...Achondroplasia Achondroplasia is a genetic disorder of bone growth and causes the most common type of dwarfism. The word achondroplasia literally means “without cartilage formation”. It is also known as chondrodystrophies or osteochondrodysplasias. It occurs in one in every 15,000 to one in 40,000 live births. Symptoms of the disorder include abnormal hand appearance with persistent space between the long and ring fingers, a disproportional head-to-body ratio, prominent forehead and a mid-face hypoplasia, shortened arms and legs and a shortened stature. Infants born with achondroplasia typically have weak muscle tone (hypotonia), which delays walking and other motor skills. Health issues can also include obesity and recurrent ear infections. People with achondroplasia commonly have breathing problems in which breathing stops or slows down for short periods (apnea). Besides the symptoms mentioned above, adults suffering from achondroplasia may develop a pronounced and permanent sway of the lower back (lordosis) and bowed legs, leading to difficulty in walking. Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene found in chromosome #4. The 2 copies of FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. During a baby’s development, the cartilage serves as a temporary or embryonic skeleton for a developing bone. This cartilage model, which is made up of hyaline cartilage will undergo...
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...Notes Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult. People with achondroplasia are short in stature with a normal sized torso and short limbs. It is the most common type of disproportionate dwarfism. Achondroplasia is a disorder of bone growth. It is the most common form of disproportionate short stature. It occurs in one in every 15,000 to one in 40,000 live births. Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. FGFR3 is the only gene known to be associated with achondroplasia. All people who have only a single copy of the normal FGFR3 gene and a single copy of the FGFR3 gene mutation have achondroplasia. Most people who have achondroplasia have average-size parents. In this situation, the FGFR3 gene mutation occurs in one parent's egg or sperm cell before conception. Other people with achondroplasia inherit the condition from a parent w Is achondroplasia inherited? Most cases of achondroplasia are not inherited. When achondroplasia is inherited, it is inherited in an autosomal dominant manner. Over 80 percent of individuals who have achondroplasia have parents with normal stature and are born with achondroplasia as a result of a new (de novo) gene alteration (mutation). These parents have a small chance of having...
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...Adam Williams 04/10/2013 Achondroplasia Achondroplasia is a form of short-limbed dwarfism. It occurs in 1 in 15,000 to 40,000 new borns. It is inherited in an autosomal dominant pattern. This means one copy of the altered gene in each cell is sufficient to cause the disorder. Mutations in the FGFR3 gene cause achondroplasia. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. There are two specific mutations in the FGFR3 gene that are responsible for almost every case of achondroplasia. These mutations cause protein to be overly active, which interferes with skeletal development and leads to disturbances in bone growth for people with this disorder. The word achondroplasia literally means “without cartilage formation.” Cartilage makes up most of the skeleton during early development, and for people with achondroplasia, the problem is converting the cartilage to bone especially the longer bones of the arms and legs. All people with achondroplasia have short stature. The average height of an adult male with achondroplasia is 4 feet, 4 inches. And the average height for adult females is 4 feet, 1 inch. The characteristic features of people with achondroplasia include an average sized mid section, short arms and legs, limited range of motion at the elbows, and an enlarged head. Their fingers are usually short as well. They usually have a normal intelligence level, however there...
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...Disease Achondroplasia is the most frequent form of short-limb dwarfism (Nahar R et al 2009). As well as short stature due to shortening of limbs, affected individuals have characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum and trident-like hands. Incidence increases with paternal age. Achondroplasia is caused, in virtually all of the cases, by a G380R mutation in fibroblast growth factor receptor 3 (FGFR3) (Di Rocco F et al 2014). FGFR3 is also important in craniofacial, vertebral and neurological development such that this mutation has multiple effects in an affected individual (Horton WA et al 2007). Clinical Presentation Gross motor development frequently is delayed. Motor milestones such as head control and independent sitting, standing, and ambulation may lag by 3-6 months. Speech and language problems may be caused by tongue thrust (due to abnormal maxillomandibular relationship) but often resolve spontaneously. Twenty percent of patients experience delayed speech acquisition. Cognitive skills are preserved, and the intelligence level is within normal limits. Cranial enlargement and poor head control place the infant at risk for extension injuries. An Australian study assessed the functional milestones of achondroplasia children aged 3-7 years. The data noted that while milestones were delayed across all ages studied, functioning improved between age 3 and 5 years, although not...
