• Title/Summary/Keyword: menarche

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Association of SYK Genetic Variations with Breast Cancer Pathogenesis

  • Shakeel, Shafaq;Mahjabeen, Ishrat;Kayani, Mahmood Akhtar;Faryal, Rani
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.5
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    • pp.3309-3314
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    • 2013
  • Spleen tyrosine kinase (SYK) is a non-receptor type cytoplasmic protein and a known tumor suppressor gene in breast cancer. Polymorphisms in SYK have been reported to be associated with cell invasion/cell morality and an increased risk of cancer development. In this case control study, all exons of the SYK gene and its exon/ intron boundaries were amplified in 200 breast cancer cases and 100 matched controls and then analyzed by single stranded conformational polymorphism. Amplified products showing altered mobility patterns were sequenced and analyzed. Twelve variations were identified in exonic and intronic regions of DNA encoding SH2 domain and kinase domain of the SYK gene. All of these mutations are novel. Among them, 5 missense mutations were observed in exon 15 while one missense mutation was found in exon 8. In addition to these mutations, six mutations were also identified in intronic regions. We found a significant association between SYK mutations and breast cancer and observed that Glu241Arg, a missense mutation is associated with an increase risk of ~7 fold (OR=6.7, 95% CI=1.54-28.8), Thr581Pro (missense mutation) is associated with increased risk of ~16 fold (OR=15.5, 95%CI=2.07-115.45) and 63367 T>G (missense mutation) is associated with increased risk of ~13 fold (OR=12.8, 95%CI=1.71-96.71) for breast cancer. Significant associations were observed for each of these variations with both late menopause (p<0.01) and early menarche (p<0.005) cases when compared to controls. Our findings suggest that the polymorphic gene SYK may contribute to the development of breast cancer in at least the Pakistani population. This study provides an insight view of SYK which may provide a significant finding for the pharmaceutical and biotechnology industry.

The Influence of Diet, Body Fat, Menstrual Function, and Activity upon the Bone Density of Female Gymnasts (신체구성성분, 영양상태 및 월경기능이 여자체조선수의 골밀도에 미치는 영향(제2보))

  • 우순임
    • Journal of Nutrition and Health
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    • v.32 no.1
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    • pp.50-63
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    • 1999
  • This study was conducted with 20 female gymnasts and 23 age-matched controls to examine the relationship of diet, menstrual function and bone mineral density (BMD). The results obtained are summarized as follows : Energy intake of gymnasts was 968.9$\pm$421.4kcal, and energy expenditure was 2091.4$\pm$361kcal showing negative energy balance(-1,122.5$\pm$534.6kcal). The average intakes of calcium, iron, vitamin A, thiamin, riboflavin and niacin did not meet the Recommended Dietary Allowances for their age groups. Mean age at menarche in gymnasts is 15.8$\pm$1.2 years compared with 11.8$\pm$2.8 years in age-matched controls. The profile of estradiol, progesterone, and luteinizing hormone was lower than age-matched controls but not significant. Athletic amenorrheic gymnasts(n=12) have the menstrual irregularity(n=10) and amenorrhea(n=2). A number of variables as such nutritional deficiency in diet, negative energy blasnce and hypogonadotropic hormonal status were included. The bone mineral density (BMD) of female gymnasts were significantly higher than controls for the lumbar neck(p<0.001), trochanter(p<0.01), and Ward's triangle(p<0.001), but there were no significant differences for the lumbar spine and forearm. The lumbar spine BMD had a positive correlation with age and lean body weight. The femoral neck BMD was significantly associated with age, group and lean body mass. The trochanter BMD had significant relationship with group, body mass index, energy expenditure and follicular stimulating hormone. Ward's triangle BMD were related to body mass index and follicular stimulating hormone. The significant association was deterced between forearm BMD and age and lean body weight. The major finding of this investigation is that the BMD of gymnasts were higher than age-matched controls despite the fact that gymnasts as a group had inadequate dietary calcium and a higher propensity to have an interruption of their menstrual cycle. These data indicate that grymnsts involved in sports producing significant impact loading on the skeleton had greater femoral neck, trochanter and Ward's triangle bone density than age-matched controls.

