Article
Health Care Sciences & Services
Xian Tan, Hebin Xie, Danling Wang
Summary: Improvement is needed in nutrition and physical activity counseling among Chinese GPs. GPs' personal lifestyle choices may influence their counseling practice. It is recommended for GPs to adopt healthier lifestyle habits and proactive measures should be taken to assist them in overcoming barriers encountered with lifestyle counseling.
RISK MANAGEMENT AND HEALTHCARE POLICY
(2023)
Article
Genetics & Heredity
Erwin Birnie, Juliette Schuurmans, Mirjam Plantinga, Kristin M. Abbott, Angela Fenwick, Anneke Lucassen, Marjolein Y. Berger, Irene M. van Langen, Adelita V. Ranchor
Summary: The study examined the psychological outcomes of couple-based expanded preconception carrier screening (ECS) for 50 autosomal recessive (AR) conditions. Most participants were satisfied with their decision on testing, and overall levels of anxiety and worry were low. Although some individuals reported increased anxiety or worry, the psychological outcomes were deemed acceptable and not a barrier to population-wide implementation.
GENETICS IN MEDICINE
(2021)
Article
Computer Science, Information Systems
Rosario R. Ricalde, Jonathan G. Fabia, Carlos Diego A. Rozul, Maria Rina T. Reyes Quintos, Raymond Francis R. Sarmiento
Summary: The study aimed to assess the usability of the online and offline versions of the Philippine Electronic National Newborn Hearing Screening Registry (ENNHSR) and examine user perspectives and satisfaction with the training modules and system. The study involved the development of the ENNHSR systems, training modules, evaluation of the user manual, and conducting user training sessions. The results showed positive feedback from participants and identified areas for improvement.
INTERNATIONAL JOURNAL OF MEDICAL INFORMATICS
(2022)
Article
Public, Environmental & Occupational Health
Malgorzata Znyk, Dorota Kaleta
Summary: This study aimed to determine the influence of personal factors, such as body mass index (BMI), of general practitioners (GPs) on their counseling behaviors and patient health management. The study found that only a small percentage of physicians always provided advice on diet and physical activity, and most GPs only occasionally provided counseling. GPs who engaged in physical activity and measured patient weight, height, and BMI were more likely to provide advice on nutrition and physical activity. Lack of time was identified as the main barrier to counseling.
FRONTIERS IN PUBLIC HEALTH
(2023)
Review
Hematology
Daniel E. Sabath
Summary: Hemoglobin disorders are prevalent worldwide and can be diagnosed through molecular genetic testing. Protein-based techniques are initially used for diagnosis, and molecular testing is pursued when a definitive diagnosis is not possible. Molecular diagnostic testing plays an important role in assessing genetic risk and in prenatal diagnosis for severe hemoglobinopathies and thalassemias.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2023)
Review
Neurosciences
Reza Abbas Farishta, Reza Farivar
Summary: The article discusses common visual disturbances in TBI patients and the challenges primary care physicians face in diagnosing them. It proposes a screening protocol for specialized evaluation by optometrists and also introduces a simple and quick screening protocol.
FRONTIERS IN HUMAN NEUROSCIENCE
(2022)
Article
Genetics & Heredity
Jennifer Reiner, Lynne S. Rosenblum, Winnie Xin, Zhaoqing Zhou, Hui Zhu, Natalia Leach
Summary: The frequency of pathogenic genotypes in a presumed healthy carrier screening cohort was investigated in this study to facilitate broader discussions regarding disclosure of genetic information from carrier screening. The results showed that approximately 0.11% of individuals undergoing screening carried pathogenic genotypes associated with moderate to profound autosomal recessive or X-linked conditions. Heterozygote risk alleles accounted for the majority of other findings in this cohort, including carrier status of FMR1 premutation alleles, pathogenic DMD variants, and pathogenic variants in genes that may confer increased risk for somatic malignancies in the heterozygous state. These data suggest that nearly 1% of individuals undergoing carrier screening will have a finding that may require clinical evaluation or surveillance.
GENETICS IN MEDICINE
(2023)
Article
Medicine, General & Internal
Henry J. O. Lawson, David N. N. Nortey
Summary: Family Medicine is a growing specialty in Africa, where practitioners value core values such as comprehensive care, continuity of care, collaborative care, patient-centered care, and lifelong learning. These values should guide the development of curricula and training methods for the specialty in the region.
