30 Kasım 2012 Cuma

WHO: Novel coronavirus not easily transmissible person-to-person

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Image/CIA

In afollow-up to an article I wrote on Examiner.com lastweekend, the World Health Organization issued anupdate on the novel coronavirus on Thursday saying there have no newcases of the virus reported.
The twoconfirmed cases to date have occurred in a  previously healthy, 49year-old male Qatari national with travel history to SaudiArabia prior to onset of illness and a a 60 year-old Saudi national whodied.
According to theWHO, from the information available thus far, it appears that the novelcoronavirus cannot be easily transmitted from person-to-person.
WHO isworking closely with the national authorities of the involved countries (Qatar,Saudi Arabia, United Kingdom) and international partners in order to betterunderstand the public health risk from the novel coronavirus.
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Measles outbreak sweeps through Kenya, 32 dead

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Image/CIA

TheKenya Ministry of Public Health and Sanitation has reported thatthe measles outbreak that has affected nearly every county in the country,has sickened 767 people so far in 2012, including 32 fatalities in children.
In a CapitalFM news report, Public Health and Sanitation DirectorShahnaaz Sharif said the deadly epidemic started in refugee camps in northeastern Kenya before spreading to the rest of the country.
The refugeesfrom Somalia are not typically vaccinated against the respiratory virus, notesSharif.
Cases of the“vaccine-preventable disease” has been reported  in 45 outof the 47 Counties in Kenya. Only Lamu and Marsabit Counties have been said tobe free of the outbreak.In 2011,there were 665 measles cases reported.
Sharif goeson to say, 441 measles cases have been detected in Narok County afternumerous children were diagnosed following the pronouncement of the outbreak.
Dr Sharifsaid 281 cases have also been recorded in Kitui and 225 in Garissa Counties. Hefurther revealed that 194 cases detected in Mandera and 128 in Nairobifollowing the diagnosing of the children in these Counties.
In responseto the outbreak, the government is set to launch a countrywide measlesimmunization campaign targeting over 6 million children.
Measlesor rubeola, is an acute highly communicable viral disease thatis characterized by Koplik spots in the cheek or tongue very early in the disease.A couple of days later a red blotchy rash appears first on the face, and thenspreads, lasting 4-7 days. Other symptoms includefever, cough and red watery eyes. The patient may becontagious from four days prior to the rash appearance to four daysafter rash appearance.
The disease ismore severe in infants and adults. Complications from measles whichis reported in up to 20% of people infected include;seizures, pneumonia, deafness and encephalitis.
Prevention ofmeasles is through vaccination.
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Indian boy vomits out 4 live Fasciolopsis buski flukes according to case report

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Fasciolopsis buski adult   Image/CDC DPDx

An11-year-old boy from India, with no symptoms of parasitic infection,was surprised and startled his parents when he woke up one morning to vomit outfour live fasciolopsiasis, or Fasciolopsis buski adults.
The case waspublished in the journal, the Annalsof Tropical Medicine and Public Health on Oct. 8.
According to thereport, his parents took the expelled worms to the pediatrician, which werereferred to the department of microbiology for identification. What they foundwere was a adult fluke that was dorsoventrally flattened, non-segmented,and flesh- colored. It measured about 34 mm x 20 mm in size (about 1 and 1/3 inchesby 3/4 of an inch).
Two suckerswere seen; ventral and oral, and the ventral sucker was relativelyprominent about 2 mm in size. The worm was fleshy and nearly oval in shape withthe anterior end narrower and the posterior end broadly rounded. There was nocephalic cone present.
Based onthese morphological characteristics, the wormwas identified as Fasciolopsis buski.
The boy hadno specific symptoms prior to this event, except occasionalabdominaldiscomfort, nausea, and mild distension.
The boy wastreated with nitazoxanide 250 mg twice-daily for 5 days. After 2 weeks oftreatment, stool samples were examined but did not show any evidence of anyparasite or ova.
Fasciolopsisbuski is the largest intestinal fluke in humans. It causes a parasiticdisease called fasciolopsiasis. It is found in Asia and the Indiansubcontinent, especially in areas where humans raise pigs and consumefreshwater plants.
InIndia, F. buski infestation has been reported mainly from Bihar,Uttar Pradesh, and Maharashtra and sporadically from other states like Assamand West Bengal. It is usually seen in rural areas where water plantsare eaten raw according to the case report authors.
See F. buski’s lifecycle here.
The pathologyof fasciolopsiasis can be described as: more worms , more disease, butusually asymptomatic.
Large numberof worms attached to the mucosa can cause bleeding,inflammation andulceration. In addition, large numbers may block the intestinal lumen.
Hunger pains,abdominal distention, increased appetite, diarrhea andfoul-smelling greenish-yellow stools may be seen.
The mostimportant plants involved in human infection are water caltrop (seea picture of water caltrops) and water chestnuts where themetcercariae are found on the outer shell.
The outercover is peeled off with the teeth and the metcercariae arereleased into the mouth.Pigs arereservoir hosts.
Praziquantelis the drug of choice.
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ACIP’s new recommendations include HibMenCY in infants, Tdap in pregnant women

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The federal panel that develops recommendations on the use of vaccines to prevent and control infectious diseases and protect the public health came out with new immunization recommendations for the use of Tdap in pregnant women and meningococcal vaccination in infants, according to a Centers for Disease Control and Prevention (CDC) Media Advisory Oct. 24.The Advisory Committee for Immunization Practices (ACIP) voted today 13 to 1, with 1 abstention, to recommend that infants at increased risk for meningococcal disease should be vaccinated with 4 doses of HibMenCY at 2, 4, 6, and 12 through 15 months.HibMenCY is a vaccine for the prevention Haemophilus influenzae type b and Neisseria meningitidis serogroups C and Y, common causes of serious bacterial meningitis infections.The committee says infants with recognized persistent complement pathway deficiencies and infants who have anatomic or functional asplenia including sickle cell disease are at increased risk and should receive the vaccine regimen.In addition, the vaccine can be used in infants ages 2 through 18 months who are in communities with serogroup C and Y meningococcal disease outbreaks.The ACIP also voted unanimously (14-0, with one abstention) to recommend that providers of prenatal care implement a Tdap immunization program for all pregnant women.This new recommendation expands the ACIP's June 2011 recommendation that, among pregnant women, only those who have not had the Tdap vaccine should receive it.The panel says health-care personnel should administer a dose of Tdap during each pregnancy irrespective of the patient’s prior history of receiving Tdap. If not administered during pregnancy, Tdap should be administered immediately postpartum.According to an email media release from the CDC, officials say, “By getting Tdap during pregnancy, maternal pertussis antibodies transfer to the newborn, likely providing protection against pertussis in early life, before the baby starts getting DTaP vaccines. Tdap will also protect the mother at time of delivery, making her less likely to transmit pertussis to her infant. If not vaccinated during pregnancy, Tdap should be given immediately postpartum, before leaving the hospital or birthing center.”The ACIP consists of 15 experts who are voting members and are responsible for making vaccine recommendations. Fourteen of the members are experts in a scientific discipline such as virology and immunology. The 15th member is a consumer representative who provides perspectives on the social and community aspects of vaccination.Their recommendations are forwarded to CDC’s Director for approval. If the ACIP recommendations are approved by the CDC Director, they will be published in CDC’s Morbidity and Mortality Weekly Report (MMWR) and represent the official CDC recommendations for immunizations in the U.S.; until then, they are considered provisional.For more infectious disease news and information, visit and “like” the Infectious Disease News Facebook page

