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Achondroplasia

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Lumbar spinal stenosis and disc alterations affect the upper lumbar spine in adults with achondroplasia.

Thomas Huet, Martine Cohen-Solal, Jean-Denis Laredo, Corinne Collet, Geneviève Baujat, Valérie Cormier-Daire, Alain Yelnik, Philippe Orcel, Johann Beaudreuil,

In achondroplasia, lumbar spinal stenosis arises from congenital dysplasia and acquired degenerative changes. We here aimed to describe the changes of the lumbar spinal canal and intervertebral disc in adults. We included 18 adults (age ≥ 18 years) with achondroplasia and lumbar spinal stenosis. Radiographs were used to analyze spinal-pelvic ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):4699]

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New developments in the management of achondroplasia.

Wolfgang Högler, Leanne M Ward,

Achondroplasia is the most common form of disproportionate short stature. A dominantly inherited FGFR3 mutation permanently activates the fibroblast growth factor receptor 3 (FGFR3) and its downstream mitogen-activated protein kinase (MAPK) signalling pathway. This inhibits chondrocyte differentiation and puts a break on growth plate function, in addition to causing serious medical complications such ... Read more >>

Wien Med Wochenschr (Wiener medizinische Wochenschrift (1946))
[2020, 170(5-6):104-111]

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Trevor's disease of the distal radioulnar joint in two children with achondroplasia.

John M Kopriva, Kyle J Miller, Janet M Legare, Kenneth J Noonan,

Two children with achondroplasia who developed an abnormal bony outgrowth at the distal radioulnar joint (DRUJ), indistinguishable from an osteochondroma on histology, but the radiographic appearance, location, and asymmetry suggested the rare diagnosis of dysplasia epiphysealis hemimelica (DEH or "Trevor's disease"). One child experienced symptomatic relief with surgical excision and ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Identifying therapeutic drug targets for rare and common forms of short stature

Karol Estrada, Steven Froelich, Arthur Wuster, Christopher Bauer, Teague Sterling, Wyatt Clark, Yuanbin Ru, Marena Trinidad, Hong Phuc Nguyen, Amanda Luu, Daniel Wendt, Gouri Yogalingam, Guoying Karen Yu, Jonathan LeBowitz, Lon Cardon,

Abstract While GWAS of common diseases has delivered thousands of novel genetic findings, prioritizing genes for translation to therapeutics has been challenging. Here, we propose an approach to resolve that issue by identifying genes that have both gain of function (GoF) and loss of function (LoF) mutations associated with opposing ... Read more >>

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Limb lengthening history, evolution, complications and current concepts.

Gamal A Hosny,

Limb lengthening continues to be a real challenge to both the patient and the orthopaedic surgeon. Although it is not a difficult operative problem, there is a long and exhausting postoperative commitment which can jeopardize early good results. I aim to review the history, evolution, biology, complications and current concepts ... Read more >>

J Orthop Traumatol (Journal of orthopaedics and traumatology : official journal of the Italian Society of Orthopaedics and Traumatology)
[2020, 21(1):3]

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New perspectives on the treatment of skeletal dysplasia.

Pauline Marzin, Valérie Cormier-Daire,

The last few decades have been marked by the identification of numerous genes implicated in genetic disorders, helping in the elucidation of the underlying pathophysiology of these conditions. This has allowed new therapeutic approaches to emerge such as cellular therapy, gene therapy, or pharmacological therapy for various conditions. Skeletal dysplasias ... Read more >>

Ther Adv Endocrinol Metab (Therapeutic advances in endocrinology and metabolism)
[2020, 11:2042018820904016]

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Staged upper and lower limb lengthening performing bilateral simultaneous surgery of the femur and tibia in achondroplastic patients.

Antonio Leiva-Gea, Francisco Borja Delgado-Rufino, Alfonso Queipo-de-Llano, Jorge Mariscal-Lara, Maximiano Lombardo-Torre, Felipe Luna-González,

INTRODUCTION:Surgical lengthening and angular correction of the limbs are an option for treating the orthopedic clinical manifestations in patients with achondroplasia. This study assesses a staged limb lengthening protocol, performing simultaneous bilateral lengthening of the femur and tibia (stage I [S1]), and humeral lengthening (stage II [S2]). MATERIALS AND METHODS:Twenty-one ... Read more >>

Arch Orthop Trauma Surg (Archives of orthopaedic and trauma surgery)
[2020, :]

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Update on methods to enhance growth.

Juanita K Hodax, Sara A DiVall,

PURPOSE OF REVIEW:To discuss treatments used to enhance growth in pediatric patients with short stature. RECENT FINDINGS:New data confirm the known efficacy of recombinant human growth hormone (rhGH) in growth hormone deficiency (GHD) and idiopathic short stature. The latest data from the Safety and Appropriateness of Growth hormone Treatment in ... Read more >>

Curr Opin Endocrinol Diabetes Obes (Current opinion in endocrinology, diabetes, and obesity)
[2020, 27(1):82-86]

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Health assessment of patients with achondroplasia, pseudoachondroplasia, and rickets based on 3D non-linear diagnostics.

