13 results on '"Brincat, Ian"'
Search Results
2. High Population Frequency of GNRHR p.Q106R in Malta: An Evaluation of Fertility and Hormone Profiles in Heterozygotes.
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Axiak, Clayton John, Pleven, Adrian, Attard, Ritienne, Carbott, Francesca Borg, Ebejer, Jean-Paul, Brincat, Ian, Cassar, Karen, Gruppetta, Mark, Vassallo, Josanne, Wettinger, Stephanie Bezzina, and Farrugia, Rosienne
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LUTEINIZING hormone releasing hormone receptors ,GENETIC carriers ,SEX hormones ,FERTILITY ,MYOCARDIAL infarction - Abstract
Context The gonadotropin-releasing hormone receptor variant GNRHR p.Q106R (rs104893836) in homozygosity, compound heterozygosity, or single heterozygosity is often reported as the causative variant in idiopathic hypogonadotropic hypogonadism (IHH) patients with GnRH deficiency. Genotyping of a Maltese newborn cord-blood collection yielded a minor allele frequency (MAF) 10 times higher (MAF = 0.029; n = 493) than that of the global population (MAF = 0.003). Objective To determine whether GNRHR p.Q106R in heterozygosity influences profiles of endogenous hormones belonging to the hypothalamic-pituitary axis and the onset of puberty and fertility in adult men (n = 739) and women (n = 239). Design, Setting, and Participants Analysis of questionnaire data relating to puberty and fertility, genotyping of the GNRHR p.Q106R variant, and hormone profiling of a highly phenotyped Maltese adult cohort from the Maltese Acute Myocardial Infarction Study. Main Outcome and Results Out of 978 adults, 43 GNRHR p.Q106R heterozygotes (26 men and 17 women) were identified. Hormone levels and fertility for all heterozygotes are within normal parameters except for TSH, which was lower in men 50 years or older. Conclusion Hormone data and baseline fertility characteristics of GNRHR p.Q106R heterozygotes are comparable to those of homozygous wild-type individuals who have no reproductive problems. The heterozygous genotype alone does not impair the levels of investigated gonadotropins and sex steroid hormones or affect fertility. GNRHR p.Q106R heterozygotes who exhibit IHH characteristics must have at least another variant, probably in a different IHH gene, that drives pathogenicity. We also conclude that GNRHR p.Q106R is likely a founder variant due to its overrepresentation and prevalence in the island population of Malta. [ABSTRACT FROM AUTHOR]
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- 2024
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3. Hypothyroidism and perchlorate: an ecological study of hypothyroidism in the Maltese Islands.
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Cardona, Tania, Brincat, Ian, Calleja, Neville, and Debono, Roberto
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HYPOTHYROIDISM , *ISLANDS - Abstract
Background One of the lesser-known comes of hypothyroidsm Is Perchlorate exposure. a by-product of legwork:. Recent; ludic in the Mehra island: showed increased concentrator, of perchlorate in dust fat leading to public concerns about as health effects. This study alms to exanSne the hypothyroidism trends In the resident Maltese population and assess for a ink with perchlorate exposure. Methods A retrospective ecological study using laboratory and population data was carried out to calculate the crude and direct age-standardised incidence rates of hypothymicrom in the resident population. Results Stginercanty lower overall age-standardised incidence rates for hypothyroidism were found In the region of Gozo: however no clearly climemitde geographical pattern of hypothyroidism with clear potential link to perchlorate exposure was found. Concluson The lower hypothyroid incidence rates n Gozo warrant a comparative study to establish whether that deference attributable to differing levels of perchlorate exposure from deferent scale of firework use. [ABSTRACT FROM AUTHOR]
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- 2024
4. Plasma Total Ascorbic Acid and Serum 25-Hydroxy-Vitamin-D Status in Patients with Venous Leg Ulcers: A Case–Control Study
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Agius, Charlton, primary, Micallef, Daniel, additional, Brincat, Ian, additional, Buhagiar, Gerald, additional, Gruppetta, Mark, additional, Cassar, Kevin, additional, and Boffa, Michael J., additional
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- 2021
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5. Comparison of approaches and measurement of continuing professional development for specialists in laboratory medicine within four European countries
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Martin, Jan, Gasljevic, Visnja, Šálek, Tomáš, Horvath, Attila, Borg, Charles, Flegar-Meštrić, Zlata, Jakovcic, Mladen, Silhavik, Josef, Adonics, Adrienn, Szlamka, Zsófia, Brincat, Ian, Buttigieg, Dorianne, Ciantar, Noel, Sciortino, Anna Lisa, Mifsud, Antoinette, Adkins, Alison, Bennett, Tracey, Rice, Kirstie, and Taylor, Yvette