USAID to provide $20 million to fight bird flu, other emerging threats

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Avian influenza (H5N1) virions   Image/CDC

The United States Agency for International Development (USAID) announced their commitment to $20 million in new funding to support the Food and Agricultural Organization’s (FAO) battle with avian influenza and other emerging threats in global hotspots, according to a FAO news release Oct. 29.According to the release, the US assistance will help strengthen preparedness and response to H5N1 highly pathogenic avian influenza (HPAI) with the majority of the money going to Bangladesh, China, Indonesia and Viet Nam to upgrade laboratory and surveillance capacities.Funding will also be provided to the neighboring countries of Cambodia, Lao PDR, Nepal and Myanmar for surveillance and prevention."The US Government has been key in generating international support to combat avian influenza and to reduce the chances for a human pandemic by assisting FAO and others to address the threat in animals before it spills over into humans. Such support for basic prevention measures is rare, yet most sensible and cost effective," said FAO Chief Veterinary Officer Juan Lubroth.Southeast Asia is considered a ‘hotspot' region given already high population numbers and the rates of population expansion - of people and animals living in ever closer contact.China is one example- it is home to half the world's pigs, about a quarter of its chickens, 70 percent of all ducks and 90 percent of the globe's geese. Close contact among them all provides viruses with many hosts and the opportunity to jump species, which in turn can lead to virus adaptations and eventually an influenza virus with pandemic potential.The FAO says two out of three emerging infectious diseases in humans are zoonotic, or have their origins in animals. Of those zoonotic diseases, 75 percent come from wildlife.According to the World Health Organization, most avian influenza viruses do not cause disease in humans. However, some are zoonotic, meaning that they can infect humans and cause disease. The most well known example is the avian influenza subtype H5N1 viruses currently circulating in poultry in parts of Asia and northeast Africa, which have caused human disease and deaths since 1997.Other avian influenza subtypes, including H7N7 and H9N2, have also infected people. Some of these infections have been very severe and some have resulted in deaths, but many infections have been mild or even subclinical in humans.Humans are at risk:
  • when people's work brings them in contact with infected animals.
  • when people contact infected animals during their everyday lives, such as when visiting live animal markets or when these animals are kept as part of the household.
  • when people handle or slaughter infected animals, or work with raw meat and by-products from infected animals.
  • when people contact things around them, such as animal housing areas and equipment, ponds and other water sources, faeces, and feathers, if these things are contaminated with influenza viruses.
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29 Kasım 2012 Perşembe

Maternal and neonatal tetanus eliminated in China: WHO

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Neonatal tetanus  Image/CDC

A deadly disease that can occur as a result of unclean baby deliveries and umbilical cord care practices has been eliminated in the world’s most populous country, according to a World Health Organization (WHO)-China press release Oct. 30.The WHO has confirmed that China has eliminated maternal and neonatal tetanus, a serious, life threatening disease for both the mother and her newborn.The Chinese Health Ministry's Maternal and Child Health (MCH) programme implemented a strategy of improved antenatal care and promotion of clean and institutional deliveries to eliminate the disease.In addition, upgraded hospitals and equipment, better trained obstetric staff and subsidized hospitalization in poorer, rural areas all contributed to the elimination of the disease.The WHO confirmed the elimination by a comprehensive risk assessment exercise and community-based validation surveys.The surveys revealed that of the over 1,400 women interviewed, 99 percent had hospital deliveries, the major component to preventing maternal and neonatal tetanus.“The achievement came as a result of a number of different programmes in the Ministry of Health, other government sectors and partners working together for a joint goal to better improve the health of mothers and children and enhance the well-being of families and communities,” says Dr. Michael O’Leary, WHO Representative in China.However, O’Leary adds, "The elimination does not mean that activities can stop; rather, it is the start of a new phase to sustain elimination through continued strong government commitment to the leadership of the Maternal and Child Health programme.”According to the WHO, tetanus is acquired through exposure to the spores of the bacterium Clostridium tetani which are universally present in the soil. The disease is caused by the action of a potent neurotoxin produced during the growth of the bacteria in dead tissues, e.g. in dirty wounds or in the umbilicus following non-sterile delivery.People of all ages can get tetanus. But the disease is particularly common and serious in newborn babies. This is called neonatal tetanus. Most infants who get the disease die. Neonatal tetanus is particularly common in rural areas where most deliveries are at home without adequate sterile procedures.In 1988, the WHO estimated that 787,000 newborns died of neonatal tetanus. The most recent estimates from 2008 show that number down to 59,000, a 92% reduction from the situation in the late 1980s.Today, there are still 34 countries that have not reached maternal and neonatal tetanus elimination status.The WHO considers neonatal tetanus to have been eliminated when the incidence is less than one case per 1000 live births in every district in a country. Maternal tetanus is considered to be eliminated when neonatal tetanus has been eliminated.For more infectious disease news and information, visit and “like” the Infectious Disease News Facebook page

Mauritania reports 34 human Rift Valley fever cases in past six weeks

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Mauritania   Image/CIA

The West African country, which officially declared a Rift Valley fever outbreak 4 weeks ago, has reported 34 cases of the viral zoonotic disease since mid-September,according to a World Health Organization (WHO) Global Alert and Response Nov. 1.The Islamic Republic of Mauritania Ministry of Health (MoH) reports from 16 September 2012 (the date of onset of the index case) to 30 October 2012, a total of 34 cases, including 17 deaths have been reported from 6 regions.The six regions include Assaba, Brakna, Hodh Chargui, Hodh Gharbi, Tagant and Trarza. All the cases had history of contact with animals.The most recent case was recorded Oct. 27. The MoH officially declared an outbreak Oct. 4.Laboratory testing on patients was performed at the National Reference Laboratory of the National Institute of Public Health Research (INRS) in Nouakchott and at the Institut Pasteur in Dakar. Testing revealed 25 positive cases by ELISA and PCR.Animal testing has shown virus circulation in several regions of Mauritania.A task force has been put together to strengthen epidemiological surveillance in both human and animal health, education and awareness campaigns.An international team of experts will be deployed to provide technical assistance starting Saturday.The WHO says Rift Valley fever (RVF) is a viral zoonotic disease of domestic ruminants in Africa and, recently, the Arabian Peninsula that was first identified in Kenya in 1931. This mosquito-borne disease primarily affects animals but that also has the capacity to infect humans.The vast majority of human infections result from direct or indirect contact with the blood, organs or aborted fetuses of infected animals. Such contact may occur during the care or slaughtering of infected animals or possibly from the ingestion of raw milk. Human infection can also result from the bites of infected mosquitoes.Most human cases of RVF are generally mild; however, a small percentage of patients develop a much more severe form of the disease that appears as one or more of three distinct syndromes: ocular disease, meningoencephalitis and viral hemorrhagic fever.Mauritania experienced an outbreak of RVF in 2010.The WHO does not recommend any travel or trade restrictions with respect to Mauritania.For more infectious disease news and information, visit and “like” the Infectious Disease News Facebook page

