Newborn haemoglobinopathy carrier screening: Towards comprehensive

May 31, 2018 | Author: Anonymous | Category: Science, Environmental Science, Marine Biology
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Newborn haemoglobinopathy carrier screening: Towards comprehensive and improved patient care of Sickle Cell Disease in Oman

Project Code: Funds: Funding Source: Start Date: Duration: Team Members: Researchers

(SR/MED/HAEM/05/01) 93,700 OMR His Majesty’s Trust Fund 02 May 2005 3 years Research Assistants

Dr. Salam Salim Al-kindi (P.I.) Ms.Fakhriya Khamis Harith Tobi Dr. Anil Pathare (Co-P.I.) Ms.Yusra Yousef Al Balushi Dr. Ali Ahmed Al Madhani Ms. Rhea Misquith Dr. Shahina Daar Dr. David Dennison Dr. Mariam Mathew Dr. Mathew Zachariah Dr. Rajagopal Krishnamoorthy Mr. Shoaib Abdulrahman Al Zadjali Mr. Hamood Mohammed Al Haddabi Ms.Qamaria Nasser Al Abri Mr. David Gravell Ms.Sahima Salim Al Mamaari

Graduate Students Mr. Ahmed Salim Al-Ofi Mr. Sultan Mohamed Al-Lawati Mr. Ibrahim Mohammed Al-Nabhani

Executive Summary Objectives: To establish a systematic and accurate statistical estimate of hemoglobin disorders in the country and contribute to the control and prevention programs for Sickle Cell Disease and thereby to reduce the infant morbidity and mortality, which in turn will have tremendous positive impact on national health and human resources of the country. In addition our aim was to forecast the future hemoglobinopathy burden on health resources in order to provide a framework to the planning authorities. Methods: Hemoglobinopathies are quite common in ethnically diverse Omani subjects and represent a major public health concern. In such context, disease-oriented specific prevention and control programs are mandatory and particularly relevant in the context of high consanguinity rate in this population. So far, no systematic screening has been carried out in this population to evaluate the rate of incidence of hemoglobinopathies. At this end, we initiated a pilot prospective neonatal screening over a period of 2 years in two major cities of Oman. This study was conducted under the auspices of the National Neonatal screening programme initiated in 2005. The study was approved by the Institutional review board and conformed to the Universal code of Helsinki. Results: Consecutive cord blood samples from a total of 7837 neonates (encompassing 6317 neonates in a period of one year from the selected two centers) were analyzed for complete blood counts [CBC] and for hemoglobin profile by high performance liquid chromatography [HPLC]. There were 3633 samples (46.3%) with normal HPLC profile [with only HbA (above 10%) and HbF] and 3433 samples with Hb

Barts in addition to HbA and HbF. A total of 206 samples (130 without Hb Barts and 76 with Hb Barts) had HbA less than 10% suggesting the possibility of an associated β-thalassemia. The remaining 565 samples (277 without Hb Barts and 288 with Hb Barts) showed the presence of one of the βhemoglobin variants namely HbS, HbD, HbE and HbC. No case with HbH was detected. Conclusions: We observed that the overall incidence of α-thalassemia was 48.5% with 9.8% [n= 771] of beta globinrelated abnormality, of which 4.8% had sickle cell trait, 0.3% had Sickle cell disease and 2.6% showed β-thalassemic trait. In addition to assessing the rate of incidence and pattern of hemoglobinopathies, this is the first large neonatal screening to establish reference ranges of cord red blood cell indices for the Omani neonates.

