著者

大塚 末野

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.35, no.8, pp.489-496, 1965-08

著者

小川 百合子 大谷 敏嘉 児玉 公二 富岡 光枝 内潟 安子 平田 幸正

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.61, no.9, pp.928-928, 1991-09-25

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第2回スポーツ健康医学懇談会 平成3年3月2日 東京女子医科大学臨床講堂2

著者

松尾 真理

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.93, no.6, pp.113-118, 2023-12-25 (Released:2023-12-25)

参考文献数

7

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As medical science advances, the implementation of medical genetics is required in all areas of medicine. Genetic information has the following characteristics: 1) it does not change throughout a person's life, 2) it can predict the incidence of diseases, 3) it can affect blood relatives, and 4) it has inherent ambiguity. Therefore, care must be taken in handling this information. The Department of Medical Genetics specializes in handling genetic information. The Institute of Medical Genetics was established at Tokyo Women's Medical University in 2004. The important roles of our institute can be summarized as 1) providing genetic counseling; 2) providing accurate diagnosis and appropriate testing for hereditary diseases and congenital syndromes, including cancer; and 3) serving as a hub for routine management and medical care for people with hereditary diseases or congenital syndromes. Secondary findings may be found as a result of comprehensive genomic analyses, such as whole-genome sequencing and whole-exon sequencing. Genetic counseling is the process of helping people understand and adjust to the medical, psychological, and familial implications of a disease with genetic involvement. Thus, it is necessary for all physicians to have genetic counseling as part of their standard knowledge. Furthermore, medical geneticists and genetic counselors provide appropriate genetic counseling in a team setting for clients in the Department of Medical Genetics.

著者

宮野 裕 片桐 さやか 荻原 哲 光星 翔太 松本 卓子 新井田 素子 倉田 厚 神崎 正人

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.93, no.6, pp.119-122, 2023-12-25 (Released:2023-12-25)

参考文献数

10

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Hemangiopericytomas are soft tissue tumors of pericyte origin that line the capillaries and venous intima. It accounts for less than 1% of all brain tumors, but has a high rate of recurrence and metastasis even after complete resection. A 75-year-old male was admitted to our hospital for an examination of a right lung nodule following surgery for cerebral hemangiopericytoma. This case underwent open lung biopsy by video-assisted thoracic surgery, and metastatic hemangiopericytoma was revealed. No new pulmonary metastases have since been detected, and the patient is currently under a strict follow-up protocol.We report a surgical case of pulmonary metastasis, which is rare in this disease.

著者

髙橋 健一郎 本間 哲 鈴木 恵子 加藤 文代 杉原 茂孝

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.87, no.Extra1, pp.E118-E124, 2017-05-31 (Released:2017-07-31)

参考文献数

30

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We present a case of Kawasaki disease (KD) complicated by clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS). A 2-year-old boy was brought to the emergency outpatient unit because of recurrent convulsions. He had experienced two episodes of KD at the age of 1 year. Both episodes had been treated with high dose intravenous immunoglobulin therapy (IVIG; 2 g/kg/day) and the patient had recovered from both episodes without any sequelae. He was diagnosed as having KD based on the presence of 5 out of 6 criteria. After hospitalization, the patient exhibited a persistent disturbance of consciousness and was diagnosed as having MERS based on the presence of enhanced signals in the splenium of the corpus callosum on the 3rd day of illness. Initial treatment with IVIG plus pulsed methylprednisolone (30 mg/kg/day×3 days) for MERS was started. However, a high fever recurred on the 7th day. Additional treatment with IVIG plus intravenous prednisolone (2 mg/kg/day) was started on the 8th day. The patient's body temperature normalized on the 9th day and maintenance therapy with prednisolone was continued until the 28th day. Despite some risk factors for coronary artery lesion, the patient was discharged without any sequelae because of twice IVIG and aggressive steroid therapy including steroid pulse therapy.