FRONTIERS IN MEDICINE
(2021)
Article
Immunology
McKenna C. Eastment, George Wanje, Barbra A. Richardson, Emily Mwaringa, Kenneth Sherr, Ruanne Barnabas, Martha Perla, Kishorchandra Mandaliya, Walter Jaoko, R. Scott McClelland
Summary: This study aimed to test the effectiveness of the Systems Analysis and Improvement Approach (SAIA) in increasing rates of HIV testing and counseling in family planning clinics in Mombasa, Kenya. By implementing SAIA cycles and analyzing the data, the study found that SAIA significantly increased the proportion of new family planning clients tested and counseled for HIV. This suggests that integrating routine HIV testing into family planning clinics could contribute to achieving the UNAIDS goal of increasing awareness of HIV status.
Article
Pediatrics
Heather J. Stalker, Amy R. Jonasson, Sidney M. Hopfer, Melanie Sue Collins
Summary: Genetic counseling through telemedicine was well received by families, leading to improved understanding of CF-related risks for their child and other family members. The study also showed that parents demonstrated better comprehension of the genetic implications of an abnormal CF newborn screen after receiving counseling via telemedicine. Additionally, the use of trained CF genetic counselors through telemedicine proved to be feasible and effective in improving parent understanding of CF genetics across a wide geographical area.
PEDIATRIC PULMONOLOGY
(2023)
Article
Multidisciplinary Sciences
Mahesh Chandra Puri, Sarah Huber-Krum, David Canning, Muqi Guo, Iqbal H. Shah
Summary: Postpartum women in Nepal have high rates of unmet need for modern contraception in the two years following birth. Providing contraceptive counseling during pregnancy and/or before or after discharge from the hospital is associated with reduced postpartum unmet need. Counseling in both the pre- and post-discharge periods is most effective in reducing unmet need for contraception.
Article
Education & Educational Research
Aynur Uysal Toraman, Suheyla Altug Ozsoy, Ozum Erkin, Zuhal Emlek Sert, Sevcan Topcu, Esin Ates
Summary: The use of standardized patients in nursing education has many advantages, including providing realistic learning opportunities, defining patient needs, reducing anxiety and stress, and improving clinical performance and self-confidence. This study focuses on the effect of repeated standardized patient simulations in family planning counseling on nursing students' anxiety levels, communication, and counseling skills.
INTERACTIVE LEARNING ENVIRONMENTS
(2023)
Article
Management
Hussein El Hajj, Douglas R. Bish, Ebru K. Bish, Denise M. Kay
Summary: Newborn screening (NBS) is a state-level initiative that detects life-threatening genetic disorders for which early treatment can substantially improve health outcomes. Cystic fibrosis (CF) is one of the most prevalent disorders in NBS. To overcome cost barriers, a novel approach of multipanel pooled DNA testing is explored.
MANAGEMENT SCIENCE
(2022)
Article
Health Care Sciences & Services
Josiah D. Allen, Amy L. Pittenger, Jeffrey R. Bishop
Summary: Patient counseling is crucial in pharmacogenomic (PGx) testing. A scoping review and thematic analysis identified important themes and subthemes, providing valuable context for patient counseling. Pre- and post-test counseling could help mitigate knowledge gaps, misunderstandings, and concerns.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Oncology
Ya-Sian Chang, Dy-San Chao, Chin-Chun Chung, Yu-Pao Chou, Chieh-Min Chang, Chia-Li Lin, Hou-Wei Chu, Hon-Da Chen, Ting-Yuan Liu, Yu-Hsuan Juan, Shun-Jen Chang, Jan-Gowth Chang
Summary: This study conducted whole-genome sequencing to explore germline mutations in cancer-related genes and found a high incidence of familial cancer in the Taiwanese population. The study also proposed a subgrouping method to study the relevance of a gene or variant to cancer.