Value-Added Marine Raw Materials and Health Project Code: Funds: Funding Source: Start Date: Duration: Team Members:

(SR/AGR/FOOD/05/01) 150,000 OMR His Majesty’s Trust Fund 02 May 2005 4 years

Researchers Prof. Bassam Harry Soussi (P.I.) Prof. Lamk Mohammed Al-Lamki Dr. Nadiya Abubakar Al-Saady Dr. Mohammed Shafiur Rahman Dr. Stephen James Goddard Dr. Nejib Saleh Guizani Dr. Amanat Ali Dr. Ahmed Hareb Al-Hosni Dr. Ahmed Ali Al-Alawi Dr. Rajeev Jain Dr. Sergey Dobretsov Dr. Mostafa Ibrahim Waly Post Doc Dr. Ahmed Abbas Khan

Research Assistants Mr. Nabil Mohammed Al-Mohtasib Mr. Mohammed Hamad Al-Rizeiqi Mr. Jamal Nasser Al-Sabahi Mrs. Aisha Ahmed Ambu Ali Mrs. Insaaf Mohammed Al-Marhubi Mrs. Raya Nasser Al-Malki Mr. Sulaiman Salim Al-Shuaily Mr. Khamis Ahmed Al-Riyami Mr. Nasar Khalfan Al-Jardani Mr. Ali Masoud Al-Subhi

Graduate Students Mr. Mohammed Said Al-Belushi Mrs. Fatma Mohammed Al-Hinai Ms. Betsy Merin Joseph Mrs. Nisha Sharma Ms. Mahfoudah Mousa Al-Belushi Ms. Eiman Salim Al-Haajri Ms. Ibtisam Abdullah Al-Nofli

M.Sc. Students Mr. Ahmed Said Al-Souti Ms. Aisha Salim Al-Wahaibi Mr. Said Sultan Al-Busaidi Ms. Ruqaya Moosa Al-Belushi Ms. Laila Salim Al-Naamani Mrs. Dalilah Homood Al-Bahri

Executive Summary Objectives: This multidisciplinary research project is performed at Sultan Qaboos University, in collaboration with the Ministry of Fisheries Wealth. It links food science and medical science, with marine biotechnology. An already established international collaboration facilitates and ensures technology transfer. The overall objective is to create an integrated research program in valueadded marine raw materials for health in Oman. The aims of the program, that consists of eight subprojects, are to study bioactive compounds in marine raw materials from molecule to man with focus on health. Methods: Traditional and new tools for measurements are used. In vivo studies are based on mouse models combined with state-of-the-art whole body high resolution Magnetic Resonance Spectroscopy and Imaging, MRS/MRI investigations. Marine organisms ranging from bacteria, algae, corals, sea cucumber and sponges to fish were collected and extracted. In brief, screening for bioactive compounds was performed using HPLC, GC-MS, NMR, spectrophotometry, bioassays and human cell culture models. Samples of invertebrates were collected from Bandar

Khayran, Diminiyat and Salalah. Tanks for small scale aquaculture experiments were built. A dedicated laboratory infrastructure was developed and new techniques were implemented. Key issues: (1) Quality, (2) Safety, (3) Human nutrition (4) Evaluation of novel candidate substances and their mechanisms of action. Results:  Development of a new model system for detection of antioxidant activity of marine extracts in human monocytes.  Investigation of kingfish and hamour, by in vivo Magnetic Resonance Imaging noninvasively, yielded clear images separating fat components from muscle and non-fat components.  Development of strategies for manipulation of the quantity and quality of fatty acid content in farmed tilapia. Development of a method for extraction of high grade carrageenan from Omani seaweeds.  Determination of thermal transition behaviour and water sorption behaviour of whole Omani kingfish muscles and its protein fractions. The results obtained are fundamental information that allows studying the stability of fatty acids and other active nutritional components present in fish.  Discovery of a potential antioxidant component in the aqueous phase of a fish species. This experimental evidence is published in the prestigious Journal of the American Chemical Society: Journal of Agricultural and Food Science.  Discovery that Singlet Oxygen Energy laser irradiation of human monocytes decreases the generation of harmful reactive oxygen species and releases Nitric Oxide. This important finding is published in Lasers in Medical Science.  Development and application of a non-invasive determination of fish fat composition using in vivo Magnetic Resonance Imaging and image analysis techniques.  Bacteria isolated from seawater collected from different places in Oman showed high salt tolerance. One bacterial strain could be a potential source of bioremediation.  Screening of soft coral marine natural products in Bandar Al-Khayran area showed potential of Omani soft corals as a source of biologically active natural compounds. Some extracts showed considerable antifouling and antimicrobial activity that can be used in the industry.  The results are published in International scientific journals and have been presented at conferences and are subject of a number of M.Sc. theses.  Dissemination of information to the public was made through articles in local bilingual newspapers and forums.  As a whole: increased awareness about Marine Biotechnology and Functional Foods in the Sultanate as key areas for socio-economical growth. Conclusions: This project has provided an integrated research program in marine biotechnology for the first time at SQU with substantial technology transfer, capacity building and training. An important outcome of the project for the Sultanate of Oman: A major feasibility study has been carried out for the establishment of a National Center for Marine Biotechnology dedicated to value added marine raw materials and health. The initiative is in collaboration with the Ministry of Commerce and Industry, the Ministry of Fisheries Wealth, The Research Council and international investors. The latter are ready to invest in Oman in the very topics of this project.

