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Article ; Online: The Genetic Basis of Hydrocephalus.

Kousi, Maria / Katsanis, Nicholas

2016 Volume 39, Page(s) 409–435

Abstract: Studies of syndromic hydrocephalus have led to the identification of >100 causative genes. Even though this work has illuminated numerous pathways associated with hydrocephalus, it has also highlighted the fact that the genetics underlying this phenotype ...

Abstract	Studies of syndromic hydrocephalus have led to the identification of >100 causative genes. Even though this work has illuminated numerous pathways associated with hydrocephalus, it has also highlighted the fact that the genetics underlying this phenotype are more complex than anticipated originally. Mendelian forms of hydrocephalus account for a small fraction of the genetic burden, with clear evidence of background-dependent effects of alleles on penetrance and expressivity of driver mutations in key developmental and homeostatic pathways. Here, we synthesize the currently implicated genes and inheritance paradigms underlying hydrocephalus, grouping causal loci into functional modules that affect discrete, albeit partially overlapping, cellular processes. These in turn have the potential to both inform pathomechanism and assist in the rational molecular classification of a clinically heterogeneous phenotype. Finally, we discuss conceptual methods that can lead to enhanced gene identification and dissection of disease basis, knowledge that will potentially form a foundation for the design of future therapeutics.
Language	English
Publishing date	2016-07-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	282459-0
ISSN	1545-4126 ; 0147-006X
ISSN (online)	1545-4126
ISSN	0147-006X
DOI	10.1146/annurev-neuro-070815-014023
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Article ; Online: Genetic modifiers and oligogenic inheritance.

Kousi, Maria / Katsanis, Nicholas

Cold Spring Harbor perspectives in medicine

2015 Volume 5, Issue 6

Abstract: Despite remarkable progress in the identification of mutations that drive genetic disorders, progress in understanding the effect of genetic background on the penetrance and expressivity of causal alleles has been modest, in part because of the ... ...

Abstract	Despite remarkable progress in the identification of mutations that drive genetic disorders, progress in understanding the effect of genetic background on the penetrance and expressivity of causal alleles has been modest, in part because of the methodological challenges in identifying genetic modifiers. Nonetheless, the progressive discovery of modifier alleles has improved both our interpretative ability and our analytical tools to dissect such phenomena. In this review, we analyze the genetic properties and behaviors of modifiers as derived from studies in patient populations and model organisms and we highlight conceptual and technological tools used to overcome some of the challenges inherent in modifier mapping and cloning. Finally, we discuss how the identification of these modifiers has facilitated the elucidation of biological pathways and holds the potential to improve the clinical predictive value of primary causal mutations and to develop novel drug targets.
MeSH term(s)	Alleles ; Animals ; Cloning, Molecular ; Forecasting ; Genes, Modifier/genetics ; Humans ; Mice ; Mice, Inbred Strains ; Models, Genetic ; Multifactorial Inheritance/genetics ; Mutation/genetics ; Penetrance ; Phenotype ; Retinal Degeneration/genetics
Language	English
Publishing date	2015-06-01
Publishing country	United States
Document type	Journal Article ; Review
ISSN	2157-1422
ISSN (online)	2157-1422
DOI	10.1101/cshperspect.a017145
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Article ; Online: Correction: Quantitative background parenchymal enhancement and fibro-glandular density at breast MRI: Association with BRCA status.

Goodburn, Rosie / Kousi, Evanthia / Sanders, Clarrissa / Macdonald, Alison / Scurr, Erica / Bunce, Catey / Khabra, Komel / Reddy, Mamatha / Wilkinson, Louise / O'Flynn, Elizabeth / Allen, Steven / Schmidt, Maria Angélica

European radiology

2023 Volume 33, Issue 9, Page(s) 6621

Language	English
Publishing date	2023-06-24
Publishing country	Germany
Document type	Published Erratum
ZDB-ID	1085366-2
ISSN	1432-1084 ; 0938-7994 ; 1613-3749
ISSN (online)	1432-1084
ISSN	0938-7994 ; 1613-3749
DOI	10.1007/s00330-023-09819-2
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Article ; Online: A multicenter study on the epidemiology of complicated parapneumonic effusion in the era of currently available pneumococcal conjugate vaccines.

