9 results on '"Georgaki, Eleni"'
Search Results
2. Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece
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Hadjipanagi, Despina, primary, Papagregoriou, Gregory, additional, Koutsofti, Constantina, additional, Polydorou, Christiana, additional, Alivanis, Polichronis, additional, Andrikos, Aimilios, additional, Christodoulidou, Stalo, additional, Dardamanis, Manthos, additional, Diamantopoulos, Athanasios A., additional, Fountoglou, Anastasios, additional, Frangou, Eleni, additional, Georgaki, Eleni, additional, Giannikouris, Ioannis, additional, Gkinis, Velissarios, additional, Goudas, Pavlos C., additional, Kalaitzidis, Rigas G., additional, Kaperonis, Nikolaos, additional, Koutroumpas, Georgios, additional, Makrydimas, George, additional, Myserlis, Grigorios, additional, Mitsioni, Andromachi, additional, Paliouras, Christos, additional, Papachristou, Fotios, additional, Papadopoulou, Dorothea, additional, Papagalanis, Nikolaos, additional, Papagianni, Aikaterini, additional, Perysinaki, Garyfalia, additional, Siomou, Ekaterini, additional, Sombolos, Konstantinos, additional, Tzanakis, Ioannis, additional, Vergoulas, Georgios V., additional, Printza, Nicoletta, additional, and Deltas, Constantinos, additional
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- 2022
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3. NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome
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Voskarides, Konstantinos, Makariou, Christiana, Papagregoriou, Gregory, Stergiou, Nicolaos, Printza, Nicoletta, Alexopoulos, Efstathios, Elia, Avraam, Papachristou, Fotis, Pierides, Alkis, Georgaki, Eleni, and Deltas, Constantinos
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- 2008
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4. The Changing Nature of Work and Worker in the Digital Era
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Georgaki, Eleni
- Subjects
workforce ,Teknik och teknologier ,technology ,digital transformation ,Engineering and Technology ,future of work ,strategy ,Systemvetenskap, informationssystem och informatik ,information ,Information Systems - Abstract
This thesis aims to investigate the major consequences Information and Technology have caused to Work since the relationship among these factors remains poorly understood. Artificial Intelligence (AI), enabled by Machine Learning (ML) and Big Data have entered dynamically the workplaces. The digital transformation of modern organizations is of strategic importance and inevitably shapes the future of work as we know it impacting on various dimensions, such as deskilling, emergence of new skills, new forms of organizing and strategizing, such as crowdsourcing. The research involves the use of qualitative methods: the data collection includes interviews data, as well as document analysis. The data analysis explores the research question.
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- 2019
5. X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5
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Demosthenous, Panayiota, Voskarides, Konstantinos, Stylianou, Konstantinos G., Hadjigavriel, Michalis, Arsali, Maria, Patsias, Charalambos, Georgaki, Eleni, Zirogiannis, P., Stavrou, Christoforos V., Daphnis, Eugenios K., Pierides, Alkis M., Constantinou-Deltas, Constantinos D., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
- Subjects
Male ,collagen ,frameshift mutation ,Nephritis, Hereditary ,medicine.disease_cause ,urologic and male genital diseases ,Triple helix natural interruptions ,COL4A5 gene mutations ,Missense mutation ,gene mutation ,Microhematuria ,Frameshift Mutation ,Genetics (clinical) ,Mutation ,clinical article ,Greece ,adult ,article ,phenotypic variation ,Middle Aged ,chronic kidney failure ,female genital diseases and pregnancy complications ,Phenotype ,female ,priority journal ,Codon, Nonsense ,Female ,Adult ,Collagen Type IV ,medicine.medical_specialty ,Adolescent ,phenotype ,Nonsense mutation ,Mutation, Missense ,Biology ,Frameshift mutation ,Nephropathy ,male ,Internal medicine ,Genetics ,medicine ,Humans ,inheritance ,human ,Alport syndrome ,ESRD ,Genetic Association Studies ,TBMN ,Alport Syndrome-ATS ,Genetic heterogeneity ,missense mutation ,hearing impairment ,medicine.disease ,medicine.icd_9_cm_classification ,basement membrane ,kidney failure ,cyclosporin ,hematuria ,FSGS ,Endocrinology ,adolescent ,Immunology ,Cyprus ,gene expression ,Kidney Failure, Chronic - Abstract
