...Some of the projects include “Genotype to Phenotype Analysis in Inflammatory Bowel Disease” and is investigating the genes responsible for the intestinal homeostasis breakdown to provide new insights into these disease mechanisms. I just started working on SHARE 8 project “Genetic, Serologic and Clinical Factors Associated with ‘Rare’ IBD Phenotypes”, and the goal of this project to utilize the large clinical base of the SHARE consortium as well as chart review in order to collect the largest cohorts of ‘rare’ IBD manifestations such as pyoderma gangrenosum, erythema nodosum, multiple sclerosis etc (SHARE, 2015). . Our Medical center is also participating in the World Trade Center (WTC) Health Center Registry an initiative of Agency for Toxic Substances and Disease Registry (ATSDR) and the New York City Health Department (NYCHP) to assess how the 9/11 events and exposure impacted the public health. The gastroenterology department are performing screening endoscopic procedures for any possible association of the 9/11 hazardous exposure and gastrointestinal...
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...------------------------------------------------- Abstract Kleine–Levin syndrome (KLS) is a rare sleep disorder mainly affecting teenage boys in which the main features are intermittent hypersomnolence, behavioral and cognitive disturbances, hyperphagia, and in some cases hypersexuality. Each episode is of brief duration varying from a week to 1–2 months and affected people are entirely asymptomatic between episodes. No definite cause has been identified, and no effective treatments are available even though illness is having well-defined clinical features. Multiple relapses occur every few weeks or months, and the condition may last for a decade or more before spontaneous resolution. In this study, PubMed was searched and appropriate articles were reviewed to highlight etiology, clinical features, and management of KLS. On the basis of this knowledge, practical information is offered to help clinicians about how to investigate a case of KLS, and what are the possible treatment modalities available currently for the treatment during an episode and interepisodic period for prophylaxis. Comprehensive research into the etiology, pathophysiology, investigation, and treatments are required to aid the development of disease-specific targeted therapies. Keywords: Hypersomnia, hypersexuality, Kleine–Levin syndrome, megaphagia, periodic Go to: ------------------------------------------------- Introduction Kleine–Levin syndrome (KLS) is a rare disease characterized by recurrent episodes of hypersomnia and to various...
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...Request Analysis By Genetic Engineering: Patent Request Analysis The governmental patent office has requested a think tank team of criminologists to review the research documents of new technology computer-aided microscopic rare gene molecules. The team of criminologists will consider the legal or not legal aspects of the doctor’s request for a patent, along with the viability of current transplant procedures. The scenario states the doctor has invented a computer – aided organism as key to bridge the new cells to human organs in the host receiver. This is a new concept of using microscopic rare gene molecules to make any human organ viable for everyone without the side effects of rejection, or infections. This research document is the collective, innovative thoughts and opinions of four people team. Patent Requirements The filing of medical patent begins with two important points. The first point begins as the criminologists will determine the usability of the new technology. The computer – aided microscopic rare gene molecules are the key to bridge genetically designed new cells to the human organs within the host receiver. This concept would make the genetically engineered cells for the damaged organ acceptable to the host receiver. The viable idea is to inject the microscopic rare gene molecules straight into the damaged organ along with the anti-infection drugs. The second important point is the innovative studies to confirm the computer- aided microscopic rare gene...
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...in several countries, including bio-secure facilities (BSL3 and below only). Cambridge was recently approached by a small privately-held biotechnology company (BTC), to provide transgenic services on a new proprietary transgenic mouse model. BTC’s unique transgenic mouse produces a toxin that effectively disables a certain strain of filovirus, normally found in remote areas of Central Africa, known as “Tinochika” (in local dialect, “the one we live in fear of”). The so-called TC virus, a relative of the infamous “Ebola” virus, is equally deadly, but more stable and long-lived. No treatments for the human form of this rare tropical disease are currently available. While BTC began this project with the idea that TC virus was a rare tropical disease with limited market potential, it has since learned from the Centers for Disease Control that isolated cases of TC infected...
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...Cri du Chat Cri du chat syndrome is a rare genetic disorder which approximately affects 1 in 20,000 to 50,000 live births. The disease does not depend on ethnic backgrounds, but is most common in the case of women. The disorder gets its name from the typical cry of babies born with this syndrome. The baby sounds like a kitten, because of problems with the nervous system and larynx. The good news is that about 1/3 of kids recover by the age of 2. Negative aspects of this disease may be: * Feeding problems, because they can't suck and swallow well * Low weight at birth and poor evolution * Motor, cognitive, and speech delays * Behavioral problems such as aggression, hyperactivity, and repetitive movements * Uncommon facial traits that can change in time * What is Cri-du-Chat syndrome? The name of this syndrome is French for "cry of the cat," referring to the distinctive cry of children with this disorder. The cry is caused by abnormal larynx development, one of the many symptoms associated with this disorder. It usually becomes less noticeable as the baby gets older, making it difficult for doctors to diagnose cri-du-chat after age two. Cri-du-chat is caused by a deletion (the length of which may vary) on the short arm of chromosome 5. Multiple genes are missing as a result of this deletion, and each may contribute to the symptoms of the disorder. One of the deleted genes known to be involved is TERT (telomerase reverse transcriptase). This gene is...
