• Clinical and Experimental Reproductive Medicine
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• 제19권1호
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• pp.95-101
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• 1992

During the years 1983 to 1991, cytogenetic analysis was performed on 19 women with Turner syndrome in order to find out the incidence of symptoms and signs according to the classification of chromosome abnormalities. 1. All of them showed short stature and the mean height in 7 adults was $140.71{\pm}5.26cm$. 2. Among the 19 patients with Turner syndrome, 7 (36.8%) had 45, XO karyotype, 7 (36.8%) had 46, Xi (Xq), and remained 5 (26.3%) had mosaicism. 3. Five patients with mosaicism had 45, X/46, XX (2), 45, X/46, Xi (Xq) (2) and 45, X/47, XXX (1), respectively. 4. Patients with 45, XO and 46, Xi (Xq) had amenorrhea, whereas only 33% (1/3) of patients with mosaicism had amenorrhea. Total incidence of amenorrhea was 84.6% (11/13). 5. Abnormal external genitalia was detected in 63.6% of patients. The incidence of abnormality in patients with mosaicism was lower than that of other groups. 6. OMPC and deafness were detected in 3 of 19 patients. 7. Two cases of cardiovascular abnormalities were found in patients with 45, XO. This study suggests that gnenetic counselling according to the classification of chromosomal abnormalities could be needed in patients with Turner syndrome.

• 한국의류학회지
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• 제24권4호
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• pp.521-529
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• 2000

This paper proposed the sizing system for women's upper clothes in order to improve clothing fitness and raise the productivity. The sizing system was classified according to 5 body types and 5 age groups. The size intervals of the basic dimensions were established at regular intervals centering around their means. The size interval of stature was 8cm centering around 158cm and that of bust girth 4cm centering around 84cm and that of hip girth 4cm centering around 92cm. Frequency distribution on the size of upper clothes showed that the most frequent size were 96-96-150 in the longest-fattest type, 88-96-158 in the long-fatter type, 84-92-158 in the medium length-fat type, 84-92-166 in the Short-balanced type, and 76-88-158 and 80-88-158 in the medium length-balanced type. The number of the sizes of upper clothes, which had frequencies more than 5%, was 32 and each size was presented with waist girth, back waist length and sleeve length. The size system classified by age group had 22 cases in the early twenties, 15 cases in the late twenties, 21 cases in the early thirties, 19 cases in the late thirties, and 15 cases in the forties.

• 한국의류산업학회지
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• 제7권4호
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• pp.419-425
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• 2005

The purpose of this study is to analyze the physical characteristic by directly measuring the wheelchair using disabled women. The subjects were 103 disabled women of wheelchair used women and between 20 - 55 years of age. The result of this study is as follow. There was a remarkable difference in the physical characteristic of wheelchair using disabled women due to their cause of disability. The cause of disability was classified into the 4 groups; poliomyelitis, spiral cord injury, muscular dystrophy, cerebral palsy. Poliomyelitis disability generally had a large horizontal area due to their strong upper body. People with spiral cord injury disability was shown to have the largest height, cervical height, waist back length, crotch length, knee length, The group of muscular dystrophy disabled people have the shortest length of body and also lean. The cebral palsy group of disabled people has an average length and height size body. A comparison of anthropometric measurements of wheelchair using disabled women with National Anthropometric Survey Korea(1997) was significant difference. People with poliomyelitis disability was shown to have a larger waist back length, neck point to breast point compared to normal women, but stature, crotch length was shorter compared to normal women. People with spiral cord injury disability had a similar in the vertical area. The group of muscular dystrophy and cebral palsy disabled people was short and smaller in general compared to a normal woman.

• Journal of Genetic Medicine
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• 제9권2호
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• pp.93-97
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• 2012

Kniest syndrome (OMIM #156550) is a rare autosomal dominant disorder caused by a dysfunction of type II collagen, which is encoded by the COL2A1 gene (OMIM +120140) mapped to chromosome 12q13.11. Type II collagen, a molecule found mostly in the cartilage and vitreous tissues, is essential for the normal development of bones and other connective tissues. Kniest syndrome is a type II collagenopathy that presents as skeletal abnormality associated with disproportionate dwarfism, kyphoscoliosis, enlarged joints, visual loss, hearing loss, and cleft palate. This report describes a Korean patient with Kniest syndrome who was diagnosed with typical clinical features and radiologic findings. The patient presented with disproportionately short stature and kyphoscoliosis from birth. A skeletal survey revealed fused lamina in the thoracic spine, hemivertebrae, flexion deformities in multiple joints, and plagiocephaly.

