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Skeletal dysplasia

Francesca Moore, Andreas Zenkl, Kevin Carpenter
No abstract text is available yet for this article.
February 2016: Pathology
Masaki Matsushita, Kenichi Mishima, Ryusaku Esaki, Naoki Ishiguro, Kinji Ohno, Hiroshi Kitoh
OBJECTIVE Achondroplasia (ACH) is the most common short-limbed skeletal dysplasia caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Foramen magnum stenosis (FMS) is one of the serious neurological complications in ACH. Through comprehensive drug screening, the authors identified that meclozine, an over-the-counter drug for motion sickness, inhibited activation of FGFR3 signaling. Oral administration of meclozine to the growing ACH mice promoted longitudinal bone growth, but it did not prevent FMS...
October 21, 2016: Journal of Neurosurgery. Pediatrics
Helena Florez, Pilar Peris, Núria Guañabens
Fibrous dysplasia is a skeletal disorder that is associated with a wide spectrum of clinical manifestations, including localized asymptomatic forms and extensive severe forms with severe bone deformities and endocrinological alterations, depending on age, location, extent and associated processes. Although the treatment of choice is based on bisphosphonates, the therapeutic efficacy of these agents in the control of disease activity remains uncertain. This article reviews the current data available on the treatment of this disease as well as the preliminary data on new therapeutic approaches...
October 17, 2016: Medicina Clínica
Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
September 16, 2016: Neuromuscular Disorders: NMD
Namita Chandra, Sanjay Kumar, Vaibhav Raj, Pawan Kumar Vishwakarma, Sheela Sinha, Ram Prakash Saha
BACKGROUND Jarcho-Levin syndrome, also known as spondylothoracic dysplasia and spondylocostal dysplasia, is characterized by varieties of vertebrae and rib anomalies. Jarcho-Levin syndrome is a clinical-radiological diagnosis with clinical evidence of short neck, short trunk, normal-sized limbs, or increased arm span, and vertebral and rib defects on the skeletal survey. CASE REPORT About 400 cases have been reported in world literature and 18 in our Indian literature. We report the case of a one-day-old female baby with a short trunk, short neck, low hairline, apparently long limbs, protuberant abdomen, mild midfacial dysmorphism, low-set ears, and a high-arched palate...
October 14, 2016: American Journal of Case Reports
Jennifer F Ha, Waseem Ostwani, Glenn Green
INTRODUCTION: With the advent of improved neonatal and pediatric intensive care management, tracheostomy is increasingly performed in children requiring prolonged ventilation. Even though tracheostomy is generally a safe procedure, there remains mortality and morbidity associated with it. OBJECTIVE: We report a rare complication of a tracheostomy tube resulting in extensive erosion and posterior tracheal false pouch secondary to a large tracheostomy tube and high positive end expiratory pressure in a 12-month-old infant...
November 2016: International Journal of Pediatric Otorhinolaryngology
Anaïs Fradet, Jamie Fitzgerald
The INPPL1 (inositol polyphosphate phosphatase-like 1) gene encodes the inositol phosphatase, SHIP2 (for src homology 2 domain-containing inositol phosphatase 2). SHIP2 functions to dephosphorylate, and negatively regulate, the lipid second messenger phosphatidylinositol (3,4,5)P3. SHIP2 has been well studied in the area of insulin resistance and obesity but has roles in cancer and other disorders. Recently, it was reported that mutations in INPPL1 cause opsismodysplasia, a rare, autosomal recessive severe skeletal dysplasia...
October 6, 2016: Journal of Human Genetics
Ainslie L K Derrick-Roberts, Kavita Panir, Carmen E Pyragius, Krystyna H Zarrinkalam, Gerald J Atkins, Sharon Byers
Severe, progressive skeletal dysplasia is a major symptom of multiple mucopolysaccharidoses (MPS) types. While a gene therapy approach initiated at birth has been shown to prevent the development of bone pathology in different animal models of MPS, the capacity to correct developed bone disease is unknown. In this study, ex vivo micro-computed tomography was used to demonstrate that bone mass and architecture of murine MPS VII L5 vertebrae were within the normal range at 1month of age but by 2months of age were significantly different to normal...
September 24, 2016: Molecular Genetics and Metabolism
Luis F Goncalves, Julie A Berger, Jacqueline K Macknis, Samuel T Bauer, David A Bloom
Grebe dysplasia is a rare skeletal dysplasia characterized by severe acromesomelic shortening of the long bones in a proximal to distal gradient of severity, with bones of the hands and feet more severely affected than those of the forearms and legs, which in turn are more severely affected than the humeri and femora. In addition, the bones of the lower extremities tend to be more severely affected than the bones of the upper extremities. Despite the severe skeletal deformities, the condition is not lethal and surviving individuals can have normal intelligence...
