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Sample records for genetic studies qatar

  1. Qatar.

    PubMed

    1987-11-01

    Qatar is an oil-exporting Arab country that juts out from the north coast of Saudi Arabia into the Persian Gulf. Fewer than half of the 320,000 population are Arabs, however, most are Pakistani, Indian, Iranian and Egyptian foreign workers. Education is compulsory to age 16, and 60% are literate. Oil and refined petroleum products account for the $2 billion trade surplus, amounting to a $27,000 annual per capita income. The government is centralized and run by consensus under the Amir, head of the Al Thani, or ruling family. Political parties are banned. Qatar is evolving from a traditional to a modern welfare state. PMID:12177955

  2. Qatar.

    PubMed

    1992-04-01

    Qatar is a country of 11,437 sq. km with 400,000 inhabitants, of whom 65% are literate. Independence was gained on September 3, 1971. The terrain consists of flat, barren desert, with a hot and dry climate. Arabic and English are spoken by Arab, South Asian, and Iranian ethnic groups who are largely of the Islamic faith. Life expectancy is 58 years. The gross domestic product is $5.2 billion, growing at a rate of 4%. Per capita income is $13,000. The country's natural resources include petroleum, natural gas, and fish. Oil production, refining, natural gas development, fishing, cement, power/desalinization plants, petrochemicals, steel, and fertilizers are areas of economic production. Industrial and consumer goods are imported and oil is exported. In-depth information is also given on the people and history, government and principal officials, political conditions, the economy, defense, foreign relations, relations with the US, and names of principal US officials in the country. PMID:12178044

  3. Proposed artificial recharge studies in northern Qatar

    USGS Publications Warehouse

    Kimrey, J.O.

    1985-01-01

    The aquifer system in northern Qatar comprises a water-table aquifer in the Rus Formation which is separated by an aquitard from a partially confined aquifer in the top of the overlying Umm er Radhuma Formation. These two aquifers are composed of limestone and dolomite of Eocene and Paleocene age and contain a fragile lens of freshwater which is heavily exploited as a source of water for agricultural irrigation. Net withdrawals are greatly in excess of total recharge, and quality of ground water is declining. Use of desalinated seawater for artificial recharge has been proposed for the area. Artificial recharge, on a large scale, could stabilize the decline in ground-water quality while allowing increased withdrawals for irrigation. The proposal appears technically feasible. Recharge should be by injection to the Umm er Radhuma aquifer whose average transmissivity is about 2,000 meters squared per day (as compared to an average of about 200 meters squared per day for the Rus aquifer). Implementation of artificial recharge should be preceded by a hydrogeologic appraisal. These studies should include test drilling, conventional aquifer tests, and recharge-recovery tests at four sites in northern Qatar. (USGS)

  4. An exploratory study on medications in Qatar homes

    PubMed Central

    Kheir, N; Hajj, MS El; Wilbur, K; Kaissi, RML; Yousif, A

    2011-01-01

    Background Drug therapy is the most often used intervention for treatment and prevention of disease. However, if used inappropriately, drugs can cause more harm than good. Improper drug storage and disposal can have a direct impact on public safety, the environment, and the health care services. The purpose of this study was to characterize medications stored in Qatar homes and to explore their methods of storage and disposal, and to identify the public’s source of information related to medicines. Methods For the purpose of this cross-sectional exploratory study, a list of telephone numbers was generated from Qatar’s telephone directory using a systematic sampling method. Individuals consenting to participate were interviewed using a multipart pretested survey instrument. Results Data were collected from a total of 49 homes. Most respondents did not have a designated compartment or box specifically for storing medications. The majority of drugs (48%) were kept in bedrooms and a number of respondents were keeping their drugs in the fridge and in the kitchen. The most often stored classes of medicines were analgesics, antihistamines, nutritional supplements, and medications used for the respiratory system. Most respondents disposed of unwanted medicines by throwing them in the trash. In about 15% of cases, the dosage of drug taken was different from the instructions on the label. Sharing of prescription medicines was not uncommon. The majority of respondents sought information related to drugs from doctors. Conclusion These findings raise concerns about how medications are stored and disposed of in the community. The fact that no household routinely returned unwanted medications to a pharmacy for proper disposal places the environment at risk. There is a need for more societal awareness about the safe handling and storage of drugs in the home, and about the professional role of the pharmacist. PMID:22279414

  5. An assessment of patients’ knowledge of osteoporosis in Qatar: A pilot study

    PubMed Central

    Hammoudeh, Samer; Abdelrahman, Magdi Hassan; Chandra, Prem; Hammoudeh, Mohammed

    2015-01-01

    Osteoporosis is a disease that affects the bones. It leads to increased risk of fractures as a result of decreased bone mineral density. The goal of this study was to assess the general perception of osteoporosis as well as knowledge of lifestyle, risk factors, and preventive measures among patients in Qatar. The study was conducted between September 2013 and September 2014. The study subjects (n = 93) were patients diagnosed with osteoporosis who attended the Outpatient Rheumatology Clinic at Hamad General Hospital in Doha, Qatar. The results showed that those with a university or graduate degree had a significantly higher level of knowledge about osteoporosis (p = 0.009) than those with less education. Among those in our study, knowledge related to osteoporosis was principally obtained through media sources such as television and radio (39%). In conclusion, osteoporosis patients in Qatar need a better understanding of the disease. Identifying thought patterns related to the perception of osteoporosis and treatment might assist in building a foundation for management modalities and effective preventive strategies for the disease in Qatar. PMID:26835409

  6. Trends and characteristics of injuries in the State of Qatar: hospital-based study.

    PubMed

    Bener, Abdulbari; Abdul Rahman, Yassir S; Abdel Aleem, Eltayib Y; Khalid, Muayad K

    2012-01-01

    Injuries account for a large burden of mortality and morbidity in the State of Qatar. No comprehensive study has been conducted on all types of injuries in the State of Qatar. The objective of this study was to determine the trend in the number, incidence and pattern of injuries in the State of Qatar. This hospital-based study is a retrospective analysis of 53,366 patients treated at the accident and emergency and trauma centres for injuries during the period from 2006 to 2010. Injuries were determined according to the ICD 10 criteria. The details of the entire trauma patients who were involved in occupational/domestic injuries were extracted from the database of the Emergency Medical Services (EMS), Hamad Medical Corporation. Our results demonstrated that the rates of injury remained relatively stable in the State of Qatar over the five-year period. Those most at risk of injury were non-Qatari males who were below 30 years. Road traffic accidents (RTA) (36.7%) followed by falls causing back injuries (11.0%) were the most common types of injuries during the period. Most of the injuries occurred at the head for both males (17.7%) and females (13.5%); this was consistently the case across all of the age groups. The greatest proportion of RTA (21.2%), industrial machinery injuries (16.4%), construction injuries (15.5%), recreational sporting injuries (20.5%) and beach/sea/ocean injuries (15.0%) resulted in head injuries. Intervention efforts need to be aimed at reducing occupational injuries, RTA injuries and work-related hazards in the State of Qatar. PMID:22455450

  7. Public’s attitudes towards community pharmacy in Qatar: a pilot study

    PubMed Central

    El Hajj, Maguy Saffouh; Salem, Samah; Mansoor, Hend

    2011-01-01

    Objectives To assess the public’s attitudes towards the community pharmacist’s role in Qatar, to investigate the public’s use of community pharmacy, and to determine the public’s views of and satisfaction with community pharmacy services currently provided in Qatar. Materials and methods Three community pharmacies in Qatar were randomly selected as study sites. Patients 16 years of age and over who were able to communicate in English or Arabic were randomly approached and anonymously interviewed using a multipart pretested survey. Results Over 5 weeks, 58 patients were interviewed (60% response rate). A total of 45% of respondents perceived community pharmacists as having a good balance between health and business matters. The physician was considered the first person to contact to answer drug- related questions by 50% of respondents. Most patients agreed that the community pharmacist should provide them with the medication directions of use (93%) and advise them about the treatment of minor ailments (79%); however, more than 70% didn’t expect the community pharmacist to monitor their health progress or to perform any health screening. Half of the participants (52%) reported visiting the pharmacy at least monthly. The top factor that affected a patient’s choice of any pharmacy was pharmacy location (90%). When asked about their views about community pharmacy services in Qatar, only 37% agreed that the pharmacist gave them sufficient time to discuss their problem and was knowledgeable enough to answer their questions. Conclusion This pilot study suggested that the public has a poor understanding of the community pharmacist’s role in monitoring drug therapy, performing health screening, and providing drug information. Several issues of concern were raised including insufficient pharmacist– patient contact time and unsatisfactory pharmacist knowledge. To advance pharmacy practice in Qatar, efforts may be warranted to address identified issues and to

  8. Observational study of atmospheric surface layer and coastal weather in northern Qatar

    NASA Astrophysics Data System (ADS)

    Samanta, Dhrubajyoti; Sadr, Reza

    2016-04-01

    Atmospheric surface layer is the interaction medium between atmosphere and Earth's surface. Better understanding of its turbulence nature is essential in characterizing the local weather, climate variability and modeling of turbulent exchange processes. The importance of Middle East region, with its unique geographical, economical and weather condition is well recognized. However, high quality micrometeorological observational studies are rare in this region. Here we show experimental results from micrometeorological observations from an experimental site in the coastal region of Qatar during August-December 2015. Measurements of winds are obtained from three sonic anemometers installed on a 9 m tower placed at Al Ghariyah beach in northern Qatar (26.08 °N, 51.36 °E). Different surface layer characteristics is analyzed and compared with earlier studies in equivalent weather conditions. Monthly statistics of wind speed, wind direction, temperature, humidity and heat index are made from concurrent observations from sonic anemometer and weather station to explore variations with surface layer characteristics. The results also highlights potential impact of sea breeze circulation on local weather and atmospheric turbulence. The observed daily maximum temperature and heat index during morning period may be related to sea breeze circulations. Along with the operational micrometeorological observation system, a camera system and ultrasonic wave measurement system are installed recently in the site to study coastline development and nearshore wave dynamics. Overall, the complete observational set up is going to provide new insights about nearshore wind dynamics and wind-wave interaction in Qatar.

  9. Case study on combined CO₂ sequestration and low-salinity water production potential in a shallow saline aquifer in Qatar.

    PubMed

    Ahmed, Tausif Khizar; Nasrabadi, Hadi

    2012-10-30

    CO₂ is one of the byproducts of natural gas production in Qatar. The high rate of natural gas production from Qatar's North Field (world's largest non-associated gas field) has led to the production of significant amounts of CO₂. The release of CO₂ into the atmosphere may be harmful from the perspective of global warming. In this work, we study the CO₂ sequestration potential in Qatar's Aruma aquifer. The Aruma aquifer is a saline aquifer in the southwest of Qatar. It occupies an area of approximately 1985 km₂ on land (16% of Qatar's total area). We have developed a compositional model for CO₂ sequestration in the Aruma aquifer on the basis of available log and flow test data. We suggest water production at some distance from the CO₂ injection wells as a possible way to control the pore pressure. This method increases the potential for safe sequestration of CO₂ in the aquifer without losing integrity of the caprock and without any CO₂ leakage. The water produced from this aquifer is considerably less saline than seawater and could be a good water source for the desalination process, which is currently the main source of water in Qatar. The outcome of the desalination process is water with higher salinity than the seawater that is currently discharged into the sea. This discharge can have negative long-term environmental effects. The water produced from the Aruma aquifer is considerably less saline than seawater and can be a partial solution to this problem. PMID:22672956

  10. Project analysis procedures for an OPEC country: case study of Qatar's Northwest Dome Gas Project

    SciTech Connect

    Ali, A.B.; Khalifah, H.

    1986-01-01

    The discovery of oil in most OPEC countries in the 1940s changed the economies of these countries from a state of capital shortage and stagnation to a state of capital surplus and economic growth. This growth, however, is lopsided. Oil production and export dominate the gross domestic products (GDPs) of those economies. Concern arising during the 1970s about overdependence on crude oil export as the main source of national income has resulted in the initiation of various industrial development programs in OPEC states aiming to diversify their economies. This study was conducted with two primary objectives: (1) to identify and understand the features of selected OPEC countries' development problems, strategies and plans, focusing on the role of oil and gas resources and opportunities for diversification, and (2) to suggest an appropriate development strategy, with project evaluation implications, for capital-abundant, labor-scarce OPEC countries in the Gulf region such as Qatar. This proposed approach is designed to evaluate the project from its contribution to the national income, people's welfare, the expansion of the economy's absorptive capacity, and relief of the economy's dependence on nonrenewable resources. The Northwest Dome Gas Project in Qatar was selected as an illustrative case study for this approach.

  11. Prehospital versus Emergency Room Intubation of Trauma Patients in Qatar: A-2-year Observational Study

    PubMed Central

    Al-Thani, Hassan; El-Menyar, Ayman; Latifi, Rifat

    2014-01-01

    Background: The impact of prehospital intubation (PHI) in improving outcome of trauma patients has not been adequately evaluated in the developing countries. Aims: The present study analyzed the outcome of PHI versus emergency room intubation (ERI) among trauma patients in Qatar. Materials and Methods: Data were retrospectively reviewed for all intubated trauma patients between 2010 and 2011. Patients were classified according to location of intubation (PHI: Group-1 versus ERI: Group-2). Data were analyzed and compared. Results: Out of 570 intubated patients; 482 patients (239 in group-1 and 243 in group-2) met the inclusion criteria with a mean age of 32 ΁ 14.6 years Head injury (P = 0.003) and multiple trauma (P = 0.004) were more prevalent in group-1, whereas solid organ injury predominated in group-2 (P = 0.02). Group-1 had significantly higher mean injury severity scoring (ISS), lower Glasgow coma scale (GCS), greater head abbreviated injury score and longer activation, response, scene and total emergency medical services times. The mortality was higher in group-1 (53% vs. 18.5%; P = 0.001). Multivariate analysis showed that GCS [odds ratio (OR) 0.78, P = 0.005) and ISS (OR 1.12, P = 0.001) were independent predictors of mortality. Conclusions: PHI is associated with high mortality when compared with ERI. However, selection bias cannot be ruled out and therefore, PHI needs further critical assessment in Qatar. PMID:24678471

  12. Patterns in Place of Cancer Death in the State of Qatar: A Population-Based Study

    PubMed Central

    Mohsen, Hassan; Haddad, Pascale; Allam, Ayman; Hassan, Azza

    2014-01-01

    Background International studies show that most people prefer to die at home; however, hospitals remain the most common place of death (PoD). This study aims to investigate the patterns in PoD and the associated factors, which are crucial for end-of-life cancer care enhancement. Method This retrospective, population-based study analyzed all registered cancer deaths in Qatar between January 1, 2006 and December 31, 2012 (n = 1,224). The main outcome measures were patient characteristics: age, gender, nationality, cancer diagnosis, year of death, and PoD. Time trends for age-standardized proportions of death in individual PoDs were evaluated using chi-square analysis. Odds ratio (OR) were determined for variables associated with the most preferred (acute palliative care unit [APCU] and hematology/oncology ward) versus least preferred (ICU and general medicine ward) PoDs in Qatar, stratified by nationality. Results The hematology/oncology ward was the most common PoD (32.4%; 95% CI 26.7–35.3%) followed by ICU (31.4%; 95% CI 28.7–34.3%), APCU (26.9%; 95% CI 24.3–29.6%), and general medicine ward (9.2%; 95% CI 7.6–11.1%). APCU trended upward (+0.057/year; p<0.001), while the hematology/oncology ward trended downward (−0.055/year; p<0.001). No statistically significant changes occurred in the other PoDs; home deaths remained low (0.4%; 95% Cl 0.38–0.42). Qataris who died from liver cancer (OR 0.23) and aged 65 or older (OR 0.64) were less likely to die in the APCU or hematology/oncology ward (p<0.05). Non-Qataris who died from pancreatic cancer (OR 3.12) and female (OR 2.05) were more likely to die in the APCU or hematology/oncology ward (p<0.05). Both Qataris and non-Qataris who died from hematologic malignancy (OR 0.18 and 0.41, respectively) were more likely to die in the ICU or general medicine ward (p<0.05). Conclusion A high percentage of cancer deaths in Qatar occur in hospital. As home was the preferred PoD for most people, effective home care and

  13. Study exploring depression and cardiovascular diseases amongst Arabic speaking patients living in the State of Qatar: Rationale and methodology

    PubMed Central

    Donnelly, Tam Truong; Al Suwaidi, Jassim M; Alqahtani, Awad; Assad, Nidal; Qader, Najla Abdul; Byrne, Carolyn; Singh, Rajvir; Fung, Tak Shing

    2012-01-01

    Abstract: In Qatar, cardiovascular diseases are the leading cause of death. Studies show that depression is associated with an increased morbidity and mortality among cardiovascular patients. Thus, early detection of, and intervention for, depression among cardiovascular patients can reduce cardiovascular morbidity and mortality, and save health care costs. To date there is no study in the Gulf region exploring depression among cardiovascular patients. The goals of our three-phase research program are to (1) understand the mental health issues, specifically depression, as experienced by cardiovascular patients living in the State of Qatar; (2) identify and implement strategies that would prevent depression and assist patients to deal with depression; and (3) evaluate, facilitate, and sustain strategies that are effective at reducing depression and foster its treatment among cardiovascular patients. This paper describe phase I of the research program. Using both quantitative and qualitative research methodologies, we will investigate (1) the prevalence and severity of depression among patients who have confirmed diagnosis of cardiovascular diseases (2) how contextual factors such as social, cultural, and economic factors contribute to the risk of depression and its management among cardiovascular patients, and (3) formulate effective intervention strategies that are expected to increase awareness, prevention of and treatment for depression among cardiovascular patients, thus reducing cardiovascular diseases morbidity and mortality in Qatar. PMID:24688991

  14. Acinetobacter Infections among Adult Patients in Qatar: A 2-Year Hospital-Based Study.

    PubMed

    Al Samawi, Musaed Saad; Khan, Fahmi Yousef; Eldeeb, Yasser; Almaslamani, Muna; Alkhal, Abdullatif; Alsoub, Hussam; Ghadban, Wissam; Howady, Faraj; Hashim, Samar

    2016-01-01

    This retrospective study was conducted at Hamad General Hospital, Qatar, to describe the demographic data, clinical features underlying diseases, antimicrobial susceptibility, and outcome of A. baumannii infection. It involved all adult patients 15 years of age or older who were managed at Hamad General Hospital for A. baumannii infection from January 1, 2012, to December 31, 2013. We identified a total of 239 patients with A. baumannii infection, of which 182 (76.2%) were males. The mean age was 49.10 ± 19.57 years. The majority of the episodes (25.1%) occurred in elderly patients (≥65 years) and the most commonly identified site of A. baumannii infection was the respiratory tract, 117 (48.9%). Most episodes of infection, 231 (96.7%), were hospital-acquired and high rate of nosocomial infections occurred in the medical intensive care unit, 66 (28.6%). All patients had underlying medical conditions. Maximum resistance was seen to cefotaxime, 147 (58.3%), and minimum resistance was seen to colistin, 2 (1.4%). Of the 239 isolates, 102 (42.7%) were susceptible and 137 (57.3%) were multidrug-resistant. The in-hospital mortality in our study was 31%. Male gender, multidrug resistance, and septic shock were found to be independent mortality predictors. PMID:27433169

  15. Acinetobacter Infections among Adult Patients in Qatar: A 2-Year Hospital-Based Study

    PubMed Central

    Al Samawi, Musaed Saad; Khan, Fahmi Yousef; Eldeeb, Yasser; Almaslamani, Muna; Alkhal, Abdullatif; Alsoub, Hussam; Ghadban, Wissam; Howady, Faraj; Hashim, Samar

    2016-01-01

    This retrospective study was conducted at Hamad General Hospital, Qatar, to describe the demographic data, clinical features underlying diseases, antimicrobial susceptibility, and outcome of A. baumannii infection. It involved all adult patients 15 years of age or older who were managed at Hamad General Hospital for A. baumannii infection from January 1, 2012, to December 31, 2013. We identified a total of 239 patients with A. baumannii infection, of which 182 (76.2%) were males. The mean age was 49.10 ± 19.57 years. The majority of the episodes (25.1%) occurred in elderly patients (≥65 years) and the most commonly identified site of A. baumannii infection was the respiratory tract, 117 (48.9%). Most episodes of infection, 231 (96.7%), were hospital-acquired and high rate of nosocomial infections occurred in the medical intensive care unit, 66 (28.6%). All patients had underlying medical conditions. Maximum resistance was seen to cefotaxime, 147 (58.3%), and minimum resistance was seen to colistin, 2 (1.4%). Of the 239 isolates, 102 (42.7%) were susceptible and 137 (57.3%) were multidrug-resistant. The in-hospital mortality in our study was 31%. Male gender, multidrug resistance, and septic shock were found to be independent mortality predictors. PMID:27433169

  16. Is diabetes management in primary care improving clinical outcomes? A study in Qatar.

    PubMed

    Mochtar, I; Al-Monjed, M F

    2015-04-01

    There has been little research into the effectiveness of primary-care diabetes clinics in the Middle East. This study in Qatar compared patient outcomes at a primary-care facility with a dedicated diabetes clinic and one without. Using a cross-sectional method, data on demographics, diabetes status and 6 clinical outcomes of diabetes care were collected from the records of patients who visited the clinics during 2012. Diabetes management in both facilities improved clinical outcomes over the 1-year observation period. The mean total cholesterol of patients attending the special clinic (n = 102) decreased significantly from 4.66 to 4.27 mmol/dL and LDL cholesterol from 3.42 to 3.22 mmol/dL. The LDL cholesterol of patients receiving standard care (n = 108) reduced significantly from 3.41 to 3.22 mmol/dL and HDL cholesterol increased from 0.83 to 0.87 mmol/dL. Inter-provider comparisons indicated that the outcomes in the facility with a diabetes clinic were not superior to those in the facility with standard care. PMID:26077518

  17. Attitudes toward science among grades 3 through 12 Arab students in Qatar: findings from a cross-sectional national study

    NASA Astrophysics Data System (ADS)

    Said, Ziad; Summers, Ryan; Abd-El-Khalick, Fouad; Wang, Shuai

    2016-03-01

    This study assessed students' attitudes toward science in Qatar. A cross-sectional, nationwide probability sample representing all students enrolled in grades 3 through 12 in the various types of schools in Qatar completed the 'Arabic Speaking Students' Attitudes toward Science Survey' (ASSASS). The validity and reliability of the 32-item instrument, encompassing five sub-scales, have already been shown to be robust. The present analysis focused on responses from 1978 participants representing the students who completed the ASSASS in Arabic. Descriptive statistics were computed and a competing pair of multiple indicators multiple causes models is presented that attempt to link patterns in students' responses to the ASSASS with a set of indicators. The final model retained student age, gender, nationality (i.e. Qatari vs. Non-Qatari Arab), and school type as indicators. Findings from this study suggest that participants' attitudes toward science decrease with age, and that these attitudes and related preferences are influenced by students' nationality and the type of school they attend. Equally important, the often-reported advantages for male over female precollege students in terms of attitudes toward science were much less prominent in the present study.

  18. Challenges and Opportunities of US and Arab Collaborations in Health Services Research: A Case Study from Qatar

    PubMed Central

    Hammoud, Maya M.; Elnashar, Maha; Abdelrahim, Huda; Khidir, Amal; Elliott, Heather A.K.; Killawi, Amal; Padela, Aasim I.; Khal, Abdul Latif Al; Bener, Abdulbari; Fetters, Michael D.

    2012-01-01

    Economic globalization and advances in technology have made it more feasible and even necessary to develop international research collaborations in global public health. Historically, collaborations in global research described in the literature have been mostly “North-South” collaborations in which the more developed “North” country works together with a developing “South” country to conduct research in the latter. This type of collaboration has for the most part, represented unequal partnership and rarely left behind a lasting impact. Recently, the opportunity for a new kind of international research partnership has emerged in which the host country has significant financial resources, but relatively limited expertise in research methodology or techniques and research implementation. This type of collaboration features a relative equalization of power between the international partners. The purpose of this paper is to describe the process of building a successful research collaboration between a team in the United States and a team in Qatar, a rich Arabic nation in Gulf. We present a case study that provides an overview of our own project focused on the development of a culturally and linguistically adapted health care quality instrument for Qatar, discussing many of the benefits and challenges we encountered during each phase of instrument development. We present recommendations for researchers seeking sustainable and equitable partnerships with the Arab World. PMID:23121751

  19. Challenges and opportunities of US and Arab collaborations in health services research: a case study from Qatar.

    PubMed

    Hammoud, Maya M; Elnashar, Maha; Abdelrahim, Huda; Khidir, Amal; Elliott, Heather A K; Killawi, Amal; Padela, Aasim I; Al Khal, Abdul Latif; Bener, Abdulbari; Fetters, Michael D

    2012-11-01

    Economic globalization and advances in technology have made it more feasible and even necessary to develop international research collaborations in global public health. Historically, collaborations in global research described in the literature have been mostly "North-South" collaborations in which the more developed "North" country works together with a developing "South" country to conduct research in the latter. This type of collaboration has for the most part, represented unequal partnership and rarely left behind a lasting impact. Recently, the opportunity for a new kind of international research partnership has emerged in which the host country has significant financial resources, but relatively limited expertise in research Methodology or techniques and research implementation.  This type of collaboration features a relative equalization of power between the international partners. The purpose of this paper is to describe the process of building a successful research collaboration between a team in the United States and a team in Qatar, a rich Arabic nation in Gulf. We present a case study that provides an overview of our own project focused on the development of a culturally and linguistically adapted health care quality instrument for Qatar, discussing many of the benefits and challenges we encountered during each phase of instrument development. We present recommendations for researchers seeking sustainable and equitable partnerships with the Arab World. PMID:23121751

  20. A retrospective epidemiological study on the incidence of salmonellosis in the State of Qatar during 2004–2012

    PubMed Central

    Farag, Elmoubasher; Garcell, Humberto Guanche; Ganesan, Nandakumar; Ahmed, Shazia Nadeem N.; Al-Hajri, Mohammed; Al Thani, Shk. Mohammed Hamad J.; Al-Marri, Salih Ali; Ibrahim, Emad; Al-Romaihi, Hamad Eid

    2016-01-01

    Background: Salmonella is a food- and water-borne pathogen that can be easily spread in a population, leading to the outbreak of salmonellosis that is caused by ingestion of mixed salads contaminated by the pathogen. Most cases occur in the late spring months and can be seen as single cases, clusters, or episodes. Objective: The aim of this study was to describe the incidence and epidemiological characteristics of salmonellosis in the State of Qatar. Methods: This was a retrospective, descriptive study carried out in laboratory-confirmed cases of salmonellosis during 2004–2012 from all Salmonella surveillance centers. Therapeutic records of patients who were clinically suspected of having Salmonella diseases were analyzed. Initially, cases with typhoid fever were investigated in the laboratory by means of Widal agglutination tests, while non-typhoidal Salmonella diseases were determined based on culture technique. Results: The annual incident of salmonellosis cases were 12.3, 23.0, 30.3, 19.4, 15.3, 18.0, 22.7, 18.5, and 18.1 per 100,000 population in 2006–2011 and 2012, respectively. The number of salmonellosis cases was high among less than 2-year-old females and 3-year-old males. In addition, one-fourth of patients (27.7%) were Qatari when compared to other nationalities. A significant difference in age was found between Qatari (6.08 ± 12.28 years) and non-Qatari (15.04 ± 19.56 years) patients. Of the reported cases, 79.8% included the onset date of the first symptoms. Contact phone numbers were available for 94% of the cases but addresses were available for only 50.4% of cases. The time difference between onset of symptoms and diagnosis was 5.4 ± 5.7 days. The most frequent serotype reported were type b (41.9%), type d (26.9%), and type c1 (12.2%). Conclusion: The present surveillance data showed a high incidence of salmonellosis in Qatar that poses a serious public health problem. Special intervention and health awareness programs are required for

  1. Assessment of learning and study strategies of university students in Qatar using an Arabic translation of the Learning and Study Strategies Inventory.

    PubMed

    Alkhateeb, Haitham M; Nasser, Ramzi

    2014-06-01

    413 (119 men, 294 women) undergraduate university students in Qatar completed an Arabic version of the Learning and Study Strategies Inventory (LASSI) measuring Anxiety, Attitude, Concentration, Information Processing, Motivation, Self-testing, Selecting Main Ideas, Study Aids, Time Management, and Test Strategies. The students' learning and study strategies scores were similar to those reported in the literature. Factor analysis indicated the same general factors as in the original study. Internal consistency estimates ranged from .62 to .88. Nine of the 10 scales (i.e., all with the exception of the Study Aids) significantly correlated with students' GPAs. Scores obtained from these scales provide valid assessments of Qatar University students' use of learning and study strategies related to skill, will, and self-regulation components of strategic learning and also academic achievement. There also were statistically significant differences between higher and lower achieving students in their learning and study strategies. This study also explored the use of the LASSI as a predictive measure of academic achievement. Anxiety and test strategies were significant predictors of academic achievement as measured by students' GPA. PMID:25074313

  2. Teaching across Cultures: Canada and Qatar

    ERIC Educational Resources Information Center

    Prowse, Jacqueline; Goddard, J. Tim

    2010-01-01

    Findings from a comparative case study conducted in Canada and Qatar are presented in this article. The study examined the cultural context of a transnational post-secondary program offered by the Faculty of Business at a Canadian college, with campuses located in both St. John's and Doha. The instructors' perceptions of their students' cultures…

  3. Consanguinity and hereditary hearing loss in Qatar.

    PubMed

    Girotto, Giorgia; Mezzavilla, Massimo; Abdulhadi, Khalid; Vuckovic, Dragana; Vozzi, Diego; Khalifa Alkowari, Moza; Gasparini, Paolo; Badii, Ramin

    2014-01-01

    Qatar is a sovereign state located on the Eastern coast of the Arabian Peninsula in the Persian Gulf. Its native population consists of 3 major subgroups: people of Arabian origin or Bedouins, those from an Eastern or Persian ancestry and individuals with African admixture. Historically, all types of consanguineous marriages have been and still are common in the Qatari population, particularly among first and double-first cousins. Thus, there is a higher risk for most inherited diseases including hereditary hearing loss (HHL). In particular, a hearing loss prevalence of 5.2% has been reported in Qatar, with parental consanguinity being more common among affected individuals as compared with unaffected ones. Our recent molecular results confirm a high homogeneity and level of inbreeding in Qatari HHL patients. Among all HHL genes, GJB2, the major player worldwide, accounts for a minor proportion of cases and at least 3 additional genes have been found to be mutated in Qatari patients. Interestingly, one gene, BDP1, has been described to cause HHL only in this country. These results point towards an unexpected level of genetic heterogeneity despite the high level of inbreeding. This review provides an up-to-date picture of HHL in Qatar and of the impact of consanguinity on this disease. PMID:25060281

  4. Misoprostol use in medical evacuation of spontaneous miscarriage: Pilot drug use evaluation study at the Women's Hospital in Qatar

    PubMed Central

    ElSalem, Samah A.; AlSaad, Doua T.; Abdulrouf, Palli V.; Ahmed, Afif A.; AlHail, Moza S.

    2016-01-01

    Background: Misoprostol is a synthetic prostaglandin E1 that induces cervical effacement and uterine contractions at all gestational ages, thus facilitating uterine evacuation and pregnancy termination. Successful medical evacuation of spontaneous miscarriage with minimal adverse effects can be performed using misoprostol-only regimen if given as indicated and if the administered dose, frequency of the dosage, and number of total doses are appropriate. Aim: To conduct a drug use evaluation by investigating indications, appropriateness of dosing, and clinical outcome of misoprostol-only regimen when used for medical evacuation of spontaneous miscarriage at the Women's Hospital in Doha, Qatar. Materials and methods: A retrospective descriptive drug use evaluation was conducted on women with spontaneous miscarriage who received misoprostol for medical evacuation during August 2013. The current practice at the Women's Hospital was compared with the recommendation from the World Health Organization (WHO). Patients were stratified into three groups based on weeks of amenorrhea. Results: A total of 107 patients received misoprostol during August 2013, of which 33 (31%) were included in the study. In these patients, the main indication for misoprostol use was missed miscarriage (54.5%). In the group of patients at ≤ 9 weeks of gestation, 80% received an initial dose of 800 μg, 80% received frequency within the WHO recommendation, and the majority had surgical evacuation (80%). In the group of patients at 10–12 weeks of gestation, more than 80% received an initial dose of 800 μg, 6% received frequency within the WHO recommendation, and more than 75% had successful medical evacuation. In the group of patients at 13–22 weeks of gestation, more than 80% received an initial dose of 400 μg, more than 80% received frequency within the WHO recommendation, and 54% had successful medical evacuation. Overall, more than 70% of the patients received ≤ 3 total doses of

  5. Female Students' Experience in E-Learning: A Study from Qatar

    ERIC Educational Resources Information Center

    Robinson, Martha; Ally, Mohamed

    2010-01-01

    This article describes a study that examines female Arab students' experiences in a pilot eSchoolbag project. The project used a blended approach which combined face-to-face instruction with e-learning resources and strategies. The study found that educational values, English-language ability, and experience with computers emerged as structural…

  6. A preliminary report on the distribution of lizards in Qatar

    PubMed Central

    Cogălniceanu, Dan; Castilla, Aurora M; Valdeón, Aitor; Gosá, Alberto; Al-Jaidah, Noora; Alkuwary, Ali; Saifelnasr, Essam O. H.; Mas-Peinado, Paloma; Richer, Renee; Al-Hemaidi, Ahmad Amer Mohd

    2014-01-01

    Abstract We have updated the list of the lizard species present in Qatar and produced the first distribution maps based on two field surveys in 2012 and 2013. We used the QND95/Qatar National Grid with a grid of 10 × 10 km squares for mapping. Our results show the occurrence of 21 lizard species in Qatar, from the 15 species indicated in the last biodiversity report conducted in 2004. The most abundant family found in Qatar is Gekkonidae with nine species (Bunopus tuberculatus, Cyrtopodion scabrum, Hemidactylus robustus, H. flaviviridis, H. persicus, Stenodactylus arabicus, S. slevini, S. doriae, Pseudoceramodactylus khobarensis), followed by Lacertidae with four species (Acanthodactylus schmidti, A. opheodurus, Mesalina brevirostris, M. adramitana), Agamidae with three species (Trapelus flavimaculatus, Uromastyx aegyptia, Phrynocephalus arabicus), Scincidae with two species (Scincus mitranus, Trachylepis septemtaeniata), and Varanidae (Varanus griseus), Sphaerodactylidae (Pristurus rupestris) and Trogonophiidae (Diplometopon zarudnyi) with one species each. The species richness fluctuated largely across Qatar between one and eleven species per grid square. We believe that the lizard fauna records in Qatar are still incomplete and that additional studies are required. However, our study here fills a gap concerning lizard biodiversity knowledge in the Gulf Region. PMID:24493961

  7. A preliminary report on the distribution of lizards in Qatar.

    PubMed

    Cogălniceanu, Dan; Castilla, Aurora M; Valdeón, Aitor; Gosá, Alberto; Al-Jaidah, Noora; Alkuwary, Ali; Saifelnasr, Essam O H; Mas-Peinado, Paloma; Richer, Renee; Al-Hemaidi, Ahmad Amer Mohd

    2014-01-01

    We have updated the list of the lizard species present in Qatar and produced the first distribution maps based on two field surveys in 2012 and 2013. We used the QND95/Qatar National Grid with a grid of 10 × 10 km squares for mapping. Our results show the occurrence of 21 lizard species in Qatar, from the 15 species indicated in the last biodiversity report conducted in 2004. The most abundant family found in Qatar is Gekkonidae with nine species (Bunopus tuberculatus, Cyrtopodion scabrum, Hemidactylus robustus, H. flaviviridis, H. persicus, Stenodactylus arabicus, S. slevini, S. doriae, Pseudoceramodactylus khobarensis), followed by Lacertidae with four species (Acanthodactylus schmidti, A. opheodurus, Mesalina brevirostris, M. adramitana), Agamidae with three species (Trapelus flavimaculatus, Uromastyx aegyptia, Phrynocephalus arabicus), Scincidae with two species (Scincus mitranus, Trachylepis septemtaeniata), and Varanidae (Varanus griseus), Sphaerodactylidae (Pristurus rupestris) and Trogonophiidae (Diplometopon zarudnyi) with one species each. The species richness fluctuated largely across Qatar between one and eleven species per grid square. We believe that the lizard fauna records in Qatar are still incomplete and that additional studies are required. However, our study here fills a gap concerning lizard biodiversity knowledge in the Gulf Region. PMID:24493961

  8. Levels of radioactivity in Qatar

    SciTech Connect

    Al-Thani, A.A.; Abdul-Majid, S.; Mohammed, K.

