Review
Pediatrics
Patrick A. Green, Cezar D. Nicoara, Paul D. Losty
Summary: This study evaluated the incidence of intestinal malrotation anomalies in newborns with esophageal atresia and found that they are at a higher risk of having such anomalies compared to healthy babies.
JOURNAL OF PEDIATRIC SURGERY
(2022)
Review
Medicine, General & Internal
Christine Yoshinaga-Itano, Vinaya Manchaiah, Cynthia Hunnicutt
Summary: This systematic review found that universal newborn hearing screening (UNHS) can lead to better outcomes for children with permanent congenital hearing loss, including earlier identification and initiation of intervention services, as well as improved language and literacy development. UNHS was cost-effective in terms of societal savings, and no adverse effects on parents were noted.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Genetics & Heredity
Karolina Aragon-Gawinska, Charlotte Mouraux, Tamara Dangouloff, Laurent Servais
Summary: Early treatment in spinal muscular atrophy has a significant impact on patient prognosis, and the results vary depending on the number of SMN2 copies and the initial neurological status of the patient.
Review
Genetics & Heredity
Margie A. Ream, Wendy K. K. Lam, Scott D. Grosse, Jelili Ojodu, Elizabeth Jones, Lisa A. Prosser, Angela M. Rose, Anne Marie Comeau, Susan Tanksley, Cynthia M. Powell, Alex R. Kemper
Summary: Mucopolysaccharidosis type II, also known as Hunter syndrome, is an X-linked genetic disorder caused by pathogenic variants in the iduronate-2-sulfatase gene. This leads to enzyme activity reduction and accumulation of glycosaminoglycans, resulting in multi-organ system involvement and impaired neurologic development. After evidence showed the benefit of early treatment, MPS II newborn screening was implemented in Illinois and Missouri.
GENETICS IN MEDICINE
(2023)
Article
Endocrinology & Metabolism
Robert Thompson-Stone, Margie A. Ream, Michael Gelb, Dietrich Matern, Joseph J. Orsini, Paul A. Levy, Jennifer P. Rubin, David A. Wenger, Barbara K. Burton, Maria L. Escolar, Joanne Kurtzberg
Summary: This study provides updated evidence and consensus-based recommendations for the classification of individuals who screen positive for Krabbe Disease (KD) and recommendations for long-term follow-up for those at risk of late onset Krabbe Disease (LOKD). The newly proposed recommendations were assessed in a historical cohort and found to reduce follow-up testing by 88%. The focus is on efficient and effective classification and follow-up of NBS positive patients with a long-term follow-up for those at risk for LOKD.
MOLECULAR GENETICS AND METABOLISM
(2021)
Review
Chemistry, Analytical
Jeban Chandir Moses, Sasan Adibi, Nilmini Wickramasinghe, Lemai Nguyen, Maia Angelova, Sheikh Mohammed Shariful Islam
Summary: Disease screening is crucial for early detection and effective prevention or treatment. Due to the COVID-19 pandemic, hospital visits for screening have been restricted, leading to the disruption of cancer, diabetes, and cardiovascular disease screening. Smartphone applications have the potential to serve as low-cost and high-quality disease-screening and monitoring devices. This study evaluated the use and acceptability of smartphone applications for disease screening in the medical and healthcare sectors, and classified different screening approaches and analyzed technology acceptance. The findings highlight the importance of smartphone solutions in providing equitable healthcare access.
Review
Medicine, General & Internal
Janelle M. Guirguis-Blake, Corinne V. Evans, Elizabeth M. Webber, Erin L. Coppola, Leslie A. Perdue, Meghan Soulsby Weyrich
Summary: This systematic review summarizes the published evidence on the benefits and harms of hypertension screening and confirmatory blood pressure measurements in adults, highlighting major accuracy limitations in office-based blood pressure measurement but minimal direct harms. Further research is needed to determine optimal screening and confirmatory algorithms for clinical practice.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2021)
Review
Pediatrics
Dwayne Mascarenhas, Medha Goyal, Anitha Haribalakrishna, Ruchi Nanavati, Pranav Ish, Shekhar Kunal
Summary: A new pattern of multisystem inflammatory syndrome following SARS-CoV-2 infection has emerged globally, including cases in adults, children, and now neonates. This study systematically reviewed the clinical characteristics, laboratory parameters, treatment, and outcomes of neonates with MIS-N. The findings showed a predilection for late preterm males with cardiovascular involvement and highlighted the need for global registries for MIS-N.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Review
Medicine, General & Internal
Raviv Allon, Michael Aronov, Michael Belkin, Elad Maor, Michael Shechter, Ido Didi Fabian
Summary: The study found significant associations between retinal microvascular changes and various cardiac diseases, including acute coronary syndrome, coronary artery disease, heart failure, and conduction abnormalities. The retinal microvasculature can provide essential data about concurrent cardiac disease status and predict future risk of cardiac-related events.
