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Please feel free to chat amongst yourselves until we begin at the top of the hour. 1 Seminar Agenda Project Guidelines The Respiratory System Discussion Review of other diseases caused by tissue or cellular dysfunction 2 Tay-Sach’s Disease Mutated genes produce enzymes that are not as effective at breaking down fatty cell products known as gangliosides. The gangliosides then build up in the lysosomes and ultimately causes damage to nerve cells. Review of Course Information: Projects There are 2 Projects. Each project has two parts. Project 1 is due at the end of Units 3 and 5 and Project 2 is due at the end of Units 7 and 9. Some guidelines: Use Microsoft Word Be sure to complete all parts of the assignment Use clear and concise language and proofread your work. Your work should be free of spelling and grammatical errors. 4 Unit 3-5 Project: Histology Topic Proposal: The topic should be on any of the systems covered in part 1 of this course (Histology) and be either a tissue or organ. For the tissue or organ that you selected, you should: Describe the histological characteristics of the tissue or organ. Correlate the structural characteristics of the tissue with their function. Discuss the importance of histological characteristics of the tissue or organ to the body function as a whole. 5 Unit 3-5 Project: Histology NOTE: Topic Choice, Outline and List of References are due at the end of Unit 3: 30 points Your outline should be detailed and describe the three required areas: 1. Describe the histological characteristics of the tissue or organ. 2. Correlate the structural characteristics of the tissue with their function. 3. Discuss the importance of histological characteristics of the tissue or organ to the body function as a whole. Complete Paper (Part 1; Histology) due at the end of Unit 5: 150 points 6 Unit 3-5 Project: Histology Topic Proposal due in Unit 5: The title page should contain the title of the paper, your name and course details. The body of the write-up should begin on page 2, and the references should start on a new page at the end of the essay. The text portion of your project should be between 5-7 pages long. Your final project should be properly formatted to include subtitles if appropriate, written with Times New Roman, Arial or Calibri fonts, size 12 on letter-size paper with 1-inch margins. The completed project must be uploaded to dropbox by the end of Unit 5. 7 Any questions? 8 Hirschsprung’s disease Mature neurons are present in the gut These are derived during development from a stem cell population called neural crest cells Hirschsprung’s disease Affects 1 in 5000 newborns The neural network of the colon does not form Colonic ganglia or ganglion of the myenteric plexus do not form As a result, portions of the colon do not contract The colon becomes overfilled with material and is very painful and debilitating 9 Questions 10 Respiratory System Discussion Questions 11 Discussion Questions A 60 year old man who has never smoked developed a persistent cough and sometimes wheezes when he breathes. What tests should be ordered to evaluate his condition? What tests should be ordered to evaluate his condition? Chest radiograph (Xray) Blood work CT scan MRI Intrabronchial lavage with saline can recover cells that can be examined microscopically to determine a specific diagnosis. What is the most likely diagnosis of his condition? What is the most likely diagnosis of his condition? Lung cancer Often associated with smokers Nonsmokers can develop lung cancer from second-hand smoke or other airborne or nonairborne causes. Types of lung cancer Adenocarcinomas – derived from epithelial cells of bronchi or bronchioles Mesotheliomas – derived from mesothelial connective tissue and epithelial membrane around the lungs More rare and more aggressive How do you distinguish between the two cancers under the microscope? What treatments are available, and what type of prognosis can be expected? Marfan’s Syndrome Text micrograph What treatments are available, and what type of prognosis can be expected? Irradiation or Chemotherapy (damage DNA of rapidly dividing cancer cells) 5 year survival rates after treatment for adenocarcinoma are reasonably good, but less so for mesothelioma. Osteogenesis Imperfecta Brittle bone disease A congenital disease present at birth Caused by defect in gene that produces type 1 collagen Autosomal dominant - you will have the disease if you have only one copy of the gene OI is either inherited from a parent or the result of new genetic mutation. A person with OI has a 50% chance of passing on the gene and the disease to their children. Scurvy Radiograph showing osteopenia, a characteristic of scurvy. Caused by a deficiency in Vitamin C More prevalent than you think due to high consumption of frozen foods (which destroys the Vitamin C) Tissue Types in the Body Epithelial Connective Nervous Muscle Remember – each of these tissue types is made up of many types of cells & each organ is comprised of several tissues types Next…..Diseases from problems of the tissues Gaucher’s Disease Abnormal accumulation of histiocytes – which are specialized macrophages to rid the cell of foreign material http://www.youtube.com/watch?v=0nX6QM5iVaU I-cell & Hurler’s I-cell disease is an inherited condition that resembles Hurler's disease but without the excessive urinary mucopolysaccharide excretion. Usually diagnosed in early infancy mental retardation and death from respiratory infection in infancy or early childhood. http://webhome.idirect.com/~brainology/brainology/ devpath_271_lysosomal.html Formation of lysosomal vacuoles Histopathology of Hurler’s Zebra bodies form in the nervous tissue appearance of ganglioside-containing lysosomes Increased lipopigments in neurons Lysosomal storage in nearly every organ and cell Hurler’s Disease type lysosomal storage begins before birth mental retardation skeletal deformities coarse face, short stature milder forms can be delayed Mucopolysaccharidoses Lysosomal vacuoles Pearson’s Syndrome In 1979, Pearson et al described a previously unrecognized, often fatal disorder of infants with transfusion-dependent anemia and exocrine pancreatic insufficiency. Caused by large deletions of the mitochondrial genome Pearson syndrome is defined as mitochondrial cytopathy. Adrenoleukodystrophy (ALD, also called Siemerling-Creutzfeldt Disease or Addison-Schilder's disease[1] Inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD strips away myelin, a protective sheath surrounding nerve cells. myelin loss is due to an overload of long chain fatty acids that the body cannot dispose of. When this happens, the affected loses body functions and eventually processes such as respiratory function leading to death Possible treatment of ALD using gene therapy Discussion Questions Describe the microscopic structure of the alveoli and alveolar septum. What happens to these alveoli in a patient suffering from emphysema? Emphysema http://www.jeremyswan.com/anatomy/204/html/09.html Any questions? Inherited structural and functional abnormalities ICSaffecting – Immotile Cilia Syndrome the cilia of the respiratory tract mucosa and other organs.