The X-linked Alport syndrome (ATS) is caused by mutations in COL4A5 and exhibits a widely variable expression. Usually ATS is heralded with continuous microhematuria which rapidly progresses to proteinuria, hypertension and chronic or end-stage renal disease (ESRD) by adolescence, frequently accompanied by sensorineural deafness and ocular complications. Milder forms of ATS also exist. We studied 42 patients (19M, 23F) of nine Hellenic families suspected clinically of X-linked ATS who presented with marked phenotypic heterogeneity. We identified mutations in COL4A5 in six families. Two males with nonsense mutation E228X reached ESRD by ages 14 and 18. Frameshift mutation 2946delT followed the same course with early onset renal involvement and deafness. However, two males with the milder missense mutation G624D, reached ESRD after 39 years and one patient showed thin basement membrane nephropathy (TBMN). Another 5/8 affected males with missense mutation P628L also developed ESRD between 30 and 57 years, while three exhibit only mild chronic renal failure (CRF). The data support previous findings that certain mutations are associated with milder phenotypes and confirm that mutation G624D may be expressed as TBMN with familial hematuria. Similar conclusions apply for missense mutation P628L. Interestingly, mutations G624D and P628L are near the 12th natural interruption of COL4A5 triple helical domain, which may explain the milder phenotype. © 2011 John Wiley & Sons A/S. 81 240 248
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- 2012
6. Founder mutations in the ATP6V1B1 geneexplain most cypriot cases of distal renal tubular acidosis: First prenatal diagnosis
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Elia, Avraam, Voskarides, Konstantinos, Demosthenous, Panayiota, Michalopoulou, A., Malliarou, M. -A, Georgaki, Eleni, Athanasiou, Yiannis, Patsias, Charalambos, Pierides, Alkis M., Constantinou-Deltas, Constantinos D., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
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polymerase chain reaction ,genotype phenotype correlation ,kidney calcification ,Prenatal diagnosis ,preschool child ,Pregnancy ,kidney tubule acidosis ,Mutation dating ,guanine ,genetics ,cysteine ,restriction fragment length polymorphism ,child ,clinical article ,Greece ,adult ,article ,Acidosis, Renal Tubular ,perception deafness ,Founder Effect ,atp6v1b1 gene ,Sensorineural hearing loss ,V-ATPase subunit B1 ,female ,priority journal ,Child, Preschool ,citrate potassium plus citrate sodium ,Vacuolar Proton-Translocating ATPases ,DNA sequence ,Founder mutations ,Young Adult ,male ,hypokalemia ,Humans ,heterozygosity ,human ,gene ,citrate sodium ,disease association ,Infant ,DNA ,school child ,Distal renal tubular acidosis ,threonine ,Pregnancy Complications ,Hellenic population ,Cyprus ,rhabdomyolysis ,founder mutation ,mutation - Abstract
Aims: To investigate clinically and genetically all the distal renal tubular acidosis (dRTA) cases in Cyprus, to study one more family from Greece and to perform the first dRTA prenatal diagnosis. We also tried to find any association with sensorineural hearing loss (SNHL) onset and particular mutations. Methods: Nine dRTA families from Cyprus and one from Greece were analyzed for mutations in ATP6V1B1 gene by DNA resequencing and PCR-RFLPs. Clinical diagnosis was performed by standard criteria. Prenatal diagnosis was performed for one Cypriot family. Results: Results show that 7/9 dRTA cases in Cyprus are caused by 229+1G>T and R157C founder mutations in ATP6V1B1 gene. 229+1G>T mutation was estimated to be older than 400 years. No genotype- phenotype correlation was found with SNHL. A known (L81P) and a novel mutation (912delT) were found in the Greek family. Prenatal diagnosis was performed for one Cypriot family, after parents' demand, showing that the embryo was a heterozygous carrier. Conclusion: Existence of only two ATP6V1B1 mutations in the Cypriot population is a diagnostic advantage. The age of onset of SNHL varies in our patients and probably is not related to ATP6V1B1 genotypes. Effective therapy for most of the syndrome symptoms is not satisfactory for some parents who choose prenatal diagnosis to ensure their child's health. Copyright © 2010 S. Karger AG, Basel. 117 c206 c212 Cited By :6
- Published
- 2011
7. Founder Mutations in the ATP6V1B1 GeneExplain Most Cypriot Cases of Distal Renal Tubular Acidosis: First Prenatal Diagnosis
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Elia, Avraam, primary, Voskarides, Konstantinos, additional, Demosthenous, Panayiota, additional, Michalopoulou, Aikaterini, additional, Malliarou, Maria-Adamantia, additional, Georgaki, Eleni, additional, Athanasiou, Yiannis, additional, Patsias, Charalambos, additional, Pierides, Alkis, additional, and Deltas, Constantinos, additional
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- 2011
- Full Text
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8. Gastrointestinal Metastases From Lobular Breast Carcinoma: A Literature Review.
