• Clinical and Experimental Pediatrics
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• 제45권5호
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• pp.711-715
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• 2002

저자들은 1년 3개월된 남아에서 현재까지 보고된 상기 증상들 이외에 우측 신장의 수신증과 무한증이 동반된 1레를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제52권10호
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• pp.1171-1174
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• 2009

에드워드 증후군이라 불리는 삼염색체 18은 실제 생존율이 매우 낮으며 생존한 태아도 복합적 기형과 심한 발육지연으로 생존 태아의 90%는 생후 1년 내에 사망하는 것으로 알려져 있다. 18번 염색체의 전체중복이 주된 원인이며, 부분중복 역시 중복된 부위에 따라 어느 정도 차이는 있으나 에드워드 증후군의 특징적인 임상 양상을 나타낸다. 18번 염색체의 q12.1-q21.2, q22.3-qter부위가 에드워드 증후군의 표현형을 결정하는 부위일 것이라 생각되며 이중 일부만 중복되었을 경우 가벼운 임상 양상 및 좋은 예후를 예측할 수 있다. 본 증례에서 환아는 에드워드 증후군의 표현형을 결정하는 18번 염색체의 q12부위가 포함되어 있는 q11.2-12부위에 부분중복이 관찰되었다. 환아는 전형적인 에드워드 증후군 환자보다 훨씬 가벼운 임상 증상과 높은 생존율이 기대되므로 이와 같이 보고하는 바이다.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.15-18
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• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• 대한장애인치과학회지
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• 제9권1호
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• pp.42-45
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• 2013

저자는 de Grouchy 증후군을 가진 4세 여자 환아에 대한 임상적 및 방사선학적 관찰을 통해 다음과 같은 지견을 얻었다. 1. 환아는 de Grouchy 증후군의 증상인 심장 및 발가락의 기형, 근긴장의 저하, 뇌량의 부분적인 무형성, 시각 장애와 청각 장애, 지적 능력의 저하, 성장 발달의 지연 등을 나타낸다. 2. 환아의 구강 및 두개악안면 소견으로 상악골 열성장과 전치부 반대교합을 보이며, 불량한 구강 위생으로 인한 다발성 치아우식증이 관찰된다. 3. 환아의 구강 위생 관리 및 치료 부위의 유지를 위하여 주기적인 치과 검진이 필요하며, 상악골 열성장과 전치부 반대교합을 개선하기 위해 추후 교정 치료가 필요할 수 있다.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.110-116
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• 2021

Microdeletions of chromosome 22q11.2 are one of the most common microdeletions occurring in humans, and is known to be associated with a wide range of highly variable features. These deletions occur within a cluster of low copy repeats (LCRs) in 22q11.2, referred to as LCR22 A-H. DiGeorge (DGS)/velocardiofacial syndrome is the most prevalent form of a 22q11.2 deletions, caused by mainly proximal deletions between LCR22 A and D. As deletions of distal portion to the DGS deleted regions has been extensively studied, the recurrent distal 22q11.2 microdeletions distinct from DGS has been suggested as several clinical entities according to the various in size and position of the deletions on LCRs. We report a case of long-term follow-up of a female diagnosed with a 22q11.2 distal deletion syndrome, identified a deletion of 1.9 Mb at 22q11.21q11.23 (chr22: 21,798,906-23,653,963) using single nucleotide polymorphism array. This region was categorized as distal deletion type of 22q11.2, involving LCR22 D-F. She was born as a preterm, low birth weight to healthy non-consanguineous Korean parents. She showed developmental delay, growth retardation, dysmorphic facial features, and mild skeletal deformities. The patient underwent a growth hormone administration due to growth impairment without catch-up growth. While a height gain was noted, she had become overweight and was subsequently diagnosed with pre-diabetes. Our case could help broaden the genetic and clinical spectrum of 22q11.2 distal deletions.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.120-123
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• 2013

This report describes three cases of 22q11.2 deletion syndrome (22q11.2DS) diagnosed by array comparative genomic hybridization with final adult height and bone phenotype. The cases involved a 57-year-old woman with hypocalcemic seizure, an 18-year-old man with short stature, and a 24-year-old woman incidentally diagnosed as 22q11.2DS. The first two patients revealed short stature and low bone mineral density, and their deletion sites included the $TBX_1$. The third patient had normal stature and normal bone mineral density, and the deletion site did not include the $TBX_1$. The deletion of specific genes including the $TBX_1$ could be an important factor of skeletal development including height and bone mineral density of 22q11.2DS.

