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Eleni P. Kotanidou,Vasiliki-Rengina Tsinopoulou,Anastasios Serbis,Eleni Litou,Assimina GalliTsinopoulou 대한골대사학회 2021 대한골대사학회지 Vol.28 No.1
Pseudohypoparathyroidism type 1A (PHP1A) is a rare disease caused by molecular defects in the maternally-inherited allele of the guanine nucleotide-binding protein, α-stimulating (GNAS) gene. The GNAS gene encodes the stimulatory G-protein α-subunit that regulates production of the second messenger cyclic adenosine monophosphate. Heterozygous inactivating mutations in these specific loci are responsible for a spectrum of phenotypic characteristics of the disease, including clinical features of the Albright’s hereditary osteodystrophy, due to resistance to parathyroid hormone (PTH). We report a case of PHP1A and explore the underlying novel point mutation of the GNAS gene that leads to an atypical PHP1A phenotype. A male patient with a round face, short stature, and brachydactyly accompanied by normocalcaemia and mild PTH resistance consulted at our center. The GNAS encoding region from the patient and both of his parents were amplified and sequenced directly in a sample of peripheral blood leukocytes. A novel c.389A>G point mutation in exon 5 of the GNAS gene, resulting in a p.Tyr130Cys peptidic chain change of the Gsα protein, detected in the proband, in heterozygous state. Sequencing of the GNAS gene from his parents did not reveal the c.389A>G mutation, confirming a de novo proband genotype. The maternal origin of the affected GNAS allele, along with mild PTH resistance, confirmed the PHP1A diagnosis. PHP1A, caused by inactivating GNAS mutations, presents a range of complex clinical phenotypes. The novel c.389A>G GNAS mutation presented in this case expands the spectrum of known PHP1A molecular defects and describes the associated phenotype.
Occupational Dermatoses by Type of Work in Greece
Eleni Zorba,Antony Karpouzis,Alexandros Zorbas,Theodore Bazas,Sam Zorbas,Elias Alexopoulos,Ilias Zorbas,Konstantinos Kouskoukis,Theodoros Konstandinidis 한국산업안전보건공단 산업안전보건연구원 2013 Safety and health at work Vol.4 No.3
Background: To elucidate the relationship between seven occupational dermatoses (ODs) and 20 types of work in Greece. Methods: This was a prevalence epidemiologic study of certain ODs among 4,000 workers employed in 20 types of enterprise, in 104 companies, in 2006e2012, using data from company medical records, questionnaires, occupational medical, and special examinations. The c2 test was applied to reveal statistically significant relationships between types of enterprises and occurrence of ODs. Results: A high percentage (39.9%) of employees included in the study population suffered from ODs. The highest prevalence rates were noted among hairdressers (of contact dermatitis: 30%), cooks (of contact dermatitis: 29.5%), bitumen workers (of acne: 23.5%), car industry workers (of mechanical injury: 15%), construction workers (of contact urticaria: 29.5%), industrial cleaning workers (of chemical burns: 13%), and farmers (of malignant tumors: 5.5%).We observed several statistical significant correlations between ODs (acute and chronic contact dermatitis, urticaria, mechanical injury, acne, burns, skin cancer) and certain types of enterprises. There was no statistically significant correlation between gender and prevalence of ODs, except for dermatoses caused by mechanical injuries afflicting mainly men [c2 (1) ¼ 13.40, p < 0.001] and for chronic contact dermatitis [c2 (1) ¼ 5.53, p ¼ 0.019] afflicting mainly women. Conclusion: Prevalence of ODs is high in Greece, contrary to all official reports by the Greek National Institute of Health. There is a need to introduce a nationwide voluntary surveillance system for reporting ODs and to enhance skin protection measures at work.
