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Articles 31 - 48 of 48
Full-Text Articles in Life Sciences
Dnah6 And Its Interactions With Pcd Genes In Heterotaxy And Primary Ciliary Dyskinesia., You Li, Hisato Yagi, Ezenwa Obi Onuoha, Rama Rao Damerla, Richard Francis, Yoshiyuki Furutani, Iman Sami, Linda Leatherbury, +13 Additional Authors
Dnah6 And Its Interactions With Pcd Genes In Heterotaxy And Primary Ciliary Dyskinesia., You Li, Hisato Yagi, Ezenwa Obi Onuoha, Rama Rao Damerla, Richard Francis, Yoshiyuki Furutani, Iman Sami, Linda Leatherbury, +13 Additional Authors
Pediatrics Faculty Publications
Heterotaxy, a birth defect involving left-right patterning defects, and primary ciliary dyskinesia (PCD), a sinopulmonary disease with dyskinetic/immotile cilia in the airway are seemingly disparate diseases. However, they have an overlapping genetic etiology involving mutations in cilia genes, a reflection of the common requirement for motile cilia in left-right patterning and airway clearance. While PCD is a monogenic recessive disorder, heterotaxy has a more complex, largely non-monogenic etiology. In this study, we show mutations in the novel dynein gene DNAH6 can cause heterotaxy and ciliary dysfunction similar to PCD. We provide the first evidence that trans-heterozygous interactions between DNAH6 and …
Two Sampling Methods Yield Distinct Microbial Signatures In The Nasopharynges Of Asthmatic Children., Marcos Pérez-Losada, Keith A. Crandall, Robert J. Freishtat
Two Sampling Methods Yield Distinct Microbial Signatures In The Nasopharynges Of Asthmatic Children., Marcos Pérez-Losada, Keith A. Crandall, Robert J. Freishtat
Pediatrics Faculty Publications
Background
The nasopharynx is a reservoir for pathogens associated with respiratory illnesses, such as asthma. Next-generation sequencing (NGS) has been used to characterize the nasopharyngeal microbiome during health and disease. Most studies so far have surveyed the nasopharynx as a whole; however, less is known about spatial variation (biogeography) in nasal microenvironments and how sampling techniques may capture that microbial diversity.
Findings
We used targeted 16S rRNA MiSeq sequencing and two different sampling strategies [nasal washes (NW) and nasal brushes (NB)] to characterize the nasopharyngeal microbiota in 30 asthmatic children. Nasal brushing is more abrasive than nasal washing and targeted …
Dyslipidemia And Food Security In Low-Income Us Adolescents: National Health And Nutrition Examination Survey, 2003-2010., June M Tester, Barbara A Laraia, Cindy W Leung, Michele L. Mietus-Snyder
Dyslipidemia And Food Security In Low-Income Us Adolescents: National Health And Nutrition Examination Survey, 2003-2010., June M Tester, Barbara A Laraia, Cindy W Leung, Michele L. Mietus-Snyder
Pediatrics Faculty Publications
INTRODUCTION: Low levels of food security are associated with dyslipidemia and chronic disease in adults, particularly in women. There is a gap in knowledge about the relationship between food security among youth and dyslipidemia and chronic disease. We investigated the relationship between food security status and dyslipidemia among low-income adolescents.
