47 research outputs found
A newborn with hereditary haemorrhagic telangiectasia and an unusually severe phenotype
No full textHereditary haemorrhagic telangiectasia (HHT), associated with arteriovenous malformations, is a genetic disease of the vascular system with a frequency of approx. 1:10,000. Genetic diagnosis serves to identify individuals at risk of developing the disease and is a useful tool for genetic counselling purposes. Questions under study: Here we report on a child presenting severe arteriovenous malformations leading to heart failure. Her mother and grandmother present fewer symptoms of hereditary haemorrhagic telangiectasia. In this study we identify the cause of HHT in the family. Methods: Clinical examination, PCR, DNA sequencing, quantitative PCR, Southern blot, x-ray, ultrasound, cardiac catheterisation and angiocardiography. Results: Initially the sequence variant in c.392C > T in the endoglin gene was detected in the grandmother, but not in other affected family members. Further analyses revealed a deletion of exon 1 of endoglin, segregating with the phenotype. Conclusions: This report points out the need for careful evaluation of molecular genetic findings, particularly in diseases with highly variable phenotype
A newborn with hereditary haemorrhagic telangiectasia and an unusually severe phenotype
No full textHereditary haemorrhagic telangiectasia (HHT), associated with arteriovenous malformations, is a genetic disease of the vascular system with a frequency of approx. 1:10,000. Genetic diagnosis serves to identify individuals at risk of developing the disease and is a useful tool for genetic counselling purposes. Questions under study: Here we report on a child presenting severe arteriovenous malformations leading to heart failure. Her mother and grandmother present fewer symptoms of hereditary haemorrhagic telangiectasia. In this study we identify the cause of HHT in the family. Methods: Clinical examination, PCR, DNA sequencing, quantitative PCR, Southern blot, x-ray, ultrasound, cardiac catheterisation and angiocardiography. Results: Initially the sequence variant in c.392C > T in the endoglin gene was detected in the grandmother, but not in other affected family members. Further analyses revealed a deletion of exon 1 of endoglin, segregating with the phenotype. Conclusions: This report points out the need for careful evaluation of molecular genetic findings, particularly in diseases with highly variable phenotype
Moleculargenetic characterization of mutations in the Endoglin and ACVRL1 genes in patients with Osler-Weber-Rendu Syndrome
No full textDer Morbus Osler-Rendu-Weber, auch als
hereditäre hämorrhagische Teleangiektasie (HHT) bekannt, ist eine
autosomal dominant vererbte Multiorganpathologie mit einer
Prävalenz von 1:10000 bis 1:5000 (Cottin et al. 2007) und ist
charakterisiert durch spontan auftretendes und rezidivierendes
Nasenbluten, mukokutane Teleangiektasien sowie durch viszerale
Läsionen, wie z.B. pulmonale, hepatische, gastrointestinale oder
cerebrale arteriovenöse Malformationen (AVM). Im Rahmen dieser
Arbeit wurden 33 Index-Patienten, bei denen der klinische Verdacht
auf Morbus Osler bestand, auf Mutationen in den Genen für Endoglin
und ACVRL1 untersucht. Bei allen Patienten wurden beide Gene mit
allen kodierenden Exons sequenziert. Dadurch konnte bei 22
Patienten eine krankheitsauslösende Mutation identifiziert werden.
5 der 22 identifizierten Mutationen werden in dieser Arbeit
erstmalig erwähnt. Bei einer Patientin konnten 2 Mutationen im Gen
für Endoglin identifiziert werden. Bei keinem Patienten konnten
Mutationen in beiden Genen gefunden werden. Im Rahmen einer
Promotorregionuntersuchung wurden 15 Patienten mit einem Morbus
Osler oder mit Verdacht auf Morbus Osler, bei denen keine
Mutationen in den Genen für Endoglin und ACVRL1 gefunden wurden,
untersucht. Es wurden jedoch keine Veränderungen im
ENG-Gen-Promotor gefunden.Osler –Weber-Rendu Syndrome also known as
hereditary haemorrhagic teleangiectasia (HHT) is an autosomal
dominantly inherited disorder characterised by cutaneous and
mucosal telangiectasias, epistaxis and arteriovenous malformations
in lung, liver, central nervous system and gastrointestinal tract.
