Article
Medicine, General & Internal
Agnieszka Bartczak-Rutkowska, Lidia Tomkiewicz-Pajak, Katarzyna Kawka-Paciorkowska, Natalia Bajorek, Aleksandra Cieplucha, Mariola Ropacka-Lesiak, Olga Trojnarska
Summary: A study investigated the maternal and fetal outcomes of women who had undergone the Fontan procedure in two Polish medical centers. Among 26 pregnancies, 11 ended in miscarriages and 15 resulted in 16 live births. Fetal complications were observed in 9 live births, with prematurity being the most common. Obstetrical complications occurred in 6 pregnancies, including placental abruption, premature rupture of membranes, and antepartum hemorrhage. Specialized care from experienced cardiologists and obstetricians is necessary for these women.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Surgery
Juliet Emamaullee, Sean Martin, Cameron Goldbeck, Brittany Rocque, Arianna Barbetta, Rohit Kohli, Vaughn Starnes
Summary: This study analyzed the long-term outcomes of patients post-Fontan procedure and found an increased all-cause mortality in Hispanic population and a correlation between the incidence of FALD and age. This emphasizes the need for specific liver surveillance strategies in patients post-Fontan.
Review
Pediatrics
Johanna Calderon, Jane W. Newburger, Caitlin K. Rollins
Summary: Children, adolescents, and adults living with Fontan circulation face various neurological and developmental challenges. They may experience difficulties in cognition, visual spatial reasoning, and psychosocial development, as well as being at high risk for mental health disorders. Hemodynamic risk factors during fetal development can influence brain growth and development, leading to abnormal outcomes. Other factors such as brain injuries and surgical procedures also play a detrimental role in neurodevelopmental prognosis. Therefore, prevention and intervention are crucial in optimizing long-term outcomes for this vulnerable population.
FRONTIERS IN PEDIATRICS
(2022)
Article
Pediatrics
Tanusha D. Ramdin, Robin T. Saggers, Rossella M. Bandini, Yoliswa Magadla, Aripfani V. Mphaphuli, Daynia E. Ballot
Summary: This study describes the neurodevelopmental outcomes of extremely low birth weight infants in a neonatal unit in South Africa. The results show that the surviving infants had normal cognitive, language, and motor development. However, these results need to be interpreted cautiously due to the high mortality rate in this group of infants.
FRONTIERS IN PEDIATRICS
(2022)
Article
Cardiac & Cardiovascular Systems
Christopher Anigwe, Vidhushei Yogeswaran, Anita Moon-Grady, Sophie McAllister, Anika Aggarwal, Sarah Blissett, Ian S. Harris, Peter C. Kouretas, Vaikom S. Mahadevan, Aarthi Sabanayagam, Anushree Agarwal
Summary: This study aimed to identify factors associated with adverse outcomes in adult survivors with TCPC Fontan palliation. Extracardiac Fontan was found to be an independent risk factor for adverse outcomes, providing guidance for clinicians to improve long-term outcomes in these patients through risk modification strategies and management decisions.
Article
Pediatrics
Nadia Battajon, Chiara Bechini, Federica De Osti, Anna Galletti, Anna Chiara Frigo, Paola Lago
Summary: This study analyzed the neurodevelopmental outcomes of very low birth weight infants admitted to the Treviso Neonatal Intensive Care Unit. The results showed that more than half of the children without disabilities at two years old had motor and cognitive deficits at four years old, which affected their learning and behavior.
ITALIAN JOURNAL OF PEDIATRICS
(2023)
Article
Cardiac & Cardiovascular Systems
Kei Inai, Ryo Inuzuka, Hiroshi Ono, Masaki Nii, Shinichi Ohtsuki, Yoshihiko Kurita, Atsuhito Takeda, Keiichi Hirono, Kohta Takei, Satoshi Yasukouchi, Tadahiro Yoshikawa, Yoshiyuki Furutani, Eriko Shimada, Tokuko Shinohara, Tomohiro Shinozaki, Yutaka Matsuyama, Hideaki Senzaki, Toshio Nakanishi
Summary: This study aimed to identify the risk factors for mortality among haemodynamic parameters obtained early after the Fontan operation. The study found that older age, low ejection fraction, low oxygen saturation, high central venous pressure, and low mean systemic arterial pressure were independent predictors of mortality.
