Article
Genetics & Heredity
Hiromi Aoi, Takeshi Mizuguchi, Toshifumi Suzuki, Shintaro Makino, Yuka Yamamoto, Jun Takeda, Yojiro Maruyama, Rie Seyama, Shiori Takeuchi, Yuri Uchiyama, Yoshiteru Azuma, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Satomi Mitsuhashi, Atsushi Takata, Noriko Miyake, Satoru Takeda, Atsuo Itakura, Naomichi Matsumoto
Summary: This study evaluated the efficacy of whole exome sequencing (WES) for genetic diagnosis in cases with fetal structural anomalies detected by ultrasonography. The study found that fetal phenotype alone could identify potential genetic variants, but combining postnatal phenotype information could improve diagnostic rates. It emphasizes the importance of detailed phenotyping for better diagnostic rates in WES analysis.
JOURNAL OF HUMAN GENETICS
(2021)
Article
Clinical Neurology
Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J. Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah Morris-Rosendahl, Greta Conti, Nipa Mitra, F. Lucy Raymond, David H. Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valerie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio
Summary: BRAT1 encephalopathy is an ultra-rare autosomal recessive neonatal encephalopathy characterized by multifocal myoclonus, microcephaly, hypertonia, and multifocal seizures. Early recognition of BRAT1 encephalopathy is crucial for prompt workup, appropriate management, and genetic counseling.
Review
Medicine, General & Internal
Dagmar K. Tiemens, Leenke van Haaften, Erika Leenders, Annemiek M. J. van Wegberg, Bregtje Gunther Moor, Joyce Geelen, Jos M. T. Draaisma
Summary: Noonan syndrome patients often experience feeding problems in infancy and childhood, which can significantly affect their quality of life. The mechanisms behind these problems are complex, and the treatment requires a multidisciplinary approach.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Genetics & Heredity
Aldesia Provenzano, Andrea La Barbera, Mirko Scagnet, Angelica Pagliazzi, Giovanna Traficante, Marilena Pantaleo, Lucia Tiberi, Debora Vergani, Nehir Edibe Kurtas, Silvia Guarducci, Sara Bargiacchi, Giulia Forzano, Rosangela Artuso, Viviana Palazzo, Ada Kura, Flavio Giordano, Daniele di Feo, Marzia Mortilla, Claudio De Filippi, Gianluca Mattei, Livia Garavelli, Betti Giusti, Lorenzo Genitori, Orsetta Zuffardi, Sabrina Giglio
Summary: The study found that the frequency of Type 1 Chiari malformation is widely underestimated, with some variants inherited from parents with C1M. This condition is mostly inherited in a dominant manner, and alterations in genes that regulate chromatin architecture may cause localized anatomical changes and symptoms of varying degrees.
Article
Multidisciplinary Sciences
Alanna Strong, Meckenzie Behr, Carina Lott, Abigail J. Clark, Frank Mentch, Renata Pellegrino Da Silva, Danielle R. Rux, Robert Campbell, Cara Skraban, Xiang Wang, Jason B. Anari, Benjamin Sinder, Patrick J. Cahill, Patrick Sleiman, Hakon Hakonarson
Summary: Thoracic insufficiency syndromes are a group of genetically and phenotypically heterogeneous disorders characterized by chest and/or vertebral abnormalities that lead to restricted lung function and compromised respiratory capacity. By conducting whole exome sequencing on 42 children with thoracic insufficiency, we identified molecular causes and predicted the progression of the disease. A significant proportion of the patients had gene mutations in components of the primary cilium, connective tissue, and extracellular matrix. We discovered a novel association between KIF7 and USP9X variants and thoracic insufficiency, expanding the understanding of genetic and phenotypic spectrum of this condition.
