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Plasma Biomarker Screening Based on Proteomic Signature of Patients with Resistant Hypertension
Resistant hypertension (RH) poses a significant health challenge, yet its underlying pathogenesis remains unclear. This study employs untargeted...
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Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil
BackgroundThe 22q11.2 Deletion Syndrome (22q11.2 DS) presents unique healthcare challenges for affected individuals, families, and healthcare...
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GSTO1 aggravates EGFR-TKIs resistance and tumor metastasis via deglutathionylation of NPM1 in lung adenocarcinoma
Despite significantly improved clinical outcomes in EGFR-mutant lung adenocarcinoma, all patients develop acquired resistance and malignancy on the...
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Germline genome editing of human IVF embryos should not be subject to overly stringent restrictions
This paper critiques the restrictive criteria for germline genome editing recently proposed by Chin, Nguma, and Ahmad in this journal. While praising...
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Phosphorylation of USP27X by PIM2 promotes glycolysis and breast cancer progression via deubiquitylation of MYC
Aberrant cell proliferation is a hallmark of cancer, including breast cancer. Here, we show that USP27X is required for cell proliferation and...
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Connect-ROD – development and qualitative evaluation of a community-based group intervention to support well-being in patients with a rare or orphan disease
BackgroundPatients living with various rare or orphan diseases (ROD) experience common psychosocial difficulties. Those need emerge from a...
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Blood Pressure Variability After Non-invasive Low-level Tragus Stimulation in Acute Heart Failure
Higher blood pressure (BP) variability (BPV) was shown to be strong predictors of poor cardiovascular outcomes in heart failure (HF). It is currently...
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A perspective on epigenomic aging processes in the human brain and their plasticity in patients with mental disorders – a systematic review
The debate surrounding nature versus nurture remains a central question in neuroscience, psychology, and in psychiatry, holding implications for both...
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Beyond black-box models: explainable AI for embryo ploidy prediction and patient-centric consultation
PurposeTo determine if an explainable artificial intelligence (XAI) model enhances the accuracy and transparency of predicting embryo ploidy status...
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Quality of life in patients with acromegaly: a sco** review
PurposeTo evaluate the available evidence regarding the quality of life (QoL) in patients with acromegaly, by synthesizing the psychosocial factors...
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Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid sco** review of available tools and domains
BackgroundLysosomal storage diseases (LSDs) are a group of rare inherited metabolic disorders, consisting of over 70 diseases that are characterised...
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Monitoring of controlled ovarian stimulation in IVF
Since the inception of in vitro fertilization (IVF), monitoring of controlled ovarian stimulation (COS) has traditionally involved numerous...
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A pilot longitudinal study of decrease in cognitive functions during the most painful day of the period among women with primary dysmenorrhea
PurposePainful menstruation is a common problem associated with many limitations in day-to-day functioning. There is limited research on the...
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Homozygous ACTL9 mutations cause irregular mitochondrial sheath arrangement and abnormal flagellum assembly in spermatozoa and male infertility
PurposeTo identify novel variants in ACTL9 and new phenotypes responsible for male infertility.
MethodsGenomic DNA was extracted from peripheral...
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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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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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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...