Jian Zhang, Yanqin Lu, Yanzhou Wang, Tianyou Li, Chuanming Peng, Shie Zhang, Qingxia Gao, Wei Li, Chunshang Liu, Jinxiang Han,

The goal of this study was to analyze diminishment of the functional status of the skeleton, parts of organs, regions of the brain, connective tissues, and chondrocytes in patients with achondroplasia (ACH), pseudoachondroplasia (PSACH), and rickets. Three-dimensional non-linear scanning (3D-NLS) was used to analyze the functional status of patients with ... Read more >>

Intractable Rare Dis Res (Intractable & rare diseases research)
[2020, 9(1):35-39]

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Role of Signal Transduction Pathways and Transcription Factors in Cartilage and Joint Diseases.

Riko Nishimura, Kenji Hata, Yoshifumi Takahata, Tomohiko Murakami, Eriko Nakamura, Maki Ohkawa, Lerdluck Ruengsinpinya,

: Osteoarthritis and rheumatoid arthritis are common cartilage and joint diseases that globally affect more than 200 million and 20 million people, respectively. Several transcription factors have been implicated in the onset and progression of osteoarthritis, including Runx2, C/EBPβ, HIF2α, Sox4, and Sox11. Interleukin-1 β (IL-1β) leads to osteoarthritis through ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(4):]

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Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.

Tadashi Nagata, Masaki Matsushita, Kenichi Mishima, Yasunari Kamiya, Kohji Kato, Miho Toyama, Tomoo Ogi, Naoki Ishiguro, Hiroshi Kitoh,

BACKGROUND:Achondroplasia (ACH), the most common form of short-limbed skeletal dysplasia, is caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. More than 97% of patients result from a heterozygous p.G380R mutation in the FGFR3 gene. We present here a child who had two de novo variants ... Read more >>

Mol Genet Genomic Med (Molecular Genetics & Genomic Medicine)
[2020, 8(3):e1148]

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Clinical Practice Guidelines for Achondroplasia.

Takuo Kubota, Masanori Adachi, Taichi Kitaoka, Kosei Hasegawa, Yasuhisa Ohata, Makoto Fujiwara, Toshimi Michigami, Hiroshi Mochizuki, Keiichi Ozono,

Achondroplasia (ACH) is a skeletal dysplasia that presents with limb shortening, short stature, and characteristic facial configuration. ACH is caused by mutations of the FGFR3 gene, leading to constantly activated FGFR3 and activation of its downstream intracellular signaling pathway. This results in the suppression of chondrocyte differentiation and proliferation, which ... Read more >>

Clin Pediatr Endocrinol (Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology)
[2020, 29(1):25-42]

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Macrocerebellum in Achondroplasia: A Further CNS Manifestation of FGFR3 Mutations?

H M Pascoe, J Y-M Yang, J Chen, A M Fink, S Kumbla,

Achondroplasia is the result of a mutation in the fibroblast growth factor receptor 3 gene (FGFR3). Appearances suggestive of macrocerebellum have not been described in this patient group. We retrospectively reviewed MR imaging studies of the brain in 23 children with achondroplasia. A constellation of imaging findings that are recognized ... Read more >>

AJNR Am J Neuroradiol (AJNR. American journal of neuroradiology)
[2020, 41(2):338-342]

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Emergency front of neck access after a can't intubate can't oxygenate scenario in a patient with achondroplasia.

Adam G R Humble, Tom Phu, Kenneth Ryan,

Can J Anaesth (Canadian Journal of Anaesthesia)
[2020, :]

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Neurological Manifestations of Achondroplasia.

John B Bodensteiner,

PURPOSE OF REVIEW:This review is to delineate the neurological complications seen in patients with achondroplasia. RECENT FINDINGS:As the understanding of the genetics of this disorder has advanced, the possibility of targets for intervention which might modify the development and management of the neurological complications of this disease may be identified. ... Read more >>

Curr Neurol Neurosci Rep (Current neurology and neuroscience reports)
[2019, 19(12):105]

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Cranio-cervical junction malformation causing cord compression in infant with achondroplasia: a bigger picture.

S Caratella, M Tarazi, F T Tomalieh, G Spink, S U A Bukhari, I H Ahmad, M M Hussain,

Introduction: Achondroplasia is a genetic disorder known for short stature and skeletal abnormalities.Case Report: We present a case of narrowing of the foramen magnum from a large opisthion extending to the spinal canal.Conclusion: Foramen magnum stenosis and cervicomedullary stenosis are potentially life threatening neurological manifestations of achondroplasia. ... Read more >>

Br J Neurosurg (British journal of neurosurgery)
[2019, :1-3]

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Obesity in achondroplasia patients: from evidence to medical monitoring.