METHODS: We analyzed data from adolescents aged 12 to 18 years (N = 1,072) from households with incomes at or below 200% of the federal poverty level from the National Health and Nutrition Examination Survey (NHANES) 2003-2010. We used logistic regression to examine the relationship between household food security status …
Discovery Of Metabolic Biomarkers For Duchenne Muscular Dystrophy Within A Natural History Study., Simina M. Boca, Maki Nishida, Michael Harris, Shruti Rao, Amrita Cheema, Kirandeep Gill, Haeri Seol, Lauren P. Morgenroth, Erik Henricson, Craig M. Mcdonald, Jean K. Mah, Paula R. Clemens, Eric P. Hoffman, Yetrib Hathout, Subha Madhavan
Discovery Of Metabolic Biomarkers For Duchenne Muscular Dystrophy Within A Natural History Study., Simina M. Boca, Maki Nishida, Michael Harris, Shruti Rao, Amrita Cheema, Kirandeep Gill, Haeri Seol, Lauren P. Morgenroth, Erik Henricson, Craig M. Mcdonald, Jean K. Mah, Paula R. Clemens, Eric P. Hoffman, Yetrib Hathout, Subha Madhavan
Pediatrics Faculty Publications
Serum metabolite profiling in Duchenne muscular dystrophy (DMD) may enable discovery of valuable molecular markers for disease progression and treatment response. Serum samples from 51 DMD patients from a natural history study and 22 age-matched healthy volunteers were profiled using liquid chromatography coupled to mass spectrometry (LC-MS) for discovery of novel circulating serum metabolites associated with DMD. Fourteen metabolites were found significantly altered (1% false discovery rate) in their levels between DMD patients and healthy controls while adjusting for age and study site and allowing for an interaction between disease status and age. Increased metabolites included arginine, creatine and unknown …
Circulating Fibroblast Growth Factor-2, Hiv-Tat, And Vascular Endothelial Cell Growth Factor-A In Hiv-Infected Children With Renal Disease Activate Rho-A And Src In Cultured Renal Endothelial Cells., Jharna R Das, J Silvio Gutkind, Patricio E. Ray
Circulating Fibroblast Growth Factor-2, Hiv-Tat, And Vascular Endothelial Cell Growth Factor-A In Hiv-Infected Children With Renal Disease Activate Rho-A And Src In Cultured Renal Endothelial Cells., Jharna R Das, J Silvio Gutkind, Patricio E. Ray
Pediatrics Faculty Publications
Renal endothelial cells (REc) are the first target of HIV-1 in the kidney. The integrity of REc is maintained at least partially by heparin binding growth factors that bind to heparan sulfate proteoglycans located on their cell surface. However, previous studies showed that the accumulation of two heparin-binding growth factors, Vascular Endothelial Cell Growth Factor-A (VEGF-A) and Fibroblast Growth Factor-2 (FGF-2), in combination with the viral protein Tat, can precipitate the progression of HIV-renal diseases. Nonetheless, very little is known about how these factors affect the behavior of REc in HIV+ children. We carried out this study to determine how …
Examination Of Reticulocytosis Among Chronically Transfused Children With Sickle Cell Anemia., Megha Kaushal, Colleen Byrnes, Zarir Khademian, Natalie Duncan, Naomi L.C. Luban, Jeffery L Miller, Ross M. Fasano, Emily Riehm Meier
Examination Of Reticulocytosis Among Chronically Transfused Children With Sickle Cell Anemia., Megha Kaushal, Colleen Byrnes, Zarir Khademian, Natalie Duncan, Naomi L.C. Luban, Jeffery L Miller, Ross M. Fasano, Emily Riehm Meier
Pediatrics Faculty Publications