EUROPEAN HEART JOURNAL
(2022)
Article
Cardiac & Cardiovascular Systems
Thomas G. Wilson, Ajay J. Iyengar, Dominica Zentner, Diana Zannino, Yves d'Udekem, Igor E. Konstantinov
Summary: Liver cirrhosis is a potential complication after the Fontan procedure, and the study aims to identify the associated risk factors and optimal timing of liver screening.
ANNALS OF THORACIC SURGERY
(2023)
Article
Cardiac & Cardiovascular Systems
Varun J. Sharma, Ajay J. Iyengar, Diana Zannino, Thomas Gentles, Robert Justo, David S. Celermajer, Andrew Bullock, David Winlaw, Gavin Wheaton, Luke Burchill, Rachael Cordina, Yves D'Udekem
Summary: Protein losing enteropathy and plastic bronchitis are severe complications in Fontan circulation, mainly affecting patients with dominant right single ventricle, with older age being a predictor of developing these diseases and having a poorer prognosis. Heart transplantation remains the ultimate treatment option, with 30% of patients either dying or requiring transplantation within 5 years.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2021)
Article
Cardiac & Cardiovascular Systems
Shahryar M. Chowdhury, Eric M. Graham, Carolyn L. Taylor, Andrew Savage, Kimberly E. McHugh, Stephanie Gaydos, Arni C. Nutting, Michael R. Zile, Andrew M. Atz
Summary: This study aimed to identify high-risk Fontan patients with abnormal diastolic function and preserved ejection fraction and analyze their cardiac mechanics, exercise function, and functional health status.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Medicine, General & Internal
Maciej Skubera, Aleksandra Golab, Tomasz Sternalski, Olga Trojnarska, Dariusz Plicner, Monika Smas-Suska, Anna Mazurek-Kula, Agnieszka Bartczak-Rutkowska, Jacek Pajak, Piotr Podolec, Lidia Tomkiewicz-Pajak
Summary: This multicenter study investigated the incidence of thromboembolic complications (TECs) in adult patients after Fontan (FO) surgery. The study found that 23.1% of FO patients had a history of TECs, with pulmonary embolism being the most common complication. The results suggest that TECs occur at a higher rate in FO patients than expected.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Makoto Miyake, Jiro Sakamoto, Hirokazu Kondo, Atsushi Iwakura, Hiraku Doi, Toshihiro Tamura
Summary: This study aimed to investigate the long-term outcomes of patients with single-ventricle physiology after the Glenn procedure without the subsequent Fontan procedure. The study found that the 40-year overall survival after the Glenn procedure in patients with single-ventricle physiology was 40.3%. Dominant left ventricular morphology may be associated with better long-term overall survival than dominant right ventricular morphology.
EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY
(2023)
Article
Obstetrics & Gynecology
Vinod Kumar, Praveen Kumar, Venkataseshan Sundaram, Sanjay Kumar Munjal, Prahbhjot Malhi, Naresh Kumar Panda
Summary: The majority of survivors of acute bilirubin encephalopathy experienced adverse outcomes during childhood, mainly manifesting as cerebral palsy and sensori-neural hearing loss. Cognitive functions were better preserved compared to language and general development in affected children.
EARLY HUMAN DEVELOPMENT
(2021)
Article
Pediatrics
Rhandi Christensen, Vann Chau, Anne Synnes, Ruth E. Grunau, Steven P. Miller
Summary: Neurodevelopmental outcomes in preterm twins are more strongly influenced by environmental factors than genetics. Discordant twin pairs, born earlier with more perinatal morbidities, become more similar in cognitive and language outcomes over time, possibly reflecting the positive impact of early intervention programs or home environment.