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- 2015
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6. Regulatory landscape of providing information on newborn screening to parents across Europe
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Franková, Věra, Driscoll, Riona O., Jansen, Marleen E., Loeber, J. Gerard, Kožich, Viktor, Bonham, James, Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Fingerhut, Ralph, Kuš, Iva Bilandžija, Girginoudis, Panagiotis, Groselj, Urh, Hougaard, David, Knapková, Mária, la Marca, Giancarlo, Malniece, Ieva, Nanu, Michaela Iuliana, Nennstiel, Uta, Olkhovych, Nataliia, Oltarzewski, Mariusz, Pettersen, Rolf D., Racz, Gabor, Reinson, Karit, Salimbayeva, Damilya, Songailiene, Jurgita, Vilarinho, Laura, Vogazianos, Marios, Zetterström, Rolf H., Zeyda, Maximilian, Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee, CarMeN, laboratoire, First Faculty of Medicine Charles University [Prague], National Institute for Public Health and the Environment [Bilthoven] (RIVM), International Society for Neonatal Screening Office [Bilthoven, The Netherlands] (ISNSO), Sheffield Children's NHS Foundation Trust, Mater Dei Hospital [Malta], Hospices Civils de Lyon (HCL), University Children’s Hospital Zurich, University Hospital Centre Zagreb, Partenaires INRAE, Institute of Child Health [Athens, Greece], University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Statens Serum Institute [Copenhagen], Matej Bel University (UMB), Children's University Hospital [Banska Bystrica, Slovakia] (CUH-BB), Azienda Ospedaliero Universitaria A. Meyer [Firenze, Italy], Children's Clinical University Hospital [Riga, Latvia] (CCUH), National Institute for Mother & Child Health [Bucharest, Romania] (NIMCH), Bavarian Health and Food Safety Authority [Oberschleißheim, Germany], National Children's Specialized Hospital 'Okhmatdyt' [Kiev, Ukraine] (NCSHO), National Research Institute of Mother and Child [Warsaw, Poland], Oslo University Hospital [Oslo], University of Szeged [Szeged], Tartu University Hospital [Tartu, Estonia], Scientific centre of Gynaecology, Obstetrics and Perinatology [Almaty, Kazakhstan] (SGOP), International Science and Technology Center [Almaty, Kazakhstan] ( ISTC), Vilnius University [Vilnius], Instituto Nacional de Saùde Dr Ricardo Jorge [Portugal] (INSA), Limassol General Hospital, Karolinska University Hospital [Solna, Sweden] (KUH), Medizinische Universität Wien = Medical University of Vienna, Human genetics, and APH - Quality of Care
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Male ,Parents ,European level ,Best practice ,[SDV]Life Sciences [q-bio] ,MEDLINE ,Disclosure ,Guidelines ,Article ,Public healthcare ,03 medical and health sciences ,Neonatal Screening ,0302 clinical medicine ,Surveys and Questionnaires ,030225 pediatrics ,Genetics ,Humans ,European Union ,Genetic Testing ,030212 general & internal medicine ,Genetics (clinical) ,Medical education ,Newborn screening ,Infant, Newborn ,food and beverages ,Organizational Policy ,3. Good health ,Doenças Genéticas ,Europe ,[SDV] Life Sciences [q-bio] ,Practice Guidelines as Topic ,embryonic structures ,Female ,Sample collection ,Business ,Newborn Screening - Abstract
Newborn screening (NBS) is an important part of public healthcare systems in many countries. The provision of information to parents about NBS is now recognised as an integral part of the screening process. Informing parents on all aspects of screening helps to achieve the benefits, promote trust and foster support for NBS. Therefore, policies and guidelines should exist to govern how the information about NBS is provided to parents, taking into account evidence-based best practices. The purpose of our survey was to explore whether any legally binding provisions, guidelines or recommendations existed pertaining to the provision of information about NBS to parents across Europe. Questions were designed to determine the regulatory process of when, by whom and how parents should be informed about screening. Twenty-seven countries participated in the survey. The results indicated that most countries had some sort of legal framework or guidelines for the provision of information to parents. However, only 37% indicated that the provision of information was required prenatally. The majority of countries were verbally informing parents with the aid of written materials postnatally, just prior to sample collection. Information was provided by a neonatologist, midwife or nurse. A website dedicated to NBS was available for 67% of countries and 89% had written materials about NBS for parents. The survey showed that there is a lack of harmonisation among European countries in the provision of information about NBS and emphasised the need for more comprehensive guidelines at the European level. Institutional support was provided by projects LM2018132 from the Large Infrastructure Projects of the Czech Ministry of Education, PROGRES Q26 from Charles University and RVO VFN 64165 from the Ministry of Health, Czech Republic. Several authors of this publication are members of the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN)—Project ID No. 739543. info:eu-repo/semantics/publishedVersion
