15,065 results match your criteria Skeletal deformity


Genetic association and characterization of FSTL5 in isolated clubfoot.

Hum Mol Genet 2020 Oct 26. Epub 2020 Oct 26.

Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX, 75219, USA.

Talipes equinovarus (clubfoot, TEV) is a congenital rotational foot deformity occurring in 1 per 1000 births with increased prevalence in males compared to females. The genetic etiology of isolated clubfoot (iTEV) remains unclear. Using a genome-wide association study, we identified a locus within FSTL5, encoding follistatin-like 5, significantly associated with iTEV. Read More

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http://dx.doi.org/10.1093/hmg/ddaa236DOI Listing
October 2020

Surgical correction of rigid cervicothoracic deformity in a transgender patient: case report.

J Spine Surg 2020 Sep;6(3):620-625

Department of Orthopaedic Surgery, University of Michigan, Ann Arbor, MI, USA.

A number of spinal pathologies result in fusion of the spine, including ankylosing spondylitis, diffuse idiopathic skeletal hyperostosis (DISH), as well as severe degenerative arthropathies. This fusion of spinal elements may result in spinal deformity affecting any region of the spine. Cervicothoracic deformity resulting in chin on chest deformity is poorly tolerated due to inability to maintain a horizontal gaze. Read More

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http://dx.doi.org/10.21037/jss-20-584DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548821PMC
September 2020

Glenoid bony morphology of osteoarthritis prior to shoulder arthroplasty: what the surgeon wants to know and why.

Skeletal Radiol 2020 Oct 23. Epub 2020 Oct 23.

Department of Diagnostic Radiology and Nuclear Medicine, University of Maryland, School of Medicine, 22 S. Greene St, Baltimore, MD, 21201, USA.

Shoulder arthroplasty is performed with increasing frequency, and osteoarthritis is the most common indication for this procedure. However, the glenoid side of the joint is widely recognized as a limiting factor in the long-term durability of shoulder replacement, and osteoarthritis leads to characteristic bony changes at the glenoid which can exacerbate this challenge by reducing the already limited glenoid bone stock, by altering biomechanics, and by interfering with operative exposure. This article reviews the Walch classification system for glenoid morphology. Read More

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http://dx.doi.org/10.1007/s00256-020-03647-xDOI Listing
October 2020

Novel TRPV4 mutation in a large Chinese family with congenital distal spinal muscular atrophy, skeletal dysplasia and scaly skin.

J Neurol Sci 2020 Sep 23;419:117153. Epub 2020 Sep 23.

Department of Neurology, The First Hospital of China Medical University, Shenyang City, Liaoning Province, China. Electronic address:

Mutations in the transient receptor potential vanilloid 4 (TRPV4) gene, encoding a polymodal Ca permeable channel, have been associated with a spectrum of dominantly inherited skeletal dysplasias and neuropathies. The clinical manifestations of TRPV4-associated disorders are highly heterogeneous. This study describes a large Chinese family with a novel mutation in the TRPV4 gene. Read More

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http://dx.doi.org/10.1016/j.jns.2020.117153DOI Listing
September 2020

Failures of Endochondral Ossification in the Mucopolysaccharidoses.

Curr Osteoporos Rep 2020 Oct 16. Epub 2020 Oct 16.

Department of Orthopedic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Purpose Of Review: The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders characterized by abnormal accumulation of glycosaminoglycans (GAGs) in cells and tissues. MPS patients frequently exhibit failures of endochondral ossification during postnatal growth leading to skeletal deformity and short stature. In this review, we outline the current understanding of the cellular and molecular mechanisms underlying failures of endochondral ossification in MPS and discuss associated treatment challenges and opportunities. Read More

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http://dx.doi.org/10.1007/s11914-020-00626-yDOI Listing
October 2020

Multiple Developmental Defects in Mutant Zebrafish with Features of Coffin-Siris Syndrome.

Int J Biol Sci 2020 3;16(15):3039-3049. Epub 2020 Oct 3.

State Key Laboratory of Freshwater Ecology and Biotechnology, Institute of Hydrobiology, Chinese Academy of Sciences, Wuhan 430072, China.

A previous study suggested that human Coffin-Siris syndrome is related to the mutation of . Since the homozygous mutant mice died soon after birth, no suitable model was available for the study of the pathogenic mechanism of Coffin-Siris syndrome. To solve this problem, we generated two viable homozygous zebrafish mutants, and . Read More

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http://dx.doi.org/10.7150/ijbs.47510DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545714PMC
October 2020

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Am J Hum Genet 2020 Oct 14. Epub 2020 Oct 14.