Article
Genetics & Heredity
Nicola Ragge, Bertrand Isidor, Pierre Bitoun, Sylvie Odent, Irina Giurgea, Benjamin Cogne, Wallid Deb, Marie Vincent, Jessica Le Gall, Jenny Morton, Derek Lim, Guylene Le Meur, Celia Zazo Seco, Dimitra Zafeiropoulou, Dorine Bax, Petra Zwijnenburg, Anara Arteche, Saoud Tahsin Swafiri, Ruth Cleaver, Meriel McEntagart, Usha Kini, William Newman, Carmen Ayuso, Marta Corton, Yvan Herenger, Mederic Jeanne, Patrick Calvas, Nicolas Chassaing
Article
Genetics & Heredity
Eline Overwater, Luisa Marsili, Marieke J. H. Baars, Annette F. Baas, Irma van de Beek, Eelco Dulfer, Johanna M. van Hagen, Yvonne Hilhorst-Hofstee, Marlies Kempers, Ingrid P. Krapels, Leonie A. Menke, Judith M. A. Verhagen, Kak K. Yeung, Petra J. G. Zwijnenburg, Maarten Groenink, Peter van Rijn, Marjan M. Weiss, Els Voorhoeve, J. Peter van Tintelen, Arjan C. Houweling, Alessandra Maugeri
Letter
Genetics & Heredity
Tim G. J. de Meij, Petra J. G. Zwijnenburg, Chantal J. M. Broers, Arend Bokenkamp
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2019)
Article
Genetics & Heredity
Elliot S. Stolerman, Elizabeth Francisco, Jennifer L. Stallworth, Julie R. Jones, Kristin G. Monaghan, Jennifer Keller-Ramey, Richard Person, Ingrid M. Wentzensen, Kirsty McWalter, Boris Keren, Benedicte Heron, Caroline Nava, Delphine Heron, Katherine Kim, Barbara Burton, Fatima Al-Musafri, Lauren O'Grady, Inderneel Sahai, Luis F. Escobar, Marije Meuwissen, Edwin Reyniers, Frank Kooy, Yves Lacassie, Meral Gunay-Aygun, Krista Sondergaard Schatz, Ron Hochstenbach, Petra J. G. Zwijnenburg, Quinten Waisfisz, Marjon van Slegtenhorst, Grazia M. S. Mancini, Raymond J. Louie
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2019)
Article
Neurosciences
Brett Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman, Michelle Sanchez Vega, Atma Ivancevic, Alison Gardner, Deepti Domingo, Mark Corbett, Euan Parnell, Sehyoun Yoon, Tracey Oh, Matthew Lines, Henrietta Lefroy, Usha Kini, Margot Van Allen, Sabine Gronborg, Sandra Mercier, Sebastien Kury, Stephane Bezieau, Laurent Pasquier, Martine Raynaud, Alexandra Afenjar, Thierry Billette de Villemeur, Boris Keren, Julie Desir, Lionel Van Maldergem, Martina Marangoni, Nicola Dikow, David A. Koolen, Peter M. VanHasselt, Marjan Weiss, Petra Zwijnenburg, Joaquim Sa, Claudia Falcao Reis, Carlos Lopez-Otin, Olaya Santiago-Fernandez, Alberto Fernandez-Jaen, Anita Rauch, Katharina Steindl, Pascal Joset, Amy Goldstein, Suneeta Madan-Khetarpal, Elena Infante, Elaine Zackai, Carey Mcdougall, Vinodh Narayanan, Keri Ramsey, Saadet Mercimek-Andrews, Loren Pena, Vandana Shashi, Kelly Schoch, Jennifer A. Sullivan, Filippo Pinto E Vairo, Pavel N. Pichurin, Sarah A. Ewing, Sarah S. Barnett, Eric W. Klee, M. Scott Perry, Mary Kay Koenig, Catherine E. Keegan, Jane L. Schuette, Stephanie Asher, Yezmin Perilla-Young, Laurie D. Smith, Jill A. Rosenfeld, Elizabeth Bhoj, Paige Kaplan, Dong Li, Renske Oegema, Ellen van Binsbergen, Bert van der Zwaag, Marie Falkenberg Smeland, Ioana Cutcutache, Matthew Page, Martin Armstrong, Angela E. Lin, Marcie A. Steeves, Nicolette den Hollander, Mariette J. Hoffer, Margot R. F. Reijnders, Serwet Demirdas, Daniel C. Koboldt, Dennis Bartholomew, Theresa Mihalic Mosher, Scott E. Hickey, Christine Shieh, Pedro A. Sanchez-Lara, John M. Graham, Kamer Tezcan, G. B. Schaefer, Noelle R. Danylchuk, Alexander