September 27, 2016: Pediatric Radiology
Bas C J Majoor, Natasha M Appelman-Dijkstra, M Fiocco, Michiel A J van de Sande, P D Sander Dijkstra, Neveen A T Hamdy
INTRODUCTION: McCune-Albright syndrome (MAS) is a rare bone disorder characterized by fibrous dysplasia (FD), endocrinopathies and café-au-lait patches. FD patients have been shown to respond favourably to treatment with bisphosphonates, but data are scarce in the more severe polyostotic form (PFD), including MAS, and factors determining treatment outcome are not known, particularly in the long-term. METHODS: We evaluated the biochemical (bone turnover markers; BTMs) and clinical (pain reduction) outcome of bisphosphonate therapy in eleven patients with MAS and 30 patients with PFD: median duration of treatment 6 years (range 2-25)...
September 20, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Josephina A N Meester, Geert Vandeweyer, Isabel Pintelon, Martin Lammens, Lana Van Hoorick, Simon De Belder, Kathryn Waitzman, Luciana Young, Larry W Markham, Julie Vogt, Julie Richer, Luc M Beauchesne, Sheila Unger, Andrea Superti-Furga, Milan Prsa, Rami Dhillon, Edwin Reyniers, Harry C Dietz, Wim Wuyts, Geert Mortier, Aline Verstraeten, Lut Van Laer, Bart L Loeys
PURPOSE: Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described. So far, the only known X-linked gene is FLNA, which is associated with the periventricular nodular heterotopia type of Ehlers-Danlos syndrome. However, mutations in this gene explain only a small number of X-linked TAAD families. METHODS: We performed targeted resequencing of 368 candidate genes in a cohort of 11 molecularly unexplained Marfan probands...
September 15, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Thao M Nguyen, Agnieszka Arthur, Sharon Paton, Sarah Hemming, Romana Panagopoulos, John Codrington, Carl R Walkley, Andrew C W Zannettino, Stan Gronthos
The EphB receptor tyrosine kinase family and their ephrinB ligands have been implicated as mediators of skeletal development and bone homeostasis in humans, where mutations in ephrinB1 contribute to frontonasal dysplasia and coronal craniosynostosis. In mouse models, ephrinB1 has been shown to be a critical factor mediating osteoblast function. The present study examined the functional importance of ephrinB1 during endochondral ossification using the Cre recombination system with targeted deletion of ephrinB1 (EfnB1(fl/fl)) in osteogenic progenitor cells, under the control of the osterix (Osx:Cre) promoter...
September 10, 2016: Bone
F Birsasteanu, D Costachescu
Maffucci syndrome (MS) is a very rare, non-hereditary dysplasia, manifested by multiple enchondromas and haemangiomas. Malignant transformation of these lesions is seen in up to 33% of the cases. There is also a very rare association with secondary musculoskeletal deformaties. We present a case of a patient with Maffucci syndrome and an associated chondrosarcoma of the scapula. Treatment consisted of surgical resection. Because of the low grade of the tumour (G1), additional treatment radiotherapy/chemotherapy), was not necessary...
October 20, 2015: West Indian Medical Journal
Marie Askenberger, Per-Mats Janarv, Throstur Finnbogason, Elizabeth A Arendt
BACKGROUND: The incidence of primary lateral patellar dislocation (LPD) in children aged 9 to 14 years is 0.6 to 1.2 per 1000. Causation is assumed to be multifactorial, including anatomic variants of the patellofemoral (PF) joint that result in a higher risk of LPD. No publication has compared the morphology of the PF joint and anatomic patellar instability risk factors (APIFs) in a primary LPD population versus controls, defining children by skeletal maturity. PURPOSE: To characterize the PF morphology and APIFs (trochlear dysplasia, abnormal lateral patellar tilt, elevated tibial tubercle-trochlear groove [TT-TG] distance, patella alta) through magnetic resonance imaging (MRI) measurements in skeletally immature children with and without a primary LPD and to identify (potential) distinctive differences between these 2 groups...
