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Pediatric genetics

Anuja Bandyopadhyay, A Ioana Cristea, Stephanie D Davis, Veda L Ackerman, James E Slaven, Hasnaa E Jalou, Deborah C Givan, Ameet Daftary
RATIONALE: There is a lack of evidence regarding factors associated with failure of tracheostomy decannulation. OBJECTIVES: We aimed to identify characteristics of pediatric patients who fail a tracheostomy decannulation challenge Methods: A retrospective review was performed on all patients who had a decannulation challenge at a tertiary care center from June 2006 to October 2013. Tracheostomy decannulation failure was defined as reinsertion of the tracheostomy tube within 6 months of the challenge...
October 21, 2016: Annals of the American Thoracic Society
Afshin Fathi, Firuz Amani, Mohammad Davoodi, Sara Bahadoram, Mohammad Bahadoram
INTRODUCTION: Nasopharyngeal carcinoma among the children has been rare accounting for only 1% of all pediatric malignancies. Both genetic and environmental factors have contributed to the development of nasopharyngeal carcinoma. Among the children there was a higher rate of undifferentiated histology. The mean age of nasopharyngeal carcinoma diagnosis has been 11 years old age; and the most common site was nasopharynx. Palpable lymphadenopathy, dysphasia and neural defect were common associated signs...
August 2016: Iranian Journal of Cancer Prevention
A Olschewski, E M Berghausen, C A Eichstaedt, B K Fleischmann, E Grünig, G Grünig, G Hansmann, L Harbaum, J K Hennigs, D Jonigk, W M Kübler, G Kwapiszewska, S S Pullamsetti, E Stacher, N Weissmann, D Wenzel, R T Schermuly
The 2015 European Guidelines on Diagnosis and Treatment of Pulmonary Hypertension (PH) are also valid for Germany. While the guidelines contain detailed recommendations regarding clinical aspects of pulmonary arterial hypertension (PAH) and other forms of PH, they contain only a relatively short paragraph on novel findings on the pathobiology, pathology, and genetics. However, these are of great importance for our understanding of this complex disease both from a clinical and scientific point of view, and they are essential for the development of novel treatment strategies...
October 2016: Deutsche Medizinische Wochenschrift
Jolanta Skalska-Sadowska, Małgorzata Dawidowska, Bronisława Szarzyńska-Zawadzka, Małgorzata Jarmuż-Szymczak, Joanna Czerwińska-Rybak, Ludomiła Machowska, Katarzyna Derwich
We report a pediatric case of acute T-lymphoblastic leukemia (T-ALL) with NOTCH1(wt) , FBXW7(wt) , STIL/TAL1, and PTEN (exons 2, 3, 4, 5) monoallelic deletions, biallelic CDKN2A/B deletion, and a minor t(8;14)(q24;q11)-positive subclone. Undetectable by a flow cytometric minimal residual disease assay, the t(8;14)(q24;q11) subclone expanded as detected by fluorescence in situ hybridization from 5% at diagnosis to 26% before consolidation and 100% at relapse bearing a monoallelic deletion (exons 2, 3) with a new frameshift mutation of PTEN and the same set of remaining molecular alterations...
October 19, 2016: Pediatric Blood & Cancer
Simona Gaudino, Matia Martucci, Rosellina Russo, Emiliano Visconti, Emma Gangemi, Francesco D'Argento, Tommaso Verdolotti, Libero Lauriola, Cesare Colosimo
BACKGROUND: Pilocytic astrocytoma (PA) is the most common pediatric brain glioma and is considered the prototype of benign circumscribed astrocytoma. Despite its low malignancy, the CT and MRI features of brain PA may resemble those of much more aggressive brain tumors. Misdiagnosis of PA is particularly easy when it demonstrates MR morphological and non-morphological findings that are inconsistent with its non-aggressive nature and that overlap with the features of more aggressive brain tumors...
October 18, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Nicolas Lefèvre, Benjamin Noyon, Dominique Biarent, Francis Corazza, Jean Duchateau, Georges Casimir
PURPOSE AND METHODS: The severity and prognosis of various acute inflammatory conditions, such as sepsis, differ between males and females. The mechanisms underlying these sex differences probably involve both hormonal and genetic factors. In order to evaluate a possible genetic influence, we reviewed clinical signs and biological inflammatory markers of prepubertal children with severe sepsis admitted to the pediatric intensive care unit (PICU). FINDINGS: A total of 142 prepubertal children, 66 girls and 76 boys, suffering from severe sepsis and admitted to the PICU were included...
