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a way of doing something, especially a systematic way; implies an orderly logical arrangement (usually in steps)

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1. 乳幼児および思春期前の小児における通常の成長パターン normal growth patterns in infants and prepubertal children
2. 在胎月齢の生後評価 postnatal assessment of gestational age
3. Fertility awareness法での避妊 fertility awareness based methods of pregnancy prevention
4. 低身長の小児や青年への診断的アプローチ diagnostic approach to children and adolescents with short stature
5. 避妊カウンセリングと選択 contraceptive counseling and selection

Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy.

Ding J1, Zhao D2, Du R3, Zhang Y1, Yang H1, Liu J1, Yan C2, Zhang F3, Xiong H4.
Brain & development.Brain Dev.2016 Feb;38(2):242-9. doi: 10.1016/j.braindev.2015.08.005. Epub 2015 Aug 21.
PURPOSE: LAMA2-related muscular dystrophy (LAMA2 MD) is an autosomal recessive inherited disease caused by LAMA2 gene mutation. The spectrum of the phenotype is expanding in recent years partially due to the definitive diagnosis of molecular genetics. We investigated the phenotype and genotype in a
PMID 26304763

Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.

Cunnusamy K1, Bowman CB, Beebe W, Gong X, Hogan RN, Mootha VV.
Cornea.Cornea.2016 Feb;35(2):281-5. doi: 10.1097/ICO.0000000000000670.
PURPOSE: To describe 2 cases of congenital corneal endothelial edema resulting from novel de novo mutations.METHODS: Case A patient was a 15-month-old white child and case B patient was a 3-year-old Hispanic child presenting with bilateral cloudy corneas since birth. Clinicopathologic findings are p
PMID 26619383

Germline BRCA testing is moving from cancer risk assessment to a predictive biomarker for targeting cancer therapeutics.

Moreno L1, Linossi C1, Esteban I1, Gadea N1, Carrasco E1, Bonache S2, Gutiérrez-Enríquez S2, Cruz C1, Díez O2,3, Balmaña J4.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico.Clin Transl Oncol.2016 Jan 7. [Epub ahead of print]
PURPOSE: Originally, BRCA testing was used for risk assessment and prevention strategies for breast and ovarian cancer. Nowadays, BRCA status may influence therapeutic decision making at cancer diagnosis. Our objective was to analyze whether the medical advances have changed the burden and pattern o
PMID 26742938

Coping Process Against Familial Breast Cancer by Second Patients within Blood Relatives

森田公美子,近藤真紀子
日本看護研究学会雑誌 43(4), 4_715-4_731, 2020
目的：家系で２人目の乳がん患者は，適応力を高め家系の存続を図る中核となる。本研究では，家系で２人目の患者の家族性乳がんへの対処過程を明らかにし家系を守る支援を検討する。 方法：対象者16名に半構造化面接を行い，質的帰納的に分析した。 結果：発端者の闘病を目の当たりにした２人目患者は，乳がん発症前には強制力を伴わない警告と捉え深刻さを和らげる一方 …
NAID 130007906300

Wen Cheng,Wang Shijie,Zhao Xuelei,Wang Xianlei,Wang Xueyao,Cheng Xiaohua,Huang Lihui
BioScience Trends 13(5), 441-447, 2019
… In order to investigate the genetic causes of hearing loss in a Chinese proband (in Family A) with enlarged vestibular aqueduct (EVA) and to investigate the genotype of two Chinese probands with SLC26A4 singe-allelic mutation and normal hearing (in Families B and C, respectively), the three probands and their parents were clinically and genetically evaluated. …
NAID 130007744275

A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient

Liu Yihui,Xu Jiang,Tao Wanyun,Yu Rong,Zhang Xinjiang
Ｊｏｕｒｎａｌ　ｏｆ　Ａｔｈｅｒｏｓｃｌｅｒｏｓｉｓ　ａｎｄ　Ｔｈｒｏｍｂｏｓｉｓ 26(2), 136-144, 2019
… The aim of this study was to identify genetic lesions in patients with HTG.Method: Our study included a family of seven members from Jiangsu province across three generations. … The proband was diagnosed with severe HTG, with a plasma triglyceride level of 38.70 mmol/L. …
NAID 130007588562