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Articles 61 - 90 of 227
Full-Text Articles in Pediatrics
Comparison Of Artifacts Between Paste And Collodion Method Of Electrode Application In Pediatric Eeg, D. Brigham, Y. Shah, K. Singh, I. Pavkovic, S. Karkare, S. V. Kothare
Comparison Of Artifacts Between Paste And Collodion Method Of Electrode Application In Pediatric Eeg, D. Brigham, Y. Shah, K. Singh, I. Pavkovic, S. Karkare, S. V. Kothare
Journal Articles
© 2019 International Federation of Clinical Neurophysiology Objectives: Children pose challenges to obtain quality EEG data due to excessive artifact. Collodion is used in EEG electrodes due to its water resistance and strong adhesive qualities. This study was done to evaluate differences in artifacts between the collodion and paste method. Methods: 115 subjects (children age >3 years) were randomized into paste and collodion groups and artifacts evaluated at baseline and every hour over 30 s increments. Age, sleep state, and number of electrodes with artifact were also documented. T-test was performed to determine differences in the various parameters between the …
Cost Of Survivorship Care And Adherence To Screening-Aligning The Priorities Of Health Care Systems And Survivors., C. Benedict, J. Wang, M. Reppucci, C. L. Schleien, J. D. Fish
Cost Of Survivorship Care And Adherence To Screening-Aligning The Priorities Of Health Care Systems And Survivors., C. Benedict, J. Wang, M. Reppucci, C. L. Schleien, J. D. Fish
Journal Articles
Childhood cancer survivors (CCS) experience significant morbidity due to treatment- related late effects and benefit from late-effects surveillance. Adherence to screening recommendations is suboptimal. Survivorship care programs often struggle with resource limitations and may benefit from understanding institution-level financial outcomes associated with patient adherence to justify programmatic development and growth. The purpose of this study is to examine how CCS adherence to screening recommendations relates to the cost of care, insurance status, and institution-level financial outcomes. A retrospective chart review of 286 patients, followed in a structured survivorship program, assessed adherence to the Children's Oncology Group follow-up guidelines by comparing …
Demographics And Outcomes Of Patients With Eating Disorders Treated In Residential Care, M. Fisher, J. R. Henretty, S. A. Cox, R. Feinstein, V. Fornari, L. Moskowitz, M. Schneider, S. Levine, J. Malizio, J. Fishbein
Demographics And Outcomes Of Patients With Eating Disorders Treated In Residential Care, M. Fisher, J. R. Henretty, S. A. Cox, R. Feinstein, V. Fornari, L. Moskowitz, M. Schneider, S. Levine, J. Malizio, J. Fishbein
Journal Articles
No abstract provided.
Early Oral Colostrum Administration In Preterm Infants, D. Maffei, M. Brewer, C. Codipilly, B. Weinberger, R. J. Schanler
Early Oral Colostrum Administration In Preterm Infants, D. Maffei, M. Brewer, C. Codipilly, B. Weinberger, R. J. Schanler
Journal Articles
No abstract provided.
Evaluation And Management Of Overweight And Obesity In Children And Adolescents – Current Problems In Pediatric And Adolescent Health Care, J. Kerns, M. Fisher
Evaluation And Management Of Overweight And Obesity In Children And Adolescents – Current Problems In Pediatric And Adolescent Health Care, J. Kerns, M. Fisher
Journal Articles
No abstract provided.
Gonococcal Osteomyelitis In A Pediatric Patient With Disseminated Gonococcal Infection: Implications For Antimicrobial Management, W. Liakos, B. Schaffler, S. Rajan, S. H. Hagmann
Gonococcal Osteomyelitis In A Pediatric Patient With Disseminated Gonococcal Infection: Implications For Antimicrobial Management, W. Liakos, B. Schaffler, S. Rajan, S. H. Hagmann
Journal Articles
© 2020 The Authors We report a case of a female teenager with gonococcal septic arthritis of the right shoulder that also caused osteomyelitis of the humeral head. Infection with Neisseria gonorrhoeae is a frequently diagnosed sexually transmitted infection in the sexually active teenage population and disseminated gonococcal infection (DGI) is the most common systemic manifestation of acute gonorrhea. DGI commonly involves acute arthritis, tenosynovitis and dermatitis with less common complications of endocarditis, hepatitis and meningitis. In contrast, osteomyelitis has only rarely been reported as a result of gonococcal infection. Clinicians need to be aware of this unusual manifestation of …
Management Of Pediatric Systemic Lupus Erythematosus: Focus On Belimumab, M. Guzman, J. S. Hui-Yuen
Management Of Pediatric Systemic Lupus Erythematosus: Focus On Belimumab, M. Guzman, J. S. Hui-Yuen
Journal Articles
No abstract provided.