AMERICAN JOURNAL OF MEDICINE
(2021)
Review
Cell Biology
Katharina Hohenfellner, Ewa Elenberg, Gema Ariceta, Galina Nesterova, Neveen A. Soliman, Rezan Topaloglu
Summary: Newborn screening is a successful secondary prevention measure for childhood diseases, allowing for early disease identification and treatment. The introduction of a new target disease requires careful analysis of the screening process, including scientific background, analytics, and logistics. Early diagnosis of nephropathic cystinosis is important, and molecular technologies have shown feasibility for its screening.
Review
Immunology
Matteo Ricco, Pietro Ferraro, Salvatore Zaffina, Vincenzo Camisa, Federico Marchesi, Davide Gori
Summary: This meta-analysis found that welders exposed to welding fumes have an increased risk of invasive pneumococcal disease (IPD) and higher mortality rate. It also suggests that pneumococcal vaccination should be recommended for welders.
Review
Medicine, General & Internal
Elizabeth A. O'Connor, Michelle L. Henninger, Leslie A. Perdue, Erin L. Coppola, Rachel G. Thomas, Bradley N. Gaynes
Summary: This review examines the benefits and harms of screening and treatment for anxiety, as well as the accuracy of screening instruments for anxiety in primary care patients. The study found that treatment for anxiety is beneficial, but there is insufficient evidence regarding the benefits or harms of anxiety screening programs.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2023)
Review
Health Care Sciences & Services
Michael Aronov, Raviv Allon, Danielle Stave, Michael Belkin, Eyal Margalit, Ido Didi Fabian, Barak Rosenzweig
Summary: The study found significant associations between retinal vascular changes and kidney dysfunction, providing important data on current kidney disease status and predicting future risk for kidney disease development and progression.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Review
Oncology
Ibrahim Alkatout, Matthias Biebl, Zohre Momenimovahed, Edward Giovannucci, Fatemeh Hadavandsiri, Hamid Salehiniya, Leila Allahqoli
Summary: The study found that COVID-19 has led to a significant decline in cancer screening and diagnosis rates, an increase in advanced cancers, mortality rates, and years of life lost. Urgent policy interventions are needed to address the backlog of routine diagnostic services and minimize the harmful effects of the pandemic on cancer patients.
FRONTIERS IN ONCOLOGY
(2021)
Review
Pediatrics
Cheng Wen, Xuelei Zhao, Yue Li, Yiding Yu, Xiaohua Cheng, Xiaohong Li, Kui Deng, Xuelian Yuan, Lihui Huang
Summary: This study aimed to assess the quality of global guidelines for newborn and childhood hearing screening and compare them between countries, specifically China. A systematic review was conducted, and the findings showed that the Chinese guidelines for newborn and pediatric hearing screening protocols are consistent with international recommendations. However, there is room for improvement in the areas of editorial independence and stakeholder involvement.
Article
Psychology, Developmental
Laura C. Hart, Scott D. Grosse, Melissa L. Danielson, Rebecca A. Baum, Alex R. Kemper
Summary: This study found that younger patients at follow-up were more likely to continue using ADHD medications, and patients who consulted pediatric providers at both baseline and follow-up were more likely to continue filling prescriptions for ADHD medications. Patients who changed from pediatric to non-pediatric providers were less likely to continue receiving ADHD medication.
JOURNAL OF ATTENTION DISORDERS
(2021)
Article
Education, Scientific Disciplines
Deborah F. Stiles, Brenda L. Ruotolo, Helen Kim, Jane Cho, Paul S. Appelbaum, Nancy S. Green
Summary: The article discusses how Columbia University addressed challenges of protecting research participants and facilitating biomedical research during the COVID-19 pandemic. They implemented measures to temporarily halt and later speed up human subjects research, as well as prioritized effective communication and collaboration.
Article
Pediatrics
Christian Mpody, Brittany Willer, Ekua Owusu-Bediako, Alex R. Kemper, Joseph D. Tobias, Olubukola O. Nafiu
Summary: Despite advancements in perioperative medicine, racial minority children still experience higher rates of surgical complications and perforation after appendectomy, leading to a significant economic burden. Efforts to reduce racial disparities in pediatric surgical outcomes are needed to address these disparities.
