This curriculum vitae outlines the educational and professional background of Elena Daniela AFLOREI. She received her medical degree in 2004 and specialized in endocrinology and diabetes in 2010. She is currently a PhD student at Queen Mary University of London, studying the role of the AIP gene. Her research experience includes positions in Romania and the UK. She has received several awards and grants for her research on topics such as pituitary tumors and polycystic ovary syndrome.
The document discusses various types of arrhythmias including bradycardia, tachycardia, ventricular tachycardia, atrial flutter and atrial fibrillation. It then describes the causes and mechanisms of arrhythmias. It discusses several classes of antiarrhythmic drugs like membrane stabilizing agents, beta blockers, drugs causing repolarization and calcium channel blockers. It provides details about specific drugs like lidocaine, phenytoin, mexilitine, procainamide and quinidine including their mechanisms of action, indications, contraindications, side effects and dosages.
This document summarizes the properties and uses of the new oral anticoagulant Dabigatran. It notes that Dabigatran has been approved by the FDA to reduce risks of blood clots in knee or hip replacement surgery and atrial fibrillation. The recommended dosages are 150mg twice daily for high stroke risk or 110mg twice daily for high bleeding risk. Side effects include high costs, lack of an antidote currently, and possible increased heart attack risk or gastrointestinal bleeding. The document concludes that NOACs like Dabigatran have a favorable benefit-risk profile compared to warfarin but that individualized treatment is still important based on patient characteristics, and more clinical experience is
Pregnancy Induced Hypertension - Pre eclampsiaomar143
This document provides information about a 33-year-old pregnant woman admitted to the hospital with mild preeclampsia at 36 weeks of gestation. It includes her medical history, symptoms, physical exam findings, lab results, diagnosis, and notes on preeclampsia and its management. The key details are that she presented with swelling in her lower limbs and a history of amenorrhea for 8 months, and was found to have elevated blood pressure and mild preeclampsia at 36 weeks of pregnancy.
A blockage of blood flow to the heart muscle. A heart attack is a medical emergency.A heart attack usually occurs when a blood clot blocks blood flow to the heart.Without blood,tissues loses oxygen and dies
The document discusses various types of arrhythmias including bradycardia, tachycardia, ventricular tachycardia, atrial flutter and atrial fibrillation. It then describes the causes and mechanisms of arrhythmias. It discusses several classes of antiarrhythmic drugs like membrane stabilizing agents, beta blockers, drugs causing repolarization and calcium channel blockers. It provides details about specific drugs like lidocaine, phenytoin, mexilitine, procainamide and quinidine including their mechanisms of action, indications, contraindications, side effects and dosages.
This document summarizes the properties and uses of the new oral anticoagulant Dabigatran. It notes that Dabigatran has been approved by the FDA to reduce risks of blood clots in knee or hip replacement surgery and atrial fibrillation. The recommended dosages are 150mg twice daily for high stroke risk or 110mg twice daily for high bleeding risk. Side effects include high costs, lack of an antidote currently, and possible increased heart attack risk or gastrointestinal bleeding. The document concludes that NOACs like Dabigatran have a favorable benefit-risk profile compared to warfarin but that individualized treatment is still important based on patient characteristics, and more clinical experience is
Pregnancy Induced Hypertension - Pre eclampsiaomar143
This document provides information about a 33-year-old pregnant woman admitted to the hospital with mild preeclampsia at 36 weeks of gestation. It includes her medical history, symptoms, physical exam findings, lab results, diagnosis, and notes on preeclampsia and its management. The key details are that she presented with swelling in her lower limbs and a history of amenorrhea for 8 months, and was found to have elevated blood pressure and mild preeclampsia at 36 weeks of pregnancy.
A blockage of blood flow to the heart muscle. A heart attack is a medical emergency.A heart attack usually occurs when a blood clot blocks blood flow to the heart.Without blood,tissues loses oxygen and dies
This document discusses various protocols for anticoagulation during hemodialysis. It begins by noting that patients on hemodialysis are at risk of both bleeding and thrombosis. It then outlines several protocols for anticoagulation including unfractionated heparin (UFH) administered via constant infusion or intermittent bolus, and low molecular weight heparin (LMWH). LMWH has benefits over UFH like longer half-life and more predictable effects, but is also more expensive. The document also discusses heparin-free dialysis, regional citrate anticoagulation, and other alternatives to standard heparin protocols. Selection of the optimal anticoagulation method requires consideration of individual patient
This document discusses the treatment of bradycardia. It describes types of bradycardia including sinus and various atrioventricular blocks. Potential causes are listed ranging from ischemia to infections. Treatment depends on stability and includes identifying and treating the underlying cause, medications like atropine or adrenaline, transcutaneous pacing, and referral to cardiology for temporary pacing wires or permanent pacemaker implantation.
CRRT (continuous renal replacement therapy) involves using an extracorporeal circuit connected to the patient via catheters to slowly remove fluid and toxins over 24 hours, mimicking the function of the kidneys. It was developed for critically ill patients who cannot tolerate the fluid shifts of intermittent hemodialysis. CRRT uses a semipermeable membrane to filter fluids and small molecules from the blood based on hydrostatic pressure gradients. It provides more hemodynamic stability than intermittent hemodialysis and allows for better nutrition support by preventing fluid overload. CRRT is indicated for patients who cannot tolerate intermittent dialysis due to hemodynamic instability from their critical illness.
Peritoneal dialysis is a way to remove waste products from your blood when your kidneys can no longer do the job adequately.
A cleansing fluid flows through a tube (catheter) into part of your abdomen and filters waste products from your blood. After a prescribed period of time, the fluid with filtered waste products flows out of your abdomen and is discarded.
Peritoneal dialysis differs from hemodialysis, a more commonly used blood-filtering procedure. With peritoneal dialysis, you can give yourself treatments at home, at work or while traveling.
COPD exacerbation case presentation and disease overview farah al souheil
management of a simulated case scenario: patient presenting with COPD exacerbation: what's the best next step? summary of the guideline is then described
Edelman-derived quantification of dyselectrolytemias.
Equation-based monitoring of hyponatremia therapy with a focus on safely and predictably increasing sodium as per guideline advice using a strategy involving desmopressin administration in severe hyponatremias, especially those patients at risk of becoming overcorrectors. Explanation of risk factors responsible for overshooting when correcting hyponatremia. Adrogue-Madias, Barsoum, Nguyen-Kurtz equations are explained and proven to be of help at least conceptually when attempting to have a desmopressin-guided therapy in hyponatremia. All recommendations are done in accordance with European and American guidelines published in 2013 and 2014.