Newborn Screening Protocols And Positive Predictive Value For Congenital Adrenal Hyperplasia Vary Across The United States, P. W. Speiser, R. Chawla, M. Chen, A. Diaz-Thomas, C. Finlayson, M. M. Rutter, D. E. Sandberg, K. Shimy, J. Cerise, E. C. Délot, +2 Additional Authors
Newborn Screening Protocols And Positive Predictive Value For Congenital Adrenal Hyperplasia Vary Across The United States, P. W. Speiser, R. Chawla, M. Chen, A. Diaz-Thomas, C. Finlayson, M. M. Rutter, D. E. Sandberg, K. Shimy, J. Cerise, E. C. Délot, +2 Additional Authors
Journal Articles
© 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). Newborn screening for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is mandated throughout the US. Filter paper blood specimens are assayed for 17-hydroxyprogesterone (17OHP). Prematurity, low birth weight, or critical illness cause falsely elevated results. The purpose of this report is to highlight differences in protocols among US state laboratories. We circulated a survey to state laboratory directors requesting qualitative and quantitative information about individual screening programs. Qualitative …
Use Of Organ Dysfunction As A Primary Outcome Variable Following Cecal Ligation And Puncture: Recommendations For Future Studies, M. N. Abraham, A. P. Kelly, A. B. Brandwein, T. D. Fernandes, D. E. Leisman, M. D. Taylor, M. R. Brewer, C. A. Capone, C. S. Deutschman
Use Of Organ Dysfunction As A Primary Outcome Variable Following Cecal Ligation And Puncture: Recommendations For Future Studies, M. N. Abraham, A. P. Kelly, A. B. Brandwein, T. D. Fernandes, D. E. Leisman, M. D. Taylor, M. R. Brewer, C. A. Capone, C. S. Deutschman
Journal Articles
Outcomes variables for research on sepsis have centered on mortality and changes in the host immune response. However, a recent task force (Sepsis-3) revised the definition of sepsis to "life-threatening organ dysfunction caused by a dysregulated host response to infection." This new definition suggests that human studies should focus on organ dysfunction. The appropriate criteria for organ dysfunction in either human sepsis or animal models are, however, poorly delineated, limiting the potential for translation. Further, in many systems, the difference between "dysfunction" and "injury" may not be clear. In this review, we identify criteria for organ dysfunction and/or injury in …
Characteristics And Risk Factors Associated With Critical Illness In Pediatric Covid-19, G. Fisler, S. M. Izard, S. Shah, D. Lewis, M. K. Kainth, S. H. F. Hagmann, J. A. Belfer, L. M. Feld, F. Mastroianni, C. L. Kvasnovsky, C. A. Capone, J. Schneider, T. Sweberg, C. Schleien, M. D. Taylor
Characteristics And Risk Factors Associated With Critical Illness In Pediatric Covid-19, G. Fisler, S. M. Izard, S. Shah, D. Lewis, M. K. Kainth, S. H. F. Hagmann, J. A. Belfer, L. M. Feld, F. Mastroianni, C. L. Kvasnovsky, C. A. Capone, J. Schneider, T. Sweberg, C. Schleien, M. D. Taylor
Journal Articles
© 2020, The Author(s). Background: While much has been reported regarding the clinical course of COVID-19 in children, little is known regarding factors associated with organ dysfunction in pediatric COVID-19. We describe critical illness in pediatric patients with active COVID-19 and identify factors associated with PICU admission and organ dysfunction. This is a retrospective chart review of 77 pediatric patients age 1 day to 21 years admitted to two New York City pediatric hospitals within the Northwell Health system between February 1 and April 24, 2020 with PCR + SARS-CoV-2. Descriptive statistics were used to describe the hospital course and …
Prevalence Of Cardiovascular Disease Risk Factors In Childhood Glomerular Diseases, I. F. Ashoor, S. A. Mansfield, M. M. O'Shaughnessy, R. S. Parekh, J. Zee, T. L. Vasylyeva, A. J. Kogon, C. B. Sethna, L. M. Guay-Woodford, +170 Additional Authors
Prevalence Of Cardiovascular Disease Risk Factors In Childhood Glomerular Diseases, I. F. Ashoor, S. A. Mansfield, M. M. O'Shaughnessy, R. S. Parekh, J. Zee, T. L. Vasylyeva, A. J. Kogon, C. B. Sethna, L. M. Guay-Woodford, +170 Additional Authors
Journal Articles
No abstract provided.
