• Title/Summary/Keyword: 내분비질환

Search Result 79, Processing Time 0.018 seconds

Evaluation of the Congenital Hypothyroidism for Newborn Screening Program in Korea: A 14-year Retrospective Cohort Study (한국인 선천성 갑상선기능저하증에 대한 신생아선별검사의 14년간의 후향적 연구; 발생빈도와 유효성)

  • Yoon, Hye-Ran;Ahn, Sunhyun;Lee, Hyangja
    • Journal of The Korean Society of Inherited Metabolic disease
    • /
    • v.19 no.1
    • /
    • pp.1-11
    • /
    • 2019
  • Purpose: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder. The purpose of the present study was to determine the incidence of CH in South Korea during the period from January 1991 to March 2004. Methods: Central data from each city branch of SCL (Seoul Clinical Reference Laboratories) in Yongin, South Korea, was gathered and collectively analyzed. Newborn screening (NBS) for CH was based on measuring the levels of neonatal thyroid stimulating hormone (TSH) and free T4 (a cut-off of 20 mIU/L and less than 0.8 ng/dL, respectively). Results: During the study period, 671,805 live births were screened for CH based on TSH and free T4 ELISA assays. A total of 159 newborns were deemed positive for CH out of 671,805, with a corresponding incidence of 1 in 4,225. When a cut-off of 20 mIU/L was used in TSH assays, the associated sensitivity, specificity, and positive predictive values (PPV) were 100.0%, 99.7%, and 10.8%, respectively. When a cut-off of 0.8 ng/dL in free T4 assays was used, the associated sensitivity, specificity, and PPV were 100.0%, 98.5%, and 3.9%, respectively. Conclusion: CH incidence in South Korea as evidenced by the results of NBS was compared with its incidence and comparable to the other countries prior to 2004.

  • PDF

Relationships with Alanine Aminotransferase Activity, and Anthropometric and Biochemical Measures in Obese Children (단순 비만아에서 간효소치와 신체 계측 및 생화학 측정치와의 관련성)

  • Yun, Gyoung-Bin;Kim, Jae-Young
    • Pediatric Gastroenterology, Hepatology & Nutrition
    • /
    • v.12 no.1
    • /
    • pp.30-38
    • /
    • 2009
  • Purpose: To investigate the physical and biochemical parameters related with elevated serum alanine aminotransferase (ALT) levels in obese children. Methods: One hundred forty-two obese or overweight children who visited the out-patient clinics of Chungnam National University Hospital between January 2006 and August 2008 were enrolled. Physical measures and biochemical tests were performed in all patients. Liver sonography was performed in 43 patients. They were divided into the following 2 groups based on ALT levels: group I, normal ALT levels (n=65); and group II, elevated ALT levels (n=77). We compared the physical measures, biochemical results, and ultrasonographic findings of the livers in both groups. Other causes of elevated serum ALT levels were ruled out. Results: The male-to-female ratios were 1.6:1 in group I and 7.6:1 in group II. Among physical parameters, the waist circumference-to-height ratio and hip circumference-to-height ratio were significantly higher in group II (p=0.001 and 0.046, respectively). Among biochemical parameters, aspartate aminotransferase (AST), ${\gamma}$-glutamyltransferase (${\gamma}$-GT), and total cholesterol levels were significantly higher in group II (p<0.001, 0.001, and 0.001, respectively). The AST/ALT ratio was <1 (mean, 0.55) and statistically lower in group II. There was a positive correlation between the serum ALT level and ${\gamma}$-GT (p<0.001, r=0.750), and a positive correlation between the serum ALT level and the waist circumference-to-height ratio in group II (p<0.001, r=0.401). Conclusion: The results suggest that the waist circumference-to-height ratio and ${\gamma}$-GT may be associated with elevated alanine aminotransferase activity in obese children.

  • PDF

A Case of Kabuki Syndrome Confirmed by Genetic Analysis: A Novel Frameshift Mutation in the KMT2D Gene (분자유전학적으로 진단된 가부키 증후군 1례)

  • Park, Su Jin;Ahn, Moon Bae;Jang, Woori;Cho, Won Kyung;Chae, Hyo Jin;Kim, Myung Shin;Suh, Byung Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
    • /
    • v.17 no.3
    • /
    • pp.103-108
    • /
    • 2017
  • Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.

