Article
Medical Laboratory Technology
Bichr Allaf, Corinne Pondarre, Slimane Allali, Mariane De Montalembert, Cecile Arnaud, Catherine Barrey, Malika Benkerrou, Patricia Benhaim, Philippe Bensaid, Valentine Brousse, Catherine Dollfus, Stephanie Eyssette-Guerreau, Frederic Galacteros, Vincent Gajdos, Nathalie Garrec, Cecile Guillaumat, Corinne Guitton, Marie Monfort-Gouraud, Francois Gouraud, Laurent Holvoet, Ghislaine Ithier, Annie Kamdem, Berengere Koehl, Aurore Malric, Florence Missud, Brigitte Monier, Marie-Helene Odievre, Philippe Joly, Celine Renoux, Franck Patin, Serge Pissard, Nathalie Couque
Summary: Newborn screening for beta-thalassemia based on HbA expression in multiples of the normal (MoM) showed a sensitivity of 100% and a specificity of 95.3% for the threshold of HbA <= 0.16 MoM, regardless of gestational age. The study identified 84 suspected cases of beta-thalassemia, with 14 confirmed as beta-thalassemia diseases, 37 as beta-thalassemia trait, and 13 as false positives. Using a single robust threshold like HbA <= 0.16 MoM proved to be effective in screening for beta-thalassemia diseases and carriers.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2021)
Article
Medicine, General & Internal
Richard A. Schreiber, Sanjiv Harpavat, Jan B. F. Hulscher, Barbara E. Wildhaber
Summary: Biliary atresia is a rare newborn liver disease that can have significant health implications for infants, but timely surgical intervention can improve prognosis. However, delayed diagnosis and untimely surgery remain a major problem worldwide. This article explores biliary atresia from a global public health perspective, including its epidemiology, the impact of national screening programs, and new screening initiatives. Furthermore, the challenges of implementing screening programs are discussed.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Public, Environmental & Occupational Health
Gerald Tegha, Hillary M. Topazian, Portia Kamthunzi, Thad Howard, Zondwayo Tembo, Tisungane Mvalo, Nelecy Chome, Wiza Kumwenda, Tawonga Mkochi, Arielle Hernandez, Kenneth Ataga, Irving F. Hoffman, Russell E. Ware
Summary: In Central Malawi, genetic blood disorders are common, and screening newborns can help identify these disorders early, improving clinical outcomes.
INTERNATIONAL JOURNAL OF PUBLIC HEALTH
(2021)
Article
Oncology
Catherine I. Segbefia, Bamenla Goka, Jennifer Welbeck, Kokou Amegan-Aho, Diana Dwuma-Badu, Sudha Rao, Nihad Salifu, Samuel A. Oppong, Eric Odei, Kwaku Ohene-Frempong, Isaac Odame
Summary: Implementing SCD NBS program in Ghana's largest public hospital faced challenges such as shortage of nursing staff, screening supplies, and delays in receiving results. Strategies were incorporated to overcome these challenges and increase screening coverage to 83.7%.
PEDIATRIC BLOOD & CANCER
(2021)
Article
Genetics & Heredity
Chinwe O. Okeke, Reuben I. Chianumba, Hezekiah Isa, Samuel Asala, Obiageli E. Nnodu
Summary: Using dried blood spots on HemoTypeSC for sickle cell disease testing is as accurate as the standard point-of-care test. The use of dried blood spots can improve the efficiency and cost-effectiveness of mass newborn screening for SCD.
FRONTIERS IN GENETICS
(2022)
Review
Genetics & Heredity
Kee Chan, Amy Brower, Marc S. Williams
Summary: This paper explores four factors that delay and complicate the expansion of newborn screening and suggests the use of models to evaluate changes and improvements. The results indicate that there is at least one model that can be applied to each factor.
FRONTIERS IN GENETICS
(2022)
Article
Hematology
Peter Olupot-Olupot, Roisin Connon, Sarah Kiguli, Robert O. Opoka, Florence Alaroker, Sophie Uyoga, Margret Nakuya, William Okiror, Julius Nteziyaremye, Tonny Ssenyondo, Eva Nabawanuka, Juliana Kayaga, Cynthia Williams Mukisa, Denis Amorut, Rita Muhindo, Gary Frost, Kevin Walsh, Alexander W. Macharia, Diana M. Gibb, A. Sarah Walker, Elizabeth C. George, Kathryn Maitland, Thomas N. Williams
Summary: Sickle cell anemia is common in sub-Saharan Africa, and a trial in Uganda and Malawi found that 12% of children had known sickle cell anemia and 17% had unknown sickle cell anemia. Children with sickle cell anemia showed better outcomes in various indicators.
