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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...
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Basal FSH values are positively associated with aneuploidy incidence in pre-advanced maternal age (AMA) but not in AMA patients
PurposeTo assess the impact of maternal age on the association between maternal basal FSH and aneuploidy.
MethodsA retrospective study including...
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Protective defunctioning stoma in bowel segmental resection at the time of total hysterectomy for endometriosis: when less is more
PurposeTo compare postoperative complications in women undergoing total hysterectomy with segmental resection (TH-SR) for intestinal endometriosis...
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BCORL1, POF1B, and USP9X copy number variation in women with idiopathic diminished ovarian reserve
PurposeTo analyze the copy number variation (CNV) in the X-linked genes BCORL1 , POF1B , and USP9X in idiopathic diminished ovarian reserve (DOR).
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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...
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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...
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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...
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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...
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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...
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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...
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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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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...