October 17, 2016: Shock
Alicia M Waters, Laura L Stafman, Evan F Garner, Smitha Mruthyunjayappa, Jerry E Stewart, Gregory K Friedman, Jennifer M Coleman, James M Markert, G Yancey Gillespie, Elizabeth A Beierle
Rhabdomyosarcoma (RMS), a tumor of skeletal muscle origin, is the most common sarcoma of childhood. Despite multidrug chemotherapy regimens, surgical intervention, and radiation treatment, outcomes remain poor, especially in advanced disease, and novel therapies are needed for the treatment of these aggressive malignancies. Genetically engineered oncolytic viruses, such as herpes simplex virus-1 (HSV), are currently being explored as treatments for pediatric tumors. M002, an oncolytic HSV, has both copies of the γ134...
October 2016: Translational Oncology
(no author information available yet)
Pediatric glioblastoma is one of the most common and most deadly brain tumors in childhood. Using an integrative genetic analysis of 53 pediatric glioblastomas and five in vitro model systems, we identified previously unidentified gene fusions involving the MET oncogene in ∼10% of cases. These MET fusions activated mitogen-activated protein kinase (MAPK) signaling and, in cooperation with lesions compromising cell cycle regulation, induced aggressive glial tumors in vivo. MET inhibitors suppressed MET tumor growth in xenograft models...
October 17, 2016: Nature Medicine
Tasuku Suzuki, Yoji Sasahara, Atsuo Kikuchi, Humihiko Kakuta, Toshihiko Kashiwabara, Takashi Ishige, Yoshiko Nakayama, Masanori Tanaka, Akihiro Hoshino, Hirokazu Kanegane, Daiki Abukawa, Shigeo Kure
PURPOSE: Pediatric inflammatory bowel disease (IBD) is a heterogeneous disorder caused by multiple factors. Although genetic and immunological analyses are required for a definitive diagnosis, no reports of a comprehensive genetic study of a Japanese population are available. METHODS: In total, 35 Japanese patients <16 years of age suffering from IBD, including 27 patients aged <6 years with very early-onset IBD, were enrolled in this multicenter study. Exome and targeted gene panel sequencing was performed for all patients...
October 17, 2016: Journal of Clinical Immunology
Donald Nuss, Robert J Obermeyer, Robert E Kelly
Historically, pectus excavatum (PE) was reported to be congenital, but in our experience only 22% are noticed in the first decade of life. Thus far, genetic studies support an autosomal recessive heritability, which coincides with only 40% of our patients having some positive family history, but is also contradictory given a constant sex ratio of 4:1 in favor of males. This inconsistency may be explained by the effect of more than one pectus disease-associated allele. Once the deformity is noticed, it tends to progress slowly until puberty, when rapid progression is often seen...
September 2016: Annals of Cardiothoracic Surgery
Deepak Dwivedi, Vidhu Bhatnagar, Urvashi Tandon, Kavitha Jinjil
No abstract text is available yet for this article.
September 2016: Anesthesia, Essays and Researches
Beryl Royer-Bertrand, Matteo Torsello, Donata Rimoldi, Ikram El Zaoui, Katarina Cisarova, Rosanna Pescini-Gobert, Franck Raynaud, Leonidas Zografos, Ann Schalenbourg, Daniel Speiser, Michael Nicolas, Laureen Vallat, Robert Klein, Serge Leyvraz, Giovanni Ciriello, Nicolò Riggi, Alexandre P Moulin, Carlo Rivolta
Uveal melanoma (UM) is a rare intraocular tumor that, similar to cutaneous melanoma, originates from melanocytes. To gain insights into its genetics, we performed whole-genome sequencing at very deep coverage of tumor-control pairs in 33 samples (24 primary and 9 metastases). Genome-wide, the number of coding mutations was rather low (only 17 variants per tumor on average; range 7-28), thus radically different from cutaneous melanoma, where hundreds of exonic DNA insults are usually detected. Furthermore, no UV light-induced mutational signature was identified...
October 6, 2016: American Journal of Human Genetics
Yang Liu, Anniwaer Yasheng, Kang Chen, Chuangxin Lan, Hamulati Tusong, Lili Ou, Yeping Liang, Hans-Göran Tiselius, Guohua Zeng, Wenqi Wu
The Objective of this study is to analyze the difference in renal stone composition between Uyghur and Han children with urolithiasis in China and possible reasons. From May 2011 to September 2013, we analyzed the stone compositions of 274 Chinese children with urolithiasis, including 151 Uyghur children from Xinjiang Province and 123 Han children from Guangdong Province. All the stone components were determined by Infrared spectroscopy and the main components were recorded. We also evaluated the data, including age, gender and geographic region of the patients...