Papachristidou, Smaragda / Lapea, Vasiliki / Charisi, Martha / Kourkouni, Eleni / Kousi, Dimitra / Xirogianni, Athanasia / Dedousi, Olga / Papaconstadopoulos, Irene / Eleftheriou, Eirini / Krepis, Panagiotis / Pasparaki, Sophia / Pantalos, Georgios / Doudoulakakis, Anastasios / Bozavoutoglou, Elisavet / Daskalaki, Maria / Kostaridou-Nikolopoulou, Stavroula / Tzanakaki, Georgina / Spoulou, Vana / Tsolia, Maria

Vaccine

2023 Volume 41, Issue 45, Page(s) 6727–6733

Abstract: Background: Parapneumonic effusion (PPE) is a common complication of pneumonia. Streptococcus pneumoniae is the most common cause of bacterial pneumonia. A reduction in pneumonia hospitalizations has been observed since the introduction of the 7-valent ... ...

Abstract	Background: Parapneumonic effusion (PPE) is a common complication of pneumonia. Streptococcus pneumoniae is the most common cause of bacterial pneumonia. A reduction in pneumonia hospitalizations has been observed since the introduction of the 7-valent pneumococcal conjugate vaccine (PCV7). Despite this apparent benefit, an increase in the incidence of PPE was recorded in some countries following PCV7 implementation. As the 13-valent pneumococcal conjugate vaccine (PCV13) was expected to provide a wider protection against PPE, the aim of the present study was to evaluate the impact of PCV13 introduction on the epidemiology of complicated parapneumonic effusion (c-PPE) among children in the Athens greater area. Methods: All cases of community-acquired pneumonia (CAP) with PPE requiring chest tube insertion (complicated PPE, c-PPE) hospitalized in the 3 public Children's hospitals in Athens between 01/01/2004 and 31/12/2019 were included in the study. Results: A total of 426 cases of c-PPE associated with pneumonia were recorded of which 198 were admitted during 2004-2010 (period A, prePCV13/PCV -7 introduction period) and 228 during 2011-2018 (period B, post - PCV13 period). A definite bacterial etiology was established in 44.4 % of all cases and of those 25.4 % were caused by S. pneumoniae. An increasing trend in c-PPE incidence was observed during period A; although, a significant decrease on c-PPE annual rates was observed during the period B (p = 0.011), a remarkable increase in serotype 3 cases was recorded. Conclusion: A decreasing time trend in c-PPE cases among children was shown after the introduction of PCV13 in our area. However, serotype 3 is nowadays a common cause of PPE. Hence, continuous surveillance is imperative in order to follow c-PPE epidemiology over time.
MeSH term(s)	Child ; Humans ; Infant ; Vaccines, Conjugate/therapeutic use ; Streptococcus pneumoniae ; Pneumococcal Vaccines ; Pneumonia, Bacterial ; Pleural Effusion/epidemiology ; Serogroup ; Incidence ; Pneumococcal Infections/prevention & control
Chemical Substances	Vaccines, Conjugate ; Pneumococcal Vaccines
Language	English
Publishing date	2023-10-06
Publishing country	Netherlands
Document type	Multicenter Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	605674-x
ISSN	1873-2518 ; 0264-410X
ISSN (online)	1873-2518
ISSN	0264-410X
DOI	10.1016/j.vaccine.2023.10.004
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Article ; Online: Quantitative background parenchymal enhancement and fibro-glandular density at breast MRI: Association with BRCA status.

European radiology

2023 Volume 33, Issue 9, Page(s) 6204–6212

Abstract: Objectives: To investigate whether MRI-based measurements of fibro-glandular tissue volume, breast density (MRBD), and background parenchymal enhancement (BPE) could be used to stratify two cohorts of healthy women: BRCA carriers and women at population ...

