Medical Specialties Commons^™

Narrative Review Of Single Ventricle: Where Are We After 40 Years?, Antonio F Corno, Tina O Findley, Jorge D Salazar

Faculty, Staff and Student Publications

BACKGROUND AND OBJECTIVE: Key medical and surgical advances have been made in the longitudinal management of patients with "functionally" single ventricle physiology, with the principles of Fontan circulation applied to other complex congenital heart defects. The purpose of this article is to review all of the innovations, starting from fetal life, that led to a change of strategy for single ventricle.

METHODS: Our literature review included all full articles published in English language on the Cochrane, MedLine, and Embase with references to "single ventricle" and "univentricular hearts", including the initial history of the treatments for this congenital heart defects as …

Sars-Cov-2 Screening Testing Programs For Safe In-Person Learning In K-12 Schools., Ibukunoluwa C. Kalu, Kanecia O. Zimmerman, Jennifer Goldman, Dana Keener Mast, Ashley M. Blakemore, Ganga Moorthy, Angelique E. Boutzoukas, Melissa M. Campbell, Diya Uthappa, Jesse Delarosa, Jessica M. Potts, Laura J. Edwards, Rangaraj Selvarangan, Daniel K. Benjamin, Tara K. Mann, Jennifer E. Schuster

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) screening testing is a recommended mitigation strategy for schools, although few descriptions of program implementation are available.

METHODS: Kindergarten through 12th grade (K-12) students and staff practicing universal masking during the delta and omicron variant waves from five schools in Durham, North Carolina and eight schools in Kansas City, Missouri participated; Durham's program was structured as a public health initiative facilitated by school staff, and Kansas City's as a research study facilitated by a research team. Tests included school-based rapid antigen or polymerase chain reaction testing, at-home rapid antigen testing, and off-site …

Impact Of Penicillin Allergy Labels On Children Treated For Outpatient Respiratory Infections, Torsten Joerger, Margaret G Taylor, Yun Li, Debra L Palazzi, Jeffrey S Gerber

Faculty, Staff and Students Publications

BACKGROUND: Penicillin allergy is the most common antibiotic allergy, yet most children labeled as allergic tolerate penicillin. The impact of inaccurate penicillin allergy labels (PALs) on pediatric outpatients is unknown. The objective of this study was to compare outcomes between children with and without a PAL after treatment for outpatient respiratory tract infections (RTI).

METHODS: A retrospective, longitudinal birth cohort study was performed in children who received care in 90 pediatric primary care practices in Philadelphia and Houston metropolitan areas. Prescribing and clinical outcomes of children with a PAL at the time of an RTI were compared to non-allergic children, …

Developing Consensus On Clinical Outcomes For Children With Mild Pneumonia: A Delphi Study, Todd A Florin, Joy Melnikow, Melissa Gosdin, Ryan Ciuffetelli, Jillian Benedetti, Dustin Ballard, Marianne Gausche-Hill, Matthew P Kronman, Lisa A Martin, Rakesh D Mistry, Mark I Neuman, Debra L Palazzi, Sameer J Patel, Wesley H Self, Samir S Shah, Sonal N Shah, Susan Sirota, Andrea T Cruz, Richard Ruddy, Jeffrey S Gerber, Nathan Kuppermann

Faculty, Staff and Students Publications

BACKGROUND: The absence of consensus for outcomes in pediatric antibiotic trials is a major barrier to research harmonization and clinical translation. We sought to develop expert consensus on study outcomes for clinical trials of children with mild community-acquired pneumonia (CAP).

METHODS: Applying the Delphi method, a multispecialty expert panel ranked the importance of various components of clinical response and treatment failure outcomes in children with mild CAP for use in research. During Round 1, panelists suggested additional outcomes in open-ended responses that were added to subsequent rounds of consensus building. For Rounds 2 and 3, panelists were provided their own …

Heart Rate Variability (Hrv) Loss And Other Ekg Changes Prior To A Cardiopulmonary Event In Children Admitted To The Icu At A Tertiary Care Children’S Hospital, Sabrina R. Orta, Shreya Chandran, Utpal Bhalala

MEDI 9331 Scholarly Activities Clinical Years

Introduction: HRV and EKG changes prior to cardiopulmonary events (CPEs) occurring in children in intensive care unit (ICU) settings is not well documented. We assess if substantial losses of HRV and/or other EKG changes, if any, may be detectable prior to a CPE occurring in children admitted to the ICU.

