Soteroula Christou
YOU?
Author Swipe
View article: Ethanol and Cyanide: A Case Report on Toxic and Nutritional Optic Neuropathy Associated With Alcohol and Tobacco
Ethanol and Cyanide: A Case Report on Toxic and Nutritional Optic Neuropathy Associated With Alcohol and Tobacco Open
View article: The Role of Exenatide, a Glucagon-Like Peptide-1 (GLP-1) Receptor Agonist, in Idiopathic Intracranial Hypertension and Polycystic Ovary Syndrome: A Case Report
The Role of Exenatide, a Glucagon-Like Peptide-1 (GLP-1) Receptor Agonist, in Idiopathic Intracranial Hypertension and Polycystic Ovary Syndrome: A Case Report Open
Idiopathic intracranial hypertension (IIH) and polycystic ovary syndrome (PCOS) are strongly associated with obesity in women of reproductive age. Glucagon-like peptide-1 receptor agonists (GLP-1 RAs) have been extensively reported to faci…
View article: Evaluation of Five Plasma miRNAs as Biomarkers for Minimally Invasive Staging of Liver Fibrosis in β-Thalassaemia Patients
Evaluation of Five Plasma miRNAs as Biomarkers for Minimally Invasive Staging of Liver Fibrosis in β-Thalassaemia Patients Open
Iron overload-driven liver fibrosis is a major concern in β-thalassaemia patients, but non-invasive or minimally invasive biomarkers for fibrosis staging remain limited. This study evaluated five plasma microRNAs (let-7a, miR-21, miR-29a, …
View article: COVID- 19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet
COVID- 19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet Open
View article: Isolated Spherophakia and Phacodonesis in a Young Child With Short Stature: A Case Report
Isolated Spherophakia and Phacodonesis in a Young Child With Short Stature: A Case Report Open
View article: Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing Open
Non-invasive prenatal testing (NIPT) has been widely adopted for the screening of chromosomal abnormalities; however, its adoption for monogenic disorders, such as β-thalassaemia, has proven challenging. Haemoglobinopathies are the most co…
View article: COVID-19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet
COVID-19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet Open
Background Despite several publications covering patients from multiple centers, no international registry covered all patients with red blood cell diseases (RBCD) affected by COVID-19. The ERN-EuroBloodNet's registry provided real-time re…
View article: Context base editing for splice correction of IVSI-110 β-thalassemia
Context base editing for splice correction of IVSI-110 β-thalassemia Open
View article: Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia
Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia Open
The +33 C>G variant [NM_000518.5(HBB):c.-18C>G] in the 5′ untranslated region (UTR) of the β-globin gene is described in the literature as both mild and silent, while it causes a phenotype of thalassemia intermedia in the presence of a sev…
View article: Evaluation of Mono- and Bi-Functional GLOBE-Based Vectors for Therapy of β-Thalassemia by HBBAS3 Gene Addition and Mutation-Specific RNA Interference
Evaluation of Mono- and Bi-Functional GLOBE-Based Vectors for Therapy of β-Thalassemia by HBBAS3 Gene Addition and Mutation-Specific RNA Interference Open
Therapy via the gene addition of the anti-sickling βAS3-globin transgene is potentially curative for all β-hemoglobinopathies and therefore of particular clinical and commercial interest. This study investigates GLOBE-based lentiviral vect…
View article: A multicenter ICET-A study on age at menarche and menstrual cycles in patients with transfusion-dependent thalassemia (TDT) who started early chelation therapy with different chelating agents
A multicenter ICET-A study on age at menarche and menstrual cycles in patients with transfusion-dependent thalassemia (TDT) who started early chelation therapy with different chelating agents Open
Objective: To evaluate the age at menarche and menstrual characteristics in patients with transfusion-dependent thalassemia (TDT) who started early chelation therapy (≤ 3 years) with a variety of chelating agents. Design: A retrospective m…
View article: P1427: RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM (RADEEP): DISTRIBUTION OF PATIENTS AFFECTED BY RADS IN EUROPE
P1427: RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM (RADEEP): DISTRIBUTION OF PATIENTS AFFECTED BY RADS IN EUROPE Open
Topic: 26. Sickle cell disease Background: Due to complications of the disease but also the treatment, rare anaemia disorders (RADs), over time, become multi-organ disorders, requiring the involvement of several medical specialties. This c…
View article: High-efficiency editing in hematopoietic stem cells and the HUDEP-2 cell line based on in vitro mRNA synthesis
High-efficiency editing in hematopoietic stem cells and the HUDEP-2 cell line based on in vitro mRNA synthesis Open
Introduction: Genome editing tools, such as CRISPR/Cas, TALE nucleases and, more recently, double-strand-break-independent editors, have been successfully used for gene therapy and reverse genetics. Among various challenges in the field, t…
View article: The Outcomes of Patients with Haemoglobin Disorders in Cyprus: A Joined Report of the Thalassaemia International Federation and the Nicosia and Paphos Thalassaemia Centres (State Health Services Organisation)
The Outcomes of Patients with Haemoglobin Disorders in Cyprus: A Joined Report of the Thalassaemia International Federation and the Nicosia and Paphos Thalassaemia Centres (State Health Services Organisation) Open
Haemoglobinopathies, including thalassaemias and sickle-cell syndromes, are demanding, lifelong conditions that pose a significant burden to patients, families, and healthcare systems. Despite the therapeutic advances and the resulting imp…
View article: ERN-EuroBloodNet European Registry of Patients Affected by Red Blood Cell Disorders and COVID-19
ERN-EuroBloodNet European Registry of Patients Affected by Red Blood Cell Disorders and COVID-19 Open
PV, NR and MMP contributed equally Introduction Patients with red blood cell disorders (RBCD), chronic life threating multisystemic disorders in their severe forms, are likely to be at increased risk of complications from SARS-Cov-2 (Covid…
View article: A comprehensive update of ICET-A Network on COVID-19 in thalassemias: what we know and where we stand.
