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achondroplasia

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https://www.readbyqxmd.com/read/29217808/spectrum-of-disproportionate-short-stature-at-a-tertiary-care-center-in-northern-india
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/29034653/successful-delivery-in-a-woman-with-achondroplasia-a-case-report
#12
Mahbooheh Shirazi, Fateme Golshahi, Nastaran Teimoory
Achondroplasia is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and macrocephaly. Women with achondroplasia suffer from infertility, menorrhagia, dysmenorrhoea, leiomyomata and early menopause. Our case was a 26-year-old woman with achondroplasia who had scoliosis and osteoporosis. She referred to our clinic at 9 weeks of gestation and had all screenings completely. She had a single female fetus with no abnormalities. She had an emergent due to rupture of membranes at 37 weeks and 3 days under general anesthesia...
August 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/29019756/imaging-of-skeletal-disorders-caused-by-fibroblast-growth-factor-receptor-gene-mutations
#13
Kiran M Sargar, Achint K Singh, Simon C Kao
Fibroblast growth factors and fibroblast growth factor receptors (FGFRs) play important roles in human axial and craniofacial skeletal development. FGFR1, FGFR2, and FGFR3 are crucial for both chondrogenesis and osteogenesis. Mutations in the genes encoding FGFRs, types 1-3, are responsible for various skeletal dysplasias and craniosynostosis syndromes. Many of these disorders are relatively common in the pediatric population, and diagnosis is often challenging. These skeletal disorders can be classified based on which FGFR is affected...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28947685/-growth-of-maxillo-facial-region-and-related-anomalies
#14
Naoto Suda
Since maxillo-facial region is quite complex, growth and developmental defect cause various anomalies. It is known that 70% of whole genetic disorders have any symptom or abnormal condition in maxilla-facial region. Cleft lip and/or palate is the most popular congenital anomaly and is seen in 0.2% of general population. Cases with Treacher Collins syndrome and Robin sequence are with respiratory problem due to the small mandible or mandibular retrusion. Achondroplasia is a genetic disease with short-limbed dwarfism due to abnormal proliferation or differentiation of chondrocytes...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/28911208/hdac6-deficiency-or-inhibition-blocks-fgfr3-accumulation-and-improves-bone-growth-in-a-model-of-achondroplasia
#15
Sara Ota, Zi-Qiang Zhou, Megan P Romero, Guang Yang, Peter J Hurlin
No abstract text is available yet for this article.
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28906337/a-three-dimensional-study-of-midfacial-changes-following-le-fort-ii-distraction-with-zygomatic-repositioning-in-syndromic-patients
#16
James M Smartt, Carey Campbell, Rami Hallac, Jake Alford, Christopher A Derderian
Le Fort II distraction with zygomatic repositioning introduced the ability to restore central midfacial height and convexity independent of changes in orbital morphology. This study analyzes midfacial and orbital morphology before and after Le Fort II distraction with zygomatic repositioning.All patients who underwent Le Fort II Distraction with zygomatic repositioning between 2013 and 2015 were included. Two- and 3-dimensional measurements were made using 3dMD Vultus software to assess canthal tilt, nasolabial angle, ratio of midfacial to lower facial height, and absolute change in nasal length...
November 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28895939/sleep-disorders-in-childhood-neurogenetic-disorders
#17
REVIEW
Laura Beth Mann Dosier, Bradley V Vaughn, Zheng Fan
enetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as "rare disease," but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, congenital central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne muscular dystrophy...
September 12, 2017: Children
https://www.readbyqxmd.com/read/28893057/coincidental-finding-of-twin-dentigerous-cyst-in-an-achondroplasia-patient
#18
Mammootty Imthy Keloth, Abdul Akbar, Laxmikanth Chatra, Vagish Kumar L Shanbhag, Prashanth Shenai
No abstract text is available yet for this article.
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28889181/humeral-lengthening-in-patients-with-achondroplasia-and-in-patients-with-post-septic-shortening-comparison-of-procedure-efficiency-and-safety
#19
Milud Shadi, Bartosz Musielak, Paweł Koczewski, Piotr Janusz
PURPOSE: Although humeral lengthening in patients with achondroplasia is an accepted procedure for improving functional status, there is still a paucity of information about the effectiveness of the method. Therefore, the aim of this study was to evaluate the efficacy and safety of humeral lengthening using monolateral fixators in patients with achondroplasia and unilateral shortening. METHODS: Twenty-one patients (31 humeri) were included in this study. The study group consisted of eight patients with achondroplasia (16 segments)...
September 9, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28888399/overlapping-genetic-pathways-in-the-skeletal-dysplasias-of-a-middle-woodland-individual-a-case-study
#20
Aviva A Cormier, Jane E Buikstra, Anna Osterholtz
Studies of interacting/overlapping genetic skeletal disorders are rare for populations today, but even more so for archaeological contexts. The skeletal remains of an adult female (EZ 3-7-1) were excavated in the 1980s from the Middle Woodland (50BC-AD400) context of the Elizabeth site (11PK512) in the lower Illinois Valley (LIV), USA. Reported here are the standard score (z-score) comparisons of the measured skeletal differences of EZ 3-7-1 with a reference sample and a re-analysis of the individual's pathological changes, with special consideration placed on refining the disease diagnosis...
September 2017: International Journal of Paleopathology
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