    1995-12-31

    The levels of natural and man-made radioactivity in soil and seabed were measured in Qatar to assess radiation exposure levels and to evaluate any radioactive contamination that may have reached the country from fallout or due to the Chernobyl accident radioactivity release. Qatar peninsula is located on the Arabian Gulf, 4500 km from Chernobyl, and has an area of {approximately}11,600 km{sup 2} and a population of {approximately}600,000.

  9. Epidemiological review of scorpion stings in Qatar

    PubMed Central

    Alkahlout, Baha H.; Abid, Muhammad M.; Kasim, Mohammad M.; Haneef, Shumaila M.

    2015-01-01

    Objectives: To review the epidemiology of scorpion sting in Qatar, to explore both the clinical significance, and the role of the emergency department (ED) in the management of such cases. Methods: In this retrospective study, we reviewed the records of all scorpion sting cases presented to the ED of Hamad General Hospital, Doha, Qatar between October 2010 and May 2013. Results: A total of 111 cases of scorpion stings were reviewed, 81 (72.9%) were males and 30 (27.1%) were females, with a mean age of 38 years. Localized pain was the most frequent presenting complaint (89 [80.2%]), whereas localized redness (44 [39.6%]) and swelling (38 [34.2%]) were the most common clinical signs. Abroug’s classification was used, and all cases were found to be class I. All patients received symptomatic treatment and were sent home. Conclusion: Scorpion sting problem in Qatar has a low clinical significance. Data from such studies should be utilized to create more specific (local) management guidelines, which should be more efficient with more rational utilization of ED resources. PMID:26108591

  10. The Reform of Qatar University. Monograph

    ERIC Educational Resources Information Center

    Moini, Joy S.; Bikson, Tora K.; Neu, C. Richard; DeSisto, Laura

    2009-01-01

    In 2003, the State of Qatar engaged the RAND-Qatar Policy Institute to assist Qatar University, the nation's first and only public higher education institution, with reform of its major administrative and academic structures, policies, and practices. This monograph summarizes that reform effort, which formally lasted from October 2003 through…

  11. Mood disturbance and depression in Arab women following hospitalisation from acute cardiac conditions: a cross-sectional study from Qatar

    PubMed Central

    Donnelly, Tam Truong; Al Suwaidi, Jassim Mohd; Al-Qahtani, Awad; Asaad, Nidal; Fung, Tak; Singh, Rajvir; Qader, Najlaa Abdul

    2016-01-01

    Objectives Depression is associated with increased morbidity and mortality rates among cardiovascular patients. Depressed patients have three times higher risk of death than those who are not. We sought to determine the presence of depressive symptoms, and whether gender and age are associated with depression among Arab patients hospitalised with cardiac conditions in a Middle Eastern country. Setting Using a non-probability convenient sampling technique, a cross-sectional survey was conducted with 1000 Arab patients ≥20 years who were admitted to cardiology units between 2013 and 2014 at the Heart Hospital in Qatar. Patients were interviewed 3 days after admission following the cardiac event. Surveys included demographic and clinical characteristics, and the Arabic version of the Beck Depression Inventory Second Edition (BDI-II). Depression was assessed by BDI-II clinical classification scale. Results 15% of the patients had mild mood disturbance and 5% had symptoms of clinical depression. Twice as many females than males suffered from mild mood disturbance and clinical depression symptoms, the majority of females were in the age group 50 years and above, whereas males were in the age group 40–49 years. χ2 Tests and multivariate logistic regression analyses indicated that gender and age were statistically significantly related to depression (p<0.001 for all). Conclusions Older Arab women are more likely to develop mood disturbance and depression after being hospitalised with acute cardiac condition. Gender and age differences approach, and routine screening for depression should be conducted with all cardiovascular patients, especially for females in the older age groups. Mental health counselling should be available for all cardiovascular patients who exhibit depressive symptoms. PMID:27388362

  12. Clinical experience with insulin detemir, biphasic insulin aspart and insulin aspart in people with type 2 diabetes: Results from the Qatar cohort of the A1chieve study

    PubMed Central

    Daghash, Mohamed Hasan; Raja, Jabbar Mubarak; Milad, Mohamed

    2013-01-01

    Background: The A1chieve, a multicentric (28 countries), 24-week, non-interventional study evaluated the safety and effectiveness of insulin detemir, biphasic insulin aspart and insulin aspart in people with T2DM (n = 66,726) in routine clinical care across four continents. Materials and Methods: Data was collected at baseline, at 12 weeks and at 24 weeks. This short communication presents the results for patients enrolled from Qatar. Results: A total of 91 patients were enrolled in the study. Two insulin analogue regimens were used in the study. Study patients had started on or were switched to biphasic insulin aspart (n = 88), insulin detemir (n = 2), and other insulin combinations (n = 1). At baseline glycaemic control was poor for both insulin naïve (mean HbA1c: 10.9%) and insulin users (mean HbA1c: 9.1%) groups. After 24 weeks of treatment, all the study groups showed improvement in HbA1c (insulin naïve: −1.8%, insulin users: −1.3%). Major hypoglycaemia did not occur in the study patients. SADRs were reported in 1.4% of insulin users. Conclusion: Starting or switching to insulin analogues was associated with improvement in glycaemic control with a low rate of hypoglycaemia. PMID:24404484

  13. A Case Study On the Relative Influence of Free Tropospheric Subsidence, Long Range Transport and Local Production in Modulating Ozone Concentrations over Qatar

    NASA Astrophysics Data System (ADS)

    Ayoub, Mohammed; Ackermann, Luis; Fountoukis, Christos; Gladich, Ivan

    2016-04-01

    The Qatar Environment and Energy Research Institute (QEERI) operates a network of air quality monitoring stations (AQMS) around the Doha metropolitan area and an ozonesonde station with regular weekly launches and occasional higher frequency launch experiments (HFLE). Six ozonesondes were launched at 0700 LT/0400 UTC and 1300 LT/1000 UTC over a three day period between 10-12 September, 2013. We present the analysis of the ozonesonde data coupled with regional chemical transport modeling over the same time period using WRF-Chem validated against both the ozonesonde and surface AQMS measurements. The HFLE and modeling show evidence of both subsidence and transboundary transport of ozone during the study period, coupled with a strong sea breeze circulation on the 11th of September resulting in elevated ozone concentrations throughout the boundary layer. The development of the sea breeze during the course of the day and influence of the early morning residual layer versus daytime production is quantified. The almost complete titration of ozone in the morning hours of 11 September, 2013 is attributed to local vehicular emissions of NOx and stable atmospheric conditions prevailing over the Doha area. The relative contribution of long range transport of ozone along the Arabian Gulf coast and local urban emissions are discussed.

  14. Impact of noncommunicable diseases in the State of Qatar

    PubMed Central

    Al-Kaabi, Salma Khalaf; Atherton, Andrew

    2015-01-01

    This study, commissioned by the Supreme Council of Health in the State of Qatar, focuses on the main noncommunicable diseases (NCDs) globally and regionally, in order to gauge their potential impact on Qatar. The research shows that the Gulf Cooperation Council is projected to be affected dramatically by NCDs in the coming years. The top five NCDs that will affect Qatar in terms of economic burden and disability-adjusted life years are cardiovascular diseases, mental health and behavioral disorders, cancer, respiratory diseases, and diabetes. Whilst these diseases have diverse effects on patients, their causes can be traced to “… common lifestyle-related, or behavioral, risk factors such as tobacco use, a diet heavy in fat, and physical inactivity”. The total direct and indirect costs to the Gulf Cooperation Council calculated for the above five NCDs were $36.2 billion in 2013, which equates to 150% of the officially recorded annual health care expenditure. If this trajectory is maintained, spending per head of population in Qatar will reach $2,778 by 2022. These figures demonstrate not only the potential financial impact of the main NCDs, but also give an idea of how the current health system is working to address them. PMID:26170702

  15. Qatar Peninsula, United Arab Emirates, Persian Gulf

    NASA Technical Reports Server (NTRS)

    1983-01-01

    In this view of the Qatar Peninsula, United Arab Emirates, Persian Gulf, (25.0N, 51.0E) a large oil spill, seen as a large dark toned mass in the water covers much of the surface of the western Persian Gulf. Qatar is one of several of the oil rich United Arab Emirate states. Oil spills and oil pollution of the environment are common occurrances associated with oil tanker loading operations.

  16. A market basket survey of As, Zn and Se in rice imports in Qatar: health implications.

    PubMed

    Rowell, Candace; Kuiper, Nora; Al-Saad, Khalid; Nriagu, Jerome; Shomar, Basem

    2014-08-01

    Qatar is dependent on importation of rice, its staple dish, and is therefore susceptible to compromises of food quality in the global market. This market basket study assesses potential health risks of As exposure from rice consumption in Qatar and examines its contribution to the recommended nutritional intakes (RNI) for Zn and Se. Fifty-six rice types and 12 products sold in Qatar were analyzed by ICP/MS. Mean concentrations and ranges were 96.2±54.1μg/kg (9.76-258μg/kg) for As; 12.5±5.35mg/kg (2.79-29.9mg/kg) for Zn and 103±113μg/kg (<5.94-422μg/kg) for Se. Calculated risk quotient shows rice consumption in Qatar is not a significant route of As exposure but can contribute up to 100% and 50% of the RNI for Se and Zn, respectively. Results indicate that children in Qatar may be at elevated risk of arsenic exposure from rice-based infant cereals but more data is needed to obtain a definitive assessment. PMID:24813761

  17. Do socioeconomic factors influence breast cancer screening practices among Arab women in Qatar?

    PubMed Central

    Donnelly, Tam Truong; Al Khater, Al-Hareth; Al Kuwari, Mohamed Ghaith; Al-Bader, Salha Bujassoum; Al-Meer, Nabila; Abdulmalik, Mariam; Singh, Rajvir; Chaudhry, Sofia; Fung, Tak

    2015-01-01

    Objectives Breast cancer incidence rates are rising in Qatar. Although the Qatari government provides subsidised healthcare and screening programmes that reduce cost barriers for residents, breast cancer screening (BCS) practices among women remain low. This study explores the influence of socioeconomic status on BCS among Arab women in Qatar. Setting A multicentre, cross-sectional quantitative survey was conducted with 1063 Arab women (87.5% response rate) in Qatar from March 2011 to July 2011. Women who were 35 years or older and had lived in Qatar for at least 10 years were recruited from seven primary healthcare centres and women's health clinics in urban and semiurban regions of Qatar. Associations between socioeconomic factors and BCS practice were estimated using χ2 tests and multivariate logistic regression analyses. Results Findings indicate that less than one-third of the participants practised BCS appropriately, whereas less than half of the participants were familiar with recent BCS guidelines. Married women and women with higher education and income levels were significantly more likely to be aware of and to practise BCS than women who had lower education and income levels. Conclusions Findings indicate low levels of awareness and low participation rates in BCS among Arab women in Qatar. Socioeconomic factors influence these women's participation in BCS activities. The strongest predictors for BCS practice are higher education and higher income levels. Recommendations Additional research is needed to explore the impact of economic factors on healthcare seeking behaviours in the Middle Eastern countries that have a high national gross domestic product where healthcare services are free or heavily subsidised by the government; promotion of BCS and intervention strategies in these countries should focus on raising awareness about breast cancer, the cost and benefit of early screening for this disease, particularly among low-income women. PMID

  18. Identification of wind fields for wave modeling near Qatar

    NASA Astrophysics Data System (ADS)

    Nayak, Sashikant; Balan Sobhana, Sandeepan; Panchang, Vijay

    2016-04-01

    Due to the development of coastal and offshore infrastructure in and around the Arabian Gulf, a large semi-enclosed sea, knowledge of met-ocean factors like prevailing wind systems, wind generated waves, and currents etc. are of great importance. Primarily it is important to identify the wind fields that are used as forcing functions for wave and circulation models for hindcasting and forecasting purposes. The present study investigates the effects of using two sources of wind-fields on the modeling of wind-waves in the Arabian Gulf, in particular near the coastal regions of Qatar. Two wind sources are considered here, those obtained from ECMWF and those generated by us using the WRF model. The wave model SWAN was first forced with the 6 hourly ERA Interim daily winds (from ECMWF) having spatial resolution of 0.125°. For the second option, wind fields were generated by us using the mesoscale wind model (WRF) with a high spatial resolution (0.1°) at every 30 minute intervals. The simulations were carried out for a period of two months (7th October-7th December, 2015) during which measurements were available from two moored buoys (deployed and operated by the Qatar Meteorological Department), one in the north of Qatar ("Qatar North", in water depth of 58.7 m) and other in the south ("Shiraouh Island", in water depth of 16.64 m). This period included a high-sea event on 11-12th of October, recorded by the two buoys where the significant wave heights (Hs) reached as high as 2.9 m (i.e. max wave height H ~ 5.22 m) and 1.9 (max wave height H ~ 3.4 m) respectively. Model results were compared with the data for this period. The scatter index (SI) of the Hs simulated using the WRF wind fields and the observed Hs was found to be about 30% and 32% for the two buoys (total period). The observed Hs were generally reproduced but there was consistent underestimation. (Maximum 27% for the high-sea event). For the Hs obtained with ERA interim wind fields, the underestimation was

  19. Prevention of type II diabetes mellitus in Qatar: Who is at risk?

    PubMed Central

    Christos, Paul J; Chemaitelly, Hiam; Abu-Raddad, Laith J; Ali Zirie, Mahmoud; Deleu, Dirk; Mushlin, Alvin I

    2014-01-01

    Background: Type II diabetes mellitus (DM) is one of the leading chronic diseases in Qatar as well as worldwide. However, the risk factors for DM in Qatar and their prevalence are not well understood. We conducted a case-control study with the specific aim of estimating, based on data from outpatients with DM in Qatar (cases) and outpatient/inpatient controls, the association between demographic/lifestyle factors and DM. Methods: A total of 459 patients with DM from Hamad General Hospital (HGH) outpatient adult diabetes clinics, and 342 control patients from various outpatient clinics and inpatient departments within Hamad Medical Corporation (HMC) (years 2006–2008), were recruited. The association between risk factors and DM was evaluated using bivariate and multivariable logistic regression analyses. In addition to odds ratios (OR) and 95% confidence intervals (95% CI), we estimated the population attributable risk fractions for the DM demographic/lifestyle risk factors. Results: Qatari nationality was the strongest risk factor for DM (adjusted OR = 5.5; 95% CI = 3.5–8.6; p < 0.0001), followed by higher monthly income (defined as ≥ 3000 Qatari Riyals, adjusted OR = 5.1; 95% CI = 3.0–8.7; p < 0.0001), age >65 years (adjusted OR = 3.3; 95% CI = 0.9–11.4; p = 0.06), male gender (adjusted OR = 2.9; 95% CI = 1.8-4.8; p < 0.0001), obesity (BMI ≥ 30, adjusted OR = 2.2; 95% CI = 1.5-3.2; p < 0.0001), no college education (adjusted OR = 1.7; 95% CI = 1.2–2.6; p = 0.009), and no daily vigorous/moderate activity (adjusted OR = 1.5; 95% CI = 0.9–2.3; p = 0.12). Among Qatari nationals, obesity was found to be the main risk factor for DM (unadjusted OR = 3.0; 95% CI = 1.6–5.6; p < 0.0001), followed by no college education (unadjusted OR = 2.7; 95% CI = 1.5–5.1; p = 0.001), while consanguinity did not appear to play a major role in predicting DM (unadjusted OR = 1.5; 95% CI = 0.8–2.8; p = 0

  20. Alignment of Teacher-Developed Curricula and National Standards in Qatar's National Education Reform

    ERIC Educational Resources Information Center

    Nasser, Ramzi; Zaki, Eman; Allen, Nancy; Al Mula, Badria; Al Mutawaha, Fatma; Al Bin Ali, Hessa; Kerr, Tricia

    2014-01-01

    This study investigated the degree to which teacher developed curriculum was aligned with the national standards in Qatar. Three sources of data included teacher response to a questionnaire, teacher interviews and expert rating of the alignment of teacher-developed materials with curriculum standards. A survey and interview questions measured…

  1. Adequacy, Accountability, Autonomy and Equity in a Middle Eastern School Reform: The Case of Qatar

    ERIC Educational Resources Information Center

    Guarino, Cassandra M.; Tanner, Jeffery C.

    2012-01-01

    This study examines Qatar's recent and ambitious school reform in the early stages of its implementation against a set of four criteria for successful education systems drawn from guidelines developed by the international community: adequacy, accountability, autonomy and gender equity. We investigate both the initial structure of the reform and…

  2. Exploring the Relationship between Organizational Learning and Career Resilience among Faculty Members at Qatar University

    ERIC Educational Resources Information Center

    Abu-Tineh, Abdullah M.

    2011-01-01

    Purpose: Two main purposes guide this study. The first is to assess the level of individual, group, and organizational learning at Qatar University (QU), and the level of career resilience among its faculty members. The second is to explore the relationships between these levels of learning at QU and the career resilience of its faculty members.…

  3. Mothers' Perceptions of the Treatment of Their Children with Disabilities in Qatar

    ERIC Educational Resources Information Center

    Kay, Alyn K.

    2011-01-01

    This article constitutes one part of a study of the perceptions of mothers of children with disabilities in Qatar with the purpose of obtaining mothers' unique perceptions of treatment of their children within their community. Participants included 40 mothers of one or more children with disabilities from ages 4 to 19 who attended the same…

  4. Qatar's K-12 Education Reform Has Achieved Success in Its Early Years. Research Brief

    ERIC Educational Resources Information Center

    Larson, Judy

    2009-01-01

    To evaluate progress made in the first years of Qatar's implementation of K-12 education reform, RAND analyzed data from school-level observations, national surveys, and national student assessments. The study found that students in the new, Independent schools were performing better than those in Ministry schools, and there was greater student…

  5. New Cultures of Critical Reflection in Qatar

    ERIC Educational Resources Information Center

    McNiff, Jean

    2011-01-01

    We speak about the need for critical reflection on practice, but what do we do when we do it; and how do we explain how and why we should do it? This paper explores these issues, and itself acts as the site for an exploration and explanation of what it means to be critically reflective. Drawing on recent research in Qatar, I give an account of how…

  6. Kuwait Oil Fires, Persian Gulf, Qatar Peninsula

    NASA Technical Reports Server (NTRS)

    1991-01-01

    This view up the Persian Gulf from the Qatar Peninsula into southern Iraq (25.5N, 51.0E) shows an excursion of the smoke plumes from the Kuwait oil fires set during the short Persian Gulf War. Smoke from the fires north of Kuwait City, extends across the Persian Gulf while a larger smoke plume from the southern fires heads into southern Saudi Arabia before beginning to spread out and become more diffuse.

  7. Perception of aging and ageism among women in Qatar.

    PubMed

    Musaiger, Abdulrahman O; D'Souza, Reshma; Al-Roomi, Khaldoon

    2013-01-01

    The objective of this study was to find out the perceptions of age and aging among women in Qatar. Respondents consisted of 250 women aged between 20 and 70 years, selected from those attending the health centers in Doha city, the capital of Qatar. They were interviewed using a pretested validated questionnaire, and data were collected through direct face-to-face interviews using the incidental sampling method. It was found that physical appearance and mental alertness were the most important criteria for defining aging in men and women. A statistically significant association was found between age of respondents and physical criteria for aging such as hair color (p < .000) in women and body image in men (p < .0298). As for aging characteristics, decreasing hearing ability (p < .000), performance as before (p < .004), more irritability (p < .0227), ability to travel alone (p < .0429), needs check up (p < .001), and needs a geriatric home (p < .001) were statistically associated with age of women studied. Both positive (socializing factors, independence, housework, retirement, and geriatric care) and negative stereotyping (care for self, learning capabilities, irritability, and worries) with regard to aging were evident among the Qatari women. In general, Qatari women had several positive attitudes toward aging. Such attitudes could be utilized in any health promotion for elderly people. PMID:23767841

  8. Cystic fibrosis in a large kindred family in Qatar.

    PubMed

    Abdul Wahab, A; Dawod, S T; al Thani, G

    2000-09-01

    We describe 45 patients with cystic fibrosis (CF), diagnosed between June 1987 and May 1999, seen at the Hamad Medical Corporation, Qatar in the Arabian Gulf. Twenty-six of 32 families in the study were related and belonged to the same Bedouin tribe. The parents of 98% of these cases were consanguineous. Metabolic alkalosis and/or hypo-electrolytaemia were found in a large proportion of infants with CF. Cystic fibrosis in Qatari children is phenotypically variable with mild to moderate respiratory symptoms, and none of them died during this study. Among the non-Arabic-Asian patients, pulmonary symptoms were more severe, Pseudomonas colonization was earlier, pancreatic insufficiency occurred in infancy and four died in early life. PMID:11064773

  9. Controlling residential water demand in Qatar: an assessment.

    PubMed

    Al-Mohannadi, Hassan I; Hunt, Chris O; Wood, Adrian P

    2003-08-01

    Qatar has serious water resource problems, following rapid socioeconomic development and massive population increase. Municipal water provision depends on costly and unsustainable desalination. There is little regulation. Native Qataris do not pay a water tariff and migrants pay a subsidized price--approximately one third of the cost of production--so there is little awareness of the true cost of water and use is profligate. This paper discusses trends in water use and identifies issues underlying sustainable water use in Qatar. A questionnaire of respondents chosen to represent Qatari social groups measured awareness and attitudes to water. The results show that previous efforts to control water demand in Qatar, using awareness campaigns, legal restrictions and tariffs, have been ineffectual. The questionnaire evaluated reactions to possible measures to limit uses by raising awareness, using legal restrictions and raising tariffs. From this, a number of policy changes can be suggested, to bring Qatar's water industry towards sustainability. PMID:14571967

  10. Genetic studies in alcohol research

    SciTech Connect

    Karp, R.W.

    1994-12-15

    The National Institute on Alcohol Abuse and Alcoholism (NIAAA) supports research to elucidate the specific genetic factors, now largely unknown, which underlie susceptibility to alcoholism and its medical complications (including fetal alcohol syndrome). Because of the genetic complexity and heterogeneity of alcoholism, identification of the multiple underlying factors will require the development of new study designs and methods of analysis of data from human families. While techniques of genetic analysis of animal behavioral traits (e.g., targeted gene disruption, quantitative trait locus (QTL) mapping) are more powerful that those applicable to humans (e.g., linkage and allelic association studies), the validation of animal behaviors as models of aspects of human alcoholism has been problematic. Newly developed methods for mapping QTL influencing animal behavioral traits can not only permit analyses of human family data to be directly informed by the results of animal studies, but can also serve as a novel means of validating animal models of aspects of alcoholism. 55 refs.

  11. Remote sensing of Qatar nearshore habitats with perspectives for coastal management.

    PubMed

    Warren, Christopher; Dupont, Jennifer; Abdel-Moati, Mohamed; Hobeichi, Sanaa; Palandro, David; Purkis, Sam

    2016-04-30

    A framework is proposed for utilizing remote sensing and ground-truthing field data to map benthic habitats in the State of Qatar, with potential application across the Arabian Gulf. Ideally the methodology can be applied to optimize the efficiency and effectiveness of mapping the nearshore environment to identify sensitive habitats, monitor for change, and assist in management decisions. The framework is applied to a case study for northeastern Qatar with a key focus on identifying high sensitivity coral habitat. The study helps confirm the presence of known coral and provides detail on a region in the area of interest where corals have not been previously mapped. Challenges for the remote sensing methodology associated with natural heterogeneity of the physical and biological environment are addressed. Recommendations on the application of this approach to coastal environmental risk assessment and management planning are discussed as well as future opportunities for improvement of the framework. PMID:26632526

  12. Radioactivity levels in the marine environment along the Exclusive Economic Zone (EEZ) of Qatar.

    PubMed

    Al-Qaradawi, Ilham; Abdel-Moati, Mohamed; Al-Yafei, Mohsin Al-Ansi; Al-Ansari, Ebrahim; Al-Maslamani, Ibrahim; Holm, Elis; Al-Shaikh, Ismail; Mauring, Alexander; Pinto, Primal V; Abdulmalik, Dana; Amir, Amina; Miller, Mark; Yigiterhan, Oguz; Persson, Bertil

    2015-01-15

    A study on (137)Cs, (40)K, (226)Ra, (228)Ra, and (238)U was carried out along the EEZ of Qatar. Results serve as the first ever baseline data. The level of (137)Cs (mean value 1.6 ± 0.4 Bq m(-3)) in water filters was found to be in the same order of magnitude as reported by others in worldwide marine radioactivity studies. Results are also in agreement with values reported from other Gulf regions. The computed values of sediment-water distribution coefficients Kd, are lower than the values given by IAEA. Measurements were carried out for bottom sediments, biota samples like fish, oyster, sponge, seashell, mangrove, crab, shrimp, starfish, dugong and algae. The 'concentration factors' reported for biota samples are below the levels published by IAEA and cause no significant impact on human health for seafood consumers in Qatar. PMID:25480154

  13. Adequacy, accountability, autonomy and equity in a Middle Eastern school reform: The case of Qatar

    NASA Astrophysics Data System (ADS)

    Guarino, Cassandra M.; Tanner, Jeffery C.

    2012-04-01

    This study examines Qatar's recent and ambitious school reform in the early stages of its implementation against a set of four criteria for successful education systems drawn from guidelines developed by the international community: adequacy, accountability, autonomy and gender equity. We investigate both the initial structure of the reform and its sustainability in light of concerns that movements in these directions might be politically unfeasible. To some degree, these concerns are substantiated by the developments we trace. However, it is important to note that the reform has changed the landscape of primary and secondary education in Qatar and that many reform principles, though diluted, have been retained. This paper highlights lessons learned - both hopeful and cautionary - in the first few years of reform and presents a methodology for evaluating progress along key dimensions that can be applied to school systems in many nations.

  14. Emergence of multidrug-resistant Acinetobacter baumannii producing OXA-23 Carbapenemase in Qatar.

    PubMed

    Rolain, J-M; Loucif, L; Al-Maslamani, M; Elmagboul, E; Al-Ansari, N; Taj-Aldeen, S; Shaukat, A; Ahmedullah, H; Hamed, M

    2016-05-01

    The objective of our study was to describe the molecular support of carbapenem resistance from randomly selected clinical isolates of multidrug-resistant (MDR) Acinetobacter baumannii as a pilot study from the Hamad Medical Corporation (HMC), Qatar. Results of our report will be used to study carbapenemases using molecular techniques in all isolated MDR A. baumannii. Forty-eight MDR A. baumannii were randomly selected from isolates preserved at HMC. Identification of all isolates was confirmed by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Antibiotic resistance was tested phenotypically by Phoenix and confirmed by Etest. The molecular support of carbapenemases (bla OXA-23, bla OXA-24, bla OXA-58, bla NDM) was investigated by real-time PCR. The epidemiologic relatedness of the isolates was verified by phylogenetic analysis based on partial sequences of CsuE and bla OXA-51 genes. All 48 isolates were identified as A. baumannii and were confirmed to be resistant to most antibiotics, especially meropenem, imipenems, ciprofloxacin, levofloxacin, amikacin, gentamicin and most of the β-lactams; they were sensitive to colistin. All the isolates were positive for bla OXA-23 and negative for the other tested carbapenemase genes. Clonality analysis demonstrated that different lineages were actually circulating in Qatar; and we suggest that an outbreak occurred in the medical intensive care unit of HMC between 2011 and 2012. Here we report the emergence of MDR A. baumannii producing the carbapenemase OXA-23 in Qatar. PMID:27054039

  15. [Genetic study of allergic diseases].

    PubMed

    Zhang, Yuan; Zhang, Luo

    2012-09-01

    Allergic diseases mentioned in this review is regarding to I type allergic inflammation induced by an IgE-mediated reaction, including asthma, allergic rhinitis, atopic dermatitis and food allergy. It is convinced that allergic diseases belong to multiple genes diseases and are controlled by both genetic and environmental factors. Meanwhile there exists gene-gene as well as gene-environment interactions during the development of the disease. The aim of this review is to summarize the toolkit, advance, inherent difficulties and future clinical application prospect in genetic studies of allergic disease. PMID:23214325

  16. Prevalence of Online Reading among High School Students in Qatar: Evidence from the Programme for International Student Assessment 2009

    ERIC Educational Resources Information Center

    Cheema, Jehanzeb R.

    2014-01-01

    Recent research has suggested presence of a significant relationship between prevalence of online reading and reading literacy. In this study we examined the prevalence of online reading among 15-year old students in Qatar using a nationally representative sample of 8,089 students. Bivariate and multivariate analyses were conducted at the item and…

  17. The private-public literacy divide amid educational reform in Qatar: What does PISA tell us?

    NASA Astrophysics Data System (ADS)

    Cheema, Jehanzeb R.

    2015-04-01

    The education system in Qatar comprises of both private schools, which receive money through student fees, and public schools, which are fully government-funded. In the mid-2000s, Qatar started its transition towards an independent school model with the aim of eventually converting all public schools into government-supported independent schools. The idea was to give public schools more autonomy in terms of hiring decisions, adoption of curriculum and textbooks, and budget spending, enabling them to emulate some of the private schools' strategies for turning out successful students. This study examines evidence from the 2006-2012 administrations of the Program for International Student Assessment (PISA) in Qatar in order to evaluate whether or not recent educational reform efforts in this country have succeeded in bridging the literacy divide between private and public schools. The results, presented in a number of detailed tables and discussed in the last part of the article, indicate that there is a significant difference in key literacy skills between the two types of schools. Private schools were found to outperform their public counterparts in areas such as mathematics, reading and science, both before and after controlling for important student-level differences, and this gap has evidently persisted from 2006 to 2012.

  18. Qatar's School Transportation System: Supporting Safety, Efficiency, and Service Quality. Monograph

    ERIC Educational Resources Information Center

    Henry, Keith; Younossi, Obaid; Al-Dafa, Maryah; Culbertson, Shelly; Mattock, Michael G.; Light, Thomas; Rohr, Charlene

    2012-01-01

    In consideration of the many challenges associated with Qatar's continued growth and demographic changes, the government of Qatar is interested in updating its school transportation system (STS). This volume assesses the perspectives of parents and school administrators on Qatar's STS, identifies a vision and goals for the STS, reviews…

  19. An assessment of Qatar's coral communities in a regional context.

    PubMed

    Burt, John A; Smith, Edward G; Warren, Christopher; Dupont, Jennifer

    2016-04-30

    Qatar's once extensive coral communities have undergone considerable change in recent decades. We quantitatively surveyed three coral assemblages in Qatar to assess current status, and compared these against 14 sites in Bahrain and the United Arab Emirates to evaluate Qatar in a larger biogeographic context. Umm Al-Arshan had the highest species richness of 17 sites examined in the southern Arabian Gulf, as well as the highest coral cover and the only Acropora observed on sites in Qatar. Coral cover and richness were more modest at Fuwayrit and Al-Ashat, reflecting greater impacts from earlier stress events. Two distinct communities were identified across the southern Gulf, with Umm Al-Arshan clustering with high-cover, mixed merulinid/poritid assemblages that were less impacted by earlier bleaching and long-term stress, while Fuwayrit and Al-Ashat grouped with a lower-cover, stress-tolerant community characteristic of more extreme environments in the southern Gulf. We recommend implementation of a nation-wide baseline assessment of coral communities to guide development of an MPA network and long-term coral monitoring program for Qatar. PMID:26410180

  20. Oil slicks off the coast of Qatar, Persian Gulf

    NASA Technical Reports Server (NTRS)

    1983-01-01

    A detailed view the port facility of Musay'id on the Qatar Peninsula, United Arab Emirates, Persian Gulf (25.0N, 52.5E). Part of a large oil spill seen as a dark toned mass in the water, covering much of the surface of the western Persian Gulf, has moved offshore in this scene. Qatar is one of several of the oil rich United Arab Emirate states. Oil spills and oil pollution of the environment commonly occur in oil tanker operations.

  1. Studies in genetic discrimination. Final progress report

    SciTech Connect

    Not Available

    1994-06-01

    We have screened 1006 respondents in a study of genetic discrimination. Analysis of these responses has produced evidence of the range of institutions engaged in genetic discrimination and demonstrates the impact of this discrimination on the respondents to the study. We have found that both ignorance and policy underlie genetic discrimination and that anti-discrimination laws are being violated.

  2. Assessment of the 10-year risk of coronary heart disease events for Qatar Petroleum's firefighters and non-firefighter staff in Qatar.

    PubMed

    Mochtar, I; Hooper, R W

    2012-02-01

    Coronary heart disease is a major public health problem worldwide and firefighters may be at particular occupational risk. In a cross-sectional study in Ras Laffan Industrial City, Qatar, we assessed the 10-year risk of coronary heart disease events for 369 Qatar Petroleum staff at their periodic medical examination. The subjects of the study (all males) were divided into firefighters and non-firefighters groups. Based on the Framingham risk score calculations, 69.9% of the subjects were categorized as low risk, 27.1% as intermediate risk and 2.9% as high risk. None of the firefighters was categorized as high risk, 15.5% were intermediate and the rest were low risk. In the whole group, low high-density lipoprotein cholesterol was the most prevalent risk factor (68.8%), followed by hypertension (32.0%) and smoking (15.4%). The mean risk of developing coronary heart disease in firefighters [6.5% (SD 3.7%)] was significantly lower than in non-firefighters 19.5% (SD 6.5%)]. PMID:22571088

  3. A Perspective on Student Learning Outcome Assessment at Qatar University

    ERIC Educational Resources Information Center

    Al-Thani, Shaikha Jabor; Abdelmoneim, Ali; Daoud, Khaled; Cherif, Adel; Moukarzel, Dalal

    2014-01-01

    This paper provides a unique perspective on the student learning outcome assessment process as adopted and implemented at Qatar University from 2006 to 2012. The progress of the student learning outcome assessment and continuous improvement efforts at the university and the initiatives taken to establish a culture of assessment and evidence-based…

  4. Prevalence of dental caries among 12–14 year old children in Qatar

    PubMed Central

    Al-Darwish, Mohammed; El Ansari, Walid; Bener, Abdulbari

    2014-01-01

    Background To ensure the oral health of a population, clinicians must deliver appropriate dental services, and local communities need to have access to dental care facilities. However, establishment of this infrastructure must be based on reliable information regarding disease prevalence and severity in the target population. Objectives The aims of this study were to measure the incidence of dental caries in school children aged 12–14 throughout Qatar, including the influence of socio-demographic factors. Materials and methods A cross-sectional study was conducted in Qatar from October 2011 to March 2012. A total of 2113 children aged 12–14 were randomly selected from 16 schools located in different geographic areas. Three calibrated examiners using World Health Organization (WHO) criteria to diagnose dental caries performed the clinical examinations. Data analyses were subsequently conducted. Results The mean decayed, missing, and filled teeth index values were respectively 4.62 (±3.2), 4.79 (±3.5), and 5.5 (±3.7), for 12, 13, and 14 year-old subjects. Caries prevalence was 85%. The mandibular incisors and canines were least affected by dental caries, while maxillary and mandibular molars exhibited the highest incidence of dental caries. Dental caries were affected by socio-demographic factors; significant differences were detected between female and male children, where more female children showed dental caries than male children. In addition, children residing in semi-urban areas showed more dental caries than in urban areas. Conclusion Results indicated that dental caries prevalence among school children in Qatar has reached critical levels, and is influenced by socio-demographic factors. The mean decayed, missing, and filled teeth values obtained in this study were the second highest detected in the Eastern Mediterranean region. PMID:25057232

  5. Emergence of multidrug-resistant Acinetobacter baumannii producing OXA-23 Carbapenemase in Qatar

    PubMed Central

    Rolain, J.-M.; Loucif, L.; Al-Maslamani, M.; Elmagboul, E.; Al-Ansari, N.; Taj-Aldeen, S.; Shaukat, A.; Ahmedullah, H.; Hamed, M.

