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Phenylketonuria

Phenylketonuria

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

By Pat_Xavi
(492 views)

Table of Contents – pages iv-v

Table of Contents – pages iv-v

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.

By bernad
(1422 views)

Interpret a pedigree.

Interpret a pedigree.

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.

By inga
(412 views)

Introduction to Cystic Fibrosis

Introduction to Cystic Fibrosis

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

By yuri
(208 views)

Genetically Inherited Disorders

Genetically Inherited Disorders

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?

By harva
(194 views)

Chromosomal Basis of Inheritance

Chromosomal Basis of Inheritance

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”

By parley
(373 views)

LET’S PLAY “NORMAL OR ABNORMAL”!

LET’S PLAY “NORMAL OR ABNORMAL”!

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?

By ernie
(160 views)

Set up Cornell Notes on pg. 81 Topic: 7.4 Human Genetics and Pedigrees Essential Questions :

Set up Cornell Notes on pg. 81 Topic: 7.4 Human Genetics and Pedigrees Essential Questions :

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.

By dex
(495 views)

JOURNEYS

JOURNEYS

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).

By nolen
(165 views)

PRESCRIBING IN PAEDIATRIC CYSTIC FIBROSIS

PRESCRIBING IN PAEDIATRIC CYSTIC FIBROSIS

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 -.

By ichabod
(360 views)

Arterial blood gas measurement

Arterial blood gas measurement

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.

By myrna
(211 views)

Phenylketonuria

Phenylketonuria

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

By latika
(194 views)

HUMAN GENETICS

HUMAN GENETICS

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,

By ondrea
(8 views)

Mal-absorption syndrome

Mal-absorption syndrome

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

By emery
(359 views)

Protein Mutations in Disease

Protein Mutations in Disease

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.

By Leo
(159 views)

CYSTIC FIBROSIS

CYSTIC FIBROSIS

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

By Jims
(364 views)

Cystic Fibrosis

Cystic Fibrosis

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

By oakley
(179 views)

Pediatric Case Study Primary Ciliary Dyskinesia

Pediatric Case Study Primary Ciliary Dyskinesia

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.

By daisy
(362 views)

Factors that Influence Wellness

Factors that Influence Wellness

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.

By kordell
(160 views)

Hardy-Weinberg Problems

Hardy-Weinberg Problems

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).

By isolde
(569 views)

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