N-acetylcysteine (NAC) is an antidote and mucolytic agent with FDA approval for acetaminophen overdose and adjunctive mucolytic therapy. It works by increasing glutathione stores to prevent liver toxicity from acetaminophen or by lowering mucus viscosity. NAC is available as an intravenous or inhaled solution and oral capsules. The intravenous route is preferred for severe overdose or inability to take oral medications. Common side effects include nausea and vomiting. While its efficacy for other off-label uses like contrast-induced nephrotoxicity prevention is unclear, it is generally well-tolerated with minimal drug interactions.
This document summarizes the ROCKET-AF clinical trial which compared the efficacy of rivaroxaban versus warfarin in preventing thromboembolic events in patients with non-valvular atrial fibrillation. The trial had a large multi-center international design with over 1,100 sites across 45 countries. It enrolled patients at moderate to high risk of stroke and had rigorous exclusion criteria to reduce risk of bleeding and confounding variables. The primary objective was to demonstrate rivaroxaban was non-inferior to warfarin in preventing strokes and other thromboembolic events.
The document discusses the results of a study on the impact of COVID-19 lockdowns on air pollution. Researchers found that lockdowns led to significant short-term reductions in nitrogen dioxide and fine particulate matter pollution globally as economic activities slowed. However, the impacts on greenhouse gases and long-term air quality improvements remain uncertain without permanent behavior and economic changes.
1) Aggrastat (tirofiban hydrochloride) is an intravenous antiplatelet medication indicated for the prevention of myocardial infarction in patients presenting with acute coronary syndromes without ST-elevation who are managed medically or undergoing a percutaneous coronary intervention such as PTCA.
2) It works by blocking platelets from sticking together to form blood clots by inhibiting the GpIIb/IIIa receptor on platelet surfaces.
3) Nursing implications for Aggrastat administration include monitoring for bleeding and thrombocytopenia, minimizing invasive procedures, and educating patients about signs of bleeding or allergic reaction to report.
This document summarizes a presentation on therapeutic plasma exchange (PEX) given by Kamal Mohamed Okasha. It provides an overview of the PEX procedure and potential indications for PEX, including Goodpasture's Syndrome, thrombotic thrombocytopenic purpura, cryoglobulinemia, multiple myeloma, and ANCA disease. It discusses complications of PEX and guidelines for efficacy based on recent studies. In particular, it examines the use of PEX for Goodpasture's Syndrome, noting that PEX aims to remove circulating anti-GBM antibodies and that studies have found improved outcomes, including renal function and survival, for patients receiving PEX treatment.
The document discusses newer oral anticoagulants (NOACs) that are alternatives to vitamin K antagonists for treating and preventing blood clots. It describes several NOACs including dabigatran, rivaroxaban, apixaban, and edoxaban. For each drug, it provides information on indications, pharmacokinetics, dosing regimens, clinical trials results, and safety compared to warfarin. The document concludes that NOACs are as effective as warfarin with less monitoring requirements but may have a higher risk of gastrointestinal bleeding.
This document contains several case studies related to anemia management in chronic kidney disease (CKD) patients:
Case 1 describes a hemodialysis patient with pancytopenia due to secondary hyperparathyroidism causing bone marrow fibrosis. Case 2 involves a CKD patient who developed pure red cell aplasia due to erythropoietin antibodies. Case 3 is a patient with occult colon cancer presenting as iron deficiency anemia. Cases 4 and 5 discuss evaluating and treating iron deficiency anemia in CKD patients. The document also reviews causes of erythropoiesis-stimulating agent resistance and options for treating anemia in CKD.
This document provides an overview of pulmonary embolism (PE), including its definition, risk factors, types, natural history, symptoms, signs, investigations, diagnosis, and management. PE is defined as obstruction of the pulmonary artery or its branches by material such as thrombus. It discusses diagnostic tests like CT, VQ scan, echocardiogram and their role in determining pretest probability. Management involves anticoagulation with drugs like heparin, warfarin, rivaroxaban. Thrombolysis may be used for massive PE while inferior vena cava filters can be placed in patients who cannot receive anticoagulation.
This document discusses the management of severe hyponatremia in a 70-year old man with COVID-19, CKD, and other comorbidities admitted to the ICU with a sodium level of 112 mmol/L. It considers using continuous venovenous hemofiltration (CVVH) with a customized replacement solution of 140 mmol/L sodium and adding D5W to achieve a target sodium level of 116 mmol/L over the treatment period. Alternatively, daily hemodialysis with a dialysate of 130 mmol/L sodium could correct the sodium by 9 mmol/L over 2 hours. Customizing dialysate solutions by adding sterile water allows achieving a desired sodium concentration to prevent overly rapid correction
This document is a curriculum vitae for Dr. Riccardo Magistroni. It summarizes his professional experience, education, research projects, publications, and teaching experience. Some key details include:
- He is currently an Assistant Professor at the University of Modena and Reggio Emilia in Italy, with previous positions at Columbia University and the University of Toronto.
- His research has focused on genetics of kidney diseases like IgA nephropathy and autosomal dominant polycystic kidney disease. He has received funding from Italian and regional government agencies.
- He has over 10 publications in peer-reviewed journals on topics related to kidney disease genetics and pathogenesis.
- He teaches courses in nephro
This curriculum vitae summarizes the educational and professional experience of Mirta Milić. She received her PhD in 2010 from the Faculty of Science in Zagreb, Croatia. Since 2011, she has worked as a Scientific Associate at the Institute for Medical Research and Occupational Health in Zagreb, focusing on genotoxicology and genetic monitoring. She also spent over a year as a postdoctoral fellow at the IRCCS San Raffaele Pisana in Rome, Italy from 2013-2014. Her research interests include genetic toxicology, biomarkers of exposure to various agents, and genetic monitoring. She has authored or co-authored several peer-reviewed publications in her field.
This document discusses various protocols for anticoagulation during hemodialysis. It begins by noting that patients on hemodialysis are at risk of both bleeding and thrombosis. It then outlines several protocols for anticoagulation including unfractionated heparin (UFH) administered via constant infusion or intermittent bolus, and low molecular weight heparin (LMWH). LMWH has benefits over UFH like longer half-life and more predictable effects, but is also more expensive. The document also discusses heparin-free dialysis, regional citrate anticoagulation, and other alternatives to standard heparin protocols. Selection of the optimal anticoagulation method requires consideration of individual patient
This document discusses the treatment of bradycardia. It describes types of bradycardia including sinus and various atrioventricular blocks. Potential causes are listed ranging from ischemia to infections. Treatment depends on stability and includes identifying and treating the underlying cause, medications like atropine or adrenaline, transcutaneous pacing, and referral to cardiology for temporary pacing wires or permanent pacemaker implantation.