    2016-01-01

    The objective of our study was to describe the molecular support of carbapenem resistance from randomly selected clinical isolates of multidrug-resistant (MDR) Acinetobacter baumannii as a pilot study from the Hamad Medical Corporation (HMC), Qatar. Results of our report will be used to study carbapenemases using molecular techniques in all isolated MDR A. baumannii. Forty-eight MDR A. baumannii were randomly selected from isolates preserved at HMC. Identification of all isolates was confirmed by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Antibiotic resistance was tested phenotypically by Phoenix and confirmed by Etest. The molecular support of carbapenemases (blaOXA-23, blaOXA-24, blaOXA-58, blaNDM) was investigated by real-time PCR. The epidemiologic relatedness of the isolates was verified by phylogenetic analysis based on partial sequences of CsuE and blaOXA-51 genes. All 48 isolates were identified as A. baumannii and were confirmed to be resistant to most antibiotics, especially meropenem, imipenems, ciprofloxacin, levofloxacin, amikacin, gentamicin and most of the β-lactams; they were sensitive to colistin. All the isolates were positive for blaOXA-23 and negative for the other tested carbapenemase genes. Clonality analysis demonstrated that different lineages were actually circulating in Qatar; and we suggest that an outbreak occurred in the medical intensive care unit of HMC between 2011 and 2012. Here we report the emergence of MDR A. baumannii producing the carbapenemase OXA-23 in Qatar. PMID:27054039

  6. Oral health knowledge, behaviour and practices among school children in Qatar

    PubMed Central

    Al-Darwish, Mohammed Sultan

    2016-01-01

    Background: The aim of this study was to assess the oral health knowledge behaviour and practices among school children in Qatar. Materials and Methods: A cross-sectional study was carried out in Qatar from October 2011 to April 2012. A total of 2200 school children aged 12–14 years were approached from 16 schools of different areas. The information about oral health knowledge and sources of information was obtained through a self-administrated questionnaire. Data analyses were performed. Results: The overall response rate was (96%). Only (25.8%) of children reported a high level of oral health knowledge. After each meal, tooth brushing was observed by a very low percentage of children (3.7%). About 44.6% of children recognized dental floss as a cleaning device for between the teeth. A large number of children (32.5%) thought incorrectly that one must visit the dentist only in case of pain. A great majority was not aware of cariogenic potential of soft drinks (39%) and sweetened milk (97.8%). Less than half (38.9%) of children actually had heard about fluoride. Only (16.8%) correctly answered the question about sign of tooth decay. Slightly, less than half (48.4%) could not define the meaning of plaque. Parents were the most popular (69.1%), source of oral health information for the children. Conclusion: The oral health knowledge in Qatar is below the satisfactory level. Parents were the most popular source of oral health knowledge for the children followed by dentists, school teachers, and media. PMID:27605993

  7. Twenty years of sedimentary change and diagenesis, Qatar Peninsula, Arabian Gulf

    SciTech Connect

    Shinn, E.A.

    1988-01-01

    Re-examination in February 1986 of areas studied by the author in 1966 and 1967 revealed rapid rates of sedimentation and diagenesis along the east coast of the Qatar Peninsula. At Ras UmSa on the northeast side of Qatar, a series of chenier-like beaches and curved spits is building southward under the influence of longshore currents. Beach and spit growth increasingly protects the shoreline and allows tidal flats to form in their lee. As these spits accrete, they become armored on their lagoonal side by beachrock formation. In the last 20 years a spit approximately 1/2 km long has grown, and beachrock has already armored its recurved lagoonal side. At Umm Said on the southeast side of Qatar, seawardly accreting barchan dunes composed of quartz sand have built a 40-km long, 10-km wide sabkha as thick as 30 m. Aerial and ground photographs show that certain dunes near the seaward edge of the sabkha have migrated into the sea and have contributed to shoreline accretion. The observed rate of dune migration suggests that within approximately 100 years the remaining quartz sands are depleted and blown into the sea because there is no replenishment of the dune field. Subsequently, the area reverts to one of carbonate deposition. Fine-grained dolomite is presently precipitating in interstitial brines in the landwardmost portions of this unusual sabkha. In the geologic record, such a deposit would be an anomalous, porous and permeable, cross-bedded, linear, 30-m thick, dolomite-cemented sandstones body encased in carbonate sediments. A modern model such as the one at Umm Said can provide useful clues for determining the origin of similar deposits in ancient rocks.

  8. Twenty years of sedimentary change and diagenesis, Qatar Peninsula, Arabian Gulf

    SciTech Connect

    Shinn, E.A.

    1988-02-01

    Re-examination in February 1986 of areas studied by the author in 1966 and 1967 revealed rapid rates of sedimentation and diagenesis along the east coast of the Qatar Peninsula. At Ras Um Sa on the north-east side of Qatar, a series of chenier-like beaches and curved spits is building southward under the influence of longshore currents. Beach and spit growth increasingly protects the shoreline and allows tidal flats to form in their lee. As these spits accrete, they become armored on their lagoonal side by beachrock formation. In the last 20 years a spit approximately 1/2 km long has grown, and beachrock has already armored its recurved lagoonal side. At Umm Said on the southeast side of Qatar, seawardly accreting barchan dunes composed of quartz sand have built a 40-km long, 10-km wide sabkha as thick as 30 m. Aerial and ground photographs show that certain dunes near the seaward edge of the sabkha have migrated into the sea and have contributed to shoreline accretion. The observed rate of dune migration suggests that within approximately 100 years the remaining quartz sands will be depleted and blown into the sea because there is no replenishment of the dune field. Subsequently, the area will revert to one of carbonate deposition. Fine-grained dolomite is presently precipitating in interstitial brines in the landwardmost portions of this unusual sabkha. In the geologic record, such a deposit would be an anomalous, porous and permeable, cross-bedded, linear, 30-m thick, dolomite-cemented sandstone body encased in carbonate sediments. A modern model such as the one at Umm Said can provide useful clues for determining the origin of similar deposits in ancient rocks.

  9. Quantitative genetic studies of antisocial behaviour.

    PubMed

    Viding, Essi; Larsson, Henrik; Jones, Alice P

    2008-08-12

    This paper will broadly review the currently available twin and adoption data on antisocial behaviour (AB). It is argued that quantitative genetic research can make a significant contribution to further the understanding of how AB develops. Genetically informative study designs are particularly useful for investigating several important questions such as whether: the heritability estimates vary as a function of assessment method or gender; the relative importance of genetic and environmental influences varies for different types of AB; the environmental risk factors are truly environmental; and genetic vulnerability influences susceptibility to environmental risk. While the current data are not yet directly translatable for prevention and treatment programmes, quantitative genetic research has concrete translational potential. Quantitative genetic research can supplement neuroscience research in informing about different subtypes of AB, such as AB coupled with callous-unemotional traits. Quantitative genetic research is also important in advancing the understanding of the mechanisms by which environmental risk operates. PMID:18434281

  10. Comparison of pharmacist knowledge, perceptions and training opportunities regarding maternal-fetal medicine in Canada, Qatar and Uganda

    PubMed Central

    Bains, Serena; Kitutu, Freddy E.; Rahhal, Ala’a; Abu Samaha, Rana; Wilby, Kyle J.

    2014-01-01

    Background: Although pharmacists have great potential to modify and optimize drug therapy in pregnancy and lactation, current literature demonstrates that they do not routinely provide this care and often feel ill equipped to do so. The objective of this study was to determine pharmacists’ knowledge and perceptions of maternal-fetal medicine in Canada, Uganda and Qatar. Secondary objectives were to determine factors associated with pharmacists’ knowledge and to characterize training opportunities and resources available to practising pharmacists. Methods: A cross-sectional survey using online software (SurveyMonkey) was sent to the e-mails of potential research participants. Practising pharmacists and resident pharmacists in British Columbia, Canada; the country of Qatar; and the country of Uganda were eligible for inclusion. The survey was designed to assess knowledge and perceptions, and to create a baseline inventory of current practice and information resources used in practice. Results: The mean knowledge assessment scores of pharmacists in Canada, Qatar and Uganda were 62.9%, 53.3%, and 57.7%, respectively (p < 0.05). Pharmacists in British Columbia scored higher on knowledge assessment than pharmacists in Qatar (p < 0.05), but other country comparisons were not significant. No predefined factors (gender, years of experience, practice area or parental status) were found to be significant in determining the knowledge score. More than two-thirds of pharmacists expressed interest in participating in continuing education opportunities in maternal-fetal medicine. Conclusion: Pharmacists have differing levels of knowledge in the area of maternal-fetal medicine. Continuing education and degree curricula should be reviewed and developed to fill the knowledge gaps of student pharmacists and practising pharmacists in maternal-fetal medicine. PMID:25364351

  11. The Perceived Effectiveness of the School Based Support Program: A National Capacity Building Initiative by the National Center for Educational Development at Qatar University

    ERIC Educational Resources Information Center

    Abu-Tineh, Abdullah M.

    2015-01-01

    Purpose: This study aims to investigate the effectiveness of the school-based support program (SBSP) as perceived by teachers who participated in this program. SBSP was designed to collectively build the capacity and promote the overall quality of teaching and learning in identified independent schools in the State of Qatar.…

  12. Characterizing the ADHD Phenotype for Genetic Studies

    ERIC Educational Resources Information Center

    Stevenson, Jim; Asherson, Phil; Hay, David; Levy, Florence; Swanson, Jim; Thapar, Anita; Willcutt, Erik

    2005-01-01

    The genetic study of ADHD has made considerable progress. Further developments in the field will be reliant in part on identifying the most appropriate phenotypes for genetic analysis. The use of both categorical and dimensional measures of symptoms related to ADHD has been productive. The use of multiple reporters is a valuable feature of the…

  13. Objective structured clinical examination for pharmacy students in Qatar: cultural and contextual barriers to assessment.

    PubMed

    Wilby, K J; Black, E K; Austin, Z; Mukhalalati, B; Aboulsoud, S; Khalifa, S I

    2016-04-01

    This study aimed to evaluate the feasibility and psychometric defensibility of implementing a comprehensive objective structured clinical examination (OSCE) on the complete pharmacy programme for pharmacy students in a Middle Eastern context, and to identify facilitators and barriers to implementation within new settings. Eight cases were developed, validated, and had standards set according to a blueprint, and were assessed with graduating pharmacy students. Assessor reliability was evaluated using inter-class coefficients (ICCs). Concurrent validity was evaluated by comparing OSCE results to professional skills course grades. Field notes were maintained to generate recommendations for implementation in other contexts. The examination pass mark was 424 points out of 700 (60.6%). All 23 participants passed. Mean performance was 74.6%. Low to moderate inter-rater reliability was obtained for analytical and global components (average ICC 0.77 and 0.48, respectively). In conclusion, OSCE was feasible in Qatar but context-related validity and reliability concerns must be addressed prior to future iterations in Qatar and elsewhere. PMID:27432407

  14. Education for a New Era: Design and Implementation of K-12 Education Reform in Qatar. Monograph

    ERIC Educational Resources Information Center

    Brewer, Dominic J.; Augustine, Catherine H.; Zellman, Gail L.; Ryan, Gery; Goldman, Charles A.; Stasz, Cathleen; Constant, Louay

    2007-01-01

    The leadership of Qatar has a social and political vision that calls for improving the outcomes of the Qatari K-12 education system. With this vision in mind, the leadership asked RAND to examine Qatar's K-12 education system, to recommend options for building a world-class system, and, subsequently, to develop the chosen option and support its…

  15. Small Steps Lead to Quality Assurance and Enhancement in Qatar University

    ERIC Educational Resources Information Center

    Al Attiyah, Asma; Khalifa, Batoul

    2009-01-01

    This paper presents a brief overview of Qatar University's history since it was started in 1973. Its primary focus is on the various small, but important, steps taken by the University to address the needs of quality assurance and enhancement. The Qatar University Reform Plan is described in detail. Its aims are to continually improve the quality…

  16. The Migrant Effect: An Evaluation of Native Academic Performance in Qatar

    ERIC Educational Resources Information Center

    Cheema, Jehanzeb R.

    2014-01-01

    Recent data have suggested that despite massive outlays on educational reform Qatar consistently ranks as one of the least academically proficient countries in key areas of literacy. Of the seventy-four countries that participated in PISA 2009 Qatar ranked between sixty-seven and sixty-nine in mathematics, reading and science literacy. Although…

  17. The Private-Public Literacy Divide amid Educational Reform in Qatar: What Does PISA Tell Us?

    ERIC Educational Resources Information Center

    Cheema, Jehanzeb R.

    2015-01-01

    The education system in Qatar comprises of both private schools, which receive money through student fees, and public schools, which are fully government-funded. In the mid-2000s, Qatar started its transition towards an independent school model with the aim of eventually converting all public schools into government-supported independent schools.…

  18. Concerns and considerations among caregivers of a child with autism in Qatar

    PubMed Central

    2012-01-01

    Background Autism impacts the lives of the family looking after a child with the condition in different ways, and forces family members to modify their daily lives to suit their reality. To our knowledge, no previous research investigated concern and considerations of parents/caregivers of children with autism in Qatar or the Arabic speaking Middle Eastern region. Methods Caregivers of a child who was between the age of 3 to17 years old at the time of the study and who was diagnosed with ASD (Autistic Group or AG) were recruited from the two main developmental pediatric and children rehabilitation clinics in Qatar. The control group (non-autism group, or NAG) was represented by caregivers of a non-autistic child between the age of 3 to 17 years old at the time of the study and who were visiting a family clinic of a primary health care facility for routine medical check-up. Data collected from both groups included related to the child (e.g. the child’s date of birth, his/her relation to the caregiver, number of siblings, number of hours of sleep in a day, number of hours spent watching television or videos prior to age 3, time spent indoors prior to age 3, absenteeism from school, and use of a nanny to care for the child) and to the caregiver (education level, profession, level of consanguinity using the phylogram method). In addition to these questions, caregivers in the AG were asked specific questions around maternal concern and considerations in respect to the future of their children and the specialized services they receive. Results Children in the autism group spent more time indoors, watching television, or sleeping than children in the non-autism group. Only around 40% of caregivers in the autism group said they would encourage their child to get married and become a parent when s/he grows up. A number of caregivers of children with autism frequently utilize specialized rehabilitation services; others did express their needs for these services and made

  19. Analysis of pediatric trauma data from a hospital based trauma registry in Qatar

    PubMed Central

    Alyafei, Khalid A; Toaimah, Fatihi; El Menyar, Ayman; Al Thani, Hassan; Youssef, Bashir; Mollazehi, Muneera; Consunji, Rafael

    2015-01-01

    Background: Trauma is the leading killer in the young age children, but data about the injury burden on pediatric population are lacking. The aim of this study is to describe the epidemiology and outcome of the traumatic injuries among children in Qatar. Materials and Methods: This is a retrospective analysis of a trauma registry database, which reviewed all cases of serious traumatic injury (ISS ≥ 9) to children aged 0–18 years who were admitted to the national pediatric Level I trauma center at the Hamad General Hospital (HGH), over a period of one year. Data included demographics, day of injuries, location, time, type and mechanism of injuries, co-morbidity, safety equipment use, pre-hospital intubation, mode of pre-hospital transport, Glasgow Coma Scale (GCS), Injury Severity Score (ISS), emergency department (ED) intervention, hospital length of stay and mortality outcome. Results: The incidence of severe pediatric trauma was 163 per 280,000 children who visited the ED of HGH in 2011. Out of them, 83% were male, mean age was 9.6 ± 5.9 years and mortality rate was 1.8%. On presentation to the ED, the mean ISS was 13.9 ± 6.6 and GCS was 13.4 ± 3.8. Over half of the patients needed ICU admission. For the ages 0-4 years, injuries most frequently occurred at home; for 5-9 years (59%) and 15-18 years (68%), the street; and for 10-14 years (50%), sports and recreational sites. The most common mechanisms of injury for the age groups were falls for 0-4 years, motor vehicle collision (MVC) or pedestrian injury for 5-9 years, all-terrain vehicle (ATV)/bicycle injuries for 10-14 years, and MVC injuries for 15-18 years. Head (34%) and long bone (18%) injuries were the most common, with 18% suffering from polytrauma. None of the patients were using safety equipment when injured. Conclusion: Traumatic injuries to children have an age- and mechanism-specific pattern in Qatar. This has important implications for the formulation of focused injury prevention programs for

  20. RR Lyrae Stars in the GCVS Observed by the Qatar Exoplanet Survey

    NASA Astrophysics Data System (ADS)

    Bramich, D. M.; Alsubai, K. A.; Arellano Ferro, A.; Parley, N. R.; Collier Cameron, A.; Horne, K.; Pollacco, D.; West, R. G.

    2014-05-01

    We used the light curve archive of the Qatar Exoplanet Survey to investigate the RR Lyrae variable stars listed in the GCVS. Of 588 variables studied, we reclassified 14 as eclipsing binaries, one as an RS CVn type variable, one as an irregular variable, four as classical Cepheids, and one as a type II Cepheid, while also improving their periods. We also report new RR Lyrae sub-type classifications for 65 variables and improve on the GCVS period estimates for 135 RR Lyrae variables. There are seven double-mode RR Lyrae stars in the sample for which we measured their fundamental and first overtone periods. Finally, we detected the Blazhko effect in 38 of the RR Lyrae stars for the first time and we successfully measured the Blazhko period for 26 of them.

  1. The Ischemic Stroke Genetics Study (ISGS) Protocol

    PubMed Central

    Meschia, James F; Brott, Thomas G; Brown, Robert D; Crook, Richard JP; Frankel, Michael; Hardy, John; Merino, José G; Rich, Stephen S; Silliman, Scott; Worrall, Bradford Burke

    2003-01-01

    Background The molecular basis for the genetic risk of ischemic stroke is likely to be multigenic and influenced by environmental factors. Several small case-control studies have suggested associations between ischemic stroke and polymorphisms of genes that code for coagulation cascade proteins and platelet receptors. Our aim is to investigate potential associations between hemostatic gene polymorphisms and ischemic stroke, with particular emphasis on detailed characterization of the phenotype. Methods/Design The Ischemic Stroke Genetic Study is a prospective, multicenter genetic association study in adults with recent first-ever ischemic stroke confirmed with computed tomography or magnetic resonance imaging. Patients are evaluated at academic medical centers in the United States and compared with sex- and age-matched controls. Stroke subtypes are determined by central blinded adjudication using standardized, validated mechanistic and syndromic classification systems. The panel of genes to be tested for polymorphisms includes β-fibrinogen and platelet glycoprotein Ia, Iba, and IIb/IIIa. Immortalized cell lines are created to allow for time- and cost-efficient testing of additional candidate genes in the future. Discussion The study is designed to minimize survival bias and to allow for exploring associations between specific polymorphisms and individual subtypes of ischemic stroke. The data set will also permit the study of genetic determinants of stroke outcome. Having cell lines will permit testing of future candidate risk factor genes. PMID:12848902

  2. Antenatal genetic studies in twin pregnancies.

    PubMed

    Redwine, F O; Cruikshank, D P; Brown, J

    1984-01-01

    The diagnosis of multiple gestation at the time of genetic amniocentesis is a routine occurrence. In a combined series of 2765 patients referred for antenatal genetic studies from the Medical College of Virginia and the University of Iowa, 34 twin pregnancies were encountered (1.2%). Twenty-six of the patients with twins were referred for advanced maternal age. The other indications were previous neural tube defects (1), previous trisomy 21 (2), known carriers of Tay Sachs disease (2), previous Turner's syndrome (1), family history of trisomy 21 (1), and one pregnancy was referred because of an abnormal ultrasound. Amniocentesis procedures, outcome of the twin pregnancies, and genetic counseling issues, are discussed. PMID:6741416

  3. Genetic studies in the Amish community.

    PubMed

    Patton, Michael A

    2005-01-01

    The Amish community was established in Pennsylvania, Ohio and Indiana. They form a distinct and biologically isolated community by virtue of their strong cultural and religious beliefs. This paper outlines aspects of the Amish culture and reviews some of the recent genetic studies that have been undertaken in this community. PMID:16096212

  4. Procedures of recruiting, obtaining informed consent, and compensating research participants in Qatar: findings from a qualitative investigation

    PubMed Central

    2014-01-01

    Background Very few researchers have reported on procedures of recruiting, obtaining informed consent, and compensating participants in health research in the Arabian Gulf Region. Empirical research can inform the debate about whether to adjust these procedures for culturally diverse settings. Our objective was to delineate procedures related to recruiting, obtaining informed consent, and compensating health research participants in the extremely high-density multicultural setting of Qatar. Methods During a multistage mixed methods project, field observations and qualitative interviews were conducted in a general medicine clinic of a major medical center in Qatar. Participants were chosen based on gender, age, literacy, and preferred language, i.e., Arabic, English, Hindi and Urdu. Qualitative analysis identified themes about recruitment, informed consent, compensation, and other research procedures. Results A total of 153 individuals were approached and 84 enrolled; the latter showed a diverse age range (18 to 75 years); varied language representation: Arabic (n = 24), English (n = 20), Hindi (n = 20), and Urdu (n = 20); and balanced gender distribution: women (n = 43) and men (n = 41). Primary reasons for 30 declinations included concern about interview length and recording. The study achieved a 74% participation rate. Qualitative analytics revealed key themes about hesitation to participate, decisions about participation with family members as well as discussions with them as “incidental research participants”, the informed consent process, privacy and gender rules of the interview environment, reactions to member checking and compensation, and motivation for participating. Vulnerability emerged as a recurring issue throughout the process among a minority of participants. Conclusions This study from Qatar is the first to provide empirical data on recruitment, informed consent, compensation and other research procedures in a general

  5. Presymptomatic studies in genetic frontotemporal dementia.

    PubMed

    Rohrer, J D; Warren, J D; Fox, N C; Rossor, M N

    2013-10-01

    Approximately 20% of patients with the neurodegenerative disorder frontotemporal dementia (FTD) have an autosomal dominant pattern of inheritance. Genetic FTD is caused by mutations in three genes in most cases (progranulin, microtubule-associated protein tau and chromosome 9 open reading frame 72) although a number of other genes are rare causes. Studies of other neurodegenerative diseases have shown imaging and biomarker evidence of disease onset many years prior to the development of symptoms. Similar studies in genetic FTD are now revealing evidence of a series of presymptomatic changes, initially in plasma biomarkers followed by MR imaging abnormalities of functional and structural connectivity and then grey matter atrophy. Lastly, neuropsychometric tests become abnormal in proximity to the onset of symptoms. Such studies have been relatively small until now but research centres with an expertise in genetic FTD are now forming consortia such as the Genetic Frontotemporal Dementia Initiative (GenFI) to create larger cohorts that can form the basis of future clinical trials. PMID:24012408

  6. Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V).

    PubMed

    Abdul Wahab, A; Al Thani, G; Dawod, S T; Kambouris, M; Al Hamed, M

    2001-04-01

    Twenty-nine subjects (17 families) with cystic fibrosis belonging to the same Bedouin tribe were screened for cystic fibrosis transmembrane regulator gene mutations (CFTR). Homozygous I1234V mutation in exon 19 was identified in all families with a relatively high rate of consanguinity (96.6 per cent). The homozygous I1234V mutation tended to present with a variable degree of pulmonary disease, pancreatic insufficiency and electrolyte imbalance. Homozygous I1234V was found to be a common mutation in the studied Bedouin tribe in Qatar. PMID:11336127

  7. Evaluation of the atmospheric model WRF on the Qatar peninsula for a converging sea-breeze event

    NASA Astrophysics Data System (ADS)

    Balan Sobhana, Sandeepan; Nayak, Sashikant; Panchang, Vijay

    2016-04-01

    Qatar, a narrow peninsula covering an area of 11437 sq km, extends northwards into the Arabian Gulf for about 160km and has a maximum width of 88km. The convex shape of the coast-line and narrowness of the peninsula results in the Qatar region experiencing complex wind patterns. The geometry is favorable for formation of the land-sea breeze from both coastal sides of the peninsula. This can lead to the development of sea breeze convergence zones in the middle of the country. Although circulations arising from diurnal thermal contrast of land and water are amongst most intensively studied meteorological phenomena, there is no reported study for the Qatar peninsula and very few studies are reported for the Arabian Gulf region as whole. It is necessary to characterize the wind field for applications such as assessing air pollution, renewable energy etc. A non-hydrostatic mesoscale model, Weather Research and Forecast (WRF) with a nested high resolution grid permits the investigation of such fine scale phenomena. Data from eighteen land based Automated Weather Stations (AWS) and two offshore buoys deployed and maintained by the Qatar Meteorological Department were analyzed. Based on the analysis a clear case of sea breeze convergence were seen on 18 September 2015. Model simulations were used to investigate the synoptic conditions associated with the formation of this event. The season is characterized by week ambient north westerly wind over the Arabian Gulf. The WRF model performance is validated using observed in-situ data. Model simulations show that vertical extent of sea breeze cell was up to 1 km and the converging sea breeze regions were characterized with high vertical velocities. The WRF simulation also revealed that with high resolution, the model is capable of reproducing the fine scale patterns accurately. The error of predictions in the inner domain (highest resolution) are found to be relatively lower than coarse resolution domain. The maximum wind speed

  8. 76 FR 38614 - Transportation Infrastructure/Multimodal Products and Services Trade Mission to Doha, Qatar, and...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-07-01

    ... and strategies; mass transportation systems; advanced vehicle technologies and intelligent...- modal freight and intelligent supply chain management, provides significant business opportunities in... Mission to Qatar and the U.A.E. must complete and timely submit an application package for...

  9. Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.

    PubMed

    Fahiminiya, S; Almuriekhi, M; Nawaz, Z; Staffa, A; Lepage, P; Ali, R; Hashim, L; Schwartzentruber, J; Abu Khadija, K; Zaineddin, S; Gamal, H; Majewski, J; Ben-Omran, T

    2014-08-01

    Whole exome sequencing (WES) has greatly facilitated the identification of causal mutations for diverse human genetic disorders. We applied WES as a molecular diagnostic tool to identify disease-causing genes in consanguineous families in Qatar. Seventeen consanguineous families with diverse disorders were recruited. Initial mutation screening of known genes related to the clinical diagnoses did not reveal the causative mutations. Using WES approach, we identified the definitive disease-causing mutations in four families: (i) a novel nonsense homozygous (c.1034C>G) in PHKG2 causing glycogen storage disease type 9C (GSD9C) in a male with initial diagnosis of GSD3; (ii) a novel homozygous 1-bp deletion (c.915del) in NSUN2 in a male proband with Noonan-like syndrome; (iii) a homozygous SNV (c.1598C>G) in exon 11 of IDUA causing Hurler syndrome in a female proband with unknown clinical diagnosis; (iv) a de novo known splicing mutation (c.1645+1G>A) in PHEX in a female proband with initial diagnosis of autosomal recessive hypophosphatemic rickets. Applying WES as a diagnostic tool led to the unambiguous identification of disease-causing mutations in phenotypically complex disorders or correction of the initial clinical diagnosis in ˜25% of our cases. PMID:24102521

  10. Impact of clinical pharmacy services in a short stay unit of a hospital emergency department in Qatar.

    PubMed

    Abdelaziz, Hani; Al Anany, Rasha; Elmalik, Ashraf; Saad, Mohammad; Prabhu, Kirti; Al-Tamimi, Haleema; Salah, Salem Abu; Cameron, Peter

    2016-08-01

    Background The presence of a clinical pharmacist in a hospital's Emergency Department (ED) is important to decrease the potential for medication errors. To our knowledge, no previous studies have been conducted to evaluate the impact of implementing clinical pharmacy services in the ED in Qatar. Objective To characterize the contributions of clinical pharmacists in a short stay unit of ED in order to implement and scale-up the service to all ED areas in the future. Methods A retrospective study conducted for 7 months in the ED of Hamad General Hospital, Qatar. The intervention recommendations were made by clinical pharmacists to the physician in charge during medical rounds. Results A total of 824 documented pharmacist recommendations were analyzed. The interventions included the following: Providing information to the physician (24.4 %) and recommending medication discontinuation (22.0 %), dose adjustment (19.3 %), medication addition (16.0 %), changes in frequency of medications (7.6 %), medication resumption (5.7 %), and patient education (5.0 %). Conclusion Clinical pharmacists in the ED studied play an important role in patient care. PMID:27033505

  11. Henoch-Schöenlein syndrome in Qatar: the effects of steroid therapy and paucity of renal involvement.

    PubMed

    Dawod, S T; Akl, K F

    1990-01-01

    This is a retrospective study of 40 patients admitted to Hamad General Hospital in the state of Qatar between January 1983 and December 1987 with the diagnosis of Henoch-Schöenlein syndrome. Of the 40 patients, 25 were boys and 15 were girls, with a ratio of 1.6:1. Ages ranged from 2 years 3 months to 13 years, with a mean of 6 years. There were six episodes of recurrence in four patients. There was a clustering of cases in late summer and early winter. About half of the patients had a history of preceding upper respiratory infection. All of them had the typical skin rash. The percentages of joint, gastro-intestinal and renal manifestations were 80%, 65% and 17.39%, respectively. One patient had penile swelling which has not been reported before. Steroid therapy seemed to enhance early resolution of abdominal pain but did not affect the course of the syndrome. Sixty-seven per cent of the patients were followed up for from 4 weeks to 5 years, with a mean of 8 months. Only one patient with renal involvement continued to have proteinuria with microscopic haematuria and hypertension. The rest were normal within about 2 months. The remarkably low incidence of renal involvement in our study may be related to local variations in causative factors. Henoch-Schöenlein syndrome is a milder disease in Qatar than in other countries. PMID:1703745

  12. Bio-repository of DNA in stroke: a study protocol of three ancestral populations

    PubMed Central

    Cotlarciuc, Ioana; Khan, Muhammad Saleem; Maheshwari, Ankita; Yadav, Sunaina; Khan, Fahmi Yousif; Al-Hail, H; de Silva, Ranil; Gorthi, S P; Gupta, Salil; Sharma, Shri Ram; Sylaja, P N; Prasad, Kameshwar; Sharma, Pankaj

    2012-01-01

    Stroke is a leading cause of death and disability in the world. Identifying the genes underlying stroke risk may help us to improve our understanding of the mechanisms that cause stroke and also identify novel therapeutic targets. To have sufficient power to disentangle the genetic component of stroke, large-scale highly phenotyped DNA repositories are necessary. The BRAINS (Bio-repository of DNA in stroke) study aims to recruit subjects with all subtypes of stroke as well as controls from UK, India, Sri Lanka and Qatar. BRAINS-UK will include 1500 stroke patients of European ancestry as well as British South Asians. BRAINS-South Asia aims to recruit 3000 stroke subjects and 3000 controls from across India and Sri Lanka. BRAINS-Middle East aims to enrol 1500 stroke patients from Qatar. The controls for BRAINS-Middle East will be recruited from a population-based Qatari Biobank. With the addition of new recruitment centres in India and Qatar, we present an updated version of the BRAINS study protocol. This is the first international DNA biobank for stroke patients and controls from the Middle East. By investigating the influence of genetic factors on stroke risk in European, South Asian and Middle Eastern populations, BRAINS has the potential to improve our understanding of genetic differences between these groups and may lead to new population-specific therapeutic targets. PMID:24175068

  13. Investigating chlorophyll and nitrogen levels of mangroves at Al-Khor, Qatar: an integrated chemical analysis and remote sensing approach.

    PubMed

    Al-Naimi, Noora; Al-Ghouti, Mohammad A; Balakrishnan, Perumal

    2016-05-01

    Mangroves are unique ecosystems that dominate tropical and subtropical coastlines around the world. They provide shelter and nursery to wide variety of species such as fish and birds. Around 73 species of mangroves were recognized around the world. In Qatar, there is only one mangrove species Avicennia marina that is predominant along the northeastern coast. Assessing the health of these valuable ecosystems is vital for protection, management, and conservation of those resources. In this study, an integrated approach of chemical and remote sensing analysis was implemented to investigate the current status of the mangrove trees in Al-Khor, Qatar. Fifteen different A. marina trees from different locations in the mangrove forest were examined for their chlorophyll and nitrogen content levels. Soil analysis was also conducted to understand the effect of moisture on nitrogen availability. Results shows that currently, mangroves are in a good status in terms of nitrogen availability and chlorophyll levels which are related and both are key factors for photosynthesis. Remote sensing techniques were used for chlorophyll prediction. The results showed that these methods have the potential to be used for chlorophyll prediction and estimation. PMID:27048493

  14. Getting Its Ducks in a Row? Qatar Foundation's Agreement with HEC Paris and the Launch of the Qatar Foundation Management, Education and Research Centre

    ERIC Educational Resources Information Center

    Observatory on Borderless Higher Education, 2010

    2010-01-01

    Last week, private, non-profit organisation the Qatar Foundation (QF) announced a partnership agreement with French business institution HEC Paris to offer executive education programmes. According to the terms of the agreement, a full-time faculty will provide executive and short certificate programmes and corporate-specific training, including…

  15. Education for a New Era: Design and Implementation of K-12 Education Reform in Qatar. Executive Summary

    ERIC Educational Resources Information Center

    Brewer, Dominic J.; Augustine, Catherine H.; Zellman, Gail L.; Ryan, Gery; Goldman, Charles A.; Stasz, Cathleen; Constant, Louay

    2007-01-01

    The leadership of Qatar has a social and political vision that calls for improving the outcomes of the Qatari K-12 education system. With this vision in mind, the leadership asked RAND to examine Qatar's K-12 education system, to recommend options for building a world-class system, and, subsequently, to develop the chosen option and support its…

  16. Projected changes in climate extremes over Qatar and the Arabian Gulf region

    NASA Astrophysics Data System (ADS)

    Kundeti, K.; Kanikicharla, K. K.; Al sulaiti, M.; Khulaifi, M.; Alboinin, N.; Kito, A.