Sickle cell anemia (SCA) is an inherited hemolytic anemia with compensatory reticulocytosis. Recent studies have shown that increased levels of reticulocytosis during infancy are associated with increased hospitalizations for SCA sequelae as well as cerebrovascular pathologies. In this study, absolute reticulocyte counts (ARC) measured prior to transfusion were analysed among a cohort of 29 pediatric SCA patients receiving chronic transfusion therapy (CTT) for primary and secondary stroke prevention. A cross-sectional flow cytometric analysis of the reticulocyte phenotype was also performed. Mean duration of CTT was 3.1 ± 2.6 years. Fifteen subjects with magnetic resonance angiography (MRA) -vasculopathy had significantly higher …
Molecular And Behavioral Profiling Of Dbx1-Derived Neurons In The Arcuate, Lateral And Ventromedial Hypothalamic Nuclei., Katie Sokolowski, Tuyen Tran, Shigeyuki Esumi, Yasmin Kamal, Livio Oboti, Julieta Lischinsky, Meredith Goodrich, Andrew Lam, Margaret Carter, Yasushi Nakagawa, Joshua G. Corbin
Molecular And Behavioral Profiling Of Dbx1-Derived Neurons In The Arcuate, Lateral And Ventromedial Hypothalamic Nuclei., Katie Sokolowski, Tuyen Tran, Shigeyuki Esumi, Yasmin Kamal, Livio Oboti, Julieta Lischinsky, Meredith Goodrich, Andrew Lam, Margaret Carter, Yasushi Nakagawa, Joshua G. Corbin
Pediatrics Faculty Publications
BACKGROUND: Neurons in the hypothalamus function to regulate the state of the animal during both learned and innate behaviors, and alterations in hypothalamic development may contribute to pathological conditions such as anxiety, depression or obesity. Despite many studies of hypothalamic development and function, the link between embryonic development and innate behaviors remains unexplored. Here, focusing on the embryonically expressed homeodomain-containing gene Developing Brain Homeobox 1 (Dbx1), we explored the relationship between embryonic lineage, post-natal neuronal identity and lineage-specific responses to innate cues. We found that Dbx1 is widely expressed across multiple developing hypothalamic subdomains. Using standard and inducible fate-mapping to …
The Clinical Outcome Study For Dysferlinopathy, Elizabeth Harris, Catherine Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Avital Cnaan, The Jain Cos Consortium
The Clinical Outcome Study For Dysferlinopathy, Elizabeth Harris, Catherine Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Avital Cnaan, The Jain Cos Consortium
Pediatrics Faculty Publications
Objective: To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy.
Methods: The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. We present a cross-sectional analysis of 193 patients derived from their baseline clinical and functional assessments.
Results: There is a high degree of variability in disease onset, pattern of weakness, and rate of progression. No factor, such as mutation class, protein expression, or age at onset, accounted for this variability. Among patients with clinical diagnoses of Miyoshi …
Incidence Of X And Y Chromosomal Aneuploidy In A Large Child Bearing Population., Carole Samango-Sprouse, Eser Kırkızlar, Megan P Hall, Patrick Lawson, Zachary Demko, Susan M Zneimer, Kirsten J Curnow, Susan Gross, Andrea Gropman
Incidence Of X And Y Chromosomal Aneuploidy In A Large Child Bearing Population., Carole Samango-Sprouse, Eser Kırkızlar, Megan P Hall, Patrick Lawson, Zachary Demko, Susan M Zneimer, Kirsten J Curnow, Susan Gross, Andrea Gropman
Pediatrics Faculty Publications
BACKGROUND: X&Y chromosomal aneuploidies are among the most common human whole-chromosomal copy number changes, but the population-based incidence and prevalence in the child-bearing population is unclear.
METHODS: This retrospective analysis of prospectively collected data leveraged a routine non-invasive prenatal test (NIPT) using parental genotyping to estimate the population-based incidence of X&Y chromosome variations in this population referred for NIPT (generally due to advanced maternal age).