CRRT (continuous renal replacement therapy) involves using an extracorporeal circuit connected to the patient via catheters to slowly remove fluid and toxins over 24 hours, mimicking the function of the kidneys. It was developed for critically ill patients who cannot tolerate the fluid shifts of intermittent hemodialysis. CRRT uses a semipermeable membrane to filter fluids and small molecules from the blood based on hydrostatic pressure gradients. It provides more hemodynamic stability than intermittent hemodialysis and allows for better nutrition support by preventing fluid overload. CRRT is indicated for patients who cannot tolerate intermittent dialysis due to hemodynamic instability from their critical illness.
Peritoneal dialysis is a way to remove waste products from your blood when your kidneys can no longer do the job adequately.
A cleansing fluid flows through a tube (catheter) into part of your abdomen and filters waste products from your blood. After a prescribed period of time, the fluid with filtered waste products flows out of your abdomen and is discarded.
Peritoneal dialysis differs from hemodialysis, a more commonly used blood-filtering procedure. With peritoneal dialysis, you can give yourself treatments at home, at work or while traveling.
COPD exacerbation case presentation and disease overview farah al souheil
management of a simulated case scenario: patient presenting with COPD exacerbation: what's the best next step? summary of the guideline is then described
Edelman-derived quantification of dyselectrolytemias.
Equation-based monitoring of hyponatremia therapy with a focus on safely and predictably increasing sodium as per guideline advice using a strategy involving desmopressin administration in severe hyponatremias, especially those patients at risk of becoming overcorrectors. Explanation of risk factors responsible for overshooting when correcting hyponatremia. Adrogue-Madias, Barsoum, Nguyen-Kurtz equations are explained and proven to be of help at least conceptually when attempting to have a desmopressin-guided therapy in hyponatremia. All recommendations are done in accordance with European and American guidelines published in 2013 and 2014.
N-acetylcysteine (NAC) is an antidote and mucolytic agent with FDA approval for acetaminophen overdose and adjunctive mucolytic therapy. It works by increasing glutathione stores to prevent liver toxicity from acetaminophen or by lowering mucus viscosity. NAC is available as an intravenous or inhaled solution and oral capsules. The intravenous route is preferred for severe overdose or inability to take oral medications. Common side effects include nausea and vomiting. While its efficacy for other off-label uses like contrast-induced nephrotoxicity prevention is unclear, it is generally well-tolerated with minimal drug interactions.
This document summarizes the ROCKET-AF clinical trial which compared the efficacy of rivaroxaban versus warfarin in preventing thromboembolic events in patients with non-valvular atrial fibrillation. The trial had a large multi-center international design with over 1,100 sites across 45 countries. It enrolled patients at moderate to high risk of stroke and had rigorous exclusion criteria to reduce risk of bleeding and confounding variables. The primary objective was to demonstrate rivaroxaban was non-inferior to warfarin in preventing strokes and other thromboembolic events.
The document discusses the results of a study on the impact of COVID-19 lockdowns on air pollution. Researchers found that lockdowns led to significant short-term reductions in nitrogen dioxide and fine particulate matter pollution globally as economic activities slowed. However, the impacts on greenhouse gases and long-term air quality improvements remain uncertain without permanent behavior and economic changes.
1) Aggrastat (tirofiban hydrochloride) is an intravenous antiplatelet medication indicated for the prevention of myocardial infarction in patients presenting with acute coronary syndromes without ST-elevation who are managed medically or undergoing a percutaneous coronary intervention such as PTCA.
2) It works by blocking platelets from sticking together to form blood clots by inhibiting the GpIIb/IIIa receptor on platelet surfaces.
3) Nursing implications for Aggrastat administration include monitoring for bleeding and thrombocytopenia, minimizing invasive procedures, and educating patients about signs of bleeding or allergic reaction to report.
This document summarizes a presentation on therapeutic plasma exchange (PEX) given by Kamal Mohamed Okasha. It provides an overview of the PEX procedure and potential indications for PEX, including Goodpasture's Syndrome, thrombotic thrombocytopenic purpura, cryoglobulinemia, multiple myeloma, and ANCA disease. It discusses complications of PEX and guidelines for efficacy based on recent studies. In particular, it examines the use of PEX for Goodpasture's Syndrome, noting that PEX aims to remove circulating anti-GBM antibodies and that studies have found improved outcomes, including renal function and survival, for patients receiving PEX treatment.
The document discusses newer oral anticoagulants (NOACs) that are alternatives to vitamin K antagonists for treating and preventing blood clots. It describes several NOACs including dabigatran, rivaroxaban, apixaban, and edoxaban. For each drug, it provides information on indications, pharmacokinetics, dosing regimens, clinical trials results, and safety compared to warfarin. The document concludes that NOACs are as effective as warfarin with less monitoring requirements but may have a higher risk of gastrointestinal bleeding.
This document contains several case studies related to anemia management in chronic kidney disease (CKD) patients:
Case 1 describes a hemodialysis patient with pancytopenia due to secondary hyperparathyroidism causing bone marrow fibrosis. Case 2 involves a CKD patient who developed pure red cell aplasia due to erythropoietin antibodies. Case 3 is a patient with occult colon cancer presenting as iron deficiency anemia. Cases 4 and 5 discuss evaluating and treating iron deficiency anemia in CKD patients. The document also reviews causes of erythropoiesis-stimulating agent resistance and options for treating anemia in CKD.
This document provides an overview of pulmonary embolism (PE), including its definition, risk factors, types, natural history, symptoms, signs, investigations, diagnosis, and management. PE is defined as obstruction of the pulmonary artery or its branches by material such as thrombus. It discusses diagnostic tests like CT, VQ scan, echocardiogram and their role in determining pretest probability. Management involves anticoagulation with drugs like heparin, warfarin, rivaroxaban. Thrombolysis may be used for massive PE while inferior vena cava filters can be placed in patients who cannot receive anticoagulation.
This document discusses the management of severe hyponatremia in a 70-year old man with COVID-19, CKD, and other comorbidities admitted to the ICU with a sodium level of 112 mmol/L. It considers using continuous venovenous hemofiltration (CVVH) with a customized replacement solution of 140 mmol/L sodium and adding D5W to achieve a target sodium level of 116 mmol/L over the treatment period. Alternatively, daily hemodialysis with a dialysate of 130 mmol/L sodium could correct the sodium by 9 mmol/L over 2 hours. Customizing dialysate solutions by adding sterile water allows achieving a desired sodium concentration to prevent overly rapid correction
This document is a curriculum vitae for Dr. Riccardo Magistroni. It summarizes his professional experience, education, research projects, publications, and teaching experience. Some key details include:
- He is currently an Assistant Professor at the University of Modena and Reggio Emilia in Italy, with previous positions at Columbia University and the University of Toronto.