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...Encephalitis is a rare but potentially life-threatening inflammation of the brain that can occur in people of all ages. This disease as the name suggests is inflammation (swelling) or irritation of the brain. It is often mistaken for meningitis which is an acute or chronic inflammation of the protective membranes covering the brain and spinal cord, known collectively as the meninges. Many people aren’t knowledgeable about this disease or condition, as they should be as this condition is commonly caused by infection rather viral, bacterial, autoimmune, etc. Viral encephalitis may develop during or after infection with any of several viral illnesses including influenza, measles, mumps, herpes simplex, rabies, chickenpox, including West Nile virus....
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...electronic or mechanical, including photocopying or by information storage or retrieval systems, without prior written permission from the Publisher. All rights reserved. Not for commercial use or unauthorized distribution Downloaded from content.healthaffairs.org by Health Affairs on February 29, 2016 at UNIV OF CALIFORNIA Intellectual Property & Innovation By Henry G. Grabowski, Joseph A. DiMasi, and Genia Long 10.1377/hlthaff.2014.1047 HEALTH AFFAIRS 34, NO. 2 (2015): 302–310 ©2015 Project HOPE— The People-to-People Health Foundation, Inc. doi: Henry G. Grabowski (grabow@ econ.duke.edu) is a professor of economics at Duke University, in Durham, North Carolina. Joseph A. DiMasi is director of economic analysis at the Tufts Center for the Study of Drug Development, Tufts University, in...
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...North America Equity Research 06 January 2014 2014 Global Biotech Outlook Differentiated Growth, Advancing Pipelines Should Drive Outperformance; Conf Call at 11am ET Today The biotech sector had a stellar 2013 (NBI: +65%; S&P: +29%) driven by strong demand for the sector’s key products, many positive phase 3 studies and a wave of successful IPOs. Looking to 2014, we think the fundamental backdrop is very similar with 1) beatable revenue growth expectations (2014e: +16% vs. 2012/2013: +12%) including several high-profile drug launches, 2) many pivotal studies set to read out and 3) a stable/favorable regulatory and reimbursement environment. Notably, these factors should continue to make biotech attractive to generalist investors, who played a major role in the 2013 outperformance. Our bias is to stick with large caps as well as mid-caps with approved products; revenue/EPS/cash flow forecasts for 2015 and beyond look broadly beatable, in our view. In contrast, we suspect that “pure pipeline” or tech platform small caps could be more volatile in 2014. We continue to believe that the biotech industry is in the early innings of an innovation cycle with many labelexpansion opportunities and novel agents in phase 2 or 3 trials that are largely unaccounted for in Street models. Hence, we are bullish on the group for 2014. Please join us for a call today at 11am ET to discuss our sector outlook/favorite names (US dial-in: 888-889-1309; OUS: 773-756-0161; Passcode: BIOTECH). Large-cap...
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...Bad Bug Book Handbook of Foodborne Pathogenic Microorganisms and Natural Toxins Introduction Food safety is a complex issue that has an impact on all segments of society, from the general public to government, industry, and academia. The second edition of the Bad Bug Book, published by the Center for Food Safety and Applied Nutrition, of the Food and Drug Administration (FDA), U.S. Department of Health and Human Services, provides current information about the major known agents that cause foodborne illness. The information provided in this handbook is abbreviated and general in nature, and is intended for practical use. It is not intended to be a comprehensive scientific or clinical reference. Under the laws administered by FDA, a food is adulterated if it contains (1) a poisonous or otherwise harmful substance that is not an inherent natural constituent of the food itself, in an amount that poses a reasonable possibility of injury to health, or (2) a substance that is an inherent natural constituent of the food itself; is not the result of environmental, agricultural, industrial, or other contamination; and is present in an amount that ordinarily renders the food injurious to health. The first includes, for example, a toxin produced by a fungus that has contaminated a food, or a pathogenic bacterium or virus, if the amount present in the food may be injurious to health. An example of the second...
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...(Cherry, 2012). There are many ways to define abnormality: statistical infrequency, violation of social norms, failure to function adequately, and deviation from ideal mental health. The first abnormality is statistical infrequency and with this example according to McLeod (2008), “Under this definition of abnormality, a person's trait, thinking or behavior is classified as abnormal if it is rare or statistically unusual. With this definition it is necessary to be clear about how rare a trait or behavior needs to be before we class it as abnormal”. Violation of social norms is probably one of the most common ways people associate abnormalities. An individuals thinking or behavior is defined as abnormal if they violate the rules that are expected or consider acceptable behavior in a social group. If their behavior is threatening or causes others to feel uncomfortable these individuals are in violation of social norms. Social behavior varies based on different cultures (McLeod, 2008). Failure to function is considered an abnormality due to an individual being unable to cope with day to day demands. Essentially, individuals are not capable of self-care, employment, social skills and making themselves understood. Some examples of failure to function are: suffering, maladaptiveness (danger to self), vividness, loss of control, irrationality, and violation of moral or social standards (McLeod, 2008). Deviation from ideal mental health is more so the definition of what is...
