MAJOR EVENTS AND EVOLUTION IN CYSTIC FIBROSIS PATIENTS Author: Alexandra Martin Coordinator: Dr. Reka Borka Balas University of Medicine and Pharmacy Târgu-

Slides:

Advertisements

Similar presentations

Human Genetic Disorders

Advertisements

By: Ryan M. and Anthony L..

Cystic Fibrosis BY. MERCEDES.

CYSTIC FIBROSIS (CF). Symptoms  Incorrect folding of the the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein results in its destruction.

Cystic Fibrosis By: Brendon McGehee.

Cystic Fibrosis Cole Vincent. Symptoms Digestive Symptoms – intestinal blockage, poor weight gain and height growth Respiratory Symptoms – coughing, wheezing,

Cystic Fibrosis ROSA RODRIGUEZ. What is it?  Cystic fibrosis is a hereditary disease that affects the cystic fibrosis transmembrane conductance regulator.

By: Marki Wong and Rebecca den Hollander What is Cystic Fibrosis? It affects the mucus glands, causing problems in the lungs and pancreas, leading to.

Cystic Fibrosis Gina Brandl, RN BSN Nursing Instructor, Pediatrics.

Cystic fibrosis. Cystic fibrosis (CF) is an autosomal recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver,

Tiffany Rimmer.  CF is the most common lethal autosomal recessive genetic disease in Caucasians.  It affects over 30,000 individuals in the United States.

CYSTIC FIBROSIS FANOURAKI MARIA CHARALAMPIDOU ALEXANDRA

1 RETROSPECTIVE EVALUATION OF THE PATIENTS WITH CYSTIC FIBROSIS DR.LALE PULAT SEREN ZEYNEP KAMİL MATERNITY AND CHILDREN’S TRAINING AND RESEARCH HOSPITAL.

Cystic Fibrosis- is an inherited disease of the mucus glands that affects many body systems. It causes the mucus glands to create a thick and sticky mucus.

Cystic Fibrosis Sharon George PD.3. Cystic Fibrosis is inherited when the child inherits two mutated CFTR genes, one from each parent. The presence of.

Genetic Screening for Cystic Fibrosis A New Choice for You and Your pregnancy.

Berkeley Fial Michaela McNiff.  Someone gets Cystic Fibrosis when they inherit two mutated genes – one from each parent.  The CF gene is on chromosome.

Cystic Fibrosis Theresa Brady January 9, Cystic Fibrosis What is it? What is it? How do you get it? How do you get it? How can you be tested for.

By: Ruth Maureen Riggie

Cystic Fibrosis Bronte Short. What Cause Cystic Fibrosis? Cystic fibrosis, is an autosomal recessive hereditary disease that mostly affects the lungs,

By: Jennifer Novatt  Cystic Fibrosis is sometimes called “65 roses”.  The nickname came from a little boy who overheard his mom talking about the condition.

By Taliyah and Selina. Cystic Fibrosis CF Mucoviscidosis.

Patient: Lily Johnson Case study by Alexa Angelo

Genetic Diseases. Objectives  To recap genetic inheritance  To identify four genetic diseases  To review key factors to study  To propose research.

 To show examples of diseases inherited through dominant and recessive alleles.  To be able to correctly predict the outcome of various combinations.

CAUSES OF CYSTIC FIBROSIS CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This protein.

Sweat Test. A sweat test measures the amount of salt chemicals (sodium and chloride) in sweat. Sodium and chloride are part of your body’s electrolyte.

Pedigree definition  Pedigree: a family history that shows how a trait is inherited over several generations  Pedigrees are usually used when parents.

Genetic Testing. What is Genetic Testing? Analysis of human DNA, chromosomes and/or proteins Analysis of human DNA, chromosomes and/or proteins Used to:

POSITIONAL CLONING TWO EXAMPLES. Inheritance pattern - dominant autosomal Entirely penetrant and fatal Frequency - about 1/10,000 live births Late onset.

Unit 5 – Public Health Chronic Diseases

You already know… - A chromosome is a structure that carries genetic information Each cell normally has 23 pairs of chromosomes: 1 pair of sex chromosomes.

Favoring factors of deficiency diseases in children Author: Andreea-Iulia Csiszer Coordinator: Dr. Reka Borka Balas University of Medicine and Pharmacy,

.  Pancreas is a large gland  Involved in the digestive process but located outside the GI tract  Composed of both exocrine and endocrine functions.

Cystic fibrosis is an inherited disease that causes thick, sticky mucus to build up in the lungs and digestive tract.

Cystic Fibrosis Hereditary recessive trait disease

Cystic Fibrosis Autosomal recessive Faulty gene causes mucus to build up in lungs, –Become infected Lung damage usually causes early death Treatments:

URINARY TRACT INFECTION: DIAGNOSIS AND MANAGEMENT OF THE INITIAL UTI IN INFANTS 0 TO 12 MONTHS Author: Oana Andrea Edina Coordinator: Dr. Duicu Carmen,PhD,

Objectives Review the causes of cystic fibrosis (CF) Describe the symptoms and laboratory findings in CF Review current and emerging CF treatments Review.

Science of Life CNU1. Many serious genetic diseases can be traced to ion channel mutations in the gene encoding protein Science of.

Prognostic factors in systemic lupus erithematosus Author: Nicoleta Roman Cooauthor: Anicua-Ionela Morar Coordinator: Lecturer Dr. Monica Copotoiu U.M.F.

Chapter 2 Health During Infancy Child Hood Dr. Areefa Albahri.

Cystic Fibrosis Lela Biggus pd. 8.