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...Sickle Cell 1. Sickle Cell disease are genetic disorders resulting from the presence of a mutated of a form of hemoglobin, and found in commonly in North America is homozygous disease, an autosomal recessive disorder first described by Herrick in 1910 and causes significant morbidity and mortality, particularly in African people and Mediterranean ancestry. 2. Approximately half the individuals with homozygous HbS disease experience vaso-occlusive crises. The frequency of crises is extremely variable. Some individuals have as 6 or more episodes annually, whereas others may have episodes only at great intervals or none at all. Each individual typically has a consistent pattern for crises frequency. And occur in children that are carriers inherit the sickle cell disease from both parents. 3. Because the genetic disorder is completely recessive, a person with only one SCS alleles and on unaffected allele will have a mixed phenotype and won’t suffer the experience the ill effects of the disease and yet still poses a sickle cell trait. If two carriers will have 25% chance of disease and 50% a child will be a carrier. 4. It will be caused by the presence of two incompletely recessive red blood cells are exposed to low-oxygen conditions, cells lose their healthy round shape and become sickle cell shaped. 5. Everyone is carriers of genes that are responsible for creating hemoglobin. 6. I would just be honest with the couple and make them understand all about...
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...Dwarfism Dwarfism is a medical condition that affects roughly one in every ten thousand children born in America. The Little People of America defines dwarfism as male or female adult to attain a height of four feet ten inches or shorter. The most common type of dwarfism is Achondroplasia. Dwarfs, or little people, still live fairly normal lives. Most dwarfism-related conditions are genetic disorder, but the causes of some are unknown. Most occurrences result from a random genetic mutation in the mother’s egg or the father’s sperm rather than from either parent’s complete genetic makeup. Achondroplasia is the most common type of dwarfism. Infants born with achondroplasia typically have an arched skull to accommodate an enlarged brain. This results in a broad forehead, low nasal bridge, arms and legs are very short, and the trunk of the body appears long in comparison. Achondroplasia does not affect cognitive and mental abilities. Doctors are able to diagnose most cases of achondroplasia even before birth. The ultrasound can show if a baby’s legs and arms are shorter than average and if the baby’s head is larger. Another type of dwarfism is Spondyloepiphyseal dysplasia. Spondyloepiphyseal dysplasia is an inherited disorder of bone growth that results in dwarfism, skeletal abnormalities, and problems with vision and hearing. People with spondyloepiphyseal dysplasia have short stature from birth, with a very short neck and trunk and shortened limbs. They also will potentially...
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...Skeletal.eap3am 8/20/02 1:20 PM Page 50 50 The Body Systems: Clinical and Applied Topics The Skeletal System 6 The skeletal framework of the body is composed of at least 206 bones and the associated tendons, ligaments, and cartilages. The skeletal system has a variety of important functions, including the support of soft tissues, blood cell production, mineral and lipid storage, and, through its relationships with the muscular system, the support and movement of the body as a whole. Skeletal system disorders can thus affect many other systems. The skeletal system is in turn influenced by the activities of other systems. For example, weakness or paralysis of skeletal muscles will lead to a weakening of the associated bones. Although the bones you study in the lab may seem rigid and permanent structures, the living skeleton is dynamic and undergoing continual remodeling. The remodeling process involves bone deposition by osteoblasts and bone resorption by osteoclasts. As indicated in Figure A-16, the net result of the remodeling varies depending on: 2. The applied physical stresses: Heavily stressed bones become thicker and stronger, and lightly stressed bones become thinner and weaker. Skeletal weakness can therefore result from muscular disorders, such as myasthenia gravis (p. 66) or the muscular dystrophies (p. 65), and conditions that affect CNS motor neurons, such as spinal cord injuries (p. 75), demyelination disorders (p. 72), or multiple sclerosis (pp. 72, 82). 3....