Abstract	Objectives: To investigate whether MRI-based measurements of fibro-glandular tissue volume, breast density (MRBD), and background parenchymal enhancement (BPE) could be used to stratify two cohorts of healthy women: BRCA carriers and women at population risk of breast cancer. Methods: Pre-menopausal women aged 40-50 years old were scanned at 3 T, employing a standard breast protocol including a DCE-MRI (35 and 30 participants in high- and low-risk groups, respectively). The dynamic range of the DCE protocol was characterised and both breasts were masked and segmented with minimal user input to produce measurements of fibro-glandular tissue volume, MRBD, and voxelwise BPE. Statistical tests were performed to determine inter- and intra-user repeatability, evaluate the symmetry between metrics derived from left and right breasts, and investigate MRBD and BPE differences between the high- and low-risk cohorts. Results: Intra- and inter-user reproducibility in estimates of fibro-glandular tissue volume, MRBD, and median BPE estimations were good, with coefficients of variation < 15%. Coefficients of variation between left and right breasts were also low (< 25%). There were no significant correlations between fibro-glandular tissue volume, MRBD, and BPE for either risk group. However, the high-risk group had higher BPE kurtosis, although linear regression analysis did not reveal significant associations between BPE kurtosis and breast cancer risk. Conclusions: This study found no significant differences or correlations in fibro-glandular tissue volume, MRBD, or BPE metrics between the two groups of women with different levels of breast cancer risk. However, the results support further investigation into the heterogeneity of parenchymal enhancement. Key points: • A semi-automated method enabled quantitative measurements of fibro-glandular tissue volume, breast density, and background parenchymal enhancement with minimal user intervention. • Background parenchymal enhancement was quantified over the entire parenchyma, segmented in pre-contrast images, thus avoiding region selection. • No significant differences and correlations in fibro-glandular tissue volume, breast density, and breast background parenchymal enhancement were found between two cohorts of women at high and low levels of breast cancer risk.
MeSH term(s)	Female ; Humans ; Adult ; Middle Aged ; Reproducibility of Results ; Breast/diagnostic imaging ; Breast Neoplasms/diagnostic imaging ; Breast Density ; Magnetic Resonance Imaging/methods ; Retrospective Studies
Language	English
Publishing date	2023-04-05
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1085366-2
ISSN	1432-1084 ; 0938-7994 ; 1613-3749
ISSN (online)	1432-1084
ISSN	0938-7994 ; 1613-3749
DOI	10.1007/s00330-023-09592-2
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Article ; Online: SARS-CoV-2 seroprevalence among children in Greece during Omicron variant period.

Dimopoulou, Dimitra / Sotiri, Despoina / Kousi, Dimitra / Loulou, Garyfallia / Raptaki, Kalliopi / Neofytou, Ariadni / Dasoula, Foteini / Tampouratzi, Maria / Koloi, Athina / Eleftheriou, Eirini / Vergadi, Eleni / Papadimitriou, Eleni / Zorbadaki, Irini / Mavridi, Artemis / Miliordos, Konstantinos / Steletou, Evangelia / Strempela, Maria / Fragkou, Paraskevi C / Spoulou, Vassiliki /

Michos, Athanasios / Gkentzi, Despoina / Papaevangelou, Vassiliki / Ladomenou, Fani / Grivea, Ioanna / Syrogiannopoulos, George / Galanakis, Emmanouil / Zaoutis, Theoklis / Tryfinopoulou, Kyriaki / Tsolia, Maria N

European journal of pediatrics

2024 Volume 183, Issue 5, Page(s) 2491–2499

Abstract: The Omicron variant is associated with increased transmissibility, but evidence about the impact of Omicron in seropositivity of children is limited. This study aims to evaluate SARS-CoV-2 seroprevalence in children during the different variants' ... ...

Abstract	The Omicron variant is associated with increased transmissibility, but evidence about the impact of Omicron in seropositivity of children is limited. This study aims to evaluate SARS-CoV-2 seroprevalence in children during the different variants' subperiods. A prospective multicenter seroprevalence study was conducted in 7 University public hospitals in Greece from November 2021 to August 2022 (3 subperiods: November 2021-February 2022, March 2022-May 2022, June 2022-August 2022). Children from different age groups, admitted to the hospital or examined in outpatient clinics for reasons other than COVID-19 were enrolled. Neutralizing antibodies (Nabs), anti-Spike (anti-S) and anti-nucleocapsid (anti-N) SARS-CoV-2 IgG in serum were evaluated. A total of 2127 children (males:57,2%; median age:4,8years) were enrolled. Anti-N IgG seropositivity increased from 17,8% in the first sub-period to 40,7% in the second sub-period and then decreased in the third sub-period (36,7%). Anti-S IgG seropositivity appeared to have an increasing trend over the study period, starting from 34,8% and reaching 80,7%. Children aged 1-4 years old have significantly higher anti-N IgG titers compared to children aged 0-1 years old (p < 0,001). Infants have significantly lower anti-S IgG titers compared to all other age groups (p < 0,001). Immunocompromised children and infants have the lowest seropositivity for NAbs.Conclusions During the Omicron period, seropositivity significantly increased, as a result of higher transmissibility. Neonates and infants have lower antibody titers compared to other age groups, while young children aged 1-4 years old present higher antibody titers, suggesting that this age group may mount a higher antibody response. Continuous surveillance seroprevalence studies are needed in children, in order to identify the true extent of SARS-CoV-2 and guide the planning of adequate public health measures.
MeSH term(s)	Humans ; COVID-19/epidemiology ; COVID-19/immunology ; Greece/epidemiology ; Seroepidemiologic Studies ; Child, Preschool ; SARS-CoV-2/immunology ; Male ; Female ; Child ; Prospective Studies ; Infant ; Antibodies, Viral/blood ; Adolescent ; Immunoglobulin G/blood ; Antibodies, Neutralizing/blood ; Infant, Newborn ; COVID-19 Serological Testing
Chemical Substances	Antibodies, Viral ; Immunoglobulin G ; Antibodies, Neutralizing
Language	English
Publishing date	2024-03-13
Publishing country	Germany
Document type	Multicenter Study ; Journal Article
ZDB-ID	194196-3
ISSN	1432-1076 ; 0340-6199 ; 0943-9676
ISSN (online)	1432-1076
ISSN	0340-6199 ; 0943-9676
DOI	10.1007/s00431-024-05486-7
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Article: Right atrial thrombus mimicking cardiac tumor in a neonate.

