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achondroplasia

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https://www.readbyqxmd.com/read/29889784/role-of-targeted-next-generation-sequencing-in-the-etiological-work-up-of-congenitally-deaf-children
#1
An Boudewyns, Jenneke van den Ende, Manou Sommen, Wim Wuyts, Nils Peeters, Paul Van de Heyning, Guy Van Camp
OBJECTIVES: The purpose of this study is to report the results of a comprehensive etiological work-up for congenitally deaf children including targeted next generation sequencing. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS: Fifty children with congenital, bilateral profound hearing loss (HL) (>90 dBnHL). INTERVENTIONS: Etiological work-up included testing for pathogenic variants in GJB2, a phenotype driven genetic analysis, screening for congenital infections and imaging...
July 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29884976/acute-type-a-aortic-dissection-repair-in-an-octogenarian-with-achondroplasia-a-case-report
#2
Shuji Moriyama, Masahiko Hara, Yasushi Kaneko
BACKGROUND: Achondroplasia is an inherited disorder and the most common type of short-limbed dwarfism in human beings, affecting more than 250,000 individuals worldwide. To the best of our knowledge, no study has reported a correlation between achondroplasia and aortic dissection. Here, we report a rare case of acute type A aortic dissection repair in a patient with achondroplasia. CASE PRESENTATION: An 82-year-old Japanese female with achondroplasia was admitted to our hospital because of acute-onset severe chest pain migration to her back accompanied by numbness and pain in the right lower limb...
June 8, 2018: Surgical Case Reports
https://www.readbyqxmd.com/read/29878976/changes-in-the-range-of-motion-of-the-lower-limb-joints-during-extensive-tibial-lengthening-in-achondroplasia
#3
Izumi Kadono, Hiroshi Kitoh, Kenichi Mishima, Masaki Matsushita, Koji Sato, Masato Kako, Naoki Ishiguro
Increase in the magnitude of lengthening during the limb lengthening procedure involves a high risk of decreased range of motion (ROM) in adjacent joints. Even though patients with achondroplasia can tolerate a relatively larger amount of lengthening owing to its inherent soft-tissue laxity, they often exhibit significant joint contractures during extensive lengthening. In the present study, we evaluated temporal changes in the ROM of the hip, knee, and ankle joints throughout the treatment period in 12 limbs of six patients with achondroplasia who had undergone extensive tibial lengthening...
June 6, 2018: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/29872110/cervical-spinal-cord-compression-in-infants-with-achondroplasia-should-neuroimaging-be-routine
#4
Victoria R Sanders, Stephen H Sheldon, Joel Charrow
PURPOSE: To examine results of magnetic resonance imaging (MRI), polysomnograms (PSG), and patient outcomes in patients with achondroplasia in light of recent screening recommendations for infants with achondroplasia. METHODS: We reviewed medical records of 49 patients with achondroplasia followed at our institution between September 1997 and January 2017, including physical exams, MRIs, PSGs (when available), and surgical histories. Appropriate PSG data were available for 39 of these patients...
June 5, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29797092/pycnodysostosis-the-disease-of-henri-de-toulouse-lautrec
#5
REVIEW
Konstantinos Markatos, Andreas F Mavrogenis, Marianna Karamanou, Georgios Androutsos
Pycnodysostosis or Maroteaux-Lamy syndrome is a genotypic bone disorder, with autosomal recessive inheritance, individualized by Lamy and Maroteaux in 1962. It is characterized by diffuse condensation of the skeleton with thickening of the cortex and narrowing of the medullary cavity. This condensation is reminiscent of the one observed in Albers-Schönberg disease, which differs essentially in dysmorphism of the skull (no closure of fontanelles, gaping sutures, hypoplasia of the lower jaw with open mandibular angle) and extremities (hypoplasia or osteolysis of the phalanges)...
