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https://www.readbyqxmd.com/read/27927547/prevalence-of-scoliosis-and-thoracolumbar-kyphosis-in-patients-with-achondroplasia
#1
Bilal I Khan, Mary T Yost, Haleh Badkoobehi, Michael C Ain
STUDY DESIGN: Retrospective chart review, case series. OBJECTIVES: To determine the prevalence of scoliosis and kyphosis in patients with achondroplasia. SUMMARY OF BACKGROUND DATA: There is little published research on the prevalence of scoliosis and thoracolumbar kyphosis in patients with achondroplasia. METHODS: The authors retrospectively reviewed charts of 459 patients with achondroplasia who were seen by the senior author, an orthopedic surgeon, from 1999 through 2013, at a tertiary referral center...
March 2016: Spine Deformity
https://www.readbyqxmd.com/read/27878857/selective-serotonin-reuptake-inhibitors-and-risk-of-major-congenital-anomalies-for-pregnancies-in-japan-a-nationwide-birth-cohort-study-of-the-japan-environment-and-children-s-study
#2
Hidekazu Nishigori, Taku Obara, Toshie Nishigori, Satoshi Mizuno, Hirohito Metoki, Tetsuro Hoshiai, Zen Watanabe, Kasumi Sakurai, Mami Ishikuro, Nozomi Tatsuta, Ichiko Nishijima, Ikuma Fujiwara, Shinichi Kuriyama, Takahiro Arima, Kunihiko Nakai, Nobuo Yaegashi
We analyzed data from the Japan Environment and Children's Study (JECS), on the association between selective serotonin reuptake inhibitors (SSRI) use during pregnancy and the risk of developing of major congenital anomalies in Japan. JECS is an ongoing nationwide birth cohort study. The study includes 95,994 single pregnant women and their offspring. Among them172 used any SSRI up to the 12(th) gestational week. Crude analyses show a significantly increased incidence of upper limb, abdominal, and urogenital anomalies...
November 23, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27866314/factors-associated-with-health-related-quality-of-life-hrqol-in-adults-with-short-stature-skeletal-dysplasias
#3
Nitasha Dhiman, Alia Albaghdadi, Cheryl K Zogg, Meesha Sharma, Julie E Hoover-Fong, Michael C Ain, Adil H Haider
INTRODUCTION: Numerous factors associate with health disparities. The extent to which such factors influence health-related quality of life (HRQOL) among adults with short stature skeletal dysplasias (SD) is unknown. In an effort to update and clarify knowledge about the HRQOL of adults with SD, this study aimed to quantify HRQOL scores relative to the American average and assess whether specific indicators are associated with lower scores. METHODS: Members (>18 years) of Little People of America were invited to complete an online survey assessing HRQOL using the SF-12 supplemented with indicator-specific questions...
November 19, 2016: Quality of Life Research
https://www.readbyqxmd.com/read/27851521/1886-invasive-ventilation-in-an-adult-with-achondroplasia-and-acute-respiratory-distress-syndrome
#4
Fraser Mackay, Talia Ben-Jacob, Robyn Roth
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27836589/a-novel-non-invasive-detection-method-for-the-fgfr3-gene-mutation-in-maternal-plasma-for-a-fetal-achondroplasia-diagnosis-based-on-signal-amplification-by-hemin-mofs-ptnps
#5
Jun Chen, Chao Yu, Yilin Zhao, Yazhen Niu, Lei Zhang, Yujie Yu, Jing Wu, Junlin He
The small amount of cell-free fetal DNA (cffDNA) can be a useful biomarker for early non-invasive prenatal diagnosis (NIPD) of achondroplasia. In this study, a novel non-invasive electrochemical DNA sensor for ultrasensitive detecting FGFR3 mutation gene, a pathogenic gene of achondroplasia, based on biocatalytic signal materials and the biotin-streptavidin system are presented. Notably encapsulation of hemin in metal-organic frameworks-based materials (hemin-MOFs) and platinum nanoparticles (PtNPs) were used to prepare hemin-MOFs/PtNPs composites via a one-beaker-one-step reduction...
November 1, 2016: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/27830579/sleep-disordered-breathing-in-children-with-achondroplasia
#6
REVIEW
Marco Zaffanello, Gaetano Cantalupo, Giorgio Piacentini, Emma Gasperi, Luana Nosetti, Paolo Cavarzere, Diego Alberto Ramaroli, Aliza Mittal, Franco Antoniazzi
BACKGROUND: Children with achondroplasia often have breathing problems, especially during sleep. The most important treatments are adenotonsillectomy (for treating upper obstruction) and/or neurosurgery (for resolving cervicomedullar junction stenosis). DATA SOURCES: We reviewed the scientific literature on polysomnographic investigations which assessed the severity of respiratory disorders during sleep. RESULTS: Recent findings have highlighted the importance of clinical investigations in patients with achondroplasia, differentiating between those that look for neurological patterns and those that look for respiratory problems during sleep...