Asamoah, Kelly E. Jackson, Naomi Yachelevich, Margaret Au, Luis A. Perez-Jurado, Tjitske Kleefstra, Peter Penzes, Stephen A. Wood, Thomas Burne, Tyler Mark Pierson, Michael Piper, Jozef Gecz, Lachlan A. Jolly, Maria T. Acosta, David R. Adams, Aaron Aday, Mercedes E. Alejandro, Patrick Allard, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Guney Bademci, Eva Baker, Ashok Balasubramanyam, Dustin Baldridge, Deborah Barbouth, Gabriel F. Batzli, Alan H. Beggs, Hugo J. Bellen, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, David P. Bick, Camille L. Birch, Stephanie Bivona, Carsten Bonnenmann, Devon Bonner, Braden E. Boone, Bret L. Bostwick, Lauren C. Briere, Elly Brokamp, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Olveen Carrasquillo, Ta Chen Peter Chang, Hsiao-Tuan Chao, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D'Souza, Surendra Dasari, Mariska Davids, Jean M. Davidson, Jyoti G. Dayal, Esteban C. Dell'Angelica, Shweta U. Dhar, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, Annika M. Dries, Laura Duncan, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Gregory M. Enns, Cecilia Esteves, Tyra Estwick, Liliana Fernandez, Carlos Ferreira, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, Noah D. Friedman, William A. Gahl, Rena A. Godfrey, Alica M. Goldman, David B. Goldstein, Jean-Philippe F. Gourdine, Alana Grajewski, Catherine A. Groden, Andrea L. Gropman, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Frances High, Ingrid A. Holm, Jason Hom, Alden Huang, Yong Huang, Rosario Isasi, Fariha Jamal, Yong-hui Jiang, Jean M. Johnston, Angela L. Jones, Lefkothea Karaviti, Emily G. Kelley, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Deborah Krakow, Donna M. Krasnewich, Susan Korrick, Mary Koziura, Joel B. Krier, Jennifer E. Kyle, Seema R. Lalani, Byron Lam, Brendan C. Lanpher, Ian R. Lanza, C. Christopher Lau, Jozef Lazar, Kimberly LeBlanc, Brendan H. Lee, Hane Lee, Roy Levitt, Shawn E. Levy, Richard A. Lewis, Sharyn A. Lincoln, Pengfei Liu, Xue Zhong Liu, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Marta M. Majcherska, May Christine Malicdan, Laura A. Mamounas, Teri A. Manolio, Thomas C. Markello, Ronit Marom, Martin G. Martin, Julian A. Martinez-Agosto, Shruti Marwaha, Thomas May, Jacob McCauley, Allyn McConkie-Rosell, Colleen E. McCormack, Alexa T. McCray, Jason D. Merker, Thomas O. Metz, Matthew Might, Eva Morava-Kozicz, Paolo M. Moretti, Marie Morimoto, John J. Mulvihill, David R. Murdock, Avi Nath, Stan F. Nelson, J. Scott Newberry, John H. Newman, Sarah K. Nicholas, Donna Novacic, Devin Oglesbee, James P. Orengo, Stephen Pak, J. Carl Pallais, Christina G. S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Genecee Renteri, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Robb K. Rowley, Ralph Sacco, Jacinda B. Sampson, Susan L. Samson, Mario Saporta, Judy Schaechter, Timothy Schedl, Daryl A. Scott, Lisa Shakachite, Prashant Sharma, Kathleen Shields, Jimann Shin, Rebecca Signer, Catherine H. Sillari, Edwin K. Silverman, Janet S. Sinsheimer, Kevin S. Smith, Lilianna Solnica-Krezel, Rebecca C. Spillmann, Joan M. Stoler, Nicholas Stong, David A. Sweetser, Cecelia P. Tamburro, Queenie K-G Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Tiina K. Urv, Tiphanie P. Vogel, Daryl M. Waggott, Colleen E. Wahl, Nicole M. Walley, Chris A. Walsh, Melissa Walker, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Katrina M. Waters, M. Bobbie-Jo, Webb-Robertson, Daniel Wegner, Monte Wester Field, Matthew T. Wheeler, Anastasia L. Wise, Lynne A. Wolfe, Jeremy D. Woods, Elizabeth A. Worthey, Shinya Yamamoto, John Yang, Amanda J. Yoon, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, Stephan Zuchner
