Search
Search Results
-
Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy
Background and objectivesFragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions...
-
The influence of the vaginal ecosystem on vaginitis, bacterial vaginosis, and sexually transmitted diseases: an epidemiological study and literature review
PurposeThis study aimed to demonstrate the correlation between altered balance of the vaginal ecosystem and increased risk of vaginitis, bacterial...
-
Silencing DOCK2 Attenuates Cardiac Fibrosis Following Myocardial Infarction in Mice Via Targeting PI3K/Akt and Wnt/β-Catenin Pathways
Cardiac fibrosis following myocardial infarction (MI) seriously affects the prognosis and survival rate of patients. This study aimed to determine...
-
Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey
BackgroundLipodystrophy syndromes are a heterogeneous group of rare, life-limiting diseases characterized by a selective loss of adipose tissue and...
-
Live birth after vitrification of oocytes from capacitation in vitro maturation
Female fertility preservation is a rapidly growing field in medicine. Oocyte cryopreservation and assisted reproductive technique with...
-
Gemcitabine as chemotherapy of head and neck cancer in Fanconi anemia patients
Fanconi anemia (FA) is a rare hereditary disease resulting from an inactivating mutation in the FA/BRCA pathway, critical for the effective repair of...
-
Predictors of gamete donation: a cross sectional survey study
PurposeIn 2015, assisted reproductive technology (ART) accounted for 1.7% of all U.S. births, donor eggs accounted for over 17,000 started cycles in...
-
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...
-
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....
-
-
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...
-
-
Anti-Müllerian hormone does not predict cumulative pregnancy rate in non-infertile women following four IUI cycles with donor sperm
PurposeTo evaluate the predictive value of serum AMH for clinical pregnancy in non-infertile population undergoing intrauterine insemination with...
-
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...
-
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...
-
Does the gestational age at which the glucose challenge test (GCT) is conducted influence the diagnosis of gestational diabetes mellitus (GDM)?
PurposeThis study’s objective is to investigate disparities in the rates of gestational diabetes mellitus (GDM) diagnosis, influenced by the timing...
-
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...
-
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...