Hydroxyurea For Children With Sickle Cell Anemia In Sub-Saharan Africa, L. Tshilolo, G. Tomlinson, T. N. Williams, B. Santos, P. Olupot-Olupot, A. Lane, B. Aygun, S. E. Stuber, K. Mcelhinney, +59 Additional Authors
Hydroxyurea For Children With Sickle Cell Anemia In Sub-Saharan Africa, L. Tshilolo, G. Tomlinson, T. N. Williams, B. Santos, P. Olupot-Olupot, A. Lane, B. Aygun, S. E. Stuber, K. Mcelhinney, +59 Additional Authors
Journal Articles
No abstract provided.
Psychosocial Screening In Disorders/Differences Of Sex Development: Psychometric Evaluation Of The Psychosocial Assessment Tool, M. M. Ernst, M. Gardner, C. A. Mara, E. C. Délot, P. Y. Fechner, M. Fox, M. M. Rutter, P. W. Speiser, C. Foley, B. Yashar, +24 Additional Authors
Psychosocial Screening In Disorders/Differences Of Sex Development: Psychometric Evaluation Of The Psychosocial Assessment Tool, M. M. Ernst, M. Gardner, C. A. Mara, E. C. Délot, P. Y. Fechner, M. Fox, M. M. Rutter, P. W. Speiser, C. Foley, B. Yashar, +24 Additional Authors
Journal Articles
© 2019 S. Karger AG, Basel. Background/Aims: Utilization of a psychosocial screener to identify families affected by a disorder/difference of sex development (DSD) and at risk for adjustment challenges may facilitate efficient use of team resources to optimize care. The Psychosocial Assessment Tool (PAT) has been used in other pediatric conditions. The current study explored the reliability and validity of the PAT (modified for use within the DSD population; PAT-DSD). Methods: Participants were 197 families enrolled in the DSD-Translational Research Network (DSD-TRN) who completed a PAT-DSD during a DSD clinic visit. Psychosocial data were extracted from the DSD-TRN clinical registry. …
A Prospective Investigation Of Interleukin-8 Levels In Pediatric Acute Respiratory Failure And Acute Respiratory Distress Syndrome, H. Flori, A. Sapru, M. W. Quasney, G. Gildengorin, M. A. Curley, M. A. Matthay, M. K. Dahmer, S. T. Bateman, J. B. Schneider, D. Wypij, +20 Additional Authors
A Prospective Investigation Of Interleukin-8 Levels In Pediatric Acute Respiratory Failure And Acute Respiratory Distress Syndrome, H. Flori, A. Sapru, M. W. Quasney, G. Gildengorin, M. A. Curley, M. A. Matthay, M. K. Dahmer, S. T. Bateman, J. B. Schneider, D. Wypij, +20 Additional Authors
Journal Articles
© 2019 The Author(s). Background: The association of plasma interleukin-8 (IL-8), or IL-8 genetic variants, with pediatric acute respiratory distress syndrome (PARDS) in children with acute respiratory failure at risk for PARDS has not been examined. The purpose of this study was to examine the association of early and sequential measurement of plasma IL-8 and/or its genetic variants with development of PARDS and other clinical outcomes in mechanically ventilated children with acute respiratory failure. Methods: This was a prospective cohort study of children 2 weeks to 17 years of age with acute airways and/or parenchymal lung disease done in 22 …
Immunosuppressive Therapy For Pediatric Aplastic Anemia: A North American Pediatric Aplastic Anemia Consortium Study., Z. R. Rogers, T. A. Nakano, T. S. Olson, A. A. Bertuch, W. Wang, A. Gillio, T. D. Coates, A. Chawla, A. Vlachos, A. Shimamura, +19 Additional Authors
Immunosuppressive Therapy For Pediatric Aplastic Anemia: A North American Pediatric Aplastic Anemia Consortium Study., Z. R. Rogers, T. A. Nakano, T. S. Olson, A. A. Bertuch, W. Wang, A. Gillio, T. D. Coates, A. Chawla, A. Vlachos, A. Shimamura, +19 Additional Authors
Journal Articles
