Most patients with chronic myelogenous leukaemia can be treated with tyrosine kinase inhibitors. These drugs are highly effective and lead to deep remission and prolonged survival. Yet quiescent leukaemic stem cells persist in these patients, and they therefore must continue inhibitor treatment to maintain remission.
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According to the paper now available online, TP53 is the most frequently mutated gene in triple negative breast cancer, meaning it is fuelling the growth of this aggressive form of breast cancer. However, the problem with trying to target mutated TP53, specifically, is that it is not a druggable target, because of its potential toxicity – or ability to kill – nearby healthy cells.
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Vasopressors are medications that causes vasoconstriction; some of them have additional inotropic effect. By maintaining end-organ perfusion; the role of vasopressors remains critical to prevent irreversible organ injury and failure, and their use is usually accompanied by fluid resuscitation for adequate patient outcomes. Vasopressor agents are used clinically in the treatment of arterial hypotension in shock states. Shock is best defined as inadequate blood flow to meet the metabolic needs of the tissues. The most common reasons for shock are the cardiac output is low relative to the global demand, despite increased O2 extraction by the tissues; or perfusion pressure is inadequate such that blood flow distribution to metabolically active tissues is inadequate, despite an otherwise adequate cardiac output.
Continue reading1. Jentzer JC, Coons JC, Link CB, Schmidhofer M. Pharmacotherapy update on the use of vasopressors and inotropes in the intensive care unit. Journal of cardiovascular pharmacology and therapeutics. 20(3):249-60. 2015.
2. Senz A, Nunnink L. Review article: inotrope and vasopressor use in the emergency department. Emerg Med Australas. 2009 Oct;21(5):342-51.
3. Bangash MN, Kong ML, Pearse RM. Use of inotropes and vasopressor agents in critically ill patients. Br J Pharmacol. 2012 Apr;165(7):2015-33.
4. Tisdale JE, Patel RV, Webb CR, Borzak S, Zarowitz BJ. Proarrhythmic effects of intravenous vasopressors. Ann Pharmacother. 1995 Mar. 29(3):269-81.
5. Hollenberg SM. Vasoactive drugs in circulatory shock. American journal of respiratory and critical care medicine. 183(7):847-55. 2011.
Dr Bedei, Dr Delisle, Dr Hofmann-Werther, and Dr Pour Mirza highlight how to treat abnormal menstrual bleeding in adolescents.
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Deborah Kobewka, Managing Director of Healthcare UK, shares insights from the UK’s National Health Service, on how healthcare authorities and operators in the Gulf states can build, design, and operate the ‘Hospital of the Future’.
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Dr Ivonne Bedei, Dr Amelie Hofmann-Werther, and Dr Afshin Pour Mirza provide detailed information about the prenatal diagnosis of Turner syndrome.
Continue reading2. Sävendahl L, Davenport ML. Delayed diagnosis of Turner´s syndrome: proposed guidelines for change. J Pediatr. 2000;137(4):455-459).
3. Dondorp W, de Wert G, Bombard Y, et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet. 2015;23:1438-1450.
4. Schmid M, Klaritsch P, Arzt W, Burkhardt T, Duba H, Häusler M, et al. Cell-free DNA testing for fetal chromosomal anomalies in clinical practice: Austrian-German-Swiss recommendations for non-invasive prenatal tests (NIPT). Ultraschall Med – Eur J Ultrasound 2015;36:507–10).
5. Murdock DR, Donovan FX, Chandrasekharappa SC, Banks N, Bondy C, Muenke M, et al. Whole-exome Sequencing for Diagnosis of Turner syndrome: Towards Next Generation Sequencing and Newborn Screening. J Clin Endocrinol Metab. 2017
6. Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner´s syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet. 1983;64:24-7
7. Alpman A, Cogulu O, Akgul M, Arikan EA, Durmaz B, Karaca E, Sadol S, Ozkinay C, Ozkinay F 2009 Prenatally diagnosed Turner syndrome and cystic hygroma: incidence and reasons for referrals. Fetal Diagn Ther 25:58-61)
8. Bondy C. Recent Developments in Diagnosis and Care for girls with Turner syndrome. Advances in Endocrinology Volume 2014, Article ID 231089.
9. Ibarra-Ramirez M, Martinez-de-Villareal LE. Clinical and genetic aspects of Turner´s syndrome. Medicina Universitaria. 2016;18(70):42-48).