Darfur yellow fever death toll continues to rise

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Aedes aegypti Image/CDC

In a follow-up to a story last week, the number of yellow fever fatalities continues to rise in nine localities in Central, South and West Darfur, according to a World Health Organization (WHO) Situation Report Nov. 2.The WHO states, as of 1 November 2012, between the last week of September and the last week of October, 103 suspected cases, including 42 deaths (case fatality rate of 40.7%), have been reported from the districts of Zalengei, Nertity, Wadisalih, Azoom, Nyala, Sharq Algabal (Mershing), Kass, Geneina and Kernik.This is up from 32 fatalities and 84 suspected cases reported on Oct. 29.The Indo Asian News Service reported Nov. 5 (local time) that the death toll is at 50; however, the WHO has yet to put out this updated number.The vast majority of cases have been report from Central Darfur (81.5 percent), while the remainder are reported from South Darfur (16.5 percent) and 2% are from West Darfur.Seven out of ten cases are male with 75 percent of all cases seen are between ages 2- 29.Technical support teams from Sudan’s Federal Ministry of Health are on ground in Central and South Darfur to conduct outbreak investigation and initiate response, entomological surveys in affected areas, as well as search for active cases.2000 doses of yellow fever vaccine have been availed for health staff in the affected localities.Read more about yellow feverFor more infectious disease news and information, visit and “like” the Infectious Disease News Facebook page

Darfur yellow fever death toll at 67

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The number of fatalities associated with the yellow fever outbreak in Central, South and West Darfur, has more than doubled in the past week according to an AFP report Nov. 6.According to a joint report from the SudanMinistry of Health (MoH) and the World Health Organization (WHO) Monday, 194 suspected yellow fever cases have been reported, including 67 deaths.This is up from 84 suspected cases, including 32 deaths on Oct. 29.In addition, the number of districts reporting cases has increased from nine last Friday to 17 today.A yellow fever vaccination campaign is slated to begin in early December.According to the WHO, yellow fever is an acute viral hemorrhagic disease transmitted by infected mosquitoes. The "yellow" in the name refers to the jaundice that affects some patients. The yellow fever virus is an arbovirus of the flavivirus genus, and the mosquito is the primary vector. It carries the virus from one host to another, primarily between monkeys, from monkeys to humans, and from person-to-person.Once contracted, the virus incubates in the body for 3 to 6 days, followed by infection that can occur in one or two phases. The first acute phase usually causes fever, muscle pain with prominent backache, headache, shivers, loss of appetite, and nausea or vomiting. Most patients improve and their symptoms disappear after 3 to 4 days.One confirmed case of yellow fever in an unvaccinated population should be considered an outbreak and a confirmed case in any context must be fully investigated, particularly in any area where most of the population has been vaccinated.There is no specific treatment for the viral illness found in tropical regions of Africa but it can be contained using bed nets, insect repellents and long clothing.Prevention of this viral disease is through vaccination.As a side note, in addition to the yellow fever outbreak in Darfur, North Darfur is also reporting a spike in measles in the past week.Measles cases in North Darfur has increased to 77, as opposed to the 52 cases registered before Eid al-Adha (Oct. 26-28, 2012), according to health officials.For more infectious disease news and information, visit and “like” the Infectious Disease News Facebook page

World Pneumonia Day is observed today

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Streptococcus pneumoniae   Image/CDC

Killing more than 1 million children annually,pneumonia is by far the leading cause of death in children under five years of age. This is why the observation of World Pneumonia Day is so important in raising awareness about this deadly killer of children, according to the Prevent Pneumonia Facebook page Nov. 12.Established in 2009, World Pneumonia Day is marked every year on November 12th to:
  • Raise awareness about pneumonia, the world’s leading killer of children under the age of five;
  • Promote interventions to protect against, prevent and treat pneumonia; and
  • Generate action to combat pneumonia.
The Global Coalition Against Child Pneumonia provides leadership for World Pneumonia Day and is comprised of over 140 NGOs, academic institutions, government agencies and foundations.Pneumonia is one of the most solvable problems in global health and yet a child dies from the infection every 20 seconds.The Global Coalition Against Child Pneumonia is working to save millions of lives through protecting children against pneumonia with proper nutrition through exclusive breastfeeding, preventing pneumonia with new and existing vaccines, particularly Hib vaccine and Pneumococcal conjugate vaccine and treating pneumonia by training health workers to recognize symptoms of pneumonia and increasing access to appropriate antibiotic treatment.According to the World Health Organization (WHO), pneumonia is a form of acute respiratory infection that affects the lungs. The lungs are made up of small sacs called alveoli, which fill with air when a healthy person breathes. When an individual has pneumonia, the alveoli are filled with pus and fluid, which makes breathing painful and limits oxygen intake.Some key facts about pneumonia include:
  • Pneumonia is the leading cause of death in children worldwide.
  • Pneumonia kills an estimated 1.2 million children under the age of five years every year – more than AIDS, malaria and tuberculosis combined.
  • Pneumonia can be caused by viruses, bacteria or fungi. Streptococcus pneumoniae and Haemophilus influenzae type b (Hib) are the top two bacterial causes of pneumonia, while respiratory syncytial virus (RSV) is the most common viral cause of pneumonia.
  • Pneumonia can be prevented by immunization, adequate nutrition and by addressing environmental factors.
  • Pneumonia can be treated with antibiotics, but around 30% of children with pneumonia receive the antibiotics they need.
How can you help with the fight against childhood pneumonia?Follow the World Pneumonia Day campaigns on Facebook and Twitter. In addition, you can donate to the GAVI Alliance where just $10 can provide one child with a lifetime of protection.For more infectious disease news and information, visit and “like” the Infectious Disease News Facebook page

28 Kasım 2012 Çarşamba

What's a Nun Got to do With it? by Tashiya G.

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Tashiya Gunesekera
ED2 -- Rubavu District, Western Province


My first friend in myvillage was a nun. Her name was Eleonora, a primary school teacher.She came to visit me in my temporary housing and commented that Ineeded to clean my floors more often. I felt, knowing what I knew ofRwandan culture, that she was going to be a genuine friend.
I live in small town inthe Northwest of Rwanda. I am very connected to the Catholic church,which predominates my town. I eat all my meals with the priests, andtake myself up the hill to Sunday mass every Sunday I'm at site. Thenuns live in a quaint house connected to the health clinic in town,which they run. There are two nuns from Spain named Aurelia and MariaJesus who are there as mentors and teachers for the Rwandan Nuns whowere Eleonora, Matilde, Marcelline, and Vestine. We quickly becamefriends due to the shortbread-like cookies they gave me every time Icame to visit at 530pm any weekday. As they said recently, “Tashiya,sabemos que te gusta las dolces.” (Tashiya we know that youlike the sweets.)
Throughout my time atsite, I have spent time getting to know the nuns. They helped me thattime I had a bad day and could not find any Margarine to make Mac andCheese. They listened to me complaining about all the papers I had tomark. They invited me to watch Spain trounce Italy in the Euro Cupthis year. They gave me a thermometer when I thought I was sick. Andmost importantly they helped me with my book project to get moreEnglish reading books for my school library. These books were sent totheir mailbox in Gisenyi and they carted them up the steep mountainin their car. During this time, I've had multiple opportunities toanalyze their lives.
Not being Catholic,apart from the “Sister Act”, I personally did not know much aboutnuns before I moved to this small town in Rwanda. I thought nuns weresuper religious women that gave up a life of family and love toworship God and help poor people. And, yes in some ways this is true.They do give up having a traditional family and romantic love, andthey are religious and they do help poor people. But, there is a lotmore to these nuns than that.
The nuns at my site allhave serious jobs and careers in the making. Eleonora was a primaryschool teacher, Vestine was a nurse at the health clinic, Marcellinetrains girls that are not in school in trades like sewing, andcooking, and Matilde was responsible for teaching young mothers aboutnutrition. The two Spanish nuns oversaw much of the running of theclinic and also were responsible for the running of their home.
Within my community,these nuns are considered to be influential people. They are often atsector, cell and village events. They sit with the important peoplewho thank goodness, I have finally been cleared of sitting with. (I'mfinally one with the people!) They also live in a nice house and haveaccess to a car to go to the nearest big town, Gisenyi andoccasionally Kigali. These nuns, probably due to their congregation,have serious opportunities to travel. Eleonora broke my heart whenshe said in the beginning of the second year that she was leaving togo live in Equatorial Guinea for her next mission. Mathilde moved onto the Ivory Coast. Vestine went to University in Kigali. Thisbrought in two new Nuns, Immaculee and Larisse. Immaculee is also anurse with a degree from a University in Kigali. She speaks fluentFrench, English and Spanish. Larisse is from the Democratic Republicof the Congo. Larisse is awaiting her time before she also wants tomove on to the Ivory Coast. I know that Eleonora spent two months inSpain visiting more Nuns from her order.
Many of these womencome from very poor families. Their choice to become a Nun obviouslychanged their lives. But, they are very strong women who are greatlyrespected and honored within Rwanda. They gain high levels withintheir professional fields and are supposed and encouraged withintheir communities. Even though they are not the head of the communitychurch like a Priest, they are still leaders and contributing greatlyto the societies in where they live. Do I think that all girls shouldaim to become Nuns? Not unless you get that calling because it isafter all a life where you give up a lot of comforts. But, it'sworth noticing how in a quiet way, Nuns are contributing to bridgingthe gender divide in rural communities and encouraging women tosucceed.