Methods: A prospective observational cohort study was conducted in the ICU from January to February of 2023 at Driscoll Children’s Hospital. A “CPE” was defined as a change in the clinical status of a child warranting a cardiopulmonary intervention. Demographic and clinical data from each patient was collected, …

Recent Advances In Psychopharmacology: From Bench To Bedside Novel Trends In Schizophrenia, Asim A Shah, Syed Z Iqbal

Faculty, Staff and Students Publications

Research in the field of psychopharmacology is ongoing to develop novel compounds which can revolutionize the treatment of psychiatric disorders. The concept of bench-to-bedside is a tedious process, transforming the initial research performed in the laboratories into novel treatment options. Schizophrenia (SCZ) is a chronic psychiatric illness with significant morbidity and mortality. SCZ not only presents with psychotic symptoms including hallucinations and delusions but also with negative and cognitive symptoms. The negative symptoms include the diminished ability to express emotions, loss of pleasure, and motivation with minimal social interactions. Conventional antipsychotics primarily target positive symptoms with minimal therapeutic benefits for …

Asprosin Promotes Feeding Through Sk Channel-Dependent Activation Of Agrp Neurons, Bing Feng, Hesong Liu, Ila Mishra, Clemens Duerrschmid, Peiyu Gao, Pingwen Xu, Chunmei Wang, Yanlin He

Faculty, Staff and Students Publications

Asprosin, a recently identified adipokine, activates agouti-related peptide (AgRP) neurons in the arcuate nucleus of the hypothalamus (ARH) via binding to protein tyrosine phosphatase receptor δ (Ptprd) to increase food intake. However, the intracellular mechanisms responsible for asprosin/Ptprd-mediated activation of AgRPARH neurons remain unknown. Here, we demonstrate that the small-conductance calcium-activated potassium (SK) channel is required for the stimulatory effects of asprosin/Ptprd on AgRPARH neurons. Specifically, we found that deficiency or elevation of circulating asprosin increased or decreased the SK current in AgRPARH neurons, respectively. AgRPARH-specific deletion of SK3 (an SK channel subtype highly expressed in AgRPARH neurons) blocked asprosin-induced …

Clinical Practice Guideline Recommendation Summaries For Pediatric Oncology Health Care Professionals: A Qualitative Study, Nancy Santesso, Melissa Beauchemin, Paula D. Robinson, Alexandra M. Walsh, Aaron J. Sugalski, Tammy Lo, Ha Dang, Brian T. Fisher, Allison C. Grimes, Andrea Rothfus Wrightson, Lolie C. Yu, Lillian Sung, L. Lee Dupuis

School of Medicine Faculty Publications

Objective To develop a summary format of clinical practice guideline (CPG) recommendations to improve understandability among health care professionals. Methods We developed a summary format based on current research and used the "Think Aloud"technique in one-on-one cognitive interviews to iteratively improve it. Interviews of health care professionals from Children's Oncology Group-member, National Cancer Institute Community Oncology Research Program sites were conducted. After every five interviews (a round), responses were reviewed, and changes made to the format until it was well understood and no new, substantive suggestions for revision were raised. We took a directed (deductive) approach to content analysis of …

The Presence Of A Single Nuchal Cord In The Third Trimester May Not Affect Tei Index In Lga Fetuses, Julia Murlewska, Przemysław Poszwa, Oskar Sylwestrzak, Maria Respondek-Liberska, Dennis Wood

Department of Obstetrics and Gynecology Faculty Papers

(1) Background: The aim of this study was to assess the RV (right ventricle) and LV (left ventricle) Tei index in large for gestational age (LGA) fetuses with a single 360-degree umbilical coil of the umbilical cord around the fetal neck identified by ultrasound in the third trimester of gestation. (2) Methods: The RV and LV Tei index for the cardiac function were measured in 297 singleton pregnancies, and we identified 25 LGA fetuses. There were 48% of LGA fetuses with a nuchal umbilical cord—LGA/NC—larger for gestational age fetuses with a nuchal cord. NC was detected with a color Doppler …

Assessment Of Nutrition Care Needs In The Management Of Pediatric Patients With Rare Disease, Elizabeth Turner, Kayla Woodring, Marianne Becnel, Saisha Kataria, Esther Nuebel

Annual Research Symposium

2023 Roseman University Research Symposium: Poster Session

The Impact Of A Hospital Protocol In Neonates At Risk For Neonatal Abstinence Syndrome (Nas), Victoria Pang

Annual Research Symposium

No abstract provided.

Repurposing Atovaquone As A Therapeutic Against Acute Myeloid Leukemia (Aml): Combination With Conventional Chemotherapy Is Feasible And Well Tolerated, Alexandra Mclean Stevens, Eric S Schafer, Minhua Li, Maci Terrell, Raushan Rashid, Hana Paek, Melanie B Bernhardt, Allison Weisnicht, Wesley T Smith, Noah J Keogh, Michelle C Alozie, Hailey H Oviedo, Alan K Gonzalez, Tamilini Ilangovan, Alicia Mangubat-Medina, Haopei Wang, Eunji Jo, Cara A Rabik, Claire Bocchini, Susan Hilsenbeck, Zachary T Ball, Todd M Cooper, Michele S Redell