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...BIO483 Exam #4 Review Comprehensive and/or early Weeks Know all conditions that cause splenomegaly All associated diseases with EBV Week 1 Mechanisms of Cellular Adaptation Types of necrosis and pathology where most likely found. Apply the definitions of Atrophy, hypertrophy, hyperplasia, hypoplasia, dysplasia, and metaplasia. Week 2 Pain Throughout Organ Systems General anatomy of kidneys, appendix, gallbladder, pancreas, spleen, male and female reproductive organs. Costochondritis vs Angina Pectoris vs Myocardial Infarctions. Rheumatoid arthritis Gout lab findings Week 3 Fluid Balance and Edema Electrolyte imbalances of sodium, potassium, calcium, and magnesium. Intra and Extra cellular concentrations of sodium and potassium as related to osmotic balance. Know the physical signs/symptoms of electrolyte imbalances including hyper and hypo natremia, kalemia, and calcemia. SIADH lab and imaging findings Diabetes insipidus lab and imaging findings Week 4 Topic 4 Acidosis and Alkalosis Know your acid-bases! Week 5 Topic 5 Cardiovascular Causes of Fatigue Cor-pulmonale, cardiomyopathies Week 6 Topic 6 Thyroid, Adrenal, Liver Fatigue Hashimoto’s thyroiditis vs. DeQuervain vs. nodular goiter vs. secondary hypothyroidism Cirrhosis, Addison disease lab tests and hormone responsible. Is it high or low? Week 7 Topic 7 Bleeding as Indicator of Disease Pathophysiology of Disseminated Intravascular Coagulation Pathophysiology of Hemophilia Ulcers ...
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...pediatric growth charts. PD causes the head, trunk, and limbs to grow slowly and not completely develop into an average size adult. "Most dwarfism related conditions are genetic disorders but the causes of some disorders are unknown. Most occurrences of dwarfism result from a random genetic mutation in the father's sperm or the mother's egg rather than being in either parent's genetic makeup." When a person with DD has an average size trunk shorter upper arms and legs, short arms and legs with noticeably shorter upper arms and legs, limited mobility at the elbows, extra-large head with large forehead and flattened nose bridge, bowed legs, lordosis, and an adult height on average of four feet tall, they usually have the disorder achondroplasia. A person with signs of a very short trunk, neck, arms and legs, average hands and feet, flattened cheekbones, coxa vara, clubfoot, kyphosis, lordosis, eye and auditory disorders and an average adult size of three feet to just over four feet may suffer from SEDC or spondyloepiphyseal...
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...003 Chapter 03 Cell Biology and Genetics Student: ___________________________________________________________________________ 1. The structural and functional unit of all living organisms is the A. ribosome. B. cell. C. organ. D. organelle. E. plasma membrane. 2. All of the chemical reactions within a cell are known as cell A. reproduction. B. metabolism. C. communication. D. inheritance. E. movement. 3. Cells produce and respond to chemical and electrical signals as a means of A. communicating. B. metabolizing. C. reproducing. D. synthesizing. E. using energy. 4. Which of the following is NOT a characteristic function of a cell? A. reproduction and inheritance B. metabolism and energy use C. movement D. synthesis E. communication 5. Which of the following could be used to study general features of cells? A. a magnifying glass B. scanning electron microscope C. transmission electron microscope D. binoculars E. light microscope 6. In order to study in detail the anatomy of internal cell parts, it would be best to use A. x-rays. B. flashlights. C. a transmission electron microscope (TEM). D. tissue cultures. E. a scanning electron microscope (SEM). 7. The plasma membrane A. separates the nucleus from the rest of the cell. B. is a rigid protein membrane. C. is not permeable. D. has a single layer of phospholipids. E. regulates movement of materials into and out of the cell. 8. The environment outside the plasma membrane is most appropriately...
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...BY 101 Study Guide Chapter 9 – Cell Division Cell division is an elegant process that enables organisms to grow and reproduce. Through a sequence of steps, the replicated genetic material (chromosomes) in a parent cell is equally distributed to two daughter cells. While there are some subtle differences, mitosis is remarkably similar across organisms. Before a dividing cell enters mitosis, it undergoes a period of growth called interphase. Interphase is the "holding" stage or the stage between two successive cell divisions. In this stage, the cell replicates its genetic material and organelles in preparation for division. The cell cycle, or cell-division cycle, is the series of events that take place in a cell leading to its division and duplication (replication). The cell cycle consists of four distinct phases: G1 phase, S phase (synthesis), G2 phase (collectively known as interphase) and M phase (mitosis). M phase is itself composed of two tightly coupled processes: mitosis, in which the cell's chromosomes are divided between the two daughter cells, and cytokinesis, in which the cell's cytoplasm divides forming distinct cells. Activation of each phase is dependent on the proper progression and completion of the previous one. Cells that have temporarily or reversibly stopped dividing are said to have entered a state of quiescence called G0 phase. Mitosis is composed of several stages: * Prophase * Metaphase * Anaphase * Telophase Prophase ...