BIOLOGICAL PSYCHIATRY
(2020)
Editorial Material
Acoustics
J. R. Lam, B. Liu, R. Bhate, N. Fenwick, K. Reed, J. M. N. Duffy, A. Khalil, H. Bartley, A. Baschat, M. Bennasar Sans, R. Bhate, C. Bolch, J. Craig, J. Denton, J. M. N. Duffy, S. Ernst-Milner, N. Fenwick, M. Gevers, S. Griffith, J. Harris, M. Harvey, H. Hayward, K. Hecher, K. Heinonen, A. Johnson, J. Kesek, A. Khalil, M. Kilby, J. R. Lam, L. Lewi, C. Lister, E. Lopriore, M. Rankin, S. Shetty, M. Stammler-Safar, A. Tenberge, S. Twitchen, M. Twitchen, M. Umstad, H. Valensise, J. van Klink, B. Vollmer, S. Windsor, K. Wood, P. Zwijnenburg
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2019)
Article
Ophthalmology
Annabel L. W. Groot, Maayke M. P. Kuijten, Jelmer Remmers, Asra Gilani, Daphne L. Mourits, Elke Kraal-Biezen, Pim de Graaf, Petra J. Zwijnenburg, Annette C. Moll, Stevie Tan, Peerooz Saeed, Dyonne T. Hartong
ACTA OPHTHALMOLOGICA
(2020)
Article
Multidisciplinary Sciences
Laure Asselin, Jose Rivera Alvarez, Solveig Heide, Camille S. Bonnet, Peggy Tilly, Helene Vitet, Chantal Weber, Carlos A. Bacino, Kristin Baranano, Anna Chassevent, Amy Dameron, Laurence Faivre, Neil A. Hanchard, Sonal Mahida, Kirsty McWalter, Cyril Mignot, Caroline Nava, Agnes Rastetter, Haley Streff, Christel Thauvin-Robinet, Marjan M. Weiss, Gladys Zapata, Petra J. G. Zwijnenburg, Frederic Saudou, Christel Depienne, Christelle Golzio, Delphine Heron, Juliette D. Godin
NATURE COMMUNICATIONS
(2020)
Article
Genetics & Heredity
Pauline E. Schneeberger, Leonie von Elsner, Emma L. Barker, Peter Meinecke, Iris Marquardt, Malik Alawi, Katharina Steindl, Pascal Joset, Anita Rauch, Petra J. G. Zwijnenburg, Marjan M. Weiss, Catherine L. R. Merry, Kerstin Kutsche
AMERICAN JOURNAL OF HUMAN GENETICS
(2020)
Article
Genetics & Heredity
Sacha Ferdinandusse, Kirsty McWalter, Heleen te Brinke, Lodewijk Ijlst, Petra M. Mooijer, Jos P. N. Ruiter, Alida E. M. van Lint, Mia Pras-Raves, Eric Wever, Francisca Millan, Maria J. Guillen Sacoto, Amber Begtrup, Mark Tarnopolsky, Lauren Brady, Roger L. Ladda, Susan L. Sell, Catherine B. Nowak, Jessica Douglas, Cuixia Tian, Elizabeth Ulm, Seth Perlman, Arlene V. Drack, Karen Chong, Nicole Martin, Jennifer Brault, Elly Brokamp, Camilo Toro, William A. Gahl, Ellen F. Macnamara, Lynne Wolfe, Quinten Waisfisz, Petra J. G. Zwijnenburg, Alban Ziegler, Magalie Barth, Rosemarie Smith, Sara Ellingwood, Deborah Gaebler-Spira, Somayeh Bakhtiari, Michael C. Kruer, Antoine H. C. van Kampen, Ronald J. A. Wanders, Hans R. Waterham, David Cassiman, Frederic M. Vaz
