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Pediatric genetics

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https://www.readbyqxmd.com/read/28333917/a-clinical-utility-study-of-exome-sequencing-versus-conventional-genetic-testing-in-pediatric-neurology
#1
Lisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G Brunner, Simone van der Burg, Janneke Grutters, Joris A Veltman, Michèl A A P Willemsen
PURPOSE: Implementation of novel genetic diagnostic tests is generally driven by technological advances because they promise shorter turnaround times and/or higher diagnostic yields. Other aspects, including impact on clinical management or cost-effectiveness, are often not assessed in detail prior to implementation. METHODS: We studied the clinical utility of whole-exome sequencing (WES) in complex pediatric neurology in terms of diagnostic yield and costs. We analyzed 150 patients (and their parents) presenting with complex neurological disorders of suspected genetic origin...
March 23, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28329640/diagnostic-parameters-of-children-with-basal-cell-carcinoma-nevus-syndrome
#2
Fariha T Siddiqui
Basal Cell Carcinoma Nevus Syndrome (BCCNS) is a multi-system genetic disease characterized by the development of multiple basal cell carcinomas (BCCs), macrocephaly, medulloblastomas, jaw keratocysts, and coarse facial features, amongst other symptoms. The major and minor criteria for adults with BCCNS are often extrapolated for children, however, little is known about the disease presentation of children with BCCNS. Our study focused on bringing the pediatric presentation of BCCNS to light. To the best of our knowledge, we are the first to investigate BCCNS and its medical impact on children...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28328359/pediatric-acute-care-decision-implications-of-genetically-discoverable-mental-disorders
#3
Danton Char
No abstract text is available yet for this article.
April 2017: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/28326955/a-challenging-case-of-severe-infantile-cholestasis-in-alpha-1-antitrypsin-deficiency
#4
Zahida Khan, Veena L Venkat, Kyle A Soltys, Donna B Stolz, Sarangarajan Ranganathan
Jaundice in the newborn period can be physiologic and is often due to benign causes. Jaundice due to conjugated hyperbilirubinemia extending beyond the second week of life may be an early sign of several cholestatic or metabolic liver diseases, and it requires logical and timely analysis so that specific treatments can be initiated. Alpha-1 antitrypsin deficiency is the most common genetic cause of pediatric liver disease and transplantation, and it must be considered when evaluating cholestatic infants. Here, we present an unusual case of alpha-1 antitrypsin deficiency with severe infantile cholestasis and rapid decompensation in the first 4 months of life, where in-depth but timely diagnosis was crucial for the appropriate intervention to take place...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28325641/spectrum-of-nondystrophic-skeletal-muscle-channelopathies-in-children
#5
Fouad Al-Ghamdi, Basil T Darras, Partha S Ghosh
BACKGROUND: The nondystrophic skeletal muscle channelopathies are a group of disorders caused by mutations of various voltage-gated ion channel genes, including nondystrophic myotonia and periodic paralysis. METHODS: We identified patients with a diagnosis of muscle channelopathy from our neuromuscular database in a tertiary care pediatric center from 2005 to 2015. We then performed a retrospective review of their medical records for demographic characteristics, clinical features, investigations, treatment, and follow-up...
February 16, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28325522/giant-aneurysms-a-gender-specific-complication-of-kawasaki-disease
#6
Sanne M Dietz, Irene M Kuipers, Carline E A Tacke, Jeffrey C D Koole, Barbara A Hutten, Taco W Kuijpers
BACKGROUND: Kawasaki disease (KD) is a pediatric vasculitis of unknown origin. Its main complication is the development of coronary artery aneurysms (CAA) with giant CAA at the end of the spectrum. METHODS: In this cohort study, we evaluated the association between patient characteristics and the development of giant CAA based on z-scores. Multivariable, multinomial logistic regression analysis was used to identify variables associated with giant CAA. RESULTS: A total of 301 KD patients, comprising 216 patients without enlargement, 45 with small-sized, 19 with medium-sized, and 21 with giant CAA with all echocardiographies at our center were retrospectively included...