International Girls' Day Essay Competition Winners by Sarah D.

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Sarah DoyleEd2 - Kigali City
For International Girls' Day on October 11th, PCVs teamed up with Girl Hub, part of the Nike Foundation, to do an essay competition at some of our schools. The winners for both Kinyarwanda and English were sent along to me to select a few to go into Girl Hub's magazine, Ni Nyampinga. The magazine LOVED the essays and will be publishing excerpts from them all in the coming issue, but I thought this would be a good forum to post the English essays in their entirety. The question that we posed to the students was: "Why do you value yourself and what can you do to help develop your community?" Very often our students struggle with critical thinking, but I'm sure you'll agree, the essays below are very powerful and speak to the growing determination of young girls in Rwanda to not only study and create a future for themselves, but also to help their communities.
So now for the winners...
KABASINGA Flaviah,S6HEG, 18 years oldCollege De Rushaki,Gicumbi District, Northern ProvincePCV: Lucy Sung
Why do I value myselfand What can I do for my community?Value is somethinginside which makes one to be more important and to be useful. One can be valuedaccording to how one values herself in the society or among other people. I value myself in order to gain self respectamong others and this self respect cannot be given to me when I have not knownthe value I have. When one values herself, it will make her gain responsibilityin the community because everyone believes that she has knowledge and she iscapable of doing everything for the society. I value myself so thatI can uplift and restore the traditional culture of our community becauseculture makes all the people in the society to be unite and respective of eachother.When I value myself, Igain confidence and hope in myself to work and develop my community in order toachieve development and prosperity to the nation. The value I give to myselfmakes it easier for to plan for my future because when I get to know the valueI have, I don’t let it down but I fight to make it better even for people tohonour me. I value myself becauseam a co-creator of God so I have to make sure that God has more value thaneverything and I have to value myself so that God can be happy with me throughshowing good examples to other creatures.I value myself becauseam a coordinator of all living things in the world .I have the power andsupremacy to control and manage everything in the world.Value brings hope,peace, and love in the society that is why I value myself because when Irespect others they also respect me, which makes us equal ad makes me morevaluable.Value brings harmonyin the society because when I value myself and others, I give a good example toothers which makes the society to live happily.All I can do for mycommunity is to keep the value of our society is to respect each other andencourage them to have love, patience, and courage in what they do. For mycommunity, I can encourage them to have the spirit of the traditional cultureand nationalism in order to keep stability in the society. Encouraging people tohave confidence and to work hard in order to achieve development which canvalue our community. I can help my community to teach them what value is, whythey need it, and how they can achieve it, because value makes people to knowntheir human rights._________________________________________________________________
UWIMBABAZI Gemime, Senior 6 MCBE.S. BUGARAMA, Rusizi District, Western ProvincPCV: Jeff Monsma
I know I have value because:- I’m able to teach other girls.- I’m able to be and I will become a good leader.- I’m able to advise others.- I have the chance to study, while before girls didn’t getthat chance.- I have my self-esteem!- I know how to prevent AIDS.- I am able to fight against peer pressure.- I have the power to change the world.- I am able to create friendship between students.- I behave well- I am able to run the world, teaching women and girls abouthow theycan have self esteem, how they can fight peer pressure, andso on. AndI’ll do it because everything is possible!


Thirty hippos die in anthrax outbreak at Kruger National Park

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Public domain photo/  Zoophilia at en.wikipedia

An anthrax outbreak in the South African park has claimed the lives of 30 hippopotami in the past two weeks, according to a South African National Parks (SANParks) media release Nov. 5.The outbreak north of Kruger National Park, which initially began in August, has killed dozens of hippos in the Letaba and Olifants Rivers recently.Park officials are closely monitoring the situation.“Members of the public are urged to report any sightings to the nearest camp and not to touch the carcases. The State Veterinarians are busy examining six carcases that were found over the weekend and will issue the results as soon as they’re available”, according to SANParks spokesperson, Reynold Thakhuli.Thakhuli said that anthrax is a natural occurrence in the area.Since 1960, eight major anthrax outbreaks have occurred in the Kruger National Park (1960, 1970, 1990, 1991, 1993, 1999, 2010 and 2012).Anthrax is a pathogen in livestock and wild animals. Some of the more common herbivores are cattle, sheep, goats, horses, camels and deers.It infects humans primarily through occupational or incidental exposure with infected animals of their skins.Anthrax is caused by the bacterium, Bacillus anthracis. This spore forming bacteria can survive in the environment for years because of its ability to resist heat, cold, drying, etc. this is usually the infectious stage of anthrax.When conditions become favorable, the spores germinate into colonies of bacteria. An example would be a grazing cow ingests spores that in the cow, germinate, grow spread and eventually kill the animal.The bacteria will form spores in the carcass and then return to the soil to infect other animals.The vegetative form is rarely implicated in transmission.There are no reports of person-to-person transmission of anthrax. People get anthrax by handling contaminated animal or animal products, consuming undercooked meat of infected animals and more recently, intentional release of spores.There are three types of anthrax with differing degrees of seriousness: cutaneous, gastrointestinal and inhalation.For more infectious disease news and information, visit and “like” the Infectious Disease News Facebook page