November 3, 2016: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/27826910/humeral-lengthening-and-deformity-correction
#7
REVIEW
Gamal Ahmed Hosny
INTRODUCTION: Ilizarov principles and hybrid fixation have improved the results of humeral lengthening. We reviewed the literature on humeral lengthening using different fixators with regard to indications, operative technique, results and complications. We also retrospectively reviewed 56 segments in 46 patients treated with humeral lengthening and deformity correction using Ilizarov external fixation. The etiology was achondroplasia (10 patients), epiphyseal injury (8 cases), infection (11 cases) and Erb's palsy (17 cases)...
December 2016: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/27823711/central-sleep-apnea-in-children-experience-at-a-single-center
#8
Orlane Felix, Alessandro Amaddeo, Jorge Olmo Arroyo, Michel Zerah, Stephanie Puget, Valerie Cormier-Daire, Genevieve Baujat, Graziella Pinto, Marta Fernandez-Bolanos, Brigitte Fauroux
OBJECTIVE: Central sleep apnea (CSA) syndromes are rare in children and data in children over one year of age are scarce. The aim of the study was to describe the sleep characteristics, underlying disorders, management, and outcome of children with CSA. PATIENTS/METHODS: A retrospective chart review of all children >1 year of age, diagnosed with CSA on a laboratory sleep study during a 20-month period, was performed. CSA was defined by a central apnea index (CAI) >5 events/h...
September 2016: Sleep Medicine
https://www.readbyqxmd.com/read/27767902/maternal-administration-of-meclozine-for-the-treatment-of-foramen-magnum-stenosis-in-transgenic-mice-with-achondroplasia
#9
Masaki Matsushita, Kenichi Mishima, Ryusaku Esaki, Naoki Ishiguro, Kinji Ohno, Hiroshi Kitoh
OBJECTIVE Achondroplasia (ACH) is the most common short-limbed skeletal dysplasia caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Foramen magnum stenosis (FMS) is one of the serious neurological complications in ACH. Through comprehensive drug screening, the authors identified that meclozine, an over-the-counter drug for motion sickness, inhibited activation of FGFR3 signaling. Oral administration of meclozine to the growing ACH mice promoted longitudinal bone growth, but it did not prevent FMS...
October 21, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27753022/implementing-non-invasive-prenatal-diagnosis-nipd-in-a-national-health-service-laboratory-from-dominant-to-recessive-disorders
#10
Suzanne Drury, Sarah Mason, Fiona McKay, Kitty Lo, Christopher Boustred, Lucy Jenkins, Lyn S Chitty
Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27651125/identifying-spinal-cord-compression-in-achondroplasia-the-role-of-somatosensory-evoked-potentials-and-the-need-for-screening
#11
Dominic Thompson
No abstract text is available yet for this article.
September 21, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27636912/walking-out-of-the-curve-thoracolumbar-kyphosis-in-achondroplasia
#12
Adam Margalit, Greg McKean, Cheryl Lawing, Scott Galey, Michael C Ain
BACKGROUND: Thoracolumbar kyphosis (TLK) is common in infants with achondroplasia. Our goals were to examine the natural history of TLK and identify factors associated with persistent TLK. METHODS: We reviewed records of patients with achondroplasia seen by a board-certified orthopaedic surgeon at a tertiary care medical center between 1997 and 2013. Inclusion criteria were minimum 2-year follow-up and radiographs taken at time of presentation, within 6 months of walking age, and within 6 months of the first anniversary of walking age...
September 15, 2016: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/27636382/possible-achondroplastic-dwarf-skull-from-montevideo-uruguay
#13
Joseph T Hefner, Michael W Warren
Achondroplasia (chondrodystrophia) is an autosomal dominant inherited disorder affecting approximately 1 in 26,000 live births and is the most common cause of dwarfism in humans. Disproportionate short stature and a suite of craniofacial characteristics typify achondroplasia. The literature available for differential diagnosis of the disorder relies primarily on the postcranial skeleton. In this paper, a possible case of achondroplasia is presented. The cranium presents a unique suite of cranial and craniofacial dysmorphologies...
November 2016: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/27636099/an-icf-cy-based-approach-to-assessing-self-and-observer-reported-functioning-in-young-persons-with-achondroplasia-development-of-the-pilot-version-of-the-achondroplasia-personal-life-experience-scale-aples
#14
Rachel Sommer, Janika Blömeke, Michaela Dabs, Stefanie Witt, Monika Bullinger, Julia Quitmann
PURPOSE: Achondroplasia is the most common disproportionate short stature which impacts patients' well-being. Little is known about the burden of disease in terms of functioning of patients and few disease-specific patient-reported outcome (PRO) measures exist. To understand the consequences of achondroplasia, the objective of the study was to develop an achondroplasia-specific PRO tool. METHOD: Focus group discussions including 34 German patients (age 8-18 years) and 21 parents were conducted and qualitatively analyzed...
