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Genetics of congenital hypothyroidism: Modern concepts

Pediatric Investigation 2022年第2期6卷 123-134页

作者： athanasia stoupa Dulanjalce Kariyawasam Michel Polak Aurore Carre Department of Paediatric Endocrinology Gynaecology and DiabetologyIle de France Regional Neonatal Screening Centre(CRDN)Necker Enfants-Malades University HospitalParisFrance Institut IMAGINE INSERM U1163ParisFrance Institut Cochin INSERM U1016ParisFrance Centre des maladies endocriniennes rares de la croissance et du dévelopement ParisFrance Universitéde Paris Cité ParisFrance

Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one of the most common preventable causes of intellectual disability in the world. CH may be due to developmental or functional thyroid defects (primary or peripheral CH) or be hypothalamic-pituitary in origin (central CH). In most cases, primary CH is caused by a developmental malformation of the gland (thyroid dysgenesis, TD) or by a defect in thyroid hormones synthesis (dyshormonogenesis, DH). TD represents about 65% of CH and a genetic cause is currently identified in fewer than 5% of patients. The remaining 35% are cases of DH and are explained with certainty at the molecular level in more than 50% of cases. The etiology of CH is mostly unknown and may include contributions from individual and environmental factors. In recent years, the detailed phenotypic description of patients, high-throughput sequencing technologies, and the use of animal models have made it possible to discover new genes involved in the development or function of the thyroid gland. This paper reviews all the genetic causes of CH. The modes by which CH is transmitted will also be discussed, including a new oligogenic model. CH is no longer simply a dominant disease for cases of CH due to TD and recessive for cases of CH due to DH, but a far more complex disorder.

关键词： Congenital hypothyroidism Development Genetic High-throughput sequencing Thyroid dysgenesis Dyshormonogenesis Oligogenism

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Transcranial direct current stimulation efficacy in trigeminal neuralgia

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World Journal of Clinical Cases 2024年第5期12卷 1036-1038页

作者： Theodoros Fasilis Stylianos Gatzonis Panayiotis Patrikelis Stefanos Korfias athanasia Alexoudi 1^(st) Department of Neurosurgery National and Kapodistrian University of AthensAthens 10676Greece Department of Neurology Neurological Institute of AthensAthens 10676Greece

Trigeminal neuralgia is a severe,disabling pain and its deafferentation remains a challenge for health *** direct current stimulation is a non-invasive stimulation technique which finds new utility in managing ***-fore,the introduction of alternative,non-invasive,safe,and effective methods should be considered in treating patients with trigeminal neuralgia unresponsive to conventional treatment.

关键词： Trigeminal neuralgia Patient-controlled intravenous analgesia Neuromodulation Transcranial direct current stimulation

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Is there a correlation between the changes in airway inflammation and the changes in respiratory mechanics after vaping in patients with asthma?

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World Journal of Methodology 2024年第2期14卷 127-133页

作者： Serafeim-Chrysovalantis Kotoulas Kalliopi Domvri Alexandros Tsantos Ioanna Papagiouvanni Anastasia Michailidou Dionisios G Spyratos Konstantinos Porpodis Ioanna Grigoriou Despina Papakosta athanasia Pataka Intensive Care Unit Hippokration General HospitalThessaloniki 54642Greece Pulmonary Department-Oncology Unit Aristotle University of ThessalonikiThessaloniki 57010Greece 2nd Department of Internal Medicine General Hospital of Thessaloniki‘’Ippokration’’Thessaloniki 54642Greece Fourth Department of Internal Medicine Aristotle University of ThessalonikiThessaloniki 54642ThessalonikiGreece 2nd Propaedeutic Department of Internal Medicine General Hospital of Thessaloniki“Ippokration”Thessaloniki 54642Greece Department of Pulmonary Aristotle University of ThessalonikiThessaloniki 57001Greece Respiratory Failure Clinic Papanikolaou General HospitalThessloniki 57001Greece Department of Respiratory Medicine Aristotle Univ ThessalonikiSch MedG Papanikolaou HospResp Failure UnitAristotle University of ThessalonikiThessaloniki 57001Greece

BACKGROUND Electronic cigarettes(ECs)have been promoted as alternatives to traditional *** investigate ECs’effects on respiratory system,especially in patients with respiratory *** We randomly selected 25 smokers with stable moderate asthma and matched them with 25 healthy *** were subjucted to pulmonary function tests(PFTs),impulse oscillometry(IOS),fraction exhaled Nitric Oxide(FeNO),exhaled breathe condensate(EBC)and biomarker measurements before and after vaping one nicotinecontaining *** The increase in FeNO 30 minutes after EC,reflecting airway inflammation,significantly correlated with increase of residual volume(RV),total lung capacity,respiratory impedance at 5 Hz(Z5Hz)and respiratory resistance at 5 and 20 Hz(R5Hz and R20Hz).No significant correlations were found between EBC biomarkers'changes and respiratory *** This is the first study demonstrating that the changes in airway inflammation caused by EC have direct effects in respiratory mechanics of asthmatic patients.

