• 대한한방소아과학회지
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• 제21권1호
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• pp.155-171
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• 2007

Objectives : The aim of this study was to investigate the treatment of failure to thrive in current Traditional Chinese Medical Journals. Methods : To figure out the failure to thrive, Chinese Medical Journals from China National Knowledge Infrastructure(CNKI) which was published in 1994 to 2005 were analyzed. 矮(小)-whae(so) was searched. Results : Eleven articles were selected. 5 of them were used herbal medicine, and were showed that the total improvement rate was higher than 70% in failure to thrive. 2 of them were used acupuncture, and the last of them were used a therapy of combining Traditional Chinese Medicine with western medicine. Conclusions : The Oriental medical treatments for failure to thrive were presumed to be effective in most articles. But we think that the more studies are needed.

• 한국의류산업학회지
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• 제17권2호
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• pp.258-264
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• 2015

This study provides abasis for the development of high functional cycle wear with clothing comfort and fitness for highschool boy cyclists by a comparison of the somatotype of highschool boys cyclists and general highschool boys. This study directly measured 44 anthropometric targeted cyclists across Korea. "The sixth national standard physical survey" data targeted 16 to 18-year-old male adolescents; subsequently, anthropometric measurement data was provided by 766 people for research. Highschool boy cyclists used t-test to compare the differences in body type. The results in this study are follows. Highschool boys cyclists(compared to regular highschool boys) indicated a great somatotype stature and weight. The differences in the cervical height and the acromion height results of, cyclist appeared smaller. Cyclists angle of shoulder was smaller. The upper body of highschool boys cyclist was greater than the difference between chest breadth and bust breadth with along biacromion length. The waist front length of the cyclist was a short cycle ride upon the attitude of the streamlined. Highschool boy cyclists indicated that the muscles of the arm portion was more developed compared to general highschool boys. The lower body had less abdominal fat with a significantly developed thigh and calf.

• 대한장애인치과학회지
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• 제11권2호
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• pp.67-71
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• 2015

본 논문에서 소개된 환자는 전형적인 PWS 증상인 섭식 장애, 타액분비감소, 지적장애, 비만과 같은 특성이 관찰되었다. 전신마취 하에서 적극적인 치과 치료를 시행하였고 보호자에게 비만 및 치아 우식을 예방하기 위해 탄수화물과 당분 섭취를 제한하는 식습관에 대한 교육을 시행하였다. 환자의 내원 횟수를 늘려 치과 치료를 위한 전신마취까지 발전하지 않도록 정기적인 관리가 필요하다.

• Annals of Pediatric Endocrinology and Metabolism
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• 제23권4호
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• pp.229-234
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• 2018

X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate accompanied by bilateral genu valgum and short stature. He had received medical treatment with vitamin D (alfacalcidol) and phosphate from the age of 3 to 20 years. He underwent surgery due to valgus deformity at the age of 14 and 15. Targeted gene panel sequencing for Mendelian genes identified a nonsense mutation in PHEX (c.589C>T; p.Gln197Ter) and a mosaic pattern where only 38% of sequence reads showed the variant allele. This mutation was not found in his mother, who had a normal phenotype. This is a case of a sporadic nonsense mutation in PHEX and up to date, this is the first case of a mosaic mutation in PHEX in Korea.

• Journal of mucopolysaccharidosis and rare diseases
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• 제4권2호
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• pp.42-44
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• 2018

Prader-Willi syndrome (PWS) is a multisystemic complex disorder characterized by hyperphagia and impaired satiety which lead to severe and early obesity. In infancy, hypotonia and poor suck are main problems, and a child goes through Failure-to-thrive. During childhood, clinical manifestations change to food seeking as well as excessive weight gain, short stature, developmental delay, cognitive disability and behavioral problems. Also, growth hormone insufficiency is frequent. Most patients receive the recombinant growth hormone (rGH) therapy that provides improvement in growth, body composition, and physical attributes. The clinical care guideline for rGH therapy in PWS had been noticed in 2013. The rGH therapy helps in body fat, lean body mass, height SDS and head circumference. Also, the rGH therapy helps motor function, psychomotor development and cognition and behavioral issues.In Samsung medical center, there are clinical care guidelines for rGH therapy in PWS and an useful application for the patients. 'Living with PWS', the name of an moblie application for PWS patients, was introduced in the lecture. The application revised to version 2. It was made more convenient to users than in version 1. It helps caregivers to schedule the rGH therapy and to monitor height and weight.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.1-9
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• 2019

Noonan syndrome (NS) and NS-related disorders (cardio-facio-cutaneous syndrome, Costello syndrome, NS with multiple lentigines, or LEOPARD [lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and sensory neural deafness] syndrome) are collectively named as RASopathies. Clinical presentations are similar, featured with typical facial features, short stature, intellectual disability, ectodermal abnormalities, congenital heart diseases, chest & skeletal deformity and delayed puberty. During past decades, molecular etiologies of RASopathies have been growingly discovered. The functional perturbations of the RAS-mitogen-activated protein kinase pathway are resulted from the mutation of more than 20 genes (PTPN11, SOS1, RAF1, SHOC2, BRAF, KRAS, NRAS, HRAS, MEK1, MEK2, CBL, SOS2, RIT, RRAS, RASA2, SPRY1, LZTR1, MAP3K8, MYST4, A2ML1, RRAS2). The PTPN11 (40-50%), SOS1 (10-20%), RAF1 (3-17%), and RIT1 (5-9%) mutations are common in NS patients. In this review, the constellation of overlapping clinical features of RASopathies will be described based on genotype as well as their differential diagnostic points and management.

