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Article ; Online: Real-world prevalence, time of diagnosis, and co-occurrence patterns of birth defects in live-born infants, 2014-2020: A health administrative database study in Japan.

Ishikawa, Tomofumi / Kawame, Hiroshi / Mano, Nariyasu / Obara, Taku

2023 Volume 115, Issue 18, Page(s) 1723–1736

Abstract: Background: A study evaluating the real-world prevalence of birth defects (BDs), including co-occurrence patterns, will provide the information required to estimate Japan's true BD prevalence and monitor it. Information such as when infants are ... ...

Abstract	Background: A study evaluating the real-world prevalence of birth defects (BDs), including co-occurrence patterns, will provide the information required to estimate Japan's true BD prevalence and monitor it. Information such as when infants are diagnosed with BDs is crucial for defining the study population and data collection period in future administrative database studies. Methods: This study utilized the DeSC database, a large claims database comprising multiple health insurance schemes. The prevalence of major BDs, including structural congenital malformations (CMs) and chromosomal abnormalities, was determined in infants born between 2014 and 2020 and continuously insured for ≥1 year. The time of the first BD diagnosis and multiple BD patterns were also evaluated. Results: Among 43,147 infants, 3050 (7.07%) were diagnosed with major BDs, and 3002 (6.96%) with major CMs. The circulatory system (2.95%) was the most frequent organ system affected by CMs, followed by CMs and deformations of the musculoskeletal system (1.94%). The cumulative diagnostic rates of BDs and CMs at month 6 were 85.9% and 85.6%, respectively. The EUROCAT BD subgroups diagnosed in more than 1.0% of the infants were atrial septal defects (1.47%) and patent ductus arteriosus (1.07%). Among the 2997 infants with EUROCAT BDs, 241 (8.04%) were classified as having multiple BDs. Conclusions: A large claims database is a valuable resource for evaluating and monitoring the prevalence of BDs, including multiple patterns. At least 1 year since birth should be considered in future administrative database studies evaluating BDs as outcomes.
MeSH term(s)	Humans ; Infant ; Prevalence ; Japan/epidemiology ; Chromosome Aberrations
Language	English
Publishing date	2023-09-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	2104792-3
ISSN	2472-1727
ISSN (online)	2472-1727
DOI	10.1002/bdr2.2247
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Zs.A 749: Show issues

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Article ; Online: Loeys-Dietz syndrome with a novel in-frame SMAD3 deletion diagnosed as a result of postpartum aortic dissection: A case report.

Nagao, Takeshi / Inoue, Momoko / Ito, Yuki / Kunihara, Takashi / Kawame, Hiroshi / Samura, Osamu / Okamoto, Aikou

Taiwanese journal of obstetrics & gynecology

2024 Volume 63, Issue 2, Page(s) 225–228

Abstract: Objective: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder which can aggressively affect the aortic vasculature. Limited information is available regarding its impact on pregnancy and postpartum outcomes.: Case ... ...

Abstract	Objective: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder which can aggressively affect the aortic vasculature. Limited information is available regarding its impact on pregnancy and postpartum outcomes. Case report: A pregnant 38-year-old nulliparous woman with mild aortic regurgitation and family history of aortic aneurysms presented with an aortic root measuring 49 mm. Despite concerns of an underlying connective tissue disorder, a definitive diagnosis was not reached. She delivered under strict blood pressure control, developed intractable uterine atony, and underwent uterine artery embolization. On the second postpartum day, aortic dissection was incidentally diagnosed, and aortic root replacement surgery was performed. Genetic testing revealed a novel in-frame SMAD3 deletion [NM_005902.4: c.703_708del, (p.Ile235_Ser236del)], leading to a diagnosis of LDS type 3. Conclusion: This case highlights the high postpartum aortic dissection risk in women with LDS, emphasizing the importance of early diagnosis in pregnant women with few clinical symptoms.
MeSH term(s)	Humans ; Female ; Pregnancy ; Adult ; Loeys-Dietz Syndrome/complications ; Loeys-Dietz Syndrome/diagnosis ; Loeys-Dietz Syndrome/genetics ; Connective Tissue Diseases ; Postpartum Period ; Aortic Dissection/diagnosis ; Aortic Dissection/genetics ; Smad3 Protein/genetics
Chemical Substances	SMAD3 protein, human ; Smad3 Protein
Language	English
Publishing date	2024-01-09
Publishing country	China (Republic : 1949- )
Document type	Case Reports
ZDB-ID	2202946-1
ISSN	1875-6263 ; 1875-6263
ISSN (online)	1875-6263
ISSN	1875-6263
DOI	10.1016/j.tjog.2024.01.018
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Article ; Online: Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan.