• 대한지역사회영양학회지
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• 제18권1호
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• pp.77-87
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• 2013

This study was conducted to investigate the nutrient intakes of subjects by quartile of percent energy intake from cooked rice, consumption of cooked rice mixed with multi-grains and to evaluate rice consumption in relation to the risk of metabolic syndrome. The subjects were 5,830 males and females aged between 20~64 years based on 2007-2008 KNHNES data. Levels of percent energy intake from cooked rice were classified into 4 groups (Q1, Q2, Q3, Q4 groups: 25% of each) using data of 24-hour recall method from KNHNES. Using medical examination and questionnaire, subjects were classified according to diagnostic criteria of metabolic syndrome. The subjects with higher age, being married, lower education, lower economic level were more likely to take higher percent energy intake from cooked rice. Quartile Q3 of percent energy intake from cooked rice tended to show higher Index of Nutritional Quality (INQ) for fiber, calcium, iron, potassium and vitamin A. INQ of protein, dietary fiber, calcium, thiamin, phosphorus, potassium, riboflavin, niacin and vitamin C by consumption of cooked rice mixed with multi-grains was higher than that by consumption of cooked white rice when adjusted for age. No association with a risk for metabolic syndrome was found for quartile of percent energy intake from cooked rice or cooked rice mixed with multi-grains compared to cooked white rice after adjusting for energy, gender, age, BMI, alcohol, smoking, income and physical activity. In conclusion, consumption of over 54% energy intake from cooked rice or only cooked white rice showed relatively low INQs, but was not associated with a higher risk for metabolic syndrome.

• Environmental Analysis Health and Toxicology
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• 제31권
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• pp.18.1-18.8
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• 2016

Objectives This study aimed to evaluate the risk factors associated with depression and suicidal ideation in a rural population. Methods A survey was conducted with 543 farmers from Chungcheongnam-do Province using the Center for Epidemiologic Studies Depression Scale (CES-D) for depression, Lubben Social Network Scale (LSNS) for social support, Swedish Q16 for neurotoxicity symptoms and a survey tool for farmer's syndrome. Results After adjusting for socioeconomic factors using logistic regression analysis, poor self-rated health, low social support and neurotoxicity were positively associated with the risk of depression (odds ratio [OR], 15.96; 95% confidence interval [CI], 3.11 to 81.97; OR, 3.14; 95% CI, 1.26 to 7.82; and OR, 3.68; 95% CI, 1.08 to 12.57, respectively). The risk of suicidal ideation significantly increased with low social support, neurotoxicity and farmer's syndrome (OR, 2.28; 95% CI, 1.18 to 4.40; OR, 6.17; 95% CI, 2.85 to 13.34; and OR, 3.70; 95% CI, 1.51 to 9.07, respectively). Conclusions Given the overall results of this study, there is a need to establish programs which can improve the health and social relationships of farmers. Also, when farmers have neurological symptoms from pesticide exposure and characteristic symptoms of farmer's syndrome, a monitoring system for depression and suicide must be made available.

• 대한한방내과학회지
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• 제41권3호
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• pp.293-305
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• 2020

Purpose: This study aimed to develop a questionnaire for the diagnosis of chronic fatigue syndrome (CFS) designed based on the systematic exertion intolerance disorder (SEID) criteria, and to validate the reliability of the questionnaire. Methods: A literature search on questionnaires for CFS diagnosis was conducted to develop a SEID questionnaire (SEID-Q27), followed by a pilot survey to identify the reliability of the questionnaire. Adults (Daejeon university personnel) with a Chalder fatigue scale (CFQ) score ≥15 were invited for the survey. We commenced the survey in November 2019 with a two weeks of interval for the test and retest method. The reliability of the questionnaire was investigated in three angles: 1. Cronbach's α, 2. correlations (r) of the questions, numerical rating scale (NRS), and visual analog scale (VAS), and 3. kappa (k) analysis. Results: Among the total 275 adults registered, 55 (20%) participants with a CFQ score ≥15 were invited, and 31 (11%) [15 male, 16 female] completed the questionnaire. The total Cronbach's α was 0.944 for the test and 0.949 for the retest. The reliability (r) of questions by CFQ score (≥15, ≥18, ≥20) ranged from 0.533-0.928 (p <0.05), and the r score of the NRS and VAS were the highest in CFQ scores ≥20, at 0.933 (p<0.001). The agreement rate of the SEID-Q27 between the test and retest was 87% (kappa k=0.743). Conclusions: The SEID-Q27 seems to be reliable. Further studies are needed to measure the validity of the tool and the cutoff point.

• Clinical and Experimental Pediatrics
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• 제60권9호
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• pp.282-289
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• 2017

Purpose: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. Methods: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed. Results: Fifteen male and 12 female patients with a mean age of $29.3{\pm}17.6months$ were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with $M{\ddot{o}}bius$ syndrome. Conclusion: As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.