PEDIATRIC RESEARCH
(2021)
Article
Cardiac & Cardiovascular Systems
Brian W. McCrindle, Alan D. Michelson, Andrew H. Van Bergen, Estela Suzana Horowitz, Juan Pablo Sandoval, Henri Justino, Kevin C. Harris, John L. Jefferies, Liza Miriam Pina, Colleen Peluso, Kimberly Nessel, Wentao Lu, Jennifer S. Li
Summary: The UNIVERSE Study evaluated the efficacy and safety of liquid rivaroxaban versus acetylsalicylic acid in preventing thrombotic events in patients with single-ventricle physiology post-Fontan. The study found that participants receiving rivaroxaban had a better safety profile and fewer thrombotic events compared to those in the ASA group, although the difference was not statistically significant.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Neurosciences
Ania M. Fiksinski, Carrie E. Bearden, Anne S. Bassett, Rene S. Kahn, Janneke R. Zinkstok, Stephen R. Hooper, Wanda Tempelaar, Donna McDonald-McGinn, Ann Swillen, Beverly Emanue, Bernice Morrow, Raquel Gur, Eva Chow, Marianne van den Bree, Joris Vermeesch, Stephen Warren, Michael Owen, Therese van Amelsvoor, Stephan Eliez, Doron Gothelf, Arango Celso, Wendy Kates, Tony Simon, Kieran Murphy, Gabriela Repetto, Damian Heine Sune, Stefano Vicar, Joseph Cubells, Marco Armando, Nicole Philip, Linda Campbell, Sixto Garcia-Minaur, Maude Schneider, Vandana Shashi, Jacob Vorstman, Elemi J. Breetvelt
Summary: Pathogenic genetic variants can impact cognitive development, and understanding variant-specific cognitive trajectories is important for identifying patients at risk for comorbid conditions. A study on individuals with 22q11.2 deletion syndrome (22q11DS) demonstrated that using variant-specific IQ-Z-scores resulted in a 30% decrease of required sample size compared to standard IQ-based approaches to detect the association between IQ decline and schizophrenia risk. This approach may facilitate a more clinically informative interpretation of IQ data by identifying individuals deviating from their expected cognitive trajectories.
NEUROPSYCHOPHARMACOLOGY
(2022)
Article
Allergy
T. Blaine Crowley, Ian M. Campbell, Emily J. Liebling, Michele P. Lambert, Lorraine E. Levitt Katz, Jennifer Heimall, Alice Bailey, Daniel E. McGinn, Donna M. McDonald McGinn, Kathleen E. Sullivan
Summary: This study investigates immune parameters associated with autoimmunity and atopy in 22q11.2 deletion syndrome and identifies potential biomarkers for immune-mediated disease in this syndrome.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Eli J. Cornblath, Arun Mahadevan, Xiaosong He, Kosha Ruparel, David M. Lydon-Staley, Tyler M. Moore, Ruben C. Gur, Elaine H. Zackai, Beverly Emanuel, Donna M. McDonald-McGinn, Daniel H. Wolf, Theodore D. Satterthwaite, David R. Roalf, Raquel E. Gur, Dani S. Bassett
Summary: Individuals with 22q11.2DS show diminished delayed frontal-motor feedback signals and emotional memory signals, while early engagement of motor and visual cortices and insular activation are relatively preserved. Differences in cortical surface area, but not cortical thickness, align with an activation pattern associated with face processing in individuals with 22q11.2DS, indicating intact primary visual processing and insular function, but more affected motor feedback, face processing, and emotional memory processes.
MOLECULAR PSYCHIATRY
(2022)
Article
Surgery
Giap H. Vu, Clara Warden, Carrie E. Zimmerman, Christopher L. Kalmar, Laura S. Humphries, Donna M. McDonald-McGinn, Oksana A. Jackson, David W. Low, Jesse A. Taylor, Jordan W. Swanson
Summary: The relationship between poverty and incidence of cleft lip and cleft palate is explored in this study. Different socioeconomic indicators are associated with different types of orofacial clefts. Early prenatal care is found to be protective against the development of cleft lip with or without cleft palate.
PLASTIC AND RECONSTRUCTIVE SURGERY
(2022)
Article
Neurosciences
J. Eric Schmitt, John J. DeBevits, David R. Roalf, Kosha Ruparel, R. Sean Gallagher, Ruben C. Gur, Aaron Alexander-Bloch, Tae-Yeon Eom, Shahinur Alam, Jeffrey Steinberg, Walter Akers, Khaled Khairy, T. Blaine Crowley, Beverly Emanuel, Stanislav S. Zakharenko, Donna M. McDonald-McGinn, Raquel E. Gur
Summary: The presence of a 22q11.2 microdeletion (22q11.2 deletion syndrome [22q11DS]) is a significant genetic risk factor for psychotic disorders. The cerebellum is implicated in the pathophysiology of psychosis, but there is limited information on cerebellar neuroanatomy in 22q11DS specifically.