Center for Medical Ethics and Health Policy Staff Publications

Survival of pediatric AML remains poor despite maximized myelosuppressive therapy. The pneumocystis jiroveci pneumonia (PJP)-treating medication atovaquone (AQ) suppresses oxidative phosphorylation (OXPHOS) and reduces AML burden in patient-derived xenograft (PDX) mouse models, making it an ideal concomitant AML therapy. Poor palatability and limited product formulations have historically limited routine use of AQ in pediatric AML patients. Patients with de novo AML were enrolled at two hospitals. Daily AQ at established PJP dosing was combined with standard AML therapy, based on the Medical Research Council backbone. AQ compliance, adverse events (AEs), ease of administration score (scale: 1 (very difficult)-5 (very easy)) …

Disseminated Juvenile Xanthogranuloma With A Novel Myh9-Flt3 Fusion Presenting As A Blueberry Muffin Rash In A Neonate., Emily E. Clark, Mollie Walton, Lionel M L Chow, J Todd Boyd, M David Yohannan, Shreyas Arya

Manuscripts, Articles, Book Chapters and Other Papers

Juvenile xanthogranuloma (JXG) is a benign proliferative histiocytic disorder of the dendritic cell phenotype. It mostly presents in the pediatric age group as a solitary skin lesion. We describe a rare case of an infant born with disseminated JXG who presented with a blueberry muffin rash at birth. A term infant was noted to have multiple petechiae, purple nodules, and macules (1 mm-2 cm in diameter) and hepatosplenomegaly, at the time of birth. Further investigations revealed thrombocytopenia and direct hyperbilirubinemia and a magnetic resonance imaging showed scattered tiny foci of restricted diffusion in multiple areas of the brain. Patient received …

Factors Associated With Response To Growth Hormone In Pediatric Growth Disorders: Results Of A 5-Year Registry Analysis, Judith L. Ross, Moshe Fridman, Nicky Kelepouris, Kristine Murray, Nils Krone, Michel Polak, Tilman R Rohrer, Alberto Pietropoli, Neil Lawrence, Philippe Backeljauw

Department of Pediatrics Faculty Papers

Context: Growth hormone (GH) therapy can increase linear growth in patients with growth hormone deficiency (GHD), Turner syndrome (TS), Noonan syndrome (NS), and Prader-Willi syndrome (PWS), although outcomes vary by disease state.

Objective: To assess growth and identify factors associated with growth response with long-term GH therapy.

Methods: Data from pediatric patients with GHD, TS, NS, and PWS obtained at GH treatment initiation (baseline) and annually for 5 years in the ANSWER Program and NordiNet® IOS were analyzed retrospectively. Height standard deviation score (HSDS) was assessed over time, and multivariate analyses determined variables with significant positive effects on growth outcomes …

Evaluation Of Bnt162b2 Covid-19 Vaccine In Children Younger Than 5 Years Of Age, Flor M Muñoz, Lawrence D Sher, Charu Sabharwal, Alejandra Gurtman, Xia Xu, Nicholas Kitchin, Stephen Lockhart, Robert Riesenberg, Joanna M Sexter, Hanna Czajka, Grant C Paulsen, Yvonne Maldonado, Emmanuel B Walter, Kawsar R Talaat, Janet A Englund, Uzma N Sarwar, Caitlin Hansen, Martha Iwamoto, Chris Webber, Luke Cunliffe, Benita Ukkonen, Silvina N Martínez, Barbara A Pahud, Iona Munjal, Joseph B Domachowske, Kena A Swanson, Hua Ma, Kenneth Koury, Susan Mather, Claire Lu, Jing Zou, Xuping Xie, Pei-Yong Shi, David Cooper, Özlem Türeci, Uğur Şahin, Kathrin U Jansen, William C Gruber, C4591007 Clinical Trial Group

Faculty, Staff and Students Publications

BACKGROUND: Safe and effective vaccines against coronavirus disease 2019 (Covid-19) are urgently needed in young children.

METHODS: We conducted a phase 1 dose-finding study and are conducting an ongoing phase 2-3 safety, immunogenicity, and efficacy trial of the BNT162b2 vaccine in healthy children 6 months to 11 years of age. We present results for children 6 months to less than 2 years of age and those 2 to 4 years of age through the data-cutoff dates (April 29, 2022, for safety and immunogenicity and June 17, 2022, for efficacy). In the phase 2-3 trial, participants were randomly assigned (in a …

Evaluation Of Bnt162b2 Covid-19 Vaccine In Children Younger Than 5 Years Of Age, Flor M Muñoz, Lawrence D Sher, Charu Sabharwal, Alejandra Gurtman, Xia Xu, Nicholas Kitchin, Stephen Lockhart, Robert Riesenberg, Joanna M Sexter, Hanna Czajka, Grant C Paulsen, Yvonne Maldonado, Emmanuel B Walter, Kawsar R Talaat, Janet A Englund, Uzma N Sarwar, Caitlin Hansen, Martha Iwamoto, Chris Webber, Luke Cunliffe, Benita Ukkonen, Silvina N Martínez, Barbara A Pahud, Iona Munjal, Joseph B Domachowske, Kena A Swanson, Hua Ma, Kenneth Koury, Susan Mather, Claire Lu, Jing Zou, Xuping Xie, Pei-Yong Shi, David Cooper, Özlem Türeci, Uğur Şahin, Kathrin U Jansen, William C Gruber

Faculty, Staff and Students Publications

BACKGROUND: Safe and effective vaccines against coronavirus disease 2019 (Covid-19) are urgently needed in young children.