  • PDF

Immunoregulatory Mechanism of Polysaccharides from Natural Plant Resources (신기술 신소재/해외기술 - 천연소재 유래 다당체의 면역조절 기작)

  • Cho, Chang-Won
    • Bulletin of Food Technology
    • /
    • v.26 no.3
    • /
    • pp.178-187
    • /
    • 2013
  • 분자단계에서 천연소재 유래 다당체는 면역 세포 표면(예, 대식세포)에 있는 한가지 또는 여러가지 수용체(${\beta}$-glucan 수용체, mannose 수용체, complement 수용체 3, Toll-like 수용체, scavenger 수용체)와 면역 반응을 시작하기 위하여 결합할 수 있고, 그 후에 신호전달을 위하여 cytokine과 second messenger($Ca^{2+}$, cAMP, cGMP, NO 등등)들을 생성한다. 그 결과로 선천면역과 적응면역을 유도하여 다양한 질환에 영향을 미친다. 추가적으로 다당체들의 면역조절은 신경내분비 체계의 조절과도 연관되어 있다. 최근 수많은 천연소재유래 다당체의 생리활성에 관한 연구가 진행되고 있다. 다양한 연구를 통해 정확한 약효, 낮은 독성과 부작용을 가진 일단의 다당체가 발견되어 현재 임상에서 암 치료에도 사용되고 있다. 이러한 사실들은 면역증진 다당체들이 항 종양치료를 위한 새로운 치료제로서 큰 시장을 개척할 수 있다는 가능성을 보여주고 있다. 이러한 사실에도 불구하고 현재 다당체에 대한 연구는 다음과 같은 취약점을 내포하고 있다. 첫째 다당체의 생리활성에 대한 정해진 비교기준이 없다. 특별히 임상 환경에서는 이러한 연구들이 중국, 일본, 한국과 일부 다른 동양국가들에 국한되어 있어 유럽이나 미국에서의 연구 자료가 결여되어있다. 둘째 현재 연구에 사용되고 있는 대다수의 천연소재 유래 다당체는 순수한 다당체가 아닌 천연 그대로의 것을 사용하고 있어 소재로부터 유래하는 다른 활성성분에 의해 쉽게 영향을 받을 수 있어 순수 다당체가 면역체계에 어떠한 역할을 수행하는지 진단하는데 어려움이 있다. 셋째 면역조절 경로에서 다당체의 정확한 신호전달 경로가 아직 정확하게 밝혀지지 않았고, 또한 동물과 임상실험에서 다당체가 작용하는 수용체 및 신호전달 경로에 대한 상반되는 결과가 발표되고 있기도 하다. 따라서 다당체의 면역조절활성에 대한 연구에 있어 다음과 같은 점들에 주목해야 할 필요가 있다. 첫째 다당체의 구조와 활성간의 상관관계를 밝혀야 할 것이다. 특히 다당체의 세부 구조 및 활성 부위를 밝혀낸다면 분자수준의 면역조절 기작을 명확히 하는데 도움을 줄 수 있을 것이다. 이러한 정보를 확보할 수 있다면 다당체의 구조를 변형시켜 활성을 증진시킬 수 있을 것이며, 또한 활성이 증가된 다당체를 합성하는 일도 가능해 질 것으로 예상된다. 마지막으로 ${\beta}$-glucan과 lentinan과 같은 정제된 다당체의 연구를 지속적으로 수행하여 효과적인 동물실험 및 임상실험 protocol을 확보하고 연구결과들에 대한 database를 구축해야 할 필요가 있다. 이러한 노력들이 성공적으로 수행된다면 천연소재유래 다당체들이 가까운 장래에 암 치료를 포함한 다양한 질병에 적용 가능한 새로운 면역조절제로 사용될 수 있을 것이다.

