George K. Papadimas
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View article: Sperm-Derived Extracellular Vesicles (Sperm-EVs), Emerging Biomarkers and Functional Modulators in Male Infertility and Assisted Reproduction
Sperm-Derived Extracellular Vesicles (Sperm-EVs), Emerging Biomarkers and Functional Modulators in Male Infertility and Assisted Reproduction Open
Background/Objectives: Approximately 50% of infertility cases are attributable to male factors; yet conventional semen examination can not identify the molecular abnormalities that hinder sperm functionality. Extracellular vesicles (EVs) d…
View article: ‘‘Non-Invasive Extracellular Vesicle Biomarkers in Endometriosis, Molecular Signatures Linking Pelvic Inflammation, Oocyte Quality, and IVF Outcomes’’
‘‘Non-Invasive Extracellular Vesicle Biomarkers in Endometriosis, Molecular Signatures Linking Pelvic Inflammation, Oocyte Quality, and IVF Outcomes’’ Open
Endometriosis impairs fertility by interfering with ovarian function, embryonic development, and endometrial receptivity. Extracellular vesicles (EVs) are recognised as non-invasive biomarkers that may indicate biological processes based o…
View article: Ferroptosis in the Ovarian Follicular Microenvironment: A Redox-Dependent Cell Death Pathway with Emerging Roles in PCOS, Oocyte Quality, and IVF Outcomes
Ferroptosis in the Ovarian Follicular Microenvironment: A Redox-Dependent Cell Death Pathway with Emerging Roles in PCOS, Oocyte Quality, and IVF Outcomes Open
Ferroptosis is a novel kind of regulated cell death that occurs when redox equilibrium is disrupted, leading to iron-dependent lipid peroxidation. Ferroptosis is defined by the buildup of deleterious lipid hydroperoxides, the inactivation …
View article: Impact of Bariatric Surgery on the Expression of Fertility-Related Genes in Obese Women: A Systematic Review of LEP, LEPR, MC4R, FTO, and POMC
Impact of Bariatric Surgery on the Expression of Fertility-Related Genes in Obese Women: A Systematic Review of LEP, LEPR, MC4R, FTO, and POMC Open
Obesity is a multifaceted disorder influenced by various factors, with heredity being a significant contributor. Bariatric surgery is the most effective long-term intervention for morbid obesity and associated comorbidities, while outcomes…
View article: Invisible Links: Associations Between Micronutrient Deficiencies and Postpartum Depression—A Systematic Review
Invisible Links: Associations Between Micronutrient Deficiencies and Postpartum Depression—A Systematic Review Open
Background: Following childbirth, up to 20% of women may have postpartum depression (PPD), which can adversely affect the mother’s health, the infant’s development, and familial connections. Numerous causes exist, although recent research …
View article: Molecular Signatures of Obesity-Associated Infertility in Polycystic Ovary Syndrome: The Emerging Role of Exosomal microRNAs and Non-Coding RNAs
Molecular Signatures of Obesity-Associated Infertility in Polycystic Ovary Syndrome: The Emerging Role of Exosomal microRNAs and Non-Coding RNAs Open
Polycystic ovarian syndrome (PCOS) is one of the most common endocrine and metabolic conditions affecting women of reproductive age. This condition affects around 20% of this demographic and is characterized by polycystic ovarian morpholog…
View article: From Petri Dish to Primitive Heart: How IVF Alters Early Cardiac Gene Networks and Epigenetic Landscapes
From Petri Dish to Primitive Heart: How IVF Alters Early Cardiac Gene Networks and Epigenetic Landscapes Open
Numerous infants have been conceived by in vitro fertilization (IVF) and other assisted reproductive technologies (ART). Increasing evidence indicates that these approaches induce minor alterations in molecules during the initial phases of…
View article: Rescuing Fertilization Failure in ICSI: A Narrative Review of Calcium Ionophore Activation, PLCζ Testing, and Embryo Morphokinetics
Rescuing Fertilization Failure in ICSI: A Narrative Review of Calcium Ionophore Activation, PLCζ Testing, and Embryo Morphokinetics Open
Fertilisation failure following intracytoplasmic sperm injection (ICSI) is a significant challenge in assisted reproductive technology (ART), particularly in the absence of an identifiable cause. Artificial oocyte activation (AOA), typical…
View article: Evaluation of the Effectiveness and Accuracy of Non-Invasive Preimplantation Genetic Testing (niPGT) Compared to Invasive Embryo Biopsy