METHODS: We conducted a phase 1 dose-finding study and are conducting an ongoing phase 2-3 safety, immunogenicity, and efficacy trial of the BNT162b2 vaccine in healthy children 6 months to 11 years of age. We present results for children 6 months to less than 2 years of age and those 2 to 4 years of age through the data-cutoff dates (April 29, 2022, for safety and immunogenicity and June 17, 2022, for efficacy). In the phase 2-3 trial, participants were randomly assigned (in a …

Decreasing Mutant Atxn1 Nuclear Localization Improves A Spectrum Of Sca1-Like Phenotypes And Brain Region Transcriptomic Profiles, Hillary P Handler, Lisa Duvick, Jason S Mitchell, Marija Cvetanovic, Molly Reighard, Alyssa Soles, Kathleen B Mather, Orion Rainwater, Shannah Serres, Tessa Nichols-Meade, Stephanie L Coffin, Yun You, Brian L Ruis, Brennon O'Callaghan, Christine Henzler, Huda Y Zoghbi, Harry T Orr

Duncan NRI Faculty and Staff Publications

Spinocerebellar ataxia type 1 (SCA1) is a dominant trinucleotide repeat neurodegenerative disease characterized by motor dysfunction, cognitive impairment, and premature death. Degeneration of cerebellar Purkinje cells is a frequent and prominent pathological feature of SCA1. We previously showed that transport of ATXN1 to Purkinje cell nuclei is required for pathology, where mutant ATXN1 alters transcription. To examine the role of ATXN1 nuclear localization broadly in SCA1-like disease pathogenesis, CRISPR-Cas9 was used to develop a mouse with an amino acid alteration (K772T) in the nuclear localization sequence of the expanded ATXN1 protein. Characterization of these mice indicates that proper nuclear localization …

Disruption Of The Atxn1-Cic Complex Reveals The Role Of Additional Nuclear Atxn1 Interactors In Spinocerebellar Ataxia Type 1, Stephanie L Coffin, Mark A Durham, Larissa Nitschke, Eder Xhako, Amanda M Brown, Jean-Pierre Revelli, Esmeralda Villavicencio Gonzalez, Tao Lin, Hillary P Handler, Yanwan Dai, Alexander J Trostle, Ying-Wooi Wan, Zhandong Liu, Roy V Sillitoe, Harry T Orr, Huda Y Zoghbi

Faculty, Staff and Students Publications

Spinocerebellar ataxia type 1 (SCA1) is a paradigmatic neurodegenerative disease in that it is caused by a mutation in a broadly expressed protein, ATXN1; however, only select populations of cells degenerate. The interaction of polyglutamine-expanded ATXN1 with the transcriptional repressor CIC drives cerebellar Purkinje cell pathogenesis; however, the importance of this interaction in other vulnerable cells remains unknown. Here, we mutated the 154Q knockin allele of Atxn1154Q/2Q mice to prevent the ATXN1-CIC interaction globally. This normalized genome-wide CIC binding; however, it only partially corrected transcriptional and behavioral phenotypes, suggesting the involvement of additional factors in disease pathogenesis. Using unbiased …

Rare Case Of Nasal Vault Oncocytic Cystadenoma, Aarti Agarwal, Kathleen Mcclain, Karen Banker, Kudakwashe Chikwava, Udayan K. Shah

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

Background: Oncocytic Cystadenomas are a rare benign pathology often found to arise from the salivary glands, reported more commonly in minor salivary glands, but even more rarely in major salivary glands and the larynx. This is the first known report of a nasal vault oncocytic cystadenoma in a pediatric patient.

Methods: Case Report and Literature Review.

Case presentation: A 10-year-old female presented with a mass involving the left nasal vestibule that caused nasal obstruction and a visible external abnormality. MRI imaging revealed a cystic lesion in the anterior nasal cavity that was rim enhancing with a bright T2 signal that …

Response Assessment In Pediatric Craniopharyngioma: Recommendations From The Response Assessment In Pediatric Neuro-Oncology (Rapno) Working Group, Lindsey M Hoffman, Camilo Jaimes, Kshitij Mankad, David M Mirsky, Benita Tamrazi, Christopher L Tinkle, Cassie Kline, Aparna Ramasubramanian, Fatema Malbari, Ross Mangum, Holly Lindsay, Vincent Horne, David J Daniels, Sameer Keole, David R Grosshans, Tina Young Poussaint, Roger Packer, Sergio Cavalheiro, Brigitte Bison, Todd C Hankinson, Hermann L Müller, Ute Bartels, Katherine E Warren, Murali Chintagumpala

Faculty, Staff and Student Publications

BACKGROUND: Craniopharyngioma is a histologically benign tumor of the suprasellar region for which survival is excellent but quality of life is often poor secondary to functional deficits from tumor and treatment. Standard therapy consists of maximal safe resection with or without radiation therapy. Few prospective trials have been performed, and response assessment has not been standardized.