Article
Oncology
Miriam Kwarteng-Siaw, Amma Benneh-Akwasi Kuma, Nancy S. Green
Summary: Expanding services for sickle cell disease in Ghana is expected to increase the need for transition to adult care. This study focused on the experiences of adolescents and young adults at an adult sickle cell clinic in Accra, Ghana, and found that pretransition preparation may ease the peritransition experience.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
(2022)
Article
Oncology
Cristina R. Fernandez, Maureen Licursi, Randi Wolf, Margaret T. Lee, Nancy S. Green
Summary: This study investigated the association between food insecurity, housing instability, and dietary quality among individuals with Sickle Cell Disease (SCD) in the US. Findings suggest that having one or more social determinants of health (SDoH) is linked to poorer diet quality, highlighting the importance of screening for food insecurity and housing instability in families of children with SCD to identify potential nutrition-related social needs.
PEDIATRIC BLOOD & CANCER
(2022)
Letter
Pediatrics
Marie-Coralie Cornet, Alex R. Kemper, M. Jeffrey Maisels, Jon Watchko, Thomas B. Newman
PEDIATRIC RESEARCH
(2022)
Article
Pediatrics
Lewis R. First, Alex R. Kemper
Article
Neurosciences
Richard Idro, Amelia K. Boehme, Michael Kawooya, Samson K. Lubowa, Deogratias Munube, Paul Bangirana, Robert Opoka, Ezekiel Mupere, Angela Lignelli, Philip Kasirye, Nancy S. Green, Frank J. Minja
Summary: The study found that over half of Ugandan children with sickle cell anaemia had cerebrovascular infarcts and/or arterial stenoses. These vascular diseases were often undetectable by clinical assessments, highlighting the importance of MRI-MRA brain imaging in defining SCA cerebrovascular disease.
JOURNAL OF STROKE & CEREBROVASCULAR DISEASES
(2022)
Article
Oncology
Nancy S. Green, Deepa Manwani, Kim Smith-Whitley, Banu Aygun, Abena Appiah-Kubi, Arlene M. Smaldone
Summary: Youth with sickle cell disease and their caregivers are more vulnerable to stress and depression during the pandemic, and this may be worsened by the health and economic concerns associated with the pandemic. A survey conducted during the COVID-19 pandemic showed that the prevalence of mental health symptoms shifted among the youth-caregiver dyads, with fewer youth but more caregivers being affected. Both groups lacked optimism. Therefore, screening for mental health symptoms and food insecurity among youth with sickle cell disease during and after the pandemic appears necessary.
PEDIATRIC BLOOD & CANCER
(2022)
Letter
Hematology
Nancy S. Green, Layla Van Doren, Maureen Licursi, Daniel D. Billings, Luke A. Sandoval, Yona M. Z. Feit, Eldad A. Hod
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Oncology
Megan A. Askew, Arlene M. Smaldone, Melanie A. Gold, Kim Smith-Whitley, John J. Strouse, Zhezhen Jin, Nancy S. Green
Summary: This study aimed to assess the contraceptive practices of pediatric hematology providers for female adolescents and young adults with sickle cell disease (SCD). The results showed that there were variations in provider contraceptive practices, especially based on provider status. Key motivators included patient request and disclosure of sexual activity, while key barriers included inadequate provider training and limited visit time.
PEDIATRIC BLOOD & CANCER
(2022)
Article
Hematology
Nancy S. Green, Andrew Zapfel, Obiageli E. Nnodu, Patience Franklin, Venee N. Tubman, Lulu Chirande, Charles Kiyaga, Catherine Chunda-Liyoka, Bernard Awuonda, Kwaku Ohene-Frempong, Baba P. D. Inusa, Russell E. Ware, Isaac Odame, Emmanuela E. Ambrose, Livingstone G. Dogara, Assaf P. Oron, Chase Willett, Alexis A. Thompson, Nancy Berliner, Theresa L. Coetzer, Enrico M. Novelli
Summary: Sickle cell disease is a common condition in sub-Saharan Africa with high under-5 mortality. The American Society of Hematology established the Consortium on Newborn Screening in Africa (CONSA) to implement standardized newborn hemoglobinopathy screening and early intervention. The primary objectives of the trial are to determine the birth incidence of SCD and assess the effectiveness of early standardized care in reducing mortality. Secondary objectives include establishing universal screening and interventions and evaluating trial implementation.
Article
Medicine, General & Internal
Sarah L. Reeves, Hannah K. Peng, Jeffrey J. Wing, Lindsay W. Cogan, Alka Goel, David Anders, Nancy S. Green, Lynda D. Lisabeth, Kevin J. Dombkowski
Summary: Hydroxyurea is underused among youths with sickle cell anemia (SCA), despite being the primary therapy for the disease. The release of new guidelines did not significantly increase hydroxyurea use. To increase its utilization, a multifaceted approach addressing various barriers is needed.
