'Cystic fibrosis' presentation slideshows

Phenylketonuria. a) Metabolic block. b) Autosomal recessive . c) Pleiotropism. d) Variable expressivity. e) Effective treatment. f) Screening. Symptoms:(Untreated). 1) Anatomical. Microcephaly (small head) Hypopigmentation (fair eyes, skin, hair). 2) Neurological. Seizures

Table of Contents – pages iv-v. Unit 1: What is Biology? Unit 2: Ecology Unit 3: The Life of a Cell Unit 4: Genetics Unit 5: Change Through Time Unit 6: Viruses, Bacteria, Protists, and Fungi Unit 7: Plants Unit 8: Invertebrates Unit 9: Vertebrates Unit 10: The Human Body.

Section Objectives:. Interpret a pedigree. Identify human genetic disorders caused by inherited recessive alleles. Predict how a human trait can be determined by a simple dominant allele. Making a Pedigree. A family tree traces various family members through successive generations.

Introduction to Cystic Fibrosis. Single gene Mendelian disorder Gene codes for the Cystic Fibrosis Transmembrane Conductance Regulator protein (CFTR). CFTR. Transmembrane Cl - channel protein Gene located on human chromosome seven More than 1400 alleles with diminished function

Genetically Inherited Disorders. What are genetically inherited disorders? What is cystic fibrosis? What is sickle cell anaemia?. Inherited Disorders. What causes diseases such as measles and flu? Microorganisms (bacteria & viruses) What causes cancer?

Chromosomal Basis of Inheritance. Chapter 7. Objectives. Be familiar with patterns of inheritance for autosomal and sex linked genes Understand the concept of “Linked Genes”

LET’S PLAY “NORMAL OR ABNORMAL”!. Joel Thompson, MSIII November 13, 2008. And Now, Your History…. 18 yo F with “Cough increased known *pulmonary disease* patient” What primary chronic pulmonary diseases commonly affect the pediatric population?

7.4 Human Genetics and Pedigrees. 2.1 Atoms, Ions, and Molecules. Set up Cornell Notes on pg. 81 Topic: 7.4 Human Genetics and Pedigrees Essential Questions : 1. NO EQ. KEY CONCEPT A combination of methods is used to study human genetics.

JOURNEYS. Marianne Phillips August 2011. PAEDIATRIC PALLIATIVE CARE:. 1 in 1000 children aged 0-18 years have a life-limiting illness 1 in 10,000 children aged 0-18 years die each year from life-limiting illness. Types of life-limiting illness: (ACT & RCPCH 2003).

PRESCRIBING IN PAEDIATRIC CYSTIC FIBROSIS. The child will soon die, whose brow taste salty when kissed (18 th century). Commonest genetic disease in Europeans 5% of us are carriers 1 in 2,000 births. Biochemical defect in cystic fibrosis. Exocrine gland cell membrane. Cl -. Cl -. Cl -.

Arterial blood gas measurement. Dr .Aya Abdel Dayem. Acid base balance. Normal PH 7.35-7.45 ِ A PH <7.35 acidosis A PH>7.45 alkalosis. Arterial blood gas measurement. 1- Pao2=13 kpa PaCO2=5 kpa PH=7.39 a) Identify ABG b) Diagnosis normal.

Phenylketonuria. a) Metabolic block. b) Autosomal recessive . c) Pleiotropism. d) Variable expressivity. e) Effective treatment. f) Screening. Symptoms:(Untreated). 1) Anatomical. Microcephaly (small head) Hypopigmentation (fair eyes, skin, hair). 2) Neurological. Seizures

HUMAN GENETICS. Genetic disorders- common cause of diseases, prolonged handicap and death in human. 1% newborns have monogenic diseases like CF, SCD etc. 0.5% have chr . disorders like Down Synd. 1-3% have multifactorial disorders like CHD,

Mal-absorption syndrome. Malabsorption syndrome  refers to a number of disorders in which the intestine can't adequately absorb certain nutrients into the bloodstream.

Protein Mutations in Disease. Lecture 11, Medical Biochemistry. Lecture 11 Outline. Four examples of protein mutations that lead to altered function and disease complications will be discussed: 1. Sickle Cell Anemia 2. p53 Tumor Suppressor 3. Ras p21 Oncogene.

CYSTIC FIBROSIS. Tyra Bradbury, MPH,RD,CSP Neonatal/Pediatric Dietitian. Outline . Arizona Newborn Screening Definition Diagnosis Nutrition Estimated calories and protein needs Salt Enzymes Types and dosing CF related issues. Outline. Resources Families Websites CF centers

Cystic Fibrosis. Taken from Deturk W, Cahalin L. Cardiovascular and Pulmonary Physical Therapy. An Evidence-based Approach. United States of America:McGraw-Hill Companies Inc;2004:465-467. Cystic Fibrosis. An inherited, autosomal recessive disease

Pediatric Case Study Primary Ciliary Dyskinesia. Marion Viglietta UMD College Park Dietetic Intern. Objectives. Overview of Primary Ciliary Dyskinesia Assessment of Patient PES Statement and Needs Plans & Goals Evaluation and Follow-Up. Primary Ciliary Dyskinesia.

Factors that Influence Wellness. Health Education. Factors that Influence Wellness. Health Habits Heredity/Family History Environment Access to Health Care Attitude Media/Technology. Health Habits. Daily health choices and behaviors.

Hardy-Weinberg Problems. Problems 1, 2 and 4 from http://nhscience.lonestar.edu/biol/hwe.html Problem 3 from http://science.kennesaw.edu/~rmatson/Biol%203380/PROBLEMS.html. Hardy-Weinberg Problems. 1. Scientists observe that 9% of an African population is born with sickle-cell anemia (ss).