SCIENTIFIC REPORTS
(2023)
Article
Clinical Neurology
Paige E. Naylor, Jennifer L. Bruno, Sharon Bade Shrestha, Marcelle Friedman, Booil Jo, Allan L. Reiss, Tamar Green
Summary: This study investigated neuropsychiatric outcomes in children with Noonan syndrome and addressed limitations in previous research by focusing on prepubertal children, comparison to typically developing children, comprehensive neuropsychiatric evaluation, and controlling for overall cognitive abilities. Results showed that children with Noonan syndrome had elevated symptoms across ADHD, ASD, and ODD symptom clusters, and the group differences remained significant even after accounting for variations in intellectual functioning. The study revealed that Noonan syndrome children are at increased risk for a range of ADHD, ASD, and ODD associated symptoms, and a dimensional approach is important in assessing ASD symptoms in Noonan syndrome.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Review
Dermatology
P. H. Hoeger
Summary: Vascular malformations are caused by localized defects in vascular development and are influenced by various factors, leading to complex genotype-phenotype correlations. The differential diagnosis of VM is challenging, except for diseases with pathognomonic phenotypes, but increasing sequencing techniques will facilitate this process. Targeted pharmacotherapy shows promise for the treatment of VM patients.
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2021)
Article
Cell Biology
Guojie Zhong, Yufeng Shen
Summary: Congenital heart disease is a collection of anatomically and clinically heterogeneous structure anomalies of heart at birth, with complex and unknown genetic causes. Studying the genetic causes of CHD can provide a basis for improving clinical care and interventions.
CURRENT OPINION IN GENETICS & DEVELOPMENT
(2022)
Article
Psychiatry
Bhavana Rai, Paige E. Naylor, Monica Siqueiros-Sanchez, Max Wintermark, Mira M. Raman, Booil Jo, Allan L. Reiss, Tamar Green
Summary: This study examines the effects of Noonan syndrome on brain anatomy and cognitive-behavioral data, and reveals widespread effects on cortical and subcortical volumes. It also identifies associations between PTPN11 gene expression and cortical surface area and thickness.
TRANSLATIONAL PSYCHIATRY
(2023)
Review
Cell Biology
Maja Solman, Danielle T. J. Woutersen, Jeroen den Hertog
Summary: PTPN11 mutations are associated with rare hereditary diseases and cancer, with the SHP2 protein tyrosine phosphatase encoded by this gene playing a crucial role in embryonic development.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Jennifer L. Bruno, Sharon B. Shrestha, Allan L. Reiss, Manish Saggar, Tamar Green
Summary: Mounting evidence suggests the role of the Ras/mitogen-activated protein kinase (Ras/MAPK) pathway in neurodevelopmental disorders. This study used functional MRI to examine the impact of Ras/MAPK pathogenic variants on brain organization and cognitive phenotypes in children with Noonan syndrome (NS). The results showed hyperconnectivity within canonical brain networks in the NS group, which may represent an intermediate phenotype between Ras/MAPK pathogenic variants and cognitive phenotypes.
MOLECULAR PSYCHIATRY
(2022)
Article
Multidisciplinary Sciences
Szu-Ying Tsai, Hsin-Hao Chen, Hsin-Yin Hsu, Ming-Chieh Tsai, Le-Yin Hsu, Lee-Ching Hwang, Kuo-Liong Chien, Chien-Ju Lin, Tzu-Lin Yeh
Summary: This study in Taiwan found associations between metabolic health, weight, and the risk of atrial fibrillation (Afib). The risk of Afib was significantly higher among metabolically unhealthy overweight/obese individuals compared to metabolically healthy normal weight individuals. There was also a trend towards higher Afib risk in metabolically healthy overweight/obese individuals, but further study is needed to confirm this finding.
Article
Oncology
Sandra Huber, Torsten Haferlach, Manja Meggendorfer, Stephan Hutter, Gregor Hoermann, Constance Baer, Wolfgang Kern, Claudia Haferlach
Summary: This study found that MDS with mutated SF3B1 and blast count <5% has distinct characteristics in terms of genomic landscape, AML transformation rate, and clinical outcome. Patients who fulfilled the proposed SF3B1 entity criteria had longer survival, lower AML transformation rate, normal karyotypes, and fewer accompanying mutations compared to those who did not meet the criteria. Additionally, del(5q) and RUNX1 mutations were identified as independent negative prognostic factors for overall survival.