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...Gene Therapy SCI115 Introduction to Biology Professor Cassie Prisco November 28, 2014 Gene therapy is a rapidly growing field of medicine in which genes are introduced into the body to treat diseases. It is the name applied to the treatment of inherited diseases by corrective genetic engineering of the dysfunctional genes. It is part of a broader field called genetic medicine, which involves the screening, diagnosis, prevention and treatment of hereditary conditions in humans. The results of genetic screening can pinpoint a potential problem to which gene therapy can sometimes offer a solution. Genes represent the genetic material that organisms pass on from generation to generation. Therefore, genes are responsible for controlling hereditary traits and provide the basic biological code or blueprint for living organisms. Genes produce protein such as hair and skin as well as proteins that are important for the proper functioning of organs. Mutated or defective genes often cause disease. The purpose of gene therapy is to replace a defective gene with a normal copy of the same gene in attempt to restore function. Initially conceived as an approach for treating inherited diseases, like cystic fibrosis and Huntington's disease, the scope of potential gene therapies has grown to include treatments for cancers, arthritis, and infectious diseases. Although gene therapy testing in humans has rapidly advanced, in general, the field of gene therapy has proven to be problematic...
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...Biology- The scientific study of life. Life is structured on a size scale ranging from the molecular (smallest components of life) to the global (Earth) scale. Biology encompasses a large variety of life on earth. Uses of Biology in every day life: Molecular Biology – (Biology that deals with the smallest components of life such as cells, DNA, RNA) is used to solve crimes and reveal ancestry. Ecology- The scientific study of interactions among organisms and their environment is used to address environmental issues. Neuroscience- Field in biology that deals with brains; and Evolutionary science- the study of the evolution of organisms are being used to reshape psychology and sociology. Characteristics of Life: Living things are organized – The organs or vital components that make up a living organism each perform a specific function in an organized way such that it allows the organism to live. Regulation – All living organisms have the ability to regulate and accommodate to changes in their environment in order to stay alive. Growth and Development – Living organisms have the ability to grow and develop. Energy Utilization – Living organisms use energy or convert energy from a food source in order to carry or be able to perform different functions. For example, the human body utilizes carbohydrates found in food as a source of energy. With this energy, humans are able to perform simple tasks such as walking, talking, breathing, etc. Response to environment – Similar...
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...|Prefix/suffix |Meaning |Example(s) | |balano- |Of the glans penis or glans clitoridis |Balanitis | |bi- |twice, double |Binary[disambiguation needed [pic]] | |bio- |life |Biology | |blast(o)- |germ or bud |Blastomere | |blephar(o)- |Of or pertaining to the eyelid |Blepharoplast | |brachi(o)- |Of or relating to the arm |Brachium of inferior colliculus | |brachy- |Indicating 'short' or less commonly 'little' |brachycephalic | |brady- |'slow' |Bradycardia | |bronch(i)-...
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...Chapter 14 Mendel and the Gene Idea Lecture Outline Overview • Every day we observe heritable variations (such as brown, green, or blue eyes) among individuals in a population. • These traits are transmitted from parents to offspring. • One possible explanation for heredity is a “blending” hypothesis. ° This hypothesis proposes that genetic material contributed by each parent mixes in a manner analogous to the way blue and yellow paints blend to make green. ° With blending inheritance, a freely mating population will eventually give rise to a uniform population of individuals. ° Everyday observations and the results of breeding experiments tell us that heritable traits do not blend to become uniform. • An alternative model, “particulate” inheritance, proposes that parents pass on discrete heritable units, genes, that retain their separate identities in offspring. ° Genes can be sorted and passed on, generation after generation, in undiluted form. • Modern genetics began in an abbey garden, where a monk named Gregor Mendel documented a particulate mechanism of inheritance. A. Gregor Mendel’s Discoveries 1. Mendel brought an experimental and quantitative approach to genetics. • Mendel discovered the basic principles of heredity by breeding garden peas in carefully planned experiments. • Mendel grew up on a small farm in what is today the Czech Republic. • In 1843, Mendel entered an Augustinian monastery. • He...
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