关键词： Asthma Electronic cigarette Airway inflammation Lung function Impulse oscillometry FeNO

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Effects of Chios mastic gum on cardiometabolic risk factors

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World Journal of Diabetes 2022年第11期13卷 921-925页

作者： athanasia K Papazafiropoulou The First Department of Internal Medicine and Diabetes Center Tzaneio General Hospital of PiraeusPiraeus 18536Greece

Chios mastic gum(CMG),the resin produced by the trunk of Pistachia lentiscus var Chia,has been used for culinary and medicinal purposes since *** the fact that Pistacia species are widely distributed throughout the Mediterranean basin and in the circum-Mediterranean regions,CMG is a distinctive resin of the mastic trees grown exclusively in the southern part of the island of *** has been used for centuries as a spice,a cosmetic,but its most important usage has been as a strong phytotherapeutic therapy,primarily for the management of gastrointestinal ***,there are studies demonstrating that CMG has hypolipidemic,cardioprotective and antidiabetic ***,the aim of the present review is to summarize the existing literature data regarding the potential beneficial effects of CMG on cardiometabolic risk factors.

关键词： Chios mastic gum Glucose Cardioprotection Low-density lipoproteincholesterol Triglycerides

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Role of dipeptidyl peptidase 4 inhibitors in the new era of antidiabetic treatment

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World Journal of Diabetes 2022年第2期13卷 85-96页

作者： Matilda Florentin Michael S Kostapanos athanasia K Papazafiropoulou Department of Internal Medicine School of MedicineUniversity of IoanninaIoannina 45221Greece Lipid Clinic Department of General MedicineCambridge University Hospitals NHS Foundation TrustAddenbrooke's HospitalCambridge CB20QQUnited Kingdom 1st Department of Internal Medicine and Diabetes Center Tzaneio General Hospital of PiraeusAthens 18536Greece

The last few years important changes have occurred in the field of diabetes *** priority in the therapy of patients with diabetes is not glycemic control per se rather an overall management of risk factors,while individualization of glycemic target is ***,regulatory authorities now require evidence of cardiovascular(CV)safety in order to approve new antidiabetic *** most novel drug classes,i.e.,sodium-glucose transporter 2 inhibitors(SGLT2-i)and some glucagon-like peptide-1 receptor agonists(GLP-1 RA),have been demonstrated to reduce major adverse CV events and,thus,have a prominent position in the therapeutic algorithm of *** this context,the role of previously used hypoglycemic agents,including dipeptidyl peptidase 4(DPP-4)inhibitors,has been ***-4 inhibitors have a favorable safety profile,do not cause hypoglycemia or weight gain and do not require dose ***,they can be administered in patients with chronic kidney disease after dose modification and elderly patients with ***,though,they have been undermined to a third line therapeutic choice as they have not been shown to reduce CV events as is the case with SGLT2-i and GLP-1 ***,DPP-4 inhibitors appear to have a place in the management of patients with diabetes as a safe class of oral glucose lowering agents with great experience in their use.

关键词： Cardiovascular safety Dipeptidyl peptidase 4 inhibitors Glucose lowering Hypoglycemia Therapeutic algorithm Weight gain

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Unveiling the biological role of sphingosine-1-phosphate receptor modulators in inflammatory bowel diseases

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World Journal of Gastroenterology 2023年第1期29卷 110-125页

作者： Evanthia Tourkochristou athanasia Mouzaki Christos Triantos Division of Gastroenterology Department of Internal MedicineMedical SchoolUniversity of PatrasPatras 26504Greece Division of Hematology Department of Internal MedicineMedical SchoolUniversity of PatrasPatras 26504Greece