著者

本田 卓 針谷 正祥

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.93, no.4, pp.93-98, 2023-08-25 (Released:2023-08-25)

参考文献数

8

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Genome wide association study (GWAS) is a type of genetic analysis that looks for association between a particular disease or trait and single nucleotide polymorphism (SNP). The polygenic risk score is the sum of the number of risk alleles weighted the GWAS-estimated effect sizes of each SNP on a disease. Researchers have been exploring the use of polygenic risk score (PRS) to predict disease risk and personalize treatment plans, an approach known as precision medicine. Our study was the first to demonstrate that a PRS based on GWAS data for rheumatoid arthritis (RA) onset can also predict joint damage progression. In particular, we found that the PRS is more accurate for predicting joint damage progression in young-onset patients with RA. To facilitate large-scale validation of our findings, we developed an artificial intelligence-based joint damage scoring system. This system will enable us to further investigate the relationship between PRS and disease severity in a larger, more diverse population. Further research is needed to refine the PRS construction method, particularly in terms of identifying the most informative SNPs and optimizing the weighting scheme for risk alleles.

著者

數間 貴紀 新井 麻子 大谷 智子 老谷 嘉樹 鈴木 恵子 松永 保

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.93, no.2, pp.67-72, 2023-04-25 (Released:2023-04-25)

参考文献数

10

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Tay-Sachs disease involves accumulation of GM2 gangliosides in lysosomes due to a metabolic disorder of brain-abundant gangliosides. In the infantile type, death typically occurs by 3 years of age. We report brain magnetic resonance imaging (MRI) abnormalities in a case of infantile Tay-Sachs disease. The 8-month-old patient had development delay and began regression at 1 year of age. A cherry-red fundus spot and low β-hexosaminidase A (Hex A) levels in leukocytes indicated GM2 gangliosidosis. Gene analysis identified homozygous pathogenic variants in the HEXA gene, leading to Tay-Sachs disease diagnosis.At 10 months of age, brain MRI showed age-appropriate myelination. At 1 year 9 months, T2-weighted imaging showed high intensity in the subcortical white matter, with delayed myelination. At 2 years 4 months, the cerebral white matter, putamen, caudate nucleus, thalami (except ventral), middle cerebellar peduncle, and dentate nucleus showed high intensity on T2-weighted imaging. At 5 years 8 months, cerebral and basal ganglia atrophy was observed. The caudate nucleus and putamen showed high intensity on T1-weighted images and low intensity on T2-weighted images. Unlike typical infantile Tay-Sachs characteristics, higher Hex A activity in this case probably contributed to a milder phenotype and myelination acquisition during infancy.

著者

篠原 英美 衞藤 薫 勝浦 美沙子 橋本 和典 佐藤 友哉 水落 清 西川 愛子 永田 智

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.93, no.2, pp.62-66, 2023-04-25 (Released:2023-04-25)

参考文献数

14

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We report a case of pediatric Fabry disease in a girl whose pain was relieved and quality of life (QOL) improved with enzyme replacement therapy (ERT). Her father was diagnosed with Fabry disease based on the examination findings for pre-renal transplantation due to renal failure. Therefore, examinations were performed for her. Urinary mulberry bodies were positive, and the genetic analysis for α-galactosidase A (GLA) revealed a nonsense variant, leading to the diagnosis of pediatric Fabry disease. At 8 years of age, she presented with pain in the distal portion of the extremities and abdomen, which persisted despite oral carbamazepine. Therefore, ERT was provided. After initiation of ERT, blood lyso-Gb3 levels decreased, and extremity and abdominal pain improved. We asked her and her parent questions about QOL before and 12 months after the start of ERT. The European Quality of Life Five Dimension Youth showed improved scores for usual activities and pain or discomfort, and self-scoring of physical and mental condition on the European Quality of Life Visual Analogue Scale improved from 22 before ERT to 70 after 12 months of ERT. Pediatric Quality of Life also showed improved scores for physical and emotional functioning. Similar results were obtained by questioning the parent. Although the questionnaire is subjective and depends on the patient's physical condition at the time, we speculate that ERT improved QOL. Since the severity of clinical symptoms in women with Fabry disease varies, regular follow-up and appropriate intervention soon after the appearance of organ involvement are important to improve QOL and prevent complications.

