Panagiotis Christopoulos
Biographic Data
| ID | 8259695 |
|---|---|
| NAME | Panagiotis Christopoulos |
| GIVEN NAMES | Panagiotis |
| FAMILY NAME | Christopoulos |
| SIGNATURE | CHRISTOPOULOS P |
| AFFILIATIONS | National and Kapodistrian University of Athens |
| ORCID | 0000-0003-4112-8396 |
| VERIFIED | Yes |
| TOTAL WORKS | 4 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 4 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2022 |
| LATEST PUBLICATION YEAR | 2023 |
| H-INDEX | 0 |
Secondary Prevention of Diabetes Type 1 with Oral Calcitriol and Analogs, the PRECAL Study
Screening for Type 1 Diabetes (T1D, incidence 1:300) with T1D autoantibodies (T1Ab) at ages 2 and 6, while sensitive, lacks a preventive strategy. Cholecalciferol 2000 IU daily since birth reduced T1D by 80% at 1 year. T1D-associated T1Ab negativized within 0.6 years with oral calcitriol in 12 children. To further investigate secondary prevention of T1D with calcitriol and its less calcemic analog, paricalcitol, we initiated a prospective interve…
A Novel Variant in the TP53 Gene Causing Li–Fraumeni Syndrome
Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in the tumor protein p53 ( TP53 ) gene and elevated risk of a broad range of early-onset malignancies. Patients with LFS are at risk of a second and third primary tumor. A 15-month-old girl consulted for clitoromegaly and pubic hair. Adrenal ultrasound detected a large left adrenal tumor. Left total adrenalectomy confirmed a…
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…
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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…
Secondary Prevention of Diabetes Type 1 with Oral Calcitriol and Analogs, the PRECAL Study
Screening for Type 1 Diabetes (T1D, incidence 1:300) with T1D autoantibodies (T1Ab) at ages 2 and 6, while sensitive, lacks a preventive strategy. Cholecalciferol 2000 IU daily since birth reduced T1D by 80% at 1 year. T1D-associated T1Ab negativized within 0.6 years with oral calcitriol in 12 children. To further investigate secondary prevention of T1D with calcitriol and its less calcemic analog, paricalcitol, we initiated a prospective interve…
A Novel Variant in the TP53 Gene Causing Li–Fraumeni Syndrome
Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in the tumor protein p53 ( TP53 ) gene and elevated risk of a broad range of early-onset malignancies. Patients with LFS are at risk of a second and third primary tumor. A 15-month-old girl consulted for clitoromegaly and pubic hair. Adrenal ultrasound detected a large left adrenal tumor. Left total adrenalectomy confirmed a…
Medicine (4 works) · Biology (3 works) · Fetus (2 works) · Gene (2 works) · Genetics (2 works) · Internal Medicine (2 works) · Mutation (2 works) · Obstetrics (2 works) · Pregnancy (2 works) · Adrenocortical carcinoma (1 work)