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https://www.readbyqxmd.com/read/28911208/hdac6-deficiency-or-inhibition-blocks-fgfr3-accumulation-and-improves-bone-growth-in-a-model-of-achondroplasia
#1
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
#2
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...
September 12, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28895939/sleep-disorders-in-childhood-neurogenetic-disorders
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28878547/bilateral-simultaneous-total-hip-replacement-in-achondroplasia
#7
Deepak Gautam, Rajesh Malhotra
We present a case of bilateral simultaneous total hip replacement in a very short statured (height 112 cm) 45 years old male patient with Achondroplasia and disabling osteoarthritis of both the hips. We describe the difficulties encountered and provide a methodical approach for such cases.
August 2017: Journal of Clinical Orthopaedics and Trauma
https://www.readbyqxmd.com/read/28872565/sinus-pericranii-in-achondroplasia-a-case-report-and-review-of-the-literature
#8
Abbey A Scott, Katelyn D Hodge, Wilfredo Torres-Martinez, Stephen R Dlouhy, Jodi L Smith, David D Weaver
In the field of dysmorphology, achondroplasia is a well-known disorder. Sinus pericranii (SP), however, is not. The latter condition is a rare vascular malformation characterized by abnormal connections between the intracranial and the extracranial venous drainage pathways. The etiology of SP remains unclear, and yet, these defects can be present at birth, develop spontaneously later, or evolve following head trauma. Here, we report on a 2-year-old male with achondroplasia, SP, and craniocervical junction stenosis...
October 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28828058/arthroscopic-knee-anatomy-in-young-achondroplasia-patients
#9
M Del Pilar Duque Orozco, N C Record, K J Rogers, M B Bober, W G Mackenzie, A Atanda
PURPOSE: Achondroplasia is the most common form of skeletal dysplasia, affecting more than 250 000 individuals worldwide. In these patients, the developing knee undergoes multiple anatomical changes. The purpose of this study was to characterise the intra-articular knee anatomy in children with achondroplasia who underwent knee arthroscopy. METHODS: Records of achondroplasia patients who underwent knee arthroscopy between 2009 and 2014 were reviewed. Demographic data, operative reports, follow-up notes, MRI and arthroscopy images were reviewed...
June 1, 2017: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/28827054/reverse-shoulder-arthroplasty-in-young-patient-with-achondroplasia-ten-year-follow-up-case-report
#10
M van den Broek, O Verborgt, G Declercq
Skeletal dysplasia in achondroplasia can affect all body joints - including the glenohumeral joint - and is prone to develop to degenerative osteoarthritis (OA). This may cause pain and mobility problems at young age. Surgical treatment is challenging due to the dysplastic anatomy of the shoulder joint - with a dysplastic deformed short humerus, a small, hypoplastic medialized glenoid and lateralized acromion - and the long life expectancy of these patients. The indications for reverse shoulder arthroplasty (RSA) evolved during years with rotator cuff tears and rotator cuff arthropathy in combination with or without glenohumeral OA as the main indicator, with good short to mid-term results...
August 5, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28819680/quantitative-approach-to-the-posterior-cranial-fossa-and-craniocervical-junction-in-asymptomatic-children-with-achondroplasia
#11
Rosalinda Calandrelli, Marco Panfili, Gabriella D'Apolito, Giuseppe Zampino, Alessandro Pedicelli, Fabio Pilato, Cesare Colosimo
PURPOSE: We propose an magnetic resonance imaging (MRI)-based quantitative morphovolumetric approach to the posterior cranial fossa (PCF) and craniocervical junction (CCJ) changes in achondroplastic patients investigating possible associations with ventriculomegaly and medullary compression. METHODS: We analyzed MRI of 13 achondroplastic children not treated by surgery. 3D FSPGR T1-weighted images were used to analyze (1) PCF synchondroses; (2) PCF volume (PCFV), PCF brain volume (PCFBV), PCFV/PCFBV ratio, cerebellar volume, cerebrospinal fluid (CSF) spaces volume, and IV ventricle volume; (3) PCF (clivus, supraocciput, exocciput lengths, tentorial angle) and CCJ (AP and LL diameters of foramen magnum (FM)) morphometry; (4) measurements of FM and jugular foramina (JF) areas; and (5) supratentorial ventricular volume...
August 17, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28819598/two-staged-bilateral-femoral-alignment-osteotomy-with-concomitant-total-knee-arthroplasty-in-an-achondroplasia-patient-a-case-report
#12
Sebastian G Walter, Tobias Schwering, Stefan Preiss
INTRODUCTION: Achondroplasia is the most common form of dwarfism in humans and is orthopedically characterized by shortened extremities and an exaggerated lumbar lordosis. The surgical challenges are maintenance of axial alignment during limb lengthening as well as joint preservation and alignment restoration. CASE REPORT: We present a 46-year-old female suffering from achondroplasia with severe pain in both knees. Severe varus deformities of both femurs and degeneration of both knee joints became apparent on clinical and radiological examination...
March 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28808977/skeletal-dysplasias-what-every-bone-health-clinician-needs-to-know
#13
REVIEW
Sarah M Nikkel
PURPOSE OF REVIEW: This review highlights how skeletal dysplasias are diagnosed and how our understanding of some of these conditions has now translated to treatment options. RECENT FINDINGS: The use of multigene panels, using next-generation sequence technology, has improved our ability to quickly identify the genetic etiology, which can impact management. There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those with achondroplasia...