METHODS: The Response Assessment in Pediatric Neuro-Oncology (RAPNO) committee devised consensus guidelines to assess craniopharyngioma response prospectively.

RESULTS: Magnetic resonance imaging is the recommended radiologic modality for baseline and follow-up assessments. Radiologic response is defined by 2-dimensional measurements of both solid and cystic tumor …

N-Of-1 Trials Vs Usual Care In Children With Hypertension: A Pilot Randomized Clinical Trial, Joyce P Samuel, Cynthia S Bell, Joshua A Samuels, Celin Rajan, Adrienne K Walton, Charles Green, Jon E Tyson

Faculty, Staff and Student Publications

BACKGROUND: Blood pressure (BP) is often inadequately controlled in children treated for hypertension, and personalized (n-of-1) trials show promise for tailoring treatment choices. We assessed whether patients whose treatment choices are informed by an n-of-1 trial have improved BP control compared to usual care.

METHODS: A randomized clinical trial was conducted in a pediatric hypertension clinic in Houston from April 2018 to September 2020. Hypertensive adolescents and young adults 10-22 years old were randomized 1:1 to a strategy of n-of-1 trial using ambulatory BP monitoring to inform treatment choice or usual care, with treatment selected by physician preference. The primary …

Early Antibiotics And Risk For Necrotizing Enterocolitis In Premature Infants: A Narrative Review., Alain Cuna, Michael J. Morowitz, Venkatesh Sampath

Manuscripts, Articles, Book Chapters and Other Papers

While prompt initiation of antibiotics at birth due to concerns for early onset sepsis is common, it often leads to many preterm infants being exposed to treatment despite negative blood cultures. Such exposure to early antibiotics can impact the developing gut microbiome putting infants at increased risk of several diseases. Necrotizing enterocolitis (NEC), a devastating inflammatory bowel disease that affects preterm infants, is among the most widely studied neonatal disease that has been linked to early antibiotics. While some studies have demonstrated an increased risk of NEC, other studies have demonstrated seemingly contrary findings of decreased NEC with early antibiotics. …

Emerging Therapeutic Strategies For Diffuse Intrinsic Pontine Glioma: A Systematic Review, Shahrukh Farrukh, Shagufta Habib, Amna Rafaqat, Zouina Sarfraz, Azza Sarfraz, Muzna Sarfraz, Karla Robles-Velasco, Miguel Felix, Ivan Cherrez-Ojeda

Department of Paediatrics and Child Health

Background: Of all central nervous systems tumors, 10-20% are located in the brainstem; diffuse intrinsic pontine glioma (DIPG) is diagnosed in 80% of them. With over five decades of clinical trial testing, there are no established therapeutic options for DIPG. This research article aims to collate recent clinical trial data and provide a landscape for the most promising therapies that have emerged in the past five years.
Methods: PubMed/MEDLINE, Web of Science, Scopus, and Cochrane were systematically searched using the following keywords: Diffuse intrinsic pontine glioma, Pontine, Glioma, Treatment, Therapy, Therapeutics, curative, and/or Management. Both adult and pediatric patients with …

Micrornas And Gene Regulatory Networks Related To Cleft Lip And Palate, Chihiro Iwaya, Akiko Suzuki, Junichi Iwata

Faculty, Staff and Student Publications

Cleft lip and palate is one of the most common congenital birth defects and has a complex etiology. Either genetic or environmental factors, or both, are involved at various degrees, and the type and severity of clefts vary. One of the longstanding questions is how environmental factors lead to craniofacial developmental anomalies. Recent studies highlight non-coding RNAs as potential epigenetic regulators in cleft lip and palate. In this review, we will discuss microRNAs, a type of small non-coding RNAs that can simultaneously regulate expression of many downstream target genes, as a causative mechanism of cleft lip and palate in humans …

Tobacco Exposure In Adults And Children With Proteinuric Glomerulopathies: A Neptune Cohort Study., Linda Wang, Bayle Smith-Salzberg, Kevin Ec Meyers, Dorey A. Glenn, Katherine R. Tuttle, Vimal K. Derebail, Tammy M. Brady, Keisha Gibson, Abigail R. Smith, Michelle M. O'Shaughnessy, Tarak Srivastava, Gentzon Hall, Jarcy Zee, Markus Bitzer, Christine B. Sethna

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Tobacco exposure has been recognized as a risk factor for cardiovascular disease (CVD) and progression of kidney disease. Patients with proteinuric glomerulopathies are at increased risk for cardiovascular morbidity and mortality. Multiple studies have linked tobacco exposure to CVD and chronic kidney disease, but the relationships between smoking and proteinuric glomerulopathies in adults and children have not been previously explored.