RESULTS: From 141,916 women and 29,336 men, 119 X&Y chromosomal abnormalities (prevalence: 1 in 1,439) were identified. Maternal findings include: 43 cases of 45,X (40 mosaic); 30 cases of 47,XXX (12 mosaic); 3 cases of …
Making The Leap From Research Laboratory To Clinic: Challenges And Opportunities For Next-Generation Sequencing In Infectious Disease Diagnostics., Brittany Goldberg, Heike Sichtig, Chelsie Geyer, Nathan Ledeboer, George M Weinstock
Making The Leap From Research Laboratory To Clinic: Challenges And Opportunities For Next-Generation Sequencing In Infectious Disease Diagnostics., Brittany Goldberg, Heike Sichtig, Chelsie Geyer, Nathan Ledeboer, George M Weinstock
Pediatrics Faculty Publications
Next-generation DNA sequencing (NGS) has progressed enormously over the past decade, transforming genomic analysis and opening up many new opportunities for applications in clinical microbiology laboratories. The impact of NGS on microbiology has been revolutionary, with new microbial genomic sequences being generated daily, leading to the development of large databases of genomes and gene sequences. The ability to analyze microbial communities without culturing organisms has created the ever-growing field of metagenomics and microbiome analysis and has generated significant new insights into the relation between host and microbe. The medical literature contains many examples of how this new technology can be …
Extraordinary Diversity Of Immune Response Proteins Among Sea Urchins: Nickel-Isolated Sp185/333 Proteins Show Broad Variations In Size And Charge., Lauren S. Sherman, Catherine S. Schrankel, Kristy J. Brown, L. Courtney Smith
Extraordinary Diversity Of Immune Response Proteins Among Sea Urchins: Nickel-Isolated Sp185/333 Proteins Show Broad Variations In Size And Charge., Lauren S. Sherman, Catherine S. Schrankel, Kristy J. Brown, L. Courtney Smith
Pediatrics Faculty Publications
Effective protection against pathogens requires the host to produce a wide range of immune effector proteins. The Sp185/333 gene family, which is expressed by the California purple sea urchin Strongylocentrotus purpuratus in response to bacterial infection, encodes a highly diverse repertoire of anti-pathogen proteins. A subset of these proteins can be isolated by affinity to metal ions based on multiple histidines, resulting in one to four bands of unique molecular weight on standard Western blots, which vary depending on the individual sea urchin. Two dimensional gel electrophoresis (2DE) of nickel-isolated protein samples followed by Western blot was employed to detect …
Superresolution Imaging Of Human Cytomegalovirus Vmia Localization In Sub-Mitochondrial Compartments, Shivaprasad Bhuvanendran, Kyle Salka, Kristen Rainey, Sen Chandra Sreetama, Elizabeth Williams, Margretha Leeker, Vidhya Prasad, Jonathan Boyd, George H. Patterson, Jyoti K. Jaiswal, Anamaris M. Colberg-Poley
Superresolution Imaging Of Human Cytomegalovirus Vmia Localization In Sub-Mitochondrial Compartments, Shivaprasad Bhuvanendran, Kyle Salka, Kristen Rainey, Sen Chandra Sreetama, Elizabeth Williams, Margretha Leeker, Vidhya Prasad, Jonathan Boyd, George H. Patterson, Jyoti K. Jaiswal, Anamaris M. Colberg-Poley
Pediatrics Faculty Publications
The human cytomegalovirus (HCMV) viral mitochondria-localized inhibitor of apoptosis (vMIA) protein, traffics to mitochondria-associated membranes (MAM), where the endoplasmic reticulum (ER) contacts the outer mitochondrial membrane (OMM). vMIA association with the MAM has not been visualized by imaging. Here, we have visualized this by using a combination of confocal and superresolution imaging. Deconvolution of confocal microscopy images shows vMIA localizes away from mitochondrial matrix at the Mitochondria-ER interface. By gated stimulated emission depletion (GSTED) imaging, we show that along this interface vMIA is distributed in clusters. Through multicolor, multifocal structured illumination microscopy (MSIM), we find vMIA clusters localize away from …
Immunologic Special Forces: Anti-Pathogen Cytotoxic T-Lymphocyte Immunotherapy Following Hematopoietic Stem Cell Transplantation, Michael Keller, Catherine M. Bollard
Immunologic Special Forces: Anti-Pathogen Cytotoxic T-Lymphocyte Immunotherapy Following Hematopoietic Stem Cell Transplantation, Michael Keller, Catherine M. Bollard
Pediatrics Faculty Publications
Anti-pathogen adoptive T-cell immunotherapy has been proven to be highly effective in preventing or controlling viral infections following hematopoietic stem cell transplantation. Recent advances in manufacturing protocols allow an increased number of targeted pathogens, eliminate the need for viral transduction, broaden the potential donor pool to include pathogen-naïve sources, and reduce the time requirement for production. Early studies suggest that anti-fungal immunotherapy may also have clinical benefit. Future advances include further broadening of the pathogens that can be targeted and development of T-cells with resistance to pharmacologic immunosuppression.