    2015-12-01

    The climate of the State of Qatar and the adjacent region is dominated by subtropical dry, hot desert climate with low annual rainfall, very high temperatures in summer and a big difference between maximum and minimum temperatures, especially in the inland areas. The coastal areas are influenced by the Arabian Gulf, and have lower maximum, but higher minimum temperatures and a higher moisture percentage in the air. The global warming can have profound impact on the mean climate as well as extreme weather events over the Arabian Peninsula that may affect both natural and human systems significantly. Therefore, it is important to assess the future changes in the seasonal/annual mean of temperature and precipitation and also the extremes in temperature and wind events for a country like Qatar. This study assesses the performance of the Coupled Model Inter comparison Project Phase 5 (CMIP5) simulations in present and develops future climate scenarios. The changes in climate extremes are assessed for three future periods 2016-2035, 2046-2065 and 2080-2099 with respect to 1986-2005 (base line) under two RCPs (Representative Concentrate Pathways) - RCP4.5 and RCP8.5. We analyzed the projected changes in temperature and precipitation extremes using several indices including those that capture heat stress. The observations show an increase in warm extremes over many parts in this region that are generally well captured by the models. The results indicate a significant change in frequency and intensity of both temperature and precipitation extremes over many parts of this region which may have serious implications on human health, water resources and the onshore/offshore infrastructure in this region. Data from a high-resolution (20km) AGCM simulation from Meteorological Research Institute of Japan Meteorological Agency for the present (1979-2003) and a future time slice (2075-2099) corresponding to RCP8.5 have also been utilized to assess the impact of climate change on

  17. Trauma research in Qatar: a literature review and discussion of progress after establishment of a trauma research centre.

    PubMed

    El-Menyar, A; Asim, M; Zarour, A; Abdelrahman, H; Peralta, R; Parchani, A; Al-Thani, H

    2016-11-01

    A structured research programme is one of the main pillars of a trauma care system. Despite the high rate of injury-related mortalities, especially road traffic accidents, in Qatar, little consideration has been given to research in trauma. This review aimed to analyse research publications on the subject of trauma published from Qatar and to discuss the progress of clinical research in Qatar and the Gulf Cooperation Council countries with special emphasis on trauma research. A literature search using PubMed and Google Scholar search engines located 757 English-language articles within the fields of internal medicine, surgery and trauma originating from Qatar between the years 1993 and 2013. A steep increase in the number of trauma publications since 2010 could be linked to the setting up of a trauma research centre in Qatar in 2011. We believe that establishing a research unit has made a major impact on research productivity, which ultimately benefits health care. PMID:26857718

  18. A generalized approach and computer tool for quantitative genetics study

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Quantitative genetics is one of the most important components to provide valuable genetic information for improving production and quality of plants and animals. The research history of quantitative genetics study could be traced back more than one hundred years. Since the Analysis of Variance (ANOV...

  19. Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The genus Capsicum represents one of several well characterized Solanaceous genera. A wealth of classical and molecular genetics research is available for the genus. Information gleaned from its cultivated relatives, tomato and potato, provide further insight for basic and applied studies. Early ...

  20. Evolutionary genetics in wild primates: combining genetic approaches with field studies of natural populations

    PubMed Central

    Tung, Jenny; Alberts, Susan C; Wray, Gregory A

    2010-01-01

    Ecological and evolutionary studies of wild primates hold important keys to understanding both the shared characteristics of primate biology and the genetic and phenotypic differences that make specific lineages, including our own, unique. Although complementary genetic research on nonhuman primates has long been of interest, recent technological and methodological advances now enable functional and population genetic studies in an unprecedented manner. In the past several years, novel genetic data sets have revealed new information about the demographic history of primate populations and the genetics of adaptively important traits. In combination with the rich history of behavioral, ecological, and physiological work on natural primate populations, genetic approaches promise to provide a compelling picture of primate evolution in the past and in the present day. PMID:20580115

  1. 3D laser scanning and modelling of the Dhow heritage for the Qatar National Museum

    NASA Astrophysics Data System (ADS)

    Wetherelt, A.; Cooper, J. P.; Zazzaro, C.

    2014-08-01

    Curating boats can be difficult. They are complex structures, often demanding to conserve whether in or out of the water; they are usually large, difficult to move on land, and demanding of gallery space. Communicating life on board to a visiting public in the terra firma context of a museum can be difficult. Boats in their native environment are inherently dynamic artifacts. In a museum they can be static and divorced from the maritime context that might inspire engagement. New technologies offer new approaches to these problems. 3D laser scanning and digital modeling offers museums a multifaceted means of recording, monitoring, studying and communicating watercraft in their care. In this paper we describe the application of 3D laser scanning and subsequent digital modeling. Laser scans were further developed using computer-generated imagery (CGI) modeling techniques to produce photorealistic 3D digital models for development into interactive, media-based museum displays. The scans were also used to generate 2D naval lines and orthographic drawings as a lasting curatorial record of the dhows held by the National Museum of Qatar.

  2. Sport events and climate for visitors—the case of FIFA World Cup in Qatar 2022

    NASA Astrophysics Data System (ADS)

    Matzarakis, Andreas; Fröhlich, Dominik

    2015-04-01

    The effect of weather on sport events is not well studied. It requires special attention if the event is taking place at a time and place with extreme weather situations. For the world soccer championship in Qatar (Doha 2022), human biometeorological analysis has been performed in order to identify the time of the year that is most suitable in terms of thermal comfort for visitors attending the event. The analysis is based on thermal indices like Physiologically Equivalent Temperature (PET). The results show that this kind of event may be not appropriate for visitors, if it is placed during months with extreme conditions. For Doha, this is the period from May to September, when conditions during a large majority of hours of the day cause strong heat stress for the visitors. A more appropriate time would be the months November to February, when thermally comfortable conditions are much more frequent. The methods applied here can quantify the thermal conditions and show limitations and possibilities for specific events and locations.

  3. Composition of Atmospheric Dust from Qatar in the Arabian Gulf

    NASA Astrophysics Data System (ADS)

    Yigiterhan, O.; Al-Ansari, I. S.; Abdel-Moati, M.; Al-Ansi, M.; Paul, B.; Nelson, A.; Turner, J.; Murray, J. W.; Alfoldy, B. Z.; Mahfouz, M. M. K.; Giamberini, M.

    2015-12-01

    Samples of atmospheric dust from Qatar have been collected and analyzed for major and trace elemental composition. Twenty-one samples were collected in 2014 and 2015 from Doha, Al Khor, Katara, Sealine, and Al Waab by a variety of techniques. Some samples were collected during the megastorms that occurred in April 2015. Back trajectories were determined for each sample using the NOAA HYSPLIT model over a 50 hour time interval. Our samples were about equally divided between northerly (n=12; northern Saudi Arabia, Kuwait or Iraq) and southerly (n=8; SE Saudi Arabia, United Arab Emirates and Oman) sources. One sample originated directly westward, in Saudi Arabia. Samples were microwave-assisted total acid digested (HF+HCl+HNO3) and analyzed by inductively coupled plasma-mass spectroscopy (ICP-MS) and inductively coupled plasma-optical emission spectroscopy (ICP-OES). There are only 12 out of 23 elements for which the Qatari dust was enriched relative to upper continental crust (UCC). Calcium was especially enriched at 400% relative to UCC. About 33% of the total sample mass was CaCO3, reflecting the composition of surface rocks in the source areas. Of the elements typically associated with anthropogenic activity, Ag, Ni and Zn were the most enriched relative to UCC, with enrichment factors of 182%, 233% and 209%, respectively. Others like Pb and V were not significantly enriched, with enrichment factors of 25% and 3%, respectively. The major elements Al, Mn and Fe were depleted relative to UCC because of the strong enrichment in CaCO3, with enrichment factors of -58%, -35% and -45% respectively. We separately averaged the samples with northern and southern origins to see if composition could be used to identify source. Only three elements had a statistical difference. Pb and Na were higher in the samples from the Se while Cr was higher in those from the north.

  4. Horizontal well application in QGPC - Qatar, Arabian Gulf

    SciTech Connect

    Jubralla, A.F.; Al-Omran, J.; Al-Omran, S.

    1995-08-01

    As with many other areas in the world, the application of horizontal well technology in Qatar has changed the {open_quotes}old time{close_quotes} reservoir development philosophy and approach. QGPC`s first experience with this technology was for increased injectivity in an upper Jurassic reservoir which is comprised by alternating high and low permeable layers. The first well drilled in 1990 offshore was an extreme success and the application was justified for fieldwide implementation. Huge costs were saved as a result. This was followed by 2 horizontal wells for increased productivity in a typically tight (< 5 mD) chalky limestone of Cretaceous age. A fourth offshore well drilled in a thin (30 ft) and tight (10-100 mD) Jurassic dolomite overlaying a stack of relatively thick (25-70 ft) and {open_quotes}Watered Out{close_quotes} grain and grain-packstones, (500-4500 mD) indicated another viable and successful application. A similar approach in the Onshore Dukhan field has been adopted for another Upper Jurassic reservoir. The reservoir is 80 ft thick and is being developed by vertical wells. However, permeability contrast between the upper and lower cycles had caused preferential production and hence injection across the lower cycles, leaving the upper cycles effectively undrained. Horizontal wells have resulted in productivity and injectivity improvements by a factor 3 to 5 that of vertical wells. Therefore a field wide development scheme is being implemented. 3D seismic and the imaging tools, such as the FMS, reconciled with horizontal cores have assisted in understanding the lateral variation and the macro and micro architectural and structural details of these reservoirs. Such tools are essential for the optimum design of horizontal wells.

  5. Genetics

    MedlinePlus

    Homozygous; Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  6. Genetics

    MedlinePlus

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  7. Statistical Analysis in Genetic Studies of Mental Illnesses

    PubMed Central

    Zhang, Heping

    2011-01-01

    Identifying the risk factors for mental illnesses is of significant public health importance. Diagnosis, stigma associated with mental illnesses, comorbidity, and complex etiologies, among others, make it very challenging to study mental disorders. Genetic studies of mental illnesses date back at least a century ago, beginning with descriptive studies based on Mendelian laws of inheritance. A variety of study designs including twin studies, family studies, linkage analysis, and more recently, genomewide association studies have been employed to study the genetics of mental illnesses, or complex diseases in general. In this paper, I will present the challenges and methods from a statistical perspective and focus on genetic association studies. PMID:21909187

  8. Post-Secondary Education in Qatar: Employer Demand, Student Choice, and Options for Policy. Monograph

    ERIC Educational Resources Information Center

    Stasz, Cathleen; Eide, Eric R.; Martorell, Francisco

    2007-01-01

    Qatar has made significant efforts to improve post-secondary educational opportunities to ensure that its citizens are able to contribute to the country's social and economic goals. These initiatives, however, have not been subjected to a broad strategic review. The authors describe RAND's analysis of skill and occupational demands and related…

  9. A road map to Translational Medicine in Qatar and a model for the world.

    PubMed

    Marincola, Francesco M; Sheikh, Javaid I

    2012-01-01

    Translational Medicine (TM) in Qatar is part of a concerted effort of the Qatari medical and scientific leadership supported by a strong political will by Qatari authorities to deliver world-class health care to Qatari residents while participating in the worldwide quest to bridge the gap between bench-to-bedside-to-community. TM programs should embrace the Qatar National vision for research to become an international hub of excellence in research and development, based on intellectual merit, contributing to global knowledge and adhering to international standards, to innovate by translating new and original ideas into useful applications, to be inclusive at the national and international level, to build and maintain a competitive and diversified economy and ultimately improve the health and well-being of the Qatar's population. Although this writing focuses on Qatar, we hope that the thoughts expressed here may be of broader use for the development of any TM program particularly in regions where an established academic community surrounded by a rich research infrastructure and/or a vibrant biotechnology enterprise is not already present. PMID:22929646

  10. An International Collaboration: Establishing an Education Collection in a Library in Qatar

    ERIC Educational Resources Information Center

    Smith, Jane

    2008-01-01

    Texas A&M University has a history of international collaboration, cooperation and global outreach. Texas A&M University at Qatar provides engineering students in the Middle East with an education, and ultimately, a degree comparable to that found on our home campus in College Station. The Texas A&M University Libraries have provided curricular…

  11. "Hope in the Life": The Children of Qatar Speak about Inclusion

    ERIC Educational Resources Information Center

    Al Attiyah, Asma; Lazarus, Brenda

    2007-01-01

    Qatar supports the rights of children with special needs to obtain suitable opportunities to learn and be included with other children. However, the concept of inclusion in education is relatively new in this country. In 2001, the Special Needs Committee of the Supreme Council for Family Affairs set up a task force to begin planning for including…

  12. Quality of Life of Caregivers of Children with Autism in Qatar

    ERIC Educational Resources Information Center

    Kheir, Nadir; Ghoneim, Ola; Sandridge, Amy L.; Al-Ismail, Muna; Hayder, Sara; Al-Rawi, Fadhila

    2012-01-01

    Introduction: Caring for a child diagnosed with autism could affect the quality of life of the caregiver in various different ways. No previous research has assessed the quality of lives of caregivers of children with autism in Qatar. Methods: Caregivers of a child with autism between 3 and 17 years old were recruited from child rehabilitation…

  13. Lifelong Education in University Life in the Arab Countries: The Qatar University Experience.

    ERIC Educational Resources Information Center

    Sobeih, Nabil Ahmed Amer

    Suggestions for strengthening lifelong education at Qatar's University and other Arab universities are offered that might apply to other countries. Particular attention is devoted to: various views of the relative functions, content, and duration of initial and higher education; new procedures of admission and the evaluation of experience; new…

  14. International Trends in Health Science Librarianship Part 18: The Middle East (Iran, Qatar and Turkey).

    PubMed

    Zeraatkar, Kimia; Ayatollahi, Haleh; Havlin, Tracy; Neves, Karen; Şendir, Mesra

    2016-06-01

    This is the 18th in a series of articles exploring international trends in health science librarianship in the 21st century. The focus of the present issue is the Middle East (Iran, Qatar and Turkey). The next feature column will investigate trends in the Balkan States JM. PMID:27168258

  15. Development of Education in Qatar (1975/76 and 1976/77).

    ERIC Educational Resources Information Center

    Ministry of Education and Youth Welfare (Qatar).

    The national educational system of Qatar was established in 1956, when the discovery of oil provided a financial base for educational expansion. The government provides free education from primary school through the university and has stressed a system of incentives for students rather than declaring education compulsory on any level. Four types…

  16. Developing a School Finance System for K-12 Reform in Qatar

    ERIC Educational Resources Information Center

    Guarino, Cassandra M.; Galama, Titus; Constant, Louay; Gonzalez, Gabriella; Tanner, Jeffery C.; Goldman, Charles A.

    2009-01-01

    Reform-minded leaders of Qatar, who have embarked on a sweeping reform of their nation's education system, asked RAND to evaluate the education finance system that has been adopted and to offer suggestions for improvements. The authors analyze the system's evolution and resource allocation patterns between 2004 and 2006 and develop analytic tools…

  17. A study of the practice of individual genetic counsellors and genetic nurses in Europe.

    PubMed

    Skirton, Heather; Cordier, Christophe; Lambert, Debby; Hosterey Ugander, Ulrika; Voelckel, Marie-Antoinette; O'Connor, Anita

    2013-01-01

    Advances in genetics have meant that the genetic services are now accessed by increasing numbers of patients. One way of dealing with the pressure on services without jeopardising patient care is the inclusion of nonmedical genetic counsellors and genetic nurses in the genetic services team. However, a cohesive approach to the profession has been lacking in Europe, and an educational programme and registration system for European practitioners is required. The aim of this study was to ascertain the type of work undertaken by genetic nurses and counsellors in Europe and the context in which they practised. We used a cross-sectional survey design to collect data from 213 practitioners, either genetic nurses or genetic counsellors, from 18 European countries. Respondents completed the survey online, and data were analysed using descriptive statistics and cross-tabulations. The majority were involved in undertaking the initial contact with the patient (89.9 %) and explaining the genetic test to the patient (91.5 %), while 74 % ordered tests and 91.4 % obtained informed consent for such tests. Psychological support before and after genetic testing was provided by 80.2 % of respondents, and 82.1 % reported regularly managing cases autonomously. While the genetic counselling profession is barely established in some countries, counsellors are able to contribute substantially to patient care as part of the multi-disciplinary team. Further efforts to establish the profession at the European level through a registration process will enhance the confidence in this new group of allied health professionals. PMID:23055100

  18. Optimal Trend Tests for Genetic Association Studies of Heterogeneous Diseases

    PubMed Central

    Lee, Wen-Chung

    2016-01-01

    The Cochran-Armitage trend test is a standard procedure in genetic association studies. It is a directed test with high power to detect genetic effects that follow the gene-dosage model. In this paper, the author proposes optimal trend tests for genetic association studies of heterogeneous diseases. Monte-Carlo simulations show that the power gain of the optimal trend tests over the conventional Cochran-Armitage trend test is striking when the genetic effects are heterogeneous. The easy-to-use R 3.1.2 software (R Foundation for Statistical Computing, Vienna, Austria) code is provided. The optimal trend tests are recommended for routine use. PMID:27278756

  19. Seasonal Variability in Tropospheric Ozone Distribution Over Qatar

    NASA Astrophysics Data System (ADS)

    Ayoub, Mohammed; Ackermann, Luis

    2015-04-01

    We report on the vertical distribution and seasonal variability in tropospheric ozone over the Middle East through one year of weekly ozonesondes launched from Doha, Qatar during 2014. A total of 49 2Z-V7 DMT/EN-SCI Electrochemical Concentration Cell (ECC) ozonesondes employing a 1% buffered potassium iodide solution (KI), coupled with iMet-1-RS GPS radiosondes were launched around 1300 local time. The authors used the SkySonde telemetry software (developed by CIRES and NOAA/ESRL) and developed robust in-house data quality assurance and validation methodologies. The average height of the thermal tropopause is between 15-17.5 km (125-85 hPa). Monthly average relative humidity around the tropopause shows an enhancement during the months of June through the beginning of October. Monthly average temperature profiles show the development of the subtropical subsidence inversion around 5-6 km (450-520 hPa) between the months of April through October. The subsidence inversion is strongest during the months of June and July and is accompanied by a sharp drop in relative humidity over a 100-300 m in the vertical. The monthly average ozone background concentration between the Planetary Boundary Layer (PBL) height and the subsidence inversion increases from 50 ppb in the winter to almost 80 ppb in the summer months. An enhancement of up to 50% in the average ozone in the mid-to-upper troposphere (above the subsidence inversion) is strongest during the summer months (June through September) and results in average concentrations between 80-100 ppb. In the upper troposphere (above 13 km/200 hPa) ozone concentrations are highest during the spring and summer months. This is coupled with a drop in the average height of the tropopause. HYSPLIT back-trajectory analysis shows the enhancement in mid-to-upper tropospheric ozone in the summer is due to persistent high pressure over the Middle East between the months of June through September. Evidence of Stratosphere-Troposphere Exchange

  20. Expanding the Genetic Code for Biological Studies

    PubMed Central

    Wang, Qian; Parrish, Angela R.; Wang, Lei

    2009-01-01

    Summary Using an orthogonal tRNA-synthetase pair, unnatural amino acids can be genetically encoded with high efficiency and fidelity; and over forty unnatural amino acids have been site-specifically incorporated into proteins in E. coli, yeast, or mammalian cells. Novel chemical or physical properties embodied in these amino acids enable new means for tailored manipulation of proteins. This review summarizes the methodology and recent progress in expanding this technology to eukaryotic cells. Applications of genetically encoded unnatural amino acids are highlighted with reports on labeling and modifying proteins, probing protein structure and function, identifying and regulating protein activity, and generating proteins with new properties. Genetic incorporation of unnatural amino acids provides a powerful method for investigating a wide variety of biological processes both in vitro and in vivo. PMID:19318213

  1. A "Genetic Study" of the Galaxy

    NASA Astrophysics Data System (ADS)

    2006-09-01

    Looking in detail at the composition of stars with ESO's VLT, astronomers are providing a fresh look at the history of our home galaxy, the Milky Way. They reveal that the central part of our Galaxy formed not only very quickly but also independently of the rest. "For the first time, we have clearly established a 'genetic difference' between stars in the disc and the bulge of our Galaxy," said Manuela Zoccali, lead author of the paper presenting the results in the journal Astronomy and Astrophysics [1]. "We infer from this that the bulge must have formed more rapidly than the disc, probably in less than a billion years and when the Universe was still very young." ESO PR Photo 34a/06 ESO PR Photo 34a/06 The Field around Baade's Window The Milky Way is a spiral galaxy, having pinwheel-shaped arms of gas, dust, and stars lying in a flattened disc, and extending directly out from a spherical nucleus of stars in the central region. The spherical nucleus is called a bulge, because it bulges out from the disc. While the disc of our Galaxy is made up of stars of all ages, the bulge contains old stars dating from the time the galaxy formed, more than 10 billion years ago. Thus, studying the bulge allows astronomers to know more about how our Galaxy formed. To do this, an international team of astronomers [2] analysed in detail the chemical composition of 50 giant stars in four different areas of the sky towards the Galactic bulge. They made use of the FLAMES/UVES spectrograph on ESO's Very Large Telescope to obtain high-resolution spectra. The chemical composition of stars carries the signature of the enrichment processes undergone by the interstellar matter up to the moment of their formation. It depends on the previous history of star formation and can thus be used to infer whether there is a 'genetic link' between different stellar groups. In particular, comparison between the abundance of oxygen and iron in stars is very illustrative. Oxygen is predominantly produced in

  2. Strategies for enrollment of African Americans into cancer genetic studies.

    PubMed

    Ewing, Altovise; Thompson, Nicole; Ricks-Santi, Luisel

    2015-03-01

    The enrollment of ethnically diverse populations in genetic and genomic research is vital to the parity of benefits resulting from research with biological specimens. Herein, we discuss strategies that may effectively improve the recruitment of African Americans into genetics studies. Specifically, we show that engaging physicians, genetic counselors, and community members is essential to enrolling participants into genetic studies. We demonstrate the impact of utilizing African American genetic counselors on study enrollment rates and implementing a two-page consent form that improved on a lengthy and inefficient consenting process. Lastly, we provided participants with the option of donating saliva instead of blood for study purposes. Descriptive statistics were used. Using the aforementioned strategies, recruitment goals for the Genetic Basis of Breast Cancer Subtype Study at Howard University (HU) were met. Our overall results yielded 182 participants in 18 months. Recruitment strategies that involve the engagement of physicians, genetic counselors, and community members may help researchers increase the enrollment of ethnically diverse and hard-to-reach participants into genetic studies. PMID:24882437

  3. Strategies for Enrollment of African Americans into Cancer Genetic Studies

    PubMed Central

    Thompson, Nicole; Ricks-Santi, Luisel

    2014-01-01

    The enrollment of ethnically diverse populations in genetic and genomic research is vital to the parity of benefits resulting from research with biological specimens. Herein, we discuss strategies that may effectively improve the recruitment of African Americans into genetics studies. Specifically, we show that engaging physicians, genetic counselors, and community members is essential to enrolling participants into genetic studies. We demonstrate the impact of utilizing African American genetic counselors on study enrollment rates and implementing a two-page consent form that improved on a lengthy and inefficient consenting process. Lastly, we provided participants with the option of donating saliva instead of blood for study purposes. Descriptive statistics were used. Using the aforementioned strategies, recruitment goals for the Genetic Basis of Breast Cancer Subtype Study at Howard University (HU) were met. Our overall results yielded 182 participants in 18 months. Recruitment strategies that involve the engagement of physicians, genetic counselors, and community members may help researchers increase the enrollment of ethnically diverse and hard-to-reach participants into genetic studies. PMID:24882437

  4. Medical Genetics and the First Studies of the Genetics of Populations in Mexico.

    PubMed

    Barahona, Ana

    2016-09-01

    Following World War II (WWII), there was a new emphasis within genetics on studying the genetic composition of populations. This probably had a dual source in the growing strength of evolutionary biology and the new international interest in understanding the effects of radiation on human populations, following the atomic bombings in Japan. These global concerns were shared by Mexican physicians. Indeed, Mexico was one of the leading centers of this trend in human genetics. Three leading players in this story were Mario Salazar Mallén, Adolfo Karl, and Rubén Lisker. Their trajectories and the international networks in human genetics that were established after WWII, paved the way for the establishment of medical and population genetics in Mexico. Salazar Mallén's studies on the distribution and characterization of ABO blood groups in indigenous populations were the starting point while Karl's studies on the distribution of abnormal hemoglobin in Mexican indigenous populations showed the relationships observed in other laboratories at the time. It was Lisker's studies, however, that were instrumental in the development of population genetics in the context of national public policies for extending health care services to the Mexican population. In particular, he conducted studies on Mexican indigenous groups contributing to the knowledge of the biological diversity of human populations according to international trends that focused on the variability of human populations in terms of genetic frequencies. From the start, however, Lisker was as committed to the reconstruction of shared languages and practices as he was to building networks of collaboration in order to guarantee the necessary groundwork for establishing the study of the genetics of human populations in Mexico. This study also allows us to place Mexican science within a global context in which connected narratives describe the interplay between global trends and national contexts. PMID:27601615

  5. Genetic Breeding and Diversity of the Genus Passiflora: Progress and Perspectives in Molecular and Genetic Studies

    PubMed Central

    Cerqueira-Silva, Carlos Bernard M.; Jesus, Onildo N.; Santos, Elisa S. L.; Corrêa, Ronan X.; Souza, Anete P.

    2014-01-01

    Despite the ecological and economic importance of passion fruit (Passiflora spp.), molecular markers have only recently been utilized in genetic studies of this genus. In addition, both basic genetic researches related to population studies and pre-breeding programs of passion fruit remain scarce for most Passiflora species. Considering the number of Passiflora species and the increasing use of these species as a resource for ornamental, medicinal, and food purposes, the aims of this review are the following: (i) to present the current condition of the passion fruit crop; (ii) to quantify the applications and effects of using molecular markers in studies of Passiflora; (iii) to present the contributions of genetic engineering for passion fruit culture; and (iv) to discuss the progress and perspectives of this research. Thus, the present review aims to summarize and discuss the relationship between historical and current progress on the culture, breeding, and molecular genetics of passion fruit. PMID:25196515

  6. Genetic breeding and diversity of the genus Passiflora: progress and perspectives in molecular and genetic studies.

    PubMed

    Cerqueira-Silva, Carlos Bernard M; Jesus, Onildo N; Santos, Elisa S L; Corrêa, Ronan X; Souza, Anete P

    2014-01-01

    Despite the ecological and economic importance of passion fruit (Passiflora spp.), molecular markers have only recently been utilized in genetic studies of this genus. In addition, both basic genetic researches related to population studies and pre-breeding programs of passion fruit remain scarce for most Passiflora species. Considering the number of Passiflora species and the increasing use of these species as a resource for ornamental, medicinal, and food purposes, the aims of this review are the following: (i) to present the current condition of the passion fruit crop; (ii) to quantify the applications and effects of using molecular markers in studies of Passiflora; (iii) to present the contributions of genetic engineering for passion fruit culture; and (iv) to discuss the progress and perspectives of this research. Thus, the present review aims to summarize and discuss the relationship between historical and current progress on the culture, breeding, and molecular genetics of passion fruit. PMID:25196515

  7. Imaging genetics studies on monoaminergic genes in major depressive disorder.

    PubMed

    Won, Eunsoo; Ham, Byung-Joo

    2016-01-01

    Although depression is the leading cause of disability worldwide, current understanding of the neurobiology of depression has failed to be translated into clinical practice. Major depressive disorder (MDD) pathogenesis is considered to be significantly influenced by multiple risk genes, however genetic effects are not simply expressed at a behavioral level. Therefore the concept of endophenotype has been applied in psychiatric genetics. Imaging genetics applies anatomical or functional imaging technologies as phenotypic assays to evaluate genetic variation and their impact on behavior. This paper attempts to provide a comprehensive review of available imaging genetics studies, including reports on genetic variants that have most frequently been linked to MDD, such as the monoaminergic genes (serotonin transporter gene, monoamine oxidase A gene, tryptophan hydroxylase-2 gene, serotonin receptor 1A gene and catechol-O-methyl transferase gene), with regard to key structures involved in emotion processing, such as the hippocampus, amygdala, anterior cingulate cortex and orbitofrontal cortex. PMID:25828849

  8. Genetic Counseling of Adults with Williams Syndrome: A First Study

    PubMed Central

    Farwig, Katrina; Harmon, Amanda G.; Fontana, Kristina M.; Mervis, Carolyn B.; Morris, Colleen A.

    2010-01-01

    We report on a study of genetic counseling to 43 adults with Williams syndrome (WS). Participants were initially asked what they knew about how WS occurs. Genetic counseling was provided with a focus on the basic genetics of WS, recurrence risk, and on participants’ attitudes toward socio-cultural topics. Forty nine % indicated they would be okay or happy if their baby had WS, 44% said they would be sad or upset, and 5% were unsure. The sad/upset group was significantly older than the okay/happy group and a significantly higher proportion of the former group indicated they did not plan to have children. During the post counseling session participants were questioned to determine if they recalled the facts previously presented. Eighy one % correctly gave the odds that their child would have WS. Fifty three % considered the 50-50 odds to be a high chance. After genetic counseling, 61% were able to state something that had been taught, and 88% indicated they would want to test their baby for WS before birth. Ninety eight% would recommend genetic counseling to others. Findings indicate that based on the type of genetic counseling provided in this study, the majority of individuals with WS—a genetic disorder associated with intellectual disability but with relative strengths in (concrete) language and in verbal rote memory—are able to learn simple facts about the genetics of WS and are eager to respond to socio-cultural questions regarding topics typically included in genetic counseling sessions. PMID:20425790

  9. Evaluation of the timeliness and completeness of communicable disease reporting: Surveillance in The Cuban Hospital, Qatar

    PubMed Central

    Garcell, Humberto Guanche; Hernandez, Tania M. Fernandez; Abdo, Elmusbasher Abu Baker; Arias, Ariadna Villanueva

    2014-01-01

    Public health surveillance systems should be evaluated periodically, and should involve an assessment of system attributes. Objective: Evaluate hospital-based surveillance of communicable diseases using the elements of timeliness and data quality. Method: Descriptive study was conducted of communicable diseases reported at The Cuban Hospital, Qatar during January 2012 to December 2013. The completeness of notifications were assessed for contact number, address, place of work, and date of symptom onset. Time between the symptoms onset and physician notification, time between physician and Supreme Council of Health notification and time between physician notification and lab confirmation were calculated for each case. Analysis: Percentage of cases with documented essential information and 95% confidence interval (CI) were determined. Mean and standard deviation (SD) of time were calculated. Results: 1065 patients were reported, 75% were male, 80% non-qataries and 91.5% were group 1 (high priority) diseases. Symptom onset date was documented in 91.5% (95% CI, 89.8; 93.2) of cases; contact number in 84.7% (82.5;86.8), with lower frequencies for address (68.1%, 65.3;70.9) and place of work (60.5%, 57.5;63.4). Diagnostic time for tuberculosis was 61.7 days (SD 93.0), acute hepatitis 18.5 days (SD 17.6), typhoid fever 17.0 days (SD 11.6 days), other diseases of sexual transmission 300.2 days, chronic hepatitis 165 days and AIDS 154.5 days. The time of notification to the Supreme Council of Health for group 1 diseases was 1.2 days (SD 1.4). Conclusion: Our results show that the quality of essential data and timeliness is not sufficient to meet the needs of the health system. Additional studies should focus on the evaluation of time delay for diagnosis of high priority diseases. PMID:25320693

  10. Progress in genetic association studies of plasma lipids

    PubMed Central

    Asselbergs, Folkert W.; Lovering, Ruth C.; Drenos, Fotios

    2013-01-01

    Purpose of review This review summarizes recently published large-scale efforts elucidating the genetic architecture of lipid levels. A supplemental file with all genetic loci is provided for research purposes and we performed bioinformatic analyses of the genetic variants to give an oversight of involved pathways. Recent findings In total, 52 genes for HDL cholesterol, 42 genes for LDL cholesterol, 59 genes for total cholesterol, and 39 genes for triglycerides have been identified. Genetic overlap is present between the different traits and similar pathways are involved. Most of the SNPs that were detected in the European studies could be replicated in other ethnicities and these SNPs show the same direction of effect suggesting that the underlying genetic architecture of blood lipids is similar between ethnicities. Summary Genetic studies have identified many loci associated with plasma lipids and have provided insight into the underlying mechanisms of lipid homeostasis. Future research is needed to determine whether these loci may be novel targets for lipid-lowering therapy and for reducing cardiovascular disease risk. In addition, the proportion of genetic variance explained by these lipid loci is still limited and new large-scale genetic studies are ongoing to identify additional common and rare variants associated with lipid levels. PMID:23385652

  11. Library collaboration with medical humanities in an american medical college in qatar.

    PubMed

    Birch, Sally; Magid, Amani; Weber, Alan

    2013-11-01

    The medical humanities, a cross-disciplinary field of practice and research that includes medicine, literature, art, history, philosophy, and sociology, is being increasingly incorporated into medical school curricula internationally. Medical humanities courses in Writing, Literature, Medical Ethics and History can teach physicians-in-training communication skills, doctor-patient relations, and medical ethics, as well as empathy and cross-cultural understanding. In addition to providing educational breadth and variety, the medical humanities can also play a practical role in teaching critical/analytical skills. These skills are utilized in differential diagnosis and problem-based learning, as well as in developing written and oral communications. Communication skills are a required medical competency for passing medical board exams in the U.S., Canada, the UK and elsewhere. The medical library is an integral part of medical humanities training efforts. This contribution provides a case study of the Distributed eLibrary at the Weill Cornell Medical College in Qatar in Doha, and its collaboration with the Writing Program in the Premedical Program to teach and develop the medical humanities. Programs and initiatives of the DeLib library include: developing an information literacy course, course guides for specific courses, the 100 Classic Books Project, collection development of 'doctors' stories' related to the practice of medicine (including medically-oriented movies and TV programs), and workshops to teach the analytical and critical thinking skills that form the basis of humanistic approaches to knowledge. This paper outlines a 'best practices' approach to developing the medical humanities in collaboration among the medical library, faculty and administrative stakeholders. PMID:24223240

  12. Library Collaboration with Medical Humanities in an American Medical College in Qatar

    PubMed Central

    Birch, Sally; Magid, Amani; Weber, Alan

    2013-01-01

    The medical humanities, a cross-disciplinary field of practice and research that includes medicine, literature, art, history, philosophy, and sociology, is being increasingly incorporated into medical school curricula internationally. Medical humanities courses in Writing, Literature, Medical Ethics and History can teach physicians-in-training communication skills, doctor-patient relations, and medical ethics, as well as empathy and cross-cultural understanding. In addition to providing educational breadth and variety, the medical humanities can also play a practical role in teaching critical/analytical skills. These skills are utilized in differential diagnosis and problem-based learning, as well as in developing written and oral communications. Communication skills are a required medical competency for passing medical board exams in the U.S., Canada, the UK and elsewhere. The medical library is an integral part of medical humanities training efforts. This contribution provides a case study of the Distributed eLibrary at the Weill Cornell Medical College in Qatar in Doha, and its collaboration with the Writing Program in the Premedical Program to teach and develop the medical humanities. Programs and initiatives of the DeLib library include: developing an information literacy course, course guides for specific courses, the 100 Classic Books Project, collection development of ‘doctors’ stories’ related to the practice of medicine (including medically-oriented movies and TV programs), and workshops to teach the analytical and critical thinking skills that form the basis of humanistic approaches to knowledge. This paper outlines a ‘best practices’ approach to developing the medical humanities in collaboration among the medical library, faculty and administrative stakeholders. PMID:24223240

  13. Genetic Epidemiology of Tuberculosis Susceptibility: Impact of Study Design

    PubMed Central

    Stein, Catherine M.

