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https://www.readbyqxmd.com/read/29466240/growth-velocity-and-biological-variables-during-puberty-in-achondroplasia
#1
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...
February 21, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29434683/the-inhibitory-roles-of-ihh-downregulation-on-chondrocyte-growth-and-differentiation
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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...
December 11, 2017: 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
#10
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
#11
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
#12
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)...
November 23, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29146686/specific-force-of-the-vastus-lateralis-in-adults-with-achondroplasia
#13
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
#14
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)...
October 5, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29104492/pth-1-34-ameliorates-the-osteopenia-and-delayed-healing-of-stabilized-tibia-fracture-in-mice-with-achondroplasia-resulting-from-gain-of-function-mutation-of-fgfr3
#15
Hangang Chen, Xianding Sun, Liangjun Yin, Shuai Chen, Ying Zhu, Junlan Huang, Wanling Jiang, Bo Chen, Ruobin Zhang, Lin Chen, Mao Nie, Yangli Xie, Zhongliang Deng
Bone fracture healing is processed through multiple stages including the cartilaginous callus formation and its transition to bony callus. FGFR3 negatively regulates chondrogenesis and enhances osteogenesis during skeleton development. We previously found in mice carrying gain-of-function mutation of FGFR3 that FGFR3 delays the healing of un-stabilized fracture that heals mainly through endochondral ossification. Since fracture is regularly treated in clinics with rigid fixation, and stabilized fracture is healed largely through intramembranous ossification, we asked whether FGFR3, a key regulator of osteogenesis, also affect the regeneration of stabilized fracture...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/29079071/occult-spinal-cord-injury-after-blunt-force-trauma-in-a-patient-with-achondroplasia-a-case-report-and-review-of-trauma-management-strategy
#16
Martin Huecker, Zach Harris, Eric Yazel
BACKGROUND: Achondroplastic dwarfism is associated with anatomic abnormalities that can predispose to occult injury and challenges in trauma management. Airway anatomy is problematic due to macrocephaly, midface hypoplasia, and a narrow nasopharynx. Manipulation of the neck is very dangerous due to the high likelihood of preexisting cervicomedullary stenosis. Restrictive lung disease and obstructive sleep apnea may complicate respiratory status. Peripheral and central venous access can be difficult to obtain...
October 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29070618/successful-obstetric-and-anaesthetic-management-of-a-pregnant-woman-with-achondroplasia
#17
Rauf Melekoglu, Ebru Celik, Sevil Eraslan
Achondroplasia is the most prevalent form of dwarfism, and there is little evidence about the optimal management of pregnant women with achondroplasia. We presented a 25-year-old primigravid woman with achondroplasia who was followed up during the pregnancy period and performed elective caesarean section with combined spinal-epidural anaesthesia at the 38th week of gestation. Frequent obstetric follow-up visits and invasive prenatal diagnostic tests should be offered during the antenatal period due to the increased risk for obstetric complications, such as premature delivery and fetal anomalies...
October 25, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29068064/familial-acanthosis-nigricans-with-p-k650t-fgfr3-mutation
#18
Kensuke Fukuchi, Kazuki Tatsuno, Kayo Matsushita, Akiharu Kubo, Taisuke Ito, Yoshiki Tokura
Acanthosis nigricans (AN) is a pigmentary skin disorder, which may present in association with clinical disorders such as obesity and malignancy. Occasionally, this unique skin manifestation is seen in alliance with several skeletal disorders, such Crouzon syndrome, achondroplasia and hypochondroplasia (HCH). These orthopedic disorders are known to have genetic changes in FGFR3. Recently, AN was reported in HCH with p.K650T mutation in FGFR3, and to date, there are only three reports, comprising 18 cases, describing AN harboring this specific gene mutation...
October 25, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/29055384/the-central-nervous-system-pressure-histogram-in-hydrocephalus-and-hydromyelia
#19
H F Williams
This work makes proposals on the relationship between intracranial pressure (ICP) and hydrocephalus that changes over time with the evolution of the disease. This includes the cerebrospinal fluid (CSF) filling mechanism that leads to an increase in mode pressure if excess fluid volume exacerbates the obstructive process. Elevation in mode occurs because pressure in the central nervous system (CNS) represents a state of reduced flow, rather than an abnormality of volume. Diseases that cause elevated mode pressure by means of a primary edema can lead to hydrocephalus if there is sufficient time and obstruction to flow for the filling mechanism to act...
October 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/29040558/constitutively-active-fgfr3-disrupts-primary-cilium-length-and-ift20-trafficking-in-various-chondrocyte-models-of-achondroplasia
#20
Ludovic Martin, Nabil Kaci, Valentin Estibals, Nicolas Goudin, Meriem Garfa-Traore, Catherine Benoist-Lasselin, Emilie Dambroise, Laurence Legeai-Mallet
FGFR3 (fibroblast growth factor receptor 3) gain-of-function mutations cause dwarfisms, including achondroplasia (ACH) and thanatophoric dysplasia (TD). The constitutive activation of FGFR3 disrupts the normal process of skeletal growth. Bone-growth anomalies have been identified in skeletal ciliopathies, in which primary cilia (PC) function is disrupted. In human ACH and TD, the impact of FGFR3 mutations on PC in growth plate cartilage remains unknown. Here we showed that in chondrocytes from human (ACH, TD) and mouse Fgfr3Y367C/+ cartilage, the constitutively-active FGFR3 perturbed PC length and the sorting and trafficking of IFT20 to the PC...
October 4, 2017: Human Molecular Genetics
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