Hiromoto, Kana / Yamada, Takahiro / Tsuchiya, Mio / Kawame, Hiroshi / Nanba, Eiji / Goto, Yuichi / Kosugi, Shinji

Congenital anomalies

2024

Abstract: In Japan, a limited number of laboratories perform comprehensive genetic testing for rare diseases; this study investigated the attitudes of these laboratories toward the disclosure of secondary finding (SF). Following a preliminary survey, we identified ...

Abstract	In Japan, a limited number of laboratories perform comprehensive genetic testing for rare diseases; this study investigated the attitudes of these laboratories toward the disclosure of secondary finding (SF). Following a preliminary survey, we identified laboratories conducting comprehensive genetic testing for participation. Subsequently, an online survey involving 20 selected facilities was conducted. The response rate was 80% (16/20). Of the 14 facilities, 71.4% had SFs. While 42.9% of them had a policy to disclose SFs with clinical utility, only 14.3% actively searched for actionable variants that could be included in the American College of Medical Genetics and Genomics list. Japan was less enthusiastic than the USA regarding SF disclosure. With regard to the reasons for not disclosing SFs, the factors "the thought that participants may have a low desire for SFs" and "uncertainty regarding their wish" were considered more important than in the USA. A content analysis of what was sought as a solution to this difficulty revealed a need to improve databases on pathogenicity and actionability and collect public thoughts on the issue. The factor "to promote entry in research" was not considered a critical reason for disclosing SFs, indicating that the thirst for information was not possibly due to anxiety but rather due to scientific interest. Japanese medical professionals may not be confident that society requires the disclosure of SFs. To improve the environment, it is necessary to survey the public regarding their thoughts on SF disclosure and discuss this issue in society.
Language	English
Publishing date	2024-03-26
Publishing country	Australia
Document type	Journal Article
ZDB-ID	228664-6
ISSN	1741-4520 ; 0037-2285 ; 0914-3505
ISSN (online)	1741-4520
ISSN	0037-2285 ; 0914-3505
DOI	10.1111/cga.12562
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Zs.A 1272: Show issues

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Article ; Online: Effectiveness of Lung Ultrasound Training Utilizing a High-Fidelity Simulator.

Takeda, Kenichiro / Kasai, Hajime / Tajima, Hiroshi / Hayama, Nami / Saito, Mikihito / Kawame, Chiaki / Suzuki, Takuji

ATS scholar

2023 Volume 5, Issue 1, Page(s) 133–141

Abstract: Background: The usefulness of lung ultrasound (LUS) has been demonstrated. However, it is unclear whether diagnostic techniques using LUS are accepted by all physicians. A simple simulation-based educational program may improve the LUS skills of ... ...

Abstract	Background: The usefulness of lung ultrasound (LUS) has been demonstrated. However, it is unclear whether diagnostic techniques using LUS are accepted by all physicians. A simple simulation-based educational program may improve the LUS skills of beginners, but it has not been fully assessed. Objective: This prospective study was conducted to assess the educational outcomes of LUS training using a high-fidelity simulator. Methods: A simulator-based program for LUS was conducted. All clerkship students at the Department of Respirology at Chiba University Hospital participated in the program from December 2022 to April 2023. The participants watched a 30 minute teaching video on demand before a hands-on session lasting for 1 hour during the first week of the clinical clerkship. The readiness of the participants to learn LUS and the usefulness of the program were assessed using questionnaires administered before and after the program. The LUS skills were assessed using simulator-based tests during Weeks 1 and 4. Data on the accuracy and time required to answer the questions were collected during the tests. Results: Forty clerkship students participated in this study. Thirty-three (82.5%) had received other ultrasound education; however, only two (5.0%) had experience with LUS. Based on the questionnaire responses, the participants perceived LUS as useful (preprogram: 4.6 vs. postprogram: 4.8; Conclusion: A short educational program consisting of on-demand learning and hands-on sessions with a high-fidelity simulator would be effective in equipping clerkship students with basic LUS skills. However, to increase its educational effectiveness to a practical degree, the program should be improved, and more opportunities for training using simulators should be provided.
Language	English
Publishing date	2023-12-20
Publishing country	United States
Document type	Journal Article
ISSN	2690-7097
ISSN (online)	2690-7097
DOI	10.34197/ats-scholar.2023-0084OC
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Article ; Online: Wireless electronic stethoscope's potential for medical education in ward round examination.