METHODS: Data from the Nephrotic Syndrome Study Network (NEPTUNE), a multi-center prospective observational study of participants with proteinuric glomerulopathies, was analyzed. 371 adults and 192 children enrolled in NEPTUNE were included in the analysis. Self-reported tobacco exposure was classified …

Author Correction: Common Variants In Alzheimer’S Disease And Risk Stratification By Polygenic Risk Scores, Itziar De Rojas, Sonia Moreno-Grau, Niccolo Tesi, Benjamin Grenier-Boley, Victor Andrade, Iris E Jansen, Nancy L Pedersen, Najada Stringa, Anna Zettergren, Isabel Hernández, Laura Montrreal, Carmen Antúnez, Anna Antonell, Rick M Tankard, Joshua C Bis, Rebecca Sims, Céline Bellenguez, Inés Quintela, Antonio González-Perez, Miguel Calero, Emilio Franco-Macías, Juan Macías, Rafael Blesa, Laura Cervera-Carles, Manuel Menéndez-González, Ana Frank-García, Jose Luís Royo, Fermin Moreno, Raquel Huerto Vilas, Miquel Baquero, Mónica Diez-Fairen, Carmen Lage, Sebastián García-Madrona, Pablo García-González, Emilio Alarcón-Martín, Sergi Valero, Oscar Sotolongo-Grau, Abbe Ullgren, Adam C Naj, Afina W Lemstra, Alba Benaque, Alba Pérez-Cordón, Alberto Benussi, Alberto Rábano, Alessandro Padovani, Alessio Squassina, Alexandre De Mendonça, Alfonso Arias Pastor, Almar A L Kok, Alun Meggy, Ana Belén Pastor, Ana Espinosa, Anaïs Corma-Gómez, Angel Martín Montes, Ángela Sanabria, Anita L Destefano, Anja Schneider, Annakaisa Haapasalo, Anne Kinhult Ståhlbom, Anne Tybjærg-Hansen, Annette M Hartmann, Annika Spottke, Arturo Corbatón-Anchuelo, Arvid Rongve, Barbara Borroni, Beatrice Arosio, Benedetta Nacmias, Børge G Nordestgaard, Brian W Kunkle, Camille Charbonnier, Carla Abdelnour, Carlo Masullo, Carmen Martínez Rodríguez, Carmen Muñoz-Fernandez, Carole Dufouil, Caroline Graff, Catarina B Ferreira, Caterina Chillotti, Chandra A Reynolds, Chiara Fenoglio, Christine Van Broeckhoven, Christopher Clark, Claudia Pisanu, Claudia L Satizabal, Clive Holmes, Dolores Buiza-Rueda, Dag Aarsland, Dan Rujescu, Daniel Alcolea, Daniela Galimberti, David Wallon, Davide Seripa, Edna Grünblatt, Efthimios Dardiotis, Emrah Düzel, Elio Scarpini, Elisa Conti, Elisa Rubino, Ellen Gelpi, Eloy Rodriguez-Rodriguez, Emmanuelle Duron, Eric Boerwinkle, Evelyn Ferri, Fabrizio Tagliavini, Fahri Küçükali, Florence Pasquier, Florentino Sanchez-Garcia, Francesca Mangialasche, Frank Jessen, Gaël Nicolas, Geir Selbæk, Gemma Ortega, Geneviève Chêne, Georgios Hadjigeorgiou, Giacomina Rossi, Gianfranco Spalletta, Giorgio Giaccone, Giulia Grande, Giuliano Binetti, Goran Papenberg, Harald Hampel, Henri Bailly, Henrik Zetterberg, Hilkka Soininen, Ida K Karlsson, Ignacio Alvarez, Ildebrando Appollonio, Ina Giegling, Ingmar Skoog, Ingvild Saltvedt, Innocenzo Rainero, Irene Rosas Allende, Jakub Hort, Janine Diehl-Schmid, Jasper Van Dongen, Jean-Sebastien Vidal, Jenni Lehtisalo, Jens Wiltfang, Jesper Qvist Thomassen, Johannes Kornhuber, Jonathan L Haines, Jonathan Vogelgsang, Juan A Pineda, Juan Fortea, Julius Popp, Jürgen Deckert, Katharina Buerger, Kevin Morgan, Klaus Fließbach, Kristel Sleegers, Laura Molina-Porcel, Lena Kilander, Leonie Weinhold, Lindsay A Farrer, Li-San Wang, Luca Kleineidam, Lucia Farotti, Lucilla Parnetti, Lucio Tremolizzo, Lucrezia Hausner, Luisa Benussi, Lutz Froelich, M Arfan Ikram, M Candida Deniz-Naranjo, Magda Tsolaki, Maitée Rosende-Roca, Malin Löwenmark, Marc Hulsman, Marco Spallazzi, Margaret A Pericak-Vance, Margaret Esiri, María Bernal Sánchez-Arjona, Maria Carolina Dalmasso, María Teresa Martínez-Larrad, Marina Arcaro, Markus M Nöthen, Marta Fernández-Fuertes, Martin Dichgans, Martin Ingelsson, Martin J Herrmann, Martin Scherer, Martin Vyhnalek, Mary H Kosmidis, Mary Yannakoulia, Matthias Schmid, Michael Ewers, Michael T Heneka, Michael Wagner, Michela Scamosci, Miia Kivipelto, Mikko Hiltunen, Miren Zulaica, Montserrat Alegret, Myriam Fornage, Natalia Roberto, Natasja M Van Schoor, Nazib M Seidu, Nerisa Banaj, Nicola J Armstrong, Nikolaos Scarmeas, Norbert Scherbaum, Oliver Goldhardt, Oliver Hanon, Oliver Peters, Olivia Anna Skrobot, Olivier Quenez, Ondrej Lerch, Paola Bossù, Paolo Caffarra, Paolo Dionigi Rossi, Paraskevi Sakka, Patrizia Mecocci, Per Hoffmann, Peter A Holmans, Peter Fischer, Peter Riederer, Qiong Yang, Rachel Marshall, Rajesh N Kalaria, Richard Mayeux, Rik Vandenberghe, Roberta Cecchetti, Roberta Ghidoni, Ruth Frikke-Schmidt, Sandro Sorbi, Sara Hägg, Sebastiaan Engelborghs, Seppo Helisalmi, Sigrid Botne Sando, Silke Kern, Silvana Archetti, Silvia Boschi, Silvia Fostinelli, Silvia Gil, Silvia Mendoza, Simon Mead, Simona Ciccone, Srdjan Djurovic, Stefanie Heilmann-Heimbach, Steffi Riedel-Heller, Teemu Kuulasmaa, Teodoro Del Ser, Thibaud Lebouvier, Thomas Polak, Tiia Ngandu, Timo Grimmer, Valentina Bessi, Valentina Escott-Price, Vilmantas Giedraitis, Vincent Deramecourt, Wolfgang Maier, Xueqiu Jian, Yolande A L Pijnenburg, Eadb Contributors, Gr@Ace Study Group, Degesco Consortium, Igap (Adgc, Charge, Eadi, Gerad), Pgc-Alz Consortia, Patrick Gavin Kehoe, Guillermo Garcia-Ribas, Pascual Sánchez-Juan, Pau Pastor, Jordi Pérez-Tur, Gerard Piñol-Ripoll, Adolfo Lopez De Munain, Jose María García-Alberca, María J Bullido, Victoria Álvarez, Alberto Lleó, Luis M Real, Pablo Mir, Miguel Medina, Philip Scheltens, Henne Holstege, Marta Marquié, María Eugenia Sáez, Ángel Carracedo, Philippe Amouyel, Gerard D Schellenberg, Julie Williams, Sudha Seshadri, Cornelia M Van Duijn, Karen A Mather, Raquel Sánchez-Valle, Manuel Serrano-Ríos, Adelina Orellana, Lluís Tárraga, Kaj Blennow, Martijn Huisman, Ole A Andreassen, Danielle Posthuma, Jordi Clarimón, Mercè Boada, Wiesje M Van Der Flier, Alfredo Ramirez, Jean-Charles Lambert, Sven J Van Der Lee, Agustín Ruiz