    2011-01-01

    Several candidate gene studies have provided evidence for a role of host genetics in susceptibility to tuberculosis (TB). However, the results of these studies have been very inconsistent, even within a study population. Here, we review the design of these studies from a genetic epidemiological perspective, illustrating important differences in phenotype definition in both cases and controls, consideration of latent M. tuberculosis infection versus active TB disease, population genetic factors such as population substructure and linkage disequilibrium, polymorphism selection, and potential global differences in M. tuberculosis strain. These considerable differences between studies should be accounted for when examining the current literature. Recommendations are made for future studies to further clarify the host genetics of TB. PMID:21283783

  14. Environmental carcinogen exposure and lifestyle factors affecting cancer risk in Qatar: findings from a qualitative review.

    PubMed

    Denholm, R; Schüz, J; Straif, K; Ali, F M H; Bonas, F; Gjebrea, O; Sifton, C; Olsson, A C

    2016-03-01

    To meet the country's health goals for 2011-2016, a qualitative review of exposure to risk factors for cancer in Qatar was conducted in 2013. The review included exposure to environmental agents carcinogenic to humans (International Agency for Research on Cancer classification), as well as lifestyle factors known to affect cancer risk. Information from all available sources was assembled and reviewed. The levels of particulate matter reported in Qatar were in the upper range of ambient air pollutants reported internationally, and may influence the country's future lung cancer burden. The limited data on occupational exposure suggests that the greatest risks for workers in the construction industry are likely to be from environmental dust and related air pollutants. The greatest cancer risks for Qatari nationals may be lifestyle factors, particularly obesity, physical inactivity and tobacco use. Extended monitoring of the composition of and human exposure to air pollutants is recommended. PMID:27334079

  15. ALS: Recent Developments from Genetics Studies.

    PubMed

    Therrien, Martine; Dion, Patrick A; Rouleau, Guy A

    2016-06-01

    Amyotrophic lateral sclerosis (ALS) is a fatal disorder that is characterized by a progressive degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but 5-10 % of cases have a family history of the disease. High-throughput DNA sequencing and related genomic capture tools are methodological advances which have rapidly contributed to an acceleration in the discovery of genetic risk factors for both familial and sporadic ALS. It is interesting to note that as the number of ALS genes grows, many of the proteins they encode are in shared intracellular processes. This review will summarize some of the recent advances and gene discovery made in ALS. PMID:27113253

  16. Genetic studies of Unverricht-Luendborg disease

    SciTech Connect

    Lafreniere, R.G.; Dube, M.P.; Rouleau, G.A.

    1994-09-01

    Unverricht-Luendborg disease (ULD) is a progressive myoclonus epilepsy with an age of onset between 6 and 13 years, myoclonic jerks that progressively worsen, and mental deterioration. ULD shows an autosomal recessive mode of inheritance. The ULD gene has been genetically linked to 21q22.3, and more recently estimated to lie within 0.3 cM of the markers PFKL, D21S25, and D21S154, based on linkage disequilibrium. We have previously identified eight families affected with ULD and shown linkage to 21q22.3. In our efforts to identify the metabolic basis of the disease, we have identified several other families with ULD and are testing them for linkage to 21q22.3 We are also constructing a cosmid and YAC contig of the candidate EPM1 region in 21q22.3 and are in the process of identifying candidate genes therefrom.

  17. Comparison of intestinal parasitic infection in newly arrived and resident workers in Qatar

    PubMed Central

    2011-01-01

    Background The rapid growth of Qatar in the last two decades has been associated with an enormous expansion of building programs in its cities and in the provision of new service industries. This in turn has attracted a large influx of immigrant workers seeking employment in jobs associated with food handling, domestic service and the building industry. Many of these immigrants come from countries in the tropics and subtropics where intestinal parasitic infections are common. Methods We analyzed intestinal parasitic infections recorded in 2008 among immigrant and long-term resident workers in Doha city, Qatar (n = 1538). Stool examinations were carried out at the Hamad Medical Corporation and at the Medical Commission in Doha using standard procedures. Results Overall, 21.5% of subjects were infected with at least one of the species recorded (8 helminth and 4 protozoan species; the highest prevalence was for hookworms = 8.3%) and there were strong regional effects on prevalence of helminths, with subjects from North East Africa and Nepal showing particularly high prevalence. Most helminths declined in prevalence in subjects that acquired residency status in Qatar, especially among female subjects, but there was a marked exception among male Nepalese workers, who continued to harbour helminth infections (notably hookworms) after they became residents. Contrary to all other regional groups the prevalence of Giardia duodenalis was higher among Nepalese residents compared with new arrivals, while Blastocystis hominis infections were more common among residents of all regions, and especially among North East Africans. Conclusions Our analysis has identified male Nepalese workers as a particular risk group continuing to harbour hookworm infection and G. duodenalis as residents, and subjects from North East Africa are as particularly likely to acquire B. hominis infection after settling in the country. These conclusions have important implications for the health

  18. Characterising the aetiology of severe acute gastroenteritis among patients visiting a hospital in Qatar using real-time polymerase chain reaction

    PubMed Central

    2013-01-01

    Background Acute gastroenteritis (AGE) remains a common cause of clinic visits and hospitalizations, though its aetiology has not been determined in Qatar. Methods We performed a prospective, emergency department–based study of 288 children and adults with AGE. Stool specimens were collected at presentation from June to November 2009. Faecal specimens were tested, using real-time PCR, for a panel of four viral (norovirus, adenovirus, astrovirus and rotavirus) and bacterial pathogens. Results Viral and bacterial pathogens were detected in 131 (45.5%) and 34 (12.2%) of the 288 patients recruited. The most commonly detected pathogens were norovirus (28.5%), rotavirus (10.4%), followed by adenovirus (6.25%) and astrovirus (0.30%). Norovirus was the most commonly detected viral pathogen amongst all the age groups with an almost even distribution in all age groups. Rotavirus and adenovirus were more common in children under 5 yr of age. Astrovirus was found in only one person. Conclusions Viruses, especially noroviruses, are associated with severe diarrhoea in children and adults in Qatar. Further studies to confirm the findings and to explore the causes of illness among patients from whom a pathogen cannot be determined are needed. PMID:23865805

  19. Multiple Comparisons in Genetic Association Studies: A Hierarchical Modeling Approach

    PubMed Central

    Yi, Nengjun; Xu, Shizhong; Lou, Xiang-Yang; Mallick, Himel

    2016-01-01

    Multiple comparisons or multiple testing has been viewed as a thorny issue in genetic association studies aiming to detect disease-associated genetic variants from a large number of genotyped variants. We alleviate the problem of multiple comparisons by proposing a hierarchical modeling approach that is fundamentally different from the existing methods. The proposed hierarchical models simultaneously fit as many variables as possible and shrink unimportant effects towards zero. Thus, the hierarchical models yield more efficient estimates of parameters than the traditional methods that analyze genetic variants separately, and also coherently address the multiple comparisons problem due to largely reducing the effective number of genetic effects and the number of statistically ‘significant’ effects. We develop a method for computing the effective number of genetic effects in hierarchical generalized linear models, and propose a new adjustment for multiple comparisons, the hierarchical Bonferroni correction, based on the effective number of genetic effects. Our approach not only increases the power to detect disease-associated variants but also controls the Type I error. We illustrate and evaluate our method with real and simulated data sets from genetic association studies. The method has been implemented in our freely available R package BhGLM (http://www.ssg.uab.edu/bhglm/). PMID:24259248

  20. Perception and intentions to quit among waterpipe smokers in Qatar: a cross-sectional survey

    PubMed Central

    Jaam, M.; Al-Marridi, W.; Fares, H.; Izham, M.; Kheir, N.

    2016-01-01

    Objective: To evaluate the perceptions and attitudes of waterpipe (shisha) smokers in Qatar regarding the health risks associated with addiction and to determine their intentions to quit. Methods: A cross-sectional survey was conducted among 181 self-reported waterpipe smokers. Participants were approached in public places as well as in shisha cafes in Qatar. The questionnaire included items related to perception, attitude and intention to quit. Both descriptive and inferential statistics were performed for data analyses, with P ≤ 0.05 considered statistically significant. Results: About 44% of the respondents believed that waterpipe smoking was safer than cigarette smoking, and more than 70% would not mind if their children became involved in waterpipe smoking. More than half of the current smokers wanted to quit smoking shisha at some point, and 17% identified health concerns as the main motivating factor for their intention to quit. Conclusion: A large proportion of shisha smokers viewed shisha as a safer alternative to cigarettes, yet they admitted to intending to quit. These findings underscore the need to design educational interventions and awareness campaigns as well as impose stringent laws on waterpipe smoking in public places in Qatar. PMID:27051611

  1. Geology and hydrocarbon potential in the state of Qatar, Arabian Gulf

    SciTech Connect

    Alsharhan, A.S. ); Nairn, A.E.M. )

    1990-05-01

    The state of Qatar is situated in the southern Arabian Gulf and covers an area of 12,000 km{sup 2}. It is formed by a large, broad anticline, which is part of the regional south-southwest-north-northeast-trending Qatar-South Fars arch. The arch separates the two Infracambrian salt basins. The Dukhan field was the first discovery, made in 1939, in the Upper Jurassic limestones. Since then, a series of discoveries have been made so that Qatar has become one of the leading OPEC oil states. Hydrocarbon accumulations are widely dispersed throughout the stratigraphic column from upper Paleozoic to Cretaceous producing strata. The most prolific reservoirs are the Permian and Mesozoic shelf carbonate sequences. Minor clastic reservoirs occur in the Albian and Paleozoic sequences. Seals, mainly anhydrite and shale. occur both intraformationally and regionally. Several stratigraphic intervals contain source rocks or potential source rocks. The Silurian shales arc the most likely source of the hydrocarbon stored in the upper Paleozoic clastics and carbonates. The upper Oxfordian-middle Kimmeridgian rocks formed in the extensive starved basin during the Mesozoic period of sea level rise. Total organic carbon ranges between 1 and 6%, with the sulfur content approximately 9%. The source material consists of sapropelic liptodetrinite and algae. The geological background of the sedimentary facies through geologic time, stratigraphy, and structural evolution which control source, and the subsequent timing and migration of large-scale hydrocarbon generation are presented in detail.

  2. A road map to Translational Medicine in Qatar and a model for the world

    PubMed Central

    2012-01-01

    Translational Medicine (TM) in Qatar is part of a concerted effort of the Qatari medical and scientific leadership supported by a strong political will by Qatari authorities to deliver world-class health care to Qatari residents while participating in the worldwide quest to bridge the gap between bench-to-bedside-to-community. TM programs should embrace the Qatar National vision for research to become an international hub of excellence in research and development, based on intellectual merit, contributing to global knowledge and adhering to international standards, to innovate by translating new and original ideas into useful applications, to be inclusive at the national and international level, to build and maintain a competitive and diversified economy and ultimately improve the health and well-being of the Qatar’s population. Although this writing focuses on Qatar, we hope that the thoughts expressed here may be of broader use for the development of any TM program particularly in regions where an established academic community surrounded by a rich research infrastructure and/or a vibrant biotechnology enterprise is not already present. PMID:22929646

  3. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

    PubMed

    Yamamoto, Shinya; Jaiswal, Manish; Charng, Wu-Lin; Gambin, Tomasz; Karaca, Ender; Mirzaa, Ghayda; Wiszniewski, Wojciech; Sandoval, Hector; Haelterman, Nele A; Xiong, Bo; Zhang, Ke; Bayat, Vafa; David, Gabriela; Li, Tongchao; Chen, Kuchuan; Gala, Upasana; Harel, Tamar; Pehlivan, Davut; Penney, Samantha; Vissers, Lisenka E L M; de Ligt, Joep; Jhangiani, Shalini N; Xie, Yajing; Tsang, Stephen H; Parman, Yesim; Sivaci, Merve; Battaloglu, Esra; Muzny, Donna; Wan, Ying-Wooi; Liu, Zhandong; Lin-Moore, Alexander T; Clark, Robin D; Curry, Cynthia J; Link, Nichole; Schulze, Karen L; Boerwinkle, Eric; Dobyns, William B; Allikmets, Rando; Gibbs, Richard A; Chen, Rui; Lupski, James R; Wangler, Michael F; Bellen, Hugo J

    2014-09-25

    Invertebrate model systems are powerful tools for studying human disease owing to their genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal mutations on the Drosophila X chromosome to identify genes required for the development, function, and maintenance of the nervous system. We identified 165 genes, most of whose function has not been studied in vivo. In parallel, we investigated rare variant alleles in 1,929 human exomes from families with unsolved Mendelian disease. Genes that are essential in flies and have multiple human homologs were found to be likely to be associated with human diseases. Merging the human data sets with the fly genes allowed us to identify disease-associated mutations in six families and to provide insights into microcephaly associated with brain dysgenesis. This bidirectional synergism between fly genetics and human genomics facilitates the functional annotation of evolutionarily conserved genes involved in human health. PMID:25259927

  4. A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

    PubMed Central

    Yamamoto, Shinya; Jaiswal, Manish; Charng, Wu-Lin; Gambin, Tomasz; Karaca, Ender; Mirzaa, Ghayda; Wiszniewski, Wojciech; Sandoval, Hector; Haelterman, Nele A.; Xiong, Bo; Zhang, Ke; Bayat, Vafa; David, Gabriela; Li, Tongchao; Chen, Kuchuan; Gala, Upasana; Harel, Tamar; Pehlivan, Davut; Penney, Samantha; Vissers, Lisenka E. L. M.; de Ligt, Joep; Jhangiani, Shalini; Xie, Yajing; Tsang, Stephen H.; Parman, Yesim; Sivaci, Merve; Battaloglu, Esra; Muzny, Donna; Wan, Ying-Wooi; Liu, Zhandong; Lin-Moore, Alexander T.; Clark, Robin D.; Curry, Cynthia J.; Link, Nichole; Schulze, Karen L.; Boerwinkle, Eric; Dobyns, William B.; Allikmets, Rando; Gibbs, Richard A.; Chen, Rui; Lupski, James R.; Wangler, Michael F.; Bellen, Hugo J.

    2014-01-01

    Summary Invertebrate model systems are powerful tools for studying human disease owing to their genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal mutations on the Drosophila X-chromosome to identify genes required for the development, function, and maintenance of the nervous system. We identified 165 genes, most of whose function has not been studied in vivo. In parallel, we investigated rare variant alleles in 1,929 human exomes from families with unsolved Mendelian disease. Genes that are essential in flies and have multiple human homologs were found to be likely to be associated with human diseases. Merging the human datasets with the fly genes allowed us to identify disease-associated mutations in six families and to provide insights into microcephaly associated with brain dysgenesis. This bidirectional synergism between fly genetics and human genomics facilitates the functional annotation of evolutionarily conserved genes involved in human health. PMID:25259927

  5. EEG longitudinal studies in febrile convulsions. Genetic aspects.

    PubMed

    Doose, H; Ritter, K; Völzke, E

    1983-05-01

    It was the purpose of the study to obtain viewpoints on the genetics of febrile convulsions and their relationship to epilepsy by EEG long term follow up. 89 children with febrile convulsions could be followed up to the age of 11 to 13 years (in total 1046 EEG records). The study was concentrated on genetically determined EEG patterns: bilaterally synchronous spikes and waves, photosensitivity and 4-7 cps rhythms. The statistical evaluation was based on standards derived from known strict age dependence of the different patterns. Theta rhythms were found in 54%, spikes and waves of the resting record in 49% and photosensitivity in 42%. In total, genetically determined EEG patterns were found in 81% of the cases which were sufficiently investigated according to given standards. Spikes and waves are strongly age dependent with a maximum at the age of 5-6 years and appear very inconstantly. Theta rhythms and spikes and waves are closely correlated. Spikes and waves are a heterogeneous phenomenon. The type described here must be interpreted as a facultative symptom of the same functional anomaly which forms the basis of 4-7 cps rhythms. The possible pathophysiological basis of the pattern is discussed.--Photosensitivity is interpreted as the symptom of a genetically independent pathogenetic mechanism, which can lead to additive effects by interaction with other genetic abnormalities as well as exogenous factors.--The pathogenesis of febrile convulsions is multifactorial in the strict sense. While the exogenous pathogenetic factors are rather uniform, the genetic predisposition apparently is not. It is based on different genetic anomalies. Each of them is polygenically determined. In the individual case one or different factors can be involved. The genetic predisposition to febrile convulsions is definitely not only polygenic, but of heterogeneous nature. Finally the genetic relationship between febrile convulsions and epilepsy is discussed. PMID:6877532

  6. A systematic study of genetic algorithms with genotype editing

    SciTech Connect

    Huang, C. F.; Rocha, L. M.

    2004-01-01

    This paper presents our systematic study on an RNA-editing computational model of Genetic Algorithms (GA). This model is constructed based on several genetic editing characteristics that are gleaned from the RNA editing system as observed in several organisms. We have expanded the traditional Genetic Algorithm with artificial editing mechanisms as proposed by [15]. The incorporation of editing mechanisms provides a means for artificial agents with genetic descriptions to gain greater phenotypic plasticity, which may be environmentally regulated. The systematic study of this RNA-editing model has shed some light into the evolutionary implications of RNA editing and how to select proper RNA editors for design of more robust GAS. The results will also show promising applications to complex real-world problems. We expect that the framework proposed will both facilitate determining the evolutionary role of RNA editing in biology, and advance the current state of research in Evolutionary Computation.

  7. SNPTrack™ : an integrated bioinformatics system for genetic association studies.

    PubMed

    Xu, Joshua; Kelly, Reagan; Zhou, Guangxu; Turner, Steven A; Ding, Don; Harris, Stephen C; Hong, Huixiao; Fang, Hong; Tong, Weida

    2012-01-01

    A genetic association study is a complicated process that involves collecting phenotypic data, generating genotypic data, analyzing associations between genotypic and phenotypic data, and interpreting genetic biomarkers identified. SNPTrack is an integrated bioinformatics system developed by the US Food and Drug Administration (FDA) to support the review and analysis of pharmacogenetics data resulting from FDA research or submitted by sponsors. The system integrates data management, analysis, and interpretation in a single platform for genetic association studies. Specifically, it stores genotyping data and single-nucleotide polymorphism (SNP) annotations along with study design data in an Oracle database. It also integrates popular genetic analysis tools, such as PLINK and Haploview. SNPTrack provides genetic analysis capabilities and captures analysis results in its database as SNP lists that can be cross-linked for biological interpretation to gene/protein annotations, Gene Ontology, and pathway analysis data. With SNPTrack, users can do the entire stream of bioinformatics jobs for genetic association studies. SNPTrack is freely available to the public at http://www.fda.gov/ScienceResearch/BioinformaticsTools/SNPTrack/default.htm. PMID:23245293

  8. Medical education and research environment in Qatar: a new epoch for translational research in the Middle East

    PubMed Central

    2011-01-01

    Recent advances in medical technology and key discoveries in biomedical research have the potential to improve human health in an unprecedented fashion. As a result, many of the Arab Gulf countries, particularly Qatar are devoting increasing resources toward establishing centers of excellence in biomedical research. However, there are challenges that must be overcome. The low profile of private medical institutions and their negligible endowments in the region are examples of such challenges. Business-type government controlled universities are not the solution for overcoming the challenges facing higher education and research programs in the Middle East. During the last decade, Qatar Foundation for Education, Science and Community Development has attracted six branch campuses of American Institutions of higher learning to the Education City in Qatar, a 2500-acre area, which is rapidly becoming a model of integrating higher education and research in the region. Not-for profit, time-tested education institutions from abroad in public-private partnership with local organizations offer favorable conditions to build robust research programs in the region. Weill Cornell Medical College in Qatar (WCMC-Q) of Cornell University is an example such an institution. It is the first and only medical school in Qatar. WCMC-Q's interwoven education, research and public health based framework lays a sturdy foundation for developing and implementing translational medicine research programs of importance to the State of Qatar and Middle Eastern nations. This approach is yielding positive results. Discoveries from this program should influence public policy in a positive fashion toward reducing premature mortality and morbidity due to diabetes, obesity, heart disease and cancer, examples of health conditions commonly encountered in Qatar. PMID:21272322

  9. A rangewide population genetic study of trumpeter swans

    USGS Publications Warehouse

    Oyler-McCance, S.J.; Ransler, F.A.; Berkman, L.K.; Quinn, T.W.

    2007-01-01

    For management purposes, the range of naturally occurring trumpeter swans (Cygnus buccinator) has been divided into two populations, the Pacific Coast Population (PP) and the Rocky Mountain Population (RMP). Little is known about the distribution of genetic variation across the species' range despite increasing pressure to make difficult management decisions regarding the two populations and flocks within them. To address this issue, we used rapidly evolving genetic markers (mitochondrial DNA sequence and 17 nuclear microsatellite loci) to elucidate the underlying genetic structure of the species. Data from both markers revealed a significant difference between the PP and RMP with the Yukon Territory as a likely area of overlap. Additionally, we found that the two populations have somewhat similar levels of genetic diversity (PP is slightly higher) suggesting that the PP underwent a population bottleneck similar to a well-documented one in the RMP. Both genetic structure and diversity results reveal that the Tri-State flock, a suspected unique, non-migratory flock, is not genetically different from the Canadian flock of the RMP and need not be treated as a unique population from a genetic standpoint. Finally, trumpeter swans appear to have much lower mitochondrial DNA variability than other waterfowl studied thus far which may suggest a previous, species-wide bottleneck. ?? 2007 Springer Science+Business Media, Inc.

  10. Combining genetic association study designs: a GWAS case study.

    PubMed

    Estus, Janice L; Fardo, David W

    2013-01-01

    Genome-wide association studies (GWAS) explore the relationship between genome variability and disease susceptibility with either population- or family-based data. Here, we have evaluated the utility of combining population- and family-based statistical association tests and have proposed a method for reducing the burden of multiple testing. Unrelated singleton and parent-offspring trio cases and controls from the Genetics of Kidneys in Diabetes (GoKinD) study were analyzed for genetic association with diabetic nephropathy (DN) in type 1 diabetics (T1D). The Cochran-Armitage test for trend and the family-based association test were employed using either unrelated cases and controls or trios, respectively. In addition to combining single nucleotide polymorphism (SNP) p-values across these tests via Fisher's method, we employed a novel screening approach to rank SNPs based on conditional power for more efficient testing. Using either the population-based or family-based subset alone predictably limited resolution to detect DN SNPs. For 384,197 SNPs passing quality control (QC), none achieved strict genome-wide significance (1.4 × 10(-7)) using 1171 singletons (577/594 cases/controls) or 1738 pooled singletons and offspring probands (841/897). Similarly, none of the 352,004 SNPs passing QC in 567 family trios (264/303 case/control proband trios) reached genome-wide significance. Testing the top 10 SNPs ranked using aggregated conditional power resulted in two SNPs reaching genome-wide significance, rs11645147 on chromosome 16 (p = 1.74 × 10(-4) < 0.05/10 = 0.005) and rs7866522 on chromosome 9 (p = 0.0033). Efficient usage of mixed designs incorporating both unrelated and family-based data may help to uncover associations otherwise difficult to detect in the presence of massive multiple testing corrections. Capitalizing on the strengths of both types while using screening approaches may be useful especially in light of large-scale, next-generation sequencing and rare

  11. Molecular Genetic Strategies in the Study of Corticohippocampal Circuits.

    PubMed

    Angelakos, Christopher C; Abel, Ted

    2015-07-01

    The first reproductively viable genetically modified mice were created in 1982 by Richard Palmiter and Ralph Brinster (Palmiter RD, Brinster RL, Hammer RE, Trumbauer ME, Rosenfeld MG, Birnberg NC, Evans RM. 1982. Dramatic growth of mice that develop from eggs microinjected with metallothionein-growth hormone fusion genes. Nature 300: 611-615). In the subsequent 30 plus years, numerous ground-breaking technical advancements in genetic manipulation have paved the way for improved spatially and temporally targeted research. Molecular genetic studies have been especially useful for probing the molecules and circuits underlying how organisms learn and remember—one of the most interesting and intensively investigated questions in neuroscience research. Here, we discuss selected genetic tools, focusing on corticohippocampal circuits and their implications for understanding learning and memory. PMID:26134320

  12. Genetically Engineered Mouse Models for Studying Inflammatory Bowel Disease

    PubMed Central

    Mizoguchi, Atsushi; Takeuchi, Takahito; Himuro, Hidetomo; Okada, Toshiyuki; Mizoguchi, Emiko

    2015-01-01

    Inflammatory bowel disease (IBD) is a chronic intestinal inflammatory condition that is mediated by very complex mechanisms controlled by genetic, immune, and environmental factors. More than 74 kinds of genetically engineered mouse strains have been established since 1993 for studying IBD. Although mouse models cannot fully reflect human IBD, they have provided significant contributions for not only understanding the mechanism, but also developing new therapeutic means for IBD. Indeed, 20 kinds of genetically engineered mouse models carry the susceptibility genes identified in human IBD, and the functions of some other IBD susceptibility genes have also been dissected out using mouse models. Cutting-edge technologies such as cell-specific and inducible knockout systems, which were recently employed to mouse IBD models, have further enhanced the ability of investigators to provide important and unexpected rationales for developing new therapeutic strategies for IBD. In this review article, we briefly introduce 74 kinds of genetically engineered mouse models that spontaneously develop intestinal inflammation. PMID:26387641

  13. Deaf Adults' Reasons for Genetic Testing Depend on Cultural Affiliation: Results from a Prospective, Longitudinal Genetic Counseling and Testing Study

    ERIC Educational Resources Information Center

    Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Dutton, Loriel; Tullis, LeeElle; Linden, Joyce; Kobayashi, Yoko; Zhou, Jin; Sinsheimer, Janet S.; Sininger, Yvonne; Grody, Wayne W.; Palmer, Christina G. S.

    2010-01-01

    This article examines the relationship between cultural affiliation and deaf adults' motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf,…

  14. Genetic Counseling for Indigenous Australians: an Exploratory Study from the Perspective of Genetic Health Professionals.

    PubMed

    Kowal, Emma; Gallacher, Lyndon; Macciocca, Ivan; Sahhar, Margaret

    2015-08-01

    Indigenous populations are thought to have particularly low levels of access to genetic health services, and cultural issues may be a contributing factor. This article presents the findings of the first study of genetic health service provision to Indigenous Australians. This qualitative study aimed to identify elements of culturally-competent genetic health service provision in Indigenous Australian contexts. Twelve semi-structured interviews were conducted with genetic counselors and clinical geneticists from around Australia who had delivered services to Indigenous Australians. Participants were asked to describe their experiences and identify any collective cultural needs of Indigenous clients, as well as comment on specific training and resources they had received or used. Interviews were audio-recorded and transcribed with thematic analysis conducted on the data. The findings show that participants were reluctant to generalize the needs of Indigenous peoples. Some participants asserted that Indigenous peoples have needs that differ from the general population, while others felt that there were no collective cultural needs, instead advocating an individualized approach. Being flexible and practical, taking time to build rapport, recognizing different family structures and decision-making processes, as well as socio-economic disadvantage were all identified as important factors in participants' interactions with Indigenous clients. Indigenous support workers and hospital liaison officers were seen as valuable resources for effective service provision. The implications of this study for training and practice are discussed. PMID:25348084

  15. NCI launches largest-ever study of breast cancer genetics in black women

    Cancer.gov

    The Breast Cancer Genetic Study in African-Ancestry Populations initiative is a collaborative research project that will identify genetic factors that may underlie breast cancer disparities. It is the largest study ever to investigate how genetic and biol

  16. Consent for genetic research in the Framingham Heart Study.

    PubMed

    Levy, Daniel; Splansky, Greta Lee; Strand, Nicolle K; Atwood, Larry D; Benjamin, Emelia J; Blease, Susan; Cupples, L Adrienne; D'Agostino, Ralph B; Fox, Caroline S; Kelly-Hayes, Margaret; Koski, Greg; Larson, Martin G; Mutalik, Karen M; Oberacker, Elizabeth; O'Donnell, Christopher J; Sutherland, Patrice; Valentino, Maureen; Vasan, Ramachandran S; Wolf, Philip A; Murabito, Joanne M

    2010-05-01

    Extensive efforts have been aimed at understanding the genetic underpinnings of complex diseases that affect humans. Numerous genome-wide association studies have assessed the association of genes with human disease, including the Framingham Heart Study (FHS), which genotyped 550,000 SNPs in 9,000 participants. The success of such efforts requires high rates of consent by participants, which is dependent on ethical oversight, communications, and trust between research participants and investigators. To study this we calculated percentages of participants who consented to collection of DNA and to various uses of their genetic information in two FHS cohorts between 2002 and 2009. The data included rates of consent for providing a DNA sample, creating an immortalized cell line, conducting research on various genetic conditions including those that might be considered sensitive, and for notifying participants of clinically significant genetic findings were above 95%. Only with regard to granting permission to share DNA or genetic findings with for-profit companies was the consent rate below 95%. We concluded that the FHS has maintained high rates of retention and consent for genetic research that has provided the scientific freedom to establish collaborations and address a broad range of research questions. We speculate that our high rates of consent have been achieved by establishing frequent and open communications with participants that highlight extensive oversight procedures. Our approach to maintaining high consent rates via ethical oversight of genetic research and communication with study participants is summarized in this report and should be of help to other studies engaged in similar types of research. Published 2010 Wiley-Liss, Inc. PMID:20425830

  17. WONOEP appraisal: new genetic approaches to study epilepsy

    PubMed Central

    Rossignol, Elsa; Kobow, Katja; Simonato, Michele; Loeb, Jeffrey A.; Grisar, Thierry; Gilby, Krista L.; Vinet, Jonathan; Kadam, Shilpa D.; Becker, Albert J.

    2014-01-01

    Objective New genetic investigation techniques, including next-generation sequencing, epigenetic profiling, cell lineage mapping, targeted genetic manipulation of specific neuronal cell types, stem cell reprogramming and optogenetic manipulations within epileptic networks are progressively unravelling the mysteries of epileptogenesis and ictogenesis. These techniques have opened new avenues to discover the molecular basis of epileptogenesis and to study the physiological impacts of mutations in epilepsy-associated genes on a multilayer level, from cells to circuits. Methods This manuscript reviews recently published applications of these new genetic technologies in the study of epilepsy, as well as work presented by the authors at the genetic session of the XII Workshop on the Neurobiology of Epilepsy in Quebec, Canada. Results Next-generation sequencing is providing investigators with an unbiased means to assess the molecular causes of sporadic forms of epilepsy and have revealed the complexity and genetic heterogeneity of sporadic epilepsy disorders. To assess the functional impact of mutations in these newly identified genes on specific neuronal cell-types during brain development, new modeling strategies in animals, including conditional genetics in mice and in utero knockdown approaches, are enabling functional validation with exquisite cell-type and temporal specificity. In addition, optogenetics, using cell-type specific Cre recombinase driver lines, is enabling investigators to dissect networks involved in epilepsy. Genetically-encoded cell-type labeling is also providing new means to assess the role of the non-neuronal components of epileptic networks such as glial cells. Furthermore, beyond its role in revealing coding variants involved in epileptogenesis, next-generation sequencing can be used to assess the epigenetic modifications that lead to sustained network hyperexcitability in epilepsy, including methylation changes in gene promoters and non

  18. WONOEP appraisal: new genetic approaches to study epilepsy.

    PubMed

    Rossignol, Elsa; Kobow, Katja; Simonato, Michele; Loeb, Jeffrey A; Grisar, Thierry; Gilby, Krista L; Vinet, Jonathan; Kadam, Shilpa D; Becker, Albert J

    2014-08-01

    New genetic investigation techniques, including next-generation sequencing, epigenetic profiling, cell lineage mapping, targeted genetic manipulation of specific neuronal cell types, stem cell reprogramming, and optogenetic manipulations within epileptic networks are progressively unraveling the mysteries of epileptogenesis and ictogenesis. These techniques have opened new avenues to discover the molecular basis of epileptogenesis and to study the physiologic effects of mutations in epilepsy-associated genes on a multilayer level, from cells to circuits. This manuscript reviews recently published applications of these new genetic technologies in the study of epilepsy, as well as work presented by the authors at the genetic session of the XII Workshop on the Neurobiology of Epilepsy (WONOEP 2013) in Quebec, Canada. Next-generation sequencing is providing investigators with an unbiased means to assess the molecular causes of sporadic forms of epilepsy and has revealed the complexity and genetic heterogeneity of sporadic epilepsy disorders. To assess the functional impact of mutations in these newly identified genes on specific neuronal cell types during brain development, new modeling strategies in animals, including conditional genetics in mice and in utero knock-down approaches, are enabling functional validation with exquisite cell-type and temporal specificity. In addition, optogenetics, using cell-type-specific Cre recombinase driver lines, is enabling investigators to dissect networks involved in epilepsy. In addition, genetically encoded cell-type labeling is providing new means to assess the role of the nonneuronal components of epileptic networks such as glial cells. Furthermore, beyond its role in revealing coding variants involved in epileptogenesis, next-generation sequencing can be used to assess the epigenetic modifications that lead to sustained network hyperexcitability in epilepsy, including methylation changes in gene promoters and noncoding

  19. Genetic disorders in children and young adults: a population study.

    PubMed Central

    Baird, P A; Anderson, T W; Newcombe, H B; Lowry, R B

    1988-01-01

    The data base of an ongoing population-based registry with multiple sources of ascertainment was used to estimate the present population load from genetic disease in more than 1 million consecutive live births. It was found that, before approximately age 25 years, greater than or equal to 53/1,000 live-born individuals can be expected to have diseases with an important genetic component. This total was composed of single-gene disorders (3.6/1,000), consisting of autosomal dominant (1.4/1,000), autosomal recessive (1.7/1,000), and X-linked recessive disorders (0.5/1,000). Chromosomal anomalies accounted for 1.8/1,000, multifactorial disorders (including those present at birth and those of onset before age 25 years) accounted for 46.4/1,000, and cases of genetic etiology in which the precise mechanism was not identified accounted for 1.2/1,000. Previous studies have usually considered all congenital anomalies (ICD 740-759) as part of the genetic load, but only those judged to fit into one of the above categories were included in the present study. Data for congenital anomalies are therefore also presented separately, to facilitate comparison with earlier studies. If all congenital anomalies are considered as part of the genetic load, then greater than or equal to 79/1,000 live-born individuals have been identified as having one or other genetic disorder before approximately age 25 years. These new data represent a better estimate of the genetic load in the population than do previous studies. PMID:3358420

  20. Consortium-Based Genetic Studies of Kawasaki Disease in Korea: Korean Kawasaki Disease Genetics Consortium

    PubMed Central

    Hong, Young Mi; Jang, Gi Young; Yun, Sin Weon; Yu, Jeong Jin; Yoon, Kyung Lim; Lee, Kyung-Yil; Kil, Hong-Rang

    2015-01-01

    In order to perform large-scale genetic studies of Kawasaki disease (KD) in Korea, the Korean Kawasaki Disease Genetics Consortium (KKDGC) was formed in 2008 with 10 hospitals. Since the establishment of KKDGC, there has been a collection of clinical data from a total of 1198 patients, and approximately 5 mL of blood samples per patient (for genomic deoxyribonucleic acid and plasma isolation), using a standard clinical data collection form and a nation-wide networking system for blood sample pick-up. In the clinical risk factor analysis using the collected clinical data of 478 KD patients, it was found that incomplete KD type, intravenous immunoglobulin (IVIG) non-responsiveness, and long febrile days are major risk factors for coronary artery lesions development, whereas low serum albumin concentration is an independent risk factor for IVIG non-responsiveness. In addition, we identified a KD susceptibility locus at 1p31, a coronary artery aneurysm locus (KCNN2 gene), and the causal variant in the C-reactive protein (CRP) promoter region, as determining the increased CRP levels in KD patients, by means of genome-wide association studies. Currently, this consortium is continually collecting more clinical data and genomic samples to identify the clinical and genetic risk factors via a single nucleotide polymorphism chip and exome sequencing, as well as collaborating with several international KD genetics teams. The consortium-based approach for genetic studies of KD in Korea will be a very effective way to understand the unknown etiology and causal mechanism of KD, which may be affected by multiple genes and environmental factors. PMID:26617644

  1. Recruiting American Indian Women for a Genetic Epidemiology Study

    PubMed Central

    Nadeau, M.; Best, L.