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Thin Glomerular Basement Membrane Disease with Herlyn-Werner-Wunderlich Syndrome : Uterus Didelphys, Blind Hemivagina and Ipsilateral Renal Agenesis (비박형 사구체 기저막 질환이 동반된 중복 자궁 일측성 폐쇄질 및 동측 신장 무형성 증후군 ( Herlyn - Werner- Wunderlich syndrome ) 1례)

  • Kim, Myoung-Soo;Park, Yong-Jun;Park, Young-Jun;Park, Noh-Hyuck;Song, Ji-Sun;Kim, Pyung-Kil
    • Childhood Kidney Diseases
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    • v.11 no.2
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    • pp.299-305
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    • 2007
  • Herlyn-Werner-Wunderlich syndrome(HWWs) is a rare variant of Mullerian ductal anomalies characterized by the presence of a hemivaginal septum, a didelphic uterus, and ipsilateral renal agenesis. It usually presents after menarche with progressive pelvic pain, and palpable mass due to hemihematocolpos. If a cystic mass is detected behind the urinary bladder in children, in association with the absence of a kidney, the diagnosis of uterus didelphys with imperforate vagina and hydrocolpos should be considered. When renal agenesis is found in asymptomatic children, the small size and the tubular shape of the uterus makes it almost impossible to evaluate uterine anomalies, so follow-up should be performed until the end of puberty. Appropriate preoperative diagnosis and treatment will prevent unnecessary procedures and offer relief of symptoms. We report one case of didelphic uterus with blind hemivagina and ipsilateral renal agenesis with biopsy- proven thin glomerular basement membrane disease which is not related to the above syndrome.

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Clinical Study of Menstruation Pattern according to Sasang Constitutional Diseases (사상체질 병증별 월경 양상의 임상 연구)

  • Lim, Sung-Rak;Kim, Koo;Oh, Seung-Yun;Kwon, Young-Mi;Joo, Jong-Cheon
    • Journal of Sasang Constitutional Medicine
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    • v.21 no.1
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    • pp.217-226
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    • 2009
  • 1. Objective To investigate characteristics of menstrual patterns according to Sasang Constitutional disease, and to utilize for diagnosis and treatment of Sasang Constitutional disease. 2. Method The recruited subjects were 430 women who convinced their Sasang Constitution by taking herbal medicine and improving of chief complaint. The items of data contain age at menarche, age at menopause, menstrual cycle, menstrual duration, cyclic regularity of menstruation, severity of menstrual pain, the worst day of menstrual pain, type of menstrual pain, amount of menstruation. 3. Results 1) Severity of menstrual pain, the worst day of menstrual pain, menstrual pain accompanied with nausea were significant among Sasang Constitutional diseases. 2) In Bae-chu-pyo-byeong disease (背椎表病證), Wi-wan-han disease (胃院寒證), So-eum disease (少陰證) and Tae-eum disease (太陰證), menstrual pain was severer than other diseases. 3) In Hae-yeok disease and So-yang-sang-pung disease (少陽傷風證), the worst day of menstrual pain was a day before menstruation. In Hyung-gyeok-yeol disease (胸膈熱證), Tae-eum disease (太陰證), So-eum disease (少陰證), the frequency of a day after menstruation in the worst day of menstrual pain was higher than other diseases. In Wi-wan-han disease (胃院寒證), Mang-yang disease (亡陽證), the frequency of two day after menstruation in the worst day of menstrual pain was higher than other diseases. 4) In So-yang-sang-pung disease (少陽傷風證), Mang-eum disease (亡陰證), Eum-heo-o-yeol diasese (陰虛午熱證), Ul-gwang disease (鬱狂證), Tae-eum disease (太陰證), So-eum disease (少陰證), the frequency of menstrual pain accompanied with nausea were higher than other diseases. 4. Conclusion Menstrual patterns, especially menstrual pain is different among Sasang Constitutional diseases. Assessing menstrual pain can be used for diagnosing Sasang Constitutional diseases, deciding treatment course, determinating prognosis.