Celine Saint-Laurent, Laura Garde-Etayo, Elvire Gouze,

Achondroplasia is a rare genetic disease representing the most common form of short-limb dwarfism. It is characterized by bone growth abnormalities that are well characterized and by a strong predisposition to abdominal obesity for which causes are unknown. Despite having aroused interest at the end of the 20 h century, there ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2019, 14(1):253]

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Fetal magnetic resonance imaging of skeletal dysplasias.

Leah A Gilligan, Maria A Calvo-Garcia, K Nicole Weaver, Beth M Kline-Fath,

BACKGROUND:Fetal magnetic resonance imaging (MRI) is obtained for prenatal diagnosis and prognostication of skeletal dysplasias; however, related literature is limited. OBJECTIVE:The purpose of this study was to define the utility of fetal MRI for skeletal dysplasias and to report MRI findings associated with specific diagnoses. MATERIALS AND METHODS:This retrospective study ... Read more >>

Pediatr Radiol (Pediatric radiology)
[2020, 50(2):224-233]

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Is height important for quality of life in children with skeletal dysplasias?

Hortense Lorne, Christopher J Newman, Sheila Unger,

Skeletal dysplasias are a large and heterogeneous group of conditions that affect growth and development of the skeleton. As might be expected, short stature is a frequent manifestation of these disorders but other complications do occur with varying frequencies depending on specific diagnosis and age of the patient. With the ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(4):103816]

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Current status in therapeutic interventions of neonatal bone mineral metabolic disorders.

Amish Chinoy, M Zulf Mughal, Raja Padidela,

Neonatal care has significantly improved in the past decade with improved survival of preterm and sick neonates. Similarly, the field of bone and mineral disorders is continuing to accelerate with better understanding of pathophysiology and genetic basis of diseases, as well as availability of newer diagnostic and therapeutic modalities. In ... Read more >>

Semin Fetal Neonatal Med (Seminars in fetal & neonatal medicine)
[2020, 25(1):101075]

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Weight gain velocity in infants with achondroplasia.

Madeleine E Buratti, Jens Eickhoff, Peggy Modaff, Richard M Pauli, Janet M Legare,

There are virtually no data regarding appropriate oral intake in infants with dwarfing disorders such as achondroplasia, nor is there clear information regarding appropriate weight gain velocity in this population. Yet, these individuals are at increased risk for both early failure to thrive and, later in life, for obesity. Having ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(1):146-149]

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Paternal age is affected by genetic abnormalities, perinatal complications and mental health of the offspring.

Dominika Janeczko, Magdalena Hołowczuk, Anna Orzeł, Barbara Klatka, Andrzej Semczuk,

Infertility and fecundity problems concern 10-18% of partners in their reproductive years compromising around one million females and males in Poland. Research and analysis of factors that affect male fertility are limited, especially, regarding the age of the father and determining the age at which quality of semen decreases. Age ... Read more >>

Biomed Rep (Biomedical Reports)
[2020, 12(3):83-88]

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Editorial: Neonatal management of achondroplasia: one hospital's geosocial approach to improve patient outcomes.

Catherine Gooch, Nathaniel H Robin, Anna C E Hurst,

Curr. Opin. Pediatr. (Current opinion in pediatrics)
[2019, 31(6):691-693]

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Blood pressure in adults with short stature skeletal dysplasias.

Julie Hoover-Fong, Adekemi Yewande Alade, Michael Ain, Ivor Berkowitz, Michael Bober, Erin Carter, Jacqueline Hecht, Dan Hoerschemeyer, Debra Krakow, Gretchen MacCarrick, William G Mackenzie, Roberto Mendoza, Ericka Okenfuss, Deirdre Popplewell, Cathleen Raggio, Kerry Schulze, John McGready,

Hypertension, compounded by obesity, contributes to cardiovascular disease and mortality. Data describing hypertension prevalence in adults with short stature skeletal dysplasias are lacking, perhaps due to poor fit of typical adult blood pressure cuffs on rhizomelic or contracted upper extremities. Through health screening research, blood pressure was measured in short ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(1):150-161]

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Branding of subjects affected with genetic syndromes of severe short stature in developing countries.

Jaime Guevara-Aguirre, Carolina Guevara, Alexandra Guevara, Antonio Awd Gavilanes,

In Ecuador, a developing South American country, subjects affected with genetic syndromes of severe short stature are commonly referred to as dwarfs or midgets. Furthermore, and because in earlier studies some patients had evidenced mental retardation, such abnormality is assumed to exist in all affected subjects. Herein, we present two ... Read more >>

BMJ Case Rep (BMJ case reports)
[2020, 13(2):]

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