Read by QxMD icon Read

Edward Syndrome or Trisomy 18 in children

Rajan R Murgai, Edward Compton, Akash R Patel, Deirdre Ryan, Robert M Kay
BACKGROUND: Although postoperative cast immobilization is routinely used in children, it is not without complications. Few studies have focused on interventions to decrease their frequency. The purpose of this study was to determine if foam padding in postoperative lower extremity casts decreased the rate of cast complications. METHODS: A retrospective review of patients who underwent lower extremity casting after elective surgery at a tertiary pediatric hospital from 2006 to 2013 was conducted...
September 2018: Journal of Pediatric Orthopedics
Ryan P Barbaro, Yuejia Xu, Santiago Borasino, Edward J Truemper, R Scott Watson, Ravi R Thiagarajan, David Wypij, Martha A Q Curley
RATIONALE: Extracorporeal membrane oxygenation (ECMO) has supported gas exchange in children with severe respiratory failure for more than 40 years, without ECMO efficacy studies. OBJECTIVES: To compare the mortality and functional status of children with severe acute respiratory failure supported with and without ECMO. METHODS: This cohort study compared ECMO-supported children to pair-matched non-ECMO-supported control subjects with severe acute respiratory distress syndrome (ARDS)...
May 1, 2018: American Journal of Respiratory and Critical Care Medicine
Irene T Ma, Melissa R Symon, Ruth E Bristol, Stephen P Beals, Edward F Joganic, P David Adelson, David H Shafron, Davinder J Singh
PURPOSE: Cranial defects in children have been repaired with various materials ranging from autologous bone to synthetic materials. There is little published literature on the outcomes of titanium mesh cranioplasty (TMC) in calvarial reconstruction in the pediatric population. This study evaluates a pediatric cohort who underwent calvarial defect reconstruction with titanium mesh and assesses the efficacy and outcomes of TMC. METHODS: An Institutional Review Board approved retrospective review of patients ≤18 years of age who underwent cranioplasty from 1999 to 2014 at 2 centers was performed...
January 2018: Journal of Craniofacial Surgery
Anne T Berg, Jason Coryell, Russell P Saneto, Zachary M Grinspan, John J Alexander, Mariana Kekis, Joseph E Sullivan, Elaine C Wirrell, Renée A Shellhaas, John R Mytinger, William D Gaillard, Eric H Kossoff, Ignacio Valencia, Kelly G Knupp, Courtney Wusthoff, Cynthia Keator, William B Dobyns, Nicole Ryan, Tobias Loddenkemper, Catherine J Chu, Edward J Novotny, Sookyong Koh
Importance: Early-life epilepsies are often a consequence of numerous neurodevelopmental disorders, most of which are proving to have genetic origins. The role of genetic testing in the initial evaluation of these epilepsies is not established. Objective: To provide a contemporary account of the patterns of use and diagnostic yield of genetic testing for early-life epilepsies. Design, Setting, and Participants: In this prospective cohort, children with newly diagnosed epilepsy with an onset at less than 3 years of age were recruited from March 1, 2012, to April 30, 2015, from 17 US pediatric hospitals and followed up for 1 year...
September 1, 2017: JAMA Pediatrics
Kalpana Manthiram, Hernan Correa, Kelli Boyd, Joseph Roland, Kathryn Edwards
The objective of this study is to compare the histology and immune cell composition of tonsils from patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome to those from patients with obstructive sleep apnea (OSA). Patients with PFAPA and age-matched controls with OSA who had undergone tonsillectomy at Vanderbilt Children's Hospital were recruited. After informed consent, archival paraffin-embedded, formalin-fixed tonsil tissues were obtained. Sizes of major histologic regions were measured...
May 2018: Clinical Rheumatology
Erica Brown, Jane Coad, Anita Franklin
It is estimated that rare diseases affect the lives of over three million people in the United Kingdom. Of these, a significant proportion are children and young people with genetic life-limiting or life-shortening conditions. This study used a qualitative approach with in-depth semi-structured interviews to explore the experiences of 10 adult siblings of a baby diagnosed with Trisomy 13 (Patau syndrome) or Trisomy 18 (Edward syndrome). Findings illustrate that parental grief from the time of their child's diagnosis onward is also experienced by siblings...
April 27, 2017: American Journal of Medical Genetics. Part A
Edward Malec, Christoph Schmidt, Anja Lehner, Katarzyna Januszewska
BACKGROUND: The Fontan operation has undergone several modifications and today is the primary way to treat a broad spectrum of congenital heart defects. AIM: The purpose of this study is to present the results of treatment of children with a single ventricle operated by the same surgical team and managed according to a uniform strategy. METHODS: In the years 2007-2015, in 248 children aged 3.7 ± 2.6 years and weighing 14.6 ± 6.1 kg with a single ventricle, Fontan surgery was performed...