May 24, 2018: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/29789951/sleep-in-children-with-congenital-malformations-of-the-central-nervous-system
#6
REVIEW
Jacqueline F Yates, Matthew M Troester, David G Ingram
PURPOSE OF REVIEW: Congenital malformations of the central nervous system may be seen in isolation or in association with syndromes that have multiorgan involvement. Among the potential health challenges these children may face, sleep concerns are frequent and may include chronic insomnia, sleep-related breathing disorders, and circadian rhythm disorders. RECENT FINDINGS: In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome...
May 23, 2018: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/29720948/the-oxygen-consumption-and-metabolic-cost-of-walking-and-running-in-adults-with-achondroplasia
#7
David T Sims, Gladys L Onambélé-Pearson, Adrian Burden, Carl Payton, Christopher I Morse
The disproportionate body mass and leg length of Achondroplasic individuals may affect their net oxygen consumption ([Formula: see text]O2 ) and metabolic cost (C) when walking at running compared to those of average stature (controls). The aim of this study was to measure submaximal [Formula: see text]O2 and C during a range of set walking speeds (SWS; 0.56 - 1.94 m⋅s-1 , increment 0.28 m⋅s-1 ), set running speeds (SRS; 1.67 - 3.33 m⋅s-1 , increment 0.28 m⋅s-1 ) and a self-selected walking speed (SSW)...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29681095/further-delineation-of-achondroplasia-hypochondroplasia-complex-with-long-term-survival
#8
Ariadna González-Del Angel, Rocío Rius, Miguel A Alcántara-Ortigoza, Elaine Spector, Victoria Del Castillo, Luis Enrique Mata-García
Achondroplasia-hypochondroplasia (ACH-HCH) complex is caused by the presence of two different pathogenic variants in each allele of FGFR3 gene. Only four patients with confirmed molecular diagnoses have been reported to date, and the phenotype has not been fully defined. Here, we describe a Mexican patient with a confirmed molecular diagnosis of ACH-HCH complex. This patient exhibits intellectual disability, has a history of seizures, experienced multiple cardiorespiratory complications during early childhood, and required foramen magnum decompression...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29652901/early-postnatal-soluble-fgfr3-therapy-prevents-the-atypical-development-of-obesity-in-achondroplasia
#9
Celine Saint-Laurent, Stephanie Garcia, Vincent Sarrazy, Karine Dumas, Florence Authier, Sophie Sore, Albert Tran, Philippe Gual, Isabelle Gennero, Jean-Pierre Salles, Elvire Gouze
BACKGROUND: Achondroplasia is a rare genetic disease is characterized by abnormal bone development and early obesity. While the bone aspect of the disease has been thoroughly studied, early obesity affecting approximately 50% of them during childhood has been somewhat neglected. It nevertheless represents a major health problem in these patients, and is associated to life-threatening complications including increasing risk of cardiovascular pathologies. We have thus decided to study obesity in patients and to use the mouse model to evaluate if soluble FGFR3 therapy, an innovative treatment approach for achondroplasia, could also impact the development of this significant complication...
2018: PloS One
https://www.readbyqxmd.com/read/29593476/novel-and-recurrent-mutations-in-the-fgfr3-gene-and-double-heterozygosity-cases-in-a-cohort-of-brazilian-patients-with-skeletal-dysplasia
#10
Maria E S Gomes, Thatiane Y Kanazawa, Fernanda R Riba, Natálya G Pereira, Maria C C Zuma, Natana C Rabelo, Maria T Sanseverino, Dafne D G Horovitz, Juan C Llerena, Denise P Cavalcanti, Sayonara Gonzalez
Mutations in the fibroblast growth factor receptor 3 gene ( FGFR3 ) cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TDI/TDII). In this study, we performed a genetic study of 123 Brazilian patients with these phenotypes. Mutation hotspots of the FGFR3 gene were PCR amplified and sequenced. All cases had recurrent mutations related to ACH, HCH, TDI or TDII, except for 2 patients. One of them had a classical TDI phenotype but a typical ACH mutation (c.1138G>A) in combination with a novel c...