Mutations in the genes for endoglin (ENG) and for activin A
receptor type II-like kinase 1 (ACVRL1) have been identified to
cause HHT. We performed molecular diagnosis in clinically affected
probands of 33 HHT families and detected mutations in 22 cases. We
report on a total of 5 novel disease-causing mutations. In the
context of a promoter region investigation, 15 Patients with
suspected or definitive HHT disease, in which no mutations in ENG
and ACVRL1 genes were found, have been investigated. However, no
changes in the ENG gene promoter were found
Treatment of trunk defects using perforator flaps: A case series introducing suprascapular artery perforator flap
No full textThis case series explores the efficacy of freestyle perforator flaps, including the newly introduced suprascapular artery perforator flap (SSAP), in reconstructing trunk defects. Over a five-year period, 24 perforator flap procedures were performed on 19 patients, primarily for defect reconstruction after skin tumor and ulcer resections. Flap design was customized using preoperative doppler ultrasound and they were then transferred to defects in a V-Y or propeller fashion. The most frequently utilized flaps were the dorsal intercostal artery perforator (DICAP) flap and the lumbar artery perforator (LAP) flap. Notably, SSAP flaps were successfully employed for shoulder defects resulting from squamous cell carcinoma resections.Complications occurred in 29 % of cases, including seroma evacuation, hematoma, and wound dehiscence, with one patient experiencing severe liver failure post-surgery. The versatility of perforator-based reconstruction was demonstrated through the combination of DICAP and LAP flaps for large trunk defects. Additionally, internal mammary artery perforator (IMAP) and lateral thoracic artery perforator (LTAP) flaps were utilized for parasternal and infraclavicular defects, respectively.The introduction of the SSAP flap expands the options for dorsal shoulder area reconstruction, offering faster healing and superior cosmetic results compared to traditional methods like secondary intention healing or skin grafting. Although this study showcases promising outcomes, further research is warranted to validate the effectiveness of SSAP flaps and to explore their applications in a broader patient population
The following issue is dedicated to the 65th birthday anniversary of the prominent representative of Georgian legal science Professor Tedo Ninidze
No full textTamar Zarandia - Component Parts of a Thing and Appurtenance in Georgian Property Law; Ketevan Kochashvili - Will and Manifestation of the Will; Natia Chitashvili - Specificity of Some Ethical Duties of Lawyer Mediator and Necessity of Regulation; Lela Janashvili, Giorgi Gogiashvili - Problems with the Modern State Territorial Organization; Giorgi Amiranashvili - Some Characteristics of Formal Requirements for a Legal Transaction in American Law; Ana Tokhadze - Legislative Shortfall of Investor’s Protection in the Process of Involuntary “Typological Death” of Accountable Enterprise from the Exchange Stock; Mariam Ioseliani - The Role of Sydnicated Loan in Project Financing; Daria Legashvili - Peculiarities for Definition of the Essential Conditions of the Agreement Concluded in Favor of the Third Party on the Basis of an Independent Require; Nino Pepanashvili - The Presumption of Fault of Provider of Medical Services Under the Civil Code of Georgia;; Salome Kavtaradze - On Due Diligence, as the Issue of Legal Notion; Tamar Khubashvili - Obligations Related to the Property Rights Subject to Registration with the Public Registry; Maia Kopaleishvili - For Declaring the Legal Act Void; George G. Tumanishvili - Universal System of Sex/Gender Registration; Lasha Margishvili - Federalism as the Territorial Organization Form Historically Existing in Georgia; Zurab Jibgashvili - Definition of the Role of Arbitration of the President of Georgia and Some of its Features; Revaz Khoperia - A Rule of Carrying out Discretionary Power of an Administrative Agency; Giorgi Getiashvili - Substance of Community Service; Maia Kvirikashvili - Witness Coaching by a Prosecutor; Lasha Panchulidze - The Concept of Customs Value, Determination of its Essence and Amount According to the Note to Article 214 of the Criminal Code of Georgia; Khatia Shekiladze - The Substance of the Best Interests of the Child Ushangi Bakhtadze The Harm Principle as One of the Bases of Criminalization
Journal of Law. N1, 2014