October 15, 2016: Urolithiasis
Asim F Choudhri, Adeel Siddiqui, Paul Klimo
Cerebellar tumors are the most common group of solid tumors in children. MR imaging provides an important role in characterization of these lesions, surgical planning, and postsurgical surveillance. Preoperative imaging can help predict the histologic subtype of tumors, which can provide guidance for surgical planning. Beyond histology, pediatric brain tumors are undergoing new classification schemes based on genetic features. Intraoperative MR imaging has emerged as an important tool in the surgical management of pediatric brain tumors...
November 2016: Magnetic Resonance Imaging Clinics of North America
Adrienne Wang, Jacob Mouser, Jason Pitt, Daniel Promislow, Matt Kaeberlein
Pediatric mitochondrial disorders are a devastating category of diseases caused by deficiencies in mitochondrial function. Leigh Syndrome (LS) is the most common of these diseases with symptoms typically appearing within the first year of birth and progressing rapidly until death, usually by 6-7 years of age. Our lab has recently shown that genetic inhibition of the mechanistic target of rapamycin (TOR) rescues the short lifespan of yeast mutants with defective mitochondrial function, and that pharmacological inhibition of TOR by administration of rapamycin significantly rescues the shortened lifespan, neurological symptoms, and neurodegeneration in a mouse model of LS...
October 11, 2016: Oncotarget
Veronica Gomez-Lobo, Anne-Marie Amies Oelschlager
Disorders (differences) of sexual development encompass a variety of conditions with atypical development of chromosomal, gonadal, or anatomic sex. Three of the most common differences of sex development conditions include congenital adrenal hyperplasia, complete androgen insensitivity, and Turner syndrome. Obstetrician-gynecologists who care for affected individuals in their practice must be familiar with the genetic, endocrine, and anatomic considerations of the most common conditions to provide optimal care...
October 6, 2016: Obstetrics and Gynecology
Joseph F Levy, Marjorie A Rosenberg, Philip M Farrell
BACKGROUND: Previous estimates of the cost of care for pediatric Cystic fibrosis (CF) showed wide variation, without specific summary of pulmonary drug costs. METHODS: Enrolled CF children from the Wisconsin newborn screening trial were evaluated quarterly per protocol. Assessments systematically included all treatments, hospitalizations, and nutritional and pulmonary outcomes. Direct medical costs from hospital billing and medical records from 1989 to 2010 were used to describe costs by age-ranges and subgroups throughout follow-up...
October 14, 2016: Pediatric Pulmonology
M Mohammadi, M Goodarzi, M R Jaafari, H R Mirzaei, H Mirzaei
Neuroblastoma (NB) is known as a pediatric neoplasm that is associated with variable histopathological features. The use of biomarkers contributes to the monitoring and treatment of various malignancies such as NB. The identification of novel biomarkers such as (epi)genetic biomarkers and microRNAs (miRNAs) in NB has led to better treatments of NB. Among them, miRNAs have emerged as powerful tools in diagnosis, prognosis and therapeutic biomarkers for patients with NB. Circulating biomarkers such as circulating miRNAs present in body fluids (for example, plasma, serum and urine) provided an interesting field of study in NB treatment...
October 14, 2016: Cancer Gene Therapy
Thomas Naert, Robin Colpaert, Tom Van Nieuwenhuysen, Dionysia Dimitrakopoulou, Jannick Leoen, Jurgen Haustraete, Annekatrien Boel, Wouter Steyaert, Trees Lepez, Dieter Deforce, Andy Willaert, David Creytens, Kris Vleminckx
Retinoblastoma is a pediatric eye tumor in which bi-allelic inactivation of the Retinoblastoma 1 (RB1) gene is the initiating genetic lesion. Although recently curative rates of retinoblastoma have increased, there are at this time no molecular targeted therapies available. This is, in part, due to the lack of highly penetrant and rapid retinoblastoma animal models that facilitate rapid identification of targets that allow therapeutic intervention. Different mouse models are available, all based on genetic deactivation of both Rb1 and Retinoblastoma-like 1 (Rbl1), and each showing different kinetics of retinoblastoma development...
October 14, 2016: Scientific Reports
(no author information available yet)
Howard Jacob is best known for pioneering genomic sequencing of a patient to solve a mysterious pediatric case in 2010. With roots in pharmacology and cardiovascular disease, however, his career has largely been dedicated to dissecting the physiology and genetics of the rat to help understand complex human diseases. Howard was Director of the Human and Molecular Genetics Center at the Medical College of Wisconsin for 16 years, during which time he applied a combination of approaches, including quantitative genetics, integrative physiology and next-generation sequencing, in rat models to shed light on cardiovascular, metabolic and renal disorders...
October 1, 2016: Disease Models & Mechanisms
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