AMERICAN JOURNAL OF HEMATOLOGY
(2022)
Article
Hematology
Michael J. Eckrich, Haydar Frangoul
Summary: Sickle cell disease and transfusion dependent beta thalassemia are associated with high morbidity and shortened life expectancy. Allogeneic transplantation remains the only curative option, but finding fully matched related donors is difficult. However, recent advances in ex vivo gene therapy and genome editing offer new and promising therapeutic options.
SEMINARS IN HEMATOLOGY
(2023)
Article
Hematology
Aldiouma Guindo, Zenab Cisse, Ibrahima Keita, Sophie Desmonde, Yeya dit Sadio Sarro, Boubacari A. Toure, Mohamed Ag Baraika, Oumarou Tessougue, Pierre Guindo, Moussa Coulibaly, Oumar Traore, Niagale Sylla, Mahamadou Diassana, Amaguire Saye, Valentina Picot, Emilie Lauressergues, Valeriane Leroy
Summary: This study assessed the acceptability and diagnostic performances of two rapid diagnostic tests for sickle cell disease (SCD) newborn screening in Mali. The results showed that both tests had reliable diagnostic performances to exclude SCD-free newborns and identify SCD carriers. The study suggests that this strategy could be implemented in large-scale newborn screening programs.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Medicine, General & Internal
Lisa M. Shook, Deidra Haygood, Charles T. Quinn
Summary: Newborn screening for sickle cell disease requires genetic testing to ensure accurate diagnosis and treatment. Molecular genetic testing is crucial for distinguishing SCA from conditions like HbS/HPFH.
FRONTIERS IN MEDICINE
(2021)
Article
Public, Environmental & Occupational Health
Arielle G. Hernandez, Charles Kiyaga, Thad A. Howard, Isaac Ssewanyana, Grace Ndeezi, Jane R. Aceng, Russell E. Ware
Summary: This study in Uganda revealed a high national burden of sickle cell disease, with a particular focus on high-burden districts where targeted screening efforts were successful in identifying affected children. The majority of children were screened before 4 months, but a higher proportion of affected children in the sickle-specific cohort were tested between 5-9 months, coinciding with disease onset. Successful screening strategies in Uganda show promise for universal screening goals.
TROPICAL MEDICINE & INTERNATIONAL HEALTH
(2021)
Article
Hematology
Chibuzo J. J. Aguwa, Alicia D. D. Cannon, James F. F. Casella, Bruce K. K. Shapiro, Eboni I. I. Lance
Summary: Despite the availability of developmental screening guidelines, children with sickle cell disease (SCD) are not receiving regular and appropriate screening for neurodevelopmental disorders (NDDs). Many children are screened outside the recommended ages, and there is a lack of autism-specific screening.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Pediatrics
Sara M. Andrews, Katherine Ackerman Porter, Donald B. Bailey, Holly L. Peay
Summary: This study aims to assess and address the challenges facing the newborn screening (NBS) system in the United States and propose modernization solutions. The results from surveys and panel discussions highlight important challenges such as missing data for decision-making, burden on state laboratories, and the time needed for screening new conditions. The discussions emphasize the importance of infant well-being, the impact of transformative therapies on screening capacity, and the need for collaboration in modernization.
Article
Hematology
Namita Kumari, Mehdi Nouraie, Asrar Ahmad, Hatajai Lassiter, Javed Khan, Sharmin Diaz, Nowah Afangbedji, Songping Wang, Patricia E. Houston, Tatiana Ammosova, Miguel de Mulder Rougvie, Sohail Rana, Douglas F. Nixon, Kathryn Anastos, Jason Lazar, Audrey L. French, Stephen Gange, Adaora A. Adimora, M. Neale Weitzmann, Margaret Fischl, Mirjam-Colette Kempf, Seble Kassaye, James G. Taylor, Sergei Nekhai
Summary: Individuals with sickle cell trait (SCT) exhibit a restriction of HIV-1 infection characterized by higher levels of HO-1 and lower levels of HIV-1 replication. This suggests that factors like HO-1 and RNR2 may limit HIV-1 pathogenicity among those with SCT.