Rob Krug. CF is caused by a mutation in the gene “cystic fibrosis transmembrane conductance regulator” (CFTR). This gene is important in creating sweat,

A GENETIC, CHRONIC, AND LIFE-THREATENING DISEASE THAT CAUSES THICK, STICKY MUCUS TO BUILD UP IN THE LUNGS, DIGESTIVE TRACT, AND OTHER AREAS OF THE BODY.

CYSTIC FIBROSIS AND CELL COMMUNICATION. CFTR Cystic Fibrosis Transmembrane Conductance Regulator ( Or CFTR)  Is a transport protein for Chloride across.

Cystic Fibrosis.

Cystic Fibrosis By: Jenna Mahoney and Jake Tuyls.

Cystic Fibrosis A defect in a gene called the cystic fibrosis trans-membrane conductance regulator gene.

Bronchiolitis Abdullah M. Al-Olayan MBBS, SBP, ABP. Assistant Professor of Pediatrics. Pediatric Pulmonologist.

CCystic Fibrosis is an inherited chronic disease IIt affects the lungs and digestive system SSymptoms IIt clogs the lungs with phlegm and causes.

Cystic Fibrosis and Termination of Pregnancy Jalandria Gurley, MS, FNP-BC Texas Woman’s University.

Cystic Fibrosis- Case #555555S The A. Smith Family Thad Estes.

Other names for cystic fibrosis are CF, Pancreas fibrocystic disease, and Pancreatic cystic fibrosis. The name was chosen because cystic means biliary.

By: Paige Whalen and Alex Ung.  Mutation in the gene called cystic fibrosis transmembrane conductance regulator.  Due to loss of chromosome, located.

BY: TERESA KRASZEWSKI CYSTIC FIBROSIS. BACKGROUND AND HISTORY Late 16th century babies who had “salty skin” when kissed were likely to die 1938 Dr. Dorothy.

Cause Symptom Treatment Problem Conclusion Questions.

Genetic Diseases. Analytical methods for the identification of genetic disease play an important part in the pediatric clinical chemistry laboratory.

PARANASAL MUCOCELE IN CYSTIC FIBROSIS CHILDREN °Di Cicco M. MD *Costantini D.MD. *Colombo C.MD °Otorhinolaryngology Dept., *Pediatrics Dept. CF Centre,

Lauren Haber CYSTIC FIBROSIS.  A life-threatening genetic disease, which affects the lungs, digestive system and reproductive system  Caused by a defective.

Cystic Fibrosis By:YaYPhineas(Edward). What is Cystic Fibrosis? A genetic disorder that affects your digestive and respiratory system You inherit a defective.

Cystic fibrosis. Etiology and epidemiology Cystic fibrosis (CF) is an autosomal recessive disorder that is the most common life limiting genetic disease.

By: Jane Xu and Alexandrea Gosnell 7-5. What is CF? Cystic Fibrosis is an inherited disease. It causes thick mucus to get stuck in your lungs causing.

Cystic Fibrosis By: Tamaryn Cortes.

Cystic Fibrosis By James Gray 2012.

Cystic Fibrosis By: Sharan Kaur.

CYSTIC FIBROSIS (CF) © 2016 Paul Billiet ODWS.

Cystic Fibrosis Bryan Chua.

Genetic testing and screening are two different things.

Presentation transcript:

MAJOR EVENTS AND EVOLUTION IN CYSTIC FIBROSIS PATIENTS Author: Alexandra Martin Coordinator: Dr. Reka Borka Balas University of Medicine and Pharmacy Târgu- Mureş

INTRODUCTION Cystic fibrosis (CF) or mucoviscidosis, is the most common autosomal recessive disease among caucasians. Mutations in a gene on the long arm of chromosome 7, responsible for encoding and regulating clor transmembrane conductance regulator (CFTR). Deficiency of CFTR leads to clinical manifestations. Respiratory tract secretions are dehydrated. The extremely viscous mucus causes airway obstruction and secondarily infection. The mutation leads to chronic fat malabsorption and malnutrition.

CF GENETIC ETIOLOGY, PRENATAL COUNSELING AND NEONATAL SCREENING

OBJECTIVE Highlight the most important clinical manifestations of patients diagnosed with CF. Follow up of clinical evolution of CF patients.

MATERIAL AND METHOD Retrospective study between on 22 cases diagnosed with CF in Pediatric Clinic 1 Târgu- Mureş. The data were analyzed with chi-square test.

MATERIAL AND METHOD FOLLOWED PARAMETERS Personal and family history. Clinical assessment: signs and symptoms. Laboratory evaluation. Interval between the occurrence of clinical manifestations and diagnosis. Number of hospitalization days.

FAMILY HISTORY OF CF PATIENTS

PATIENTS AVERAGE AGE AT CF DIAGNOSIS

SWEAT TEST

SWEAT TEST RESULTS

CLINICAL FORMS OF CF

MAIN RESPIRATORY SIGNS AND SYMPTOMS

REPEATED PNEUMONIA

MAIN DIGESTIVE SINGS AND SYMPTOMS

PATIENTS AGE AT ONSET OF FIRST SYMPTOMS

AVERAGE DAYS OF HOSPITALIZATION

PATIENTS ADHERENCE TO CF FOLLOW-UP

CONCLUSIONS Prenatal counseling is essential for carrier couples of CFTR mutation, or parents with children diagnosed with CF. Neonatal screening for CF should be a part of the early diagnosis of the disease, in order to establish a treatment to prevent the complications. Identifying the evocative signs and symptoms of the disease, ensures a proper and early diagnosis. The quality of life in patients with CF has improved significantly due to early diagnosis and treatment. Frequent and prolonged hospitalizations, the cost of chronic treatment. Patients low adherence to regular monitoring and to the reevaluation of general condition. Complications and lack of etiologic therapy, causes still low life expectancy of these patients.

THANK YOU FOR YOUR ATTENTION!