August 14, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28802681/activated-fgfr3-promotes-bone-formation-via-accelerating-endochondral-ossification-in-mouse-model-of-distraction-osteogenesis
#14
Yusuke Osawa, Masaki Matsushita, Sachi Hasegawa, Ryusaku Esaki, Masahito Fujio, Bisei Ohkawara, Naoki Ishiguro, Kinji Ohno, Hiroshi Kitoh
Achondroplasia (ACH) is one of the most common short-limbed skeletal dysplasias caused by gain-of-function mutations in the fibroblast growth factor receptors 3 (FGFR3) gene. Distraction osteogenesis (DO) is a treatment option for short stature in ACH in some countries. Although the patients with ACH usually show faster healing in DO, details of the newly formed bone have not been examined. We have developed a mouse model of DO and analyzed new bone regenerates of the transgenic mice with ACH (Fgfr3(ach) mice) histologically and morphologically...
August 10, 2017: Bone
https://www.readbyqxmd.com/read/28764260/significance-of-foetal-transcerebellar-diameter-in-foetal-biometry-a-pilot-study
#15
Ramireddy Harikiran Reddy, Kumar Prashanth, Mahale Ajit
INTRODUCTION: The most important parameter needed for appropriate management of pregnant women is accurate Gestational Age (GA). Routine sonographic estimation of GA by using Biparietal Diameter (BPD), Femur Length (FL), Abdominal Circumference (AC) and Head Circumference (HC) assumed important role in management of pregnancy. However, these parameters have limitations. BPD and HC are not reliable in case of moulding of foetal head in third trimester. Similarly, femur length is shortened in cases of achondroplasia...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28719547/growth-modulation-in-achondroplasia
#16
Philip K McClure, Eray Kilinc, John G Birch
INTRODUCTION: Achondroplasia is the most common skeletal dysplasia with a rate of nearly 1/10,000. The development of lower extremity deformity is well documented, and various modes of correction have been reported. There are no reports on the use of growth modulation to correct angular deformity in achondroplasia. METHODS: Medical Records from 1985 to 2015 were reviewed for the diagnosis of achondroplasia and growth modulation procedures. Patients who had been treated for angular deformity of the legs by growth modulation were identified...
September 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28702065/achondroplasia-with-multiple-supplemental-supernumerary-teeth-and-multiple-talon-cusps-a-rare-case-report
#17
Jayam Raviraj, Venkata Suman, Dirasantchu Suresh, K Kartik
Achondroplasia is the most common cause of dwarfism, which is inherited as an autosomal dominant disorder, caused by genetic mutation in fibroblast growth factor 3, leading to defective maturation of chondrocytes. It is known to be associated with various oral and dental manifestations such as delayed dental development, midfacial hypoplasia and constricted maxilla with a relatively large mandible, resulting in skeletal/dental Class III malocclusion, posterior crossbite, anterior reverse jet and anterior overbite...
May 2017: Dental Research Journal
https://www.readbyqxmd.com/read/28697878/current-insights-into-the-molecular-genetic-basis-of-dwarfism-in-livestock
#18
REVIEW
Iris J M Boegheim, Peter A J Leegwater, Hein A van Lith, Willem Back
Impairment of bone growth at a young age leads to dwarfism in adulthood. Dwarfism can be categorised as either proportionate, an overall size reduction without changes in body proportions, or disproportionate, a size reduction in one or more limbs, with changes in body proportions. Many forms of dwarfism are inherited and result from structural disruptions or disrupted signalling pathways. Hormonal disruptions are evident in Brooksville miniature Brahman cattle and Z-linked dwarfism in chickens, caused by mutations in GH1 and GHR...
June 2017: Veterinary Journal
https://www.readbyqxmd.com/read/28693116/long-term-follow-up-of-a-child-with-klinefelter-syndrome-and-achondroplasia-from-infancy-to-16-years
#19
Jessica D Arditi, Loretta Thomaidis, Helen Frysira, Artemis Doulgeraki, George P Chrousos, Christina Kanaka-Gantenbein
BACKGROUND: Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international literature. However, none of these cases has been longitudinally followed during the entire childhood...
June 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28679403/identification-and-in-silico-characterization-of-p-g380r-substitution-in-fgfr3-associated-with-achondroplasia-in-a-non-consanguineous-pakistani-family
#20
Muhammad Ajmal, Asif Mir, Muhammad Shoaib, Salman Akbar Malik, Muhammad Nasir
BACKGROUND: The dimerization efficiency of FGFR3 transmembrane domain plays a critical role in the formation of a normal skeleton through the negative regulation of bone development. Recently, gain-of-function mutations in the transmembrane domain of FGFR3 has been described associated with an aberrant negative regulation, leading to the development of achondroplasia-group disorders, including achondroplasia (ACH), hypochondroplasia (HCH) and thanatophoric dysplasia (TD). Here, we describe a non-consanguineous Pakistani family with achondroplasia to explain hereditary basis of the disease...
July 5, 2017: Diagnostic Pathology
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