A comprehensive update of ICET-A Network on COVID-19 in thalassemias: what we know and where we stand. Open
A review of the literature on COVID-19 pandemic in patients with thalassemias is presented. Globally, the prevalence of COVID-19 among β-thalassemia patients seems to be lower than in general population; associated co-morbidities aggravate…
View article: Sex-specific transcriptional profiles identified in β-thalassemia patients
Sex-specific transcriptional profiles identified in β-thalassemia patients Open
β-thalassemia comprises a group of heterogeneous autosomal recessive hereditary anemias characterized by the reduction or absence of β-globin chain synthesis, and it is a highly prevalent disease affecting 1.5% of the global population. Th…
View article: Effect of HBB genotype on survival in a cohort of transfusion-dependent thalassemia patients in Cyprus
Effect of HBB genotype on survival in a cohort of transfusion-dependent thalassemia patients in Cyprus Open
Initiation of regular transfusion in transfusion-dependent thalassemia (TDT) is based on the assessment of clinical phenotype. Pathogenic HBB variants causing β-thalassemia are important determinants of phenotype and could be used to aid d…
View article: 2'-O-methoxyethyl splice-switching oligos correct splicing from IVS2-745 β-thalassemia patient cells restoring HbA production and chain rebalance
2'-O-methoxyethyl splice-switching oligos correct splicing from IVS2-745 β-thalassemia patient cells restoring HbA production and chain rebalance Open
β-thalassemia is a disorder caused by altered hemoglobin protein synthesis and affects individuals worldwide. Severe forms of the disease, left untreated, can result in death before the age of 3 years (1). The standard of care consists of …
View article: The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements
The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements Open
The common IVSI-110 (G>A) β-thalassemia mutation is a paradigm for intronic disease-causing mutations and their functional repair by non-homologous end joining-mediated disruption. Such mutation-specific repair by disruption of aberrant re…
View article: Marital status and paternity in patients with Transfusion- Dependent Thalassemia (TDT) and Non Transfusion-Dependent Thalassemia (NTDT): an ICET - A survey in different countries.
Marital status and paternity in patients with Transfusion- Dependent Thalassemia (TDT) and Non Transfusion-Dependent Thalassemia (NTDT): an ICET - A survey in different countries. Open
Our study provides detailed information in a novel area where there are few contemporary data. Understanding the aspects of male reproductive health is important for physicians involved in the care of men with thalassemias to convey the me…
View article: A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β‐thalassemia major
A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β‐thalassemia major Open
We describe the identification of a novel missense mutation in the second zinc finger of KLF1 in two siblings who, based on their genotype, are predicted to suffer from beta thalassemia major but are, in fact, transfusion-free and in good …
View article: An ICET-A survey on occult and emerging endocrine complications in patients with β-thalassemia major: Conclusions and recommendations.
An ICET-A survey on occult and emerging endocrine complications in patients with β-thalassemia major: Conclusions and recommendations. Open
In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications, such as: central hypothyroidism (CH), thyroid cancer, latent hypocortisolism, and growth hormone deficiency (GHD) have emerged and been repo…
View article: Evidence for Three Distinct Classes of Phenotype Severity in Beta-Thalassaemia
Evidence for Three Distinct Classes of Phenotype Severity in Beta-Thalassaemia Open
View article: An ICET- A survey on Hypoparathyroidism in Patients with Thalassaemia Major and Intermedia: A preliminary report.
An ICET- A survey on Hypoparathyroidism in Patients with Thalassaemia Major and Intermedia: A preliminary report. Open
Hypoparathyroidism (HPT) is a rare disease with leading symptoms of hypocalcemia, associated with high serum phosphorus levels and absent or inappropriately low levels of parathyroid hormone (PTH). In patients with thalassemias it is mainl…
View article: The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study Open