Summary: The study found that de novo variants affecting the Arg480 residue of FAR1 lead to an autosomal dominant disorder with a different disease mechanism than that of recessive FAR1 deficiency. FAR1 deficiency causes defective ether lipid synthesis, while the de novo variants result in elevated plasmalogen levels. Further functional studies in fibroblasts revealed disruption of plasmalogen-dependent feedback regulation of FAR1 protein levels.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Caroline Dias, Rolph Pfundt, Tjitske Kleefstra, Janneke Shuurs-Hoeijmakers, Elles M. J. Boon, Johanna M. van Hagen, Petra Zwijnenburg, Marjan M. Weiss, Boris Keren, Cyril Mignot, Arnaud Isapof, Karin Weiss, Tova Hershkovitz, Maria Iascone, Silvia Maitz, Rene G. Feichtinger, Dieter Kotzot, Johannes A. Mayr, Tawfeg Ben-Omran, Laila Mahmoud, Lynn S. Pais, Christopher A. Walsh, Vandana Shashi, Jennifer A. Sullivan, Nicholas Stong, Francois Lecoquierre, Anne-Marie Guerrot, Aude Charollais, Lance H. Rodan
Summary: Mutations in the TCF7L2 gene are associated with developmental delays, intellectual disabilities, eye problems, craniofacial abnormalities, and neuropsychiatric comorbidities such as autism and ADHD. However, most patients eventually achieve normal intelligence. Research on TCF7L2 variations will have significant implications for medical management and future studies.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Allan Bayat, Michael Bayat, Chantal Broers, Abeltje M. Polstra, Petra J. G. Zwijnenburg, Tina Duelund Hjortshoj
Summary: Microdeletions at 5q11.2 are rare and show a phenotypic spectrum similar to CHARGE syndrome and 22q11.2 deletion syndrome. DHX29 and IL6ST have been proposed as candidate genes for the major clinical manifestations. Research suggests that the syndrome may result from a combined impact of several genes.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Correction
Genetics & Heredity
Sacha Ferdinandusse, Kirsty McWalter, Heleen te Brinke, Lodewijk Ijlst, Petra M. Mooijer, Jos P. N. Ruiter, Alida E. M. van Lint, Mia Pras-Raves, Eric Wever, Francisca Millan, Maria J. Guillen Sacoto, Amber Begtrup, Mark Tarnopolsky, Lauren Brady, Roger L. Ladda, Susan L. Sell, Catherine B. Nowak, Jessica Douglas, Cuixia Tian, Elizabeth Ulm, Seth Perlman, Arlene V. Drack, Karen Chong, Nicole Martin, Jennifer Brault, Elly Brokamp, Camilo Toro, William A. Gahl, Ellen F. Macnamara, Lynne Wolfe, Quinten Waisfisz, Petra J. G. Zwijnenburg, Alban Ziegler, Magalie Barth, Rosemarie Smith, Sara Ellingwood, Deborah Gaebler-Spira, Somayeh Bakhtiari, Michael C. Kruer, Antoine H. C. van Kampen, Ronald J. A. Wanders, Hans R. Waterham, David Cassiman, Frederic M. Vaz
GENETICS IN MEDICINE
(2021)
Article
Pediatrics
Cunera M. C. de Beaufort, Alex C. M. van den Akker, Caroline F. Kuijper, Chantal J. M. Broers, Justin R. de Jong, Sjoerd A. de Beer, Bart Straver, Petra J. G. Zwijnenburg, Ramon R. Gorter
Summary: This retrospective cohort study analyzed 217 neonates with anorectal malformations (ARM) and found that 77.3% of the children underwent VACTERL screening, with 61.7% of them having additional anomalies. 16.2% of the children met the criteria for VACTERL-association, and 17.1% were found to have a genetic cause or syndrome. This study emphasizes the importance of routine screening.
JOURNAL OF PEDIATRIC SURGERY
(2023)
Article
Pediatrics
Adinda G. H. Pijpers, Laurens D. Eeftinck D. Schattenkerk, Bart Straver, Petra J. G. Zwijnenburg, Chantal J. M. Broers, Ernest L. W. Van Heurn, Ramon R. Gorter, Joep P. M. Derikx
Summary: This study found that half of patients with duodenal obstruction had associated anomalies, with cardiac anomalies and trisomy 21 being the most common. Four patients were found to have the VACTERL spectrum. Trisomy 21 was identified as a significant risk factor for cardiac anomalies.