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...Linn County Oregon is located in the center of the Willamette Valley and covers 2,309 miles,19 of which are water (US Cesnus Bureau, 2015). It is the grass seed capitol of the world, and thus has a strong, rural culture. According to the US Census Bureau it has a population of 119, 356 people, and there are two hospitals available to serve this population. Because it is a large area with 37% of its residents living in a rural setting, transportation can be problematic. Unfortunately, over 20% of Linn County’s residents live at or below the poverty level and the large outlying area combined with this number can make access to health care a challenge (CityData.com, 2012). Population Economic Status Linn County Oregon consists of 119,356 people with an average household income of $45, 130 for two people. There is 20.5% of the population living below the poverty level and 19.7% of that total is under the age of 18. There is not a lot of cultural diversity in this area, as 93.4% of the population is White, followed by 8.4% Hispanic, and 1.3% Native American. Of that, 18.9% of the White population is living in poverty, 33.3% of the Hispanics, and 43.3% of the Native American’s also live at or below the poverty level (City-Data.com, 2012). Working in an Emergency Department, I see a large amount of the population that uses public assistance, as there tends to be the thought process that it is okay to use the ED for primary care. Twenty-five percent of the population is receiving...
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...lining of the stomach becomes damaged, a polyp may form. What is a Polyp? The term polyp refers to an unusual growth of tissue protruding from a mucous membrane. Polyps are frequently found in the nose, uterus, colon and, on occasion, in the stomach. A gastric polyp (aka stomach polyp) forms when masses of cells accumulate within the lining of the stomach. While stomach polyps are rare, fundic polyps have been on the rise in the U.S. This rise can be...
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...Peripartum cardiomyopathy (PPCM) is a rare form of pregnancy associated myocardial disease characterized by left ventricular systolic dysfunction [1]. Risk factors include multiparity, advanced maternal age, multiple pregnancies, pre-eclampsia, gestational and pre-existing hypertension and Afro-Caribbean race [2]. Nonspecific symptoms like fatigue and palpitation may present. Dyspnea and tachycardia are the most common complaints. Around a half of cases achieve spontaneous and complete recovery of left ventricular function after gestation. However，the remaining present with a much more progressive disease which may require intensive treatments and even heart transplantation [3]. Here we report a fatal case of PPCM, which was successfully managed...
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...RESEARCH HIGHLIGHTS JOURNAL CLUB Bruce R. Conklin Gladstone Institute of Cardiovascular Disease, San Francisco, California A geneticist wonders why we need to sleep. Scientists can have a love–hate relationship with sleep. We know that it is vital for our health, but not the reasons why. We celebrate dreams that provide inspiration, but often dismiss sleep as a chore. Yet deep sleep can provide insight into vexing problems. In 1920, pharmacologist Otto Loewi famously had a recurring dream that suggested how he could demonstrate neurotransmission in the lab. The key experimental details escaped him until he captured the dream in a bedside notebook. Later that day, he performed his Nobel-prizewinning experiments with the aid of a few frog hearts and a water bath. Now, a team led by Ying-Hui Fu reports that a single mutation in a gene called DEC2 can cause people to sleep for only about six hours per night instead of the usual eight (Y. He et al. Science 325, 866–870; 2009). This mutation seems to be exceedingly rare, with only two carriers found so far. Only by introducing this mutation into transgenic mice and fruitflies could the researchers show compelling evidence of the mutation’s effect. These two additional waking hours each day are quite remarkable when you consider that, over 80 years, this would add up to more than 8 years of extra productivity! Why are extreme short sleepers so rare? Surely evolutionary pressures should favour less sleep? In prehistoric times, short sleepers...
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...Cancer of the Brain Brain cancer is a rare disease effecting one out of every five-thousand people in the U.S. Eighty-five percent of cases occur in adults that are over the age forty and as for the other fifteen percent it is seen in children and young adults up to the age of twenty. Research has also found that more men are affected by brain cancer than women. There are two classifications of a brain tumor that are formed. One is called primary brain cancer. A primary brain tumor occurs when one type of cell changes it characteristics and multiplies in abnormal ways causing a tumor or mass to grow in the brain. The most common primary brain tumors are gliomas, meningiomas, pituitary adenomas, vestibular schwannomas, and primitive neuroectodermal tumors. These brain tumors are called primary because they start and form in the brain. The second type of brain tumor is called metastatic brain cancer. Metastatic brain tumors are caused by cancerous cells in a tumor elsewhere in the body. These cancerous cells spread to the brain from a cancerous tumor in the body causing a cancerous tumor in the brain. This process is called metastasis. This process occurs in about twenty-five percent of tumors found in the body. There are many types of brain tumors. Not all tumors found in the brain are cancer. Tumors can be malignant (cancer) or benign (not cancer). A malignant tumor is a cancerous tumor that in some cases can spread to other parts of the brain...
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