• Neonatal Medicine
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• 제18권2호
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• pp.374-378
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• 2011

누난 증후군은 전형적인 얼굴 모양, 선천성 심질환, 저신장을 특징으로 하는 우성유전 질환으로 출생시부터 임상증상으로 진단하는데 어려움이 있다. 이에 최근 RAS-MAPK 경로 변이로 확진되는 경우가 많고, 유전 변이 유형에 따른 임상 증상이 차이가 나는 경우도 많다. 유전 변이 확진으로 말미암아 임상 증상에 대한 적극적인 치료와 경과 관찰이 중요하므로 저자들은 국내에서 드문 KRAS 유전 변이 환아를 출생시부터 임상증상으로 진단하고 확진한 경험을 하여 이를 보고하는 바이다.

• Radiation Oncology Journal
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• 제29권2호
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• pp.121-126
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• 2011

담도암 환자의 방사선치료 기간 중, 총담도에 삽입된 스텐트가 환자 복부의 우측부터 좌측까지 매우 넓은 범위로 움직인 경우를 발견하였다. 환자는 80세 노령의 여자로 흉추가 심한 척추 후만증을 보였고 흉추와 요추 몇 부위들에 압박골절이 있어서 키가 작았고 복부장기들이 아래로 내려와 있었다. 환자는 쇠약하고 야윈 상태였는데 방사선치료 기간 중 매주 컴퓨터단층촬영을 시행하여 비교한 결과 몸의 좌우방향으로 4 cm 이상의 스텐트의 위치 이동을 보였다. 따라서 흉추 후만증이 있으며서 몸이 매우 야윈 담도암 환자의 경우 방사선치료 범위 설정 시에 치료 기간 중 담도나 스텐트가 크게 움직일 가능성을 고려해야 할 것이다.

• Childhood Kidney Diseases
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• 제13권2호
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• pp.256-260
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• 2009

Russell-Silver 증후군은 자궁내 성장 지연, 특징적인 얼굴 기형, 저신장을 특징으로 하는 질환이다. Russell-Silver 증후군에서 동반되는 신질환은 말굽 신장, 신세뇨관 산증, 물콩팥증, 요관 깔때기막힘, 방광 요관 역류 등이 있다. 저자들은 Russell-Silver 증후군 환자에서 말기 신부전이 발생한 예를 경험하였으며 문헌 고찰에서 유사한 증례를 찾을 수 없었기에 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제54권2호
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• pp.55-63
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• 2011

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH) treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS.

• Clinical and Experimental Pediatrics
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• 제59권1호
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• pp.1-7
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• 2016

Infants born small for gestational age (SGA) are at increased risk of perinatal morbidity, persistent short stature, and metabolic alterations in later life. Recent studies have focused on the association between birth weight (BW) and later body composition. Some reports suggest that fetal nutrition, as reflected by BW, may have an inverse programing effect on abdominal adiposity later in life. This inverse association between BW and abdominal adiposity in adults may contribute to insulin resistance. Rapid weight gain during infancy in SGA children seemed to be associated with increased fat mass rather than lean mass. Early catch-up growth after SGA birth rather than SGA itself has been noted as a cardiovascular risk factor in later life. Children who are born SGA also have a predisposition to accumulation of fat mass, particularly intra-abdominal fat. It is not yet clear whether this predisposition is due to low BW itself, rapid postnatal catch-up growth, or a combination of both. In this report, we review the published literature on central fat accumulation and metabolic consequences of being SGA, as well as the currently popular research area of SGA, including growth aspects.

• Clinical and Experimental Pediatrics
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• 제60권2호
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• pp.31-37
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• 2017

Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents and adults with CAH experience a number of complications, including short stature, obesity, infertility, tumor, osteoporosis, and reduced quality of life. Transition from pediatric to adult care and management of long-term complications are challenging for both patients and health-care providers. Psychosocial issues frequently affect adherence to glucocorticoid treatment. Therefore, the safe transition of adolescents to adult care requires regular follow-up of patients by a multidisciplinary team including pediatric and adult endocrinologists. The major goals for management of adults with 21-hydroxylase deficiency are to minimize the long-term complications of glucocorticoid therapy, reduce hyperandrogenism, prevent adrenal or testicular adrenal rest tumors, maintain fertility, and improve quality of life. Optimized medical or surgical treatment strategies should be developed through coordinated care, both during transition periods and throughout patients' lifetimes. This review will summarize current knowledge on the management of adults with CAH, and suggested appropriate approaches to the transition from pediatric to adult care.