Human hookworm vaccine candidate, Na-GST-1, progressing in clinical trials

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Image/CDC

Part I of the clinical trials for a human hookworm vaccine candidate, which began in late 2011, concluded with promising safety results. The vaccine candidate will now begin Part II of the study, according to a Sabin Vaccine Institute press release Nov. 5.Part I of the study, which took place in Belo Horizonte, Brazil, included vaccinating healthy adults with vaccine candidate Na-GST-1 who have never been exposed to the parasitic roundworm and observe them for health and safety issues.The next stage of Phase I clinical trial will include vaccinating 66 healthy, hookworm-exposed adults in hookworm endemic Americaninhas, Brazil.The volunteers, ages 18-45, will receive three shots over a four month period and monitored for the vaccine’s safety and volunteer immune response.“Eventually, a human hookworm vaccine will be used to protect children at risk of infection. Because the hookworm-exposed population being vaccinated in Part II of this trial is representative of the eventual target population, we’re closer to making this goal a reality,” said Dr. David Diemert, the trial’s principal investigator.Dr. Peter Hotez, president of the Sabin Vaccine Institute said, “A human hookworm vaccine will help more than 600 million people worldwide who currently suffer from the infection.”According to the release, the trial is being conducted in partnership with a team based at the Oswaldo Cruz Foundation (FIOCRUZ) of the Brazilian Ministry of Health, a member of the Sabin Vaccine Institute Product Development Partnership (Sabin PDP).Hookworm is the second most common intestinal roundworm in humans worldwide, only behind Ascaris lumbricoides, with an estimated half a billion people infected at any one time.There are two species that are human pathogens; Ancylostoma duodenale which is found in Africa, India, Europe and China, and Necator americanus, which is found in the Americas. However, many areas are endemic for both species.Hookworm disease caused by N. americanus is the prevailing species in the southeastern United States.You get hookworm in areas of unsanitary conditions where people defecate on the ground and the climate is favorable. Warm, moist climates and sandy soil are the environments hookworms thrive in. Infective larvae can survive up to a month in the soil under ideal conditions.Hookworm is not an issue in cold climates because the larvae cannot survive.People get infected by walking barefoot over contaminated soil where the hookworm larvae can penetrate the skin. It is a particular problem in farmers in developing nations worldwide. Also, small children get it by sitting bare-butt on the ground that has hookworm.Ancylostoma duodenale may also be acquired orally, transmammary and transplacentally.After the larvae penetrate the skin, it is carried in the bloodstream to the heart and then the lungs. Here they climb the windpipe and are swallowed to the intestines where they mature to adults.In the intestines, the adults attach and suck blood. The blood loss can be significant depending on the amount of worms present. A. duodenale drinks more blood per worm (0.2-0.3 ml) per day thanN. americanus (0.03 ml), and are therefore more pathogenic.The symptoms you may see depends on what stage of infection the person is in. During invasion when the larvae initially penetrate the skin, there may be a severe allergic reaction known as “ground itch”.While the larvae are migrating through the lungs, an infected person may experience a mild pneumonia with a cough.When adults are in the intestines, symptoms may include diarrhea, pain, and nausea.In very heavy infections, blood loss can reach 100 ml per day, resulting in iron deficiency anemia and weakness due to blood loss.In addition, protein deficiencies, enlarged liver and spleen (“pot-bellied children”) and developmental disorders like mental, physical and sexual may occur in severe hookworm disease.For more infectious disease news and information, visit and “like” the Infectious Disease News Facebook page

Clorox offers educational tools for norovirus, C. diff prevention

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In an effort to help healthcareprofessionals prevent and contain HAI's caused by norovirus and Clostridium difficile, Clorox Healthcare is offering free prevention tool kits, training materials and free samples of their products via their website.

See the Clorox offer here


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27 Kasım 2012 Salı

Food to Offer a Baby Turtle

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Turtles are one of the cutest pets that you can have that you can't cuddle with. They are small and when they are babies they are so cute and of course slow! Learning how to take care of a new baby turtle is not common knowledge because they are not popular pets. It's easy to know what to do with dogs and cats because almost everyone has one or the other and they pass the information down to other people.

When taking care of new turtles the first thing you will need to know is how and what to feed them to keep them healthy. There is a variety of turtle foods that are available in different sizes and shapes and can be made with different ingredients. You can buy flakes and small pellet foods that are sold specifically for baby turtles.

The most common food for turtles that you can purchase are turtle sticks. These are great for any type of turtles including the babies. Water turtles will most likely need to eat the much larger floating pellets - but again they can be given to most other turtles.

One thing that we urge you never use are dried whole shrimp and bugs. The way that these are sold is very questionable and may not be safe for any turtles and especially the babies. There are shrimp pellets that can be used as treats - but not as a main source of food.

In order for your baby turtle to get all of the necessary nutrients and vitamins to stay healthy you can continue to feed them the sticks, flakes, and pellets. They have been made to contain all of these important and healthy nutrients to keep your baby turtle strong and well cared for. You can feed them cooked eggs and poultry as well as the shells.

If you need a slight substitute in the diet than you should consider fish foods. Many fish food have the same types of ingredients as turtle food. Don't even waste your time trying to feed your baby turtle fruits and veggies. They won't eat them. Other foods to stay away from are raw seafood and other raw meats. These contain too much fat and could make them sick with salmonella.

If you have any questions or concerns about what else to feed your baby turtle and where to buy the right turtle food than ask your veterinarian. Your vet will be able to give you all the instructions you need and can answer any questions that you have.

Weaning Your Baby to Solid Food

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Weaning your breastfed baby is a slow and long process. Weaning is a gradual process of introducing baby to foods other than mother's milk. Experts recommend exclusively breastfeeding a baby till the age of 6 months. However, many doctors and parents prefer starting some liquid foods other than mother's milk, sometime between 4 and 6months, the closer it is to 6 months mark, the better.

By the time, your baby is 6 months old, she would have settled into some kind of rhythm (or may be not), of eating, sleeping etc. So, you know when she will expect her next feed. First time is extremely important. Do not rush. Ensure baby is relaxed and in a good mood.

A good weaning food to start is rice cereal, but if you do not want to start with commercially available rice cereals, you can start with many other things. Fruits like banana and apple are very popular and most kids love them. They are easy to digest and do not normally cause any allergies. Still, you can not be too careful, when it comes to feeding your baby. Follow the 3 days rule or may be 5 days, that's up to you. Taking it slow and following your baby's cues is extremely important.

The 3 day Rule

3 day rule simply means, whenever you introduce any new food item to your baby, you should wait for at least 3 days before introducing any thing else. This will ensure that you will be able to screen for any allergies if it happens. In case you notice anything like a rash, hives etc, stop that food immediately and wait for many weeks before trying again.

What to Give?

Rice Cereal - Take only one teaspoon of cereal and dissolve it in baby's milk or water. The consistency should be very very liquid, which can be fed to baby with a spoon. however, do not ever put cereal in baby's bottle, that can cause baby to choke.

Banana - Mash a small piece of banana or pass it through a strainer mix it with baby's milk to a thin consistency.

Applesauce - Clean and peel apple and cut into small pieces. Cook it well and pass it through a strainer, so that there are no lumps, again making it very thin.

How to Give?

Give only one teaspoon of whichever food you are giving. Make sure baby is not starving when you try this. Baby should be happy and relaxed to try the new experience. If your baby turns away head or seems averse to trying it, do not force. You want this to be happy experience not traumatic. Keep trying and gradually increase the amount over a week or so.

As baby grows, you can make food thicker and lumpier.

Priya Sachan is the promoter of ShishuWorld, which is a parenting and child care website and looks at providing expectant and new parents with a lot info and support. It also has features like a forum and a gaming section with original, educational and cute games with baby in focus.

Homemade Baby Food

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Making Homemade Baby Food

Making homemade baby food is not difficult. It is economically friendly and healthier than purchasing commercially prepared food for your baby. Baby food recipes range from puree to recipes incorporating table food into recipes for baby. It takes less time than you think to create fresh, healthy baby food. Making homemade food assures you and your baby no preservatives are used and baby is only getting nutritious and tasty food.

