Article
Medical Laboratory Technology
Dabao He, Wenbin Kuang, Xiaoling Yang, Miao Xu
Summary: The study found that HbA1c levels were significantly lower in patients with HbH disease compared to healthy individuals, while GA showed no significant difference between the two groups. Using HbA1c as a diagnostic criterion for diabetes may lead to a considerable number of diabetic patients with HbH disease being missed. GA, instead of HbA1c, is suitable for monitoring glycemic control in patients with HbH disease and can modify HbA1c's discriminative ability for diagnosing diabetes.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2021)
Article
Immunology
Bronner P. Goncalves, Raul Perez-Caballero, Amadou Barry, Santara Gaoussou, Alexandra Lewin, Djibrilla Issiaka, Sekouba Keita, Bacary S. Diarra, Almahamoudou Mahamar, Oumar Attaher, David L. Narum, Jonathan D. Kurtis, Alassane Dicko, Patrick E. Duffy, Michal Fried
Summary: We investigated the history of malaria infections in twins from a longitudinal birth cohort in Mali. Results showed that in 16 out of 25 pairs, both children were infected and often developed symptoms. In 8 pairs, only one twin was infected, usually only once or twice. Statistical models suggested that this pattern is consistent with twin siblings having the same underlying infection rate. We also found that in a pair with discordant hemoglobin genotype, child with hemoglobin AS had consistently lower parasite densities, but similar antibody levels.
JOURNAL OF INFECTIOUS DISEASES
(2023)
Article
Multidisciplinary Sciences
Cuiting Peng, Haixia Zhang, Jun Ren, Han Chen, Ze Du, Tong Zhao, Aiping Mao, Ruofan Xu, Yulin Lu, He Wang, Xinlian Chen, Shanling Liu
Summary: Thalassemia is a common hereditary anemia with significant morbidity and mortality worldwide. Precise diagnosis of thalassemia, especially rare variants, remains challenging. This study utilized long-range PCR and long-molecule sequencing to diagnose common and rare types of thalassemia variants. Compared with traditional methods, the study identified rare clinically significant variants that were misdiagnosed previously. The results validated third-generation sequencing as a promising method for rare thalassemia genetic testing.
SCIENTIFIC REPORTS
(2022)
Article
Medicine, General & Internal
Helena U. Zacharias, Antoine Weihs, Mohamad Habes, Katharina Wittfeld, Stefan Frenzel, Tanweer Rashid, Beate Stubbe, Anne Obst, Andras Szentkiralyi, Robin Bulow, Klaus Berger, Ingo Fietze, Thomas Penzel, Norbert Hosten, Ralf Ewert, Henry Volzke, Hans J. Grabe
Summary: This study found significant associations between obstructive sleep apnea (OSA) and brain white matter hyperintensities (WMHs), indicating a novel, potentially treatable WMH pathomechanism.
Article
Pharmacology & Pharmacy
J. -Y Su, Y. Chen, H. -F Chen, J. -R Tong, Y. -N. Wei, L. -L Huang, L. Deng
Summary: This study aimed to analyze the anemia characteristics and pregnancy outcomes in pregnant women with Hb H disease in early pregnancy, and to provide reference for pregnancy management and treatment. The results showed that the anemia and pregnancy outcomes of pregnant women with Hb H disease were significantly different from those of normal pregnant women, and it increased the incidence rate of pregnancy complications, seriously affecting maternal and infant safety.
EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES
(2023)
Article
Pharmacology & Pharmacy
J. -Y Su, Y. Chen, H. -F Chen, J. -R Tong, Y. -N Wei, L. -L Huang, L. Deng
Summary: This study analyzed the anemia characteristics in early pregnancy of pregnant women with hemoglobin H (Hb H) disease and their pregnancy outcomes. It was found that Hb H disease can cause various degrees of anemia and increase the incidence of pregnancy complications, such as blood transfusion requirements, oligohydramnios, fetal growth restriction, and fetal distress, while reducing the weight of neonates. Therefore, monitoring maternal anemia and using transfusion therapy when necessary can improve adverse pregnancy outcomes caused by anemia.
EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES
(2023)
Article
Hematology
Khaled M. M. Musallam, Louise Lombard, Kristin D. D. Kistler, Maria Arregui, Keely S. S. Gilroy, Christina Chamberlain, Erin Zagadailov, Kimberly Ruiz, Ali T. T. Taher
Summary: This systematic literature review evaluated the global prevalence and birth prevalence of clinically significant forms of alpha- and beta-thalassemia. The prevalence estimates of thalassemia varied across countries and regions. More up-to-date, population-based epidemiological data are needed to fully understand the global prevalence of thalassemia.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Endocrinology & Metabolism
Anca Balintescu, Marcus Lind, Mikael Andersson Franko, Anders Oldner, Maria Cronhjort, Ann-Marie Svensson, Bjorn Eliasson, Johan Martensson
Summary: In individuals with type 2 diabetes, there is a U-shaped association between HbA(1c) and sepsis, with a fourfold increased risk of death among those developing sepsis.
Article
Medicine, General & Internal
Wenwen Chen, Huazhen Yang, Can Hou, Yajing Sun, Yanan Shang, Yu Zeng, Yao Hu, Yuanyuan Qu, Jianwei Zhu, Fang Fang, Donghao Lu, Huan Song
Summary: The study found a significant association between childhood asthma, especially when diagnosed at an early age, and adult height, even after considering genetic heterogeneity in height. This emphasizes the importance of monitoring growth issues in children with asthma.
Article
Multidisciplinary Sciences
Eleanor L. Woodward, Minjun Yang, Larissa H. Moura-Castro, Hilda van den Bos, Rebeqa Gunnarsson, Linda Olsson-Arvidsson, Diana C. J. Spierings, Anders Castor, Nicolas Duployez, Marketa Zaliova, Jan Zuna, Bertil Johansson, Floris Foijer, Kajsa Paulsson
Summary: This study reveals that the aneuploidies in high hyperdiploid acute lymphoblastic leukemia (HeH ALL) may originate early and follow a punctuated evolution process, using single-cell whole genome sequencing and in silico modeling.
NATURE COMMUNICATIONS
(2023)
Article
Biochemistry & Molecular Biology
Federico Comitani, Joshua O. Nash, Sarah Cohen-Gogo, Astra I. Chang, Timmy T. Wen, Anant Maheshwari, Bipasha Goyal, Earvin S. Tio, Kevin Tabatabaei, Chelsea Mayoh, Regis Zhao, Ben Ho, Ledia Brunga, John E. G. Lawrence, Petra Balogh, Adrienne M. Flanagan, Sarah Teichmann, Annie Huang, Vijay Ramaswamy, Johann Hitzler, Jonathan D. Wasserman, Rebecca A. Gladdy, Brendan C. Dickson, Uri Tabori, Mark J. Cowley, Sam Behjati, David Malkin, Anita Villani, Meredith S. Irwin, Adam Shlien
Summary: This study used an optimized multilevel RNA clustering approach to derive molecular definitions for most childhood cancers and constructed a pediatric cancer atlas. The definitions account for inter-tumoral and intra-tumoral heterogeneity and have the potential of enabling reproducible, quantifiable diagnostics.
