11618 “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
Thalidomide Introduction The calamity of thalidomide is one of the worst disasters in pharmaceutical history. During a post-war era, when people were commonly experiencing insomnia, there was high demand for sedatives like thalidomide. The drug was retailed as a sleeping pill that you could never overdose on. It was even considered safe enough for pregnant women. It helped them with morning sickness. It was “the only non-barbiturate sedative known at the time” (Fintel et al.) which gave the drug
treatment have been and are currently being studied. Such areas include the use of antiepileptic drugs, using Convection-Enhanced Delivery of chemotherapeutic agents, and targeting specific molecular markers and pathways such as the epidermal growth factor receptor (EGFR), O6-methylguanine-DNA-methyltransferase (MGMT), and the PI3K/Akt/mTOR pathway. CURRENT STANDARD OF THERAPY The current standard of therapy is resection of the tumor plus radiotherapy and TMZ (E5). Multiple studies performed between
Tyrosine kinase inhibitors are an important group of target-specific, small molecule enzyme inhibitors that have been studied extensively and represent an expanding group of effective, chemotherapeutic agents. (8) These agents, unlike other cytotoxic agents, can be administered on a daily basis because of their selectivity and favorable safety profile. However, from previously conducted studies, all TKIs appear to be transported by efflux transporters and some of these have also been found to inhibit
Understanding Acromegaly: Symptoms, Diagnosis and Treatments Acromegaly is most commonly seen in adults who have a pituitary adenoma. This adenoma produces excess amounts of Growth Hormone (GH) which affects cartilaginous tissues such as the joints in hands and jaws, as well as the tissue of the nose, ears and heart. Because this growth is occurring after the epiphyseal plates have closed it creates a disproportionate appearance which is typically the first sign in the patient. There are several immunoradio
Diets have been an altering factor in the prevalence of acne in individuals. A Ketogenic diet has been studied to determine if the low carbohydrate high protein and fat diet altered the impact of acne vulgaris (Paoli, et al., 2012). Ketogenic diet is a diet that almost completely eliminates carbohydrates from the body and solely operate the body on increased portions of protein and fat. The idea surrounding this diet is that the body will constantly run on ketones and cause the body fat to be used
Acromegaly is a pituitary gland disorder that is an unusual and rare disease that comes from the hypersecretion of growth hormone during adulthood. It is rare in that acromegaly occurs in about 5 cases per million per year (Lugo 2011). Acromegaly if often labeled as a prolonged metabolic condition that is characterized by steady enlargement or elongation of facial bones and extremities (Thibodeau, 2013). This paper will explain the disease and how it affects the body, how one who has the disease
The development of neuropathy involves an increase in saturation of the polypol pathway, as well as increased oxidative stress, which contribute to changes in nerve structure and function (15). Increased blood sugar in diabetes mellitus results in a significant increase in cell glucose concentration, including in nerve tissues, due to the unregulated mechanism of cellular glucose uptake (8). The normal threshold of intracellular glucose rapidly becomes oversaturated, and the excess glucose
with any disease there are factors that may put one at more risk for developing the disease. The most common risk factor is age. After 65, the likelihood of developing Alzheimer’s disease doubles every 5 years - this means as you age you are more likely to be diagnosed with Alzheimer’s. Although, in early onset, people can be diagnosed as early as in their thirties - there are 500,000 people in America living with early onset Alzheimer’s. Being female is another risk factor. Women are more likely
provide then many Americans will be lining up to get a first try at its effects. The nervous system is classically one of the most misunderstood systems in relation to normal aging. In the normal aging process of the nervous system significant nerve cell mass is lost. This loss of mass causes atrophy of the brain and spinal cord. The number of neurons in a aging person, as well as the number of dendritic connections, is markedly decreased from that of a young adult (1). Neurons also begin to demyelinate
Abstract Bell’s palsy is a very interesting phenomenon that results in the damage of the facial nerve that controls the muscles of the face. The cause of it is uncertain however, it is considered to be an autoimmune disorder due to viral infections that cause muscle weakness and paralysis. Symptoms of Bell’s palsy include numbness to the face causing the face and eyelids to droop. Relies heavily on signs and symptoms and examination of physical condition by a doctor is highly recommended. Patients
finally earning a PhD from the University of Michigan in the field of biochemistry in 1948. He is described as a quiet, clarinet-playing man who liked working with Rita, whom he described as a very hard worker. He went on to discover the epidermal growth factor as well. Stanley and Rita won the shared Nobel Prize for physiology/medicine in 1986, as well as sharing the Louisa Gross Horowitz Prize form Columbia University in 1983. He also won the National Medal of Science in 1986 and his research has been
Pain and inflammation, both are protective responses in living organisms. However, these self-limiting conditions (with established negative feedback loops) become pathological if left uncontrolled. This review explains nociception and inflammation briefly. This is followed by detailed description of role of immune and related cells in peripheral sensitization, phenomenon of neurogenic inflammation, and, alterations at sensory ganglia and CNS due to immune system during nociception. Innate immunity
and edema that can last for months. The first compound identified, Hyaluronidase, lowers viscosity to allow for a deeper penetration of the venom into tissue. A C-type natriuretic peptide called OvCNP-39 contributes to edema. OvNGF is a nerve growth factor that is responsible for extreme sensitivity to heat and pressure. The role of Defensin-like proteins is not well known, but it is believed that they contribute the pain and edema associated with the venom. An unknown compound has been found
strategies to avoid further contact with the stimuli (Latremoliere & Woolf, 2009). Pain can be divided into nociceptive pain or neuropathic pain since each type of pain has a different mechanism. Nociceptive pain results from direct activation of pain nerve fibers from inflammatory, mechanical or chemical mediators, whereas neuropathic pain generally refers to pain that is initiated or sustained by a primary lesion or
Anatomy and Physiology The body system that I have chosen is the Nervous System. The nervous system is a complex network of nerves and cells that carry messages to and from the brain and spinal cord to various parts of the body. It has three main functions: an interpretative function, a sensory function and a motor function. The sensory function gathers information from inside the body and the outside environment, than the Sensory information is brought to the central nervous system (CNS) and is
a cure yet, scientists are however trying to find the root of the disease and control its destructive powers. Currently there is no cure for Alzheimer’s, scientists have also tried to increase the time for which the disease can fully take over the nerve cell connections, however that to cannot be achieved present-day, sometimes if the disease is caught early on it can be slowed down, but it is very rare. They are however developing treatments that may help with the symptoms. Out of about 7 billion
explaining the structure and the function of the endocrine system. I will be looking into glucose levels and how the role of glucagon and insulin relate to these levels. I will also compare the endocrine system to the nervous system, in relation to how nerves and hormones react to substances. The endocrine system is responsible for reacting to changes within the body and maintaining its stability. By reacting to changes it secretes specific hormones from glands, such as, the pancreas releases insulin
Hair is considered one of the components of the integumentary system, along with the skin, nails, glands and nerves. Mammalian hair has many functions including protection from environmental factors and the ability to disperse sweat gland products such as pheromones. Almost every part of the human body is covered by hair except for the palms, hands and bottoms of the feet. On average, every person has about five million hairs; each of these hairs is born from a follicle or tiny tube-like structure
important systems in the body, the nervous and endocrine system, both play huge roles in regulating the biological processes inside an organism. They are the basic systems that pretty much control the body, helping it react properly to any external factor. The main difference between these two systems is that the nervous system uses impulses to control the muscles while the endocrine uses chemical stimuli to pass the signal to the target cells or organs. These two systems have their