• Journal of Genetic Medicine
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• 제17권2호
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• pp.102-107
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• 2020

We report the case of an infant with a 4q35.1 deletion with 10p duplication. This mutation is rarely reported in the literature and has been found to have variable clinical findings, often including developmental delay. In this case, the condition was detected by chromosomal microarray analysis after initial manifestation of a feeding problem and developmental delay. Minor dysmorphic features with abnormal neurological examination led to further evaluation. The father's chromosome complement was 46, XY, t(4;10)(q35;p12.2). Parental balanced translocation can go unrecognized, because affected individuals are often phenotypically healthy until they have fertility issues such as recurrent miscarriages or children with severe congenital disorders. Genetic diagnoses help to establish a clear family genetic background that permits the development of clear treatment strategies. Prenatal counseling can also help to understand the possible risks associated with pregnancy or future child planning.

• 대한장애인치과학회지
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• 제12권2호
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• pp.72-76
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• 2016

저자는 뇌병변 장애와 보행장애로 반복적인 외상성 치아손상을 받은 환아의 치료를 시행하였다. 최근 실활된 미성숙 영구치의 계속된 치근 형성을 위해 재생적 근관치료 술식이 많이 시도되어 성공적인 결과를 보이고 있다. 하지만 장애로 인해 반복적인 외상의 위험을 가진 환아에서 치수조직의 재생 보다는 치근단형성술을 통한 치근단의 폐쇄와 근관 충전이 비용과 장기적인 예후의 측면에서 유리한 치료방법이 될 수 있음을 확인하였다.

• 지역사회간호학회지
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• 제9권2호
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• pp.280-290
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• 1998

This study was carried out to idenify the health problems and needs of crippled persons in order to develop a community based rehabilitation service program through public health center. Information on health problems and needs were obtained from 120 crippled persons staying at home by questionaire and a measuring ADL. The results were summarized as follows 1. Among 120 subjects, male crippled (70.3%) outnumbered female crippled (29.7%). Many crippled persons belonged to the 40-49 age group (33.6%) while others were over 60 years (17.4%). There were 36.8% crippled persons with an elementary education, 26.5% had completed high school, 14.5% had completed middle school. 31% of the crippled persons were employed but most of them had unskilled jobs. 80% of the respondents replied that their monthly income was under 800,000 won. 2. The major causes of their handicap were due to acquired factors(92%) such as accidents, in fectious & communicable diseases and chronic diseases rather than congenital factors(8%). Crippled persons who belong to the first grade of disabilities were 14.8%, the second grade 35.7%, the third grade 21.7%, the forth grade 12.2%, the fifth grade 12.2% and the sixth grade 3.5%. 3. This study measured the degree of the ADL of crippled persons by a modified Barthel Index including 11 items. 73.5% of them were fully independent, 8.5% required minimal help, 2.7% required moderate help, 6.0% required substantial help and 9.4% were unable to perform task. In response to the 11 items of ADL, crippled persons required more help in stair climbing, ambulation and bathing than in other items. 4. In responding to concerning health problems, 10.3% of the subjects replied with incontinence, 8.5% malnutrition, 7.6% fecal incontinence and bedsores 2.6%. Chronic diseases which needs treatment were chronic pain(61.0 %), hypertension(16.5%) and diabetes(16.5%) 5. To the question of what type of rehabilitation services subjects required, chronic diseases management(52.1%) and physical therapy (41.2%) were the highest. The most important social welfare services subjects required were economics support (51.3%) and introductions to job opportunities(42%).

• Clinical and Experimental Pediatrics
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• 제57권3호
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• pp.140-148
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• 2014

Purpose: Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome. Methods: The clinical findings and results of genetic studies were reviewed for 12 male patients diagnosed with Lowe syndrome at a single medical institution. Results: The mean age of the patients at presentation was 2.2 months (range, 0-4 months), although the diagnosis was delayed by a mean of 2.8 years (range, 0-9.7 years). The mean follow-up period was 9.0 years (range, 0.6-16.7 years). Nine mutations in OCRL were identified in 11 patients (92%), with three novel mutations. The main presentation was congenital cataract in both eyes necessitating early cataract removal in the 11 patients with impaired visual acuity. Profound short stature and developmental delay were observed in all patients, and seizures occurred in 50% of the patients. All patients suffered from proximal renal tubular dysfunction, and one patient developed chronic renal failure. Other manifestations included pathologic fracture (50%), cutaneous cysts (42%), and cryptorchidism (42%). However, there was no bleeding tendency, and none of the patients died during the study period. Conclusion: This study describes the clinical and genetic characteristics of Korean patients with Lowe syndrome. The observations are helpful for understanding the natural courses of Lowe syndrome and for appropriate genetic counseling.