Quality of response to immunosuppressive therapy and long-term outcomes for pediatric severe aplastic anemia remain incompletely characterized. Contemporary evidence to inform treatment of relapsed or refractory severe aplastic anemia for pediatric patients is also limited. The clinical features and outcomes for 314 children treated from 2002 to 2014 with immunosuppressive therapy for acquired severe aplastic anemia were analyzed retrospectively from 25 institutions in the North American Pediatric Aplastic Anemia Consortium. The majority of subjects (n=264) received horse anti-thymocyte globulin (hATG) plus cyclosporine (CyA) with a median 61 months follow up. Following hATG/CyA, 71.2% (95%CI: 65.3,76.6) achieved an objective response. In …
Plasma Zonulin Levels In Childhood Nephrotic Syndrome, H. Trachtman, D. S. Gipson, K. V. Lemley, J. P. Troost, C. Faul, D. J. Morrison, S. M. Vento, D. H. Ahn, C. Sethna, C. Avila-Casado, +90 Additional Authors
Plasma Zonulin Levels In Childhood Nephrotic Syndrome, H. Trachtman, D. S. Gipson, K. V. Lemley, J. P. Troost, C. Faul, D. J. Morrison, S. M. Vento, D. H. Ahn, C. Sethna, C. Avila-Casado, +90 Additional Authors
Journal Articles
© 2019 Trachtman, Gipson, Lemley, Troost, Faul, Morrison, Vento, Ahn and Goldberg. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. Objective: We conducted this study to test the hypothesis that plasma zonulin levels are elevated in pediatric patients with nephrotic syndrome …
Text Messaging For Disease Monitoring In Childhood Nephrotic Syndrome, C. S. Wang, J. P. Troost, L. A. Greenbaum, T. Srivastava, K. Reidy, K. Gibson, H. Trachtman, J. D. Piette, C. B. Sethna, D. S. Gipson, +12 Additional Authors
Text Messaging For Disease Monitoring In Childhood Nephrotic Syndrome, C. S. Wang, J. P. Troost, L. A. Greenbaum, T. Srivastava, K. Reidy, K. Gibson, H. Trachtman, J. D. Piette, C. B. Sethna, D. S. Gipson, +12 Additional Authors
Journal Articles
© 2019 International Society of Nephrology Introduction: There is limited information on effective disease monitoring for prompt interventions in childhood nephrotic syndrome. We examined the feasibility and effectiveness of a novel text messaging system (SMS) for disease monitoring in a multicenter, prospective study. Methods: A total of 127 patients results, symptoms, and medication adherence were sent to a designated caregiver (n = 116) or adolescent patient (n = 3). Participants responded by texting. Feasibility of SMS was assessed by SMS adoption, retention, and engagement, and concordance between participant-reported results and laboratory/clinician assessments. The number of disease relapses and time-to-remission data …
Serum S100a8/A9 And S100a12 Levels In Children With Polyarticular Forms Of Juvenile Idiopathic Arthritis: Relationship To Maintenance Of Clinically Inactive Disease During Anti–Tumor Necrosis Factor Therapy And Occurrence Of Disease Flare After Discontinuation Of Therapy, C. H. Hinze, D. Foell, A. L. Johnson, S. J. Spalding, B. S. Gottlieb, P. W. Morris, Y. Kimura, K. Onel, S. C. Li, D. J. Lovell, +33 Additional Authors
Serum S100a8/A9 And S100a12 Levels In Children With Polyarticular Forms Of Juvenile Idiopathic Arthritis: Relationship To Maintenance Of Clinically Inactive Disease During Anti–Tumor Necrosis Factor Therapy And Occurrence Of Disease Flare After Discontinuation Of Therapy, C. H. Hinze, D. Foell, A. L. Johnson, S. J. Spalding, B. S. Gottlieb, P. W. Morris, Y. Kimura, K. Onel, S. C. Li, D. J. Lovell, +33 Additional Authors
Journal Articles
