Monogenic diseases Samenvattingen, Aantekeningen en Examens

of relationship between genes and disease Strong insights, able to explain the roles of relevant organic molecules in carrying out important cellular activities, clear understanding of the central dogma Solution There is a strong connection between genes and diseases. Diseases can be classified into three types based on the contribution of genes- i) Monogenic disease- These are caused due to changes in a single gene. ii) Chromosomal- Deletions, duplications, presence of an extra ch...

NR 565 week 1 completed study guide Many questions are written to assess your clinical application of the material from the textbook, in real-world scenarios. Chapter 2: Review of Basic Principles of Pharmacology How new drugs are developed : the early part of the drug development process is called the preclinical stage. Identification of promising drugs and their testing in animals occur during this stage. Pharmaceutical companies will identify a drug target, starting sometimes w...

Exam (elaborations) NR 601 FINAL EXAM STUDY GUIDE of DM 1. Type 1- severe insulin deficiency resulting in reduction or absence of functioning beta cells in the pancreatic islets of Langerhans. This leads to hyperglycemia due to altered metabolism of lipids, carbs, and proteins. Initial s/s of hyperglycemia. Subjective findings- polyuria, polydipsia, nocturnal enuresis and polyphagia with paradoxical weight loss, visual changes and fatigue. Objective-dehydration(poor skin turgor and dry...

Exam (elaborations) NR 601 FINAL EXAM STUDY GUIDE (NR601) Week 5: Glucose metabolism disorders Types of DM 1. Type 1 - severe insulin deficiency resulting in reduction or absence of functioning beta cells in the pancreatic islets of Langerhans. This leads to hyperglycemia due to altered metabolism of lipids, carbs, and proteins. Initial s/s of hyperglycemia. Subjective findings- polyuria, polydipsia, nocturnal enuresis and polyphagia with paradoxical weight loss, visual changes and fatigu...

Reader samengevat; alle hoofdstukken behalve 12. H12 is namelijk self study en staat op brightspace.

Pathophysiology Exam 3 Study Guide Hematopoiesis ~9 Questions Distinct features of erythrocytes, what they do, how they do it. • RBCs: responsible for oxygen transport. o Once mature, have no or ganelles, no protein synthesis, do not go through mitosis. Discoid in shape, flexible structure. Life span changes, what happens as they age • Life span of 120 days, +- 20 days o Altered by conditions, decreased in certain conditions. o As RBCs age ▪ Lose flexibility ▪ Lysed or phagocytized ▪ R...

Complete summary of BBS1005 (Human Genetics, Reproduction and Prenata) year 2018-2019 Biomedical Sciences of Maastricht University. Contains: Gametogenesis, Gene regulation and cell signaling, DNA repair and monogenic diseases, Epigenetics, Stemcell therapy, MicroRNA, Cell cycle regulation, Body plan and segmentation, Gut development, Heart development, Implantation, Limb development, Apoptosis, Primary and secundary sex differentiation. A2 format.

Prep u Alteration in Genetics Question 1 See full question 1m 39s A woman is aware that she is the carrier of a sex-linked recessive disease (hemophilia A); her husband is free of the disease. What frequency of this disease could she expect to see in her children? .Question 2 See full question 16s The nurse is performing an assessment of a 6-year-old girl with Turner syndrome. What finding would the nurse most likely assess? Question 3 See full question 13s Girls with Turner syndrome ...

Samenvatting en uitwerking van alle colleges en verdiepingscolleges en een groot aantal PD's van thema 1 tm 3 van Cel tot Molecuul Geneeskunde jaar 1. Ondersteund met veel plaatjes en figuren ter verduidelijking van de stof.