Inflammatory bowel disease(IBD)is chronic inflammation of the gastrointestinal tract that has a high epidemiological prevalence *** increasing disease burden worldwide,lack of response to current biologic therapeutics,and treatment-related immunogenicity have led to major concerns regarding the clinical management of IBD patients and treatment *** disease pathogenesis and disease-related molecular mechanisms is the most important goal in developing new and effective ***-1-phosphate(S1P)receptor(S1PR)modulators form a class of oral small molecule drugs currently in clinical development for IBD have shown promising effects on disease improvement.S1P is a sphingosine-derived phospholipid that acts by binding to its receptor S1PR and is involved in the regulation of several biological processes including cell survival,differentiation,migration,proliferation,immune response,and lymphocyte trafficking.T lymphocytes play an important role in regulating inflammatory *** inflamed IBD tissue,an imbalance between T helper(Th)and regulatory T lymphocytes and Th cytokine levels was *** S1P/S1PR signaling axis and metabolism have been linked to inflammatory responses in IBD.S1P modulators targeting S1PRs and S1P metabolism have been developed and shown to regulate inflammatory responses by affecting lymphocyte trafficking,lymphocyte number,lymphocyte activity,cytokine production,and contributing to gut barrier function.

关键词： Inflammatory bowel disease Sphingosine-1-phosphate Intestinal inflammation T helper 1/T helper 17 Sphingosine 1 phosphate Modulators Immune responses

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Highly sensitive ozone and hydrogen sensors based on perovskite microcrystals directly grown on electrodes

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Journal of Materiomics 2022年第2期8卷 446-453页

作者： Aikaterini Argyrou Konstantinos Brintakis athanasia Kostopoulou Emmanouil Gagaoudakis Ioanna Demeridou Vassilios Binas George Kiriakidis Emmanuel Stratakis Foundation for Research and Technology Hellas(FORTH) Institute of Electronic Structure&Laser(IESL)P.O.Box 1385Heraklion 70013CreteGreece University of Crete Department of Chemistry71003 HeraklionCreteGreece University of Crete Department of Physics71003 HeraklionCreteGreece Crete Center for Quantum Complexity and Nanotechnology Department of PhysicsUniversity of Crete71003 HeraklionGreece

Highly-sensitive and stable ozone and hydrogen sensing elements were fabricated based on well-crystalline rounded cube-shaped CsPbBr 3 microcrystals,synthesized by a facile solution process per-formed under ambient *** is shown that such elements demonstrate enhanced room tem-perature gas sensing ability compared to the previously reported metal halide and oxide-based *** measurements performed on these sensing components revealed high sensitivity to ultra-low ozone and hydrogen concentrations,namely 4 ppb and 1 ppm respectively,as well as a remarkable repeatability,even after a few months of storage in ambient *** ozone and hydrogen sensors were self-activated,as they did not require the use of UV or heating external stimuli to operate,and exhibited fast detection and short restoration *** such attractive properties along with the simple fabrication process could provide an easy,efficient and low-cost technology for the realization of future gas sensing devices.

关键词： All-inorganic perovskite crystals Solution process Ozone sensing Hydrogen sensing High sensitivity Room-temperature sensor Perovskite sensors

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COVID-19 and liver injury: An ongoing challenge

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World Journal of Gastroenterology 2023年第2期29卷 257-271页

作者： Ioanna Papagiouvanni Serafeim-Chrysovalantis Kotoulas athanasia Pataka Dionisios G Spyratos Konstantinos Porpodis Afroditi K Boutou Georgios Papagiouvannis Ioanna Grigoriou Christos Vettas Ioannis Goulis Fourth Department of Internal Medicine Aristotle University of ThessalonikiThessaloniki 54642ThessalonikiGreece Intensive Care Unit Hippokration General HospitalThessaloniki 54642Greece Department of Respiratory Medicine G Papanikolaou HospitalResp Failure UnitAristotle University of ThessalonikiThessaloniki 57001Greece Pulmonary Department Aristotle University of ThessalonikiThessaloniki 57001Greece Pulmonary Department G Papanikolaou HospitalResp Failure UnitAristotle University of ThessalonikiThessaloniki 54642Greece Department of Pharmacy School of Health SciencesFrederick UniversityNicosia 1036Cyprus Respiratory Failure Clinic Papanikolaou General HospitalThessloniki 57001Greece Fourth Department of Internal Medicine Hippokration General HospitalThessaloniki 54642Greece