BIOLOGICAL PSYCHIATRY-COGNITIVE NEUROSCIENCE AND NEUROIMAGING
(2023)
Article
Education, Special
L. K. White, T. B. Crowley, B. Finucane, S. Garcia-Minaur, G. M. Repetto, M. van den Bree, M. Fischer, S. Jacquemont, R. Barzilay, A. M. Maillard, K. A. Donald, R. E. Gur, A. S. Bassett, A. Swillen, D. M. McDonald-McGinn
Summary: This article examines the worries and medical care disruptions of individuals with 22q11.2 deletion and duplication syndrome during the COVID-19 pandemic. The survey results show that individuals are most worried about family members acquiring COVID-19, and worries are higher towards the end of the pandemic. A significant proportion of the sample reported significant health effects due to care interruption caused by the pandemic.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
(2022)
Article
Cardiac & Cardiovascular Systems
Tracy R. Geoffrion, David Goldberg, T. Blaine Crowley, Jonathan M. Chen, Donna M. McDonald-McGinn, J. William Gaynor
Summary: 22q11.2 copy number variants are associated with congenital heart disease (CHD), particularly as a variant of hypoplastic left heart syndrome. CHD requiring single ventricle reconstruction in association with chromosome 22q copy number variants is rare, with Norwood operation being the most common surgical intervention. Patients may experience additional anomalies and medical issues after cardiac surgery, but survival rates are similar to infants with other types of single ventricle disease.
CARDIOLOGY IN THE YOUNG
(2023)
Article
Gastroenterology & Hepatology
Rebecca E. Kotcher, Daniel B. Chait, Jason M. Heckert, T. Blaine Crowley, Kimberly A. Forde, Nitin K. Ahuja, Maria R. Mascarenhas, Beverly S. Emanuel, Elaine H. Zackai, Donna M. McDonald-McGinn, James C. Reynolds
Summary: This study aimed to investigate the lifetime gastrointestinal problems in patients with 22q11.2 deletion syndrome. The results showed that most patients experienced chronic gastrointestinal symptoms, while congenital gastrointestinal malformations and gastrointestinal autoimmune diseases were rare. Chronic symptoms in adulthood were associated with other chronic gastrointestinal symptoms and psychiatric comorbidities.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
(2022)
Article
Genetics & Heredity
Ian M. Campbell, T. Blaine Crowley, Chintan Jobaliya, Alice Bailey, Daniel E. McGinn, Kimberly Gaiser, Anne Bassett, Raquel E. Gur, Bernice Morrow, Beverly S. Emanuel, Aime T. Franco, Deborah French, Elaine H. Zackai, Donna M. McDonald-McGinn, Michele P. Lambert
Summary: Prior studies have shown that patients with 22q11.2 deletion syndrome (22q11.2DS) have lower platelet counts and increased mean platelet volume. This is believed to be caused by haploinsufficiency of the GPIBB gene. In this study of 825 patients with 22q11.2DS, the researchers examined platelet parameters, deletion size, and other factors known to affect counts. They found that the major determinant of platelet count was the deletion status of the GP1BB gene. Patients with nested distal deletions had higher platelet counts than those with proximal deletions. Additionally, patients with 22q11.2DS showed an accelerated decrease in platelet count during childhood. These findings suggest that age and deletion size should be considered when determining platelet count reference ranges for 22q11.2DS populations.
Article
Genetics & Heredity
Hayley A. Ron, Terrence Blaine Crowley, Yichuan Liu, Marta Unolt, Erica Schindewolf, Julie Moldenhauer, Jack Rychik, Elizabeth Goldmuntz, Beverly S. Emanuel, Douglas Ryba, James William Gaynor, Elaine H. Zackai, Hakon Hakonarson, Donna M. McDonald-McGinn
Summary: Interruption of the aortic arch (IAA) is a rare but life-threatening congenital heart defect. IAA type B is highly correlated with 22q11.2 deletion syndrome (22q11.2DS), with approximately 50% of patients with IAA type B also having 22q11.2DS. Early diagnosis and treatment of IAA can prevent severe complications and death. However, it is challenging to diagnose IAA prenatally or in the neonatal period.