2017: Kardiologia Polska
Adel G AlAkeely, Hind M Alkatan, Adel H Alsuhaibani, Hisham AlKhalidi, Leen Abu Safieh, Sarah E Coupland, Deepak P Edward
BACKGROUND/AIM: Our aim is to the report the clinical and histopathological features of benign reactive lymphoid hyperplasia (BRLH) of the conjunctiva in children and the outcomes of treatment. METHODS: A retrospective chart review was performed for children aged 0-18 years, diagnosed with conjunctival BRLH from January 2000 to December 2013 at two large ophthalmology hospitals in the Middle East. Data were collected on patient demographics, features of the lesions, the site of the lesion, location, adnexal involvement, lymph nodes involvement, local spread, histopathology and molecular genetic studies of the cases (if available), outcomes of treatment and recurrence...
July 2017: British Journal of Ophthalmology
Daniel Satgé, Motoi Nishi, Nicolas Sirvent, Michel Vekemans
Constitutional trisomy 18 causes Edwards syndrome, which is characterized by intellectual disability and a particular set of malformations. Although this condition carries high mortality during prenatal and early postnatal life, some of the rare infants who survive the first months develop benign and malignant tumors. To determine the tumor profile associated with Edwards syndrome, we performed a systematic review of the literature. This review reveals a tumor profile differing from those of Down (trisomy 21) and Patau (trisomy 13) syndromes...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Adam P Jacobs, Akila Subramaniam, Ying Tang, Joseph B Philips, Joseph R Biggio, Rodney K Edwards, Nathaniel H Robin
We conducted a survey-based study of the opinions, attitudes, and management practices of neonatologists across the United States regarding prenatally diagnosed Trisomy 18. The survey was designed based on previously validated surveys of severe fetal anomalies and collected demographic information on participants, as well as their attitudes, and management choices given a series of vignettes beginning in the prenatal period. The survey was sent to 3,143 American Academy of Pediatrics Section on Neonatal-Perinatal Medicine members of which 409 (13%) completed the survey...
October 2016: American Journal of Medical Genetics. Part A
Alexander J Millman, Lyn Finelli, Anna M Bramley, Georgina Peacock, Derek J Williams, Sandra R Arnold, Carlos G Grijalva, Evan J Anderson, Jonathan A McCullers, Krow Ampofo, Andrew T Pavia, Kathryn M Edwards, Seema Jain
OBJECTIVE: To describe and compare the clinical characteristics, outcomes, and etiology of pneumonia among children hospitalized with community-acquired pneumonia (CAP) with neurologic disorders, non-neurologic underlying conditions, and no underlying conditions. STUDY DESIGN: Children <18 years old hospitalized with clinical and radiographic CAP were enrolled at 3 US children's hospitals. Neurologic disorders included cerebral palsy, developmental delay, Down syndrome, epilepsy, non-Down syndrome chromosomal abnormalities, and spinal cord abnormalities...
June 2016: Journal of Pediatrics
Jeffrey P Jacobs, Sean M O'Brien, Sara K Pasquali, J William Gaynor, John E Mayer, Tara Karamlou, Karl F Welke, Giovanni Filardo, Jane M Han, Sunghee Kim, James A Quintessenza, Christian Pizarro, Christo I Tchervenkov, Francois Lacour-Gayet, Constantine Mavroudis, Carl L Backer, Erle H Austin, Charles D Fraser, James S Tweddell, Richard A Jonas, Fred H Edwards, Frederick L Grover, Richard L Prager, David M Shahian, Marshall L Jacobs
BACKGROUND: The empirically derived 2014 Society of Thoracic Surgeons Congenital Heart Surgery Database Mortality Risk Model incorporates adjustment for procedure type and patient-specific factors. The purpose of this report is to describe this model and its application in the assessment of variation in outcomes across centers. METHODS: All index cardiac operations in The Society of Thoracic Surgeons Congenital Heart Surgery Database (January 1, 2010, to December 31, 2013) were eligible for inclusion...
September 2015: Annals of Thoracic Surgery
Albert Beckers, Maya Beth Lodish, Giampaolo Trivellin, Liliya Rostomyan, Misu Lee, Fabio R Faucz, Bo Yuan, Catherine S Choong, Jean-Hubert Caberg, Elisa Verrua, Luciana Ansaneli Naves, Tim D Cheetham, Jacques Young, Philippe A Lysy, Patrick Petrossians, Andrew Cotterill, Nalini Samir Shah, Daniel Metzger, Emilie Castermans, Maria Rosaria Ambrosio, Chiara Villa, Natalia Strebkova, Nadia Mazerkina, Stéphan Gaillard, Gustavo Barcelos Barra, Luis Augusto Casulari, Sebastian J Neggers, Roberto Salvatori, Marie-Lise Jaffrain-Rea, Margaret Zacharin, Beatriz Lecumberri Santamaria, Sabina Zacharieva, Ee Mun Lim, Giovanna Mantovani, Maria Chaira Zatelli, Michael T Collins, Jean-François Bonneville, Martha Quezado, Prashant Chittiboina, Edward H Oldfield, Vincent Bours, Pengfei Liu, Wouter W de Herder, Natalia Pellegata, James R Lupski, Adrian F Daly, Constantine A Stratakis
X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological, and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and microduplication of chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in two families was dominant, with all Xq26...
