Faculty Information - ISHIGURO Kumiko

（Last updated : 2025-06-11 12:51:25）

ISHIGURO Kumiko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Department of Pediatrics

Position Assistant Professor

■ Published papers

1.	Review article	Challenges in genetic counseling for RYR1-related myopathies 2025/06/01
2.	Original article	Cross-Sectional Study of the Association Between Plasma Brain Natriuretic Peptide Levels and Left Ventricular Shortening Fraction in Fukuyama Congenital Muscular Dystrophy 2025/05/28
3.	Original article	Urinary prostaglandin D2 and E2 metabolites are elevated with disease severity in patients with Fukuyama congenital muscular dystrophy. 2025/02
4.	Original article	Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder 2024/06/15
5.	Case report	Rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2024/01/15
6.	Original article	Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy. 2021/12/20
7.	Review article	A short form of gross motor function measure for Fukuyama congenital muscular dystrophy 2020/05
8.	Original article	Renal dysfunction is rare in Fukuyama congenital muscular dystrophy. 2019/01
9.	Original article	Characteristic findings of skeletal muscle MRI in caveolinopathies. 2018/10
10.	Original article	Respiratory management of patients with Fukuyama congenital muscular dystrophy. 2016/03
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■ Academic conference presentation

1.	Two boys with X-linked myotubular myopathy(XLMTM) with findings of peliosis hepatis after infancy （Speech，General） 2025/06/07
2.	Intractable case of generalized myasthenia gravis with transient improvement by Eculizumab （Poster notice，General） 2025/06/06
3.	Study of Motor and Respiratory Function in Ullrich Congenital Muscular Dystrophy （Speech，General） 2025/06/05
4.	A novel RYR1 variant in a congenital myopathy patient is associated with autosomal recessive trait （Poster notice，General） 2024/10/12
5.	Study of upper limb function using Bioelectrical impedance analysis in Fukuyama congenital muscular dystrophy （Speech，General） 2024/06/01
6.	Survey of COVID-19-affected neuromuscular disease patients in Japan （Speech，General） 2024/05/30
7.	Complications in patients with congenital myotonic dystrophy: data from a nationwide myotonic dystrophy registry. （Poster notice，General） 2024/04/10
8.	Juvenile Dermatomyositis with Interstitial Lung Disease after COVID-19: A Case Report. （Poster notice，General） 2024/03/15
9.	A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder （Poster notice，General） 2023/10/14
10.	Study of dysphagia in Fukuyama congenital muscular dystrophy (FCMD) （Poster notice，General） 2023/10/06
11.	Sleep disorders in Fukuyama congenital muscular distrophy （Speech，General） 2023/05/27
12.	Study of dysphagia in Fukoyama congenital muscular dystrophy (FCMD) （Speech，General） 2023/05/27
13.	A boy with novel ACAD9 variant presenting hypertrophic cardiomyopathy, muscle weakness and exercise-intolerance （Poster notice，General） 2023/05/26
14.	Long-term follow-up of skeletal muscle imaging in patients with childhood-onset Pompe disease （Speech，General） 2023/05/26
15.	A boy with spondylodiscitis complicated with epidural abscess induced by exercise （Poster notice，General） 2023/04/16
16.	Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy （Speech，General） 2023/04/16
17.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy （Poster notice，General） 2022/10/14
18.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy （Speech，General） 2022/08/27
19.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy （Speech，General） 2022/06/03
20.	Correlation between BNP and NT-proBNP in muscular dystrophy (Second report) （Speech，General） 2022/06/03
21.	Family association questionnaire on "unmanageable troubled behaviors” in patients with FCMD （Speech，General） 2022/06/03
22.	Nationwide survey of medical care situations for myotonic dystrophy in Japan （Speech，General） 2021/08/28
