制度・支援
指定難病 — No.171

ウィルソン病

検索語 Wilson Disease ・ 最終更新 2026-07-22 21:32 ・ 最新に更新

Data Sheet
指定 No.171
Src PubMed · CT.gov · jRCT

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( 01 )EVIDENCE / PUBMED · 5件

世界の論文

直近の研究を、やさしい日本語で

各論文の見出しにある「確からしさ」は、その研究がどれくらい信頼できるかの目安です。「理論段階」はまだ仮説に近く、下にいくほど多くの患者で検証されていて、「メタ解析」がもっとも信頼できます。

観察研究
MK-01 · PMID 42483900

Evaluating quality of colorectal cancer surgery across elective and emergency health systems: secondary analysis of prospective cohort studies in 95 countries

Abstract / 原文

BACKGROUND: The Lancet Oncology Commission on Global Cancer Surgery recommended that access to and the quality of surgical care be improved. This study aimed to understand differences in surgical quality between emergency and elective resection among patients with potentially curative colorectal cancer. METHODS: This preplanned secondary analysis included patients undergoing only curative-intent surgery for colorectal cancer from three contemporary global prospective cohort studies (GlobalSurg-3, 5506 patients; CovidSurg-Cancer, 6719 patients; APOLLO, 876 patients) registered from 2018 to 2023. Hierarchical multilevel logistic regression models quantified associations between the urgency of surgery (elective versus emergency) and surgical quality, measured by margin-positive resection, adjusting for patient, disease, and health system factors. Bootstrap multivariable simulations evaluated effect modification by country income level, cancer stage, and location. RESULTS: Of the 45 699 patients registered, 13 101 across 95 countries were included in this analysis. Overall, 678 patients (5.4%) had margin-positive resections, with higher rates in the emergency than elective surgery group (13.7 versus 4.5%; P < 0.0001). In adjusted multilevel models, emergency surgery was associated with increased odds of margin-positive resections (adjusted odds ratio 2.45, 95% confidence interval (c.i.) 1.86 to 3.22), consistent across all country income groups and robust to alternative health system indicators. Bootstrap-derived absolute risk differences revealed the greatest disparities in patients with stage III-IV rectal cancers, with absolute differences of 12.6% (95% c.i. 10.2 to 15.7) in high-income countries, 19.0% (95% c.i. 13.6 to 23.9) in upper middle-income countries, and 14.1% (95% c.i. 10.9 to 16.5) in lower middle- and low-income countries. Variance decomposition demonstrated that hospital- and country-level factors accounted for 76% of the explained variation in surgical quality. CONCLUSION: Emergency surgery was associated with a two- to threefold increase in the risk of margin-positive resections globally, independent of resource availability, highlighting a neglected area of global surgical practice. These findings challenge the assumption that poorer outcomes after emergency surgery are due to advanced disease stage. For patients presenting as an emergency with potentially curative resection, enhanced decision-making around resectability, ensuring specialist surgeon availability, and developing bridge-to-surgery pathways represent immediate, low-cost strategies to improve global cancer outcomes.

Journal
BJS open(2026 Jul)
Authors
14名
Type
Journal Article
PubMedで原文を見る
観察研究
MK-02 · PMID 42483854

Te Maatai Manawa a Whaanau: Maaori and Pacific People's Experiences of Echocardiography in Rheumatic Fever Health Care in Auckland, New Zealand

Abstract / 原文

AIMS: This research aimed to gain an understanding of rheumatic fever related echocardiography experiences from Indigenous Maaori and Pacific children, adolescents and their whaanau (family members) in the Counties Manukau region of Aotearoa New Zealand to improve these services. METHOD: The study used qualitative Indigenous Kaupapa Maaori consistent and Kakala methodologies. The research was based in the Counties Manukau region of Auckland, New Zealand. Data was collected through interviews with Maaori and Pacific children and adolescents with rheumatic fever or rheumatic heart disease who had recently had echocardiograms and their whaanau. Data was analysed using a general inductive thematic analysis. RESULTS: Seventeen Participants Were Included in the Study. Four Themes Were Identified in the General Inductive Analysis: (1) Communication; (2) Engagement; (3) Access; (4) Kaiaawhina. CONCLUSION: By identifying barriers and facilitators of echocardiography services for rheumatic fever, this research provided knowledge and insights that can assist in developing child, adolescent and whaanau-focused models of care that have the potential to improve patient experience and echocardiography services in Aotearoa New Zealand.

Journal
Journal of paediatrics and child health(2026 Jul)
Authors
10名
Type
Journal Article
PubMedで原文を見る
観察研究
MK-03 · PMID 42483637

Pharmacologic Treatments for MASLD: A Review of Efficacy and Safety Considerations

Abstract / 原文

OBJECTIVE: To summarize and compare current pharmacologic treatment options for metabolic dysfunction-associated steatotic liver disease (MASLD). DATA SOURCES: PubMed was searched for English-language articles published from January 1, 2000, to May 1, 2026. Search terms included MASLD, metabolic dysfunction-associated steatohepatitis (MASH), nonalcoholic fatty liver disease, nonalcoholic steatohepatitis (NASH), pioglitazone, semaglutide, liraglutide, sodium-glucose cotransporter 2 (SGLT2) inhibitors, dapagliflozin, empagliflozin, treatment, and management. STUDY SELECTION AND DATA EXTRACTION: Eighteen publications, including randomized controlled trials, review articles, and practice guidelines, were included in this narrative review article. These articles were included to evaluate the efficacy, safety, and accessibility of the treatment options. DATA SYNTHESIS: Five primary treatment options were reviewed: resmetirom, semaglutide, empagliflozin, dapagliflozin, and pioglitazone. Semaglutide and resmetirom demonstrated the most consistent evidence for MASH improvement including statistically significant improvement in fibrosis (reduction of at least 1 fibrosis stage). Pioglitazone showed improvement in several histologic features; however, findings for fibrosis improvement and placebo-adjusted benefit were inconsistent. Evidence for SGLT2 inhibitors remains promising but limited. CONCLUSIONS: Semaglutide and resmetirom have the strongest evidence for histologic improvement in MASLD/MASH. Pioglitazone and SGLT2 inhibitors may offer benefits in patients with specific comorbidities, but additional research is needed.