September 16, 2016: Disability and Rehabilitation
https://www.readbyqxmd.com/read/27633930/early-impairment-of-somatosensory-evoked-potentials-in-very-young-children-with-achondroplasia-with-foramen-magnum-stenosis
#15
Stefania Fornarino, Daniela Paola Rossi, Mariasavina Severino, Angela Pistorio, Anna Elsa Maria Allegri, Simona Martelli, Laura Doria Lamba, Paola Lanteri
AIM: To evaluate the contribution of somatosensory evoked potentials after median nerve (MN-SEPs) and posterior tibial nerve (PTN-SEPs) stimulation in functional assessment of cervical and lumbar spinal stenosis in children with achondroplasia. METHOD: We reviewed MN-SEPs, PTN-SEPs, and spinal magnetic resonance imaging (MRI) examinations performed in 58 patients with achondroplasia (25 males, 33 females; age range 21d-16y 10mo; mean age 4y 3mo [SD 4y 1mo]). Patients were subdivided into four age categories: <2 years, between 2 to 4 years, between 4 to 8 years, and ≥8 years...
September 16, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27627831/ocular-disorders-in-turkish-children-with-sensorineural-hear%C3%A4-ng-loss-a-cross-sectional-study-and-literature-review
#16
Pinar Altiaylik Ozer, Emrah Utku Kabatas, Gokce Tasdemir Ertugrul, Bengi Ece Kurtul, Umut Kaygusuz, Selmin Karatayli Ozgursoy
PURPOSE: To investigate types and frequencies of ocular disorders in children with sensorineural hearing loss (SNHL), and to emphasize the importance of ophthalmological examination in these children. METHODS: A retrospective analysis of the examination records of children examined in our instutititon between January 2011 and September 2014 was performed. Ocular disorders of children with SHNL were selectively reviewed. RESULTS: Among 55340 patients, SNHL was present in 110 (0...
September 14, 2016: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/27605694/bone-lengthening-in-the-pediatric-upper-extremity
#17
REVIEW
Sebastian Farr, Gabriel Mindler, Rudolf Ganger, Werner Girsch
➤Bone lengthening has been used successfully for several congenital and acquired conditions in the pediatric clavicle, humerus, radius, ulna, and phalanges.➤Common indications for bone lengthening include achondroplasia, radial longitudinal deficiency, multiple hereditary exostosis, brachymetacarpia, symbrachydactyly, and posttraumatic and postinfectious growth arrest.➤Most authors prefer distraction rates of <1 mm/day for each bone in the upper extremity except the humerus, which can safely be lengthened by 1 mm/day...
September 7, 2016: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/27605460/the-neuropsychological-function-of-children-with-achondroplasia
#18
Kimberley Wigg, Louise Tofts, Suzanne Benson, Melanie Porter
The current observational study had three specific objectives: (i) to document any neuropsychological impairment in a sample of children with achondroplasia; (ii) to explore individual variability; and (iii) to determine the functional impact of any impairments. Fourteen children aged between 6 and 15 years with a medically confirmed diagnosis of achondroplasia (FGFR 3 mutation positive) underwent a comprehensive standardized neuropsychological evaluation. On average, while generally still within normal limits, significantly lower scores compared to standardized means were identified on: Full-scale IQ, verbal IQ, working memory, arithmetic, attention, executive functioning and aspects of day-to-day emotional, social, and behavioral functioning...
November 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27554863/paleodysmorphology-and-paleoteratology-diagnosing-and-interpreting-congenital-conditions-of-the-skeleton-in-anthropological-contexts
#19
REVIEW
Roelof-Jan Oostra, Lucas Boer, Alie E van der Merwe
Most congenital conditions have low prevalence, but collectively they occur in a few percent of all live births. Congenital conditions are rarely encountered in anthropological studies, not least because many of them have no obvious effect on the skeleton. Here, we discuss two groups of congenital conditions that specifically affect the skeleton, either qualitatively or quantitatively. Skeletal dysplasias (osteochondrodysplasias) interfere with the histological formation, growth and maturation of skeletal tissues leading to diminished postural length, but the building plan of the body is unaffected...
October 2016: Clinical Anatomy
https://www.readbyqxmd.com/read/27531106/selective-mutation-accumulation-a-computational-model-of-the-paternal-age-effect
#20
Eoin C Whelan, Alexander C Nwala, Christopher Osgood, Stephan Olariu
MOTIVATION: As the mean age of parenthood grows, the effect of parental age on genetic disease and child health becomes ever more important. A number of autosomal dominant disorders show a dramatic paternal age effect due to selfish mutations: substitutions that grant spermatogonial stem cells a selective advantage in the testes of the father, but have a deleterious effect in offspring. In this paper we present a computational technique to model the spermatogonial stem cell niche in order to examine the phenomenon and draw conclusions across different genes and disorders...
August 16, 2016: Bioinformatics
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