- His research has focused on genetics of kidney diseases like IgA nephropathy and autosomal dominant polycystic kidney disease. He has received funding from Italian and regional government agencies.
- He has over 10 publications in peer-reviewed journals on topics related to kidney disease genetics and pathogenesis.
- He teaches courses in nephro
This curriculum vitae summarizes the educational and professional experience of Mirta Milić. She received her PhD in 2010 from the Faculty of Science in Zagreb, Croatia. Since 2011, she has worked as a Scientific Associate at the Institute for Medical Research and Occupational Health in Zagreb, focusing on genotoxicology and genetic monitoring. She also spent over a year as a postdoctoral fellow at the IRCCS San Raffaele Pisana in Rome, Italy from 2013-2014. Her research interests include genetic toxicology, biomarkers of exposure to various agents, and genetic monitoring. She has authored or co-authored several peer-reviewed publications in her field.
The Department of Nephrology at the School of Medicine has several goals for its training program including learning a biopsychosocial approach to patient care, pursuing patient-centered research experiences, and participating in community health improvement activities. The department was established in 1992 and currently has five faculty members led by Dr. T. Ariunaa. The department covers all aspects of nephrology and provides primary care to patients with chronic kidney disease. Areas of research focus include studies on chronic kidney disease epidemiology and risk factors. The training program prepares fellows for academic or clinical nephrology careers and offers opportunities for research training.
Sunt dr Ditoiu Alecse Valerian, absolvent de facultate cu media generala zece, sef de promotie pe tara.
Acum sunt medic specialist gastroenterologie, hepatologie si endoscopie digestiva cu 37 de ani de experienta medicala, din care 29 de ani la cel mai mare spital din tara, Spitalul Fundeni din Bucuresti unde am ingrijit peste 100.000 de bolnavi.
Acum lucrez intr-un cabinet de consultatii de gastroenterologie si hepatologie in Clinica Sante din Bucuresti, pe strada Magura Vulturului nr 87 sector 2.
PROGRAMARI CONSULTATIE gastroenterologie sau hepatologie 0758 751 841
PRETURI
Prima consultație gastroenterologie sau hepatologie – 300 lei
Consultatie de urgenta (in ziua solicitarii sau in zilele imediat urmatoare) tot 300 lei.
Consultatii de control în următoarele 4 luni – 150 lei
Perioada obisnuita de asteptare pana la consultatie este de 0 – 10 zile de la solicitare
Informatii medicale gasiti pe clinicagastroenterologie.ro
This curriculum vitae is for Sara Silvia Roscioni, an Italian pharmacologist born in 1980. She received a Master's degree in pharmaceutical chemistry from the University of Milan in 2005 and a PhD in molecular pharmacology from the University of Groningen in 2010. Since 2013, she has worked as a post-doctoral fellow at the Helmholtz Zentrum München, researching diabetes and regeneration. Her research focuses on diabetes and respiratory diseases, with a goal of improving patient quality of life and treatment through optimizing drug development and discovery.
Dr. Anwar Ali is a Pakistani medical specialist currently working at Kings International Hospital in Swat, KPK, Pakistan. He received his MBBS from Saidu Medical College in Swat and has over 10 years of experience working in hospitals in Islamabad. He is fellowshiped in internal medicine by the College of Physicians and Surgeons Pakistan and holds MRCP certification from the UK. His areas of specialty include endocrinology, rheumatology, and neurology.
This document provides a summary of Nima Rezaei's educational background and professional experience. It details that he received his M.D. from Tehran University of Medical Sciences, and obtained his M.Sc. and Ph.D. from the University of Sheffield. Rezaei has held several executive roles, including Chief Executive Director of the Children's Medical Center Hospital and Deputy President of the Research Center for Immunodeficiencies. He has over 500 publications and has received numerous awards for his research and contributions to the field of immunology.
This document is a curriculum vitae for Emmanuel Dupont. It provides biographical information such as his date of birth, education history, employment history, research interests, teaching experience, and publications. His research has focused on gap junctions and their role in cell-to-cell communication, particularly in relation to the cardiovascular system.
Ashwin Udupa has over 9 years of experience in anaesthesia and intensive care. He is currently a Senior Clinical Fellow in cardiac and neuro ICUs and anaesthesia at St. George's Hospital in London. Prior to this, he spent 4 years in teaching hospitals in India and has worked in the NHS in the UK as well. He has extensive experience in paediatric anaesthesia and intensive care.
Gabriella Di Stefano has over 15 years of experience in research and instruction. She holds a PhD in Translational Medicine from the University of L'Aquila and has worked as a research scholar at Case Western Reserve University. Her research focuses on skin wound healing, platelet rich plasma, and inflammatory bowel diseases. She has published papers in peer-reviewed journals and presented her work at conferences.
This curriculum vitae summarizes the education and experience of Benjamin Cooperman. He earned a B.A. in Biology from California State University, Northridge in 2015. As an undergraduate, he conducted research investigating the role of TRPV4 in prediabetic nerve sensitivity and determining the efficacy of salts in unclumping yeast cells. He has also volunteered at Olive View-UCLA Medical Center, identifying issues with uninsured patients and developing solutions to improve access to specialist care.
This document provides a summary of Yuling Chi's background and qualifications. It summarizes that she has over 20 years of experience in biochemistry, enzymology, molecular biology and other fields. She has directed a research laboratory for 7 years, overseeing projects, trainees, and publishing papers. Her research has focused on lipid and carbohydrate metabolism, and the identification of drug candidates for conditions like hypertension, obesity and diabetes.
Foresight in medicine: research induced society changes in the next decadeCaroline McClain
This document announces a symposium at the Embassy of Italy on advances in personalized medicine and their social impacts. The symposium will feature panels of scientists and policymakers discussing topics like how personalized medicine will change healthcare delivery and clinical practice in areas like cancer and neurodegenerative diseases. Emerging technologies in areas like imaging, nanotechnology, and mobile health will enable personalized care but also raise issues around ethics, regulation, and ensuring equitable access. The one-day event aims to identify key medical advances in the next decade and their implications for individuals and healthcare systems.
On 3 August 2023, the Clinical Research Centre Hospital Kuala Lumpur (CRC HKL) hosted their 6th Hospital Kuala Lumpur Research Day 2023 at the HKL Main Auditorium. This book comprises all of the accepted abstracts for oral and poster presentations.