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Kioleoglou Z, Georgaki E, Koufopoulos N, Kostek O, Volakakis N, Dimitriadou A, and Kokkali S
- Abstract
Invasive lobular carcinoma (ILC) represents a rare subtype of breast carcinoma, originating from the lobule. Unlike ductal carcinoma, ILC does not express E-cadherin and thus can metastasize to uncommon sites. We aimed to investigate the clinicopathological characteristics of the rare subgroup of ILC patients with gastrointestinal (GI) metastases. A PubMed search was undertaken using the terms "Lobular Breast Carcinoma" AND "Gastrointestinal Metastasis." We identified 169 cases, with metachronous GI metastatic disease being approximately twice as common as synchronous GI metastases. The median age at initial diagnosis was 56.7 years (24-88). The majority of patients were hormonal receptor-positive and only a small minority was HER2-positive. The appearance of a gastrointestinal lesion was often the mode of revelation of ILC. Differential diagnosis from primary gastrointestinal cancer is sometimes challenging, especially in the case of signet-ring cell carcinoma. The median time from breast cancer diagnosis to GI metastases was 6.5 years (0-33). Most common metastatic sites include the stomach, colon, and rectum, in order of decreasing frequency, whereas metastases were found in every part of the digestive tract. In conclusion, metastases of ILC can arise in the gastrointestinal tract and they should be managed similarly to metastatic breast cancer., Competing Interests: Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Kioleoglou et al.)
- Published
- 2024
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9. Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.
- Author
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Elia A, Voskarides K, Demosthenous P, Michalopoulou A, Malliarou MA, Georgaki E, Athanasiou Y, Patsias C, Pierides A, and Deltas C
- Subjects
- Acidosis, Renal Tubular diagnosis, Acidosis, Renal Tubular epidemiology, Adult, Child, Child, Preschool, Cyprus epidemiology, Female, Humans, Infant, Male, Pregnancy, Pregnancy Complications diagnosis, Young Adult, Acidosis, Renal Tubular genetics, Founder Effect, Mutation genetics, Pregnancy Complications genetics, Prenatal Diagnosis methods, Vacuolar Proton-Translocating ATPases genetics
- Abstract
Aims: To investigate clinically and genetically all the distal renal tubular acidosis (dRTA) cases in Cyprus, to study one more family from Greece and to perform the first dRTA prenatal diagnosis. We also tried to find any association with sensorineural hearing loss (SNHL) onset and particular mutations., Methods: Nine dRTA families from Cyprus and one from Greece were analyzed for mutations in ATP6V1B1 gene by DNA resequencing and PCR-RFLPs. Clinical diagnosis was performed by standard criteria. Prenatal diagnosis was performed for one Cypriot family., Results: Results show that 7/9 dRTA cases in Cyprus are caused by 229+1G>T and R157C founder mutations in ATP6V1B1 gene. 229+1G>T mutation was estimated to be older than 400 years. No genotype- phenotype correlation was found with SNHL. A known (L81P) and a novel mutation (912delT) were found in the Greek family. Prenatal diagnosis was performed for one Cypriot family, after parents' demand, showing that the embryo was a heterozygous carrier., Conclusion: Existence of only two ATP6V1B1 mutations in the Cypriot population is a diagnostic advantage. The age of onset of SNHL varies in our patients and probably is not related to ATP6V1B1 genotypes. Effective therapy for most of the syndrome symptoms is not satisfactory for some parents who choose prenatal diagnosis to ensure their child's health., (Copyright © 2010 S. Karger AG, Basel.)
- Published
- 2011
- Full Text
- View/download PDF
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