    2010-01-01

    Due to previous negative experiences, some American Indian communities are distrustful of research in general and genetic research in particular. The Turtle Mountain Community College was awarded a National Institutes of Health (NIH) grant with 3 aims: (1) to study possible genetic influences on pre-eclampsia, (2) to encourage tribal college students to consider biomedical careers and (3) to develop the local research infrastructure. Retrospectively identified case (91) and control (188) participants were recruited into Phase I over a 3-year period and additional participants (71) were concurrently recruited from a prenatal clinic into a prospective case/control study, Phase II. This paper describes some of the challenges and solutions we encountered in the process of recruiting American Indian participants into a genetic epidemiologic study. PMID:20616521

  2. Does Childhood Anxiety Evoke Maternal Control? A Genetically Informed Study

    ERIC Educational Resources Information Center

    Eley, Thalia C.; Napolitano, Maria; Lau, Jennifer Y. F.; Gregory, Alice M.

    2010-01-01

    Background: Despite theoretical and empirical support for an association between maternal control and child anxiety, few studies have examined the origins of this association. Furthermore, none use observer-ratings of maternal control within a genetically informative design. This study addressed three questions: 1) do children who experience…

  3. Physician and medical student perceptions and expectations of the pediatric clerkship: a Qatar experience

    PubMed Central

    Hendaus, Mohamed A; Khan, Shabina; Osman, Samar; Alsamman, Yasser; Khanna, Tushar; Alhammadi, Ahmed H

    2016-01-01

    Background The average number of clerkship weeks required for the pediatric core rotation by the US medical schools is significantly lower than those required for internal medicine or general surgery. Objective The objective behind conducting this survey study was to explore the perceptions and expectations of medical students and pediatric physicians about the third-year pediatric clerkship. Methods An anonymous survey questionnaire was distributed to all general pediatric physicians at Hamad Medical Corporation and to students from Weill Cornell Medical College-Qatar. Results Feedback was obtained from seven attending pediatricians (100% response rate), eight academic pediatric fellow physicians (100% response rate), 36 pediatric resident physicians (60% response rate), and 36 medical students (60% response rate). Qualitative and quantitative data values were expressed as frequencies along with percentages and mean ± standard deviation and median and range. A P-value <0.05 from a 2-tailed t-test was considered to be statistically significant. Participants from both sides agreed that medical students receive <4 hours per week of teaching, clinical rounds is the best environment for teaching, adequate bedside is provided, and that there is no adequate time for both groups to get acquainted to each other. On the other hand, respondents disagreed on the following topics: almost two-thirds of medical students perceive postgraduate year 1 and 2 pediatric residents as the best teachers, compared to 29.4% of physicians; 3 weeks of inpatient pediatric clerkship is enough for learning; the inpatient pediatric environment is safe and friendly; adequate feedback is provided by physicians to students; medical students have accessibility to physicians; students are encouraged to practice evidence-based medicine; and students get adequate exposure to multi-professional teams. Conclusion Assigning devoted physicians for education, providing proper job description or definition

  4. Stoppage Rules and Genetic Studies of Autism.

    ERIC Educational Resources Information Center

    Jones, Marshall B.; Szatmari, Peter

    1988-01-01

    "Stoppage rules" (responses of parents to the question of having more children when a child has been born seriously handicapped) are discussed. The paper shows that application of stoppage rules to a recent study of 46 families shows that the segregation ratio was underestimated in the original report. (Author/DB)

  5. Genetic and environmental influences on disordered eating: An adoption study.

    PubMed

    Klump, Kelly L; Suisman, Jessica L; Burt, S Alexandra; McGue, Matt; Iacono, William G

    2009-11-01

    Twin studies indicate significant genetic, but little shared environmental, influences on eating disorders. However, critics argue that study limitations constrain the conclusions that can be drawn. Adoption studies avoid many of these limitations, but to date, no adoption studies of eating pathology have been conducted. The current study was the first adoption study to examine genetic/environmental effects for disordered eating. Participants included 123 adopted and 56 biological female sibling pairs. Disordered eating (i.e., overall eating pathology, body dissatisfaction, weight preoccupation, binge eating) was assessed with the Minnesota Eating Behaviors Survey (Klump, McGue, & Iacono, 2000; von Ranson, Klump, Iacono, & McGue, 2005). Biometric model fitting indicated significant genetic influences (59%-82%) on all forms of disordered eating, with nonshared environmental factors accounting for the remaining variance. Shared environmental factors did not contribute significantly to any disordered eating symptom. Our findings bolster those from twin studies and provide critical evidence of significant genetic effects on disordered eating symptoms. PMID:19899849

  6. Why Is Studying the Genetics of Intelligence So Controversial?

    PubMed

    Tabery, James

    2015-01-01

    From the very beginning, studies of the nature and nurture of intelligence have been closely associated with an interest in intervening, and those interventions have been surrounded by controversy. The nature of those controversies has not always been the same, however. Since the mid-nineteenth century, when Francis Galton imagined a science that would assess the extent to which a trait like "genius" was due to nature or due to nurture, science and technology have changed dramatically, and so have the interventions that have been envisioned in light of those developments. A scientist today can search for particular stretches of DNA and assess whether differences in those stretches are associated with differences in a human trait of interest; a genetic counselor today can genetically test an individual (be it an embryo, fetus, newborn, child, or adult) and provide information about what that genetic result means, allowing for interventions that can range from terminating a pregnancy to prescribing chemotherapy. So when one asks a question like, "Why is studying the genetics of intelligence controversial?," it is important to realize up front that the answer will be, "It can be controversial for a variety of different reasons, and those reasons have evolved over time." The purpose of this essay is to provide a survey of the controversies that surround genetic studies of intelligence. With the survey in place, I will then draw out several lessons both for scientists who study the genetics of intelligence as well as for science studies scholars (bioethicists, philosophers, historians, sociologists) who reflect and comment on the controversies surrounding that research. PMID:26413953

  7. Reverse Genetics System for Studying Human Rhinovirus Infections

    PubMed Central

    Lee, Wai-Ming; Wang, Wensheng; Bochkov, Yury A; Lee, Iris

    2015-01-01

    SUMMARY Human rhinovirus (HRV) contains a 7.2 Kb messenger-sense RNA genome which is the template for reproducing progeny viruses after it enters the cytoplasm of a host cell. Reverse genetics refers to the regeneration of progeny viruses from an artificial cDNA copy of the RNA genome of an RNA virus. It has been a powerful molecular genetic tool for studying HRV and other RNA viruses because the artificial DNA stage makes it practical to introduce specific mutations into the viral RNA genome. This chapter uses HRV-16 as the model virus to illustrate the strategy and the methods for constructing and cloning the artificial cDNA copy of a full-length HRV genome, identifying the infectious cDNA clone isolates, and selecting the most vigorous cDNA clone isolate to serve as the standard parental clone for future molecular genetic study of the virus. PMID:25261313

  8. Sequencing studies in human genetics: design and interpretation

    PubMed Central

    Goldstein, David B.; Allen, Andrew; Keebler, Jonathan; Margulies, Elliott H.; Petrou, Steven; Petrovski, Slavé; Sunyaev, Shamil

    2014-01-01

    Next-gene ration sequencing is becoming the primary discovery tool in human genetics. There have been many clear successes in identifying genes that are responsible for Mendelian diseases, and sequencing approaches are now poised to identify the mutations that cause undiagnosed childhood genetic diseases and those that predispose individuals to more common complex diseases. There are, however, growing concerns that the complexity and magnitude of complete sequence data could lead to an explosion of weakly justified claims of association between genetic variants and disease. Here, we provide an overview of the basic workflow in next-generation sequencing studies and emphasize, where possible, measures and considerations that facilitate accurate inferences from human sequencing studies. PMID:23752795

  9. International note: exploring differences in native and immigrant adolescents' mathematics achievement and dispositions towards mathematics in Qatar.

    PubMed

    Areepattamannil, Shaljan; Melkonian, Michael; Khine, Myint Swe

    2015-04-01

    The burgeoning immigrant population in major immigrant-receiving countries in North America and Europe has necessitated researchers and policymakers in these countries to examine the academic success of children of immigration and the factors contributing to their academic success. However, there is sparse research on the academic trajectories of children of immigration in other continents, such as Asia. Hence, the purpose of the present study was to examine first- and second-generation immigrant adolescents' mathematics achievement and dispositions towards mathematics in comparison to their native peers in one of the Middle Eastern countries in Asia, Qatar. The results of the study indicated that both first- and second-generation immigrant adolescents tended to have higher mathematics achievement, intrinsic motivation to learn mathematics, instrumental motivation to learn mathematics, mathematics self-efficacy, and mathematics self-concept than did their native counterparts. Moreover, immigrant adolescents tended to have lower mathematics anxiety than did their native peers. The study also revealed significant differences between first- and second-generation immigrant adolescents with respect to their mathematics achievement and dispositions towards mathematics. PMID:25600511

  10. Genetic studies of Crohn's disease: Past, present and future

    PubMed Central

    Liu, Jimmy Z.; Anderson, Carl A.

    2014-01-01

    The exact aetiology of Crohn's disease is unknown, though it is clear from early epidemiological studies that a combination of genetic and environmental risk factors contributes to an individual's disease susceptibility. Here, we review the history of gene-mapping studies of Crohn's disease, from the linkage-based studies that first implicated the NOD2 locus, through to modern-day genome-wide association studies that have discovered over 140 loci associated with Crohn's disease and yielded novel insights into the biological pathways underlying pathogenesis. We describe on-going and future gene-mapping studies that utilise next generation sequencing technology to pinpoint causal variants and identify rare genetic variation underlying Crohn's disease risk. We comment on the utility of genetic markers for predicting an individual's disease risk and discuss their potential for identifying novel drug targets and influencing disease management. Finally, we describe how these studies have shaped and continue to shape our understanding of the genetic architecture of Crohn's disease. PMID:24913378

  11. [Studies on genetic relationship of Dioscorea].

    PubMed

    Huang, Han-han; Li, Xia; Gao, Wen-yuan; Xiao, Pei-gen

    2015-09-01

    Based on the results of the morphologic studies on genus Dioscorea, the paper summarized the entire chemical constituent that isolated from this genus and analyzed it with the methods of chemotaxonomy. The rules of the chemical constituent and pharmacodynamic effects were analyzed. Seventeen species which belong to Sect. Stenophora Uline of Dioscorea contain steroidal sapogenin. Other species with different main components such as polysaccharide and tannin have have different effects. This chemotaxonomic view point will conduce to establish a phylogeny of the genus Dioscorea. PMID:26978991

  12. Potential Genetic Risk Factors for Chronic TMD: Genetic Associations from the OPPERA Case Control Study

    PubMed Central

    Smith, Shad B.; Maixner, Dylan; Greenspan, Joel; Dubner, Ron; Fillingim, Roger; Ohrbach, Richard; Knott, Charles; Slade, Gary; Bair, Eric; Gibson, Dustin G.; Zaykin, Dmitri V.; Weir, Bruce; Maixner, William; Diatchenko, Luda

    2011-01-01

    Genetic factors play a role in the etiology of persistent pain conditions, putatively by modulating underlying processes such as nociceptive sensitivity, psychological well-being, inflammation, and autonomic response. However, to date, only a few genes have been associated with temporomandibular disorders (TMD). This study evaluated 358 genes involved in pain processes, comparing allelic frequencies between 166 cases with chronic TMD and 1442 controls enrolled in the OPPERA (Orofacial Pain: Prospective Evaluation and Risk Assessment) study cooperative agreement. To enhance statistical power, 182 TMD cases and 170 controls from a similar study were included in the analysis. Genotyping was performed using the Pain Research Panel, an Affymetrix gene chip representing 3295 single nucleotide polymorphisms, including ancestry-informative markers that were used to adjust for population stratification. Adjusted associations between genetic markers and TMD case status were evaluated using logistic regression. The OPPERA findings provided evidence supporting previously-reported associations between TMD and two genes: HTR2A and COMT. Other genes were revealed as potential new genetic risk factors for TMD, including NR3C1, CAMK4, CHRM2, IFRD1, and GRK5. While these findings need to be replicated in independent cohorts, the genes potentially represent important markers of risk for TMD and they identify potential targets for therapeutic intervention. PMID:22074755

  13. Toxoplasma gondii Seropositivity and Co-Infection with TORCH Pathogens in High-Risk Patients from Qatar

    PubMed Central

    Abu-Madi, Marawan A.; Behnke, Jerzy M.; Dabritz, Haydee A.

    2010-01-01

    Testing of patients who are deemed to be at high risk for TORCH pathogens, e.g., pregnant women, their fetuses, neonates, and acquired immunodeficiency syndrome (AIDS) patients, is important so that specific treatment can be initiated. This study included 1,857 such patients between 2005 and 2008. Logistic regression was used to evaluate factors associated with Toxoplasma gondii seropositivity. Among 823 women of childbearing age, 35.1% and 5.2% tested positive for T. gondii IgG and IgM, respectively. Three infants ≤ 6 months of age (0.8% of 353) were congenitally infected. Factors associated with T. gondii IgG seropositivity included older age, East Mediterranean or African nationality, positive cytomegalovirus (CMV) and herpes simplex virus (HSV)-1 serostatus, and negative rubella IgG results. The decreasing prevalence of IgM antibodies between 2005 and 2008 suggested that exposure to T. gondii from food or environmental sources declined over this period in Qatar. Population-based studies of newborns would be helpful to accurately estimate incidence of congenital toxoplasmosis. PMID:20348511

  14. Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Maintaining genetic variation in wild populations of Arctic organisms is fundamental to the long-term persistence of high latitude biodiversity. Variability is important because it provides options for species to respond to changing environmental conditions and novel challenges such as emerging path...

  15. Zebrafish: A Model for the Study of Addiction Genetics

    PubMed Central

    Klee, Eric W; Schneider, Henning; Clark, Karl; Cousin, Margot; Ebbert, Jon; Hooten, Michael; Karpyak, Victor; Warner, David; Ekker, Stephen

    2013-01-01

    Drug abuse and dependence are multifaceted disorders with complex genetic underpinnings. Identifying specific genetic correlates is challenging and may be more readily accomplished by defining endophenotypes specific for addictive disorders. Symptoms and syndromes, including acute drug response, consumption, preference, and withdrawal, are potential endophenotypes characterizing addiction that have been investigated using model organisms. We present a review of major genes involved in serotonergic, dopaminergic, GABAergic, and adrenoreceptor signaling that are considered to be directly involved in nicotine, opioid, cannabinoid, and ethanol use and dependence. The zebrafish genome encodes likely homologs of the vast majority of these loci. We also review the known expression patterns of these genes in zebrafish. The information presented in this review provides support for the use of zebrafish as a viable model for studying genetic factors related to drug addiction. Expansion of investigations into drug response using model organisms holds the potential to advance our understanding of drug response and addiction in humans. PMID:22207143

  16. Applications of Molecular Genetics to the Study of Asthma.

    PubMed

    Sanz-Lozano, Catalina S; García-Solaesa, Virginia; Davila, Ignacio; Isidoro-García, María

    2016-01-01

    Asthma is a multifactorial disease. This fact, associated to the diversity of asthma phenotypes, has made difficult to obtain a clear pattern of inheritance. With the huge development of molecular genetics technologies, candidate gene studies are giving way to different types of studies from the genomic point of view.These approaches are allowing the identification of several genes associated with asthma. However, in these studies, there are some conflicting results between different populations and there is still a lack of knowledge about the actual influence of the gene variants. Some confounding factors are, among others, the inappropriate sample size, population stratification, differences in the classification of the phenotypes, or inadequate coverage of the genes.To confirm the real effect of the reported associations, it is necessary to consider both the genetic and environmental factors and perform functional studies that explain the molecular mechanisms mediating between the emergence of gene variants and the development of the disease.The development of experimental techniques opens a new horizon that allows the identification of major genetic factors of susceptibility to asthma. The resulting classification of the population groups based on their genetic characteristics, will allow the application of specific and highly efficient treatments. PMID:27300527

  17. GESDB: a platform of simulation resources for genetic epidemiology studies.

    PubMed

    Yao, Po-Ju; Chung, Ren-Hua

    2016-01-01

    Computer simulations are routinely conducted to evaluate new statistical methods, to compare the properties among different methods, and to mimic the observed data in genetic epidemiology studies. Conducting simulation studies can become a complicated task as several challenges can occur, such as the selection of an appropriate simulation tool and the specification of parameters in the simulation model. Although abundant simulated data have been generated for human genetic research, currently there is no public database designed specifically as a repository for these simulated data. With the lack of such a database, for similar studies, similar simulations may have been repeated, which resulted in redundant work. Thus, we created an online platform, the Genetic Epidemiology Simulation Database (GESDB), for simulation data sharing and discussion of simulation techniques for genetic epidemiology studies. GESDB consists of a database for storing simulation scripts, simulated data and documentation from published articles as well as a discussion forum, which provides a platform for discussion of the simulated data and exchanging simulation ideas. Moreover, summary statistics such as the simulation tools that are most commonly used and datasets that are most frequently downloaded are provided. The statistics will be informative for researchers to choose an appropriate simulation tool or select a common dataset for method comparisons. GESDB can be accessed at http://gesdb.nhri.org.twDatabase URL: http://gesdb.nhri.org.tw. PMID:27242038

  18. Involving study populations in the review of genetic research.

    PubMed

    Sharp, R R; Foster, M W

    2000-01-01

    Genetic research can present risks to all members of a study population, not just those who choose to participate in research. The authors suggest that community-based reviews of research protocols can help identify and minimize such research-related risks. PMID:11067631

  19. GENETICAL METABOLOMICS OF FLAVONOID BIOSYNTHESIS IN POPULUS: A CASE STUDY

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Genetical metabolomics (metabolite profiling combined with quantitative trait locus [QTL] analysis) is proposed as a new tool to identify loci that control metabolite abundances. This concept was evaluated in a case study with the model tree Populus. By using HPLC, the peak abundances were analyzed ...

  20. GESDB: a platform of simulation resources for genetic epidemiology studies

    PubMed Central

    Yao, Po-Ju; Chung, Ren-Hua

    2016-01-01

    Computer simulations are routinely conducted to evaluate new statistical methods, to compare the properties among different methods, and to mimic the observed data in genetic epidemiology studies. Conducting simulation studies can become a complicated task as several challenges can occur, such as the selection of an appropriate simulation tool and the specification of parameters in the simulation model. Although abundant simulated data have been generated for human genetic research, currently there is no public database designed specifically as a repository for these simulated data. With the lack of such a database, for similar studies, similar simulations may have been repeated, which resulted in redundant work. Thus, we created an online platform, the Genetic Epidemiology Simulation Database (GESDB), for simulation data sharing and discussion of simulation techniques for genetic epidemiology studies. GESDB consists of a database for storing simulation scripts, simulated data and documentation from published articles as well as a discussion forum, which provides a platform for discussion of the simulated data and exchanging simulation ideas. Moreover, summary statistics such as the simulation tools that are most commonly used and datasets that are most frequently downloaded are provided. The statistics will be informative for researchers to choose an appropriate simulation tool or select a common dataset for method comparisons. GESDB can be accessed at http://gesdb.nhri.org.tw. Database URL: http://gesdb.nhri.org.tw PMID:27242038

  1. Hypoxia in the central Arabian Gulf Exclusive Economic Zone (EEZ) of Qatar during summer season

    NASA Astrophysics Data System (ADS)

    Al-Ansari, Ebrahim M. A. S.; Rowe, G.; Abdel-Moati, M. A. R.; Yigiterhan, O.; Al-Maslamani, I.; Al-Yafei, M. A.; Al-Shaikh, I.; Upstill-Goddard, R.

    2015-06-01

    One of the most fascinating and unexpected discoveries during the Qatar University Marine Expeditions to the marine Exclusive Economic Zone (EEZ) of Qatar in 2000-2001, was the detection of a hypoxic water layer in the central region of the Arabian Gulf in waters deeper than 50 m. Hypoxia was defined as the region where the concentration of dissolved oxygen was less than 2 mg L-1. This article presents the discovery of hypoxia in the Arabian Gulf, based on samples collected (mainly during evening or night time) from vertical profiles along transects of the EEZ of Qatar and analyzed for physico-chemical properties, nutrients and chlorophyll-a. Hypoxia occurred in the summer months caused by an interaction between physical stratification of the water column that prevents oxygen replenishment, and biological respiration that consumes oxygen. Strong south-westerly winds (the SW monsoon) from June to September drive the relatively low-salinity nutrient-rich surface water from the Arabian Sea/Arabian Gulf (Sea of Oman) through the Strait of Hormuz into the central-Arabian Gulf, and this surface current penetration fertilizes the deep central-Arabian Gulf during the summer period. A strong seasonal pycnocline is formed between deeper waters at an ambient temperature of 20.9 °C and surface waters at 31.9 °C. This prevents the mixing of supersaturated O2 (>100-130%) water from the upper layer that would otherwise raise concentrations of dissolved oxygen below the thermocline, thus resulting in deep water hypoxia, i.e. dissolved oxygen levels of less than 0.86 ml L-1 at 17.3% saturation. These are the lowest values ever recorded for the Arabian Gulf. The calculated area of hypoxia is around 7220 square kilometers, and occurs in a layer about ≥15 m thick above the sea floor which extends toward the deep part of the Qatar Exclusive Economic Zone (EEZ). The biological consequences of this hypoxia on the sea floor are yet to be investigated.

  2. Changing trends in intestinal parasitic infections among long-term-residents and settled immigrants in Qatar

    PubMed Central

    2010-01-01

    Background The rapid socio-economic development in Qatar in the last two decades has encouraged a mass influx of immigrant workers, the majority of whom originate from countries with low socio-economic levels, inadequate medical care and many are known to carry patent intestinal helminth and protozoan infections on arrival in Qatar. Some eventually acquire residency status but little is known about whether they continue to harbour infections. Methods We examined 9208 hospital records of stool samples that had been analysed for the presence of intestinal helminth and protozoan ova/cysts, over the period 2005-2008, of subjects from 28 nationalities, but resident in Qatar and therefore not recent arrivals in the country. Results Overall 10.2% of subjects were infected with at least one species, 2.6% with helminths and 8.0% with protozoan species. Although hookworms, Ascaris lumbricoides, Trichuris trichiura and Hymenolepis nana were observed, the majority of helminth infections (69%) were caused by hookworms, and these were largely aggregated among 20.0-39.9 year-old male subjects from Nepal. The remaining cases of helminth infection were mostly among Asian immigrants. Protozoan infections were more uniformly spread across immigrants from different regions when prevalence was calculated on combined data, but this disguised three quite contrasting underlying patterns for 3 taxa of intestinal protozoa. Blastocystis hominis, Giardia duodenalis and non-pathogenic amoebae were all acquired in childhood, but whereas prevalence of B. hominis rose to a plateau and then even further among the elderly, prevalence of G. duodenalis fell markedly in children aged 10 and older, and stayed low (< 2%) gradually falling even further in the elderly. In contrast the prevalence of non-pathogenic amoebae (Entamoeba coli, E. hartmanni, Endolimax nana and Iodamoeba buetschlii) peaked in the 30.0-39.9 age group and only then dropped to very low values among the oldest subjects examined. A

  3. Structural and physical properties of the dust particles in Qatar and their influence on the PV panel performance.

    PubMed

    Aïssa, Brahim; Isaifan, Rima J; Madhavan, Vinod E; Abdallah, Amir A

    2016-01-01

    Recently, extensive R&D has been conducted, both by industry and academia, to significantly raise the conversion efficiency of commercial photovoltaic (PV) modules. The installation of PV systems aimed at optimizing solar energy yield is primarily dictated by its geographic location and installation design to maximize solar exposure. However, even when these characteristics have been addressed appropriately, there are other factors that adversely affect the performance of PV systems, namely the temperature-induced voltage decrease leading to a PV power loss, and the dust accumulation (soiling). The latter is the lesser acknowledged factor that significantly influences the performance of PV installations especially in the Middle East region. In this paper we report on the investigation of the structural and physical properties of the desert-dust particles in the State of Qatar. The dust particles were collected directly from the PV panels installed in desert environment and characterized by different techniques, including scanning electron, optical and atomic force microscopies, X-ray diffraction, energy-dispersive, UV-Vis, micro-Raman and Fourier transform infrared spectroscopy. The vibrating sample magnetometry analyses were also conducted to study the magnetic properties of the dust particles. The influence of the dust accumulation on the PV panel performance was also presented and discussed. PMID:27526667

  4. Structural and physical properties of the dust particles in Qatar and their influence on the PV panel performance

    PubMed Central

    Aïssa, Brahim; Isaifan, Rima J.; Madhavan, Vinod E.; Abdallah, Amir A.

    2016-01-01

    Recently, extensive R&D has been conducted, both by industry and academia, to significantly raise the conversion efficiency of commercial photovoltaic (PV) modules. The installation of PV systems aimed at optimizing solar energy yield is primarily dictated by its geographic location and installation design to maximize solar exposure. However, even when these characteristics have been addressed appropriately, there are other factors that adversely affect the performance of PV systems, namely the temperature-induced voltage decrease leading to a PV power loss, and the dust accumulation (soiling). The latter is the lesser acknowledged factor that significantly influences the performance of PV installations especially in the Middle East region. In this paper we report on the investigation of the structural and physical properties of the desert-dust particles in the State of Qatar. The dust particles were collected directly from the PV panels installed in desert environment and characterized by different techniques, including scanning electron, optical and atomic force microscopies, X-ray diffraction, energy-dispersive, UV-Vis, micro-Raman and Fourier transform infrared spectroscopy. The vibrating sample magnetometry analyses were also conducted to study the magnetic properties of the dust particles. The influence of the dust accumulation on the PV panel performance was also presented and discussed. PMID:27526667

  5. Study design in genetic epidemiology: theoretical and practical considerations.

    PubMed

    Whittemore, A S; Nelson, L M

    1999-01-01

    Recent advances in molecular genetics have created new opportunities and challenges for genetic epidemiologists. Here we review some of the issues that arise when designing a study involving the genetic epidemiology of chronic diseases of late onset, such as cancer. We discuss two considerations that influence the choice of design. The first consideration is the study's goals. We describe the goals of identifying new susceptibility genes for a disease, of estimating important characteristics of known genes, and of learning how to prevent the disease in the genetically susceptible. We indicate how these goals affect the choice of design and present some guidelines for choosing designs that effectively address them. The second consideration is the set of practical constraints to successfully conducting the research. These contraints include problems of potential selection bias, reduced response rates, problems particular to family registries, problems particular to the cultures of various ethnic groups, and ethical issues. We indicate how these constraints affect the choice of design and discuss ways to deal with them. PMID:10854488

  6. Human genetic mapping studies using single sperm typing

    SciTech Connect

    Hubert, R.S.

    1993-01-01

    Sperm typing is a powerful technique that uses the polymerase chain reaction (PCR) to analyze DNA sequences within single sperm cells in order to construct genetic maps. This methodology was used to estimate the recombination fraction between D3S2 and D3S2 which was found to be 0.28 (95% CI = 0.20-0.36). Pedigree analysis was unable to determine genetic distance between these two markers due to their low informativeness. We also showed that dinucleotide and tetranucleotide repeat polymorphisms can be analyzed in single cells without using radioactivity or denaturing gels. This provides a rich new source of DANA polymorphisms for genetic mapping by sperm typing. In addition, an approach that uses the sperm typing methodology is described that can define the physical boundaries of meiotic recombination hotspots. The hotspot at 4p16.3 near the Huntington disease gene was localized to an interval between D4S10 and D4S126. These studies demonstrated the usefulness of sperm typing as a tool for the study of human genetic.

  7. Matching Strategies for Genetic Association Studies in Structured Populations

    PubMed Central

    Hinds, David A.; Stokowski, Renee P.; Patil, Nila; Konvicka, Karel; Kershenobich, David; Cox, David R.; Ballinger, Dennis G.

    2004-01-01

    Association studies in populations that are genetically heterogeneous can yield large numbers of spurious associations if population subgroups are unequally represented among cases and controls. This problem is particularly acute for studies involving pooled genotyping of very large numbers of single-nucleotide–polymorphism (SNP) markers, because most methods for analysis of association in structured populations require individual genotyping data. In this study, we present several strategies for matching case and control pools to have similar genetic compositions, based on ancestry information inferred from genotype data for ∼300 SNPs tiled on an oligonucleotide-based genotyping array. We also discuss methods for measuring the impact of population stratification on an association study. Results for an admixed population and a phenotype strongly confounded with ancestry show that these simple matching strategies can effectively mitigate the impact of population stratification. PMID:14740319

  8. The OCD collaborative genetics study: methods and sample description.

    PubMed

    Samuels, Jack F; Riddle, Mark A; Greenberg, Benjamin D; Fyer, Abby J; McCracken, James T; Rauch, Scott L; Murphy, Dennis L; Grados, Marco A; Pinto, Anthony; Knowles, James A; Piacentini, John; Cannistraro, Paul A; Cullen, Bernadette; Bienvenu, O Joseph; Rasmussen, Steven A; Pauls, David L; Willour, Virginia L; Shugart, Yin Y; Liang, Kung-yee; Hoehn-Saric, Rudolf; Nestadt, Gerald

    2006-04-01

    Results from twin and family studies suggest that obsessive-compulsive disorder (OCD) may be transmitted in families but, to date, genes for the disorder have not been identified. The OCD Collaborative Genetics Study (OCGS) is a six-site collaborative genetic linkage study of OCD. Specimens and blinded clinical data will be made available through the National Institute of Mental Health (NIMH) cell repository. In this initial report, we describe the methods of the study and present clinical characteristics of affected individuals for researchers interested in this valuable resource for genetic studies of OCD. The project clinically evaluated and collected blood specimens from 238 families containing 299 OCD-affected sibling pairs and their parents, and additional affected relative pairs, for a genome-wide linkage study. Of the 999 individuals interviewed to date, 624 were diagnosed with "definite" OCD. The mean age of subjects was 36 years (range 7-95). The majority of affected individuals (66%) were female. The mean age at onset of obsessive-compulsive symptoms was 9.5 years. Specific mood disorders, anxiety disorders, eating disorders, and skin picking were more prevalent in female cases, whereas tics, Tourette disorder, and alcohol dependence were more prevalent in male cases. Compared to "definite" cases of OCD, "probable" cases (n = 82) had, on average, later age at onset of obsessive-compulsive symptoms, lower severity score, and fewer numbers of different categories of obsessions and compulsions, and they were less likely to have received treatment for their symptoms. PMID:16511842

  9. The Qatar genome: a population-specific tool for precision medicine in the Middle East

    PubMed Central

    Fakhro, Khalid A; Staudt, Michelle R; Ramstetter, Monica Denise; Robay, Amal; Malek, Joel A; Badii, Ramin; Al-Marri, Ajayeb Al-Nabet; Khalil, Charbel Abi; Al-Shakaki, Alya; Chidiac, Omar; Stadler, Dora; Zirie, Mahmoud; Jayyousi, Amin; Salit, Jacqueline; Mezey, Jason G; Crystal, Ronald G; Rodriguez-Flores, Juan L

    2016-01-01

    Reaching the full potential of precision medicine depends on the quality of personalized genome interpretation. In order to facilitate precision medicine in regions of the Middle East and North Africa (MENA), a population-specific genome for the indigenous Arab population of Qatar (QTRG) was constructed by incorporating allele frequency data from sequencing of 1,161 Qataris, representing 0.4% of the population. A total of 20.9 million single nucleotide polymorphisms (SNPs) and 3.1 million indels were observed in Qatar, including an average of 1.79% novel variants per individual genome. Replacement of the GRCh37 standard reference with QTRG in a best practices genome analysis workflow resulted in an average of 7* deeper coverage depth (an improvement of 23%) and 756,671 fewer variants on average, a reduction of 16% that is attributed to common Qatari alleles being present in QTRG. The benefit for using QTRG varies across ancestries, a factor that should be taken into consideration when selecting an appropriate reference for analysis. PMID:27408750

  10. A Course-based Cross-Cultural Interaction among Pharmacy Students in Qatar and Canada

    PubMed Central

    Taylor, Jeff; Khalifa, Sherief I.; Jorgenson, Derek

    2015-01-01

    Objective. To develop, implement, and evaluate a course-based, cross-cultural student interaction using real-time videoconferencing between universities in Canada and Qatar. Design. A professional skills simulation practice session on smoking cessation was run for students in Qatar (n=22) and Canada (n=22). Students role played cases in small group situations and then interacted with colleagues from the other country regarding culturally challenging situations and communication strategies. Assessment. Students were assessed on analytical content and communication skills through faculty member and peer evaluation. Cultural competency outcomes were assessed using a postsession survey. Overall, 92.3% of respondents agreed that learning was enhanced through the cross-cultural exchange, and 94.9% agreed that insight was gained into the health-related issues and needs of people from another culture. Conclusion. A course-based, cross-cultural interaction was an effective method to incorporate cultural competency principles into student learning. Future initiatives should increase direct student interaction and focus on culturally sensitive topics. PMID:25861107

  11. Intestinal helminths of feral cat populations from urban and suburban districts of Qatar.

    PubMed

    Abu-Madi, Marawan A; Behnke, Jerzy M; Prabhaker, K S; Al-Ibrahim, Roda; Lewis, John W

    2010-03-25

    A survey of the helminths of 658 adult cats from feral urban and suburban populations in Qatar was conducted across all months in 2006 and 2007. Six species of helminths were identified, comprising two cestodes (Taenia taeniaeformis [73.6%] and Diplopylidium acanthotetra [47.1%]) and four nematodes (Ancylostoma tubaeforme [14.7%], Physaloptera praeputialis [5.2%], Toxocara cati [0.8%] and Toxascaris leonina [0.2%]), and 83% of cats were infected with at least one of these. The average number of species harboured was 1.4 and the average worm burden was 55.8 worms/cat. The vast majority of worms (97.6%) were cestodes, nematodes being relatively rare. Prevalence and abundance of infections were analyzed, taking into consideration four factors: year (2006 and 2007), site (urban and suburban), season (winter and summer) and sex of the host. Analyses revealed marked year effects, female host bias in some species and interactions involving combination of factors, but especially sex and season of the year. The results indicate that whilst the majority of adult feral cats in Qatar carry helminth infections, infections are variable between years and subject to annual changes that may reflect climatic and other environmental changes in the rapidly developing city of Doha and its suburban surroundings. Only two species have the potential to infect humans and both were rare among the sampled cats (A. tubaeforme and T. cati). PMID:20031329

  12. D Model of AL Zubarah Fortress in Qatar - Terrestrial Laser Scanning VS. Dense Image Matching

    NASA Astrophysics Data System (ADS)

    Kersten, T.; Mechelke, K.; Maziull, L.