Faculty, Staff and Students Publications

This corrects the article "Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores" in volume 12, 3417.

The Clinical And Genetic Spectrum Of Autosomal-Recessive Tor1a-Related Disorders, Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Shahnaz Ibrahim

Department of Paediatrics and Child Health

In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated to torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with TOR1A-AMC5 have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has …

Bnt162b2 Mrna Vaccination Against Coronavirus Disease 2019 Is Associated With A Decreased Likelihood Of Multisystem Inflammatory Syndrome In Children Aged 5-18 Years-United States, July 2021 - April 2022., Laura D. Zambrano, Margaret M. Newhams, Samantha M. Olson, Natasha B. Halasa, Ashley M. Price, Amber O. Orzel, Cameron C. Young, Julie A. Boom, Leila C. Sahni, Aline B. Maddux, Katherine E. Bline, Satoshi Kamidani, Keiko M. Tarquinio, Kathleen Chiotos, Jennifer E. Schuster, Melissa L. Cullimore, Sabrina M. Heidemann, Charlotte V. Hobbs, Ryan A. Nofziger, Pia S. Pannaraj, Melissa A. Cameron, Tracie C. Walker, Stephanie P. Schwartz, Kelly N. Michelson, Bria M. Coates, Heidi R. Flori, Elizabeth H. Mack, Laura Smallcomb, Shira J. Gertz, Samina S. Bhumbra, Tamara T. Bradford, Emily R. Levy, Michele Kong, Katherine Irby, Natalie Z. Cvijanovich, Matt S. Zinter, Cindy Bowens, Hillary Crandall, Janet R. Hume, Manish M. Patel, Angela P. Campbell, Adrienne G. Randolph, Overcoming Covid-19 Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Multisystem inflammatory syndrome in children (MIS-C), linked to antecedent severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, is associated with considerable morbidity. Prevention of SARS-CoV-2 infection or coronavirus disease 2019 (COVID-19) by vaccination might also decrease MIS-C likelihood.