Takeda, Kenichiro / Kasai, Hajime / Hayama, Nami / Saito, Mikihito / Kawame, Chiaki / Maruyama, Kanae / Suzuki, Takuji

Respirology (Carlton, Vic.)

2023 Volume 28, Issue 10, Page(s) 969–971

MeSH term(s)	Humans ; Stethoscopes ; Education, Medical ; Equipment Design ; Auscultation
Language	English
Publishing date	2023-07-25
Publishing country	Australia
Document type	Letter
ZDB-ID	1435849-9
ISSN	1440-1843 ; 1323-7799
ISSN (online)	1440-1843
ISSN	1323-7799
DOI	10.1111/resp.14560
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Zs.A 4957: Show issues

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Article ; Online: Role of Fibrin Monomer Complex in Coronavirus Disease 2019 for Venous Thromboembolism and the Prognosis.

Kawame, Chiaki / Kasai, Hajime / Shiohira, Shunya / Sugiura, Toshihiko / Shiko, Yuki / Sakao, Seiichiro / Suzuki, Takuji

Internal medicine (Tokyo, Japan)

2023 Volume 62, Issue 20, Page(s) 2941–2948

Abstract: Objective Venous thromboembolism (VTE) is a common complication of severe coronavirus disease 2019 (COVID-19) and is associated with its prognosis. The fibrin monomer complex (FMC), a marker of thrombin generation, is reportedly useful in diagnosing ... ...

Abstract	Objective Venous thromboembolism (VTE) is a common complication of severe coronavirus disease 2019 (COVID-19) and is associated with its prognosis. The fibrin monomer complex (FMC), a marker of thrombin generation, is reportedly useful in diagnosing acute thrombosis. To date, there has been only one report on FMC in COVID-19, and the usefulness of FMC in COVID-19 is unknown. We therefore evaluated the frequency of VTE in non-intensive-care unit COVID-19 patients in Japan and determine the clinical utility of FMC in COVID-19. Methods This was a single-center retrospective study. Laboratory test results and outcomes (thrombosis and severe progression of COVID-19) were obtained via medical record review. We assessed the relationship between FMC and VTE incidence and evaluated the association between elevated FMC levels and severe progression of COVID-19. Patients This study included 247 patients with COVID-19 who were hospitalized between December 2020 and September 2021 and had had their levels of D-dimer and FMC measured. Results Of the 247 included patients, 3 (1.2%) developed VTE. All three had elevated FMC levels on admission; however, the D-dimer level was not elevated in one case on admission. The FMC level was significantly higher in the group with severe COVID-19 progression than in the group without severe progression. A multivariate analysis showed that severe progression was associated with elevated FMC levels (odds ratio, 7.40; 95% confidence interval, 2.63-22.98; p<0.001). Conclusion FMC can be useful for diagnosing VTE in the acute phase of COVID-19. Elevated FMC was found to be associated with severity on admission and severe progression.
MeSH term(s)	Humans ; COVID-19/complications ; Venous Thromboembolism/diagnosis ; Venous Thromboembolism/epidemiology ; Venous Thromboembolism/etiology ; Retrospective Studies ; Fibrin Fibrinogen Degradation Products/analysis ; Prognosis ; Thrombosis/complications ; Biomarkers
Chemical Substances	fibrinmonomer ; Fibrin Fibrinogen Degradation Products ; Biomarkers
Language	English
Publishing date	2023-08-02
Publishing country	Japan
Document type	Journal Article
ZDB-ID	32371-8
ISSN	1349-7235 ; 0021-5120 ; 0918-2918
ISSN (online)	1349-7235
ISSN	0021-5120 ; 0918-2918
DOI	10.2169/internalmedicine.1322-22
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Zs.A 240: Show issues

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Article ; Online: Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing.