February 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29542187/multiplex-pcr-in-noninvasive-prenatal-diagnosis-for-fgfr3-related-disorders
#11
Sumire Terasawa, Asuka Kato, Haruki Nishizawa, Takema Kato, Hikari Yoshizawa, Yoshiteru Noda, Jun Miyazaki, Mayuko Ito, Takao Sekiya, Takuma Fujii, Hiroki Kurahashi
Thanatophoric dysplasia and achondroplasia are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because thanatophoric dysplasia is a lethal disorder and achondroplasia is non-lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell-free fetal DNA in the maternal circulation to distinguish thanatophoric dysplasia and achondroplasia. A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected thanatophoric dysplasia or achondroplasia fetus...
March 14, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29516753/piloting-and-psychometric-properties-of-a-patient-reported-outcome-instrument-for-young-people-with-achondroplasia-based-on-the-international-classification-of-functioning-disability-and-health-the-achondroplasia-personal-life-experience-scale-aples
#12
Janika Bloemeke, Rachel Sommer, Stefanie Witt, Michaela Dabs, Francisco Javier Badia, Monika Bullinger, Julia Quitmann
BACKGROUND: This study describes the psychometric testing of the Achondroplasia Personal Life Experience Scale (APLES): a new disease- and functioning-specific health-related quality of life instrument for young people with achondroplasia, which was developed based on the International Classification of Functioning-Children and Youth Version. METHOD: The qualitative analysis of focus group statements from German patients and parents using the International Classification of Functioning-Children and Youth Version yielded 59 items, which after cognitive debriefing were included in a pilot-test...
March 8, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29512530/-homeostasis-and-disorder-of-musculoskeletal-system-diagnosis-and-treatment-of-congenital-musculoskeletal-diseases
#13
Toshimi Michigami
Congenital skeletal dysplasias have been considered to be fundamentally untreatable diseases. However, molecular diagnosis by genetic testing has become more prevalent, and efforts are being made to develop novel therapies based on the pathogenesis. As treatments for osteogenesis imperfecta, in addition to anti-resorptive agents, neutralizing antibodies against sclerostin and transforming growth factor(TGF)-β and chemical chaperones can be beneficial. Enzyme replacement therapy using bone-targeting recombinant alkaline phosphatase has been recently developed to treat hypophosphatasia and has much improved the prognosis of the patients affected with severe forms of the disease...
2018: Clinical Calcium
https://www.readbyqxmd.com/read/29496218/trabecular-bone-microarchitecture-analysis-a-way-for-an-early-detection-of-genetic-dwarfism-case-study-of-a-dwarf-mother-s-offspring
#14
Antony Colombo, Menno Hoogland, Hélène Coqueugniot, Olivier Dutour, Andrea Waters-Rist
A 66 year-old woman with a disproportionate dwarfism and who bore seven children was discovered at the Middenbeemster archaeological site (The Netherlands). Three are perinates and show no macroscopic or radiological evidence for a FGFR3 mutation causing hypo-or achondroplasia. This mutation induces dysfunction of the growth cartilage, leading to abnormalities in the development of trabecular bone. Because the mutation is autosomal dominant, these perinates have a 50% risk of having been affected. This study determines whether trabecular bone microarchitecture (TBMA) analysis is useful for detecting genetic dwarfism...
March 2018: International Journal of Paleopathology
https://www.readbyqxmd.com/read/29466240/growth-velocity-and-biological-variables-during-puberty-in-achondroplasia
#15
Mariana Del Pino, Virginia Fano, Paula Adamo
BACKGROUND: Achondroplasia is the most common form of inherited disproportionate short stature. Cross-sectional design studies of height show that, during childhood, height standard deviation scores (SDS) declines steadily and reaches a mean adult height at -6.42 and -6.72 SDS. However, there is a lack of knowledge about longitudinal growth and biological variables during puberty for children with achondroplasia. Here we report the growth velocity and biological parameters during puberty in children with achondroplasia...
