Young;Oh, Myung-Ryurl;Jin, Dong-Kyu
    • Journal of Genetic Medicine
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    • 제2권2호
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    • pp.83-86
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    • 1998
  • Though Fragile X syndrome is one of the most common inherited causes of mental retardation, it is not much detected yet in Korean population. One of the reason may be that the syndrome is not well known to the special education teachers as well as to the clinicians in this country. Thus, molecular test was undertaken to screen out fragile X syndrome in 122 children of two Korean schools for emotionally severely handicapped children. The subjects were all boys, previously known as having pervasive developmental disorder with or without mental retardation. Southern blot analysis of peripheral blood showed the abnormally enlarged (CGG)n repeat sequence associated with fragile X syndrome in two children. This finding suggests that the DNA testing for fragile X syndrome is warranted for Korean high risk population and that more concern about this syndrome is needed for the professionals who work for mentally handicapped children. The issues involved in genetic counseling for fragile X syndrome are discussed.

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An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation

  • Shin, Soon-Jung;Kim, Ja Hye;Kim, Yoo-Mi;Kim, Gu-Hwan;Lee, Beom Hee;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • 제10권1호
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    • pp.43-46
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    • 2013
  • Adrenoleukodystrophy (ALD) is an X-linked disorder which has diverse constellation of clinical pictures, ranging from the severe childhood cerebral form to adrenocortical insufficiency without neurological manifestations. This disorder is caused by the mutations in the ABCD1 gene encoding the adrenoleukodystrophy protein (ALDP), a transporter in the peroxisome membrane. ALD in most cases is inherited from one parent. Here, we report an incidentally identified sporadic case with ALD after traffic accident. He had adrenocortical insufficiency as well as abnormal findings in brain image. Genetic testing of ABCD1 gene revealed a previously reported mutation. With the description of clinical features of ALD in this patient, we discussed the difficulty in determining an appropriate therapeutic option for ALD patients with minimal neurological manifestation.