• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제3권2호
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• pp.188-194
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• 2000

반복되는 구토로 인한 폐렴 증세로 내원하여 분문무이완증, 무루증, 신경인성방광 등의 소견을 보여 Triple A 증후군으로 진단받고, 식도하부 괄약근의 반복 확장술(pneumatic dilatation)로 증상이 소실된 환아 1례를 경험하였기에 이에 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제55권7호
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• pp.224-231
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• 2012

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features include neonatal hypotonia, distinctive facial features, overall developmental delay, and poor growth in infancy, followed by overeating with severe obesity, short stature, and hypogonadism later in development. This paper reviews recent updates regarding the genetic aspects of this disorder. Three mechanisms (paternal deletion, maternal disomy, and deficient imprinting) are recognized. Maternal disomy can arise because of 4 possible mechanisms: trisomy rescue (TR), gamete complementation (GC), monosomy rescue (MR), and postfertilization mitotic nondisjunction (Mit). Recently, TR/GC caused by nondisjunction at maternal meiosis 1 has been identified increasingly, as a result of advanced maternal childbearing age in Korea. We verified that the d3 allele increases the responsiveness of the growth hormone (GH) receptor to endogenous GH. This paper also provides an overview of endocrine dysfunctions in children with PWS, including GH deficiency, obesity, sexual development, hypothyroidism, and adrenal insufficiency, as well as the effects of GH treatment. GH treatment coupled with a strictly controlled diet during early childhood may help to reduce obesity, improve neurodevelopment, and increase muscle mass. A more active approach to correct these hormone deficiencies would benefit patients with PWS.

• 복식문화연구
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• 제13권1호
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• pp.6-17
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• 2005

The purpose of this research is to define low body shapes of Plus-sized women at ages between 21 and 69 whose satisfied the Plus-sized judgment criteria took part in this study. This research also classifies different body types, and provides basic data for designing skirt's and slacks' prototypes according to each body type. Based on factor analysis of the measured data, seven key factors are grouped. And four different body types are classified based on the cluster analysis using factor marks. Type 1 refers to those who are tall in stature and balanced. This body type is characterized by trapezoid body shape when looked from the front, and slim the abdomen, bulge the belly and flat the buttocks when looked from the side. Type 2 refers to short and an obese body shapes, with trapezoid front and bulge abdomen and belly and flat the buttocks. Type 3 refers to those who are of medium height and long-legged body shapes, with rectangular front, protruding belly and buttocks. Type 4 refers to obese body shapes, with rectangular front, protruding abdomen and belly, flat the buttocks. 9 items are available to judge Plus-sized women's low body types and the hit ratio is 93.5%.

• Clinical and Experimental Pediatrics
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• 제58권7호
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• pp.270-273
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• 2015

Legg-Calve-Perthes (LCP) disease is characterized by idiopathic avascular osteonecrosis of the epiphysis of the femur head. The main factor that plays a role in the etiology of the disease is decreased blood flow to the epiphysis. Many predisposing factors have been suggested in the etiology of LCP disease, and most have varying degrees of effects. Here we present the case of a boy aged 4 years and 10 months with complaints of short stature and a diagnosis of multiple hypophyseal hormone deficiency, in whom LCP disease and difficult birth-related pituitary stalk interruption syndrome were identified by anamnesis. The present case revealed that LCP disease and hypophyseal hormone deficiency could be secondary to difficult birth and that LCP disease could be secondary to insulin-like growth factor 1 deficiency. Additionally, to the best of our knowledge there is no published case on the relation between LCP disease and insulin-like growth factor 1 deficiency. Therefore, we believe that this case is worthy of presentation.

• Clinical and Experimental Pediatrics
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• 제58권9호
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• pp.317-324
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• 2015

Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected owing to the strict criteria used to establish a clinical diagnosis. Increased awareness and understanding of KS among clinicians is important for diagnosis and management of KS and for primary care of KS patients. Because mutation detection rates rely on the accuracy of the clinical diagnosis and the inclusion or exclusion of atypical cases, recognition of KS will facilitate the identification of novel mutations. A brief review of KS is provided, highlighting the clinical and genetic characteristics of patients with KS.

• 대한임상검사과학회지
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• 제49권4호
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• pp.495-497
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• 2017

Thalassemia major is a genetic disorder with a defective synthesis of either the alpha or the beta chain of hemoglobin A. Blood transfusion is crucial for the survival in these patients. Unfortunately, endocrine dysfunction is a very common complication in these patients and is principally due to excessive iron overload as a result of frequent blood transfusions. Although regular blood transfusion may increase life expectancy, disturbances in growth and pubertal development, abnormal gonadal functions, impaired thyroid, parathyroid and adrenal functions, diabetes, and disorderly bone growth are common side effects. We hereby present a case of a 23-year-old, unmarried woman with beta thalassemia major presenting with primary amenorrhea, poor development of secondary sexual character, and short stature. Thorough history, clinical examination, and laboratory investigation, including dynamic function test (insulin tolerance test) were conducted. These tests confirmed that she had multiple endocrinopathies, including hypogonadotropic hypogonadism, growth hormone deficiency, and subclinical adrenal insufficiency, which were caused by iron overload. She required hormone replacement therapy. Early recognition of possible deficiencies in hypothalamo-pituitary-end organ hormones caused by iron overload in thalassemia patients that undergo frequent blood transfusion procedures is essential. Appropriate treatments, including transfusion regimen and chelation therapy, as well as specific treatment of each complication are the crucial for the successful management and improvement of quality of life these patients.