© 2018, American College of Rheumatology Objective: To determine the relationship between serum levels of S100A8/A9 and S100A12 and the maintenance of clinically inactive disease during anti–tumor necrosis factor (anti-TNF) therapy and the occurrence of disease flare following withdrawal of anti-TNF therapy in patients with polyarticular forms of juvenile idiopathic arthritis (JIA). Methods: In this prospective, multicenter study, 137 patients with polyarticular-course JIA whose disease was clinically inactive while receiving anti-TNF therapy were enrolled. Patients were observed for an initial 6-month phase during which anti-TNF treatment was continued. For those patients who maintained clinically inactive disease over the 6 months, …
Correlates Of Genetic Attributions Among Parents Of Children In The Usa With Developmental Disabilities, B. Kiely, S. Vettam, A. Adesman
Correlates Of Genetic Attributions Among Parents Of Children In The Usa With Developmental Disabilities, B. Kiely, S. Vettam, A. Adesman
Journal Articles
© 2019 Kiely et al. php and incorporate. Introduction: As technologies for identifying causal genetic variants in children with autism spectrum disorders (ASD) and other developmental conditions continue to advance, there is a need to understand the factors that influence parental beliefs about the causes of their child’s disabilities. This study assessed the correlates of etiologic attributions among US parents of children with ASD, intellectual disability (ID), and/or developmental delay (DD). Methods: Data were obtained from the Centers for Disease Control and Prevention’s nationally representative Survey of Pathways to Diagnosis and Services. Respondents were classified according to whether their child …
Demographics And Anthropometrics Impact Benefits Of Health Intervention: Data From The Reduce Obesity And Diabetes Project., L. Ostrowski, P. W. Speiser, S. Accacha, L. Altshuler, I. Fennoy, B. Lowell, R. Rapaport, W. Rosenfeld, S. P. Shelov, Road Group, +2 Additional Authors
Demographics And Anthropometrics Impact Benefits Of Health Intervention: Data From The Reduce Obesity And Diabetes Project., L. Ostrowski, P. W. Speiser, S. Accacha, L. Altshuler, I. Fennoy, B. Lowell, R. Rapaport, W. Rosenfeld, S. P. Shelov, Road Group, +2 Additional Authors
Journal Articles
Objective:To determine the efficacy of a 4-month school-based health, nutrition and exercise intervention on body fatness and examine possible effects of demographic and anthropometric covariates. Methods:Height, weight, waist circumference and body composition were measured in a diverse population of 644 NYC middle school students (mean ± SD age 12.7 ± 0.9 years; 46% male; 38% Hispanic, 17% East Asian, 15% South Asian, 13.5% African American, 8.5% Caucasian, 8% other) during the fall and spring semesters. Year 1 participants (n = 322) were controls. Experimental participants (year 2, n = 469) received a 12-session classroom-based health and nutrition educational programme with …
Emerging Medical Therapies For Congenital Adrenal Hyperplasia, P. W. Speiser
Emerging Medical Therapies For Congenital Adrenal Hyperplasia, P. W. Speiser
Journal Articles
© 2019 Speiser PW. Congenital adrenal hyperplasia has traditionally been treated with daily oral doses of glucocorticoids and mineralocorticoid supplements. Such therapy does not precisely replicate the adrenal cortex's circadian pattern. As a consequence, patients are intermittently overtreated or undertreated leading to growth suppression in children, excess weight gain and altered metabolism. Several new treatments are on the horizon. This article will summarize some new potential therapies as adjuncts to, or replacement for, standard therapy.