March 18, 2017: Journal of Cardiology
https://www.readbyqxmd.com/read/28324682/gene-expression-analysis-in-untreated-absence-epilepsy-demonstrates-an-inconsistent-pattern
#7
Markus von Deimling, Robert Häsler, Verena Steinbach, Paul-Martin Holterhus, Sarah von Spiczak, Ulrich Stephani, Ingo Helbig, Hiltrud Muhle
OBJECTIVE: Childhood and Juvenile Absence Epilepsy account for 30% of all genetic generalized epilepsies with a strong genetic contribution. At the current state the genetic background remains to be resolved. The aim of this study was to identify disease associated transcripts pinpointing potential underlying disease mechanisms in patients with CAE and JAE. METHODS: We performed gene expression analysis from peripheral blood mononuclear cells (PBMCs) in 30 patients with newly-diagnosed absence epilepsy prior to initiating treatment and 30 healthy age - and gender-matched pediatric controls...
February 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28324046/characteristics-of-pediatric-vs-adult-pheochromocytomas-and-paragangliomas
#8
Christina Pamporaki, Barbora Hamplova, Mirko Peitzsch, Aleksander Prejbisz, Felix Beuschlein, Henri J L M Timmers, Martin Fassnacht, Barbara Klink, Maya Lodish, Constantine A Stratakis, Angela Huebner, Stephanie Fliedner, Mercedes Robledo, Richard O Sinnott, Andrzej Januszewicz, Karel Pacak, Graeme Eisenhofer
Context: Pheochromocytomas and paragangliomas (PPGLs) in children are often hereditary and may present with different characteristics compared to adults. Hereditary PPGLs can be separated into two groups: cluster 1 and cluster 2 tumors due to mutations impacting hypoxia and kinase receptor signaling pathways respectively. Objective: To identify differences in presentation of PPGLs between children and adults. Design: A retrospective cross-sectional clinical study...
January 31, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323911/monogenic-diabetes-accounts-for-6-3-of-cases-referred-to-15-italian-pediatric-diabetes-centers-during-2007-2012
#9
Maurizio Delvecchio, Enza Mozzillo, Giuseppina Salzano, Dario Iafusco, Giulio Frontino, Patrizia I Patera, Ivana Rabbone, Valentino Cherubini, Valeria Grasso, Nadia Tinto, Sabrina Giglio, Giovanna Contreas, Rosa Di Paola, Alessandro Salina, Vittoria Cauvin, Stefano Tumini, Giuseppe d'Annunzio, Lorenzo Iughetti, Vilma Mantovani, Giulio Maltoni, Sonia Toni, Marco Marigliano, Fabrizio Barbetti
Context: Etiologic diagnosis of diabetes may impact on therapeutic strategy, and prognosis of chronic complications. Objective: The aim of the study was to establish the relative percentage of different diabetes subtypes in patients attending Italian pediatric diabetes centers, and the influence of etiologic diagnosis on therapy. Design, Setting and Patients: This was a retrospective study. Clinical records of 3781 consecutive patients (age: 0-18 years) referred to fifteen pediatric diabetes clinics and diagnosed with diabetes or IFG between Jan/1/2007 and Dec/31/2012 were examined...
February 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323747/supporting-a-youth-with-cerebellar-ataxia-into-adolescence
#10
Veronica Meneses, Zurisadai Gonzalez-Castillo, Veronica B Edgar, Marilyn Augustyn
Zoe, a 13-year-old white girl, presents as a new patient to your pediatric clinic with complaints of frequent emesis, anxiety, and learning problems, and previous diagnosis of cerebellar ataxia. Parents accompany Zoe and state, "it is really hard for her to go out, she gets sick and falls easily." She was born full term by vaginal delivery without complications. Given globally delayed milestones, she received early intervention services. Feeding problems began at infancy, including gastroesophageal reflux and aspiration pneumonia...