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- 2021
7. Current Status of Newborn Screening in Southeastern Europe
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Koracin, Vanesa, primary, Mlinaric, Matej, additional, Baric, Ivo, additional, Brincat, Ian, additional, Djordjevic, Maja, additional, Drole Torkar, Ana, additional, Fumic, Ksenija, additional, Kocova, Mirjana, additional, Milenkovic, Tatjana, additional, Moldovanu, Florentina, additional, Mulliqi Kotori, Vjosa, additional, Nanu, Michaela Iuliana, additional, Remec, Ziga Iztok, additional, Repic Lampret, Barbka, additional, Platis, Dimitrios, additional, Savov, Alexey, additional, Samardzic, Mira, additional, Suzic, Biljana, additional, Szatmari, Ildiko, additional, Toromanovic, Alma, additional, Zerjav Tansek, Mojca, additional, Battelino, Tadej, additional, and Groselj, Urh, additional
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- 2021
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8. Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
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Loeber, J. Gerard, primary, Platis, Dimitris, additional, Zetterström, Rolf H., additional, Almashanu, Shlomo, additional, Boemer, François, additional, Bonham, James R., additional, Borde, Patricia, additional, Brincat, Ian, additional, Cheillan, David, additional, Dekkers, Eugenie, additional, Dimitrov, Dobry, additional, Fingerhut, Ralph, additional, Franzson, Leifur, additional, Groselj, Urh, additional, Hougaard, David, additional, Knapkova, Maria, additional, Kocova, Mirjana, additional, Kotori, Vjosa, additional, Kozich, Viktor, additional, Kremezna, Anastasiia, additional, Kurkijärvi, Riikka, additional, La Marca, Giancarlo, additional, Mikelsaar, Ruth, additional, Milenkovic, Tatjana, additional, Mitkin, Vyacheslav, additional, Moldovanu, Florentina, additional, Ceglarek, Uta, additional, O'Grady, Loretta, additional, Oltarzewski, Mariusz, additional, Pettersen, Rolf D., additional, Ramadza, Danijela, additional, Salimbayeva, Damilya, additional, Samardzic, Mira, additional, Shamsiddinova, Markhabo, additional, Songailiené, Jurgita, additional, Szatmari, Ildiko, additional, Tabatadze, Nazi, additional, Tezel, Basak, additional, Toromanovic, Alma, additional, Tovmasyan, Irina, additional, Usurelu, Natalia, additional, Vevere, Parsla, additional, Vilarinho, Laura, additional, Vogazianos, Marios, additional, Yahyaoui, Raquel, additional, Zeyda, Maximilian, additional, and Schielen, Peter C.J.I., additional
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- 2021
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9. Newborn Screening for Sickle Cell Disease in Europe
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Daniel, Yvonne, primary, Elion, Jacques, additional, Allaf, Bichr, additional, Badens, Catherine, additional, Bouva, Marelle, additional, Brincat, Ian, additional, Cela, Elena, additional, Coppinger, Cathy, additional, Montalembert, Mariane, additional, Gulbis, Béatrice, additional, Henthorn, Joan, additional, Ketelslegers, Olivier, additional, McMahon, Corrina, additional, Streetly, Allison, additional, Colombatti, Raffaella, additional, and Lobitz, Stephan, additional
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- 2019
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10. The Risk from Anti-Thyroid Hormone Antibody Interference in Neonatal Congenital Hypothyroidism Screening
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Brincat, Ian, primary and Buhagiar, Gerald, additional
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- 2017
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11. Transnational Evaluation of a New Continuing Professional Development Activity for Biomedical Scientists Based on the International Organisation for Standardisation for Medical Laboratories ISO 15189
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Martin, Jan, Buttigieg, Dorianne, Silhavik, Josef, Flegar-Meštrić, Zlata, Adkins, Alison, Gasljevic, Visnja, Šálek, Tomáš, Horvath, Attila, Borg, Charles, Jakovcic, Mladen, Adonics, Adrienn, Szlamka, Zsófia, Brincat, Ian, Ciantar, Sciortino, Anna Lisa, Bennett, Tracey, Rice, Kirstie, and Taylor, Yvette
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continuing professional development ,training ,medical laboratory science ,biomedical scientist - Abstract