Article
Medicine, General & Internal
Krittaya Phirom, Phasit Charoenkwan, Watshara Shoombuatong, Pimlak Charoenkwan, Supatra Sirichotiyakul, Theera Tongsong
Summary: This study developed a machine learning framework using red blood cell parameters to predict the alpha(+)-thalassemia trait and compared its diagnostic performance with conventional methods. The results showed that the framework had improved predictive performance and could potentially serve as a valuable tool for large-scale prediction of the alpha(+)-thal trait.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Makiko Nanishi, Aruna Chandran, Xiuhong Li, Joseph B. Stanford, Akram N. Alshawabkeh, Judy L. Aschner, Dana Dabelea, Anne L. Dunlop, Amy J. Elliott, James E. Gern, Tina Hartert, Julie Herbstman, Gurjit K. Khurana Hershey, Alison E. Hipwell, Margaret R. Karagas, Catherine J. Karr, Leslie D. Leve, Augusto A. Litonjua, Cindy T. McEvoy, Rachel L. Miller, Emily Oken, T. Michael O'Shea, Nigel Paneth, Scott T. Weiss, Robert O. Wright, Rosalind J. Wright, Kecia N. Carroll, Xueying Zhang, Qi Zhao, Edward Zoratti, Carlos A. Camargo Jr, Kohei Hasegawa
Summary: Based on large-scale cohort data, this study found that infants hospitalized with bronchiolitis are at a higher risk for developing asthma. There is quantitative heterogeneity in different racial and ethnic groups.
Article
Chemistry, Multidisciplinary
Kaiqing Ma, He Yang, Xingkang Wu, Fangjun Huo, Fangqin Cheng, Caixia Yin
Summary: A new liposoluble cationic probe, KC8, was developed to detect NAD(P)H and monitor the abnormality of p53 in colorectal cancer cells in real time.
ANGEWANDTE CHEMIE-INTERNATIONAL EDITION
(2023)
Article
Multidisciplinary Sciences
Christy A. Denckla, Sun Yeop Lee, Rockli Kim, Georgina Spies, Jennifer J. Vasterling, S. V. Subramanian, Soraya Seedat
Summary: Individual differences in neurocognitive performance were found among Black South African women following childhood maltreatment. The mean performance in some tests of information processing speed decreased with increasing severity of childhood maltreatment, while significant individual variation was observed in other tests based on severity of childhood maltreatment.
SCIENTIFIC REPORTS
(2021)
Article
Medicine, Research & Experimental
James F. Casella, Robert J. Adams, Donald J. Brambilla, John J. Strouse, Pia Maier, Rachel Dlugash, Radhika Avadhani, Krista Vermillion, James Tonascia, Jenifer H. Voeks, Daniel F. Hanley, Richard E. Thompson, Harold P. Lehmann, Neil A. Goldenberg, Gregory A. Hale, Connie M. Piccone Case, Deepa G. Manwani, Michael U. Callaghan, Sharada A. Sarnaik, Janet L. Kwiatkowski, Jan P. Boswinkel, Rebecca N. Ichord, Ram V. Kalpatthi, Robert S. Nickel, Eugenie S. Heitmiller, Michael F. Guerrera, Banu Aygun, Hyde Park, Nancy S. Green, Beng R. Fuh, Robert C. Brown, Baba P. D. Inusa, David C. Rees, Alexis A. Thompson, Sherron M. Jackson, Julie Kanter, Anthony D. Villella, Manisha M. Bansal, Paul