March 17, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28323671/codeine-and-opioid-metabolism-implications-and-alternatives-for-pediatric-pain-management
#11
Vidya Chidambaran, Senthilkumar Sadhasivam, Mohamed Mahmoud
PURPOSE OF REVIEW: Use of perioperative opioids for surgical pain management of children presents clinical challenges because of concerns of serious adverse effects including life-threatening respiratory depression. This is especially true for children with history of obstructive sleep apnea. This review will explore current knowledge of clinically relevant factors and genetic polymorphisms that affect opioid metabolism and postoperative outcomes in children. RECENT FINDINGS: Within the past several years, an increasing number of case reports have illustrated clinically important respiratory depression, anoxic brain injuries and even death among children receiving appropriate weight-based dosages of codeine and other opioids for analgesia at home setting particularly following tonsillectomy...
March 18, 2017: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/28323645/pediatric-multiple-sclerosis
#12
Anusha K Yeshokumar, Sona Narula, Brenda Banwell
PURPOSE OF REVIEW: This review discusses the epidemiologic factors involved in the pathogenesis of pediatric multiple sclerosis (MS), which have been the focus of numerous studies in the last several years. We also review the clinical features (including diagnostic evaluation and differential diagnosis) of, treatment approach to, and prognosis of pediatric MS. RECENT FINDINGS: Up to 10% of patients with MS have their initial demyelinating before the age of 18 years...
March 20, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28323555/influence-of-dopamine-related-genes-on-neurobehavioral-recovery-after-traumatic-brain-injury-during-early-childhood
#13
Amery Treble-Barna, Shari L Wade, Lisa J Martin, Valentina Pilipenko, Keith Owen Yeates, H Gerry Taylor, Brad G Kurowski
The present study examined the association of dopamine-related genes with short- and long-term neurobehavioral recovery, as well as neurobehavioral recovery trajectories over time, in children who had sustained early childhood traumatic brain injuries (TBI) relative to children who had sustained orthopedic injuries (OI). Participants were recruited from a prospective, longitudinal study evaluating outcomes of children who sustained a TBI (n = 68) or OI (n = 72) between the ages of 3 and 7 years. Parents completed ratings of child executive function and behavior at the immediate post-acute period (0-3 months after injury); 6, 12, and 18 months after injury; and an average of 3...
March 21, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28322114/predictive-value-of-gjb2-mutation-status-for-hearing-outcomes-of-pediatric-cochlear-implantation
#14
Yasin Abdurehim, Alexandre Lehmann, Anthony G Zeitouni
Objective To systematically review and quantify current evidence regarding the association of GJB2 mutation status with outcomes of pediatric cochlear implantation. Data Sources PubMed, Embase, and the Cochrane Library were searched for "GJB2,"pediatric hearing loss," and "cochlear implantation" and their synonyms, with no language restrictions, until December 2, 2015. Review Methods Studies were included that investigated the status of GJB2 mutation and its predictive value for outcomes of pediatric cochlear implantation...
March 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28321121/dnmt3a-regulates-t-cell-development-and-suppresses-t-all-transformation
#15
A C Kramer, A Kothari, W C Wilson, H Celik, J Nikitas, C Mallaney, E L Ostrander, E Eultgen, A Martens, M C Valentine, A L Young, T E Druley, M E Figueroa, B Zhang, G A Challen
T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematopoietic neoplasm resulting from the malignant transformation of T-cell progenitors, and comprises approximately 15 and 25% of pediatric and adult ALL cases respectively. It is well-established that activating NOTCH1 mutations are the major genetic lesions driving T-ALL in most patients, but efforts to develop targeted therapies against this pathway have produced limited success in decreasing leukemic burden and come with significant clinical side effects...
