Makarios Eleftheriades
Biographic Data
| ID | 8252513 |
|---|---|
| NAME | Makarios Eleftheriades |
| GIVEN NAMES | Makarios |
| FAMILY NAME | Eleftheriades |
| SIGNATURE | ELEFTHERIADES M |
| AFFILIATIONS | National and Kapodistrian University of Athens |
| ORCID | 0000-0003-4967-2505 |
| VERIFIED | Yes |
| TOTAL WORKS | 5 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 5 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2022 |
| LATEST PUBLICATION YEAR | 2022 |
| H-INDEX | 0 |
Prenatal Ultrasound Screening and Women’s Expectations
Background: Prenatal screening offers crucial information about the pregnancy, although sometimes brings forth ethical issues and potentially difficult decisions for pregnant women. Ultrasound screening during pregnancy is both of particular importance and a great challenge. Objective: The objective of this study is to assess women’s knowledge and expectations regarding prenatal ultrasound screening in Greece. Methods: The study was conducted bet…
Familial Aggregation of a Novel Missense Variant of COL2A1 Gene Associated with Short Extremities
We present two cases of family members (first cousins) with short extremities caused by a novel variant of COL2A1 gene (NM_001844.5). Case 1 description: A 29-year-old woman presented in her first pregnancy for a second trimester anomaly scan at 23 weeks of gestation. Fetal long bones were measured below the third centile for gestational age. Follow-up scans revealed fetal long bone growth deceleration. Initial genetic work-up was negative and th…
Conjoined Twins Complicating a Dichorionic Triplet Pregnancy after Intracytoplasmic Sperm Injection
Conjoined twins represent a rare type of monoamniotic twins. Ultrasound assessment during the first trimester can facilitate the diagnosis, however further assessment by colour Doppler studies, 3D imaging, fetal echocardiography and fetal magnetic resonance imaging (MRI) is usually required in order to determine the specific fetal abnormalities and to guide appropriate pregnancy management. This case report presents a rare case of conjoined twins…
Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS)
Our findings portray an association between the new MCPH1 mutation (c.348del) and the clinical features of autosomal recessive primary microcephaly (MCPH), contributing to a broader spectrum related to these pathologies. To our knowledge, this is the first prenatal diagnosis of MCPH due to a novel MCPH1 mutation
Associations between Maternal and Offspring Hair Cortisol Concentrations and Child Behavioral Symptoms in Mother-Child Pairs with Perinatal Mental Disorders
Maternal perinatal mental disorders (PMD) are associated with developmental and behavioral problems in children, probably mediated by the programming of the hypothalamic-pituitary-adrenal (HPA) axis. Increased cortisol concentrations during the antenatal and perinatal periods have been related to long-term effects on children's behavior and stress response. We aimed to investigate the association of hair cortisol concentrations (HCC) between moth…
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Prenatal Ultrasound Screening and Women’s Expectations
Background: Prenatal screening offers crucial information about the pregnancy, although sometimes brings forth ethical issues and potentially difficult decisions for pregnant women. Ultrasound screening during pregnancy is both of particular importance and a great challenge. Objective: The objective of this study is to assess women’s knowledge and expectations regarding prenatal ultrasound screening in Greece. Methods: The study was conducted bet…
Familial Aggregation of a Novel Missense Variant of COL2A1 Gene Associated with Short Extremities
We present two cases of family members (first cousins) with short extremities caused by a novel variant of COL2A1 gene (NM_001844.5). Case 1 description: A 29-year-old woman presented in her first pregnancy for a second trimester anomaly scan at 23 weeks of gestation. Fetal long bones were measured below the third centile for gestational age. Follow-up scans revealed fetal long bone growth deceleration. Initial genetic work-up was negative and th…
Conjoined Twins Complicating a Dichorionic Triplet Pregnancy after Intracytoplasmic Sperm Injection
Conjoined twins represent a rare type of monoamniotic twins. Ultrasound assessment during the first trimester can facilitate the diagnosis, however further assessment by colour Doppler studies, 3D imaging, fetal echocardiography and fetal magnetic resonance imaging (MRI) is usually required in order to determine the specific fetal abnormalities and to guide appropriate pregnancy management. This case report presents a rare case of conjoined twins…
Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS)
Our findings portray an association between the new MCPH1 mutation (c.348del) and the clinical features of autosomal recessive primary microcephaly (MCPH), contributing to a broader spectrum related to these pathologies. To our knowledge, this is the first prenatal diagnosis of MCPH due to a novel MCPH1 mutation
Associations between Maternal and Offspring Hair Cortisol Concentrations and Child Behavioral Symptoms in Mother-Child Pairs with Perinatal Mental Disorders
Maternal perinatal mental disorders (PMD) are associated with developmental and behavioral problems in children, probably mediated by the programming of the hypothalamic-pituitary-adrenal (HPA) axis. Increased cortisol concentrations during the antenatal and perinatal periods have been related to long-term effects on children's behavior and stress response. We aimed to investigate the association of hair cortisol concentrations (HCC) between moth…
Pregnancy (5 works) · Fetus (4 works) · Medicine (4 works) · Biology (3 works) · Obstetrics (3 works) · Prenatal diagnosis (3 works) · Gene (2 works) · Genetics (2 works) · Gynecology (2 works) · Mutation (2 works)