June 2015: Endocrine-related Cancer
Edward H Hurley, Sankaran Krishnan, Lance A Parton, Allen J Dozor
Differences in perspective between physicians caring for children with trisomy 18 may be confusing and stressful for parents. The hypothesis of this study was that neonatologists and pediatric pulmonologists differ in their opinions regarding long-term prognosis and recommended interventions. Neonatologists and pediatric pulmonologists in New York State were surveyed. Respondents were asked to report their personal experience caring for affected children, opinions on prognosis, major influences on their opinions, and their likelihood of recommending specific medical or surgical interventions for two clinical vignettes...
October 2014: American Journal of Medical Genetics. Part A
Jennifer N Kucera, Ian Coley, Sara O'Hara, Edward J Kosnik, Brian D Coley
BACKGROUND: Although spinal cord tethering is known to be associated with certain clinical syndromes and cutaneous stigmata, its incidence in healthy infants with simple sacral dimples has not been thoroughly evaluated. OBJECTIVE: Our objective was to determine the frequency of tethered cord in otherwise healthy patients with simple sacral dimples. MATERIALS AND METHODS: We reviewed the lumbar spine US reports of all healthy neonates referred for a simple sacral dimple during a 12-year period at two children's hospitals...
February 2015: Pediatric Radiology
Marta Moraleda-Cibrián, Mary Berger, Sean P Edwards, Steven J Kasten, Steven R Buchman, Louise M O'Brien
STUDY OBJECTIVE: Sleep-disordered breathing (SDB) and speech difficulties are common problems in children with craniofacial malformations (CFM). The present study was designed to investigate whether resonance issues identified during speech assessment are associated with parental report of SDB symptoms in children with CFM. METHODS: Children aged 2-18 years with congenital CFM attending at the Craniofacial Anomalies Program from March 2007 to April 2011 were screened for SDB symptoms using the Sleep-Related Breathing Disturbance Scale of the Pediatric Sleep Questionnaire...
June 15, 2014: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
Elena Ţarcă, Petru Plămădeală, Bogdan Savu
Trisomy 18 or Edwards syndrome is a rare chromosomal anomaly, associated with mild to severe intellectual disabilities and multiple congenital anomalies. Trisomies 18 and 13 are lethal, only 5-10% of patients surviving the first year of life. Although prenatal biological and ultrasound investigations are mandatory and free and the detection rate of chromosomal abnormalities is high, the birth of children with no real chance at a normal life being thus avoided by therapeutic abortion, the parents of the here presented child did not benefit from medical examination or prenatal tests, unfortunately the case of many families in Romania...
2014: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
Marta Moraleda-Cibrián, Sean P Edwards, Steven J Kasten, Mary Berger, Steven R Buchman, Louise M O'Brien
STUDY OBJECTIVE: The purpose of this study was to investigate the frequency of sleep disordered breathing (SDB) symptoms in a clinical sample of children with congenital craniofacial malformations (CFM) followed at a tertiary medical center and non-selected for sleep problems. METHODS: Cross-sectional study of 575 children aged 2-18 years followed at the Craniofacial Anomalies Program between March 2007 and May 2011. The Sleep-Related Breathing Disturbance scale of the Pediatric Sleep Questionnaire was used to screen for SDB, snoring, and sleepiness...
March 15, 2014: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
Jianhua Wu, Anna Springett, Joan K Morris
The aim of this study is to determine the survival of live births with trisomy 18 and trisomy 13 and their variants. Information on live births with trisomy 18 or trisomy 13 recorded in the National Down Syndrome Cytogenetic Register (NDSCR) was linked by the NHS Information Centre to obtain information about survival. Survival was known for 326 (88%) of live births with trisomy 18 and 142 (82%) of live births with trisomy 13 born in England and Wales between 2004 and 2011. The median survival time for live births with full trisomy 18 was 14 days and with full trisomy 13 was 10 days, the 3-month survival was 20% and 18%, respectively, and the 1-year survival for both syndromes was 8%...
October 2013: American Journal of Medical Genetics. Part A
Douglas F Willson, Neal J Thomas, Robert Tamburro, Edward Truemper, Jonathon Truwit, Mark Conaway, Christine Traul, Edmund E Egan
RATIONALE: Our previous studies in children with acute lung injury/acute respiratory distress syndrome demonstrated improved outcomes with exogenous surfactant (calfactant) administration. Sample sizes in those studies were small, however, and the subject populations heterogeneous, thus making recommendations tenuous. OBJECTIVE: To investigate the efficacy of surfactant administration in a larger, more homogenous population of children with lung injury/acute respiratory distress syndrome due to direct lung injury...
September 2013: Pediatric Critical Care Medicine
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"