Things to Consider when Making Homemade Baby Food

Before making food for your baby, consult with your pediatrician, especially if this is the first somewhat solid food the baby will be eating. Your pediatrician will suggest foods to introduce to the baby and what foods should be eaten at specific ages or signs of maturing. If you choose fruits, vegetables and meat you like; your pediatrician may suggest better alternatives for different age groups.

Unless your baby displays a serious reaction to a certain food the first time they experience it, offer the baby the same food 4 days in a row. This method will allow time for a food allergy to manifest and will help determine the food the baby likes and dislikes. There will be some foods the baby will refuse to eat because of its taste, texture or smell, or even a combination of the three. It is not important for a baby to like everything offered. It is important the baby gets the right food with the proper nutrients. It is never a good idea to introduce a baby to more than one new food at a time for allergy discovering purposes.

Preparing the food ahead of time will be a tremendous time saver. A large quantity of food can be frozen in individual containers for future use. For example, the food can be frozen in ice cube trays and then transferred to another container for continued freezing. That method gives you baby food in easy to serve portions. The frozen portions will thaw quickly when set out on the counter or thawed in a microwave or submerging the contahner of hot water.

Precautions to take when making Homemade Baby Food

When preparing homemade baby food, always make sure your hands are clean, as well as the food preparation surface, pots or pans and cooking utensils. Wash fruits and vegetables thoroughly before preparing the baby food, and if meat is being prepared, rinse the meat with room temperature water. Always be sure the baby food containers are clean and sterilized for baby's protection.

Always put a date on the homemade baby food container and store it properly. Refrigerate or freeze the baby food for future use, after preparation. Freeze the baby food in small quantities and only thaw one portion at a time. Do not refreeze any leftover baby food. After a feeding session, any food left in the dish should be discarded.

When serving baby food, make sure the food is room temperature to slightly warm. If the food is heated in a microwave, stir the food thoroughly to make sure there are not hot spots that could potentially burn your baby's mouth.

The Baby Food Process

After rice based cereal, your baby will most likely move on to pureed fruits, vegetables and meat. Until you know what your baby will like, buy small quantities of fruits, vegetables and meat, unless other family members consume lots of fruits, vegetables and meat. After proper washing cut the fruit and vegetables in half and either boil, steam or bake them. If they are baked, place those in a baking dish with enough water to almost cover the dish contents. Vegetables and fruit can be peeled before or after cooking.

Small vegetables such as corn, peas and lima beans do not need to be halved. Bananas can just be mashed and not cooked at all unless that is your preference. Frozen peas are much easier to prepare than fresh peas. If preparing meat, make sure all traces of fat are removed and when cooked, make sure the meat is well done with no trace of pink.

Bake the fruits and vegetables for about an hour at 350 degrees (Fahrenheit) or until they are soft. During the cooking process make sure there is sufficient water in the dish to avoid burning the fruits and vegetables and add water if necessary. When the fruits and vegetables are baked, take the dish out of the oven and let cool. Peel the fruits and vegetables, if not already peeled, after they have cooled. Cook the meat until there is no pink showing.

Place the cooled fruit or vegetable in a food processor for pureeing. Add water to the mixture until the appropriate consistency is reached. If you add too much water, dry baby cereal can be added to thicken it up. If a food processor is not available, a hand mixer or a meat grinder will suffice or in the event a mechanical means is not available, mash the fruits and vegetables with a fork until there are no lumps present. That method will be very time consuming.

The food should be very thin for babies beginning to eat solid food, and as they grow older and have some solid food eating under their belt, the food can be made a little thicker. As the baby ages, the fruits and vegetables will just have to be chopped into small pieces rather than mashed or pureed.

Once you know what kind of fruits and vegetables your baby likes, you can mix different flavors together such as bananas and peaches or peas and squash.

Using Organic Fruits and Vegetables

Organic fruits and vegetables are grown without the benefit of, or with a limited amount of, synthetic material, such as pesticides or other chemicals. Organic food is grown according to regulations and certified and labeled as organically grown. Food organically grown develops antioxidants to protect themselves against garden pest and, as a result, develop into a vegetable or fruit with higher levels of antioxidants. That means the fruits and vegetables are richer in minerals, vitamins and other pro health nutrients.

Eating organically is not just for mom and dad, but baby too. Making organic baby food will assure you your baby is getting the real deal. Who is to say a jar of baby food marked as organic is really organic? Organic fruits and vegetables were once only available in health food stores, or they were home grown. Today, organic food of every kind is available not only in specialty stores, but the average, everyday grocery store.

Organic food is prepared the same way as any other food. They can be steamed, boiled or baked and then mashed or pureed. As the baby gets older, food can be cut into small, bit size pieces, making it finger food babies can eat on their own.

The Benefits of Making Homemade Baby Food

If you have ever read the label of baby food bought at the grocery store, you will find some ingredients you have never heard of before, and some you will not be able to pronounce. I like to make my own food. It gives me the ability to control the ingredients and the quality of the food.

Another benefit of making baby food is cost. It is far less costly to make baby food than to buy it by the jars, especially since the ingredients can be purchased in bulk and in season. Making homemade baby food will even be less costly if the ingredients are homegrown.

We provide great articles for parents and families. Our website will give a wide range of information like top ten lists for products and baby how to's. We keep the site fresh and current and every new or veteran parent should check it out: http://practicalbabystuff.com/

Bringing Out Your Company's Soul At a Trade Show

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 Have you ever been bedazzled by a theatrical trailer only to find out it completely misrepresented what the movie was about? False expectations can ruin a great movie. The same is true about what your trade show display tells visitors. If your trade show booth design doesn't embody the soul of your business, you're not doing your product justice.
So here are a few tips to help you imbue your custom trade show displays with the essence of your business.
Be true to yourself. You may have the most versatile vegetable peeler in the world, but fight the urge to try to be all things to all people. Focus your collateral material, your demos, and your talking points on what you do better than anyone. You'll be surprised how many people are willing to change their demand around a well presented product with a clear purpose. In fact, people love learning about novel ways to solve familiar problems, which leads us to our next tip.
Show off something fresh and unique. No one peruses custom trade show displays looking for the coolest thing from last year. Your brand is a living thing and people want to see life and progression. This doesn't mean you have to sit out the trade show just because you haven't invented a new product in awhile. Repackage what you have. Show what else is so unique about it. Make a minor design change. Little Giant Ladders revitalized sales for their ladder systems by adding a couple little wheels to move their ladder more easily. You can reinvent your product in the visitor's mind while maintaining your brands identity.
Sell a lifestyle, not just a product. This can be a challenge for a 10' by 6' trade show booth design. But why is there such a big market for high powered blenders right now? Not because the concept of a blender is new. It's because people love the idea of getting their nasty healthy leafy vegetables hidden in a delicious fruit smoothie. This idea is revolutionary. You're not selling a blender, you're pouring a refreshing 3-minute fitness smoothie down your customer's throat -- literally. Live demos are Blendtec's bread and butter. The best way to tell about the greatness of your product is to show it in action. Your customers will identify your brand with how it changes their lives, not just your product. So make sure your booth staff has the pitch or demo down well enough that your product can sell itself.
Insight Exhibits

1367 South 7th West

Salt Lake City, UT 84104

(801) 978-9000

Women's Health And Dizziness During Pregnancy

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A notable number of women experience dizziness during pregnancy. The scientific explanation for this is that, during that period, the body of a woman's body undergoes a lot of cardiovascular changes. The body is supposed to undergo self-initiating adaptive changes in its cardiovascular and nervous systems to enable normal functioning, especially in maintaining continuous supply of blood to the brain. The consequences of failure of such adaptive mechanisms include fainting and giddiness.