Alloreactivity-Based Medical Conditions, Stanislav Vukmanovic, Margaret G. Petroff, Anne M. Stevens, Daniel Rukavina
Alloreactivity-Based Medical Conditions, Stanislav Vukmanovic, Margaret G. Petroff, Anne M. Stevens, Daniel Rukavina
Pediatrics Faculty Publications
No abstract provided.
Activation Of Human Herpesvirus Replication By Apoptosis, Alka Prasad, Jil Remick, Steven L. Zeichner
Activation Of Human Herpesvirus Replication By Apoptosis, Alka Prasad, Jil Remick, Steven L. Zeichner
Pediatrics Faculty Publications
A central feature of herpesvirus biology is the ability of herpesviruses to remain latent within host cells. Classically, exposure to inducing agents, like activating cytokines or phorbol esters that stimulate host cell signal transduction events, and epigenetic agents (e.g., butyrate) was thought to end latency. We recently showed that Kaposi's sarcoma-associated herpesvirus (KSHV, or human herpesvirus-8 [HHV-8]) has another, alternative emergency escape replication pathway that is triggered when KSHV's host cell undergoes apoptosis, characterized by the lack of a requirement for the replication and transcription activator (RTA) protein, accelerated late gene kinetics, and production of virus with decreased infectivity. Caspase-3 …
Breast Disorders In Children And Adolescents, Donald E. Greydanus, Hatim A. Omar, Lyubov A. Matytsina, Artemis Tsitsika
Breast Disorders In Children And Adolescents, Donald E. Greydanus, Hatim A. Omar, Lyubov A. Matytsina, Artemis Tsitsika
Pediatrics Faculty Publications
Concerns about problems of the breast are often noted in adolescents and their parents. This review discusses issues and disorders of the breast in children and adolescents, starting with basic principles of embryology and adolescent breast development. Concepts that are covered include congenital breast disorders, abnormal timing of breast development, breast asymmetry, underdeveloped breasts, breast atrophy, tuberous breasts, mammary hyperplasia, fibroadenoma, giant fibroadenoma, cystosarcoma phyllodes, intraductal breast papilloma, adenocarcinoma, mastitis, traumatic breast disorders, benign breast disease, fibrocystic change, mastalgia, gynocomastia, and galactorrhea. A number of figures are provided illustrating breast pathology. Clinicians caring for children and adolescents are encouraged to …
The Female Athlete, Dilip R. Patel, Donald E. Greydanus, Hatim A. Omar
The Female Athlete, Dilip R. Patel, Donald E. Greydanus, Hatim A. Omar
Pediatrics Faculty Publications
The female athlete has today became an accepted part of sports in elementary school, junior high, senior high, and college. This chapter covers various aspects of the prepubertal and pubertal female athlete. An historical perspective will be presented and selected comments provided on psychological and physiologic aspects of the female athlete. Concepts of adolescent gynecology are reviewed, including breast concerns and menstrual dilemmas in relation to sports activity. Exercise during pregnancy is also considered. Iron deficiency anemia and stress urinary incontinence
Menstrual Disorders In Adolescent Females, Donald E. Greydanus, Hatim A. Omar, Artemis Tsitsika, Dilip R. Patel
Menstrual Disorders In Adolescent Females, Donald E. Greydanus, Hatim A. Omar, Artemis Tsitsika, Dilip R. Patel
Pediatrics Faculty Publications
Onset of menstruation (i.e., menarche) is a determining event of the adolescent female signifying the progress of puberty, which in the majotity of cases is visibly initiated with thelarche (onset of breast development or breast buds). Menarche usually occurs during the earlier time of the second decade of life and ends with menopause, typically in the 5th decade of life. The adolescent can present with a wide variety of menstrual dilemmas and disorders which will be discussed in this chapter.