Hiromoto, Kana / Yamada, Takahiro / Tsuchiya, Mio / Kawame, Hiroshi / Nanba, Eiji / Goto, Yuichi / Kosugi, Shinji

Journal of human genetics

2022

Abstract: Comprehensive genome analysis may reveal secondary findings (SFs) including pathogenic variants of genes other than those originally targeted. Comprehensive genetic analysis of rare diseases is generally performed as research in Japan. Therefore, the ... ...

Abstract	Comprehensive genome analysis may reveal secondary findings (SFs) including pathogenic variants of genes other than those originally targeted. Comprehensive genetic analysis of rare diseases is generally performed as research in Japan. Therefore, the status and difficulties in SF disclosure remain unclear. To obtain information for the appropriate disclosure of SFs in rare diseases, we conducted a survey on how SFs are handled in clinical practice by facilities that outsource comprehensive genetic testing to other facilities. The response rate was 66.7% (40/60). Among the responding facilities, 55% had a policy of disclosing SFs with clinical utility and considered targeting actionable SFs with high penetrance. These facilities had difficulties in determining the disclosure targets (51%) and in genetic counseling (38%). Improving genetic literacy, establishment of surveillance systems, and providing insurance coverage for medical care to unaffected carriers were commonly cited as solutions to these difficulties. A comparison of the willingness to disclose SFs between overseas and in Japan showed more reluctance in Japan (86% vs. 65% for actionable SFs and 62% vs. 16% for non-actionable SFs). The group with difficulty in determining disclosure targets was significantly more likely to discuss this at conferences with other facilities and to refer guidelines. This suggests that the group with difficulties was unable to make decisions solely at their own facility and sought collaboration with other facilities. These findings suggest the necessity for a system that allows consultation with experts across facilities and guidelines that set forth policies for determining SFs.
Language	English
Publishing date	2022-10-03
Publishing country	England
Document type	Journal Article
ZDB-ID	1425192-9
ISSN	1435-232X ; 1434-5161
ISSN (online)	1435-232X
ISSN	1434-5161
DOI	10.1038/s10038-022-01084-3
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Zs.A 201: Show issues

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Article ; Online: The effects of simple graphical and mental visualization of lung sounds in teaching lung auscultation during clinical clerkship: A preliminary study.

Kuriyama, Ayaka / Kasai, Hajime / Shikino, Kiyoshi / Shiko, Yuki / Kawame, Chiaki / Takeda, Kenichiro / Tajima, Hiroshi / Hayama, Nami / Suzuki, Takuji / Ito, Shoichi

PloS one

2023 Volume 18, Issue 3, Page(s) e0282337

Abstract: Introduction: The study aimed to evaluate visualization-based training's effects on lung auscultation during clinical clerkship (CC) in the Department of Respiratory Medicine on student skills and confidence.: Methods: The study period was December ... ...

Abstract	Introduction: The study aimed to evaluate visualization-based training's effects on lung auscultation during clinical clerkship (CC) in the Department of Respiratory Medicine on student skills and confidence. Methods: The study period was December 2020-November 2021. Overall, 65 students attended a lecture on lung auscultation featuring a simulator (Mr. Lung™). Among them, 35 (visualization group) received additional training wherein they were asked to mentally visualize lung sounds using a graphical visualized lung sounds diagram as an example. All students answered questions on their self-efficacy regarding lung auscultation before and after four weeks of CC. They also took a lung auscultation test with the simulator at the beginning of CC (pre-test) and on the last day of the third week (post-test) (maximum score: 25). We compared the answers in the questionnaire and the test scores between the visualization group and students who only attended the lecture (control group, n = 30). The Wilcoxon signed-rank test and analysis of covariance were used to compare the answers to the questionnaire about confidence in lung auscultation and the scores of the lung auscultation tests before and after the training. Results: Confidence in auscultation of lung sounds significantly increased in both groups (five-point Likert scale, visualization group: pre-questionnaire median 1 [Interquartile range 1] to post-questionnaire 3 [1], p<0.001; control group: 2 [1] to 3 [1], p<0.001) and was significantly higher in the visualization than in the control group. Test scores increased in both groups (visualization group: pre-test 11 [2] to post-test 15 [4], p<0.001; control group: 11 [5] to 14 [4], p<0.001). However, there were no differences between both groups' pre and post-tests scores (p = 0.623). Conclusion: Visualizing lung sounds may increase medical students' confidence in their lung auscultation skills; this may reduce their resistance to lung auscultation and encourage the repeated auscultation necessary to further improve their long-term auscultation abilities.
MeSH term(s)	Humans ; Respiratory Sounds ; Clinical Clerkship ; Auscultation ; Lung ; Students, Medical ; Clinical Competence ; Heart Auscultation
Language	English
Publishing date	2023-03-17
Publishing country	United States
Document type	Journal Article
ZDB-ID	2267670-3
ISSN	1932-6203 ; 1932-6203
ISSN (online)	1932-6203
ISSN	1932-6203
DOI	10.1371/journal.pone.0282337
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Article: [Genetic counseling in the era of genomic medicine].