• Journal of Genetic Medicine
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• 제6권2호
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• pp.175-178
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• 2009

22q11.2미세중복 증후군은 학습장애, 선천적 기형에서부터 정상에 이르기까지 다양한 표현형을 나타내는 증후군으로써, 22q11.2 미세결실 증후군인 DiGeorge 증후군과 동일한 위치에서 발생하는 질환이며, 이러한 원인은 유전적 불안정성이 높은 low-copy repeats (LCR) 부위에서 일어나는 유전체의 결손이나 중복에 의해 형성되는 것으로 보고되고 있다. 최근 array CGH가 임상분야에 적용됨에 따라 22q11.2 미세중복 증후군의 진단이 증가되고 있다. 이론적으로 22q11.2 부위의 미세중복이나 미세결실의 빈도는 동일하게 발생해야 하지만, 현재까지 미세결실에 비해 미세중복의 증례보고는 상대적으로 드물며 이는 증상이 없는 경우가 많기 때문인 것으로 알려져 있다. 특히 이전 보고에서 산전에 발견된 미세중복의 증례는 단1례 만이 보고된 바 있다. 저자들은 산전에 진단된 22q11.2 미세중복 증후군 1례의 보고를 통해 유전상담의 중요성과 array CGH의 임상 적용에 관하여 논하고자 한다.

• Child Health Nursing Research
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• 제2권2호
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• pp.45-57
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• 1996

A serious disease in a family influences the entire family member given the fact that the members closely interact with each other. Especially in terms of pediatric nursing, study on family gains importance as the need to care of families whose children with developmental disabilities and chronic disease This study was done based on The Resiliency Model of Family Adjustment and Adaptation(McCubbin, 1991) is intended to examine the stress of parents whose children suffer from cleft lip or /and cleft palate. It also helps them to cope with the stress and analyze the relationship between the stress and coping This study used Family Inventory of Life Events and Changes (FILE) and Coping Health Inventory for Parents(CHIP) for measuring family stress and coping. The two instruments are revised to fit the social and cultural environment of Korean culture. Data collection was done from April 18, 1996 to May 18, 1996 at 8 University medical centers located in Seoul. Those who answered questionnaires were 84 parents whose children have cleft lip or /and cleft palate. SPSS PC+ was used to analyze the data collotted. Programs used for data analysis were t-test, ANOVA, Pearson correlation coefficient. The study is summarized as follows .1. The average score of family stress is 10.46(percentage of the full score 24.90) and 'finance and business strains'(3.25), and 'intrafamily strains'(2.65) ranked the highest. The average score of family's coping is 1.93, which is close to the answer of' moderately helpful' and they are measured to put their utmost efforts to' intergration and cooperation of family and optimistic definition on the situation'. 2. There is no significant statistical correlation between the family stress and coping. 3. Mothers show more stress than fathers in the parts of 'illness and family care strains' and 'losses'(t〓-2.34, t〓-2.32, p<.05). 4. Fathers show more willingness to cope with the stress than mothers do in the parts of' seeking social support','self-esteem','emotional comfort' 5. Mothers are more stress than fathers in the parts of family stress and its coping with it by usual traits(t〓-2.78, p<.05). Parents with religion are measured to cope more willingly than those who are not 6. Income of a family shows positive correlationship with family coping (r〓.28, p<.05). The study shows that gender difference is significant variable in studying on family stress and coping. Mothers get more stress than fathers, which has much to do with the fact that they are in charge of raising children and keeping houseworks. Accordingly, managing family crisis and its survival can be induced by giving support for the mothers, studying fathers including the rest of the family members and giving nursing care and arbitration ; religious background is also considered to be one of the important factors in family stress , judging from the relationship between family income and family's coping, caring given to suffering children is needed on societal levels. The above considerations bring up the need to have a longitudinal study of children with congenital anomaly including cleft lip or /and cleft palate and their families about family stress and coping. Resiliency programs on family system and their effectiveness and the relationship between the enlarged families with social and cultural values reflecting Korean tradition are also needed to be studied.