Samanidis, George / Kanakis, Meletios / Bobos, Dimitrios / Kousi, Theofili / Dimitropoulou, Maria / Karafotia, Afroditi / Sofianidou, Ioanne / Giannopoulos, Nicholas

Clinical case reports

2020 Volume 8, Issue 12, Page(s) 3642–3644

Abstract: Does the cardiac mass should be operated in neonates? When diagnosis of cardiac tumor or mass has been made, the surgical excision should not be delayed for prevention of life-treating complications. ...

Abstract	Does the cardiac mass should be operated in neonates? When diagnosis of cardiac tumor or mass has been made, the surgical excision should not be delayed for prevention of life-treating complications.
Language	English
Publishing date	2020-10-27
Publishing country	England
Document type	Journal Article
ZDB-ID	2740234-4
ISSN	2050-0904
ISSN	2050-0904
DOI	10.1002/ccr3.3396
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Article ; Online: CO 2 Hydrogenation to Methanol over La 2 O 3 -Promoted CuO/ZnO/Al 2 O 3 Catalysts

Marios Kourtelesis / Kalliopi Kousi / Dimitris I. Kondarides

Catalysts, Vol 10, Iss 2, p

A Kinetic and Mechanistic Study

2020 Volume 183

Abstract: The hydrogenation of CO 2 to methanol has been investigated over CuO/ZnO/Al 2 O 3 (CZA) catalysts, where a part of the Al 2 O 3 (0, 25, 50, 75, or 100%) was substituted by La 2 O 3 . Results of catalytic performance tests obtained at atmospheric pressure ...

Abstract	The hydrogenation of CO 2 to methanol has been investigated over CuO/ZnO/Al 2 O 3 (CZA) catalysts, where a part of the Al 2 O 3 (0, 25, 50, 75, or 100%) was substituted by La 2 O 3 . Results of catalytic performance tests obtained at atmospheric pressure showed that the addition of La 2 O 3 generally resulted in a decrease of CO 2 conversion and in an increase of methanol selectivity. Optimal results were obtained for the CZA-La50 catalyst, which exhibited a 30% higher yield of methanol, compared to the un-promoted sample. This was attributed to the relatively high specific surface area and porosity of this material, the creation of basic sites of moderate strength, which enhance adsorption of CO 2 and intermediates that favor hydrogenation steps, and the ability of the catalyst to maintain a large part of the copper in its metallic form under reaction conditions. The reaction mechanism was studied with the use of in situ infrared spectroscopy (DRIFTS). It was found that the reaction proceeded with the intermediate formation of surface formate and methoxy species and that both methanol and CO were mainly produced via a common formate intermediate species. The kinetic behavior of the best performing CZA-La50 catalyst was investigated in the temperature range 190−230 °C as a function of the partial pressures of H 2 (0.3−0.9 atm) and CO 2 (0.05−0.20 atm), and a kinetic model was developed, which described the measured reaction rates satisfactorily.
Keywords	co 2 hydrogenation ; cuo/zno/al 2 o 3 catalyst ; la 2 o 3 promoter ; drifts ; reaction mechanism ; kinetic model ; Chemical technology ; TP1-1185 ; Chemistry ; QD1-999
Subject code	290
Language	English
Publishing date	2020-02-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
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Article ; Online: An evaluation of systematic errors on marker-based registration of computed tomography and magnetic resonance images of the liver.