March 21, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28320170/evaluating-the-association-of-allergies-with-multiple-sclerosis-susceptibility-risk-and-disease-activity-in-a-pediatric-population
#16
Theresa Bourne, Michael Waltz, T C Casper, K Kavak, G Aaen, A Belman, L Benson, M Candee, T Chitnis, J Graves, B Greenberg, M Gorman, Y Harris, L Krupp, T Lotze, S Mar, J Ness, C Olsen, S Roalstad, M Rodriguez, J Rose, J Rubin, T Schreiner, J M Tillema, I Kahn, A Waldman, L Barcellos, E Waubant, B Weinstock-Guttman
BACKGROUND: Multiple sclerosis (MS) and allergies are both considered to be related to imbalanced Th1 and Th2 immune responses. Previous studies evaluating the relationship between MS and allergies provide conflicting results. OBJECTIVE: To assess allergies and asthma as risk factors for MS and as predictors of MS relapses in a pediatric cohort. METHODS: The environment and genetic risk factors for pediatric MS study is a national case-control project with 16 participating US sites...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319562/translating-biomarkers-from-research-to-clinical-use-in-pediatric-neurocritical-care-focus-on-traumatic-brain-injury-and-cardiac-arrest
#17
Andrew J Prout, Michael S Wolf, Ericka L Fink
PURPOSE OF REVIEW: Traumatic brain injury (TBI) and cardiac arrest are important causes of morbidity and mortality in children. Improved diagnosis and outcome prognostication using validated biomarkers could allow clinicians to better tailor therapies for optimal efficacy. RECENT FINDINGS: Contemporary investigation has yielded plentiful biomarker candidates of central nervous system (CNS) injury, including macromolecules, genetic, inflammatory, oxidative, and metabolic biomarkers...
March 17, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28319448/rationale-and-design-of-a-phase-1-clinical-trial-to-evaluate-hsv-g207-alone-or-with-a-single-radiation-dose-in-children-with-progressive-or-recurrent-malignant-supratentorial-brain-tumors
#18
Alicia M Waters, James M Johnston, Alyssa T Reddy, John Fiveash, Avi Madan-Swain, Kara Kachurak, Asim K Bag, G Yancey Gillespie, James M Markert, Gregory K Friedman
Primary central nervous system tumors are the most common solid neoplasm of childhood and the leading cause of cancer-related death in pediatric patients. Survival rates for children with malignant supratentorial brain tumors are poor despite aggressive treatment with combinations of surgery, radiation, and chemotherapy, and survivors often suffer from damaging lifelong sequelae from current therapies. Novel innovative treatments are greatly needed. One promising new approach is the use of a genetically engineered, conditionally replicating herpes simplex virus (HSV) that has shown tumor-specific tropism and potential efficacy in the treatment of malignant brain tumors...
March 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/28318500/mutations-in-tmem260-cause-a-pediatric-neurodevelopmental-cardiac-and-renal-syndrome
#19
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, Jason R Willer, Pavle Matak, Chaim Jalas, Ben Pode-Shakked, Yishay Salem, Yair Anikster, Friedhelm Hildebrandt, Nicholas Katsanis, Orly Elpeleg, Erica E Davis
Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identified homozygous truncating mutations in TMEM260, a locus predicted to encode numerous splice isoforms. Systematic expression analyses across tissues and developmental stages validated two such isoforms, which differ in the utilization of an internal exon...
March 11, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28315898/modifiable-risk-factors-and-interventions-for-childhood-obesity-prevention-within-the-first-1-000-days
#20
Anne M Dattilo
Worldwide, the prevalence of childhood obesity has increased, amounting to 42 million overweight or obese children, and there is increasing evidence that the origins are within the first 1,000 days: the period of conception through 2 years. Antecedents of early childhood obesity are multifactorial, and associations of varying strength have been documented for genetic/epigenetic, biologic, dietary, environmental, social, and behavioral influences. Modifiable factors in pregnancy and early infancy associated with childhood obesity include maternal overweight/obesity, maternal smoking, gestational weight gain, infant and young child feeding, caregiver responsive feeding practices, as well as sleep duration, and physical activity...
2017: Nestlé Nutrition Institute Workshop Series
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