• Clinical and Experimental Pediatrics
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• 제50권11호
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• pp.1061-1066
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• 2007

목 적 : 소아의 발달 장애는 조기에 발견하면 조기 치료가 가능하게 되어 치료 효과가 높아지고 후유 장애를 최소화할 수 있다. 발달 장애의 조기 발견을 위하여 기존에 사용해 오던 정식 발달 선별검사는 대부분 시간이 오래 걸리고, 복잡하며, 의료인력이 추가로 필요하기 때문에 바쁜 소아과 외래에서 모든 소아에게 적용하기는 어렵다. 기존의 발달검사 대신에 부모가 작성한 내용을 토대로 평가하는 발달 설문 양식들 중 Ages and Stages Questionnaire (ASQ)는 60개월 이전의 소아의 발달 선별을 목적으로 개발된 검사이다. 본 연구의 목적은 소아과 외래에서 시행하는 발달 지연의 선별 도구로서 ASQ의 타당성을 알아보기 위한 것이다. 방 법 : 가톨릭대학교 의과대학 부속 성모병원 소아과 외래를 방문한 소아의 부모에게 진료 전 대기 시간 동안 한국형 ASQ (K-ASQ)를 완성하도록 하였다. 설문지를 완성한 총 150명 중 만삭 출생아이며 이전에 발달지연의 진단을 받은 적이 없고, 기타 선천성 기형, 경련성 질환을 포함한 신경학적 이상, 유전성 질환의 경력이 없는 소아 67명을 대상으로 하였다. K-ASQ는 각 영역별로 평균에서 2 표준편차(SD) 아래 점수보다 낮으면 "실패"로 판정하며, 한 발달 분야 이상에서 "실패"가 있는 경우를 "선별검사 양성"으로 하였다. 최종 발달평가는 Bayley Scales of Infant Development-II (BSID-II)를 사용하여 판단하였으며, 지능 혹은 운동발달 지수가 평균보다 -1 SD 미만인 경우는 발달지연으로 판정하였다. K-ASQ의 결과를 BSID-II와 비교하여 분석하였다. 결 과 : 1) 대상아의 평균 연령은 $16.4{\pm}7.4$개월($6{\pm}30$개월 범위, 중앙치 14개월)이었다. 10명(14.9%)은 출생 시 부당경량아였으며, 평균 출생체중 $3.1{\pm}0.6kg$, 재태기간 $38.8{\pm}1.4$주이었다. 9명(13.4%)이 쌍생아였고, 33명(49.0%)이 남아였다. 대상 소아들의 모친의 평균 교육 기간은 $13.6{\pm}2.4$년, 53명(79.1%)이 고등학교 졸업 이상의 학력을 가졌고, 21명(31.3%)이 정규직 근무자였다. ASQ 설문지를 완성하는데 평균 $10.2{\pm}3.0$분이 소요되었다. (2) 17명(25.4%)이 ASQ 선별검사 양성이었는데, 그 중 4명은 발달이 지연되었고, 나머지 13명의 발달은 정상이었다. BSID-II로 판정한 발달 지연아 8명 중 4명은 ASQ 선별검사에서 양성이었고, 다른 4명은 선별검사 음성이었다. ASQ 선별검사 음성인 50명 중 4명이 발달지연으로 판단되었다. (3) BSID-II와 비교한 K-ASQ의 민감도(sensitivity)는 50.0%, 특이도(specificity) 78.0%, 양성 예측치 (positive predictive value) 23.5%, 음성 예측치(negative predictive value)는 92.0%로 나타났다. 결 론 : K-ASQ는 높은 음성 예측치를 보여 소아과 외래에서 소아 발달 지연의 선별 도구로서 사용하는 것이 타당한 것으로 판단되었다.