Sr-B1 Drives Endothelial Cell Ldl Transcytosis Via Dock4 To Promote Atherosclerosis, L. Huang, K. L. Chambliss, X. Gao, I. S. Yuhanna, E. Behling-Kelly, S. Bergaya, M. Ahmed, P. Michaely, K. Luby-Phelps, P. W. Shaul, +5 Additional Authors
Sr-B1 Drives Endothelial Cell Ldl Transcytosis Via Dock4 To Promote Atherosclerosis, L. Huang, K. L. Chambliss, X. Gao, I. S. Yuhanna, E. Behling-Kelly, S. Bergaya, M. Ahmed, P. Michaely, K. Luby-Phelps, P. W. Shaul, +5 Additional Authors
Journal Articles
© 2019, The Author(s), under exclusive licence to Springer Nature Limited. Atherosclerosis, which underlies life-threatening cardiovascular disorders such as myocardial infarction and stroke1, is initiated by passage of low-density lipoprotein (LDL) cholesterol into the artery wall and its engulfment by macrophages, which leads to foam cell formation and lesion development2,3. It is unclear how circulating LDL enters the artery wall to instigate atherosclerosis. Here we show in mice that scavenger receptor class B type 1 (SR-B1) in endothelial cells mediates the delivery of LDL into arteries and its accumulation by artery wall macrophages, thereby promoting atherosclerosis. LDL particles are colocalized …
Caffeine Inhibits Hypoxia-Induced Nuclear Accumulation In Hif-1Α And Promotes Neonatal Neuronal Survival, H. L. Li, N. Zaghloul, I. Ahmed, A. Omelchenko, B. L. Firestein, H. Huang, L. Collins
Caffeine Inhibits Hypoxia-Induced Nuclear Accumulation In Hif-1Α And Promotes Neonatal Neuronal Survival, H. L. Li, N. Zaghloul, I. Ahmed, A. Omelchenko, B. L. Firestein, H. Huang, L. Collins
Journal Articles
© 2019 The Authors Apnea of prematurity (AOP) defined as cessation of breathing for 15–20 s, is commonly seen in preterm infants. Caffeine is widely used to treat AOP due to its safety and effectiveness. Caffeine releases respiratory arrest by competing with adenosine for binding to adenosine A 1 and A 2A receptors (A 1 R and A 2A R). Long before its use in treating AOP, caffeine has been used as a psychostimulant in adult brains. However, the effect of caffeine on developing brains remains unclear. We found that A 1 R proteins for caffeine binding were expressed in …
Ampa Receptor Glua2 Subunit Defects Are A Cause Of Neurodevelopmental Disorders, V. Salpietro, C. L. Dixon, H. Guo, O. D. Bello, J. Vandrovcova, S. Efthymiou, R. Maroofian, S. Chen, L. Pisani, F. Madia, +90 Additional Authors
Ampa Receptor Glua2 Subunit Defects Are A Cause Of Neurodevelopmental Disorders, V. Salpietro, C. L. Dixon, H. Guo, O. D. Bello, J. Vandrovcova, S. Efthymiou, R. Maroofian, S. Chen, L. Pisani, F. Madia, +90 Additional Authors
Journal Articles
© 2019, The Author(s). AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits …
Author Correction: Chd3 Helicase Domain Mutations Cause A Neurodevelopmental Syndrome With Macrocephaly And Impaired Speech And Language., L. S. Blok, J. Rousseau, J. Twist, S. Ehresmann, M. Takaku, H. Venselaar, L. H. Rodan, M. G. Bialer, C. Moore, M. Blyth, +90 Additional Authors
Author Correction: Chd3 Helicase Domain Mutations Cause A Neurodevelopmental Syndrome With Macrocephaly And Impaired Speech And Language., L. S. Blok, J. Rousseau, J. Twist, S. Ehresmann, M. Takaku, H. Venselaar, L. H. Rodan, M. G. Bialer, C. Moore, M. Blyth, +90 Additional Authors
Journal Articles
© 2019, The Author(s). The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article.