The new coronavirus severe acute respiratory syndrome coronavirus 2(SARSCoV-2)was identified in December 2019,in Wuhan,*** virus was rapidly spread worldwide,causing coronavirus disease 2019(COVID-19)*** COVID-19 is presented,usually,with typical respiratory symptoms(i.e.,dyspnea,cough)and fever,extrapulmonary manifestations are also *** injury is a common feature in patients with COVID-19 and ranges from mild and temporary elevation of liver enzymes to severe liver injury and,even,acute liver *** pathogenesis of liver damage is not clearly defined;multiple mechanisms contribute to liver disorder,including direct cytopathic viral effect,cytokine storm and immune-mediated hepatitis,hypoxic injury,and druginduced liver *** with underlying chronic liver disease(i.e.,cirrhosis,non-alcoholic fatty liver disease,alcohol-related liver disease,hepatocellular carcinoma,etc.)may have greater risk to develop both severe COVID-19 and further liver deterioration,and,as a consequence,certain issues should be considered during disease *** aim of this review is to present the prevalence,clinical manifestation and pathophysiological mechanisms of liver injury in patients with SARS-CoV-2 ***,we overview the association between chronic liver disease and SARS-CoV-2 infection and we briefly discuss the management of liver injury during COVID-19.

关键词： COVID-19 Liver injury Cytokine storm Hypoxic hepatitis Drug-induced liver injury Chronic liver disease

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Nucleic acid vaccines: A taboo broken and prospect for a hepatitis B virus cure

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World Journal of Gastroenterology 2021年第41期27卷 7005-7013页

作者： Efthymios P Tsounis athanasia Mouzaki Christos Triantos Division of Gastroenterology Department of Internal MedicineUniversity of PatrasPatras 26504Greece Division of Hematology Department of Internal MedicineUniversity of PatrasPatras 26504Greece

Although a prophylactic vaccine is available,hepatitis B virus(HBV)remains a major cause of liver-related morbidity and *** treatment options are improving clinical outcomes in chronic hepatitis B;however,true functional cure is currently the exception rather than the *** acid vaccines are among the emerging immunotherapies that aim to restore weakened immune function in chronically infected *** vaccines in particular have shown promising results in vivo by reducing viral replication,breaking immune tolerance in a sustained manner,or even decimating the intranuclear covalently closed circular DNA reservoir,the hallmark of HBV *** DNA vaccines encoding surface antigens administered by conventional injection elicit HBVspecific T cell responses in humans,initial clinical trials failed to demonstrate additional therapeutic benefit when administered with nucleos(t)ide *** an attempt to improve vaccine immunogenicity,several techniques have been used,including codon/promoter optimization,coadministration of cytokine adjuvants,plasmids engineered to express multiple HBV epitopes,or combinations with other *** vaccine delivery by electroporation is among the most efficient strategies to enhance the production of plasmid-derived antigens to stimulate a potent cellular and humoral anti-HBV *** results suggest that DNA vaccination via electroporation efficiently invigorates both arms of adaptive immunity and suppresses serum HBV *** contrast,the study of mRNA-based vaccines is limited to a few in vitro experiments in this *** studies are needed to clarify the prospects of nucleic acid vaccines for HBV cure.

关键词： Chronic hepatitis B Therapeutic vaccination Nucleic acid vaccines DNA vaccines Electroporation Immunotherapy

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Antidiabetic treatment on memory and spatial learning: From the pancreas to the neuron

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World Journal of Diabetes 2019年第3期10卷 169-180页

作者： Eleni Xourgia athanasia Papazafiropoulou Andreas Melidonis 1~(st) Department of Internal Medicine and Diabetes Center Tzaneio General Hospital of Piraeus

The detrimental effects of constant hyperglycemia on neural function have been quantitatively and qualitatively evaluated in the setting of diabetes mellitus. Some of the hallmark features of diabetic encephalopathy (DE) are impaired synaptic adaptation and diminished spatial learning capacity. Chronic and progressive cognitive dysfunction, perpetuated by several positive feedback mechanisms in diabetic subjects, facilitates the development of early-onset dementia and Alzheimer’s disease. Despite the numerous clinical manifestations of DE having been described in detail and their pathophysiological substrate having been elucidated in both type 1 and type 2 diabetes mellitus, an effective therapeutic approach is yet to be proposed. Therefore, the aim of this review is to summarize the growing body of evidence concerning the effect of current antidiabetic treatment options on diabetic and non-DE.

关键词： Memory Spatial learning Cognitive Neural remodeling Type 2 diabetes mellitus Antidiabetic drugs

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