No full text1. Giorgi Davitashvili "Responsibility for the Wounding in Head and Face Area in Georgian Customary Law"; 2. Sulkhan Oniani "For the Meaning of the Term “Ganchineba” in Old Georgian Law"; 3. Gvantsa Gugeshashvili "Features of Implementation of Proprietary Rights, Existing on the Intellectual Property Objects, in the Form of Contribution"; 4. Lela Janashvili "Legal Security as the Key Function of the Law and Most Signifi cant Principle of the Law - Governed State"; 5. Giga Gabrichidze "Private Enforcement of Georgian Competition Law: Perspectives for the Future"; 6. Giorgi Amiranashvili "Mistake as to the Identity of a Contracting Party – Historical Origins and Contemporary Expressions"; 7. Ketevan Andguladze "Contract Concluded by E-mail "; 8. Tamar Lakerbaia "The Right of Withdrawal in European Consumer Protection Law"; 9. Davit Maisuradze "The Implementation of Defensive Measures Based on “Selective Equal Treatment” of Shareholders (Comparative-Legal Study Predominantly on the Example of Delaware and Georgian Corporate Law)"; 10. Natalia Motsonelidze "Separation of Subrogation from Regress and Cession"; 11. Ketevan Kochashvili
"Rights and Freedoms in the Framework of Basic Goods"; 11. Natia Chitashvili "Adaptation of the Agreement to Changed Circumstances, as Legal Outcome of Hardship"; 12. Nino Jibuti "The Essence and the Importance of Sovereign Rating"; 13. Sergi Jorbenadze "The Notion of Freedom of Contract"; 14. Lana Tsanava "Government Responsibility as a Mechanism of Balancing Power within the System of Separation of Power"; 15. Karlo Nikoleishvili "Independence and Impartiality of Parole Board"; 16. Lasha Panchulidze "Issue of Separation of Administrative and Criminal Responsibility for the Offences Against Customs"; 17. Temur Tskitishvili "Protecting Legal Good as the basis for Legitimization of Penalizing of Wrongdoings Involving Threat"; 18. Nataliya Glinskaya "The Signifi cance of Criminal Procedural Decisions Good-Quality Standards"; 19. Karabut Lyudmila "Problem Aspects of Realizaion of The Function Of Justice According to the CPC of Ukraine In the Context of Court Activity in Examination of Evidence"
The following issue is dedicated to the 65th birthday anniversary of the prominent representative of Georgian legal science Professor Tedo Ninidze
No full textTamar Zarandia - Component Parts of a Thing and Appurtenance in Georgian Property Law; Ketevan Kochashvili - Will and Manifestation of the Will; Natia Chitashvili - Specificity of Some Ethical Duties of Lawyer Mediator and Necessity of Regulation; Lela Janashvili, Giorgi Gogiashvili - Problems with the Modern State Territorial Organization; Giorgi Amiranashvili - Some Characteristics of Formal Requirements for a Legal Transaction in American Law; Ana Tokhadze - Legislative Shortfall of Investor’s Protection in the Process of Involuntary “Typological Death” of Accountable Enterprise from the Exchange Stock; Mariam Ioseliani - The Role of Sydnicated Loan in Project Financing; Daria Legashvili - Peculiarities for Definition of the Essential Conditions of the Agreement Concluded in Favor of the Third Party on the Basis of an Independent Require; Nino Pepanashvili - The Presumption of Fault of Provider of Medical Services Under the Civil Code of Georgia;; Salome Kavtaradze - On Due Diligence, as the Issue of Legal Notion; Tamar Khubashvili - Obligations Related to the Property Rights Subject to Registration with the Public Registry; Maia Kopaleishvili - For Declaring the Legal Act Void; George G. Tumanishvili - Universal System of Sex/Gender Registration; Lasha Margishvili - Federalism as the Territorial Organization Form Historically Existing in Georgia; Zurab Jibgashvili - Definition of the Role of Arbitration of the President of Georgia and Some of its Features; Revaz Khoperia - A Rule of Carrying out Discretionary Power of an Administrative Agency; Giorgi Getiashvili - Substance of Community Service; Maia Kvirikashvili - Witness Coaching by a Prosecutor; Lasha Panchulidze - The Concept of Customs Value, Determination of its Essence and Amount According to the Note to Article 214 of the Criminal Code of Georgia; Khatia Shekiladze - The Substance of the Best Interests of the Child Ushangi Bakhtadze The Harm Principle as One of the Bases of Criminalization
Journal of Law. N1, 2014
No full text1. Giorgi Davitashvili "Responsibility for the Wounding in Head and Face Area in Georgian Customary Law"; 2. Sulkhan Oniani "For the Meaning of the Term “Ganchineba” in Old Georgian Law"; 3. Gvantsa Gugeshashvili "Features of Implementation of Proprietary Rights, Existing on the Intellectual Property Objects, in the Form of Contribution"; 4. Lela Janashvili "Legal Security as the Key Function of the Law and Most Signifi cant Principle of the Law - Governed State"; 5. Giga Gabrichidze "Private Enforcement of Georgian Competition Law: Perspectives for the Future"; 6. Giorgi Amiranashvili "Mistake as to the Identity of a Contracting Party – Historical Origins and Contemporary Expressions"; 7. Ketevan Andguladze "Contract Concluded by E-mail "; 8. Tamar Lakerbaia "The Right of Withdrawal in European Consumer Protection Law"; 9. Davit Maisuradze "The Implementation of Defensive Measures Based on “Selective Equal Treatment” of Shareholders (Comparative-Legal Study Predominantly on the Example of Delaware and Georgian Corporate Law)"; 10. Natalia Motsonelidze "Separation of Subrogation from Regress and Cession"; 11. Ketevan Kochashvili