De Novo Interstitial Deletion Of 9q In A Pediatric Patient With Global Developmental Delay., D. Keselman, R. Singh, N. Cohen, Z. Fefer
De Novo Interstitial Deletion Of 9q In A Pediatric Patient With Global Developmental Delay., D. Keselman, R. Singh, N. Cohen, Z. Fefer
Journal Articles
Cytogenomic microarray (CMA) methodologies, including array comparative genomic hybridization (aCGH) and single-nucleotide polymorphism-detecting arrays (SNP-array), are recommended as the first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. The authors report on a child with global developmental delay (GDD) and a de novo interstitial 7.0 Mb deletion of 9q21.33q22.31 detected by aCGH. The patient that the authors report here is noteworthy in that she presented with GDD and her interstitial deletion is not inclusive of the 9q22.32 locus that includes the PTCH1 gene, which is implicated in Gorlin syndrome, or basal cell nevus …
Persistent Cloaca And Caudal Duplication In A Monovular Twin, A Rare Case Report, N. Cohen, M. N. Ahmed, R. Goldfischer, N. Zaghloul
Persistent Cloaca And Caudal Duplication In A Monovular Twin, A Rare Case Report, N. Cohen, M. N. Ahmed, R. Goldfischer, N. Zaghloul
Journal Articles
© 2019 Introduction: A cloaca occurs when genitourinary tract and bowel converge into a common channel. We report a case of partial caudal duplication, persistent cloaca and vestigial appendage in a monovular female twin infant. Presentation of case: This is a monochorinonic-diamniotic twin born at 36 weeks with apgars of 9/9. She had a duplicated labia with two clitorises, and a partially formed accessory foot with 2 toes protruding from the right gluteal region. There was anal atresia and a punctate urethral opening in the right genitalia through which she voided spontaneously. X-ray of the accessory foot had rudimentary metatarsals …
Quantitative Human Immunodeficiency Virus (Hiv)-1 Antibodies Correlate With Plasma Hiv-1 Rna And Cell-Associated Dna Levels In Children On Antiretroviral Therapy, M. Mcmanus, J. Henderson, A. Gautam, R. Brody, E. R. Weiss, D. Persaud, E. Mick, K. Luzuriaga, V. Bonagura, I. Febo, +22 Additional Authors
Quantitative Human Immunodeficiency Virus (Hiv)-1 Antibodies Correlate With Plasma Hiv-1 Rna And Cell-Associated Dna Levels In Children On Antiretroviral Therapy, M. Mcmanus, J. Henderson, A. Gautam, R. Brody, E. R. Weiss, D. Persaud, E. Mick, K. Luzuriaga, V. Bonagura, I. Febo, +22 Additional Authors
Journal Articles
No abstract provided.
Ulcerative Colitis Mucosal Transcriptomes Reveal Mitochondriopathy And Personalized Mechanisms Underlying Disease Severity And Treatment Response, Y. Haberman, R. Karns, P. J. Dexheimer, M. Schirmer, J. Somekh, I. Jurickova, T. Braun, E. Novak, J. Markowitz, L. A. Denson, +32 Additional Authors
Ulcerative Colitis Mucosal Transcriptomes Reveal Mitochondriopathy And Personalized Mechanisms Underlying Disease Severity And Treatment Response, Y. Haberman, R. Karns, P. J. Dexheimer, M. Schirmer, J. Somekh, I. Jurickova, T. Braun, E. Novak, J. Markowitz, L. A. Denson, +32 Additional Authors
Journal Articles
© 2019, The Author(s). Molecular mechanisms driving disease course and response to therapy in ulcerative colitis (UC) are not well understood. Here, we use RNAseq to define pre-treatment rectal gene expression, and fecal microbiota profiles, in 206 pediatric UC patients receiving standardised therapy. We validate our key findings in adult and paediatric UC cohorts of 408 participants. We observe a marked suppression of mitochondrial genes and function across cohorts in active UC, and that increasing disease severity is notable for enrichment of adenoma/adenocarcinoma and innate immune genes. A subset of severity genes improves prediction of corticosteroid-induced remission in the discovery …
Homozygous Nlrp1 Gain-Of-Function Mutation In Siblings With A Syndromic Form Of Recurrent Respiratory Papillomatosis, S. B. Drutman, F. Haerynck, F. L. Zhong, D. Hum, N. J. Hernandez, S. Belkaya, F. Rapaport, S. J. De Jong, V. R. Bonagura, J. Laurent-Casanova, +13 Additional Authors
Homozygous Nlrp1 Gain-Of-Function Mutation In Siblings With A Syndromic Form Of Recurrent Respiratory Papillomatosis, S. B. Drutman, F. Haerynck, F. L. Zhong, D. Hum, N. J. Hernandez, S. Belkaya, F. Rapaport, S. J. De Jong, V. R. Bonagura, J. Laurent-Casanova, +13 Additional Authors
Journal Articles
© 2019 National Academy of Sciences. All rights reserved. Juvenile-onset recurrent respiratory papillomatosis (JRRP) is a rare and debilitating childhood disease that presents with recurrent growth of papillomas in the upper airway. Two common human papillomaviruses (HPVs), HPV-6 and -11, are implicated in most cases, but it is still not understood why only a small proportion of children develop JRRP following exposure to these common viruses. We report 2 siblings with a syndromic form of JRRP associated with mild dermatologic abnormalities. Whole-exome sequencing of the patients revealed a private homozygous mutation in NLRP1, encoding Nucleotide-Binding Domain Leucine-Rich Repeat Family Pyrin …