T. Telfer, Jason M. Fixler, Melanie Kirby-Allen, Elliott P. Vichinsky, Lynne D. Neumayr, Jeffrey D. Lebensburger, Lucien V. Black, Lewis L. Hsu, Ofelia A. Alvarez, Rupa C. Redding-Lallinger, Allison A. King, Robert C. McKinstry, Desiree A. White, James J. Fehr, Michael J. Noetzel, Lori C. Jordan, Julie A. Panepinto, Dennis W. Shaw, John P. Whittle, Suvankar Majumdar, Lydia H. Pecker, Donna A. Whyte-Stewart, Cynthia A. Smith, Joanne E. Shay, Michael A. Kraut, Emily A. Barron-Casella, Kimberly Jones, Andre W. Hackman, Diane C. Weiss, W. Andrew Mould, Steven W. Mayo, Noeleen Ostapkovich
Article
Dentistry, Oral Surgery & Medicine
Maryam Akbari, Riddhi Patel, Vincent Carrao, Ward Hagar, Elliott Vichinsky, Sung-Kiang Chuang
JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY
(2019)
Article
Medicine, Research & Experimental
Jennifer Michlitsch, Sandra Larkin, Elliott Vichinsky, Frans A. Kuypers
EXPERIMENTAL BIOLOGY AND MEDICINE
(2019)
Article
Clinical Neurology
Thomas Klopstock, Fernando Tricta, Lynne Neumayr, Ivan Karin, Giovanna Zorzi, Caroline Fradette, Tomasz Kmiec, Boriana Buchner, Hannah E. Steele, Rita Horvath, Patrick F. Chinnery, Anna Basu, Clemens Kupper, Christiane Neuhofer, Bernadette Kalman, Petr Dusek, Zuhal Yapici, Ian Wilson, Feng Zhao, Federica Zibordi, Nardo Nardocci, Christine Aguilar, Susan J. Hayflick, Michael Spino, Andrew M. Blamire, Penelope Hogarth, Elliott Vichinsky
Article
Medicine, General & Internal
Elliott Vichinsky, Carolyn C. Hoppe, Kenneth I. Ataga, Russell E. Ware, Videlis Nduba, Amal El-Beshlawy, Hoda Hassab, Maureen M. Achebe, Salam Alkindi, R. Clark Brown, David L. Diuguid, Paul Telfer, Dimitris A. Tsitsikas, Ashraf Elghandour, Victor R. Gordeuk, Julie Kanter, Miguel R. Abboud, Joshua Lehrer-Graiwer, Margaret Tonda, Allison Intondi, Barbara Tong, Jo Howard
NEW ENGLAND JOURNAL OF MEDICINE
(2019)
Article
Hematology
Angela Vitrano, Khaled M. Musallam, Antonella Meloni, Sebastiano Addario Pollina, Mehran Karimi, Amal El-Beshlawy, Mahmoud Hajipour, Vito Di Marco, Saqib Hussain Ansari, Aldo Filosa, Paolo Ricchi, Adriana Ceci, Shahina Daar, Efthymia Vlachaki, Sylvia Titi Singer, Zaki A. Naserullah, Alessia Pepe, Salvatore Scondotto, Gabriella Dardanoni, Fedele Bonifazi, Vijay G. Sankaran, Elliott Vichinsky, Ali T. Taher, Aurelio Maggio
Summary: Using unsupervised random forest clustering, we found that beta-thalassemia patients can be divided into three subgroups based on clinical severity, with differences in phenotype severity.
THALASSEMIA REPORTS
(2022)
Meeting Abstract
Oncology
Elliott Vichinsky, Carolyn Hoppe, Jo Howard, Kenneth Ataga, Videlis Nduba, Amal El Beshlawy, David Diuguid, Salam Al Kindi, Clark Brown, Hoda Hassab, Paul Telfer, Dimitris Tsitsikas, Selma Unal, Julie Kanter, Miguel Abboud, Victor Gordeuk, Joshua Lehrer-Graiwer, Claire Sherman, Margaret Tonda, Allison Intondi, Yifah Yaron, Russell Ware
PEDIATRIC BLOOD & CANCER
(2019)
Meeting Abstract
Clinical Neurology