    2015-02-01

    In September 2011 the fortress Al Zubarah, built in 1938 as a typical Arabic fortress and restored in 1987 as a museum, was recorded by the HafenCity University Hamburg using terrestrial laser scanning with the IMAGER 5006h and digital photogrammetry for the Qatar Museum Authority within the framework of the Qatar Islamic Archaeology and Heritage Project. One goal of the object recording was to provide detailed 2D/3D documentation of the fortress. This was used to complete specific detailed restoration work in the recent years. From the registered laser scanning point clouds several cuttings and 2D plans were generated as well as a 3D surface model by triangle meshing. Additionally, point clouds and surface models were automatically generated from digital imagery from a Nikon D70 using the open-source software Bundler/PMVS2, free software VisualSFM, Autodesk Web Service 123D Catch beta, and low-cost software Agisoft PhotoScan. These outputs were compared with the results from terrestrial laser scanning. The point clouds and surface models derived from imagery could not achieve the same quality of geometrical accuracy as laser scanning (i.e. 1-2 cm).

  13. A Global Population Genetic Study of Pantala flavescens

    PubMed Central

    Troast, Daniel; Suhling, Frank; Jinguji, Hiroshi; Sahlén, Göran; Ware, Jessica

    2016-01-01

    Among terrestrial arthropods, the dragonfly species Pantala flavescens is remarkable due to their nearly global distribution and extensive migratory ranges; the largest of any known insect. Capable of migrating across oceans, the potential for high rates of gene flow among geographically distant populations is significant. It has been hypothesized that P. flavescens may be a global panmictic population but no sufficient genetic evidence has been collected thus far. Through a population genetic analysis of P. flavescens samples from North America, South America, and Asia, the current study aimed to examine the extent at which gene flow is occurring on a global scale and discusses the implications of the genetic patterns we uncovered on population structure and genetic diversity of the species. This was accomplished using PCR-amplified cytochrome oxidase one (CO1) mitochondrial DNA data to reconstruct phylogenetic trees, a haplotype network, and perform molecular variance analyses. Our results suggested high rates of gene flow are occurring among all included geographic regions; providing the first significant evidence that Pantala flavescens should be considered a global panmictic population. PMID:26934181

  14. A Global Population Genetic Study of Pantala flavescens.

    PubMed

    Troast, Daniel; Suhling, Frank; Jinguji, Hiroshi; Sahlén, Göran; Ware, Jessica

    2016-01-01

    Among terrestrial arthropods, the dragonfly species Pantala flavescens is remarkable due to their nearly global distribution and extensive migratory ranges; the largest of any known insect. Capable of migrating across oceans, the potential for high rates of gene flow among geographically distant populations is significant. It has been hypothesized that P. flavescens may be a global panmictic population but no sufficient genetic evidence has been collected thus far. Through a population genetic analysis of P. flavescens samples from North America, South America, and Asia, the current study aimed to examine the extent at which gene flow is occurring on a global scale and discusses the implications of the genetic patterns we uncovered on population structure and genetic diversity of the species. This was accomplished using PCR-amplified cytochrome oxidase one (CO1) mitochondrial DNA data to reconstruct phylogenetic trees, a haplotype network, and perform molecular variance analyses. Our results suggested high rates of gene flow are occurring among all included geographic regions; providing the first significant evidence that Pantala flavescens should be considered a global panmictic population. PMID:26934181

  15. Toxoplasmosis in Sand cats (Felis margarita) and other animals in the Breeding Centre for Endangered Arabian Wildlife in the United Arab Emirates and Al Wabra Wildlife Preservation, the State of Qatar.

    PubMed

    Dubey, J P; Pas, An; Rajendran, C; Kwok, O C H; Ferreira, L R; Martins, J; Hebel, C; Hammer, S; Su, C

    2010-09-20

    The Sand cat (Felis margarita) is a small-sized felid found in sand and stone deserts ranging from the north of Africa to Asia, with the Arabian Peninsula as its centre of distribution. The Sand cat captive breeding program at the Breeding Centre for Endangered Arabian Wildlife (BCEAW), Sharjah, UAE, has experienced high newborn mortality rates, and congenital toxoplasmosis was recently recognized as one of the causes of this mortality. In the present study, one 18-month-old Sand cat (FM019) died of acute toxoplasmosis-associated hepatitis and pneumonitis acquired after birth; Toxoplasma gondii was demonstrated in histological sections which reacted with T. gondii polyclonal antibodies by immunohistochemistry (IHC). T. gondii DNA was found by PCR of extracted DNA from liver and lung tissues of this cat. Antibodies to T. gondii were found in serum examined in 1:1600 dilution in the modified agglutination test (MAT); its 2-year-old cage mate seroconverted (MAT titer 1:3200) at the same time. Another Sand cat (FM017) was euthanized because of ill health when 3 years old; its MAT titer was >1:3200, and T. gondii tissue cysts were found in brain, heart, ocular muscles and skeletal muscle, confirmed by IHC. Viable T. gondii was isolated by bioassays in mice inoculated with tissues of another chronically infected Sand cat (FM002); T. gondii was not found in histological sections of this cat. T. gondii antibodies were found in several species of animals tested, notably in 49 of 57 wild felids at BCEAW. A 7-year-old Sand cat (3657) from Al Wabra Wildlife Preservation (AWWP), Doha, State of Qatar died of acute visceral toxoplasmosis with demonstrable T. gondii tachyzoites by IHC, and T. gondii DNA by PCR, and a MAT titer of >3200. T. gondii antibodies were found in 21 of 27 of wild felids at AWWP. PCR-RFLP genotyping at 10 genetic loci revealed that these T. gondii isolates from Sand cat (FM002 and FM019) at BCEAW have an atypical genotype, which was previously reported in T

  16. SU-E-P-57: Radiation Doses Assessment to Paediatric Patients for Some Digital Diagnostic Radiology Examination in Emergency Department in Qatar

    SciTech Connect

    Abdallah, I; Aly, A; Al Naemi, H

    2015-06-15

    Purpose: The aim of this study was to evaluate radiation doses to pediatric patients undergoing standard radiographic examinations using Direct Digital Radiography (DDR) in Paediatric emergency center of Hamad General Hospital (HGH) in state of Qatar and compared with regional and international Dose Reference Levels (DRLs). Methods: Entrance Skin Dose (ESD) was measured for 2739 patients for two common X-ray examinations namely: Chest AP/PA, Abdomen. Exposure factors such as kV, mAs and Focal to Skin Distance (FSD) were recorded for each patient. Tube Output was measured for a range of selected kV values. ESD for each individual patient was calculated using the tube output and the technical exposure factors for each examination. The ESD values were compared with the some international Dose Reference Levels (DRL) for all types of examinations. Results: The most performed procedure during the time of this study was chest PA/PA (85%). The mean ESD values obtained from AP chest, PA chest and AP abdomen ranged 91–120, 80–84 and 209 – 659 µGy per radiograph for different age’s groups respectively. Two protocols have been used for chest AP and PA using different radiological parameters, and the different of ESD values for chest PA and were 41% for 1 years old child, 57% for 5 years old for chest AP. Conclusion: The mean ESD were compared with those found in literature and were found to be comparable. The radiation dose can be reduced more for Chest AP and PA examination by optimization of each investigation and hence more studies are required for this task. The results presented will serve as a baseline data needed for deriving local reference doses for pediatric X-ray examinations in this local department and hence it can be applied in the whole Qatar.

  17. 75 FR 66360 - Transportation and Energy Products and Services Trade Mission; Doha, Qatar, and Abu Dhabi and...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-28

    ..., and Abu Dhabi and Dubai, U.A.E. I. Mission Description The United States Department of Commerce's... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF COMMERCE... key decision makers in the U.A.E. and Qatar, and form partnerships which will allow their companies...

  18. The Admission and Academic Placement of Students from: Bahrain, Oman, Qatar, United Arab Emirates, Yemen Arab Republic.

    ERIC Educational Resources Information Center

    Johnson, J. K., Ed.

    Information is provided on the educational systems of Bahrain, Oman, Qatar, the United Arab Emirates, and the Yemen Arab Republic in order to assist U.S. colleges and universities as they work with international student agencies and representatives from these countries. For each country, placement recommendations are offered, along with notes to…

  19. QATAR-2: A K DWARF ORBITED BY A TRANSITING HOT JUPITER AND A MORE MASSIVE COMPANION IN AN OUTER ORBIT

    SciTech Connect

    Bryan, Marta L.; Alsubai, Khalid A.; Latham, David W.; Quinn, Samuel N.; Carter, Joshua A.; Berlind, Perry; Brown, Warren R.; Calkins, Michael L.; Esquerdo, Gilbert A.; Furesz, Gabor; Stefanik, Robert P.; Torres, Guillermo; Parley, Neil R.; Collier Cameron, Andrew; Horne, Keith D.; Fulton, Benjamin J.; Street, Rachel A.; Buchhave, Lars A.; Jorgensen, Uffe Grae; West, Richard G.; and others

    2012-05-01

    We report the discovery and initial characterization of Qatar-2b, a hot Jupiter transiting a V = 13.3 mag K dwarf in a circular orbit with a short period, P{sub b} = 1.34 days. The mass and radius of Qatar-2b are M{sub P} = 2.49 M{sub J} and R{sub P} = 1.14 R{sub J}, respectively. Radial-velocity monitoring of Qatar-2 over a span of 153 days revealed the presence of a second companion in an outer orbit. The Systemic Console yielded plausible orbits for the outer companion, with periods on the order of a year and a companion mass of at least several M{sub J}. Thus, Qatar-2 joins the short but growing list of systems with a transiting hot Jupiter and an outer companion with a much longer period. This system architecture is in sharp contrast to that found by Kepler for multi-transiting systems, which are dominated by objects smaller than Neptune, usually with tightly spaced orbits that must be nearly coplanar.

  20. Effects of Inquiry-Based Science Instruction on Science Achievement and Interest in Science: Evidence from Qatar

    ERIC Educational Resources Information Center

    Areepattamannil, Shaljan

    2012-01-01

    The author sought to investigate the effects of inquiry-based science instruction on science achievement and interest in science of 5,120 adolescents from 85 schools in Qatar. Results of hierarchical linear modeling analyses revealed the substantial positive effects of science teaching and learning with a focus on model or applications and…

  1. Genetic assessment of additional endophenotypes from the Consortium on the Genetics of Schizophrenia Family Study.

    PubMed

    Greenwood, Tiffany A; Lazzeroni, Laura C; Calkins, Monica E; Freedman, Robert; Green, Michael F; Gur, Raquel E; Gur, Ruben C; Light, Gregory A; Nuechterlein, Keith H; Olincy, Ann; Radant, Allen D; Seidman, Larry J; Siever, Larry J; Silverman, Jeremy M; Stone, William S; Sugar, Catherine A; Swerdlow, Neal R; Tsuang, Debby W; Tsuang, Ming T; Turetsky, Bruce I; Braff, David L

    2016-01-01

    The Consortium on the Genetics of Schizophrenia Family Study (COGS-1) has previously reported our efforts to characterize the genetic architecture of 12 primary endophenotypes for schizophrenia. We now report the characterization of 13 additional measures derived from the same endophenotype test paradigms in the COGS-1 families. Nine of the measures were found to discriminate between schizophrenia patients and controls, were significantly heritable (31 to 62%), and were sufficiently independent of previously assessed endophenotypes, demonstrating utility as additional endophenotypes. Genotyping via a custom array of 1536 SNPs from 94 candidate genes identified associations for CTNNA2, ERBB4, GRID1, GRID2, GRIK3, GRIK4, GRIN2B, NOS1AP, NRG1, and RELN across multiple endophenotypes. An experiment-wide p value of 0.003 suggested that the associations across all SNPs and endophenotypes collectively exceeded chance. Linkage analyses performed using a genome-wide SNP array further identified significant or suggestive linkage for six of the candidate endophenotypes, with several genes of interest located beneath the linkage peaks (e.g., CSMD1, DISC1, DLGAP2, GRIK2, GRIN3A, and SLC6A3). While the partial convergence of the association and linkage likely reflects differences in density of gene coverage provided by the distinct genotyping platforms, it is also likely an indication of the differential contribution of rare and common variants for some genes and methodological differences in detection ability. Still, many of the genes implicated by COGS through endophenotypes have been identified by independent studies of common, rare, and de novo variation in schizophrenia, all converging on a functional genetic network related to glutamatergic neurotransmission that warrants further investigation. PMID:26597662

  2. A Snapshot of Functional Genetic Studies in Medicago truncatula.

    PubMed

    Kang, Yun; Li, Minguye; Sinharoy, Senjuti; Verdier, Jerome

    2016-01-01

    In the current context of food security, increase of plant protein production in a sustainable manner represents one of the major challenges of agronomic research, which could be partially resolved by increased cultivation of legume crops. Medicago truncatula is now a well-established model for legume genomic and genetic studies. With the establishment of genomics tools and mutant populations in M. truncatula, it has become an important resource to answer some of the basic biological questions related to plant development and stress tolerance. This review has an objective to overview a decade of genetic studies in this model plant from generation of mutant populations to nowadays. To date, the three biological fields, which have been extensively studied in M. truncatula, are the symbiotic nitrogen fixation, the seed development, and the abiotic stress tolerance, due to their significant agronomic impacts. In this review, we summarize functional genetic studies related to these three major biological fields. We integrated analyses of a nearly exhaustive list of genes into their biological contexts in order to provide an overview of the forefront research advances in this important legume model plant. PMID:27555857

  3. A Snapshot of Functional Genetic Studies in Medicago truncatula

    PubMed Central

    Kang, Yun; Li, Minguye; Sinharoy, Senjuti; Verdier, Jerome

    2016-01-01

    In the current context of food security, increase of plant protein production in a sustainable manner represents one of the major challenges of agronomic research, which could be partially resolved by increased cultivation of legume crops. Medicago truncatula is now a well-established model for legume genomic and genetic studies. With the establishment of genomics tools and mutant populations in M. truncatula, it has become an important resource to answer some of the basic biological questions related to plant development and stress tolerance. This review has an objective to overview a decade of genetic studies in this model plant from generation of mutant populations to nowadays. To date, the three biological fields, which have been extensively studied in M. truncatula, are the symbiotic nitrogen fixation, the seed development, and the abiotic stress tolerance, due to their significant agronomic impacts. In this review, we summarize functional genetic studies related to these three major biological fields. We integrated analyses of a nearly exhaustive list of genes into their biological contexts in order to provide an overview of the forefront research advances in this important legume model plant. PMID:27555857

  4. Knowledge Gaining by Human Genetic Studies on Tuberculosis Susceptibility

    PubMed Central

    Qu, Hui-Qi; Fisher-Hoch, Susan P; McCormick, Joseph B

    2011-01-01

    Tuberculosis (TB) is a serious health issue in the developing world. Lack of knowledge on the etiological mechanisms of TB hinders the development of effective strategies for the treatment or prevention of TB disease. Human genetic study is an indispensable approach to understand the molecular basis of common diseases. Numerous efforts were made to screen the human genome for TB susceptibility by linkage mapping. A large number of candidate-based association studies of TB were performed to examine the association of predicted functional DNA variations in candidate genes. Recently, the first genome-wide association study (GWAS) on TB was reported. The GWAS is a proof-of-principle evidence which justifies the genetic approach to understand TB. Further hypothesis-free efforts on TB research may renovate the traditional idea of TB genetic susceptibility as none of the candidate genes with important roles in containing Mycobacterium tuberculosis (MTB) infection was identified of association with active TB, while the TB-associated loci in the GWAS harbors no gene with function in MTB infection. PMID:21179108

  5. [Genetic predisposition and Pediatric Acute Respiratory Distress Syndrome: New tools for genetic study].

    PubMed

    Erranz, M Benjamín; Wilhelm, B Jan; Riquelme, V Raquel; Cruces, R Pablo

    2015-01-01

    Acute respiratory distress syndrome (ARDS) is the most severe form of respiratory failure. Theoretically, any acute lung condition can lead to ARDS, but only a small percentage of individuals actually develop the disease. On this basis, genetic factors have been implicated in the risk of developing ARDS. Based on the pathophysiology of this disease, many candidate genes have been evaluated as potential modifiers in patient, as well as in animal models, of ARDS. Recent experimental data and clinical studies suggest that variations of genes involved in key processes of tissue, cellular and molecular lung damage may influence susceptibility and prognosis of ARDS. However, the pathogenesis of pediatric ARDS is complex, and therefore, it can be expected that many genes might contribute. Genetic variations such as single nucleotide polymorphisms and copy-number variations are likely associated with susceptibility to ARDS in children with primary lung injury. Genome-wide association (GWA) studies can objectively examine these variations, and help identify important new genes and pathogenetic pathways for future analysis. This approach might also have diagnostic and therapeutic implications, such as predicting patient risk or developing a personalized therapeutic approach to this serious syndrome. PMID:26235685

  6. High-precision multiband time series photometry of exoplanets Qatar-1b and TrES-5b

    NASA Astrophysics Data System (ADS)

    Mislis, D.; Mancini, L.; Tregloan-Reed, J.; Ciceri, S.; Southworth, J.; D'Ago, G.; Bruni, I.; Baştürk, Ö.; Alsubai, K. A.; Bachelet, E.; Bramich, D. M.; Henning, Th.; Hinse, T. C.; Iannella, A. L.; Parley, N.; Schroeder, T.

    2015-04-01

    We present an analysis of the Qatar-1 and TrES-5 transiting exoplanetary systems, which contain Jupiter-like planets on short-period orbits around K-dwarf stars. Our data comprise a total of 20 transit light curves obtained using five medium-class telescopes, operated using the defocusing technique. The average precision we reach in all our data is RMSQ = 1.1 mmag for Qatar-1 (V = 12.8) and RMST = 1.0 mmag for TrES-5 (V = 13.7). We use these data to refine the orbital ephemeris, photometric parameters, and measured physical properties of the two systems. One transit event for each object was observed simultaneously in three passbands (gri) using the BUSCA imager. The QES survey light curve of Qatar-1 has a clear sinusoidal variation on a period of P⋆ = 23.697 ± 0.123 d, implying significant star-spot activity. We searched for star-spot crossing events in our light curves, but did not find clear evidence in any of the new data sets. The planet in the Qatar-1 system did not transit the active latitudes on the surfaces of its host star. Under the assumption that P⋆ corresponds to the rotation period of Qatar-1A, the rotational velocity of this star is very close to the vsin i⋆ value found from observations of the Rossiter-McLaughlin effect. The low projected orbital obliquity found in this system thus implies a low absolute orbital obliquity, which is also a necessary condition for the transit chord of the planet to avoid active latitudes on the stellar surface.

  7. Relationships between anthropometric measures and athletic performance, with special reference to repeated-sprint ability, in the Qatar national soccer team.

    PubMed

    Brocherie, Franck; Girard, Olivier; Forchino, Fabricio; Al Haddad, Hani; Dos Santos, Gilvan A; Millet, Grégoire P

    2014-01-01

    The aim of this study was to determine potential relationships between anthropometric parameters and athletic performance with special consideration to repeated-sprint ability (RSA). Sixteen players of the senior male Qatar national soccer team performed a series of anthropometric and physical tests including countermovement jumps without (CMJ) and with free arms (CMJwA), straight-line 20 m sprint, RSA (6 × 35 m with 10 s recovery) and incremental field test. Significant (P < 0.05) relationships occurred between muscle-to-bone ratio and both CMJs height (r ranging from 0.56 to 0.69) as well as with all RSA-related variables (r < -0.53 for sprinting times and r = 0.54 for maximal sprinting speed) with the exception of the sprint decrement score (Sdec). The sum of six skinfolds and adipose mass index were largely correlated with Sdec (r = 0.68, P < 0.01 and r = 0.55, P < 0.05, respectively) but not with total time (TT, r = 0.44 and 0.33, P > 0.05, respectively) or any standard athletic tests. Multiple regression analyses indicated that muscular cross-sectional area for mid-thigh, adipose index, straight-line 20 m time, maximal sprinting speed and CMJwA are the strongest predictors of Sdec (r(2) = 0.89) and TT (r(2) = 0.95) during our RSA test. In the Qatar national soccer team, players' power-related qualities and RSA are associated with a high muscular profile and a low adiposity. This supports the relevance of explosive power for the soccer players and the larger importance of neuromuscular qualities determining the RSA. PMID:24742185

  8. Study of genetic direct search algorithms for function optimization

    NASA Technical Reports Server (NTRS)

    Zeigler, B. P.

    1974-01-01

    The results are presented of a study to determine the performance of genetic direct search algorithms in solving function optimization problems arising in the optimal and adaptive control areas. The findings indicate that: (1) genetic algorithms can outperform standard algorithms in multimodal and/or noisy optimization situations, but suffer from lack of gradient exploitation facilities when gradient information can be utilized to guide the search. (2) For large populations, or low dimensional function spaces, mutation is a sufficient operator. However for small populations or high dimensional functions, crossover applied in about equal frequency with mutation is an optimum combination. (3) Complexity, in terms of storage space and running time, is significantly increased when population size is increased or the inversion operator, or the second level adaptation routine is added to the basic structure.

  9. Genetically engineered mouse models to study prostate cancer.

    PubMed

    Brzezinska, Elspeth A; Nixon, Colin; Patel, Rachana; Leung, Hing Y

    2015-01-01

    Genetically engineered mouse models have become fundamental tools in the basic and translational research of prostate cancer. There is a plethora of models available to dissect the genetic alterations and aberrant signaling events associated with human prostate cancer and, furthermore, to investigate new and "personalized" therapies to treat the disease. In this chapter, we discuss some of the models recently and currently used to study prostate cancer in vivo, and some considerations when selecting an appropriate model to investigate particular aspects of the disease. We describe the methods required to isolate prostate tumors and conduct basic characterization of the tumor to determine tumor load and histopathology. We also discuss important aspects to be considered when processing samples for further analysis. PMID:25636465

  10. Study of methanogens by genetic techniques. A subcontract progress report

    SciTech Connect

    Baresi, L.; Bertani, G.

    1984-06-01

    Genetic studies of methanogenic bacteria could lead to better exploitation of these organisms in the production of methane from biomass. The objective of this study is to develop a workable genetic system for these bacteria. We have tried to apply standard genetic techniques to these slow growing, strictly anaerobic bacteria. We have been able to isolate several types of mutants both spontaneous and induced. For Methanococcus voltae we have (a) established survival curves to ultraviolet light and gamma ray irradiation, (b) isolated by direct selection mutants resistant to bromo-ethane-sulfonate and to 5-methyl-tryptophan, and a double mutant exhibiting both resistances, (c) isolated after mutagenesis two nutritional mutants (one requiring histidine and the other requiring adenine and possibly another factor). For Methanobacterium thermoautotrophicum we have (a) established an ultraviolet light survival curve, (b) isolated by direct selection mutants resistant to bromo-ethane-sulfonate and to gentamicin. We have developed a routine technique for the purpose of isolating phages capable of infecting methanogenic bacteria. 10 figures, 1 table.

  11. A retrospective drug use evaluation of cabergoline for lactation inhibition at a tertiary care teaching hospital in Qatar

    PubMed Central

    AlSaad, Doua; ElSalem, Samah; Abdulrouf, Palli Valapila; Thomas, Binny; Alsaad, Tayseer; Ahmed, Afif; AlHail, Moza

    2016-01-01

    Background Breastfeeding is considered as gold standard for infant nutrition and should be interrupted only when a compelling indication exists. Certain medical conditions such as abortion, stillbirth, HIV infection, or infant galactosemia and certain medications such as chemotherapy necessitate lactation inhibition to protect the health of mother and infant. Drug use evaluation (DUE) studies are done to explore the current practice in a setting and help to identify areas in which further information and education may be needed by clinicians. Objective The aim of this study was to conduct a DUE of cabergoline to assess indications for lactation inhibition, dosage regimen, and its safety. Method A retrospective cross-sectional DUE study was conducted over a period of 4 months from September 1, 2013, till December 31, 2013, at the Women’s Hospital, Qatar. All cabergoline prescriptions written for lactation inhibition within 10 days of delivery or abortion were included in the study. A descriptive data analysis was undertaken. Results Of the 85 patients included, stillbirth (50.6%) was considered as the main reason for lactation inhibition, followed by abortion (27.1%) and neonatal death (12.9%). The remaining 9.4% of the patients had live baby, and the majority of them were prescribed cabergoline for lactation inhibition because their maternal medical conditions required the use of drugs with insufficient safety data (n=6). Seventy-four percent of patients received cabergoline at accurate time and dose. However, 14% of the patients had preexisting hypertensive disorder and 58.3% of them were diagnosed as uncontrolled hypertension. Conclusion The current DUE study found that cabergoline was mainly used to inhibit lactation for patients with stillbirth, abortion, and neonatal death. In mothers who use medications for other medical conditions, benefits and risks of breastfeeding should be carefully balanced before prescribing cabergoline. Current prescribing pattern

  12. Genetic influences on osteoarthritis in women: a twin study.

    PubMed Central

    Spector, T. D.; Cicuttini, F.; Baker, J.; Loughlin, J.; Hart, D.

    1996-01-01

    OBJECTIVES--To assess the relative contribution of genetic and environmental factors to common forms of osteoarthritis of the hands and knees. DESIGN--Classic twin study with unselected twins who were screened radiologically for osteoarthritis. SUBJECTS--130 identical and 120 non-identical female twins aged 48-70 recruited from a London based twin register and through a national media campaign. MAIN OUTCOME MEASURES--Similarity in identical compared with non-identical twin pairs for radiographic changes at the interphalangeal and first carpometacarpal joints of the hands and the tibiofemoral joint and patellofemoral joint of the knee expressed as intraclass correlations. RESULTS--The intraclass correlations of radiographic osteophytes and narrowing at most sites and the presence of Heberden's nodes and knee pain were higher in the identical pairs. The intraclass correlation of the total radiographic osteoarthritis score in identical pairs (rMZ) was 0.64 (SE 0.05) compared with 0.38 (0.08) in non-identical pairs. The proportion of genetic variance of total osteoarthritis score (osteophytes and narrowing) with modelling techniques was estimated at 0.54 (95% confidence interval 0.43 to 0.65) and ranged from 0.39 to 0.65 for different sites and features (p < 0.001) after adjustment for age and weight. CONCLUSIONS--These results demonstrate for the first time a clear genetic effect for radiographic osteoarthritis of the hand and knee in women, with a genetic influence ranging from 39-65%, independent of known environmental or demographic confounders. The results of this study should lead to further work on isolating the gene or genes involved in the pathogenesis of the common disabling disease. PMID:8616305

  13. Comparative Genetics: Synergizing Human and NOD Mouse Studies for Identifying Genetic Causation of Type 1 Diabetes

    PubMed Central

    Driver, John P.; Chen, Yi-Guang; Mathews, Clayton E.

    2012-01-01

    Although once widely anticipated to unlock how human type 1 diabetes (T1D) develops, extensive study of the nonobese diabetic (NOD) mouse has failed to yield effective treatments for patients with the disease. This has led many to question the usefulness of this animal model. While criticism about the differences between NOD and human T1D is legitimate, in many cases disease in both species results from perturbations modulated by the same genes or different genes that function within the same biological pathways. Like in humans, unusual polymorphisms within an MHC class II molecule contributes the most T1D risk in NOD mice. This insight supports the validity of this model and suggests the NOD has been improperly utilized to study how to cure or prevent disease in patients. Indeed, clinical trials are far from administering T1D therapeutics to humans at the same concentration ranges and pathological states that inhibit disease in NOD mice. Until these obstacles are overcome it is premature to label the NOD mouse a poor surrogate to test agents that cure or prevent T1D. An additional criticism of the NOD mouse is the past difficulty in identifying genes underlying T1D using conventional mapping studies. However, most of the few diabetogenic alleles identified to date appear relevant to the human disorder. This suggests that rather than abandoning genetic studies in NOD mice, future efforts should focus on improving the efficiency with which diabetes susceptibility genes are detected. The current review highlights why the NOD mouse remains a relevant and valuable tool to understand the genes and their interactions that promote autoimmune diabetes and therapeutics that inhibit this disease. It also describes a new range of technologies that will likely transform how the NOD mouse is used to uncover the genetic causes of T1D for years to come. PMID:23804259

  14. Functional Analysis of the Human Genome:. Study of Genetic Disease

    NASA Astrophysics Data System (ADS)

    Tsui, Lap-Chee

    2003-04-01

    I will divide my remarks into 3 parts. First, I will give a brief summary of the Human Genome Project. Second, I will describe our work on human chromosome 7 to illustrate how we could contribute to the Project and disease research. Third, I would like to bring across the argument that study of genetic disease is an integral component of the Human Genome Project. In particular, I will use cystic fibrosis as an example to elaborate why I consider disease study is a part of functional genomics.

  15. Pathogenesis of immunoglobulin A nephropathy: recent insight from genetic studies.

    PubMed

    Kiryluk, Krzysztof; Novak, Jan; Gharavi, Ali G

    2013-01-01

    Recent genome-wide association studies (GWAS) have identified multiple susceptibility loci for immunoglobulin A nephropathy (IgAN), the most common form of glomerulonephritis, implicating independent defects in adaptive immunity (three loci on chromosome 6p21 in the MHC region), innate immunity (8p23 DEFA locus, 17p23 TNFSF13 locus, 22q12 HORMAD2 locus), and the alternative complement pathway (1q32 CFH/CFHR locus). In geospatial analysis of 85 populations, a genetic risk score based on the replicated GWAS loci is highest in Asians, intermediate in Europeans, and lowest in Africans, capturing the known difference in prevalence among world populations. The genetic risk score also uncovered a previously unsuspected increased prevalence of IgAN-attributable kidney failure in Northern Europe. The IgAN risk alleles have opposing effects on many immune-mediated diseases, suggesting that selection has contributed to variation in risk allele frequencies among different populations. Incorporating genetic, immunologic, and biochemical data, we present a multistep pathogenesis model that provides testable hypotheses for dissecting the mechanisms of disease. PMID:23072577

  16. Meta-analyses of genetic studies on major depressive disorder.

    PubMed

    López-León, S; Janssens, A C J W; González-Zuloeta Ladd, A M; Del-Favero, J; Claes, S J; Oostra, B A; van Duijn, C M

    2008-08-01

    The genetic basis of major depressive disorder (MDD) has been investigated extensively, but the identification of MDD genes has been hampered by conflicting results from underpowered studies. We review all MDD case-control genetic association studies published before June 2007 and perform meta-analyses for polymorphisms that had been investigated in at least three studies. The study selection and data extraction were performed in duplicate by two independent investigators. The 183 papers that met our criteria studied 393 polymorphisms in 102 genes. Twenty-two polymorphisms (6%) were investigated in at least three studies. Seven polymorphisms had been evaluated in previous meta-analyses, 5 of these had new data available. Hence, we performed meta-analyses for 20 polymorphisms in 18 genes. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Statistically significant associations were found for the APOE varepsilon2 (OR, 0.51), GNB3 825T (OR, 1.38), MTHFR 677T (OR, 1.20), SLC6A4 44 bp Ins/Del S (OR, 1.11) alleles and the SLC6A3 40 bpVNTR 9/10 genotype (OR, 2.06). To date, there is statistically significant evidence for six MDD susceptibility genes (APOE, DRD4, GNB3, MTHFR, SLC6A3 and SLC6A4). PMID:17938638

  17. Scientific rationality, uncertainty and the governance of human genetics: an interview study with researchers at deCODE genetics.

    PubMed

    Hjörleifsson, Stefán; Schei, Edvin

    2006-07-01

    Technology development in human genetics is fraught with uncertainty, controversy and unresolved moral issues, and industry scientists are sometimes accused of neglecting the implications of their work. The present study was carried out to elicit industry scientists' reflections on the relationship between commercial, scientific and ethical dimensions of present day genetics and the resources needed for robust governance of new technologies. Interviewing scientists of the company deCODE genetics in Iceland, we found that in spite of optimism, the informants revealed ambiguity and uncertainty concerning the use of human genetic technologies for the prevention of common diseases. They concurred that uncritical marketing of scientific success might cause exaggerated public expectations of health benefits from genetics, with the risk of backfiring and causing resistance to genetics in the population. On the other hand, the scientists did not address dilemmas arising from the commercial nature of their own employer. Although the scientists tended to describe public fear as irrational, they identified issues where scepticism might be well founded and explored examples where they, despite expert knowledge, held ambiguous or tentative personal views on the use of predictive genetic technologies. The rationality of science was not seen as sufficient to ensure beneficial governance of new technologies. The reflexivity and suspension of judgement demonstrated in the interviews exemplify productive features of moral deliberation in complex situations. Scientists should take part in dialogues concerning the governance of genetic technologies, acknowledge any vested interests, and use their expertise to highlight, not conceal the technical and moral complexity involved. PMID:16622446

  18. Genetic Geostatistical Framework for Spatial Analysis of Fine-Scale Genetic Heterogeneity in Modern Populations: Results from the KORA Study.

    PubMed

    Diaz-Lacava, A N; Walier, M; Holler, D; Steffens, M; Gieger, C; Furlanello, C; Lamina, C; Wichmann, H E; Becker, T

    2015-01-01

    Aiming to investigate fine-scale patterns of genetic heterogeneity in modern humans from a geographic perspective, a genetic geostatistical approach framed within a geographic information system is presented. A sample collected for prospective studies in a small area of southern Germany was analyzed. None indication of genetic heterogeneity was detected in previous analysis. Socio-demographic and genotypic data of German citizens were analyzed (212 SNPs; n = 728). Genetic heterogeneity was evaluated with observed heterozygosity (H O ). Best-fitting spatial autoregressive models were identified, using socio-demographic variables as covariates. Spatial analysis included surface interpolation and geostatistics of observed and predicted patterns. Prediction accuracy was quantified. Spatial autocorrelation was detected for both socio-demographic and genetic variables. Augsburg City and eastern suburban areas showed higher H O values. The selected model gave best predictions in suburban areas. Fine-scale patterns of genetic heterogeneity were observed. In accordance to literature, more urbanized areas showed higher levels of admixture. This approach showed efficacy for detecting and analyzing subtle patterns of genetic heterogeneity within small areas. It is scalable in number of loci, even up to whole-genome analysis. It may be suggested that this approach may be applicable to investigate the underlying genetic history that is, at least partially, embedded in geographic data. PMID:26258132

  19. Genetic Geostatistical Framework for Spatial Analysis of Fine-Scale Genetic Heterogeneity in Modern Populations: Results from the KORA Study

    PubMed Central

    Diaz-Lacava, A. N.; Walier, M.; Holler, D.; Steffens, M.; Gieger, C.; Furlanello, C.; Lamina, C.; Wichmann, H. E.; Becker, T.

    2015-01-01

    Aiming to investigate fine-scale patterns of genetic heterogeneity in modern humans from a geographic perspective, a genetic geostatistical approach framed within a geographic information system is presented. A sample collected for prospective studies in a small area of southern Germany was analyzed. None indication of genetic heterogeneity was detected in previous analysis. Socio-demographic and genotypic data of German citizens were analyzed (212 SNPs; n = 728). Genetic heterogeneity was evaluated with observed heterozygosity (HO). Best-fitting spatial autoregressive models were identified, using socio-demographic variables as covariates. Spatial analysis included surface interpolation and geostatistics of observed and predicted patterns. Prediction accuracy was quantified. Spatial autocorrelation was detected for both socio-demographic and genetic variables. Augsburg City and eastern suburban areas showed higher HO values. The selected model gave best predictions in suburban areas. Fine-scale patterns of genetic heterogeneity were observed. In accordance to literature, more urbanized areas showed higher levels of admixture. This approach showed efficacy for detecting and analyzing subtle patterns of genetic heterogeneity within small areas. It is scalable in number of loci, even up to whole-genome analysis. It may be suggested that this approach may be applicable to investigate the underlying genetic history that is, at least partially, embedded in geographic data. PMID:26258132

  20. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods.