10. Viuff MH, Stochholm K, Uldbjerg N, Nielsen BB, the Danish Fetal Medicine Study Group, and Gravholt CH. Only a minority of sex chromosome abnormalities are detected by a national prenatal sceening program for Down syndrome.Human Reproduction, Vol.30, No 10pp.2419-2426,2015).
11. Sybert VP, McCauley E. Turner´s Syndrome N Engl J Med 2004; 351:1227-1238,
12. Chang HJ, Clark RD, Bachman H. The Phenotype of 45,X/46,XY Mosaicism: An Analysis of 92 Prenatally Diagnosed Cases. Am. J. Genet. 46:156-167, 1990).
13. Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2017; 50:302-314).
14. Reiss RE, Discenza M, Foster J, Dobson L, Wilkins-Haug L. Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous? Prenatal Diagnosis 2017, 37; 515-520
15. Grati FR, Bajaj K, Zanalfa V, Malvestiti F, Malvestiti B, Marcato L. Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies. Prenatal Diagnosis 2017. 37. 1017-1027).
16. Malvestiti F, Agrati C, Grimi B, et al. Interpreting mosaicism in chorionic vili: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis. Prenatal Diagnosis 2015, 35, 1117-1127)
17. Russell LM, Strike P, Browne CE, Jacobs PA. X Chromosome loss and aging. Cytogenet Genome Res 116:181-185(2007).
18. Zhang B, Lu B-Y, Zheng F-X, Zhou Q, Cheng Y-P, Zhang X-Q. Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood. J Med Res. 2017 Apr; 45(2): 621-630.
19. Bevilacqua E, Ordonez E, Hurtado I, Rueda L, Mazzone E, Cirigliano V, Jani JC. Screening for Sex Chromosome Aneuploidy by Cell-Free DNA Testing: Patient Choice and Performance. Fetal Diagn Ther DOI: 10.1159/000479507.
20. Chitty LS, Hudgins L, Norton ME. Current controversies in prenatal diagnosis 2: Cell-free DNA prenatal screening should be used to identify all chromosome abnormalities. Prenatal Diagnosis. 2018;38:160-165)
21. Samango-Sprouse C, Banjevic M, Ryan A, Sigurjonsson S, Zimmermann B, Hill M, Hall MP, Westmeyer M, Saucier J, Demko Z, Rabinowitz M. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. Prenat Diagn. 2013 July; 33(7): 643-649.
22. Bronstein M, Zimmer EZ & Blazer S. A characteristic cluster of fetal sonographic markers that are predictive of fetal Turner syndrome in early pregnancy. American Journal of Obstetrics and Gynecology 2003 188 1016-1020.
23. Gravholt CH et al. Clinical practice guideline for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner syndrome Meeting. European Journal of Endocrinology 2017;177:3 G1-G70).
According to a Harvard Medical School study, having even a slightly underactive thyroid may interfere with a woman’s ability to get pregnant. Dr Hina Naveed provides further information about thyroid diseases and fertility.
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Dr Hoda, attended the 2018 Falling Walls international conference on future breakthroughs in science and society in Berlin, Germany. Along with other 20 eminent participants from various backgrounds and expertise; she was invited to discuss the LifeTime initiative vision from different angles.
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Ahmed Salem provides an overview of chromosome aberrations, including: Down syndrome, Edwards syndrome, Turner syndrome (xo) syndrome, Klinefelter syndrome, Triple X syndrome, Williams syndrome, 22q11.2 deletion syndrome, and Tetraploidy.
Continue reading2. NDSS. (2019). What is Down Syndrome? | National Down Syndrome Society. [online] Available at: https://www.ndss.org/about-down-syndrome/down-syndrome/
3. nhs.uk. (2019). Patau’s syndrome. [online] Available at: https://www.nhs.uk/conditions/pataus-syndrome/
4.Trisomy 13. [online] Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/trisomy-13#genes
5. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/trisomy-18#statistics
6. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/turner-syndrome
7.Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/klinefelter-syndrome#genes
8. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/triple-x-syndrome
9. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/williams-syndrome
10. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome#genes
11. https://rarediseases.info.nih.gov/diseases/5151/tetraploidy
Whilst volunteering in a refugee camp, Brian de Francesca’s mission became clear; to use telemedicine, AI, and blockchain to help 65 million global refugees.
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