"Rights and Freedoms in the Framework of Basic Goods"; 11. Natia Chitashvili "Adaptation of the Agreement to Changed Circumstances, as Legal Outcome of Hardship"; 12. Nino Jibuti "The Essence and the Importance of Sovereign Rating"; 13. Sergi Jorbenadze "The Notion of Freedom of Contract"; 14. Lana Tsanava "Government Responsibility as a Mechanism of Balancing Power within the System of Separation of Power"; 15. Karlo Nikoleishvili "Independence and Impartiality of Parole Board"; 16. Lasha Panchulidze "Issue of Separation of Administrative and Criminal Responsibility for the Offences Against Customs"; 17. Temur Tskitishvili "Protecting Legal Good as the basis for Legitimization of Penalizing of Wrongdoings Involving Threat"; 18. Nataliya Glinskaya "The Signifi cance of Criminal Procedural Decisions Good-Quality Standards"; 19. Karabut Lyudmila "Problem Aspects of Realizaion of The Function Of Justice According to the CPC of Ukraine In the Context of Court Activity in Examination of Evidence"
A “Best Selling” British Author who wrote About Great Renaissant - De Rada and Albanians
No full textRarely authors of global reputation have written about Albania and well-known personalities of our culture and rarely they have remained or still remain in the darkness of anonymity for the general public and Albanian researchers. For this reason, insight, finding, lighting and display of writings, works and creations, yet unknown, of historians, linguists, ethnographers, writers, and foreign journalists, contributors with unrepeateable values for Albania, the Albanians and the history of our nation, remain an obligation, both scientific and noble. Finding the works and “unknown” authors is a homage in respect of the contributions they given for us, publication of their works would unfold in global dimensions the values that our nation has kept and conveyed, would enrich the funds of Albanian archives and along with it, the research bibliographies for a deeper image of our heritage. Definitely in this article it is evoked the image and work of a British author, Norman Dagllas, who until now remains unknown not only for the Albanian public, but also for the circles of our researchers. In the framework of a series of extensively well-known publications in its time, his most interesting, culminating and reputable republished work remains, “Old Calabria”. In the center of this work, which has seen the light of re-publication over 20 times and has been translated into most languages of the world, is our great poet of National Renaissance, Jeronim De Rada. And yet, strangely, it is still unknown and translated or published in Albanian.Keywords: novel, literature, poem, folklor, church
A “Best Selling” British Author Who Wrote About Great Renaissant - De Rada and Albanians
No full textRarely authors of global reputation have written about Albania and well-known personalities of our culture and rarely they have remained or still remain in the darkness of anonymity for the general public and Albanian researchers. For this reason, insight, finding, lighting and display of writings, works and creations, yet unknown, of historians, linguists, ethnographers, writers, and foreign journalists, contributors with unrepeateable values for Albania, the Albanians and the history of our nation, remain an obligation, both scientific and noble. Finding the works and “unknown” authors is a homage in respect of the contributions they given for us, publication of their works would unfold in global dimensions the values that our nation has kept and conveyed, would enrich the funds of Albanian archives and along with it, the research bibliographies for a deeper image of our heritage. Definitely in this article it is evoked the image and work of a British author, Norman Dagllas, who until now remains unknown not only for the Albanian public, but also for the circles of our researchers. In the framework of a series of extensively well-known publications in its time, his most interesting, culminating and reputable republished work remains, “Old Calabria”. In the center of this work, which has seen the light of re-publication over 20 times and has been translated into most languages of the world, is our great poet of National Renaissance, Jeronim De Rada. And yet, strangely, it is still unknown and translated or published in Albanian