23.	A symptomatic female MTM1 mutation carrier with right-dominant asymmetric muscle weakness （Poster notice，General） 2021/05/29
24.	Correlation between BNP and NT-proBNP in muscular dystrophy （Speech，General） 2021/05/28
25.	Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy （Speech，General） 2021/05/28
26.	Nationwide survey of medical care situations for myotonic dystrophy in Japan （Speech，General） 2021/05/28
27.	Actigraphy is valid for motor function assessment of Fukuyama congenital muscular dystrophy （Speech，General） 2020/08/19
28.	Considering diagnostic announcement by a survey for parents of myotonic dystrophy patients （Speech，General） 2020/08/19
29.	Efficacy evaluation of Nusinersen for spinal muscular atrophy type 1/2 using bioelectrical impedance （Speech，General） 2020/08/19
30.	Complications of Fukuyama congenital muscular dystrophy revealed from a nationwide registry （Poster notice，General） 2019/10/04
31.	Urinary titin fragment in Fukuyama congenital muscular dystrophy （Poster notice，General） 2019/10/04
32.	A questionnaire for parents about raising children with congenital/childhood-onset myotonic dystrophy in Japan （Poster notice，General） 2019/10/02
33.	Characteristic findings of skeletal muscle MRI in Cavecolinopathies （Poster notice，General） 2019/10/02
34.	Characteristic skeletal muscle imuscle imaging patterns in Japanese patients with Pompe disease （Speech，Panelist at Symposium/Workshop (Appointed)） 2019/07/13
35.	Characteristic findings of skeletal muscle MRI in childhood-onset Cavecolinopathy （Speech，General） 2019/06/01
36.	Efficacy of corticosteroids therapy for Fukuyama congenital muscular dystrophy （Speech，General） 2019/05/31
37.	Urinary titin fragment in Fukuyama congenital muscular dystrophy （Speech，General） 2019/05/31
38.	Care and prevention of foot disorders in Bethelm myopathy patients （Poster notice，General） 2018/06/01
39.	Early diagnosis and prompt initiation of enzyme replacement therapy in a 1-year-old girl with Pompe disease （Speech，Special/Invited Lecture） 2018/06/01
40.	Modified gross motor function measure for Fukuyama congenital muscular dystrophy （Speech，General） 2018/05/31
41.	Time-dependent change of Musce MRI STIR in Fukuyama congenital muscular dystrophy （Speech，General） 2017/10/14
42.	A Japanese nationwide survey on congenital myotonic dystrophy （Poster notice，General） 2017/05/13
43.	Japanese nationwide registry for Fukuyama congenital muscular dystrophy patients study （Poster notice，General） 2017/05/13
44.	Relationship between inpedance obtained by BIA and MR Images of limbs of patients with Fukuyama congenital muscular dystrophy （Poster notice，General） 2017/05/13
45.	The gross motor function measure is valid for Fukuyama congenital muscular dystrophy （Poster notice，General） 2017/05/13
46.	Correlation between MRI STIR image of lower limbs and BIA in the natural course of FCMD patients （Speech，General） 2016/06/03
47.	Nationwide patient registry of Fukuyama congenital muscular dystrophy in Japan （Poster notice，General） 2016/06/03
48.	Our approach which aimed at ideal transition for muscular dystrophy patients to adult health care （Poster notice，General） 2016/06/03
49.	The gross motor function measure is a valid for Fukuyama congenital muscular dystrophy （Speech，General） 2016/06/03
50.	Time-dependent change of Muscle MRI STIR in Fukuyama congenital muscular dystrophy （Poster notice，General） 2016/06/03
51.	Natural history of motor function in patients with Fukuyama congenital muscular dystrophy （Poster notice，General） 2014/10/09
52.	Renal dysfunction in patients with Fukuyama congenital muscular dystrophy （Poster notice，General） 2014/10/09
53.	Skeletal muscle MRI with fat suppression technique can detect early changes in childhood onset Pompe disease in patients receiving ERT （Poster notice，General） 2014/09/27
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■ Education

2015/04～2019/03

〔Doctoral course〕〔Doctorial Course〕 Pediatrics, Graduate School, Division of Medicine, Tokyo Women's Medical University, Completed, Doctor of Philosophy