• Archives of Plastic Surgery
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• 제38권2호
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• pp.203-206
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• 2011

Purpose: Kabuki syndrome is a multiple malformation syndrome that was first reported in Japan. It is characterized by distinctive Kabuki-like facial features, skeletal anomalies, dermatoglyphic abnormalities, short stature, and mental retardation. We report two cases of Kabuki syndrome with the surgical intervention and speech evaluation. Methods: Both patients had velopharyngeal insufficiency and had a superior based pharyngeal flap operation. The preoperative and postoperative speech evaluations were performed by a speech language pathologist. Results: In case 1, hypernasality was reduced in spontaneous speech, and the nasalance scores in syllable repetitions were reduced to be within normal ranges. In case 2, hypernasality in spontaneous speech was reduced from severe level to moderate level and the nasalance scores in syllable repetitions were also reduced to be within normal ranges. Conclusion: The goal of this article is to raise awareness among plastic surgeons who may encounter such patients with unique facial features. This study shows that pharyngeal flap operation can successfully correct the velopharyngeal insufficiency in Kabuki syndrome and post operative speech therapy plays a role in reinforcing surgical result.

• 패션비즈니스
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• 제6권1호
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• pp.128-136
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• 2002

This study was initiated to study suitability of the apparel sizing systems that utilized in women's ready-to-wear market. To achieve this, the researchers surveyed 383 women from the ages of 18 through 59. The result of this study are followed. 1) The targeted age of the apparel brand does not always correspond with the purchaser's age. The subjects tend to prefer the brands targeting younger women than their age. The women who prefer the brand targeting younger women than their age were less satisfied with the jacket size available in Korean apparel market. They also took into consideration their body size. 2) The subjects who prefer the brands aimed for younger women were dissatisfied with fit at waist and hips. 3) The result of this study also shows that the more sizes are needed for short and tall women. The subjects pointed out that hips of the pants gave worst fit. 4) KS standard size designation system which listed body measurements bust-hips stature was not well known to the consumers.

• Journal of Life Science
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• 제11권2호
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• pp.81-82
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• 2001

The human ribosomal protein 54 genes, RPS4X and RPS4Y are located on the X and Y chromosomes. They have been postulated as candidate for Turner syndrome which was characterized by gonadal dysgenesis, short stature, and various external and internal anomalies. Using the BLAST search program, we identified sixteen RPS4 pseudogenes from the human genome and analyzed them phylogenetically. The RPS4-C12-1, C12-2, and C12-3 pseudogenes from chromosome 12 have been evolved independently during hominid evolution. The RPS4X gene from X chromosome it closely related to the RPS4-C12-2 from chromosome 12 and RPS4-C5 from chromosome 5, whereas the RPS4Y gene is very closely related to RPS4-C16 from chromosome 16. The exact mapping of the RPS4 pseudogene family was peformed, indicating that the RPS4 pseudogene family was mapped on human chromosomes 1, 2, 5, 6, 8, 10, 11, 12, 13, 16, 18, 19 and 20. Taken together, the precise chromosomal localization and phylegenetic relationship of the RPS4 pseudo-genes could be of great use in further study for understanding the Turner syndrome.

• 셀메드
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• 제5권2호
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• pp.10.1-10.3
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• 2015

Arthritis is a major cause of joint pain, stiffness, and subsequent disability which adversely affects quality of life. Seriously, it can lead to long term social and psychological effects including loss of independence, depression, and anxiety. Arthritis is usually treated with joint replacement surgery or medications. However, the artificial joint is temporary and pharmacological measures have side effects, such as addiction or hypersensitivity. Thus, orthotics has been developed to improve arthritis as a nonpharmacological measure. The increased regional load across compartments of articular cartilage is an important factor in the cause of the arthritis. Mubal$^{(R)}$, a clinical shoe insole, has a sliding function to help people to walk straight and realign the body balance. The slide of Mubal$^{(R)}$ reduces the knee joint loading in patients with arthritis. In addition, pumping function of Mubal$^{(R)}$ can mitigate arthritis by stretching the squashed nerves from lumbar to cervical vertebral and actively circulating blood of pelvic limb. In addition, Mubal$^{(R)}$ could help to stimulate the growth plate. Therefore, Mubal$^{(R)}$ can be used for the child with short stature as well as patients with arthritis.