• Journal of Genetic Medicine
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• 제19권1호
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• pp.27-31
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• 2022

X-linked dominant hypophosphatemic rickets are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The female has a history of multiple surgical treatments because of lower limb deformities. Her biochemical findings revealed low serum phosphorus levels with elevated serum alkaline phosphatase activity and normal serum calcium levels, suggesting presence of hypophosphatemic rickets. To identify the molecular causes, we used a multigene testing panel and found a mutation, c.667dup (p.Asp223GlyfsTer15), in PHEX gene. To the best of our knowledge, this is a novel mutation. A heterozygous form of the same variant was detected in daughter, who showed no typical symptoms such as bow legs, frontal bossing, or waddling gate, but presented early signs of impaired mineralization in both X-ray and biochemical findings. The daughter was initiated onto early medical treatment with oral phosphate supplementation and an active vitamin D analog. Because the daughter was genetically diagnosed based on a family history before the onset of symptoms, appropriate medical management was possible from early infancy.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제33권6호
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• pp.681-683
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• 2007

Kabuki(Niikawa-Kuroki) syndrome was first reported by Niikawa et al(1981). The faces of the patients are similar to the make-up of traditional Japanese Kabuki actors: long palpebral fissures, an ectropium of the lateral third of the eyelids, and arching eyebrows with sparse lateral halves. Craniofacial findings include a depressed nasal tip, short nasal septum, large and prominent ears, and micrognathia. Other main features area mild to moderate mental deficiency, short stature, skeletal and dermatoglyphic abnormalities, including prominent finger tip pads. Oral anomalies are common in KS(over 60%) and include abnormal dentition, widely spaced teeth, cleft palate or lip, high vault of palate, hypodontia, conical incisors, screw driver-shaped incisors and ectopic upper 6-year molars. The increased occurrence of cleft lip and palate or the development of a high vault of palate has been described by a number of authors. This condition is believed to be common in Japan, but has been reported from other parts of the world. The objective of this presentation is to report a case of this syndrome in six-year-old girl, with characteristic findings.

• 대한인간공학회지
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• 제28권2호
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• pp.35-55
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• 2009

The purpose of this study was to analyze the somatotypes of women in the early 20's, which were likely to deform due to bad posture in growth period. Accordingly, bodies of women aged 20 to 24, whose growth stopped, were measured directly and indirectly, and factors related to body shapes were extracted, body shapes were categorized based on the data, and the characteristics of each body shape were analyzed. As a result, 10 factors related to body shapes were extracted in the factor analysis, and body shapes were categorized into 6 types. Type 1 was the volume of body that was big and the longest; and the general frame was large. The straight body shape with small back protrusion; the shoulder is relatively thick and the width of the shoulder was normal. Type 2 was the volume of body that was the biggest and the upper body was the longest; the general frame was of average height. The forward body shape with the back flat; the shoulder was very thick, wide, and serious leaning forward. Type 3 was a body that was thin and the shortest. The sway-back body shape with big curvature at the back; the shoulder was thin, narrow, and straight. Type 4 was a body that was short stature, and the general frame was of average build. The forward body shape with the most serious back protrusion; the shoulder was normally thick, narrow, and straight. Type 5 was a group with small body, and the lower body and general frame are long. The sway-back body shape with protrusion at the upper shoulder and the sides leaning backward; the shoulder was thin, wide, and leaning forward. Type 6 was a thin and short body; and the general frame was small. The lean-back body shape with the smallest back protrusion and leaning backward; the shoulder was thin, narrow, and leaning backward. Characteristics of the classified body shapes can be used in producing ready-made clothes, and it is hoped that there will be follow-up studies on clothing pattern design and production based on this result.

• 대한소아치과학회지
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• 제23권3호
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• pp.601-608
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• 1996

저자는 전반적인 치아우식증을 주소로 개인 의원에서 경희대학교병원 소아치과에 의뢰된 10세 여아에서 Robinow syndrome 의 드문 증례의 치료를 시행하고 문헌을 고찰하여 다 음과 같은 결론을 얻었다. 1. 전신소견으로 전두부 돌출, 양안격리, 넓은 안검렬, 들창코 등을 보이는 태아모습의 특정적 안모와 작은키, 짧은 팔, 굽은 손가락, 생식기의 미발육 등이 관찰되었고 전반적인 발육지연이 있었다. 2. 구내소견으로 치아우식, 치아총생, 구개수의 미발육, 수술받은 구개열, 구호흡이 관찰되었다. 3. 이 증후군에서 드물게 보여지는 정신지체, 청각장애, 삼출성 중이염을 동반하였다. 4. 가족력은 발견할수 없었다. 5. 전신마취하에 전반척인 치과치료와 이비인후과치료를 함께 시행하였다. 6. Robinow 증후군은 여러 합병증을 수반할 수 있으므로 타과와의 협력하에 전반적인 검사를 시행하고 포괄적인 협력진료가 요구된다.