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Growth Chart for Growth-Assesment of Down Syndrome in Korea (다운증후군아동의 건강지도를 위한 발육차트의 작성)

  • 박천만
    • Korean Journal of Health Education and Promotion
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    • v.15 no.1
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    • pp.97-114
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    • 1998
  • This study's purpose is to clarify the growth pattern of Down Syndrome cases -particulary centering on the adolescent growth pattern - and to draw up a standard growth chart on body height and weight which is one estimation of physical growth for the effective caring of their health. I sampled 269 Down syndrome cases (Male 151, Female 118) whose ages ranged from 6 years of age to adulthood and 348 normal control cases (Male 175, Female 173) who were in same age group with Down Syndrome. We also picked 124 Down syndromes cases(Male 70, Female 54) and gathered 8 year longitudinal data on their body height and weight. The results were that, I found Down syndrome cases' height to be short and their weight to be overweight. As far as age at peak height velocity was concerned, boys were at 11-12 years of age and girls were at 10-11 years of age, showing that girls were about one year faster. Peak height velocity was 6.8cm/yr for boys and 5.4cm/yr for girls. The age at peak weight velocity were 12-13 years for age for boys and 10-11 years of age for girls. Peak weight velocity was 5.7kg/yr for boys and 4.3kg/yr for girls. The menarche age of girls with Down syndrome was anticipated to come about 2 years after peak height velocity and peak weight velocity. Finally, we drew up a standard growth chart and compared it with that of the NCHS, which caused us to come to the conclusion that the Standard Growth Chart for Down syndrome cases in Korea that came out of this study was appropriate for the growth-assesment of Down syndrome.

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Recent Advance in Pathogenesis and Treatment of Precocious Precocity (사춘기 조숙증의 기전 및 치료의 최신 지견)

  • Park, Mi-Jung
    • Development and Reproduction
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    • v.10 no.4
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    • pp.215-225
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    • 2006
  • Precocious puberty is defined as the appearance of secondary sex characteristics before age 8 years in girls (or menarche before age 9 years) and before 9 years in boys. The age of onset of puberty is progressing to younger age. The pubertal activation of gonadotrophin releasing hormone(GnRH) release requires coordinated changes in excitatory or inhibitory amino acids, growth factors, and a group of transcriptional regulators. A number of factors affecting precocious puberty were explored, including the role of genetic factors, nutrition(body fat) and exposure to endocrine disrupting chemicals. In addition to the psychosocial disturbances associated with precocious puberty, the premature pubertal growth spurt and the accelerated bone maturation result in reduced adult height. Precocious puberty may be gonadotrophin-dependent premature activation of the GnRH pulse generator or gonadotrophin-independent. In rapidly progressing central precocious puberty, GnRH agonists appear to increase final height. However more data on the effect and long-term safety of GnRHa are needed.

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Correlation between Bone Maturation and Obese Degree in Childhood (소아기에 있어 비만도와 골성숙도의 상관성)

  • Kim, Hong-Il;Shin, Hyun-Taeg
    • Journal of Korean Medicine for Obesity Research
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    • v.6 no.1
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    • pp.107-115
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    • 2006
  • Objectives : It has been suggested that obesity in childhood may lead early menarche and rapid bony maturation. The purpose of this study is to investigate correlation between bone maturation and obese degree in childhood in Korea. Methods : Height, body weight, BMI, percent body fat were taken 138 patients. Ultrasonic scan was taken through calcaneous of the right foot to evaluate bone age. $DA({\Delta}age)$ was calculated from the difference of bone age and chronological age, and it was used in correlation with obese degree. Results : 1. The average age of patients was $11.91{\pm}2.86$ years old in boys, $11.44{\pm}2.27$ years old in girls. 2. The average BMI was $20.92{\pm}4.53kg/m2$ in boys, $19.76{\pm}4.05kg/m2in$ girls, and average percent body fat was $25.13{\pm}8.23%$ in boys, $27.66{\pm}5.95%$ in girls. 3. The average OI(osteo index) was 37.88 in boys, 36.64 in girls, and average bone age was $12.00{\pm}2.61$ years old in boys, $11.81{\pm}2.11$ years old in girls. 4. There was significant correlation between $DA({\Delta}age)$ and PBF in boys, but no significant correlation with BMI(p<0.05). 5. There was significant correlation between $DA({\Delta}age)$ and PBF, BMI in girls(p<0.01). 6. There was significant correlation between RA and OI(p<0.01). Conclusion : It is suggested that obese degree may have an impact on early bony maturation especially in case of girls.