This document provides a summary of Evmorfia Tzagkaraki's resume. She has over 15 years of experience as a molecular biologist and geneticist. Currently, she is the Head of the Molecular Biology Department at Diagnosis Medical Diagnostic Centre in Rethymnon, Greece, where she helped develop the department. Previously, she was Head of Laboratory at Omnigen Biotechnological Applications SA. She holds a PhD in molecular investigation of genetic diseases from the University of Crete and has published papers in peer-reviewed journals. She is proficient in molecular biology techniques and has experience managing medical laboratories.
World Nephrology Congress will be held in Paris, France during June 20-22, 2018. It will bring together world-class nephrologists, scientists and professors to discuss strategies for disease remediation for kidney in this nephrology congress. World Nephrology Congress is designed to provide a diverse and current education that will keep medical professionals up to date on issues affecting the diagnosis, treatment of kidney disorders and prevention.
Scientific Sessions
Nephrology
Clinical Nephrology
Pediatric Nephrology
Treatments in Nephrology
Nephrology Nursing
Diabetes and Hypertension
Renal Dialysis and Care
Renal Surgery
Kidney Cancer
Kidney Transplantation
For more details, kindly visit: https://www.meetingsint.com/nephrology-conferences/nephrology
Euro pathology meet 2018 final programmeTanya Singh
Preceding the great success of Euro Pathology Meet 2018, we are pleased to announce the Euro Pathology Meet 2019 i.e. 2nd European Pathology and Infectious Disease Conference which is scheduled to be held in Helsinki, Finland on November 19-20, 2019. Through the theme of “Emphasizing the practical approaches in pathology", the conference will explore the advances in pathology and its allied fields. This conference could be a remarkable event that carries the mixture of novel and advanced pathological techniques for the diagnosis of emerging diseases. It will provide an international platform to share expertise, foster collaborations across trade and world, and assess rising technologies across the world.
Note: 2 free passes on the group participation of 10 participants and 4 free passes on the group participation of 15 students.
For any further information:
Contact
Tanya Singh | Program Manager
Euro Pathology Meet 2019
47 Churchfield Road, London, W3 6AY,
United Kingdom.
Toll No: +44-2088190774
Tel: +1-201-380-5561 Ext: 7007
Email: biopathology@memeetings.net
Web URL: biopathology.pathologyconferences.com
Welcome to the 1st International
Student Conference on
Industrial Pharmacy
President SC ISPE
Our conference is a pioneering event hosted by the
Poznan University of Medical Sciences and will be held
on the 7th and 8th of December, 2023. This conference
is a great opportunity to advance knowledge in the
field of pharmacy and provides a platform for students
to showcase their work.
The Event enables students to develop knowledge
especially in the field of pharmaceutical industry.
Moreover, it offers students a unique opportunity to
present their research through poster sessions and
presentations, fostering academic and professional
growth.
Our lectures boasts an impressive lineup of
distinguished speakers hailing from Poland, the United
Kingdom, and the Czech Republic, representing both
academia and industry. Their expertise will provide
invaluable insights into the dynamic world of industrial
pharmacy. Additionally, attendees can look forward to
a memorable Gala Night and engaging workshop
The document provides information on the Global Initiative for Chronic Obstructive Lung Disease (GOLD) 2019 teaching slide set, including its board of directors, science committee, assembly members, and website. It outlines the chapters covered in the GOLD 2019 report, including definition and overview of COPD, diagnosis and initial assessment, evidence supporting prevention and maintenance therapy, management of stable COPD, management of exacerbations, and COPD and comorbidities. Key points are provided on the definition, prevalence, economic burden, factors influencing disease progression, pathology, and chapters covered in the report.
This document discusses two case studies that demonstrate how humanities research contributes to addressing societal challenges. The first case study shows how archaeologists and biologists collaborating in Finland found that northern Europeans may not have always been heavy milk drinkers as traditionally believed. This rethinking of lactose tolerance in northern Europeans could help improve understanding of food intolerance. The second case study examined video recordings of doctor-patient interactions to identify linguistic patterns that can help distinguish between epileptic and non-epileptic seizures. A method derived from conversation analysis was able to correctly predict diagnoses 85% of the time, improving on traditional focus only on what patients say. These cases illustrate how humanities research provides new perspectives that can address health challenges.
Ähnlich wie CV Elena Daniela Aflorei 11.03.2015 (20)
1. Curriculum Vitae. Elena Daniela AFLOREI, MD, MSc
Elena Daniela AFLOREI, MD, MSc
Contact Details
Address: Centre for Endocrinology, William Harvey Research Institute,
Barts and the London School of Medicine and Dentistry,
Queen Mary University of London
1st floor John Vane Science Building,
Charterhouse Square, London, EC1M 6BQ, UK
Phone: 07864114467
E-mail: e.d.aflorei@qmul.ac.uk
Personal Details
Date of Birth: 7 August 1978
Nationality: Romanian (EU Citizen)
Current activity
09.01.2012-present: PhD student William Harvey Research Institute, Barts and the
London Medical School, Queen Mary University of London;
Start date: January 9th, 2012.
Expected date for submitting the thesis: January 9th, 2016
Primary Supervisor: Prof Márta Korbonits, MD, PhD
Secondary Supervisor: Prof Ralf Stanewsky, PhD
Previous activities
01.04.2011 – 31.12.2011: Research Fellow William Harvey Research Institute,
QMUL, London, UK.
01.01.2011 – 31.04.2011: Research Fellow University of Medicine Carol Davila,
Bucharest, Romania
01.01.2006 – 31.12.2010 Training in Endocrinology and Diabetes at “C.I. Parhon”
National Institute of Endocrinology, Bucharest, Romania
Supervisor: Dr Madalina Musat, MD, PhD
01.01.2005 – 01.01.2006 Internship in intensive care at Emergency Clinical Hospital
of Mures County, Targu Mures, Romania
Supervisor: Prof Dr Sanda Copotoiu, MD, PhD Chief of Intensive Care Department
Clinical qualification: Specialist in Endocrinology and Diabetes
Degree awarded by the Romanian National Minister for Health, 2010.
Certified by the Romanian Council of Endocrinology.
Clinical rotations and activities:
- 01. 01.2009 – 31.12.2010 SpR Endocrinology “C.I. Parhon” National
Institute of Endocrinology
Pathology: Acromegaly, Bone diseases, Cushing’s disease, Diabetes and lipid
metabolism, General Endocrinology, Neuroendocrine tumours, Non-
functioning pituitary adenomas, Obesity, Prolactinomas, Thyroid pathology.