The Emerging Clinical Utility of Neurosonology During COVID-19 Pandemic
Eleni Bakola,Odysseas Kargiotis,Klearchos Psychogios,Apostolos Safouris,Lina Palaiodimou,Maria-Ioanna Stefanou,Maria Chondrogianni,Theodoros Karapanayiotides,Konstantinos Vadikolias,Christos Krogias,S 대한신경초음파학회 2021 대한신경초음파학회지 (JNN) Vol.13 No.2
Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome coronavirus 2 infection. Over the last 2 years the virus has spread worldwide with enormous implications on the healthcare systems. COVID-19 patients suffer from mild upper-airway manifestations to pneumonia and severe acute respiratory distress syndrome and their hospitalizations are often prolonged. Neurological manifestations of the disease are common. Neurosonology (transcranial Doppler & cervical duplex ultrasound) is an easily repeatable diagnostic imaging modality that can be simply applied at the bedside of COVID-19 patients with cerebrovascular diseases or in critically ill patients in the intensive care unit. Neurosonology may provide hemodynamic assessment of cerebral circulation, quantitative evaluation of increased intracranial pressure and detection of micro-embolic signals in real-time. Consequently, it may assist substantially in the diagnosis, risk stratification and therapeutic approach of COVID-19 patients with or without cerebrovascular complications. In the present narrative review, we discuss the emerging clinical utility of neurosonology during COVID-19 pandemic and highlight the upgraded role of neurosonology resulting from the combination of the established applications coupled with the reduced risk of virus spreading during ultrasound evaluation compared to other imaging modalities including computed tomography and magnetic resonance imaging.
Foreign Investments and Institutional Convergence in South-eastern Europe
Eleni A. Kaditi 한국국제경제학회 2013 International Economic Journal Vol.27 No.1
Foreign investments are in the focus of most governments around the world. In order to be able to set a policy agenda that is successful in promoting FDI, it is necessary to understand the determinants of foreign investments. This paper examines whether, and to what extent, sound institutions and the degree of regulation deter or attract FDI flows in four economies of south-eastern Europe. In a dynamic panel analysis, a broad set of institutional and regulatory variables that may affect the decision of foreign investors to undertake investment projects in this region is examined, using firm-level data. Analysis shows that the quality of the institutional environment significantly influences foreign capital. Governments in this region should, therefore, focus primarily on creating an effective legal system, having relatively stable political and economic conditions.
Eleni N. Chatzi,Clemente Fuggini 국제구조공학회 2015 Smart Structures and Systems, An International Jou Vol.16 No.2
In recent years the monitoring of structural behavior through acquisition of vibrational data has become common practice. In addition, recent advances in sensor development have made the collection of diverse dynamic information feasible. Other than the commonly collected acceleration information, Global Position System (GPS) receivers and non-contact, optical techniques have also allowed for the synchronous collection of highly accurate displacement data. The fusion of this heterogeneous information is crucial for the successful monitoring and control of structural systems especially when aiming at real-time estimation. This task is not a straightforward one as measurements are inevitably corrupted with some percentage of noise, often leading to imprecise estimation. Quite commonly, the presence of noise in acceleration signals results in drifting estimates of displacement states, as a result of numerical integration. In this study, a new approach based on a time domain identification method, namely the Unscented Kalman Filter (UKF), is proposed for correcting the “drift effect” in displacement or rotation estimates in an online manner, i.e., on the fly as data is attained. The method relies on the introduction of artificial white noise (WN) observations into the filter equations, which is shown to achieve an online correction of the drift issue, thus yielding highly accurate motion data. The proposed approach is demonstrated for two cases; firstly, the illustrative example of a single degree of freedom linear oscillator is examined, where availability of acceleration measurements is exclusively assumed. Secondly, a field inspired implementation is presented for the torsional identification of a tall tower structure, where acceleration measurements are obtained at a high sampling rate and non-collocated GPS displacement measurements are assumed available at a lower sampling rate. A multi-rate Kalman Filter is incorporated into the analysis in order to successfully fuse data sampled at different rates.
Isolation and Quantification of Glycosaminoglycans from Human Hair Shaft
( Eleni Maniatopoulou ),( Stefanos Bonovas ),( Nikolaos Sitaras ) 대한피부과학회 2016 Annals of Dermatology Vol.28 No.5
Background: There is evidence that glycosaminoglycans (GAGs) are present in the hair shaft within the follicle but there are no studies regarding GAGs isolation and measurement in the human hair shaft over the scalp surface, it means, in the free hair shaft. Objective: The purpose of our research was to isolate and measure the total GAGs from human free hair shaft. Methods: Seventy-five healthy individuals participated in the study, 58 adults, men and women over the age of 50 and 17 children (aged 4∼9). GAGs in hair samples, received from the parietal and the occipital areas, were isolated with 4 M guanidine HCl and measured by the uronic acid-carbazole reaction assay. Results: GAGs concentration was significantly higher in the occipital area than in the parietal area, in all study groups. GAG levels from both areas were significantly higher in children than in adults. GAG levels were not associated with gender, hair color or type. Conclusion: We report the presence of GAGs in the human free hair shaft and the correlation of hair GAG levels with the scalp area and participants’ age. (Ann Dermatol 28(5) 533∼ 539, 2016)