Evaluation of the Effectiveness and Accuracy of Non-Invasive Preimplantation Genetic Testing (niPGT) Compared to Invasive Embryo Biopsy Open
Background: Preimplantation genetic testing for aneuploidy (PGT-A) is a popular approach in assisted reproductive technology that improves embryo selection and implantation rates. Traditional approaches rely on trophectoderm (TE) biopsy, w…
View article: Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy Open
VCP-MSP muscle biopsies consistently show myopathic or mixed patterns with rimmed vacuoles and p62/VCP-positive inclusions, regardless of clinical phenotype, age, or progression. Some lack vacuoles, challenging diagnosis. Discrepancies bet…
View article: Are Neuromuscular Disorders That Cause Fatigue a Contraindication to Sports Participation? A Case Report and Narrative Review of the Literature
Are Neuromuscular Disorders That Cause Fatigue a Contraindication to Sports Participation? A Case Report and Narrative Review of the Literature Open
Engaging in sports, particularly at a competitive level, requires sustained muscle contractions before the onset of physical fatigue. Fatigue is highly prevalent in neuromuscular diseases, especially those affecting neuromuscular transmiss…
View article: Molecular Shadows of Per- and Polyfluoroalkyl Substances (PFASs): Unveiling the Impact of Perfluoroalkyl Substances on Ovarian Function, Polycystic Ovarian Syndrome (PCOS), and In Vitro Fertilization (IVF) Outcomes
Molecular Shadows of Per- and Polyfluoroalkyl Substances (PFASs): Unveiling the Impact of Perfluoroalkyl Substances on Ovarian Function, Polycystic Ovarian Syndrome (PCOS), and In Vitro Fertilization (IVF) Outcomes Open
Per- and polyfluoroalkyl substances (PFASs) comprise a diverse array of synthetic chemicals that resist environmental degradation. They are increasingly recognised as endocrine-disrupting compounds (EDCs). These chemicals, found in non-sti…
View article: Unlocking Implantation: The Role of Nitric Oxide, NO2-NO3, and eNOS in Endometrial Receptivity and IVF Success—A Systematic Review
Unlocking Implantation: The Role of Nitric Oxide, NO2-NO3, and eNOS in Endometrial Receptivity and IVF Success—A Systematic Review Open
Nitric oxide (NO) predominantly regulates endometrial receptivity, angiogenesis, immunological tolerance, and trophoblast invasion throughout the implantation period. Both insufficient and excessive nitric oxide production have been linked…
View article: Molecular Guardians of Oocyte Maturation: A Systematic Review on TUBB8, KIF11, and CKAP5 in IVF Outcomes
Molecular Guardians of Oocyte Maturation: A Systematic Review on TUBB8, KIF11, and CKAP5 in IVF Outcomes Open
The efficacy of in vitro fertilization (IVF) is significantly hindered by early embryonic developmental failure and oocyte maturation arrest. Recent findings in reproductive genetics have identified several oocyte-specific genes—TUBB8, KIF…
View article: Cracking the Code of Oocyte Quality: The Oxidative Stress Link to IVF Success
Cracking the Code of Oocyte Quality: The Oxidative Stress Link to IVF Success Open
The success of in vitro fertilization (IVF) and female reproductive capacity are significantly determined by oocyte quality. Increasing data highlights the significance of oxidative stress—a state of imbalance between reactive oxygen speci…
View article: Exosomal Communication Between Cumulus–Oocyte Complexes and Granulosa Cells: A New Molecular Axis for Oocyte Competence in Human-Assisted Reproduction
Exosomal Communication Between Cumulus–Oocyte Complexes and Granulosa Cells: A New Molecular Axis for Oocyte Competence in Human-Assisted Reproduction Open
Exosomal microRNAs (ex-miRs), encapsulated in extracellular vesicles (EVs), play a vital role in facilitating paracrine communication among granulosa cells (GCs), cumulus cells (CCs), and the oocyte inside follicular fluid (FF). These smal…
View article: Safety and Effectiveness of <scp>PCSK9</scp> Inhibitors and Inclisiran in Patients With Neuromuscular Disorders and Statin Intolerance
Safety and Effectiveness of <span>PCSK9</span> Inhibitors and Inclisiran in Patients With Neuromuscular Disorders and Statin Intolerance Open
Background and Objectives Limited data exist on the efficacy and safety of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors and inclisiran among patients with neuromuscular disorders and statin‐induced myotoxicity and/or he…