Journal
The Journal of pharmacy technology : jPT : official publication of the Association of Pharmacy Technicians(2026 Jul)
Authors
1名
Type
Journal Article, Review
PubMedで原文を見る
基礎研究(細胞・動物など)
MK-04 · PMID 42483518

A functional PCR-CTPP marker targeting an intronic SNP in OsLAC11 gene for detecting kernel smut resistance in rice

Abstract / 原文

Rice kernel smut, caused by the fungus Tilletia horrida Tak., is an emerging disease of rice. The pathogen infects germ cells at the early flowering stage, yet the plant remains asymptomatic until maturity. The rice plant may recognize it as a stress-inducible factor, triggering the expression of various stress-responsive genes and pathways. However, researchers are attempting to identify kernel smut-resistant genes in cell-surface proteins (elicitors), secretory proteins, glycoside hydrolase family proteins, and effector proteins. Based on annotated effector proteins and integrated analyses of available gene-expression datasets, this study aims to identify allelic variation in a putative candidate gene to develop a functional marker for marker-assisted identification of both resistant and susceptible rice lines. The gene OsLAC11 was found to be strongly associated with kernel smut resistance and is expressed on the first day of flowering in rice, which aligns with the infection window and supports its role in resistance. Sanger sequencing of the OsLAC11 gene across ten rice germplasms with varying levels of kernel smut resistance identified two single nucleotide polymorphisms (SNPs) in intronic regions. The first SNP (G/T allele) was used to develop a functional marker using Polymerase Chain Reaction (PCR) with the Confronting Two-Pair Primers (CTPP). This marker effectively differentiated kernel smut-resistant rice lines from susceptible ones and was validated through phenotypic disease ratings. The molecular marker developed in this study represents a significant advancement in breeding for kernel smut resistance, providing a robust tool to accelerate genetic gains and streamline marker-assisted selection in rice improvement programs.

Journal
Frontiers in plant science(2026)
Authors
8名
Type
Journal Article
PubMedで原文を見る
観察研究
MK-05 · PMID 42481911

Correlates of Syringe Acquisition at Syringe Services Program and Pharmacies among Persons Who Inject Drugs: National HIV Behavioral Surveillance, United States, 2022

Abstract / 原文

We assessed correlates (sociodemographic, substance use, and injection-related factors) of obtaining syringes from syringe services programs (SSPs) and/or pharmacies among persons who inject drugs (PWID) in the United States (US) in 2022 to identify gaps in use among subpopulations of PWID. The 2022 National HIV Behavioral Surveillance conducted biobehavioral surveys among PWID using respondent-driven sampling. Using log-linked Poisson regression models, we examined past-year characteristics associated with obtaining syringes from (1) SSPs; (2) pharmacies; or (3) SSPs and pharmacies in the last 12 months. Of 7095 participants, 47% used SSPs (but not pharmacies), 14% obtained syringes from pharmacies (but not SSPs), and 9% used both SSPs and pharmacies in the past 12 months. SSP use was associated with HIV or hepatitis C (HCV)-related outcomes, including PrEP awareness (aPR 1.14, 95% CI 1.07-1.21), HIV behavioral intervention participation (aPR 1.22, 95% CI 1.13-1.31), and having a previous HCV diagnosis (aPR 1.19, 95% CI 1.12-1.26). Incarceration (aPR 1.18, 95% CI 1.06-1.32) and residing in the Midwest vs. the Northeast (aPR 3.52, 95% CI 2.19-5.65) were associated with obtaining syringes from pharmacies. Black/African American PWID were less likely to have used SSPs or pharmacies to obtain syringes compared with White PWID. Participation in several intervention activities aimed at reducing injection-related, adverse health outcomes was associated with SSP use. Obtaining syringes from pharmacies (but not SSPs) was more common among PWID who had been recently incarcerated. Racial/ethnic disparities in use of SSPs and pharmacies persist; HIV and HCV prevention efforts should focus on increasing participation in SSPs and pharmacies among racial/ethnic minority PWID populations.

Journal
Journal of urban health : bulletin of the New York Academy of Medicine(2026 Jul)
Authors
7名
Type
Journal Article
PubMedで原文を見る
( 02 )TRIALS / JAPAN · 0件

日本で参加できる治験

現在 募集中のもの

日本で現在募集中の治験は見つかりませんでした。下の公式レジストリで条件を変えると見つかる場合があります。
( 03 )REGISTRY / jRCT

治験をもっと探す

日本の公式レジストリで全件を確認

上の一覧は ClinicalTrials.gov の一部です。日本国内の治験の多くは、日本の公式レジストリ jRCT にのみ登録されています。下記から最新の全件をご確認ください。

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( 04 )SUPPORT

患者会・相談窓口

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