The European Union’s Lifelong Learning Leonardo Program awarded funding of over 100, 000 euros to a Leonardo Partnership project to facilitate the development of good practice in continuing professional development (CPD) for Biomedical Scientists. A series of high quality CPD activities along with an EU-toolkit are being developed by the project and will be made available to European hospital laboratories via the project website and Community of Practice. This paper reports on transnational evaluation of the second European CPD activity which is based on the International Organisation for Standardisation (ISO 15189) standard for Medical Laboratories. Biomedical Scientists from hospital laboratories in Croatia, Czech Republic, Malta and the United Kingdom took part in evaluation of the CPD activity by completion of an evaluation questionnaire and reflective learning sheet. The new CPD activity was exceptionally well received as scores of over 96% were acquired for useful and appropriateness to scope of practice, relevance to CPD, enhancement to scope of practice and enhancement to CPD. This CPD activity has successfully enhanced European Union Biomedical Scientist’s CPD as over 95% of participants rated the exercise as either good or excellent.
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- 2015
12. Enhance It - Enhancing Hospital Laboratory Standards for Continuing Professional Development: Transnational Evaluation of a Novel CPD Activity for Biomedical Scientists
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Martin, Jan, primary, Buttigieg, Dorianne, additional, Silhavik, Josef, additional, Flegar-Meštrić, Zlata, additional, Adkins, Alison, additional, Gasljevic, Visnja, additional, Šálek, Tomáš, additional, Horvath, Attila, additional, Borg, Charles, additional, Jakovcic, Mladen, additional, Adonics, Adrienn, additional, Szlamka, Zsófia, additional, Brincat, Ian, additional, Ciantar, Noel, additional, Lisa Sciortino, Anna, additional, Bennett, Tracey, additional, Rice, Kirstie, additional, and Taylor, Yvette, additional
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- 2014
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13. Regulatory landscape of providing information on newborn screening to parents across Europe.
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Franková V, Driscoll RO, Jansen ME, Loeber JG, Kožich V, Bonham J, Borde P, Brincat I, Cheillan D, Dekkers E, Fingerhut R, Kuš IB, Girginoudis P, Groselj U, Hougaard D, Knapková M, la Marca G, Malniece I, Nanu MI, Nennstiel U, Olkhovych N, Oltarzewski M, Pettersen RD, Racz G, Reinson K, Salimbayeva D, Songailiene J, Vilarinho L, Vogazianos M, Zetterström RH, and Zeyda M
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- Disclosure legislation & jurisprudence, European Union, Female, Genetic Testing legislation & jurisprudence, Genetic Testing standards, Humans, Infant, Newborn, Male, Neonatal Screening legislation & jurisprudence, Practice Guidelines as Topic, Surveys and Questionnaires, Disclosure standards, Neonatal Screening standards, Organizational Policy, Parents
- Abstract
Newborn screening (NBS) is an important part of public healthcare systems in many countries. The provision of information to parents about NBS is now recognised as an integral part of the screening process. Informing parents on all aspects of screening helps to achieve the benefits, promote trust and foster support for NBS. Therefore, policies and guidelines should exist to govern how the information about NBS is provided to parents, taking into account evidence-based best practices. The purpose of our survey was to explore whether any legally binding provisions, guidelines or recommendations existed pertaining to the provision of information about NBS to parents across Europe. Questions were designed to determine the regulatory process of when, by whom and how parents should be informed about screening. Twenty-seven countries participated in the survey. The results indicated that most countries had some sort of legal framework or guidelines for the provision of information to parents. However, only 37% indicated that the provision of information was required prenatally. The majority of countries were verbally informing parents with the aid of written materials postnatally, just prior to sample collection. Information was provided by a neonatologist, midwife or nurse. A website dedicated to NBS was available for 67% of countries and 89% had written materials about NBS for parents. The survey showed that there is a lack of harmonisation among European countries in the provision of information about NBS and emphasised the need for more comprehensive guidelines at the European level.
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- 2021
- Full Text
- View/download PDF
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