Article
Genetics & Heredity
Shlomit Ezer, Shachar Zuckerman, Reeval Segel, Joel Zlotogora
Summary: Infantile Krabbe disease is relatively frequent in two Muslim villages within Jerusalem, triggering a carrier screening program in Israel. This program helps prevent the birth of infants with Krabbe disease and establishing a genetic clinic in the villages may enhance the effectiveness of the program.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Medicine, General & Internal
Assaf P. Oron, Dennis L. Chao, Echezona E. Ezeanolue, Loveth N. Ezenwa, Frederic B. Piel, Osifo Telison Ojogun, Sophie Uyoga, Thomas N. Williams, Obiageli E. Nnodu
Article
Public, Environmental & Occupational Health
Ulf Stromberg, Brandon L. Parkes, Anders Holmen, Stefan Peterson, Erik Holmberg, Amir Baigi, Frederic B. Piel
EUROPEAN JOURNAL OF EPIDEMIOLOGY
(2020)
Article
Public, Environmental & Occupational Health
Frederic B. Piel, Daniela Fecht, Susan Hodgson, Marta Blangiardo, M. Toledano, A. L. Hansell, Paul Elliott
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
(2020)
Article
Public, Environmental & Occupational Health
Susan Hodgson, Daniela Fecht, John Gulliver, Hima Iyathooray Daby, Frederic B. Piel, Fuyuen Yip, Heather Strosnider, Anna Hansell, Paul Elliott
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
(2020)
Article
Public, Environmental & Occupational Health
Frederic B. Piel, Samantha Cockings
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
(2020)
Article
Public, Environmental & Occupational Health
Frederic B. Piel, Brandon Parkes, Peter Hambly, Aina Roca-Barcelo, Martin McCallion, Giovanni Leonardi, Heather Strosnider, Fuyuen Yip, Paul Elliott, Anna L. Hansell
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
(2020)
Article
Public, Environmental & Occupational Health
Daniela Fecht, Samantha Cockings, Susan Hodgson, Frederic B. Piel, David Martin, Lance A. Waller
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
(2020)
Article
Public, Environmental & Occupational Health
Marta Blangiardo, Areti Boulieri, Peter Diggle, Frederic B. Piel, Gavin Shaddick, Paul Elliott
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
(2020)
Article
Public, Environmental & Occupational Health
Aina Roca-Barcelo, Helen Crabbe, Rebecca Ghosh, Anna Freni-Sterrantino, Tony Fletcher, Giovanni Leonardi, Courtney Hoge, Anna L. Hansell, Frederic B. Piel
PREVENTIVE MEDICINE
(2020)
Article
Biochemistry & Molecular Biology
Melanie Egli, Alicia Hartmann, Helena Rapp Wright, Keng Tiong Ng, Frederic B. Piel, Leon P. Barron
Summary: The study introduces a rapid direct-injection liquid chromatography-tandem mass spectrometry method for the quantitative determination of 102 emerging concern chemicals in river water, revealing concentration differences across different rivers and assessing the potential risks posed by these CECs to the environment.
Article
Environmental Sciences
Muhammad Saleem Khan, Philippa Douglas, Anna L. Hansell, Nicholas J. Simmonds, Frederic B. Piel
Summary: This novel national study found that adults with cystic fibrosis living near composting sites may experience reductions in lung function, increased risk of pulmonary exacerbations, and more frequent fungal infections. These results could have important implications for the living environment of cystic fibrosis patients.
ENVIRONMENTAL HEALTH
(2022)
Article
Medicine, General & Internal
Dennis L. Chao, Assaf P. Oron, Guillaume Chabot-Couture, Alayo Sopekan, Uche Nnebe-Agumadu, Imelda Bates, Frederic B. Piel, Obiageli Nnodu
Summary: This study estimated the contribution of malaria and sickle cell disease to anemia among children aged 6-59 months in Nigeria using data from the 2018 Demographic and Health Survey. The results showed that the majority of severe anemia was attributable to malaria, and sickle cell disease had a protective effect against anemia.