Postharvest Technology to Reduce Losses and Improve Quality and Supply of Fresh Produce in Oman

Project Code: Funds: Funding Source: Start Date: Duration: Team Members:

(SR/AGR/BIOR/05/01) 80,950 OMR His Majesty’s Trust Fund 02 May 2005 4 years

Researchers Dr. Linus Opara Prof. Shafiur Rahman HH Dr. Fahad AlJulanda Al-Said Dr. Rashid Abdullah Al-Yahyai Dr. Nadiya Abubaker Al-Saadi Mr. Mohamed Ali Al-Farsi Prof. Atsu Dorvlo Dr. Salam Salim Al-Kindi

Research Assistants Mr. Adel Abdullah Al-Mahdoury Mr. Mohd Hassan Mansour Mr. Ahmed Said Al-Ghafri Ms. Johka Ali Al-Issai Ms. Yusra Salim Al-Shuaibi Ms. Rabea Khair Al-Busaidi

Graduate Students Ms. Nadia Mohammed Al-Rahbi Ms. Nafla Saim Al-Wailli Ms. Najma Mansoor Al-Kindi Ms. Muna Humaid Al-Harthi Ms. Fathiya Mohammed Al-Belushi Ms. Fatma Darwish Al-Jabri

Executive Summary Objectives Oman has high incidence of losses, inconsistent quality and low economic value of local agricultural products compared with similar imported goods. There is a need to apply innovative postharvest technologies to address these problems. This project aimed to evaluate the postharvest losses in the supply chain, and to determine its nutritional and genetic characteristics. Methods In the first phase, a supply chain analysis was applied to the preliminary survey data on fresh produce losses at different handling stages in the food supply chain. In the second phase the critical sensory quality attributes of selected fresh products, which are important to the omani consumers, were determined thru questionnaire. The third phase was conducted by determining nutritional contents and health functionality of selected local products. In addition, DNA fingerprint of banana varieties grown in the southern areas of Oman was determined using Amplified Fragment Length Polymorphism (AFLP). Results Total postharvest loss in Oman is high and varied from 32 to 46%, depending on the specific supply chain. The most influential quality attributes affecting consumer purchase were flavor, sweetness, and color for banana and date; and flavor, sweetness, and firmness for apple, mango and orange. Selected health beneficial nutrients contents in the local banana, tomato and pomegranate were significantly higher than imported ones. The unique alleles obtained by DNA fingerprint for each of local banana variety can be used for variety identification and matching between the mother and tissue cultured plants. Conclusions Incidence of postharvest loss is high in Oman and occurs at all stages in the supply chain. Integrated efforts are required to develop improved postharvest handling infrastructure near

production areas (farms) and markets. The nutritional and health functionality of local products should be publicized to secure competitive price.

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