Article
Genetics & Heredity
Natalie Blagowidow, Beata Nowakowska, Erica Schindewolf, Francesca Romana Grati, Carolina Putotto, Jeroen Breckpot, Ann Swillen, Terrence Blaine Crowley, Joanne C. Y. Loo, Lauren A. Lairson, Solveig Oskarsdottir, Erik Boot, Sixto Garcia-Minaur, Maria Cristina Digilio, Bruno Marino, Beverly Coleman, Julie S. Moldenhauer, Anne S. Bassett, Donna M. McDonald-McGinn
Summary: Early diagnosis of chromosome 22q11.2 microdeletion and its associated deletion syndrome is important. Prenatal diagnostic testing is recommended for parents or children with the microdeletion or suggestive prenatal screening results. Genetic testing using a chromosomal microarray can detect clinically relevant microdeletions. Noninvasive prenatal screening and imaging are available screening options. NIPS has a high detection rate, while prenatal imaging can detect physical features associated with the syndrome.
Article
Genetics & Heredity
Lauren K. White, T. Blaine Crowley, Brenda Finucane, Emily J. McClellan, Sarah Donoghue, Sixto Garcia-Minaur, Gabriela M. Repetto, Matthias Fischer, Sebastien Jacquemont, Raquel E. Gur, Anne M. Maillard, Kirsten A. Donald, Anne S. Bassett, Ann Swillen, Donna M. McDonald-McGinn
Summary: This study investigated the motivation and opinions of individuals and caregivers affected by CNVs regarding research participation. It also examined their feelings of preparedness, research burden, and satisfaction. Results showed that education and altruism were the top reasons for participation, while treatment risks and side effects were the main reasons for withdrawal. Most participants reported positive research experiences.
Article
Genetics & Heredity
Jente Verbesselt, Cynthia B. Solot, Ellen van den Heuvel, T. Blaine Crowley, Victoria Giunta, Jeroen Breckpot, Donna M. McDonald-McGinn, Inge Zink, Ann Swillen
Summary: By comparing the language abilities of individuals with 22q11.2Dup syndrome (a chromosomal duplication) and 22q11.2DS syndrome (a chromosomal deletion), this study found that children with 22q11.2Dup have significantly more language problems than those with 22q11.2DS. Both syndromes were associated with impairments in language comprehension, expression, lexico-semantic, and morphosyntactic domains. Therefore, early identification, therapeutic intervention, and follow-up are recommended to support language development and minimize the long-term impact of language and communicative deficits in children with 22q11.2Dup.
Article
Genetics & Heredity
Marta Smyk, Maciej Geremek, Kamila Ziemkiewicz, Tomasz Gambin, Anna Kutkowska-Kazmierczak, Katarzyna Kowalczyk, Izabela Plaskota, Barbara Wisniowiecka-Kowalnik, Magdalena Bartnik-Glaska, Magdalena Niemiec, Dominika Grad, Malgorzata Piotrowicz, Dorota Gieruszczak-Bialek, Aleksandra Pietrzyk, T. Blaine Crowley, Victoria Giunta, Daniel E. McGinn, Elaine H. Zackai, Oanh Tran, Beverly S. Emanuel, Donna M. McDonald-McGinn, Beata A. Nowakowska
Summary: This study investigated the impact of additional genomic variants on the clinical presentation of patients with 22q11.2 deletion syndrome. Findings showed that 6.3% of patients had pathogenic or likely pathogenic copy number variants outside of the 22q11.2 region, indicating their contribution to the clinical phenotype. Furthermore, exome sequencing revealed pathogenic and likely pathogenic single nucleotide variants and small copy number variants in 3.49% and 5.81% of patients, respectively. These results highlight the importance of genome-wide approaches in identifying clinically relevant changes in individuals with 22q11 deletion syndrome.
Article
Pediatrics
Patrick E. McGovern, T. Blaine Crowley, Elaine H. Zackai, Evanette Burrows, Donna M. McDonald-McGinn, Michael L. Nance
Summary: Patients with 22q11.2 deletion syndrome often require surgical evaluation and intervention for common issues such as GERD and feeding difficulties. General surgeons commonly perform interventions such as gastrostomy tube placement, anorectal procedures, and hernia repairs in this population.
PEDIATRIC SURGERY INTERNATIONAL
(2022)