Article
Hematology
Nancy S. Green, Caterina Rosano, Paul Bangirana, Robert Opoka, Deogratias Munube, Philip Kasirye, Michael Kawooya, Samson K. Lubowa, Ezekiel Mupere, Andrea Conroy, Frank J. Minja, Amelia K. Boehme, Min Suk Kang, Lawrence S. Honig, Richard Idro
Summary: Cerebrovascular injury is common in children with sickle cell anaemia (SCA) in sub-Saharan Africa, but limited access to MRI-MRA hinders detection. Blood-based biomarkers, including neurofilament light chain (NfL), may help identify cerebral infarcts. In a study with Ugandan children with SCA, NfL levels were significantly higher in those with MRI-detected infarcts and elevated TCD velocity. NfL levels could potentially be used as a biomarker for SCA cerebrovascular injury.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Pediatrics
Dane A. Snyder, Jonathon Schuller, Zeenath Ameen, Christina Toth, Alex R. Kemper
Summary: Patient empanelment and continuity of well-child care visits significantly improved after interventions, leading to decreased emergency department utilization, higher show rates, and increased timely completion of well-child care visits.
ACADEMIC PEDIATRICS
(2022)
Article
Genetics & Heredity
Katerina S. Kucera, Beth Lincoln Boyea, Brooke Migliore, Sarah Nelson Potter, Veronica R. Robles, Oksana Kutsa, Heidi Cope, Katherine C. Okoniewski, Anne Wheeler, Catherine W. Rehder, Edward C. Smith, Holly L. Peay
Summary: Screening for elevated CK-MM levels in dried blood spots is a feasible method to identify newborns with DMD. Including specific cutoffs, repeat testing, and genetic sequencing can improve the accuracy and sensitivity of screening.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Madeline Currey, Ilana Solomon, Sarah Mcgraw, Jenny Shen, Francisco Munoz, Ernesto Sosa, Vanessa Puello-Lozano, Sam Wing, Lisa Lopez, Michelle Afkhami, Janine Lobello, Szabolcs Szelinger, Stacy W. Gray
Summary: This study conducted qualitative interviews with cancer patients and providers to identify gaps in clinical care and propose care delivery solutions for the return of secondary germline findings. The responses of patients varied depending on the amount of pre-test counseling they received, and providers identified insufficient clinic time as a major barrier to pretest education. Online support tools and standardized pre-test education models were favored by providers. There were differing perspectives on how pre-test education should be integrated into clinical workflows, but agreement on the inclusion of differences between somatic and germline testing, likelihood of medically actionable findings, and the possibility of being referred to a genetics provider.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kiely N. James, Shimul Chowdhury, Yan Ding, Sergey Batalov, Kelly Watkins, Yong Hyun Kwon, Lucitia Van Der Kraan, Katarzyna Ellsworth, Stephen F. Kingsmore, Lucia Guidugli
Summary: This study used genome sequencing to detect a wide range of copy-number variants (CNVs) and other non-single nucleotide variant/indel variant types. These genetic alterations accounted for 15.8% of reported variants, with deletions being the most common type. The study also found that additional genetic tests were ordered in some cases, but failed to report the variants detected by genome sequencing.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Asem Berkalieva, Nicole R. Kelly, Ashley Fisher, Samuel F. Hohmann, Monisha Sebastin, Miranda Di Biase, Katherine E. Bonini, Priya Marathe, Jacqueline A. Odgis, Sabrina A. Suckiel, Michelle A. Ramos, Rosamond Rhodes, Noura S. Abul-Husn, John M. Greally, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny, Bruce D. Gelb, Bart S. Ferket
Summary: The study aims to understand the effects of returning diagnostic sequencing results on clinical actions and economic outcomes for pediatric patients with suspected genetic disorders. The results showed that patients with positive findings were more likely to receive specialist consultation, but there were no significant increases in overall physician services and costs. More large-scale studies are needed to confirm these findings.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kirstine Stochholm, Camilla Holmgard, Shanlee M. Davis, Claus H. Gravholt, Agnethe Berglund
Summary: This study assessed the incidence, prevalence, and age at diagnosis of individuals with 45,X/46,XY mosaicism and described the associated mortality pattern. The study found an increasing incidence of 45,X/46,XY mosaicism in males and a stable incidence in females. Males were diagnosed at an older age than females. Additionally, 45,X/46,XY mosaicism was associated with increased all-cause mortality.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Yunjia Chen, Ender Karaca, Nathaniel H. Robin, Dana Goodloe, Ali Al-Beshri, S. Joy Dean, Anna C. E. Hurst, Andrew J. Carroll, Fady M. Mikhail
Summary: This study confirms the association between DLG2 intragenic deletions and neurodevelopmental disorders, supports the haploinsufficiency of the DLG2 gene, and suggests a potential association between these deletions and congenital anomalies and dysmorphism.
GENETICS IN MEDICINE
(2024)