Article
Medical Informatics
Antonio R. Porras, Kenneth Rosenbaum, Carlos Tor-Diez, Marshall Summar, Marius George Linguraru
Summary: The study presented a machine learning-based facial deep phenotyping technology to evaluate the risk of genetic syndromes in children. Trained and tested on a diverse population's facial photographs, the technology demonstrated high accuracy and sensitivity in the overall population.
LANCET DIGITAL HEALTH
(2021)
Article
Biochemistry & Molecular Biology
Robert A. Marmion, Alison G. Simpkins, Lena A. Barrett, David W. Denberg, Susan Zusman, Jodi Schottenfeld-Roames, Trudi Schupbach, Stanislav Y. Shvartsman
Summary: Germline mutations upregulating RAS signaling are associated with diverse developmental disorders. Utilizing controlled studies in Drosophila, researchers have discovered that activating variants of MEK, a core enzyme in the RAS pathway, cause phenotypic variations due to stochastic signaling variation. By quantifying cell fate specification errors, the study sheds light on the heterogeneity of developmental disorders caused by deregulated RAS signaling and provides a framework for investigating the effects of other pathogenic alleles and mild mutations.
Article
Pediatrics
Tarun Aurora, Audrey Cole, Parul Rai, Paul Lavoie, Carrie Mcivor, Lisa M. Klesges, Guolian Kang, Janaka S. S. Liyanage, Heather M. Brandt, Jane S. Hankins
Summary: This study evaluated the effectiveness of a vaccine strategy bundle in increasing HPV vaccine initiation and completion rates in a specialty clinic setting. By implementing the bundle, which included staff education, provider incentives, offering vaccines in clinics, and verifying vaccine completion, the clinic successfully improved HPV vaccine initiation and completion rates among sickle cell disease patients.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Nienke M. Halbmeijer, Wes Onland, Jeroen Dudink, Filip Cools, Anne Debeer, Anton H. van Kaam, Manon J. N. L. Benders, Niek E. van der Aa
Summary: In ventilated infants born preterm, high dose systemic hydrocortisone initiated between 7 and 14 days after birth did not have a significant impact on brain development.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Katherine Melton, Jianfang Liu, Hossein Sadeghi, Maureen George, Arlene Smaldone
Summary: This study aims to identify predictors of change in lung function and body weight during health care transition in cystic fibrosis (CF) patients. The study findings highlight the importance of CF RISE program engagement and reducing gaps in care for improving the transition of adolescents and young adults with CF.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Laura A. Duckworth, Kimberly A. Sutton, Nurmohammad Shaikh, Jinli Wang, Carla Hall-Moore, Lori R. Holtz, Phillip I. Tarr, Ronald C. Rubenstein
Summary: The study tested the usefulness of various biomarkers as indicators of gut dysfunction in cystic fibrosis (CF) and investigated the repeatability of these measures in individuals over short periods and their correlation with clinical outcomes. The results showed that elevated levels of fLcn2 in individuals with CF may predict worsened pulmonary function.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Lindsey Haack, Nikkan Das, Arvind Hoskoppal, Mark Debrunner, Tarek Alsaied, Gaurav Arora
Summary: RAE on ECG has a low positive predictive value for RAE on echocardiogram in previously healthy young patients. The highest yield for RAE on echocardiogram was observed in patients who were <1 year of age, had RAE in the anterior precordial leads, or displayed right ventricular hypertrophy on ECG.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Michael A. Padula, Khatija Naing, Tara L. Wenger, Irfan Ahmad, Carl H. Coghill, K. Taylor Wild, S. Alex Rottgers, Cory M. Resnick, Jeffrey Goldstein, Zarmina Ehsan, Donna Watkins, Nicole Deptula, Kuan-Chi Lai, Janet Lioy, Semsa Gogcu, Christopher M. Cielo
Summary: This study describes the spectrum of disease and burden of care in infants with congenital micrognathia. The results show that these infants commonly require surgical intervention and tube feedings, and disparities based on race and among centers were identified.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Michael P. Fundora, Manvitha Kalicheti, Guantao Zhao, Kevin O. Maher, Nicoleta Serban
Summary: This study investigated the variation of outpatient opioid prescribing in postoperative pediatric cardiac patients across the US. The results showed that there were significant differences in opioid prescribing by race, ethnicity, sex, and region.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Jia Guo, Brooklyn J. Fraser, Leigh Blizzard, Michael D. Schmidt, Terence Dwyer, Alison J. Venn, Costan G. Magnussen
Summary: There is a correlation between childhood and adulthood cardiorespiratory fitness.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Nianzhou Xiao, Michelle Starr, Adrienne Stolfi, Gilad Hamdani, Shireen Hashmat, Stefan G. Kiessling, Christina Sethna, Mahmoud Kallash, Robyn Matloff, Robert Woroniecki, Keia Sanderson, Ikuyo Yamaguchi, Stephen D. Cha, Michael G. Semanik, Rahul Chanchlani, Joseph T. Flynn, Mark Mitsnefes
Summary: This multicenter study reports that most infants diagnosed with idiopathic hypertension in the NICU will discontinue antihypertensive treatment within 2 years of discharge. Antenatal steroid treatment is associated with a decreased likelihood of needing antihypertensive therapy for more than 1 year.
