Results 131 to 140 of about 5,362,679 (291)

National Clinical Programme for Rare Diseases Workshop on Clinical Research in Rare Diseases

, 2018
The National Clinical Programme was established in December 2013. It is an initiative of the HSE, in partnership with the Royal College of Physicians. A key objective of the Clinical Programme for Rare Diseases is to improve access for rare diseases ...
National Clinical Programme for Rare Diseases
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Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

Somatic Mitochondrial-Nuclear DNA Transfer in Lymphoproliferative Disorders. [PDF]

EJHaem
ABSTRACT Introduction Somatic mitochondrial–nuclear DNA transfer (SMNT) is a process by which mitochondrial DNA (mtDNA), of varying sizes, integrate into the nuclear genome and has been previously reported in solid tumours. Methods EuroClonality‐NGS DNA Capture sequencing data from 755 lymphoid malignancies and 59 lymphoid cell lines were analysed for ...
Stewart JP, Darzentas N, Alcoceba M, Sarasquete ME, Moorman AV, Catherwood M, Regmi B, Pott C, Langerak AW, Gonzalez D.   +9 more
europepmc   +2 more sources

Addendum clinical guideline screening and prioritisation criteria

, 2012
Clinical guideline prioritisation criteria are commonly utilised by various key international bodies and organisations in order to select clinical guidelines for development, appraisal or endorsement at national, regional and local level.
National Clinical Effectiveness Committee
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Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

National Clinical Effectiveness Committee annual report 2013

, 2014
The National Clinical Effectiveness Committee (NCEC) was established as part of the Patient Safety First Initiative in September 2010. The NCECs mission is to provide a framework for national endorsement of clinical guidelines and audit to optimise ...
National Clinical Effectiveness Committee
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Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Illegal Gold Mining in the Brazilian Amazon: Environmental Degradation in Yanomami Indigenous Lands, and Regulatory Failures

Sustainable Development, EarlyView.
ABSTRACT Illegal gold mining has emerged as a major sustainability threat in the Amazon, eroding Indigenous rights, forest integrity, and climate mitigation efforts. This study examines how international market incentives relate to the expansion of illegal mining and associated deforestation within the Yanomami Indigenous Territory (YIT) from 2008 to ...
Shirléia Lago Santos, Ana Claudia de Araujo Moxotó, Jurandir Moura Dutra   +2 more
wiley   +1 more source

Clinical medication review: one step beyond: Computer rules of personal goals? [PDF]

, 2019
In this ageing society, older persons are using more and more medications for chronic diseases. During a clinical medication review, the community pharmacist evaluate all the medication use together with the patient in a personal conversation.
Verdoorn, Marguerita Alexandra, Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology   +2 more
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Advances in research on layered double hydroxides for biomedical applications

Smart Molecules, EarlyView.
Layered double hydroxides (LDHs) are pH‐responsive nanomaterials with broad biomedical applications. This review summarizes LDH synthesis methods and compares their advantages. It highlights LDHs' progress in cancer therapy, including chemo‐photothermal, chemo‐immunotherapy, and photodynamic‐immunotherapy combinations and their potential in bone repair.
Xinhui Yang, Zhiping Zhang, Zhao Wang, Hao Zhang, Yen Leng Pak, Yingying Jing, Yurong Guo, Fang Li, Xiao Wang, Quanxiang Han, Lei Yu, Xuejiao Li, Xing Gao, Jibin Song   +13 more
wiley   +1 more source