著者

倉持 笑子 山田 洋輔 長谷川 久弥 丸田 沙也香

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.93, no.2, pp.57-61, 2023-04-25 (Released:2023-04-25)

参考文献数

7

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Background: Surfactants are produced sufficiently after 34 weeks of gestation as the fetal lungs mature. The stable microbubble test (SMT) evaluates fetal lung maturity. However, late preterm infants sometimes present with severe respiratory distress and require appropriate respiratory care.Methods: We reviewed 42 late preterm infants who underwent the SMT with gastric aspiration upon admission to our neonatal intensive care unit. The gestational age was 35.3 (34.6-36.0) weeks, and the birth body weight was 2,181 (1,971-2,527) g. We classified the patients into the premature and mature groups based on the results of the SMT. We investigated the results of the SMT in late preterm infants and compared lung maturity with the maternal and neonatal respiratory clinical courses.Results: There were 12 infants in preterm group (28.6%). The gestational age of the premature group was significantly longer, and the Apgar scores were lower in the premature group. Mothers of the premature group had significantly more cases of gestational diabetes mellitus. Respiratory distress syndrome was significantly more frequent, and infants in the premature group required invasive ventilation more frequently.Conclusions: We found that a small number of neonates produced sufficient surfactant, even in late preterm infants. It is suggested that the production of surfactants is related to gestational diabetes mellitus more than gestational age, and the SMT is useful in late preterm infants.

著者

赤川 浩之

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.93, no.2, pp.49-56, 2023-04-25 (Released:2023-04-25)

参考文献数

28

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Intracranial aneurysms (IA) cause subarachnoid hemorrhage (SAH), which has high mortality and morbidity rates when rupture occurs. The success of genome-wide association studies (GWASs) followed by phenotypic confirmation in transgenic mice has supported the implication of genetic factors in the formation of IA. For example, a Sox17-deficient mouse model was established based on previous GWAS findings, confirming the development of IA resulting in SAH following Sox17 deficiency. The most recent international GWAS identified over half of the disease heritability of IA, including 17 risk loci using more than ten thousand patients. The remaining proportion of heritability, the so-called missing heritability, can be explained by the effects of rare variants detected by next-generation sequencing (NGS). In this review, we discuss the current knowledge regarding genetic factors associated with IAs provided by GWAS and rare variant analysis using NGS.

著者

静間 徹 小幡 裕 林 直諒

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.70, no.1/2, pp.36-38, 2000-02-25

著者

石川 恒

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.26, no.1, pp.36-41, 1956-01-25

著者

丸山 正隆

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.56, no.6, pp.533, 1986-06-25

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第17回消化器病センター例会 昭和61年1月25日 東京女子医科大学消化器病センター2階カンファレンスルーム

著者

杉原 茂孝

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.87, no.Extra1, pp.E11-E21, 2017-05-31 (Released:2017-07-31)

参考文献数

39

被引用文献数

1

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Childhood-onset type 1 diabetes (T1D) is a relatively rare disease in Japan. In our department, we have around 50 patients with T1D. The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT) was established in 1994. Here, I will introduce the current issues surrounding T1D in the form of answers to eight questions.T1D is classified into T1A (autoimmune) and T1B (idiopathic). T1A is an autoimmune disease in which pancreatic β cells are destroyed by both genetic and environmental factors. Associations with HLA and other gene polymorphisms (SNP) have been reported. The incidence of childhood-onset T1D is reportedly increasing in Europe and the US, but not in Japan. Autoimmune thyroid disease has been shown to accompany T1D frequently. Insulin pump therapy (CSII) is useful and has recently become popular for the treatment of younger children. A carbohydrate counting (Carbocount) is recommended by international medical practice guide lines for T1D. A smooth transition of medical care is required from pediatric clinics to adult clinics. The goals of treatment for T1D are normal growth and development and self-reliance as an adult. For these goals to be reached, social and psychological support is needed.