JOURNAL OF PEDIATRICS
(2024)
Editorial Material
Pediatrics
Kanwaljit Singh, John Concato, Jonathan M. Davis
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Yaxing Meng, Harri Niinikoski, Suvi P. Rovio, Brooklyn J. Fraser, Feitong Wu, Antti Jula, Tapani Ronnemaa, Jorma S. A. Viikari, Olli T. Raitakari, Katja Pahkala, Costan G. Magnussen
Summary: This 26-year study shows a correlation between early-life non-HDL-C levels and future levels. Early dietary counseling can reduce the risk of high pediatric non-HDL-C, emphasizing the importance of early interventions in preventing cardiovascular risks.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Kelsey A. B. Gastineau, Rebecca Bell, Allison Hanes, Sandra Mckay, Eric Sigel, Filoteia Popescu, Evan C. Sommer, Shari Barkin
Summary: This study aimed to assess the self-reported counseling outcomes for a firearm safe storage counseling training program provided by the American Academy of Pediatrics. The results demonstrated significant improvement in counseling self-efficacy and frequency one month after the training.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Kathryn E. K. Berlin, William Scott, Sara Dawson, David Brousseau, Joanne M. Lagatta
Summary: This prospective cohort study aimed to investigate the impact of bronchopulmonary dysplasia (BPD) on the health-related quality of life (HRQL) of infants from NICU hospitalization to one year post-discharge. The study found that lower HRQL during NICU stay was associated with earlier gestational age, postnatal corticosteroid usage, outborn status, and gastrostomy tube placement. Lower HRQL at 3 and 12 months post-discharge was associated with readmissions, home oxygen use, parent-reported difficulty breathing, lower developmental scores, and not playing with other children. Most parents reported similar or improved HRQL after discharge, but parents of infants with respiratory symptoms experienced less improvement. Efforts to improve parent HRQL should focus on respiratory symptoms and social isolation.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Garett J. Griffith, Alan P. Wang, Robert I. Liem, Michael R. Carr, Tyler Corson, Kendra Ward
Summary: This study developed reference values for cardiorespiratory fitness in children aged 6-18 years without underlying heart disease, measured by peak oxygen uptake and treadmill time. Fitness levels increased with age in males but not females. Males generally exhibited higher fitness levels compared to females in the same age groups.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
David S. Liu, Patricia Miller, Anna Rothenberg, Carley Vuillermin, Peter M. Waters, Andrea S. Bauer
Summary: This study aims to determine if children with elbow flexion contracture (EFC) caused by brachial plexus birth injury (BPBI) are more likely to develop shoulder contracture and undergo surgical treatment. A retrospective review was conducted on children under 2 years old with BPBI who presented to a single children's hospital. The results showed that patients with EFC had reduced shoulder range of motion and higher odds of shoulder contracture and surgical treatment. Prompt referral to a BPBI specialty clinic is recommended for evaluation and potential surgery.
JOURNAL OF PEDIATRICS
(2024)