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Chorio-retinal vessel density in women affected by functional hypothalamic amenorrhea: a monocentric observational cross-sectional study to evaluate the impact of hypoestrogenism on chorio-retinal vascularization
PurposeFunctional hypothalamic amenorrhea (FHA) is characterized by an estrogen deficiency which in turn can cause vascular dysfunction. The aim of...
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The characteristics of eating, drinking and oro-pharyngeal swallowing difficulties associated with repaired oesophageal atresia/tracheo-oesophageal fistula: a systematic review and meta-proportional analysis
IntroductionEating, drinking and swallowing difficulties are commonly reported morbidities for individuals born with OA/TOF. This study aimed to...
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Schlafen 11 further sensitizes BRCA-deficient cells to PARP inhibitors through single-strand DNA gap accumulation behind replication forks
The preferential response to PARP inhibitors (PARPis) in BRCA-deficient and Schlafen 11 (SLFN11)-expressing ovarian cancers has been documented, yet...
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Extent of magnitude representation deficit and relationship with arithmetic skills in children with 22q11.2DS
BackgroundPrevious studies have produced conflicting results concerning the extent of magnitude representation deficit and its relationship with...
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Autism spectrum disorder in young patients with congenital central hypoventilation syndrome: role of the autonomic nervous system dysfunction
BackgroundCongenital central hypoventilation syndrome (CCHS) is a rare condition characterized by alveolar hypoventilation and autonomic nervous...
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Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis
BackgroundPrimary carnitine deficiency (PCD) is a rare autosomal recessive fatty acid oxidation disorder caused by variants in SLC22A5, with its...
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Stillbirth in women with Type 1 Diabetes mellitus—still a current topic
PurposeCompared to the general stillbirth rate in Germany for term deliveries of 0.12% the risk in type 1 diabetes mellitus is reported to be up to...
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Tacrolimus versus cyclosporine a combined with post-transplantation cyclophosphamide for AML In first complete remission: a study from the acute leukemia working party (EBMT)
Choice of calcineurin inhibitor may impact the outcome of patients undergoing T-cell replete hematopoietic cell transplantation (HCT) with...
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Semaphorin 3C (Sema3C) reshapes stromal microenvironment to promote hepatocellular carcinoma progression
More than 90% of hepatocellular carcinoma (HCC) cases develop in the presence of fibrosis or cirrhosis, making the tumor microenvironment (TME) of...
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Unlocking therapeutic potential: exploring cross-talk among emerging nuclear receptors to combat metabolic dysfunction in steatotic liver disease
Nuclear receptors (NRs) regulate cellular processes and serve as key targets in treating metabolic dysfunction-associated steatotic liver disease...
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Unveiling the therapeutic prospects of IFNW1 and IFNA21: insights into glioma pathogenesis and clinical significance
Glioma, a type of brain tumor, poses significant challenges due to its heterogeneous nature and limited treatment options. Interferon-related genes...
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Reflections on appropriately liberalizing ART for groups requiring special attention in China
PurposeThe continuous advancement of assisted reproductive technologies (ART) and the evolving attitudes towards marriage and fertility among the...
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Safety and efficacy of COVID-19 vaccination in the Chinese population with pulmonary lymphangioleiomyomatosis: a single-center retrospective study
BackgroundThe safety and efficacy of vaccination against coronavirus disease 2019 (COVID-19) in patients with lymphangioleiomyomatosis (LAM) is still...
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Role of extracorporeal photopheresis in the management of acute and chronic graft versus disease: current status
Extracorporeal photopheresis (ECP) is a therapy that combines the collection of mononuclear cells by apheresis, the addition of a photosensitizer...
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Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis
BackgroundMultiple epiphyseal dysplasia-4 (MED-4, MIM 226900) is a rare autosomal recessive disease characterized by disproportionate height and...
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The effects of age, mature oocyte number, and cycle number on cumulative live birth rates after planned oocyte cryopreservation
PurposeTo examine the effects of age, mature oocyte number, and cycle number on cumulative live birth rates after planned oocyte cryopreservation...
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Analysis of the Rate and Reasons for Discard Blood and Its Components from 2019 to 2022 in a Single Blood Service in China
IntroductionThe discard rate of blood services as a crucial quality metric for monitoring and enhancing blood safety within blood bank operations....
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Novel PATL2 variants cause female infertility with oocyte maturation defect
PurposeOocyte maturation defect (OOMD) is a rare cause of in vitro fertilization failure characterized by the production of immature oocytes....