View article: Sprinters’ and Marathon Runners’ Performances Are Better Explained by Muscle Fibers’ Percentage Cross-Sectional Area than Any Other Parameter of Muscle Fiber Composition
Sprinters’ and Marathon Runners’ Performances Are Better Explained by Muscle Fibers’ Percentage Cross-Sectional Area than Any Other Parameter of Muscle Fiber Composition Open
The present study aimed to investigate the correlation between muscle fiber type variables and sprinting, jumping, strength, power and endurance performances in sprinters and marathon runners. Furthermore, the study explored which muscle f…
View article: Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression Open
Late-onset Pompe disease (LOPD) is a rare genetic disorder caused by the deficiency of acid alpha-glucosidase leading to progressive cellular dysfunction owing to the accumulation of glycogen in the lysosome. The mechanism of relentless mu…
View article: 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
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 Open
View article: Combined Central and Peripheral Demyelination (CCPD) Associated with MOG Antibodies: Report of Four New Cases and Narrative Review of the Literature
Combined Central and Peripheral Demyelination (CCPD) Associated with MOG Antibodies: Report of Four New Cases and Narrative Review of the Literature Open
Background/Objectives: Myelin oligodendrocyte glycoprotein (MOG) is exclusively expressed in the central nervous system (CNS) and is found on the outer surface of oligodendrocytes. Antibodies to MOG are associated with CNS demyelination, w…
View article: Muscle Ultrasound Echo Intensity and Fiber Type Composition in Young Females
Muscle Ultrasound Echo Intensity and Fiber Type Composition in Young Females Open
Ultrasonography has been extensively used to evaluate skeletal muscle morphology. The echo intensity, i.e., the mean pixel intensity of a specific region of interest in an ultrasound image, may vary among muscles and individuals with sever…
View article: 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07) Open
View article: Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis Open
Neurological Motor Disorders
View article: Neurophysiological Evaluation of Autonomic Dysfunction in Spinal Muscular Atrophy: A Case‐Control Study
Neurophysiological Evaluation of Autonomic Dysfunction in Spinal Muscular Atrophy: A Case‐Control Study Open
Introduction . Spinal muscular atrophy (SMA) is an autosomal recessive disorder causing lower motor neuron degeneration leading to weakness and muscle atrophy due to reduction of survival motor neuron (SMN) protein. Although SMA was consid…
View article: 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
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 Open
Background An increasing number of patients with Duchenne muscular dystrophy (DMD) now have access to improved standard of care and disease modifying treatments, which improve the clinical course of DMD and extend life expectancy beyond 30…
View article: Stiff-Leg Syndrome Associated with Autoimmune Retinopathy and Its Treatment with IVIg—A Case Report and Review of the Literature
Stiff-Leg Syndrome Associated with Autoimmune Retinopathy and Its Treatment with IVIg—A Case Report and Review of the Literature Open
Antibodies to glutamic acid decarboxylase (GAD) have been predominantly associated with stiff-person syndrome (SPS), which is often accompanied by organ-specific autoimmune diseases, such as late-onset type 1 diabetes. Autoimmune retinal p…
View article: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis Open
View article: Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy
Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy Open
Desmin is a class III intermediate filament protein highly expressed in cardiac, smooth and striated muscle. Autosomal dominant or recessive mutations in the desmin gene (DES) result in a variety of diseases, including cardiomyopathies and…
View article: Deep Characterization of a Greek Patient With a Desmin-Related Myofibrillar Myopathy and Cardiomyopathy
Deep Characterization of a Greek Patient With a Desmin-Related Myofibrillar Myopathy and Cardiomyopathy Open
Desmin is a class III intermediate filament highly expressed in cardiac, smooth and striated muscle Autosomal dominant or recessive mutations in the desmin gene (DES) result in a variety of diseases, including cardiomyopathies and myofibri…