Woolcot, Thomas / Kousi, Evanthia / Wells, Emma / Aitken, Katharine / Taylor, Helen / Schmidt, Maria A

Physics and imaging in radiation oncology

2018 Volume 7, Page(s) 27–31

Abstract: We demonstrated a general method to evaluate systematic errors related to Magnetic Resonance (MR) imaging sequences in marker-based co-registration of MR and Computed Tomography (CT) images, and investigated the effect of MR image quality in the co- ... ...

Abstract	We demonstrated a general method to evaluate systematic errors related to Magnetic Resonance (MR) imaging sequences in marker-based co-registration of MR and Computed Tomography (CT) images, and investigated the effect of MR image quality in the co-registration process using clinical MR and CT protocols for stereotactic ablative body radiotherapy (SABR) planning of the liver. Small systematic errors (under 1.6 mm) were detected, unlikely to be a clinical risk to liver SABR. The least favourable marker configuration was found to be a co-planar arrangement parallel to the transaxial image plane.
Language	English
Publishing date	2018-09-06
Publishing country	Netherlands
Document type	Journal Article
ISSN	2405-6316
ISSN (online)	2405-6316
DOI	10.1016/j.phro.2018.08.001
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Article ; Online: Fractionation and leachability of Fe, Zn, Cu and Ni in the sludge from a sulphate-reducing bioreactor treating metal-bearing wastewater.

Kousi, Pavlina / Remoundaki, Emmanouella / Hatzikioseyian, Artin / Korkovelou, Vassiliki / Tsezos, Marios

Environmental science and pollution research international

2018 Volume 25, Issue 36, Page(s) 35883–35894

Abstract: This work presents and discusses experimental results on the characterisation and metal leaching potential of a biogenic, metal-rich sulphidic sludge, generated in a sulphate-reducing bioreactor, operated to treat acidic synthetic solutions bearing Fe, ... ...

Abstract	This work presents and discusses experimental results on the characterisation and metal leaching potential of a biogenic, metal-rich sulphidic sludge, generated in a sulphate-reducing bioreactor, operated to treat acidic synthetic solutions bearing Fe, Zn, Ni and Cu. The sustainability of the metal removal bioprocess strongly depends on the fate of the sludge. To propose appropriate management practices, a detailed characterisation of the sludge is necessary. The granulometry, chemical composition and mineralogy of the sludge were initially determined. The mobility of the metals was assessed via a modified Tessier experimental procedure. The leachability of the sludge metal content was determined via a standard compliance method (EN 12457-2) and experiments designed to evaluate the effect of pH and time on metal leaching from the sludge. The sludge metal content sums up to 69.5% dw, namely iron (14.8%), zinc (18.7%), nickel (17.7%) and copper (18.2%) and, based on the criteria set by European Union, the sludge is characterised as hazardous and inappropriate for landfilling without any pretreatment. The sludge consists mainly of very fine poorly crystalline aggregates of Fe, Zn, Cu and Ni sulphides. The fine grain size, the poorly crystalline structure and the oxidation of sulphide upon exposure to water/air render the high metal content of the sludge recoverable.
MeSH term(s)	Air ; Bioreactors ; Chemical Fractionation/methods ; Copper/analysis ; Iron/analysis ; Metals, Heavy/analysis ; Nickel/analysis ; Oxidation-Reduction ; Sewage/chemistry ; Sulfates/chemistry ; Sulfides/chemistry ; Sulfur Oxides/chemistry ; Waste Management/methods ; Waste Water ; Water ; Zinc/analysis
Chemical Substances	Metals, Heavy ; Sewage ; Sulfates ; Sulfides ; Sulfur Oxides ; Waste Water ; Water (059QF0KO0R) ; Copper (789U1901C5) ; Nickel (7OV03QG267) ; Iron (E1UOL152H7) ; Zinc (J41CSQ7QDS)
Language	English
Publishing date	2018-04-09
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1178791-0
ISSN	1614-7499 ; 0944-1344
ISSN (online)	1614-7499
ISSN	0944-1344
DOI	10.1007/s11356-018-1905-6
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