  • PDF

Secondary Adrenal Insufficiency Initially Misdiagnosed as Depression : A Case Report (우울증으로 오진되었던 이차성 부신기능저하 : 증례 보고)

  • Moon, Duk-Soo;Kang, Won-Sub;Paik, Jong-Woo;Song, Ji-Young;Kim, Jong-Woo
    • Korean Journal of Psychosomatic Medicine
    • /
    • v.19 no.2
    • /
    • pp.109-114
    • /
    • 2011
  • The abnormalities in Hypothalamic-pituitary-adrenal(HPA) axis are associated with many psychiatric symptoms including depression. We present a report of a 71 year old man who was admitted to the psychiatric department presenting symptoms of headache, avolition, loss of energy, psychomotor retardation, poor appetite, insomnia, anxiety resulting from adrenal insufficiency and hypopituitarism. Hypothyroidism and electrolyte disturbance were managed and headache, insomnia, anxiety, GI symptoms were improved. But he remained in anergic state. After discharge, he was readmitted to infection department with high fever and drowsy mentality. Adrenal insufficiency was recognized and he was treated with corticosteroid replacement therapy. Finally his diagnosis was made as panhypopituitarism and overall symptoms were resolved. In this case, we showed how the atypical symptoms resulting from hypopituitarism develop and progress. Hypothyroidism, adrenal insufficiency, and growth hormone deficiency resulting secondarily from panhypopituitarism were associated with various nonspecific symptoms such as loss of energy, fatigue, insomnia, weight loss, decreased appetite etc. In clinical situation, differential diagnosis with depression is needed when clinicians were met a patient with these nonspecific symptoms. It is important that laboratory tests and differential diagnosis with endocrine diseases should be conducted, especially in geriatric patients with nonspecific symptoms like anergia, fatigue, poor appetite and so on.

  • PDF

Clinical Characteristics of Korean Daegu . Kyungpook PCOS Women (대구.경북 지역 한국인 다낭성 난소 증후군 환자의 임상 양상)

  • Bae, Jin-Young;Kim, Mi-Yeon;Sung, Su-Kyung;Oh, Jeong-Eun;Chun, Sang-Sik;Lee, Taek-Hoo
    • Clinical and Experimental Reproductive Medicine
    • /
    • v.36 no.1
    • /
    • pp.71-80
    • /
    • 2009
  • Objective: PCOS is one of the most common endocrine disorder affecting reproductive age women. It shows wide range of reproductive and metabolic manifestations. This study was to determine the differences of clinical and laboratory characteristics between adolescent and adult Korean Daegu Kyungpook PCOS patients. We also compared clinical and laboratory values of Korean PCOS patients to Turkish and American PCOS patients. Methods: 88 cases were diagnosed and enrolled as PCOS patients, based on 2003 Rotterdam criteria, who visited KNUH Reproductive Endocrinology division between Jan. 2000 and Apr. 2008. We retrospectively reviewed clinical characteristics, serum hormone levels, ultrasono-graphic findings. And we divided into 2 groups, adolescent and adult. We analyzed them with Chi-square test and Student's t-test statistically. Results: There were no statistically significant differences between adult and adolescent Korean PCOS patients. The prevalence of hyperandrogenism such as facial acne or hirsutism, obesity, and insulin resistance of Korean PCOS women was significantly lower than Turkish and American PCOS women. Conclusion: From the results of this study, we can suggest that it is sure that there are differences of clinical and laboratory characteristics of PCOS patients between races. Genetic background, dietary habits and life style affect the expression of clinical symptoms of PCOS. But we could not find out the difference between adolescent and adult PCOS patients of same race. It might be due to the limitation of small patient number and narrow range of age distribution. So, there must be large scale and multi-center and multi-regional study.

Evaluation of Clinical Usefulness of EIS(Electro Interstitial Scan) (EIS(Electro Interstitial Scan) 방법의 임상적 유효성 연구)

  • Kim, Soochan;Bae, Jang-Han;Jun, Min-Ho;Kim, Jaeuk U.
    • Journal of the Institute of Electronics and Information Engineers
    • /
    • v.52 no.12
    • /
    • pp.124-133
    • /
    • 2015
  • Electro interstitial scan shows potential as a non-invasive screening method. It can discriminate some diseases based on electric current response to induce low intensity direct current to limbs or local area of body. DDFAO was invented in France and it is claimed that multi-channel EIS(Electro Interstitial Scan) is useful for various diseases, especially, diagnoses of endocrine system such as diabetics are very effective. In this study, we verified the repeatability and sensitivity of DDFAO by using a RC phantom model and its clinical usefulness using data obtained from normal and diabetes subject groups. As a result, it showed the repeatability and the output change according to change of phantom characteristic, but it was hard to distinguish normal and patient groups non-invasively with just six surface electrodes of DDFAO. The repeatability and the clinical accuracy was not sufficient for screening or diagnostic purposes, as well. In spite of the results with low repeatability and accuracy conducted in this study, we still need further investigations to improve the EIS-based measurement method; EIS is very convenient and simple and it shows potential as a screening tool of the whole body health conditions rather than localized disease diagnosis.