Kawame, Hiroshi

Nihon rinsho. Japanese journal of clinical medicine

2010 Volume 68 Suppl 8, Page(s) 305–309

MeSH term(s)	Genetic Counseling ; Humans ; Precision Medicine
Language	Japanese
Publishing date	2010-08
Publishing country	Japan
Document type	Journal Article
ZDB-ID	390903-7
ISSN	0047-1852
ISSN	0047-1852
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Zs.A 429: Show issues

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Article ; Online: Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.

Takeda, Ryojun / Yamaguchi, Tomomi / Hayashi, Shujiro / Sano, Shinichirou / Kawame, Hiroshi / Kanki, Sachiko / Taketani, Takeshi / Yoshimura, Hidekane / Nakamura, Yukio / Kosho, Tomoki

American journal of medical genetics. Part A

2022 Volume 188, Issue 9, Page(s) 2560–2575

Abstract: Abnormalities in type I procollagen genes (COL1A1 and COL1A2) are responsible for hereditary connective tissue disorders including osteogenesis imperfecta (OI), specific types of Ehlers-Danlos syndrome (EDS), and COL1-related overlapping disorder (C1ROD). ...

Abstract	Abnormalities in type I procollagen genes (COL1A1 and COL1A2) are responsible for hereditary connective tissue disorders including osteogenesis imperfecta (OI), specific types of Ehlers-Danlos syndrome (EDS), and COL1-related overlapping disorder (C1ROD). C1ROD is a recently proposed disorder characterized by predominant EDS symptoms of joint and skin laxity and mild OI symptoms of bone fragility and blue sclera. Patients with C1ROD do not carry specific variants for COL1-related EDS, including classical, vascular, cardiac-valvular, and arthrochalasia types. We describe clinical and molecular findings of 23 Japanese patients with pathogenic or likely pathogenic variants of COL1A1 or COL1A2, who had either OI-like or EDS-like phenotypes. The final diagnoses were OI in 17 patients, classical EDS in one, and C1ROD in five. The OI group predominantly experienced recurrent bone fractures, and the EDS group primarily showed joint hypermobility and skin hyperextensibility, though various clinical and molecular overlaps between OI, COL1-related EDS, and C1ROD as well as intrafamilial phenotypic variabilities were present. Notably, life-threatening vascular complications (vascular dissections, arterial aneurysms, subarachnoidal hemorrhages) occurred in seven patients (41% of those aged >20 years) with OI or C1ROD. Careful lifelong surveillance and intervention regarding bone and vascular fragility could be required.
MeSH term(s)	Collagen Type I/genetics ; Collagen Type I, alpha 1 Chain ; Ehlers-Danlos Syndrome/complications ; Ehlers-Danlos Syndrome/diagnosis ; Ehlers-Danlos Syndrome/genetics ; Humans ; Mutation ; Osteogenesis Imperfecta/complications ; Osteogenesis Imperfecta/diagnosis ; Osteogenesis Imperfecta/genetics ; Phenotype ; Skin Abnormalities
Chemical Substances	COL1A1 protein, human ; COL1A2 protein, human ; Collagen Type I ; Collagen Type I, alpha 1 Chain
Language	English
Publishing date	2022-07-13
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62887
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