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Obstetric cholestasis and its impact on the maternal outcome
AimTo evaluate the association of GDM and pre-eclampsia in women with obstetric cholestasis.
Materials and methodsPregnant women with > 28 weeks...
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Bone Turnover Markers Levels in a Cohort of Egyptian Children with Sickle Cell Disease
Bony complications are variable and common in sickle cell disease. Bone turnover markers are a reflection of bone new bone formation or degradation....
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A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem
People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many...
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Assessment of the Prognostic Importance of The Revised International Staging System Based on Plasmacytoma Presentation in Recently Diagnosed Patients with Multiple Myeloma
The rapid development of fluorescence in situ hybridization (FISH) karyoty** led to the discovery of the significant prognostic impact of certain...
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B Lineage Acute Lymphoblastic Leukemia with concurrent IGH and EPOR rearrangements – An Entity with Dismal Outcome
The EPOR rearrangement, an uncommon cytogenetic abnormality linked to BCR::ABL1 -like B-ALL, is often underdiagnosed due to the absence of a robust...
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Unveiling the untreated: development of a database algorithm to identify potential Fabry disease patients in Germany
BackgroundFabry disease (FD), an X-linked lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase A, resulting in...
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Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel
PurposeAn increasing number of patients with Duchenne muscular dystrophy (DMD) now have access to improved standard of care and disease modifying...
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Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study
BackgroundHypoglycaemia is the primary manifestation of all the hepatic types of glycogen storage disease (GSD). In 2008, Glycosade ® , an...
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Circulating circ_0069094 is Correlated with the Present and Endothelial Injury of Acute Coronary Syndrome
To investigate the impacts of circ_0069094 on acute coronary syndrome. Real-time polymerase chain reaction was used to detect the expression levels...
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Efficacy and safety of D-penicillamine, trientine, and zinc in pediatric Wilson disease patients
ObjectivesWilson disease (WD) is a rare genetic disease affecting copper metabolism and the biliary tract’s copper excretion. Lifelong medication is...
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Comparative effects of different treatments based on the levonorgestrel intrauterine system in endometrial carcinoma and endometrial hyperplasia patients: a network meta-analysis
ObjectiveLevonorgestrel intrauterine system (LNG-IUS) has been widely used in patients with endometrial carcinoma (EC), endometrial hyperplasia...
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Genetic factors of oocyte maturation arrest: an important cause for recurrent IVF/ICSI failures
Oocyte maturation arrest (OMA) is a common phenotype observed in IVF/ICSI cycles, characterized by the production of immature oocytes which lead to...
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Androgen transition and management of hereditary angioedema long-term prophylaxis in real life: a single-center case series
BackgroundHereditary angioedema (HAE) is a rare and potentially life-threatening disease that manifests clinically as recurrent episodes of swelling...
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Risk of teratogenicity in continued pregnancy after gestational exposure to mifepristone and/or misoprostol: a systematic review and meta-analysis
PurposeThis meta-analysis aimed to comprehensively assess the teratogenic risk to offspring associated with continuing pregnancy after administering...
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TMAO Impairs Mouse Aortic Vasodilation by Inhibiting TRPV4 Channels in Endothelial Cells
Trimethylamine oxide (TMAO) is an intestinal flora metabolite associated with risk of cardiovascular diseases. Transient receptor potential vanilloid...