METHODS: In a multicenter, case-control, public health investigation of children ages 5-18 years hospitalized from 1 July 2021 to 7 April 2022, we compared the odds of being fully vaccinated (2 doses of BNT162b2 vaccine ≥28 days before hospital admission) between MIS-C case-patients and hospital-based controls who tested negative for SARS-CoV-2. These associations were examined by age group, timing of vaccination, …

Life-Threatening Complications Of Influenza Vs Coronavirus Disease 2019 (Covid-19) In Us Children, Natasha B Halasa, Andrew J Spieker, Cameron C Young, Samantha M Olson, Margaret M Newhams, Justin Z Amarin, Kristin L Moffitt, Mari M Nakamura, Emily R Levy, Vijaya L Soma, Rana Talj, Scott L Weiss, Julie C Fitzgerald, Elizabeth H Mack, Aline B Maddux, Jennifer E Schuster, Bria M Coates, Mark W Hall, Stephanie P Schwartz, Adam J Schwarz, Michele Kong, Philip C Spinella, Laura L Loftis, Gwenn E Mclaughlin, Charlotte V Hobbs, Courtney M Rowan, Melania M Bembea, Ryan A Nofziger, Christopher J Babbitt, Cindy Bowens, Heidi R Flori, Shira J Gertz, Matt S Zinter, John S Giuliano, Janet R Hume, Natalie Z Cvijanovich, Aalok R Singh, Hillary A Crandall, Neal J Thomas, Melissa L Cullimore, Manish M Patel, Adrienne G Randolph, Pediatric Intensive Care Influenza, Overcoming Covid-19 Investigators

Faculty, Staff and Student Publications

Background: Clinical differences between critical illness from influenza infection vs coronavirus disease 2019 (COVID-19) have not been well characterized in pediatric patients.

Methods: We compared demographics, clinical characteristics, and outcomes of US children (aged 8 months to 17 years) admitted to the intensive care or high-acuity unit with influenza or COVID-19. Using mixed-effects models, we assessed the odds of death or requiring life support for influenza vs COVID-19 after adjustment for age, sex, race and Hispanic origin, and underlying conditions including obesity.

Results: Children with influenza (n = 179) were younger than those with COVID-19 (n = 381; median, 5.2 …

Bnt162b2 Mrna Vaccination Against Coronavirus Disease 2019 Is Associated With A Decreased Likelihood Of Multisystem Inflammatory Syndrome In Children Aged 5-18 Years-United States, July 2021 - April 2022, Laura D Zambrano, Margaret M Newhams, Samantha M Olson, Natasha B Halasa, Ashley M Price, Amber O Orzel, Cameron C Young, Julie A Boom, Leila C Sahni, Aline B Maddux, Katherine E Bline, Satoshi Kamidani, Keiko M Tarquinio, Kathleen Chiotos, Jennifer E Schuster, Melissa L Cullimore, Sabrina M Heidemann, Charlotte V Hobbs, Ryan A Nofziger, Pia S Pannaraj, Melissa A Cameron, Tracie C Walker, Stephanie P Schwartz, Kelly N Michelson, Bria M Coates, Heidi R Flori, Elizabeth H Mack, Laura Smallcomb, Shira J Gertz, Samina S Bhumbra, Tamara T Bradford, Emily R Levy, Michele Kong, Katherine Irby, Natalie Z Cvijanovich, Matt S Zinter, Cindy Bowens, Hillary Crandall, Janet R Hume, Manish M Patel, Angela P Campbell, Adrienne G Randolph, Overcoming Covid-19 Investigators

Faculty, Staff and Students Publications

BACKGROUND: Multisystem inflammatory syndrome in children (MIS-C), linked to antecedent severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, is associated with considerable morbidity. Prevention of SARS-CoV-2 infection or coronavirus disease 2019 (COVID-19) by vaccination might also decrease MIS-C likelihood.

METHODS: In a multicenter, case-control, public health investigation of children ages 5-18 years hospitalized from 1 July 2021 to 7 April 2022, we compared the odds of being fully vaccinated (2 doses of BNT162b2 vaccine ≥28 days before hospital admission) between MIS-C case-patients and hospital-based controls who tested negative for SARS-CoV-2. These associations were examined by age group, timing of vaccination, …