2. Curriculum Vitae. Elena Daniela AFLOREI, MD, MSc
Endocrinology Ward: clinical care and follow up of inpatients, dynamic
hormonal tests, perioperative management of endocrine patients, endocrine
emergencies, assessment of patients from other specialties, post-I131
surveillance.
- 01.01.2008 – 31.12.2008 SpR Endocrinology “N.C. Paulescu” National
Institute of Diabetes and Endocrine Diseases: Diabetes and diabetic acute and
chronic complications
- 01.01.2006 –31.12.2007 SpR Endocrinology Rotation on Internal medicine,
Obstetrics and gynaecology, Cardiology Neurology, Nephrology, Psychiatry and
Acute medicine.
Education
Master in Genetics, Microbiology and Biotechnology – University of Bucharest /
Faculty of Biology Bucharest, 2007-2009
Dissertation title: Study case-control for testing the association between SNP rs7566605 of
INSIG2 gene and obesity of Polycystic Ovary Syndrome
Supervisor: Dan Cimponeriu, PhD, Senior Lecturer in Genetics, Scientific Researcher III
General Medicine – University of Medicine and Pharmacy Targu Mures, 1998-2004;
Dissertation title: Microbial pharyngeal contamination of medicine students;
Supervisor: Associate Prof Toma Felicia, MD
Teaching and students’ supervision experience
2015: Speaker, Neuroendocrinology Option Module
One session per year
Centre for Endocrinology, William Harvey Research Institute, Barts and the London School
of Medicine, Queen Mary University of London.
Activities:
- Preparing and delivering talks on designing and keeping reference databases.
- Elaborating questions and helping to review exams.
2014-2015: Postgraduate Demonstrator.
Four – five session/ month
Activities:
- Regularly supervise for practicals for undergraduate students.
- Training undergraduate students on Molecular Biology techniques.
- Marking the students’ practical answers
2012-2015: Undergraduates and MRes Students’ supervision
Centre for Endocrinology, William Harvey Research Institute, QMUL.
Activities:
- Training undergraduate students on Molecular Biology techniques.
- Supervising the students on writing their thesis
2012-2014: OSCEs examiner
Four – five session/ year
Activities:
- Evaluating medical students during Objective Structured Clinical Examinations.
3. Curriculum Vitae. Elena Daniela AFLOREI, MD, MSc
2010: Lecturer - Carol Davila University of Medicine, Bucharest-Romania
“Genomics, Proteomics, and the Changing of Medical research” Research Methodology
module for 4th year medical students
Awards and grants
2015 Early Career Grant Society for Endocrinology, UK (£10,000).
2011-2015: Travel grants for National and International Meetings from the British
Society for Endocrinology, European Society of Endocrinology and QMUL Postgraduate
fund (£5,362).
2011 William Harvey Research Foundation, UK (funding for PhD £40,000).
2012 Prize of the Romanian Society of Endocrinology at the 20th Congress of
Endocrinology, Sinaia 27-29 September, Romania for “Danio rerio as a model organism
for FIPA syndrome. Preliminary data”;
2010 Samuel Leonard Simpson Fellowship in Endocrinology awarded by Royal
College of Physicians, London (£ 8,000)
2010 Prize of The Romanian Psychoneuroendocrinology Society, at The 5th
National Congress of Neuroendocrinology 27-29 May Poiana Brasov, Romania for:
“Clonality analysis of pituitary adenomas. Experimental protocol and preliminary results”
2009 Prize of the Romanian Society of Endocrinology at The 17th Congress of
Endocrinology, Sinaia 29-31 October, Romania for “Study case-control for testing the
association between SNP rs7566605 of INSIG2 gene and obesity of Polycystic Ovary
Syndrome
Publications
Books:
Fica,S., et al., “The Graves' Disease in pregnant woman: can we leave the treatment
decision to the patient?” Medical Editure, Bucharest, 2006, 4.2:162-169.
Articles:
Aflorei ED, Korbonits M (2013) Epidemiology and Etiopathogenesis of Pituitary
Tumours, J of Neuro-Oncology
Garcia EA, Trivellin G, Aflorei ED, Powell M, Grieve J, Alusi G, Pobereskin L, Shariati
B, Cudlip S, Roncaroli F, Mendoza N, Grossman AB, Harper EA, Korbonits M (2013)
Characterization of SNARE Proteins in Human Pituitary Adenomas: Targeted
Secretion Inhibitors as a New Strategy for the Treatment of Acromegaly? J Clin
Endocrinol Metab 98 (12):E1918-1926. doi:10.1210/jc.2013-2602
Baciu, I., Radian, S., Capatina, C., Botusan, I., Aflorei, E.D., Stancu, C.,
Dumitrascu, A., Ciubotaru, V., and Coculescu, M. (2013). The p.R16H (C.47G>A) AIP
gene variant in a case with invasive non-functioning pituitary macroadenomas and
Screening of a Control Cohort. Acta Endocrinol (Buc) IX, 12.
Madalina Musat, Bogdan Stanescu, Daniel Grigorie, Rucsandra Danciulescu, D.
Hortopan, V. Nicolicea, Aflorei, E.D., Catalina Poiana: “Cushing Syndrome in
pregnancy – review of the literature and case report”, Gineco.ro, article published in
nr2/vol 5/May 2009
4. Curriculum Vitae. Elena Daniela AFLOREI, MD, MSc
Conference abstracts, first author:
Aflorei, E.D. et al. Functional Homology between Human and Fruitfly AIP Protein -
An In Vivo Assay System to Test the Pathogenicity of AIP Mutations. ENDO 2015
(San Diego, CA, USA, 2015); P SAT-440.
Aflorei, E.D. et al. Overexpression Of Human Aip Gene Can Rescue The Lethality Of
The Knockout Fruitfly Model; XXII Romanian Congress of Endocrinology (Targu
Mures, Romania, 2014) - Oral Communication.
Aflorei, E.D. et al. Human AIP gene rescue lethality in a Drosophila melanogaster
knockout model of AIP orthologue. 16th European Congress of Endocrinology 2014
Vol. Endocrine Abstracts 55 (Wrocław, Poland, 2014) - Oral Communication.
Aflorei, E.D. et al. The role of AIP in the integrin pathway in Gondon Research
Conference - Fibronectin, Integrins & Related Molecules (Ventura, CA, USA, 2013).
Aflorei, E.D. et al. Drosophila melanogaster as a model organism to study aryl
hydrocarbon receptor interacting protein (AIP) gene function. 16th European
Congress of Endocrinology, Copenhagen, Denmark 27 April-1 May (2013).