March 28, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29434683/the-inhibitory-roles-of-ihh-downregulation-on-chondrocyte-growth-and-differentiation
#16
Ang Deng, Hongqi Zhang, Minyu Hu, Shaohua Liu, Yuxiang Wang, Qile Gao, Chaofeng Guo
The proliferative rate of chondrocytes affects bone elongation. Chondrocyte hypertrophy is required for endochondral bone formation as chondrocytes secrete factors required for osteoblast differentiation and maturation. Previous studies have demonstrated that the Indian hedgehog (Ihh) signaling pathway is a key regulator of skeletal development and homeostasis. The aim of the present study was to investigate the function of Ihh in chondrocyte proliferation and differentiation, as well as the underlying mechanisms...
January 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29424094/leg-length-sitting-height-and-body-proportions-references-for-achondroplasia-new-tools-for-monitoring-growth
#17
Mariana Del Pino, Rosario Ramos Mejía, Virginia Fano
Achondroplasia is the most common form of inherited disproportionate short stature. We report leg length, sitting height, and body proportion curves for achondroplasia. Seven centile format of sitting height, leg length, sitting height/leg length ratio, sitting height/height ratio, and head circumference/height ratio were estimated by the LMS method. The Q-test was applied to assess the goodness of fit. For comparison, centiles of sitting height and leg length were graphed using Argentine national growth references for achondroplasia and non-achondroplasia populations...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29419717/the-efficacy-of-brace-treatment-for-thoracolumbar-kyphosis-in-patients-with-achondroplasia
#18
Leilei Xu, Yetian Li, Fei Sheng, Chao Xia, Yong Qiu, Zezhang Zhu
STUDY DESIGN: A retrospective study. OBJECTIVES: To evaluate the outcome of brace treatment in the correction of thoracolumbar kyphosis (TLK) for patients with achondroplasia and to determine the factors associated with bracing efficacy. SUMMARY OF BACKGROUND DATA: Brace treatment has been used to correct TLK in patients with achondroplasia. However, there was a paucity of knowledge concerning its effectiveness. METHODS: 33 achondroplasic patients treated by bracing were included in this study...
February 6, 2018: Spine
https://www.readbyqxmd.com/read/29380944/optimal-non-invasive-diagnosis-of-fetal-achondroplasia-combining-ultrasonography-and-circulating-cell-free-fetal-dna-analysis
#19
Alexandre J Vivanti, Jean-Marc Costa, Audrey Rosefort, Pascale Kleinfinger, Laurence Lohmann, Anne-Gael Cordier, Alexandra Benachi
OBJECTIVE: To assess the performance of non-invasive prenatal testing of achondroplasia using high-resolution melting (HRM) analysis. To propose an optimal diagnosis strategy combining ultrasound scan and cell-free fetal DNA (cffDNA) analysis. METHODS: Prospective multicenter study. CffDNA was extracted from maternal blood from women at risk for fetal achondroplasia (paternal achondroplasia, previous affected child or suspected rhizomelic shortening). The presence of one of the two main FGFR3 mutations was determined by HRM combined with confirmation by SNaPshot minisequencing...
January 30, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29360984/regulation-of-ciliary-function-by-fibroblast-growth-factor-signaling-identifies-fgfr3-related-disorders-achondroplasia-and-thanatophoric-dysplasia-as-ciliopathies
#20
Michaela Kunova Bosakova, Miroslav Varecha, Marek Hampl, Ivan Duran, Alexandru Nita, Marcela Buchtova, Hana Dosedelova, Radek Machat, Yangli Xie, Zhenhong Ni, Jorge H Martin, Lin Chen, Gert Jansen, Deborah Krakow, Pavel Krejci
Cilia project from almost every cell integrating extracellular cues with signaling pathways. Constitutive activation of FGFR3 signaling produces the skeletal disorders achondroplasia (ACH) and thanatophoric dysplasia (TD), but many of the molecular mechanisms underlying these phenotypes remain unresolved. Here, we report in vivo evidence for significantly shortened primary cilia in ACH and TD cartilage growth plates. Using in vivo and in vitro methodologies, our data demonstrate that transient versus sustained activation of FGF signaling correlated with different cilia consequences...
March 15, 2018: Human Molecular Genetics
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