Article
Public, Environmental & Occupational Health
Brandon Parkes, Massimo Stafoggia, Daniela Fecht, Bethan Davies, Carl Bonander, Francesca De' Donato, Paola Michelozzi, Frederic B. Piel, Ulf Stroemberg, Marta Blangiardo
Summary: Research analyzes the variations in excess mortality within communities in England, Italy, and Sweden during the first year of the pandemic. The study finds that deprivation and overcrowding are strong predictors of excess mortality across the three countries.
EUROPEAN JOURNAL OF PUBLIC HEALTH
(2023)
Article
Environmental Sciences
Melanie Egli, Helena Rapp-Wright, Olukemi Oloyede, William Francis, Rhys Preston-Allen, Stav Friedman, Guy Woodward, Frederic B. Piel, Leon P. Barron
Summary: The SARS-CoV-2 pandemic had significant impacts on urban river ecosystems in Greater London, leading to changes in occurrence and risks of emerging contaminants. The study used advanced methods to analyze a large number of samples and identified pharmaceutical contaminants in the waterways. The findings provide valuable insights into the effects of the pandemic on urban river ecosystems and highlight the importance of monitoring and addressing contamination risks.
ENVIRONMENT INTERNATIONAL
(2023)
Article
Hematology
Obiageli E. Nnodu, Alayo Sopekan, Fiche Nnebe-Agumadu, Chinatu Ohiaeri, Adeyemi Adeniran, Grace Shedul, Hezekiah A. Isa, Olumide Owolabi, Reuben I. Chianumba, Yohanna Tanko, Juliet H. Iyobosa, Adekunle D. Adekile, Olufunmilayo I. Olapade, Frederic B. Piel
LANCET HAEMATOLOGY
(2020)
Article
Oncology
Toma S. Omofoye, Anganile Kalinga, Ramapriya Ganti, Frank J. Minja, Timothy B. Rooney
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Article
Oncology
Prarthna V. Bhardwaj, Renuka Dulala, Senthil Rajappa, Chandravathi Loke
Summary: The management of breast cancers in India needs greater emphasis on awareness, early detection, standard pathologic testing, and cost-effective solutions. With standardized management, outcomes similar to those of developed countries can be expected. Additionally, clinical trials aimed at a more diverse population in LMICs like India should be undertaken.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Article
Oncology
Victoria E. Forbes, Mary D. Chamberlin, Vincent Dusabejambo, Tim Walker, Steve P. Bensen, Norrisa Haynes, Kathryn Nunes, Veauthyelau Saint-Joy, Frederick L. Makrauer
Summary: Global health education needs to adapt to the challenges we face, such as inequities and pandemics. Virtual teaching models are effective in delivering global health education and improving outcomes through bidirectional learning and equitable partnerships.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Article
Oncology
Tefta Isufaj Haliti, Ilir Hoxha, Rubena Mojsiu, Rohini Mandal, Goksu Goc, Kreshnike Dedushi Hoti
Summary: The IOTA Simple Rules have high diagnostic performance in distinguishing between benign and malignant adnexal masses, providing a reliable tool for early diagnosis of ovarian cancer.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Article
Oncology
Cecilia Felix Penido Mendes de Sousa, Jared Pasetsky, Gustavo Nader Marta, Megan Kassick, Fabio Ynoe Moraes, Luqman K. Dad
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Article
Oncology
Mary D. Chamberlin, Dafina Ademi Islami, Shqiptar Demaci, Richard J. Barth Jr
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Review
Oncology
Jeta Bunjaku, Arber Lama, Tawanda Pesanayi, Jeton Shatri, Mary Chamberlin, Ilir Hoxha
Summary: The evidence suggests that lifestyle factors such as alcohol and coffee intake may increase the risk of lung cancer, while tea intake may have a protective effect. However, the quality of evidence is currently low and further research is needed.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Article
Oncology
Mary Chamberlin, Christopher Booth, Gabriel A. Brooks, Achille Manirakiza, Fidel Rubagumya, Verna Vanderpuye
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Article
Oncology
Anne Christine Buteau, Alicia Castelo-Loureiro, Regina Barragan-Carrillo, Suyapa Bejarano, Alba J. Kihn-Alarcon, Enrique Soto-Perez-de-Celis
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Review
Oncology
Ilir Hoxha, Fitim Sadiku, Lot Hoxha, Midhet Nasim, Marie Anne Christine Buteau, Krenare Grezda, Mary D. Chamberlin
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