    PubMed

    Dietrich, Andrea; Fernandez, Thomas V; King, Robert A; State, Matthew W; Tischfield, Jay A; Hoekstra, Pieter J; Heiman, Gary A

    2015-02-01

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarified fully. There is now mounting evidence that the genetic risks for TS include both common and rare variants and may involve complex multigenic inheritance or, in rare cases, a single major gene. Based on recent progress in many other common disorders with apparently similar genetic architectures, it is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive gene discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA) are part of a sharing repository located within the National Institute for Mental Health Center for Collaborative Genomics Research on Mental Disorders, USA, and will be made available to the broad scientific community. This resource will ultimately facilitate better understanding of the pathophysiology of TS and related disorders and the development of novel therapies. Here, we describe the objectives and methods of the TIC Genetics study as a reference for future studies from our group and to facilitate collaboration between genetics consortia in the field of TS. PMID:24771252

  1. Primary coronary angioplasty for ST-Elevation Myocardial Infarction in Qatar: First nationwide program.

    PubMed

    Gehani, Abdurrazzak; Al Suwaidi, Jassim; Arafa, Salah; Tamimi, Omer; Alqahtani, Awad; Al-Nabti, Abdulrahman; Arabi, Abdulrahman; Aboughazala, Tarek; Bonow, Robert O; Yacoub, Magdi

    2012-01-01

    In this article, we outline the plans, protocols and strategies to set up the first nationwide primary Percutaneous Coronary Intervention (PCI) program for ST-elevation myocardial Infarction (STEMI) in Qatar, as well as the difficulties and the multi-disciplinary solutions that we adopted in preparation. We will also report some of the landmark literature that guided our plans. The guidelines underscore the need for adequate number of procedures to justify establishing a primary-PCI service and maintain competency. The number of both diagnostic and interventional procedures in our centre has increased substantially over the years. The number of diagnostic procedures has increased from 1470 in 2007, to 2200 in 2009 and is projected to exceed 3000 by the end of 2012. The total number of PCIs has also increased from 443 in 2007, to 646 in 2009 and 1176 in 2011 and is expected to exceed 1400 by the end of 2012. These figures qualify our centre to be classified as 'high volume', both for the institution and for the individual interventional operators. The initial number of expected primary PCI procedures will be in excess of 600 procedures per year. Guidelines also emphasize the door to balloon time (DBT), which should not exceed 90 minutes. This interval mainly represents in-hospital delay and reflects the efficiency of the hospital system in the rapid recognition and transfer of the STEMI patient to the catheterization laboratory for primary-PCI. Although DBT is clearly important and is in the forefront of planning for the wide primary PCI program, it is not the only important time interval. Myocardial necrosis begins before the patient arrives to the hospital and even before first medical contact, so time is of the essence. Therefore, our primary PCI program includes a nationwide awareness program for both the population and health care professionals to reduce the pre-hospital delay. We have also taken steps to improve the pre-hospital diagnosis of STEMI. In addition

  2. Hydrodynamic trapping in the Cretaceous Nahr Umr lower sand of the North Area, Offshore Qatar

    SciTech Connect

    Wells, P.R.A.

    1988-03-01

    A hydrodynamic model is described to account for oil and gas occurrences in the Cretaceous of offshore Qatar, in the Arabian Gulf. Variable and inconsistent fluid levels and variable formation water potentials and salinities cannot be explained by combinations of stratigraphic and structural trapping. Indeed, there is no structural closure to the southwest of the oil and gas accumulations. The water-potential and salinity data and oil distribution are consistent with this model and indicate that a vigorous hydrodynamic system pervades the Cretaceous of the Arabian Gulf region. Extensive upward cross-formational discharge is taking place in the North Area. This cross-formation water flow could be partly responsible for localized leaching and reservoir enhancement in the chalky limestones.

  3. Primary coronary angioplasty for ST-Elevation Myocardial Infarction in Qatar: First nationwide program

    PubMed Central

    Gehani, Abdurrazzak; Al Suwaidi, Jassim; Arafa, Salah; Tamimi, Omer; Alqahtani, Awad; Al-Nabti, Abdulrahman; Arabi, Abdulrahman; Aboughazala, Tarek; Bonow, Robert O; Yacoub, Magdi

    2012-01-01

    Abstract: In this article, we outline the plans, protocols and strategies to set up the first nationwide primary Percutaneous Coronary Intervention (PCI) program for ST-elevation myocardial Infarction (STEMI) in Qatar, as well as the difficulties and the multi-disciplinary solutions that we adopted in preparation. We will also report some of the landmark literature that guided our plans. The guidelines underscore the need for adequate number of procedures to justify establishing a primary-PCI service and maintain competency. The number of both diagnostic and interventional procedures in our centre has increased substantially over the years. The number of diagnostic procedures has increased from 1470 in 2007, to 2200 in 2009 and is projected to exceed 3000 by the end of 2012. The total number of PCIs has also increased from 443 in 2007, to 646 in 2009 and 1176 in 2011 and is expected to exceed 1400 by the end of 2012. These figures qualify our centre to be classified as ‘high volume’, both for the institution and for the individual interventional operators. The initial number of expected primary PCI procedures will be in excess of 600 procedures per year. Guidelines also emphasize the door to balloon time (DBT), which should not exceed 90 minutes. This interval mainly represents in-hospital delay and reflects the efficiency of the hospital system in the rapid recognition and transfer of the STEMI patient to the catheterization laboratory for primary-PCI. Although DBT is clearly important and is in the forefront of planning for the wide primary PCI program, it is not the only important time interval. Myocardial necrosis begins before the patient arrives to the hospital and even before first medical contact, so time is of the essence. Therefore, our primary PCI program includes a nationwide awareness program for both the population and health care professionals to reduce the pre-hospital delay. We have also taken steps to improve the pre-hospital diagnosis of

  4. Genetic studies of bipolar affective disorder in large families.

    PubMed

    Blackwood, D H; Visscher, P M; Muir, W J

    2001-06-01

    Background Genetic factors are known to be important in the aetiology of bipolar disorder. Aims To review linkage studies in extended families multiply affected with bipolar disorder. Method Selective review of linkage studies of bipolar disorder emphasising the gains and drawbacks of studying large multiply-affected families and comparing the statistical methods used for data analysis. Results Linkage of bipolar disorder to several chromosome regions including 4p, 4q, 10p, 12q, 16p, 18q, 21q and Xq has first been reported in extended families. In other families chromosomal rearrangements associated with affective illnesses provide signposts to the location of disease-related genes. Statistical analyses using variance component methods can be applied to extended families, require no prior knowledge of the disease inheritance, and can test multilocus models. Conclusion Studying single large pedigrees combined with variance component analysis is an efficient and effective strategy likely to lead to further insights into the genetic basis of bipolar disorders. PMID:11388952

  5. Population genetic studies in the Balkans. I. Serum proteins.

    PubMed

    Scheil, H G; Scheffrahn, W; Schmidt, H D; Huckenbeck, W; Efremovska, L; Xirotiris, N

    2001-09-01

    Within a study of the genetics of Southeastern European populations seven serum protein polymorphisms (AMY2, BF, C3, CP, GC, HPA, TF) were examined in three samples of Aromuns (Albania: the village of Andon Poci, province Gjirocaster, Republic of Macedonia: Stip region, Romania: the village Kogalniceanu, province Dobruja) and four reference samples (Albanians: Tirana, Romanians: Constanta and Ploiesti as well as Greeks (Northeastern Greece)). The Aromun samples from Albania and Romania form one separate cluster and the reference samples together with the Aromuns from Macedonia (Stip region) form a second one. PMID:11591047

  6. Studies of genetic transformation of higher plants using irradiated pollen

    SciTech Connect

    Chyi, Y.S.

    1984-01-01

    Pandey has reported extensively on an unusual genetic phenomenon he called egg transformation. When compatible pollen was treated wth genetically lethal dosage of ..gamma..-radiation (100,000 rad), and used as mentor pollen to overcome selfincompatibility of several Nicotiana species, some genetic characters were found to be transferred from the radiation killed pollen to nonhybrid progeny. Observed transformants were fertile, cytogenetically normal, and had maternal phenotypes except for those specific traits transferred from the donors. Heavily irradiated pollen was believed to discharge its radiation-fragmented DNA (chromatin) into the embryo sac and bring about the transformation of the egg. The frequency of gene transfer was reported to be over 50%, and happened for all three characters Pandey studied - self incompatible specificities, flower color, and pollen color. Plant species studied were tomato, pea, apple, rapeseed, and Nicotiana species, including various stocks from Dr. Pandey. Treatments included pollinations with soley irradiated donor pollen, with a mixture of irradiated donor and normal self pollen, with a mixture of normal donor and self pollen, and double pollinations with irradiated donor pollen and normal self pollen, using different time intervals to separate the two pollinations. A total of 6210 pollinations were made, and 17,522 seedlings representing 87,750 potential transformational events were screened. In no case was an unambiguous transformant recovered. This research was unable to confirm or expand upon the findings of Dr. Pandey, or elucidate the mechanisms underlying such phenomena. Alternative explanations for Pandey's data were postulated. This approach to gene transfer by using irradiated pollen appears to be of little practical use to plant breeders.

  7. [Genome-wide association study on complex diseases: study design and genetic markers].

    PubMed

    Yan, Wei-Li

    2008-04-01

    Genome-wide association study used to be a dream of geneticists years ago, but now it came true. Since the first paper reported the finding of genetic variation contributing to human age-related macular degeneration by genome-wide association study in 2005, a numbers of whole genome studies have been published. The present paper reviewed some common comments in whole genome association study on complex diseases, including achievements of genome-wide association studies on complex traits or diseases, principles of study design, selection of genetic marker in genome, and comparisons of different commercial products for whole genome association study. Finally a newly defined genetic variation, copy number variation, was briefly introduced. This paper also summarized the shortcomings of current genome-wide association studies and perspectives of its future. PMID:18424408

  8. The Case of the "Tainted" Taco Shells: A Case Study on Genetically Modified Foods

    ERIC Educational Resources Information Center

    Taylor, Ann T. S.

    2004-01-01

    This case study introduces students to the use of genetically modified foods. Students learn how genetically modified plants are made, and then they read primary literature papers to evaluate the environmental, economic, and health issues. (Contains 2 figures.)

  9. Biochemical and Molecular Genetic Studies on Biosilica Morphogenesis in Diatoms

    NASA Astrophysics Data System (ADS)

    Kroger, N.; Poulsen, N.

    2006-12-01

    Diatoms are a large group of unicellular microalgae encased by silica cell walls that exhibit species-specific micro-and nanopatterns. Previously, we have characterized from diatoms unique phosphoproteins (termed silaffins) and unusually long polyamine chains (termed LCPA), which have both been implicated in biosilica formation. While the chemical structures of LCPA are largely conserved among different diatom species, the silaffins exhibit extensive structural variations. In vitro studies on the silica formation activities of silaffins and LCPA from the diatom Thalassiosira pseudonana indicate that silica morphogenesis is primarily determined by silaffins rather than LCPA. Recently, the complete genome sequence of T. pseudonana has become available, which for the first time opens the door to employ functional genomic approaches for studying the mechanism of silica biomineralization. To this end we have established the first genetic transformation system for T. pseudonana, which will be instrumental for analyzing the functions of silaffins in vivo, and for identifying new components of the diatom silica forming machinery. Here we describe the current knowledge on the structures and properties of silaffins and LCPA, the methods for genetic manipulation of T. pseudonana, and the first experimental steps towards functional genomics in diatoms.

  10. Osteoporosis and genetic influence: a three-generation study.

    PubMed Central

    Kahn, S. A.; Pace, J. E.; Cox, M. L.; Gau, D. W.; Cox, S. A.; Hodkinson, H. M.

    1994-01-01

    We have studied 27 triads of mother, daughter and grandmother for possible genetic influence on distal and proximal forearm bone density, measured by single photon absorptiometry. We found a significant correlation of bone density at the proximal forearm between the mothers and grandmothers (r = 0.499, P < 0.01). There was also a weak correlation between proximal forearm bone densities of mothers and daughters (r = 0.327, P < 0.1). Significant correlations were found between the three generations for grip strength, pedometry, height and triceps skinfold thickness. There was also significant correlation between mother and grandmother for alcohol intake. There was no correlation for contraceptive pill use, smoking, dietary calcium intake, body weight or body mass index. The study concludes that, although there are similarities in bone mineral content between the three generations, genetic factors cannot be conclusively proven to be the major determinant of bone density. Lifestyle and environmental factors may have a bearing on achieving the peak bone mass and subsequent development of osteoporosis. PMID:7824412

  11. Discerning the Ancestry of European Americans in Genetic Association Studies

    PubMed Central

    Price, Alkes L; Butler, Johannah; Patterson, Nick; Capelli, Cristian; Pascali, Vincenzo L; Scarnicci, Francesca; Ruiz-Linares, Andres; Groop, Leif; Saetta, Angelica A; Korkolopoulou, Penelope; Seligsohn, Uri; Waliszewska, Alicja; Schirmer, Christine; Ardlie, Kristin; Ramos, Alexis; Nemesh, James; Arbeitman, Lori; Goldstein, David B

    2008-01-01

    European Americans are often treated as a homogeneous group, but in fact form a structured population due to historical immigration of diverse source populations. Discerning the ancestry of European Americans genotyped in association studies is important in order to prevent false-positive or false-negative associations due to population stratification and to identify genetic variants whose contribution to disease risk differs across European ancestries. Here, we investigate empirical patterns of population structure in European Americans, analyzing 4,198 samples from four genome-wide association studies to show that components roughly corresponding to northwest European, southeast European, and Ashkenazi Jewish ancestry are the main sources of European American population structure. Building on this insight, we constructed a panel of 300 validated markers that are highly informative for distinguishing these ancestries. We demonstrate that this panel of markers can be used to correct for stratification in association studies that do not generate dense genotype data. PMID:18208327

  12. Methods to Study Metastasis in Genetically Modified Mice.

    PubMed

    Kabeer, Farhia; Beverly, Levi J; Darrasse-Jèze, Guillaume; Podsypanina, Katrina

    2016-02-01

    Metastasis is often modeled by xenotransplantation of cell lines in immunodeficient mice. A wealth of information about tumor cell behavior in the new environment is obtained from these efforts. Yet by design, this approach is "tumor-centric," as it focuses on cell-autonomous determinants of human tumor dissemination in mouse tissues, in effect using the animal body as a sophisticated "Petri dish" providing nutrients and support for tumor growth. Transgenic or gene knockout mouse models of cancer allow the study of tumor spread as a systemic disease and offer a complimentary approach for studying the natural history of cancer. This introduction is aimed at describing the overall methodological approach to studying metastasis in genetically modified mice, with a particular focus on using animals with regulated expression of potent human oncogenes in the breast. PMID:26832689

  13. Children of the atomic bomb survivors: A genetic study

    SciTech Connect

    Neel, J.V.; Schull, W.J.

    1991-01-01

    This volume represents the results of over 40 years of study of the latent health effects on the survivors of the atomic bomb blasts. Planning for this research began in 1946 and data collection has been ongoing since 1948. The work represents the efforts of both US and Japanese agencies and presents 13 papers which the editors believe represent the best scientific information related to the genetic effects of radiation exposure. In general, the results presented here indicate that radiation exposure effects on reproductive cells are less than previously thought. The paper contained here examine that question in light of effects on pregnancy outcome, sex ratio, congenital defects, and early mortality of children. The papers also present helpful comparison of these results with the results seen in experimental radiation studies with animals. For anyone interested in the risks associated with radiation studies, this book represents a vital collection of information.

  14. The power of genetic monitoring for studying demography, ecology and genetics of a reintroduced brown bear population.

    PubMed

    De Barba, M; Waits, L P; Garton, E O; Genovesi, P; Randi, E; Mustoni, A; Groff, C

    2010-09-01

    Genetic monitoring has rarely been used for wildlife translocations despite the potential benefits this approach offers, compared to traditional field-based methods. We applied genetic monitoring to the reintroduced brown bear population in northern Italy. From 2002 to 2008, 2781 hair and faecal samples collected noninvasively plus 12 samples obtained from captured or dead bears were used to follow the demographic and geographical expansion and changes in genetic composition. Individual genotypes were used to reconstruct the wild pedigree and revealed that the population increased rapidly, from nine founders to >27 individuals in 2008 (lambda=1.17-1.19). Spatial mapping of bear samples indicated that most bears were distributed in the region surrounding the translocation site; however, individual bears were found up to 163 km away. Genetic diversity in the population was high, with expected heterozygosity of 0.74-0.79 and allelic richness of 4.55-5.41. However, multi-year genetic monitoring data showed that mortality rates were elevated, immigration did not occur, one dominant male sired all cubs born from 2002 to 2005, genetic diversity declined, relatedness increased, inbreeding occurred, and the effective population size was extremely small (Ne=3.03, ecological method). The comprehensive information collected through genetic monitoring is critical for implementing future conservation plans for the brown bear population in the Italian Alps. This study provides a model for other reintroduction programmes by demonstrating how genetic monitoring can be implemented to uncover aspects of the demography, ecology and genetics of small and reintroduced populations that will advance our understanding of the processes influencing their viability, evolution, and successful restoration. PMID:20735733

  15. Deaf Adults’ Reasons for Genetic Testing Depend on Cultural Affiliation: Results From a Prospective, Longitudinal Genetic Counseling and Testing Study

    PubMed Central

    Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Dutton, Loriel; Tullis, LeeElle; Linden, Joyce; Kobayashi, Yoko; Zhou, Jin; Sinsheimer, Janet S.; Sininger, Yvonne; Grody, Wayne W.; Palmer, Christina G. S.

    2010-01-01

    This article examines the relationship between cultural affiliation and deaf adults’ motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf, or both communities, rated interest in testing for 21 reasons covering 5 life domains. Findings suggest strong interest in testing to learn why they are deaf, but little interest in using it for decisions about a partner or having children. Culturally mediated variation was also demonstrated. Deaf and both communities groups viewed testing as useful for more life domains than the hearing community group. Deaf and both communities had similar motivations related to further exploration, understanding, or strengthening of deafness. Motivations related to “hearing” were also relevant for both communities. We conclude that cultural affiliation is an important factor for constructing motivations for genetic testing. PMID:20488870

  16. Simultaneous Bayesian analysis of contingency tables in genetic association studies.

    PubMed

    Dickhaus, Thorsten

    2015-08-01

    Genetic association studies lead to simultaneous categorical data analysis. The sample for every genetic locus consists of a contingency table containing the numbers of observed genotype-phenotype combinations. Under case-control design, the row counts of every table are identical and fixed, while column counts are random. The aim of the statistical analysis is to test independence of the phenotype and the genotype at every locus. We present an objective Bayesian methodology for these association tests, which relies on the conjugacy of Dirichlet and multinomial distributions. Being based on the likelihood principle, the Bayesian tests avoid looping over all tables with given marginals. Making use of data generated by The Wellcome Trust Case Control Consortium (WTCCC), we illustrate that the ordering of the Bayes factors shows a good agreement with that of frequentist p-values. Furthermore, we deal with specifying prior probabilities for the validity of the null hypotheses, by taking linkage disequilibrium structure into account and exploiting the concept of effective numbers of tests. Application of a Bayesian decision theoretic multiple test procedure to the WTCCC data illustrates the proposed methodology. Finally, we discuss two methods for reconciling frequentist and Bayesian approaches to the multiple association test problem. PMID:26215535

  17. Modeling AEC-New approaches to study rare genetic disorders.

    PubMed

    Koch, Peter J; Dinella, Jason; Fete, Mary; Siegfried, Elaine C; Koster, Maranke I

    2014-10-01

    Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare monogenetic disorder that is characterized by severe abnormalities in ectoderm-derived tissues, such as skin and its appendages. A major cause of morbidity among affected infants is severe and chronic skin erosions. Currently, supportive care is the only available treatment option for AEC patients. Mutations in TP63, a gene that encodes key regulators of epidermal development, are the genetic cause of AEC. However, it is currently not clear how mutations in TP63 lead to the various defects seen in the patients' skin. In this review, we will discuss current knowledge of the AEC disease mechanism obtained by studying patient tissue and genetically engineered mouse models designed to mimic aspects of the disorder. We will then focus on new approaches to model AEC, including the use of patient cells and stem cell technology to replicate the disease in a human tissue culture model. The latter approach will advance our understanding of the disease and will allow for the development of new in vitro systems to identify drugs for the treatment of skin erosions in AEC patients. Further, the use of stem cell technology, in particular induced pluripotent stem cells (iPSC), will enable researchers to develop new therapeutic approaches to treat the disease using the patient's own cells (autologous keratinocyte transplantation) after correction of the disease-causing mutations. PMID:24665072

  18. The Relevance of HLA Sequencing in Population Genetics Studies

    PubMed Central

    Sanchez-Mazas, Alicia

    2014-01-01

    Next generation sequencing (NGS) is currently being adapted by different biotechnological platforms to the standard typing method for HLA polymorphism, the huge diversity of which makes this initiative particularly challenging. Boosting the molecular characterization of the HLA genes through efficient, rapid, and low-cost technologies is expected to amplify the success of tissue transplantation by enabling us to find donor-recipient matching for rare phenotypes. But the application of NGS technologies to the molecular mapping of the MHC region also anticipates essential changes in population genetic studies. Huge amounts of HLA sequence data will be available in the next years for different populations, with the potential to change our understanding of HLA variation in humans. In this review, we first explain how HLA sequencing allows a better assessment of the HLA diversity in human populations, taking also into account the methodological difficulties it introduces at the statistical level; secondly, we show how analyzing HLA sequence variation may improve our comprehension of population genetic relationships by facilitating the identification of demographic events that marked human evolution; finally, we discuss the interest of both HLA and genome-wide sequencing and genotyping in detecting functionally significant SNPs in the MHC region, the latter having also contributed to the makeup of the HLA molecular diversity observed today. PMID:25126587

  19. Transgenic animal models of neurodegeneration based on human genetic studies

    PubMed Central

    Richie, Christopher T.; Hoffer, Barry J.; Airavaara, Mikko

    2011-01-01

    The identification of genes linked to neurodegenerative diseases such as Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), Huntington's disease (HD) and Parkinson's disease (PD) has led to the development of animal models for studying mechanism and evaluating potential therapies. None of the transgenic models developed based on disease-associated genes have been able to fully recapitulate the behavioral and pathological features of the corresponding disease. However, there has been enormous progress made in identifying potential therapeutic targets and understanding some of the common mechanisms of neurodegeneration. In this review, we will discuss transgenic animal models for AD, ALS, HD and PD that are based on human genetic studies. All of the diseases discussed have active or complete clinical trials for experimental treatments that benefited from transgenic models of the disease. PMID:20931247

  20. A new dawn for genetic association studies in multiple sclerosis.

    PubMed

    Kantarci, Orhun H

    2016-08-01

    Before the genomics technology revolution allowed us to do genome-wide science, genetics research relied on our limited knowledge about a subject to generate hypothesis and candidate genes to study. Despite the level of naiveté, several associations with susceptibility to a complex disease such as multiple sclerosis (MS) were discovered. Of these, HLA-DRB1 and IL7R (1) stand out as being confirmed and refined early by the genome-wide association studies (GWAS) that followed.(2) Despite the expense and gargantuan efforts, these GWAS have successfully led to the discovery of more than 100 additional genes, albeit with smaller effect sizes, that contribute to MS susceptibility.(3) This list keeps growing, but it comes with no surprise that most of these genes identified the immune system as one large candidate for MS susceptibility. PMID:27540593

  1. Intestinal Parasitic Infections among Long-Term-Residents and Settled Immigrants in Qatar in the Period 2005 to 2011

    PubMed Central

    Abu-Madi, Marawan A.; Behnke, Jerzy M.; Doiphode, Sanjay H.

    2013-01-01

    The expanding economy of Qatar in the last two decades has attracted immigrants, often from countries with poor socio-economic levels. Many arrive with patent intestinal parasitic infections, and recent analyses have indicated consistently rising trends in the prevalence of some infections. Here, we examined 18,563 hospital records of subjects in Qatar seeking medical assistance for a variety of ailments, combining data from 2009 to 2011 with the earlier dataset from 2005 to 2008 to enable trends to be identified across a 7-year period. We found that 8.6% were infected with one or more species of parasites, however in contrast to the earlier period (2005–2008), in the latter 3 years there were falling trends of prevalence providing some optimism that parasitic infections among the resident immigrants have begun to decline. We identified also geographic regions from which resident workers still maintain a relatively high prevalence of helminth infections despite their long-term residence in Qatar. PMID:23478576

  2. The Qatar National Historic Environment Record: a Platform for the Development of a Fully-Integrated Cultural Heritage Management Application

    NASA Astrophysics Data System (ADS)

    Cuttler, R. T. H.; Tonner, T. W. W.; Al-Naimi, F. A.; Dingwall, L. M.; Al-Hemaidi, N.

    2013-07-01

    The development of the Qatar National Historic Environment Record (QNHER) by the Qatar Museums Authority and the University of Birmingham in 2008 was based on a customised, bilingual Access database and ArcGIS. While both platforms are stable and well supported, neither was designed for the documentation and retrieval of cultural heritage data. As a result it was decided to develop a custom application using Open Source code. The core module of this application is now completed and is orientated towards the storage and retrieval of geospatial heritage data for the curation of heritage assets. Based on MIDAS Heritage data standards and regionally relevant thesauri, it is a truly bilingual system. Significant attention has been paid to the user interface, which is userfriendly and intuitive. Based on a suite of web services and accessed through a web browser, the system makes full use of internet resources such as Google Maps and Bing Maps. The application avoids long term vendor ''tie-ins'' and as a fully integrated data management system, is now an important tool for both cultural resource managers and heritage researchers in Qatar.

  3. Genetic studies in relation to kuru: an overview.

    PubMed

    Goldfarb, L G; Cervenakova, L; Gajdusek, D C

    2004-06-01

    Kuru is a subacute neurodegenerative disease presenting with limb ataxia, dysarthria, and a shivering tremor. The disease progress to complete motor and mental incapacity and death within 6 to 24 months. Neuropathologically, a typical pattern of neuronal loss, astrocytic and microglial proliferation, characteristic "kuru-type" amyloid plaques, and PrP deposits in the cerebral cortex and cerebellum are observed. Kuru is the prototype of a group of human transmissible spongiform encephalopathies (TSEs), or "prion" diseases, that include hereditary, sporadic and infectious forms. The latest member of this group, the variant Creutzfeldt-Jakob disease (vCJD), linked to transmission of bovine spongiform encephalopathy (BSE) to humans, shows features similar to kuru. Kuru has emerged at the beginning of the 1900s in a small indigenous population of New-Guinean Eastern Highlands, reached epidemic proportions in the mid-1950s and disappeared progressively in the latter half of the century to complete absence at the end of the 1990s. Early studies made infection, the first etiologic assumption, seem unlikely and led to a hypothesis that kuru might be a genetically determined or genetically mediated illness. After transmissibility of kuru had been discovered and all major epidemiologic phenomena adequately explained by the spread of an infectious agent with long incubation period through the practice of cannibalism, the pattern of occurrence still continued to suggest a role for genetic predisposition. Recent studies indicate that individuals homozygous for Methionine at a polymorphic position 129 of the prion protein were preferentially affected during the kuru epidemic. The carriers of the alternative 129Met/Val and 129Val/Val genotypes had a longer incubation period and thus developed disease at a later age and at a later stage of the epidemic. Observations made during the kuru epidemic are helpful in the understanding of the current vCJD outbreak, and vice versa clinical

  4. Evolutionary triangulation: informing genetic association studies with evolutionary evidence.

    PubMed

    Huang, Minjun; Graham, Britney E; Zhang, Ge; Harder, Reed; Kodaman, Nuri; Moore, Jason H; Muglia, Louis; Williams, Scott M

    2016-01-01

    Genetic studies of human diseases have identified many variants associated with pathogenesis and severity. However, most studies have used only statistical association to assess putative relationships to disease, and ignored other factors for evaluation. For example, evolution is a factor that has shaped disease risk, changing allele frequencies as human populations migrated into and inhabited new environments. Since many common variants differ among populations in frequency, as does disease prevalence, we hypothesized that patterns of disease and population structure, taken together, will inform association studies. Thus, the population distributions of allelic risk variants should reflect the distributions of their associated diseases. Evolutionary Triangulation (ET) exploits this evolutionary differentiation by comparing population structure among three populations with variable patterns of disease prevalence. By selecting populations based on patterns where two have similar rates of disease that differ substantially from a third, we performed a proof of principle analysis for this method. We examined three disease phenotypes, lactase persistence, melanoma, and Type 2 diabetes mellitus. We show that for lactase persistence, a phenotype with a simple genetic architecture, ET identifies the key gene, lactase. For melanoma, ET identifies several genes associated with this disease and/or phenotypes related to it, such as skin color genes. ET was less obviously successful for Type 2 diabetes mellitus, perhaps because of the small effect sizes in known risk loci and recent environmental changes that have altered disease risk. Alternatively, ET may have revealed new genes involved in conferring disease risk for diabetes that did not meet nominal GWAS significance thresholds. We also compared ET to another method used to filter for phenotype associated genes, population branch statistic (PBS), and show that ET performs better in identifying genes known to associate with

  5. Genetic Influence on the Variance in Coincidence Timing and Its Covariance with IQ: A Twin Study.

    ERIC Educational Resources Information Center

    Wright, Margaret J.; Smith, Glen A.; Geffen, Gina M.; Geffen, Laurie B.; Martin, Nicholas G.

    2000-01-01

    Studied whether genetic variability explained some of the variance in coincidence timing and whether common genetic factors accounted for the association with intellectual functioning using 55 pairs of 16-year-old twins. Results suggest that the genetic influence operating on coincidence timing skills was of similar magnitude to that of response…

  6. Genome-wide association study of swine farrowing traits. Part I: Genetic and genomic parameter estimates

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The primary objective of this study was to determine genetic and genomic parameters among swine farrowing traits. Genetic parameters were obtained by using MTDFREML and genomic parameters were obtained using GenSel. Genetic and residual variances obtained from MTDFREML were used as priors for the ...

  7. Blinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies.

    PubMed

    Greenberg, David A; Subaran, Ryan

    2011-01-01

    Although it is accepted that idiopathic generalized epilepsy (IGE) is strongly, if not exclusively, influenced by genetic factors, there is little consensus on what those genetic influences may be, except for one point of agreement: epilepsy is a "channelopathy." This point of agreement has continued despite the failure of studies investigating channel genes to demonstrate the primacy of their influence on IGE expression. The belief is sufficiently entrenched that the more important issues involving phenotype definition, data collection, methods of analysis, and the interpretation of results have become subordinate to it. The goal of this article is to spark discussion of where the study of epilepsy genetics has been and where it is going, suggesting we may never get there if we continue on the current road. We use the long history of psychiatric genetic studies as a mirror and starting point to illustrate that only when we expand our outlook on how to study the genetics of the epilepsies, consider other mechanisms that could lead to epilepsy susceptibility, and, especially, focus on the critical problem of phenotype definition, will the major influences on common epilepsy begin to be understood. PMID:21219301

  8. Genetic Studies on Diabetic Microvascular Complications: Focusing on Genome-Wide Association Studies

    PubMed Central

    Kwak, Soo Heon

    2015-01-01

    Diabetes is a common metabolic disorder with a worldwide prevalence of 8.3% and is the leading cause of visual loss, end-stage renal disease and amputation. Recently, genome-wide association studies (GWASs) have identified genetic risk factors for diabetic microvascular complications of retinopathy, nephropathy, and neuropathy. We summarized the recent findings of GWASs on diabetic microvascular complications and highlighted the challenges and our opinion on future directives. Five GWASs were conducted on diabetic retinopathy, nine on nephropathy, and one on neuropathic pain. The majority of recent GWASs were underpowered and heterogeneous in terms of study design, inclusion criteria and phenotype definition. Therefore, few reached the genome-wide significance threshold and the findings were inconsistent across the studies. Recent GWASs provided novel information on genetic risk factors and the possible pathophysiology of diabetic microvascular complications. However, further collaborative efforts to standardize phenotype definition and increase sample size are necessary for successful genetic studies on diabetic microvascular complications. PMID:26194074

  9. Population genetic studies in the genomic sequencing era

    PubMed Central

    CHEN, Hua

    2015-01-01

    Recent advances in high-throughput sequencing technologies have revolutionized the field of population genetics. Data now routinely contain genomic level polymorphism information, and the low cost of DNA sequencing enables researchers to investigate tens of thousands of subjects at a time. This provides an unprecedented opportunity to address fundamental evolutionary questions, while posing challenges on traditional population genetic theories and methods. This review provides an overview of the recent methodological developments in the field of population genetics, specifically methods used to infer ancient population history and investigate natural selection using large-sample, large-scale genetic data. Several open questions are also discussed at the end of the review. PMID:26228473

  10. Association of genetic variants with hypertension in a longitudinal population-based genetic epidemiological study

    PubMed Central

    YAMADA, YOSHIJI; MATSUI, KOTA; TAKEUCHI, ICHIRO; OGURI, MITSUTOSHI; FUJIMAKI, TETSUO

    2015-01-01

    We previously identified 9 genes and chromosomal region 3q28 as susceptibility loci for Japanese patients with myocardial infarction, ischemic stroke, or chronic kidney disease by genome-wide or candidate gene association studies. In the present study, we investigated the possible association of 13 single nucleotide polymorphisms (SNPs) at these 10 loci with the prevalence of hypertension or their association with blood pressure (BP) in community-dwelling individuals in Japan. The study subjects comprised 6,027 individuals (2,250 subjects with essential hypertension, 3,777 controls) who were recruited into the Inabe Health and Longevity Study, a longitudinal genetic epidemiological study on atherosclerotic, cardiovascular and metabolic diseases. The subjects were recruited from individuals who visited the Health Care Center of Inabe General Hospital for an annual health checkup, and they are followed up each year (mean follow-up period, 5 years). Longitudinal analysis with a generalized estimating equation and with adjustment for age, gender, body mass index and smoking status revealed that rs2116519 of family with sequence similarity 78, member B (FAM78B; P=0.0266), rs6929846 of butyrophilin, subfamily 2, member A1 (BTN2A1; P= 0.0013), rs146021107 of pancreatic and duodenal homeobox 1 (PDX1; P=0.0031) and rs1671021 of lethal giant larvae homolog 2 (Drosophila) (LLGL2; P=0.0372) were significantly (P<0.05) associated with the prevalence of hypertension. Longitudinal analysis with a generalized linear mixed-effect model and with adjustment for age, gender, body mass index and smoking status among individuals not taking anti-hypertensive medication revealed that rs6929846 of BTN2A1 was significantly associated with systolic (P=0.0017), diastolic (P=0.0008) and mean (P=0.0005) BP, and that rs2116519 of FAM78B, rs146021107 of PDX1 and rs1671021 of LLGL2 were significantly associated with diastolic (P=0.0495), systolic (P=0.0132), and both diastolic (P=0.0468) and mean