C. Fradette, T. Klopstock, L. Neumayr, I. Karin, G. Zorzi, T. Kmiec, B. Buchner, H. Steele, R. Horvath, P. Chinnery, A. Basu, C. Kupper, C. Neuhofer, F. Zibordi, N. Nardocci, A. Stilman, M. Spino, E. Vichinsky, F. Tricta
MOVEMENT DISORDERS
(2019)
Meeting Abstract
Biophysics
Suradej Hongeng, Alexis Thompson, Janet Kwiatkowski, John Rasko, Gary Schiller, Elliott Vichinsky, Morris Kletzel, P. Joy Ho, Usanarat Anurathapan, Manfred Schmidt, Marina Cavazzana, Philippe Leboulch, Briana Deary, Ying Chen, Mohammed Asmal, Mark Walters
BONE MARROW TRANSPLANTATION
(2019)
Article
Respiratory System
A. Parker Ruhl, S. Christy Sadreameli, Julian L. Allen, Debra P. Bennett, Andrew D. Campbell, Thomas D. Coates, Dapa A. Diallo, Joshua J. Field, Elizabeth K. Fiorino, Mark T. Gladwin, Jeffrey A. Glassberg, Victor R. Gordeuk, Leroy M. Graham, Anne Greenough, Jo Howard, Gregory J. Kato, Jennifer Knight-Madden, Benjamin T. Kopp, Anastassios C. Koumbourlis, Sophie M. Lanzkron, Robert Liem, Roberto F. Machado, Alem Mehari, Claudia R. Morris, Folasade O. Ogunlesi, Carol L. Rosen, Kim Smith-Whitley, Danna Tauber, Nancy Terry, Swee Lay Thein, Elliott Vichinsky, Nargues A. Weir, Robyn T. Cohen, Elizabeth S. Klings
ANNALS OF THE AMERICAN THORACIC SOCIETY
(2019)
Meeting Abstract
Hematology
Elliott Vichinsky, Carolyn Hoppe, Jo Howard, Kenneth I. Ataga, Videlis Nduba, Amal El-Beshlawy, David L. Diuguid, Salam Al-Kindi, Clark Brown, Hoda Hassab, Paul Telfer, Dimitris A. Tsitsikas, Selma Unal, Julie Kanter, Miguel R. Abboud, Victor R. Gordeuk, Joshua Lehrer-Graiwer, Claire Sherman, Margaret Tonda, Allison Intondi, Yifah Yaron, Russell E. Ware
Meeting Abstract
Hematology
Mitchell Cairo, Susan K. Parsons, Suzanne Braniecki, Julie-An Talano, Theodore B. Moore, Qiuhu Shi, Carolyn A. Keever-Taylor, Rona Singer Weinberg, Brenda J. Grossman, Allen J. Dozor, Deborah Friedman, Robert C. McKinstry, James Verbsky, Chitti R. Moorthy, Ruth Ann Weidner, Angie Mae Rodday, Janet Ayello, Mildred Semidei-Pomales, Allyson M. Flower, Yaya Chu, Erin Morris, Harshini Mahanti, Sandra Fabricatore, Olga Militano, Liana Klejmont, Carmella van de Ven, Lee Ann Baxter-Lowe, Elliott Vichinsky, Mark C. Walters, Shalini Shenoy
Meeting Abstract
Clinical Neurology
T. Klopstock, F. Tricta, L. Neumayr, I. Karin, G. Zorzi, C. Fradette, T. Kmiec, B. Buechner, H. Steele, R. Horvath, P. Chinnery, A. Basu, C. Kuepper, C. Neuhofer, P. Dusek, F. Zhao, F. Zibordi, N. Nardocci, C. Aguilar, S. Hayflick, M. Spino, A. Blamire, P. Hogarth, E. Vichinsky
MOVEMENT DISORDERS
(2018)
Meeting Abstract
Clinical Neurology
T. Klopstock, F. Tricta, C. Fradette, M. Spino, B. Buechner, I. Karin, L. Neumayr, C. Aguilar, F. Zhao, T. Kmiec, N. Nardocci, G. Zorzi, H. Steele, R. Horvath, P. Chinnery, P. Hogarth, S. J. Hayflick, A. Blamire, E. Vichinsky
EUROPEAN JOURNAL OF NEUROLOGY
(2018)
Meeting Abstract
Oncology
Jennifer Michlitsch, Elliott Vichinsky, Sandra Larkin, Frans Kuypers
PEDIATRIC BLOOD & CANCER
(2018)