Orthodontic treatment of an ankylosed tooth; application of single tooth osteotomy and alveolar bone distraction osteogenesis (유착치의 교정치료; 골절단술과 치조골 신장술의 적용)

  • Kim, Yong-Il;Kim, Seong-Sik;Son, Woo-Sung;Park, Soo-Byung
    • The korean journal of orthodontics
    • /
    • v.39 no.3
    • /
    • pp.185-198
    • /
    • 2009
  • Tooth anklylosis is defined as the adhesion state of alveolar bone to dentin or cementum. Trauma, disturbed metabolic disease, and congenital disease have been given as etiologic factors. Complications of tooth ankylosis are tipping of the neighboring teeth, space loss, and supraeruption of the opposing teeth. Particularly if dental ankylosis occurs in maxillary incisors of a growing child, the ankylosed tooth can not move vertically with subsequent disturbance in vertical growth of the alveolar process. With an appropriate treatment approach, an esthetic condition must be achieved especially in the maxillary anterior region. In this report, two cases are presented which were treated by the surgical repositioning method. One is treated by alveolar bone distraction osteogenesis which used a tooth-borne type distraction device and the other by single tooth osteotomy.

Sporothrix schenckii Infection in a Dog with Concurrent Hyperadrenocorticism and Diabetes Mellitus (부신겉질기능항진증과 당뇨 병발 개에서 Sporothrix schenckii 감염 증례)

  • Song, Jaeyong;Lee, Bareun;Kim, Hyun-Min;Kang, Jooyeon;Cho, Hyunkee;Choi, Ul-Soo;Hwang, Cheol-Yong;Choi, Jung Hoon;Chung, Jin-Young
    • Journal of Veterinary Clinics
    • /
    • v.32 no.6
    • /
    • pp.511-513
    • /
    • 2015
  • A 12-year-old spayed Pomeranian was presented with a purulent, erythematous mass. The dog also suffered from concurrent hyperadrenocorticism and diabetes mellitus. Sporothrix schenckii was isolated through the fungal culture of the mass. Surgical ablation of the mass was performed for the removal of continuous inflammation and fungal infection of deep origin. After histological examination of the mass, severe multifocal pyogranulomatous dermatitis and panniculitis were diagnosed. This is the first confirmed case of pyogranulomatous dermatitis and panniculitis due to Sporothrix schenckii infection in a dog with concurrent hyperadrenocorticism and diabetes mellitus. In addition this is the first case report of sporotrichosis in South Korea.

Changes in Quality of Life and Related Factors of Surgical Patients with Thyroid Cancer (갑상선암 수술환자의 삶의 질 변화와 관련요인)

  • Choi, Hyang-Suk;Kang, Young-Mi;Lee, Tae-Yong
    • Journal of the Korea Academia-Industrial cooperation Society
    • /
    • v.19 no.11
    • /
    • pp.370-379
    • /
    • 2018
  • This study was conducted 1) to investigate the effects of treatment and other factors on the quality of life of thyroid cancer surgical patients and 2) to provide fundamental data for development of an intervention and symptom management program to improve the quality of life of those patients. A total of 76 patients who were diagnosed with thyroid cancer and underwent thyroidectomy from July 2013 to December 2014 participated in this study. To investigate the factors affecting quality of life, a t-test and ANOVA analyses were conducted, after which multiple regression analysis was performed. The results were statistically significant between preoperative and one month after surgery of sex, cancer history, fatigue, and quality of life until 3 months after surgery of stage, cancer history, anxiety, and pain. Multiple regression analysis showed that the most influential factors affecting the quality of life were depression and fatigue at one month prior to and after surgery and anxiety at three months after surgery, while no factors were found to be influential at six months after surgery. Overall, the results of this study suggested that it is imperative to manage depression and fatigue one month prior to and after surgery to reduce the physical and psychological pain experienced by thyroid cancer patients. Moreover, three months after the surgery, anxiety should be closely monitored and controlled to improve the quality of life of the patients. This approach is expected to reduce the burden on the health care system and social costs, which will positively affect public health.