September 9, 2016: American Journal of Sports Medicine
Sara Benito-Sanz, Alberta Belinchon-Martínez, Miriam Aza-Carmona, Carolina de la Torre, Celine Huber, Isabel González-Casado, Judith L Ross, N Simon Thomas, Andrew R Zinn, Valerie Cormier-Daire, Karen E Heath
Short stature homeobox gene (SHOX) is located in the pseudoautosomal region 1 of the sex chromosomes. It encodes a transcription factor implicated in the skeletal growth. Point mutations, deletions or duplications of SHOX or its transcriptional regulatory elements are associated with two skeletal dysplasias, Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD), as well as in a small proportion of idiopathic short stature (ISS) individuals. We have identified a total of 15 partial SHOX deletions and 13 partial SHOX duplications in LWD, LMD and ISS patients referred for routine SHOX diagnostics during a 10 year period (2004-2014)...
September 8, 2016: Journal of Human Genetics
Yu-Gang Wang, Xiu-Guo Han, Ying Yang, Han Qiao, Ke-Rong Dai, Qi-Ming Fan, Ting-Ting Tang
The endocrine role of the skeleton-which is impaired in human diseases including osteoporosis, obesity and diabetes-has been highlighted previously. In these diseases, the role of AMPK, a sensor and regulator of energy metabolism, is of biological and clinical importance. Since AMPK's main catalytic subunit α has two isoforms, it is unclear whether functional differences between them exist in the skeletal system. The current study overexpressed AMPKα1 and α2 in MC3T3-E1 cells, primary osteoblasts and mouse BMSCs by lentiviral transduction...
2016: Scientific Reports
Julia Vodopiutz, Shuji Mizumoto, Ekkehart Lausch, Antonio Rossi, Sheila Unger, Nikolaus Janocha, Rossella Costantini, Rainer Seidl, Susanne Greber-Platzer, Shuhei Yamada, Thomas Müller, Bernd Jilma, Rudolf Ganger, Andrea Superti-Furga, Shiro Ikegawa, Kazuyuki Sugahara, Andreas R Janecke
Mutations in genes encoding enzymes responsible for the biosynthesis and structural diversity of glycosaminoglycans cause a variety of disorders affecting bone and connective tissues, including Desbuquois dysplasia (DD). In an infant with prenatal-onset disproportionate short stature, joint laxity, and radiographic findings typical for DD compound-heterozygosity for a large intragenic deletion, and a p.Pro384Arg missense mutation in CSGALNACT1 was found. CSGALNACT1 encodes chondroitin sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1, ChGn-1), which initiates chondroitin sulfate (CS) chain biosynthesis on the so-called glycosaminoglycan (GAG)-protein linker region tetrasaccharide...
September 7, 2016: Human Mutation
Baris Gundogdu, Servet Yolbas, Ahmet Yildirim, Murat Gonen, Suleyman Serdar Koca
Ankylosing spondylitis (AS) is a systemic disease primarily characterized by the inflammation of sacroiliac joints and axial skeleton. Neurofibromatosis type 1 (NF1) is a multisystem genetic disease which is characterized by cutaneous findings, most importantly café-au-lait spots and axillary freckling, by skeletal dysplasia, and by the growth of both benign and malignant nervous system neoplasms, most notably benign neurofibromas. In this case report, we present a 43-year-old male with AS and NF1.
2016: Case Reports in Rheumatology
Sumit Singh, Curtis Qin, Srikanth Medarametla, Shilpa V Hegde
We report a 14-month-old male with craniometaphyseal dysplasia (CMD). The patient presented with a history of diminishing vision and hearing loss. Cranial computed tomography scan showed diffuse calvarial and skull base hyperostosis with excessive bone narrowing the internal auditory canals and skull base foramina. A subsequent skeletal survey revealed other skeletal abnormalities, which led to the diagnosis of CMD. This was later confirmed by ANKH mutation. CMD is a rare genetic disorder that belongs to the group of craniotubular bone dysplasias...
September 2016: Radiology case reports
Anne Bruun Krøigård, Morten Frost, Martin Jakob Larsen, Lilian Bomme Ousager, Anja Lisbeth Frederiksen
Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1), or Taybi-Linder syndrome is characterized by distinctive skeletal dysplasia, severe intrauterine and postnatal growth retardation, microcephaly, dysmorphic features, and neurological malformations. It is an autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the RNU4ATAC gene resulting in impaired function of the minor spliceosome. Here, we present the first report on bone morphology, bone density and bone microstructure in two adult MOPD1 patients and applied radiographs, dual energy X-ray absorptiometry, high-resolution peripheral quantitative computed tomography and biochemical evaluation...
November 2016: Bone
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