著者

景山 孝正

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.32, no.3, pp.103-116, 1962-03-25

著者

佐藤 加代子

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.89, no.4, pp.73-82, 2019-08-25 (Released:2019-09-06)

参考文献数

46

被引用文献数

3

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Differences in cardiovascular disease are found between the genders. In women, it is known that estrogen has both indirect and direct protective effects on the cardiovascular system. This includes a decrease in low-density lipoprotein cholesterol (LDL-C), an increase in high-density lipoprotein cholesterol (HDL-C), the vasodilatation response by endothelial Nitric Oxide Synthase (eNOS) synthase, and prostacyclin synthesis.Many cases of coronary spastic angina and acute coronary syndrome (ACS) have been observed during the menstrual and the late luteal phases of the menstrual cycle, corresponding with low levels of estrogen. After menopause, the risk of atherosclerosis and associated conditions such as; dyslipidemia, hypertension, obesity, diabetes, T cell activation, and adhesion molecules, increase. Consequently, the risk of a cardiovascular event also increases. In addition, regarding the pathological mechanism underlying ACS, erosion is observed most prominently during pre-menopause, whereas plaque rupture is observed in post-menopause.Furthermore, microvascular angina is often found in menopausal women displaying various symptoms, thus a diagnosis may be difficult. We recognize a decrease in vascular endothelial function and the coronary flow reserve and a high level of lactic acid in the coronary sinus as diagnostic criteria. Regarding problems associated with the "super-aging" society, there are many elderly female patients with HFpEF (heart failure with preserved ejection fraction) who have diastolic dysfunction. Also well-known are cases of atherosclerosis and osteoporosis progressed by common risk factors, and recently, vascular bone disease.There are characteristics in women for microvascular angina and heart failure, as well as ischemic heart disease, due to atherosclerosis caused by the sex hormone environment in later life stages. Considering gender-specific medicine in the prevention and treatment of cardiovascular disease is important for healthy aging of women.

著者

稲本 一夫

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.59, no.4, pp.308-315, 1980-04-25

著者

井川 杏奈 中神 朋子 田中 祐希 内潟 安子

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.87, no.Extra2, pp.E246-E253, 2017-11-30 (Released:2018-02-15)

参考文献数

7

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Objective: This study aimed to assess the relationship between personality and obesity in patients with type 2 diabetes.Research Design and Methods: Patients with type 2 diabetes (n=62) completed the Maudsley's Personality Inventory (MPI) questionnaire to assess their tendency for extraversion (E) and neuroticism (N) and their tendency to lie (L). Patients were categorized into three groups per measure and their clinical characteristics were compared.Results: Half of the patients demonstrated a combination of high E scores and low N scores. An inverse correlation between body mass index (BMI) and E and N scores was observed, but was not significant. Patients in the highest BMI quartile (BMI ≥34.3 kg/m2) had the highest N scores compared to those in the lowest BMI quartile (BMI ≤22.7 kg/m2) (p<0.05). The same correlation was observed for leptin levels and N scores, which was significant. There were no differences in E, N and L scores across the adiponectin or alanine transaminase quartiles.Conclusion: Obese Japanese patients with type 2 diabetes may be more introverted and neurotic than those with lower BMIs. Greater attention should be paid to treatment individualization for these diabetic patients.

著者

倉持 英和

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.92, no.1, pp.1-7, 2022-02-25 (Released:2022-02-25)

参考文献数

19

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Recent advances in molecular biology have led to identification of molecules associated with carcinogenesis and the development of molecular-targeted drugs that selectively attack qualitative or quantitative molecular changes in cancer cells. Molecular-targeted drugs are classified into "small molecules" and "therapeutic monoclonal antibodies" due to these modalities' difference in molecular weight. Molecular-targeted therapy is often guided by clinically meaningful biomarkers, including the gain or loss of function in cancer-related target genes, which could occur due to point mutations, amplification events, fusions, or deletions. Potent therapeutic effects can be expected from targeting mutations, called driver mutations, which directly underlie carcinogenesis, using corresponding molecular-targeted drugs. In recent years, the development of next-generation sequencing technologies has made it possible to quantitate expression of hundreds of gene sequences at once, and an oncogene panel containing genes related to cancer has been approved for coverage by the national health insurance in Japan. Precision Medicine is medical care designed to optimize efficiency or therapeutic benefits for particular patient groups or individual patients using genetic or molecular profiling. Precision medicine is finally underway in Japan due to recent advances in the development of molecular-targeted drugs and development of affordable diagnostic methods.

著者

山下 恵子

出版者

東京女子医科大学学会

雑誌

東京女子医科大学雑誌 (ISSN:00409022)

巻号頁・発行日

vol.45, no.8, pp.699-700, 1975-08-25

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東京女子医科大学学会第197回例会 昭和50年5月22日 東京女子医科大学本部講堂