Aflorei, E.D. et al. Danio rerio as a model organism for FIPA syndrome. Preliminary
data. The Romanian Society of Endocrinology National Symposium with
international participation (2012).
Aflorei, E.D. et al. Aryl Hydrocarbon Receptor-Interacting Protein- (AIP-) Homologue
in the Fruitfly. 15th Congress of the European NeuroEndocrine Association Vol.
Austrian Journal of Clinical Endocrinology and Metabolism 56 (Vienna, Austria,
2012).
Aflorei, E.D. et al. AIP (aryl hydrocarbon receptor-interacting protein)-homologue in
the fruitfly in William Harvey Research Institute Day (London, UK, 2012).
Aflorei, E.D. et al. Development of novel AIP (Aryl Hydrocarbon Receptor Interacting
Protein) gene study models using the fruitfly and the zebrafish. 15th International
and 14th European Congress of Endocrinology (Florence, Italy, 2012).
Aflorei, E.D. et al. rs7566605 SNP of INSIG2 gene is not associated with the
polycystic ovary syndrome diagnosis and its phenotypic traits in Romanian subjects.
13th European Congress of Endocrinology, Rotterdam, The Netherlands 30 April - 4
May, P105 (2011).
Aflorei, E.D. et al. Systemic Lupus Erythematosus Revealing Graves ‘disease - Case
Report. The 5th National Congress of Neuroendocrinology with International
Participation, Poiana Brasov, Romania 27-29 May, P34 (2010).
Aflorei, E.D. et al. Study case-control for testing the association between SNP
rs7566605 of INSIG2 gene and obesity of Polycystic Ovary Syndrome. The 17th
Congress of Endocrinology of Romanian Society of Endocrinology, Sinaia, Romania
29-31 October (2010). - Oral Communication.
Conference abstracts, co-author:
Baciu, I. et al. Screening of AIP mutations in young Romanian patients with
sporadic pituitary adenomas. 15th International Congress of Endocrinology,
Florence, Italy 5-9 May (2012).
Baciu, I. et al. The R16H AIP gene mutation in a non-functioning pituitary adenoma
patient with mental retardation. 19th Romanian Congress of Endocrinology,
Bucharest, Romania 6-8 October, P2 (2011).
Radian, S. et al. Case–control study of 5-alpha reductase type 2 Val89Leu
polymorphism in Romanian PCOS patients. Society for Endocrinology BES 2011 11-
14 April, P282 (2011).
Radian, S. et al. Prevalence of RET mutations in medullary thyroid carcinoma
patients. The experience of tertiary Romanian Endocrinology Centre. The 19th
5. Curriculum Vitae. Elena Daniela AFLOREI, MD, MSc
National Congress of Endocrinology of Romanian Society of Endocrinology,
Bucharest, Romania 6-8 October, OC2 (2011).
Musat, M. et al. Genetic Screening for AIP in Pituitary Tumours in Romania-
Preliminary Report. The 19th National Congress of Endocrinology of Romanian
Society of Endocrinology, Bucharest, Romania 6-8 October, Symposia 1 (2011).
Baciu, I. et al. Clonality analysis of pituitary adenomas - a pilot study. 13th
European Congress of Endocrinology Rotterdam, the Netherlands 30 April - 4 May,
P266 (2011).
Baciu, I. et al. Clonality analysis of pituitary adenomas. Experimental protocol and
preliminary results. The 5th National Congress of Neuroendocrinology with
International Participation, Poiana Brasov, Romania 27-29 May, P28 (2010).
Musat, M. et al. Occult Hypothyroidism in Two Cases of Lingual Thyroid. The 5th
National Congress of Neuroendocrinology with International Participation Poiana
Brasov, Romania 27-29 May, P45 (2010).
Coculescu, M. et al. Association study of cag repeat polymorphism of the androgen
receptor with polycystic ovary syndrome (PCOS) in Romanian population. 19th
Annual Meeting and Clinical Congress of AACE Boston, Massachusetts 21-25 April,
P911 (2010).
Baculescu, N. et al. Shorter CAG alleles of androgen receptor are selectively
associated with hyperandrogenic phenotypes of polycystic ovary syndrome (PCOS) in
the Romanian population. The 5th National Congress of Neuroendocrinology with
International Participation, Poiana Brasov, Romania 27-29 May, OC5 (2010).
Musat, M. et al. A Tale To Tell: How Lupus Led To Graves' Disease. 12th European
Congress of Endocrinology Prague, 24-28 April, P247 (2010).
Radian, S. et al. CAG repeat alleles of the androgen receptor are associated with
polycystic ovary syndrome (PCOS) in the Romanian population. 12th European
Congress of Endocrinology, Prague 24 - 28 April, P498 (2010).
Radian, S. et al. The val89leu polymorphism of type 2 5-alpha reductase gene is not
associated with PCOS in the Romanian population. The 18th National Congress of
Endocrinology of Romanian Society of Endocrinology, Iasi, Romania 7-9 October,
OC9 (2010).
Radian, S. et al. Impact of Calpaina 10 gene on insulin resistance in polycystic ovary
syndrome in the Romanian population. The 4th National Congress of
Neuroendocrinology with International Participation, Bucharest, Romania 26-28
May, OC10 (2009).
Musat, M. et al. Cushing Syndrome in pregnancy - case report. The 17th Congress
of Endocrinology of Romanian Society of Endocrinology, Sinaia, Romania 29-31
October, P (2009).
Baculescu, N. et al. Association study of cag repeat polymorphism of the androgen
receptor with polycystic ovary syndrome. The 4th National Congress of
Neuroendocrinology with International Participation, Bucharest, Romania 26-28
May, OC12 (2009).
Research collaborations
Nick Brown PhD, Reader in Cell Biology, The Gurdon Institute, Department of
Physiology, Development and Neuroscience, University of Cambridge, UK
Reference: Dr Nick Brown, n.brown@gurdon.cam.ac.uk
Nic Tapon, PhD, London Research Institute, Lincoln’s Inn Fields Laboratories,
London, UK
Reference: Dr Nic Tapon, Nic.Tapon@cancer.org.uk
6. Curriculum Vitae. Elena Daniela AFLOREI, MD, MSc
Paulo Baptista Ribeiro, PhD, Centre for Tumour Biology, Barts Cancer Institute,
London, UK
Reference: Dr Paulo Ribeiro, p.baptista-ribeiro@qmul.ac.uk
Serban Radian, MD, PhD, Molecular Biology Laboratory of Endocrinology
Department, Medicine University Carol Davila, Endocrinology Institute CI Parhon,
Bucharest, Romania.