One of the significant changes that occur to women during gestation is an increase in the rate of heart beat. This is accompanied by increment in blood volumes by about 45%. They also undergo dilation of blood vessels, resulting in low blood pressure. A woman experiences the lowest blood pressure levels at around mid-pregnancy. This drop is only restored to normal close to the end of gestation period.

Medical experts have identified a number of ways that can help in handling dizziness. It is critical that a woman lies down if she experiences vertigo. This prevents her from suffering injury by falling. She should also stop doing any activity that may bring harm to her or others, for instance operating machinery or driving.

The basic cause of dizziness and fainting is an inadequate supply of blood to the brain. First aid measures, hence, should aim to restore this supply. One way of achieving this is by resting the victim in a horizontal position, but with the head slightly lower than the rest of the body. Where there is no space to lie, it is advisable that the victim sits, then put her head between her knees. The woman may also lie on her left side, since this increases blood flow to both the heart and the brain.

A woman's actions may increase the risk of her fainting or experiencing lightheadedness. Top on this list is a quick shift in position from either lying or sitting to standing. Blood pools around the feet and in lower legs during resting periods. The body may not be able to restore blood flow to the heart and brain upon springing from the rest position, hence resulting in dizziness. Therefore, it is advisable for pregnant women not to spring from resting positions to standing.

Blood may also pool around the feet when a person stands at the same position for prolonged periods. Expectant women are advisable to walk around after short periods of being stationary. In case this is not possible, exercising legs could also help improve blood circulation. Wearing support stockings has also been proven to improve circulation.

Pregnant woman should take note of their sleeping positions since how they sleep may increase chances of experiencing lightheadedness. A woman should not lie on their stomachs or backs during their second and third trimesters. This is because such positions cause the uterus to exert extra pressure on inferior vena cava, slowing circulation in the lower abdomen. They should lie of their left side instead.

Vasovagal syncope may also result in dizziness during pregnancy. This is a condition resulting from straining during activities such as urination or coughing, dehydration, pain or anxiety. Symptoms associated with this condition are a feeling of warmth, nausea, yawning, sweating and paleness. It is advisable to lie or sit upon experiencing such symptoms.

26 Kasım 2012 Pazartesi

TREM2 Variants in Alzheimer's Disease. [N Engl J Med. 2012] - PubMed - NCBI

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TREM2 Variants in Alzheimer's Disease. [N Engl J Med. 2012] - PubMed - NCBI

N Engl J Med. 2012 Nov 14. [Epub ahead of print]

TREM2 Variants in Alzheimer's Disease.

Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J; the Alzheimer Genetic Analysis Group.

Source

All the authors and their affiliations are listed in the Appendix.

Abstract

Background Homozygous loss-of-function mutations in TREM2, encoding the triggering receptor expressed on myeloid cells 2 protein, have previously been associated with an autosomal recessive form of early-onset dementia. Methods We used genome, exome, and Sanger sequencing to analyze the genetic variability in TREM2 in a series of 1092 patients with Alzheimer's disease and 1107 controls (the discovery set). We then performed a meta-analysis on imputed data for the TREM2 variant rs75932628 (predicted to cause a R47H substitution) from three genomewide association studies of Alzheimer's disease and tested for the association of the variant with disease. We genotyped the R47H variant in an additional 1887 cases and 4061 controls. We then assayed the expression of TREM2 across different regions of the human brain and identified genes that are differentially expressed in a mouse model of Alzheimer's disease and in control mice. Results We found significantly more variants in exon 2 of TREM2 in patients with Alzheimer's disease than in controls in the discovery set (P=0.02). There were 22 variant alleles in 1092 patients with Alzheimer's disease and 5 variant alleles in 1107 controls (P<0 .001=".001" 1887="1887" 4061="4061" a="a" additional="additional" alzheimer="alzheimer" an="an" and="and" are="are" as="as" associated="associated" association="association" between="between" by="by" commonly="commonly" conclusions="conclusions" confirmed="confirmed" control="control" controls="controls" did="did" differed="differed" direct="direct" disease.="disease." disease="disease" encoding="encoding" expression="expression" from="from" genomewide="genomewide" genotypes="genotypes" genotyping="genotyping" heterozygous="heterozygous" highly="highly" imputed="imputed" in="in" increase="increase" meta-analysis="meta-analysis" mice="mice" model="model" most="most" mouse="mouse" of="of" others.="others." p="p" patients="patients" r47h="r47h" rare="rare" research="research" risk="risk" rs75932628="rs75932628" s="s" series="series" showed="showed" significant="significant" studies="studies" the="the" this="this" trem2="trem2" uk="uk" unded="unded" variant="variant" variants="variants" with="with">
PMID:
23150934
[PubMed - as supplied by publisher]
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A new factor of genetic susceptibility to Alzheimer's disease

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A new factor of genetic susceptibility to Alzheimer's disease



Contact: presse
presse@inserm.fr
INSERM (Institut national de la santé et de la recherche médicale)

A new factor of genetic susceptibility to Alzheimer's disease

A large-scale international study involving French researchers from the Inserm-Institut Pasteur Lille-Université Lille Nord de France "Public health and molecular epidemiology of ageing-related diseases" joint research unit led by Philippe Amouyel, has just discovered a gene for susceptibility to a rare disease that causes susceptibility to a common one, Alzheimer's disease, providing evidence of the heterogeneous aetiology of Alzheimer's disease.
This whole-exome sequencing approach is explained in detail in The New England Journal of Medicine dated 14 November 2012.
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, or Nasu-Hakola disease, is a genetic disorder passed on by means of autosomal recessive transmission. The disease starts at the age of around 30 years with pains in the wrists or shoulders associated with swollen joints. Bone fractures can occur as a result of minor traumas. Bone x-rays show epiphyseal cysts. Slight personality changes then occur followed by frontal neurological signs (euphoria, loss of social inhibitions) evolving into early-onset dementia. The disorder has been associated with mutations of the TREM2 (Triggering Receptor Expressed on Myeloid cells 2) gene on chromosome 6.
British, American and French researchers have now shown that on this same region of chromosome 6, mutations of the TREM2 gene were associated with a five times greater risk of developing late-onset Alzheimer's disease. A complete sequencing was performed on 281 individuals with Alzheimer's disease and 504 controls. Analysis of the TREM2 gene showed excessive TREM2 mutations in those with the disease compared with the control subjects. Characterisation of one of these TREM2 mutations in very large sample populations of patients with Alzheimer's disease has allowed researchers to measure precisely the importance of this association between TREM2 mutations and the disease. Finally, a replication study was performed in another independent series of 1994 cases and 4602 controls, which confirmed this strong association (OR=4.97 CI 95% [2.42-10.21], P<6 .10-6=".10-6" p="p"> These results are also confirmed in the same edition of The New England Journal of Medicine by an Icelandic team, which also shows that this gene is a risk factor for Alzheimer's disease in the Finnish population and other European populations.
A pathological analysis of six individuals presenting variants of the TREM2 gene has revealed evidence of Alzheimer's-type brain lesions. The study of TREM2 gene expression in normal human brains has shown high levels in the white matter and in the hippocampus and cortex.
In a transgenic mouse model of Alzheimer's disease, an increase in TREM2 expression was observed in microglial cells surrounding the amyloid plaques and the neurons compared with normal mice. The TREM2 gene encodes a protein that participates in the activation of immune responses in macrophages and dendritic cells.
This discovery has two main consequences. Firstly, this observation provides a better understanding of the immune system's involvement in Alzheimer's disease in which the gene of complement receptor 1 (CR1) had already been implicated, in previous work by Inserm-Lille2-IPL UMR744 . Furthermore, this approach of whole-exome sequencing has allowed the discovery of a gene for susceptibility to a rare disease that causes susceptibility to a common disease, evidence of the heterogeneous aetiology of Alzheimer's disease. It is the loss of function of this gene in its homozygous or heterozygous variants that determines the nature of the disorder.
These results, which demonstrate how much progress has been made in understanding Alzheimer's disease, involved teams from LabEx DISTALZ, and were able to be produced partly through the support of the French Foundation for Scientific Cooperation on Alzheimer's and similar diseases, launched in February 2008.
###Ever-increasing longevity among the human population means the number of patients suffering from Alzheimer's disease is also on the rise in France and throughout the world. Alzheimer's is the leading cause of memory and intellectual function disorders among elderly people and represents a major public health issue.
Alzheimer's disease is one of the main causes of dependency among the elderly. It results from neurodegeneration in different areas of the brain. Its symptoms include increasing impairment of memory and cognitive functions, and behaviour disorders that lead to a progressive loss of independence. In France, Alzheimer's disease affects more than 850,000 people and represents major social and economic costs.
Alzheimer's disease is characterized by the development of two types of lesion in the brain: amyloid plaques and neurofibrillary tangles. Amyloid plaques originate from the extracellular accumulation of a peptide, the beta amyloid peptide, in specific areas of the brain. Neurofibrillary tangles are intraneuronal lesions caused by abnormal filamentary aggregation of a protein known as a tau protein.
Identifying the genes that participate in the incidence of Alzheimer's disease and its development will make it possible to tackle the physiopathological mechanisms behind this affliction more rapidly, to identify the target proteins and metabolic channels for new treatments, and to provide a means of identifying the individuals that are most at risk when effective preventive treatments become available.

