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https://www.readbyqxmd.com/read/29652901/early-postnatal-soluble-fgfr3-therapy-prevents-the-atypical-development-of-obesity-in-achondroplasia
#1
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
#2
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
#3
Sumire Terasawa, Asuka Kato, Haruki Nishizawa, Takema Kato, Hikari Yoshizawa, Yoshiteru Noda, Jun Miyazaki, Mayuko Ito, Takao Sekiya, Takuma Fujii, Hiroki Kurahashi
Thanatophoric dysplasia (TD) and achondroplasia (ACH) are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because TD is a lethal disorder and ACH 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 TD and ACH. 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 TD or ACH 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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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...
February 9, 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
#10
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
#11
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
#12
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...
January 17, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29323153/skeletal-characterization-of-the-fgfr3-mouse-model-of-achondroplasia-using-micro-ct-and-mri-volumetric-imaging
#13
Mohammed Salman Shazeeb, Megan K Cox, Anurag Gupta, Wen Tang, Kuldeep Singh, Cynthia T Pryce, Robert Fogle, Ying Mu, William D Weber, Dinesh S Bangari, Xiaoyou Ying, Yves Sabbagh
Achondroplasia, the most common form of dwarfism, affects more than a quarter million people worldwide and remains an unmet medical need. Achondroplasia is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene which results in over-activation of the receptor, interfering with normal skeletal development leading to disproportional short stature. Multiple mouse models have been generated to study achondroplasia. The characterization of these preclinical models has been primarily done with 2D measurements...
January 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29245270/spondylectomy-and-lateral-lumbar-interbody-fusion-for-thoracolumbar-kyphosis-in-an-adult-with-achondroplasia-a-case-report
#14
Masashi Miyazaki, Shozo Kanezaki, Naoki Notani, Toshinobu Ishihara, Hiroshi Tsumura
RATIONALE: Fixed thoracolumbar kyphosis with spinal stenosis in adult patients with achondroplasia presents a challenging issue. We describe the first case in which spondylectomy and minimally invasive lateral access interbody arthrodesis were used for the treatment of fixed severe thoracolumbar kyphosis and lumbar spinal canal stenosis in an adult with achondroplasia. PATIENT CONCERNS: A 61-year-old man with a history of achondroplastic dwarfism presented with low back pain and radiculopathy and neurogenic claudication...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29242050/mutant-fgfr3-associated-with-saddan-disease-causes-cytoskeleton-disorganization-through-plc%C3%AE-1-src-mediated-paxillin-hyperphosphorylation
#15
R Montone, M G Romanelli, A Baruzzi, F Ferrarini, E Liboi, P M-J Lievens
K650M/E substitutions in the Fibroblast growth factor receptor 3 (FGFR3) are associated with Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN) and Thanatophoric Dysplasia type II (TDII), respectively. Both SADDAN and TDII present with affected endochondral ossification marked by impaired chondrocyte functions and growth plate disorganization. In vitro, K650M/E substitutions confer FGFR3 constitutive kinase activity leading to impaired biosynthesis and accumulation of immature receptors in endoplasmic reticulum (ER)/Golgi...
February 2018: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/29217808/spectrum-of-disproportionate-short-stature-at-a-tertiary-care-center-in-northern-india
#16
Ankur Singh, Gaurav Pradhan, Rajniti Prasad, Om Prakash Mishra, Seema Kapoor
Forty cases with disproportionate short stature (median age 3.1 y; 24 males) from genetic clinic of Lok Nayak Hospital, Delhi were assessed in this study. Achondroplasia was the commonest (n=9) skeletal dysplasia; conclusive diagnosis was not possible in six children. Molecular confirmation of clinicoradiological phenotype was done in 18 of 40 cases. Genetic study of all achondroplasia cases revealed c. 1138 G>A, p. Gly380Arg mutation in hot spot.
November 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/29185944/achondroplasia-etiology-clinical-presentation-and-management
#17
Allyson Daugherty
By using a literature review, this article examines the implications of achondroplasia. The following areas are discussed: the clinical definition of the disease; the incidence, etiology, and pathogenesis; phenotypical characteristics and natural history of the disease; and management, recurrence risk, and genetic counseling. Lastly, implications for nursing in relation to achondroplasia are discussed.
November 1, 2017: Neonatal Network: NN
https://www.readbyqxmd.com/read/29170271/temporal-lobe-malformations-in-achondroplasia-expanding-the-brain-imaging-phenotype-associated-with-fgfr3-related-skeletal-dysplasias
#18
S A Manikkam, K Chetcuti, K B Howell, R Savarirayan, A M Fink, S A Mandelstam
Thanatophoric dysplasia, achondroplasia, and hypochondroplasia belong to the fibroblast growth factor receptor 3 ( FGFR3 ) group of genetic skeletal disorders. Temporal lobe abnormalities have been documented in thanatophoric dysplasia and hypochondroplasia, and in 1 case of achondroplasia. We retrospectively identified 13 children with achondroplasia who underwent MR imaging of the brain between 2002 and 2015. All children demonstrated a deep transverse temporal sulcus on MR imaging. Further common neuroimaging findings were incomplete hippocampal rotation (12 children), oversulcation of the mesial temporal lobe (11 children), loss of gray-white matter differentiation of the mesial temporal lobe (5 children), and a triangular shape of the temporal horn (6 children)...
February 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29146686/specific-force-of-the-vastus-lateralis-in-adults-with-achondroplasia
#19
David Thomas Sims, Gladys L Onambele-Pearson, Adrian Burden, Carl Payton, Christopher I Morse
Achondroplasia is a clinical condition defined by shorter stature and disproportionate limb length. Force production in able-bodied individuals (controls) is proportional to muscle size, but given the disproportionate nature of Achondroplasia, normalising to anatomical cross sectional area (ACSA) is inappropriate. The aim of this study was to assess specific force of the vastus lateralis (VL) in 10 adults with Achondroplasia (22 ±3 yrs) and 18 gender matched controls (22 ±2 yrs). Isometric torque (iMVCτ) of the dominant knee extensors (KE) and in vivo measures of VL muscle architecture, volume, activation and patella tendon moment arm were used to calculate VL physiological CSA (PCSA), fascicle force and specific force in both groups...
November 16, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/29108917/subcranial-and-orthognathic-surgery-for-obstructive-sleep-apnea-in-achondroplasia
#20
Srinivas M Susarla, Gerhard S Mundinger, Hitesh Kapadia, Mark Fisher, James Smartt, Christopher Derderian, Amir Dorafshar, Richard A Hopper
PURPOSE: Obstructive sleep apnea (OSA) is a common problem in patients with achondroplasia. The purpose of this study was to assess changes in airway volumes following various degrees of facial skeletal advancement. METHODS: This was a retrospective evaluation of patients with achondroplasia who underwent facial skeletal advancement for obstructive sleep apnea. Patients were treated with either an isolated Le Fort III distraction (LF3) or Le Fort II distraction with or without subsequent Le Fort I and bilateral sagittal split osteotomies (LF2 ± LF1/BSSO)...
December 2017: Journal of Cranio-maxillo-facial Surgery
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