Reference: Dr Serban Radian, MD, PhD serban.radian@inserm.fr
Biomolecular Techniques
DNA, RNA extraction, RNA extraction from fly heads and brains
MS-PCR, RT-PCR, HRM-PCR, qPCR
Agarose / polyacrylamide gel electrophoresis, image acquisition and analysis
Automatically DNA Sequencing and microsatellite marker analysis on Beckman
CEQ8000 genetic analyser
Cell culture, transfection,
Generation of DNA expression plasmids: cloning from RNA, subcloning using
restriction enzymes, creation of restriction enzyme sites by PCR, site-directed
mutagenesis, plasmid production (bacterial transformation, minipreps, maxipreps).
In situ hybridization
Protein extraction, quantification, Western blotting
Generation of mutants using CRISPR/CAS9 system
Drosophila genetics and epistasis experiments, cell type specific RNAi and over
expression methodology using the Gal4-UAS system, and application of classical
mutants by imprecise excision of P elements
Generation of fruit flies FRT mutant clones in heterozygous flies
Mounting of pupal and adult Drosophila melanogaster wings on microscopic slides
Analysis of RNAseq data using the Ingenuity Pathways platform, online DAVID
software, STRING software.
Fluorescent and confocal microscopy: immunofluorescence for localisation of
proteins.
Software and Platforms: Vector NTI, Primer3, FlyBase, NCBI, UCSC Genome
Bioinformatics, Ensembl, Cluslaw, IGV Software
IT Skills
MS-Office Processors-Word, Excel, Power Point, Internet Applications
DNA/RNA/protein data base, primer design,
Panoramic Viewer
Adobe Photoshop, Illustrator CS6, Image J
JMP-in v.5.2 (SAS Institute) - basic
Reference Manager 12, EndNote X7
7. Curriculum Vitae. Elena Daniela AFLOREI, MD, MSc
Professional Membership
Member of The General Medical Council - Registration no: 7120692 (Full Licence
to practice)
Member of Society for Endocrinology
Member of The European Society of Endocrinology
Member of The Romanian Society of Endocrinology
Member of The Romanian Society of Clinical Endocrinologist
Courses and Certificates
Good Clinical Practice – Barts and The London School of Medicine (22 June 2010)
Good Clinical Practice – Barts and The London School of Medicine refresher
course (15th April 2014)
References
Marta Korbonits MD, PhD Professor of Endocrinology and Metabolism,
Department of Endocrinology, William Harvey Research Institute
Barts and the London School of Medicine, Queen Mary University of London
Charterhouse Square, London EC1M 6BQ
Tel +44 20 7882 6238, Fax +44 20 7882 6197, Secretary +44 20 7882 6196
Email: m.korbonits@qmul.ac.uk
Ralf Stanewsky, Professor for Neurobiology
UCL, University of London
511 Rockefeller Building
21 University Street, London, WC1E 6DE
Tel: +44(0)20-7679-6610
Email: r.stanewsky@ucl.ac.uk
Serban Radian, MD, PhD, Assistant Lecturer in Endocrinology, Coordinator of the
Molecular Endocrine Genetics Laboratory, Institute of Endocrinology “C.I.Parhon”,
Aviatorilor Blvd, no. 36, District 1, Bucharest, Romania
Tel: 0400213172041 ext 263, Fax: 00400318053955
Email: serban.radian@inserm.fr
Languages
English - proficient speaker, Living and studying in the UK from March 2011
Romanian- native speaker
Appendix - Short Synopsis of PhD:
Project title: “Application of a Drosophila melanogaster model to study Familial Isolated Pituitary
Adenomas syndrome pathogenesis in vivo”.
Introduction: A phenotypically distinct subgroup of familial isolated pituitary adenoma (FIPA) families
has a mutation in the aryl hydrocarbon receptor-interacting protein (AIP) gene leading to young-onset
8. Curriculum Vitae. Elena Daniela AFLOREI, MD, MSc
acromegaly in most of the patients.(Vierimaa, Georgitsi et al. 2006). These are typically large, invasive
and do not respond well to somatostatin analogue treatment.(Daly and Beckers 2008, Leontiou,
Gueorguiev et al. 2008) To date, more than 70 different AIP variants were published.(Beckers, Aaltonen
et al. 2013) While pathogenicity is beyond doubt for most of the nonsense and frameshift mutations,
missense variants can pose a challenging problem to determine if it is disease-causing or not. This would
have significant relevance in the management of the proband’s family.
Part 1: The Drosophila AIP orthologue (CG1847) is located on the X chromosome and encodes a protein
of similar size to the human protein (hAIP) containing the characteristic TPR domains. We have
generated CG1847 deficient flies via two methods: a) in vivo RNAi knockdown using two non-overlapping
RNAi lines; and b) imprecise excision of a transposable P-element located in the 5'-UTR of CG18479,
which generated a putative null allele of CG1847 via the deletion of its first 2 exons. Our data show that
knockdown and knockout of CG1847 results in lethality. The CG1847exon1_2 mutant is lethal in males and
homozygous females by 72h confirming that CG1847 is an essential gene. Heterozygous females are
viable. To functionally test the homology between hAIP and CG1847, we used the Gal4/UAS system to
perform rescue experiments using a UAS::hAIP construct. We subsequently tested whether wt hAIP, a
truncated humanAIP and four missense mutations identified in FIPA families (p.R16H, p.C238Y, p.A299V,
and p.304Q) could rescue the lethality of CG1847exon1_2 mutants by expressing UAS::hAIP under the
control of a ubiquitous promoter (i.e. actin) during fly development.
Part 2: Our data show that both the knockdown and knockout of CG1847 results in lethality (see above).
To reveal the potential underlying molecular mechanisms of loss of AIP, a whole transcriptome analysis
was performed using Illumina Next Generation Sequencing. We performed RNAseq in 48h old mutant
(CG1847exon1_2) or control male larvae isolated using fluorescent markers. This allowed us to determine
gene expression profiles using an established pipeline (Bowtie, TopHat, Cufflinks and Cummerbund
softwares) and to identify key pathways that are highly significantly altered in the mutant and are
related to embryonic development or survival.
Part 3: Interestingly, when we performed RNAi-mediated depletion of CG1847 using different wing-
specific promoters (nub-Gal4, hh-Gal4), we observed blistering in the wings (over 99% with nub-GAL4).
There are several mechanisms how blisters can develop in fruitfly wings and we have tested some of the
mechanisms by immunostaining. We also used RNAseq data to identify the affected pathways.