AJHG - Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

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AJHG - Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

Copyright © 2012 The American Society of Human Genetics All rights reserved.
The American Journal of Human Genetics, 15 November 2012doi:10.1016/j.ajhg.2012.10.007Article

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

Simone Sanna-Cherchi12Krzysztof Kiryluk1Katelyn E. Burgess1Monica Bodria3Matthew G. Sampson5Dexter Hadley4Shannon N. Nees1Miguel Verbitsky1Brittany J. Perry1Roel Sterken1Vladimir J. Lozanovski6Anna Materna-Kiryluk7Cristina Barlassina89Akshata Kini4Valentina Corbani10Alba Carrea3Danio Somenzi11Corrado Murtas3Nadica Ristoska-Bojkovska6Claudia Izzi12Beatrice Bianco11Marcin Zaniew13Hana Flogelova14Patricia L. Weng1Nilgun Kacak1Stefania Giberti11Maddalena Gigante15Adela Arapovic16Kristina Drnasin17Gianluca Caridi3Simona Curioni8Franca Allegri18Anita Ammenti19Stefania Ferretti20Vinicio Goj21Luca Bernardo21Vaidehi Jobanputra22Wendy K. Chung23Richard P. Lifton24Stephan Sanders24Matthew State24Lorraine N. Clark25Marijan Saraga1626Sandosh Padmanabhan27Anna F. Dominiczak27Tatiana Foroud28Loreto Gesualdo15Zoran Gucev6Landino Allegri11Anna Latos-Bielenska7Daniele Cusi8Francesco Scolari12Velibor Tasic6Hakon Hakonarson45Gian Marco Ghiggeri3 and Ali G. Gharavi1Go To Corresponding Author 
1 Division of Nephrology, Columbia University, New York, NY 10023, USA
2 Department of Internal Medicine, St. Luke’s-Roosevelt Hospital Center, New York, NY 10019, USA
3 Division of Nephrology, Dialysis, and Transplantation, G. Gaslini Institute, Genoa 16147, Italy
4 Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA
5 Department of Pediatrics, University of Pennsylvania, Philadelphia, PA 19104, USA
6 Division of Pediatric Nephrology, University Children’s Hospital, Skopje 1000, Macedonia
7 Polish Registry of Congenital Malformations, Poznan 60352, Poland
8 Division of Nephrology, San Paolo Hospital, Milan 20142, Italy
9 Department of Medicine, Surgery, and Dentistry, University of Milan, Milan 20142, Italy
10 SC of Nephrology and Dialysis, Sant’Andrea Hospital, La Spezia 19100, Italy
11 Department of Clinical Medicine, Nephrology and Health Sciences, University of Parma, Parma 43100, Italy
12 Chair of Nephrology, University of Brescia and Division of Nephrology, Montichiari Hospital, Montichiari 25018, Italy
13 Department of Pediatrics, Nephrology and Toxicology, District Children Hospital, Szczecin 70111, Poland
14 Faculty of Medicine, Palacky University, Olomouc 77200, Czech Republic
15 Department of Biomedical Sciences, University of Foggia, Foggia 71100, Italy
16 Department of Pediatrics, University Hospital of Split, Split 21000, Croatia
17 Pediatric Outpatient Clinic, Solin 21210, Croatia
18 Department of Clinical Sciences, University of Parma, Parma 43100, Italy
19 Department of Pediatrics, University of Parma, Parma 43100, Italy
20 Division of Urology, Parma University Hospital, Parma 43100, Italy
21 SC of Pediatrics, Fatebenefratelli Hospital, Milan 21121, Italy
22 Department of Pathology, Columbia University, New York, NY 10032, USA
23 Department of Pediatrics, Division of Clinical Genetics, Columbia University, New York, NY 10032, USA
24 Department of Genetics, Yale University, New Haven, CT 06520, USA
25 Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, New York, NY 10032, USA
26 University of Split, School of Medicine, Split 21000, Croatia
27 Institute of Cardiovascular and Medical Sciences, College of Medical Veterinary and Life Sciences, University of Glasgow, Glasgow G128QQ, UK
28 Indiana University School of Medicine, Indianapolis, IN 46202, USACorresponding author

Abstract

We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 × 10−11). This excess was attributable to known and novel (i.e., not present in any database or in the literature) genomic disorders. All together, 55/522 (10.5%) RHD cases harbored 34 distinct known genomic disorders, which were detected in only 0.2% of 13,839 population controls (p = 1.2 × 10−58). Another 32 (6.1%) RHD cases harbored large gene-disrupting CNVs that were absent from or extremely rare in the 13,839 population controls, identifying 38 potential novel or rare genomic disorders for this trait. Deletions at the HNF1B locus and the DiGeorge/velocardiofacial locus were most frequent. However, the majority of disorders were detected in a single individual. Genomic disorders were detected in 22.5% of individuals with multiple malformations and 14.5% of individuals with isolated urinary-tract defects; 14 individuals harbored two or more diagnostic or rare CNVs. Strikingly, the majority of the known CNV disorders detected in the RHD cohort have previous associations with developmental delay or neuropsychiatric diseases. Up to 16.6% of individuals with kidney malformations had a molecular diagnosis attributable to a copy-number disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances. A search for pathogenic CNVs should be considered in this population for the diagnosis of their specific genomic disorders and for the evaluation of the potential for developmental delay.