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Clinical and Endocrine Characteristics of Patients with McCune-Albright Syndrome (McCune-Albright 증후군의 임상적 및 내분비학적 특징)

  • Kwun, Yoojin;Kim, Yoo-Mi;Kim, Ja-Hye;Choi, Jin-Ho;Yoo, Han-Wook
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.13 no.2
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    • pp.120-125
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    • 2013
  • Purpose: McCune-Albright syndrome (MAS) is caused by activating mutations in the GNAS gene, resulting in peripheral precocious puberty, caf$\acute{e}$-au-lait spots, and polyostotic fibrous dysplasia (POFD). The aim of the present study was to describe the diverse clinical and endocrine characteristics of patients with MAS. Methods: Seven patients with MAS were included in this study and medical charts were reviewed retrospectively for following parameters: patient's sex and age at diagnosis, POFD, ovarian cysts, and precocious puberty. Results: The mean age at diagnosis was $5.8{\pm}4.2$ years. One patient was male (14%) and the other six patients were female (86%). Peripheral precocious puberty was associated with 6 patients (86%). Five patients manifested premature menarche as early as 2 to 5 years of age. Letrozole was administered to 4 patients, tamoxifen to one patient and GnRH agonist to one patient. Five females developed ovarian cysts. Thyroid function tests were performed in all patients and one patient showed hyperthyroidism (14%) and has been treated with methimazole. One patient presented with pseudohypoparathyroisdism, phosphaturia, calciuria suggesting hypophosphatemic rickets. Six patients (86%) revealed POFD. One patient had symptoms of optic nerve compression and secondary esotropia and 2 patients had bone pain. Conclusion: This study described clinical characteristics and endocrine complications of patients with MAS. Careful physical examinations with history taking and serial endocrine function tests should be needed to detect complications such as endocrinologic hyperfunction and POFD.

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Effect of Childbirth Age on Bone Mineral Density in Postmenopausal Women

  • We, Ji Sun;Han, Kyungdo;Kwon, Hyuk-Sang;Kil, Kicheol
    • Journal of Korean Medical Science
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    • v.33 no.48
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    • pp.311.1-311.10
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    • 2018
  • Background: In postmenopausal women, there is rapid bone loss due to estrogen depletion. In women, reproductive factors such as age at menarche, breastfeeding, and parity are considered risk factors of osteoporosis. Many reports suggest that obesity is associated with a reduced risk of osteoporosis. This nationwide, population-based study aims to identify the association between maternal age and osteoporosis risk in postmenopausal women of different obesity classifications. Methods: We assessed data from the Korean National Health and Nutrition Examination Survey 2010-2012. The study included 1,328 postmenopausal women, after excluding women with missing data for reproductive history among 4,546 postmenopausal women in the survey. Multivariate regression was used to identify the association between childbirth age and postmenopausal bone mineral density after adjustments for confounding factors. Results: The prevalence of postmenopausal osteoporosis was 35.24% (n = 468). After dividing the subjects into obese and non-obese groups based on body mass index (BMI) and waist circumference, there were significant differences between non-osteoporosis and osteoporosis groups with regard to age at first childbirth, age at last childbirth, and parity in the BMI-based general obesity group. The prevalence of osteoporosis was highest in women older than 35 years old at last childbirth. The prevalence of osteoporosis was also greater in women with parity ${\geq}4$ compared to those with lower parity levels. Conclusion: Postmenopausal women of older age at last childbirth and higher parity were at increased risk of osteoporosis in the BMI-based non-general obesity group.

Convergence study to detect metabolic syndrome risk factors by gender difference (성별에 따른 대사증후군의 위험요인 탐색을 위한 융복합 연구)

  • Lee, So-Eun;Rhee, Hyun-Sill
    • Journal of Digital Convergence
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    • v.19 no.12
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    • pp.477-486
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    • 2021
  • This study was conducted to detect metabolic syndrome risk factors and gender difference in adults. 18,616 cases of adults are collected by Korea Health and Nutrition Examination Study from 2016 to 2019. Using 4 types of machine Learning(Logistic Regression, Decision Tree, Naïve Bayes, Random Forest) to predict Metabolic Syndrome. The results showed that the Random Forest was superior to other methods in men and women. In both of participants, BMI, diet(fat, vitamin C, vitamin A, protein, energy intake), number of underlying chronic disease and age were the upper importance. In women, education level, menarche age, menopause was additional upper importance and age, number of underlying chronic disease were more powerful importance than men. Future study have to verify various strategy to prevent metabolic syndrome.