Instituto de Investigaciones Biomédicas "Alberto Sols," Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, 28029, Spain; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, 28046, Spain; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability. Electronic address:

PRKACA and PRKACB code for two catalytic subunits (Cα and Cβ) of cAMP-dependent protein kinase (PKA), a pleiotropic holoenzyme that regulates numerous fundamental biological processes such as metabolism, development, memory, and immune response. We report seven unrelated individuals presenting with a multiple congenital malformation syndrome in whom we identified heterozygous germline or mosaic missense variants in PRKACA or PRKACB. Three affected individuals were found with the same PRKACA variant, and the other four had different PRKACB mutations. Read More

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http://dx.doi.org/10.1016/j.ajhg.2020.09.005DOI Listing
October 2020

Restocking of in Lake Fuxian, Southwest China: morphological and genetic effects.

Zool Res 2020 Oct 15:1-7. Epub 2020 Oct 15.

Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223, China. E-mail:

The restocking of the endangered Kanglang white minnow ( ) in Lake Fuxian, China, has been conducted for 13 years. However, few studies have reported on the effectiveness of the captive breeding and release of this species. Here, we investigated variations in morphology, including body shape and skeletal deformities, and genetic features among hatchery-born and recaptured . Read More

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http://dx.doi.org/10.24272/j.issn.2095-8137.2020.064DOI Listing
October 2020

Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants.

Orphanet J Rare Dis 2020 Oct 14;15(1):288. Epub 2020 Oct 14.

Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, No. 1 Shuaifuyuan, Beijing, 100730, China.

Background: Isolated macrodactyly is a severe congenital hand anomaly with functional and physiological impact. Known causative genes include PIK3CA, AKT1 and PTEN. The aim of this study is to gain insights into the genetics basis of isolated macrodactyly. Read More

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http://dx.doi.org/10.1186/s13023-020-01572-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7556951PMC
October 2020

Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models.

J Dev Biol 2020 Oct 9;8(4). Epub 2020 Oct 9.

Department of Biologic and Materials Sciences & Prosthodontics, School of Dentistry, University of Michigan, Ann Arbor, MI 48109-1078, USA.

Ellis-van Creveld syndrome (EVC; MIM ID #225500) is a rare congenital disease with an occurrence of 1 in 60,000. It is characterized by remarkable skeletal dysplasia, such as short limbs, ribs and polydactyly, and orofacial anomalies. With two of three patients first noted as being offspring of consanguineous marriage, this autosomal recessive disease results from mutations in one of two causative genes: or . Read More

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http://dx.doi.org/10.3390/jdb8040025DOI Listing
October 2020

Transarticular elastic external skeletal fixator correction of a stifle rotational deformity and patellar luxation in a dog.

Vet Surg 2020 Oct 13. Epub 2020 Oct 13.

Department of Surgical Sciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, Wisconsin.

Objective: To report the preoperative evaluation, treatment with transarticular elastic external skeletal fixation (ESF), and outcome of a dog with bilateral medial patellar luxation (MPL) and stifle rotational deformity.

Animal: One nonambulatory, 2.5-month-old, 7. Read More

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http://dx.doi.org/10.1111/vsu.13524DOI Listing
October 2020

Radiologic Evaluation of the Influence of Cleft Treatment on Nasal Dorsum Growth.

Cleft Palate Craniofac J 2020 Oct 12:1055665620962693. Epub 2020 Oct 12.

State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Dept. of Oral Maxillofacial Surgery, West China School of Stomatology, Sichuan University, Chengdu, China.

Objective: The study addresses whether the growth of the nasal dorsum is disturbed by cleft treatments, for cleft lip only (CL) and cleft lip with cleft palate (CLP).

Design: A total of 576 patients with cleft (278 CL, 298 CLP) and 333 individuals without orofacial clefts were retrospectively enrolled. Cleft lip only group was treated with a modified Millard technique combined with Tajima incision for rhinoplasty at 3 to 6 months. Read More

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http://dx.doi.org/10.1177/1055665620962693DOI Listing
October 2020

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

Am J Med Genet A 2020 Oct 11. Epub 2020 Oct 11.

Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant condition caused by heterozygous loss of function variants in the KMT2A (MLL) gene, encoding a lysine N-methyltransferase that mediates a histone methylation pattern specific for epigenetic transcriptional activation. WDSTS is characterized by a distinctive facial phenotype, hypertrichosis, short stature, developmental delay, intellectual disability, congenital malformations, and skeletal anomalies. Recently, a few patients have been reported having abnormal skeletal development of the cervical spine. Read More

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http://dx.doi.org/10.1002/ajmg.a.61859DOI Listing
October 2020

[The Pierre Marie-Sainton syndrome or cleidocranial dysplasia].

Authors:
J Lerusse J F Kaux

Rev Med Liege 2020 Oct;75(10):639-643

Service de Médecine physique et Réadaptation, CHU Liège, Belgique.

The Pierre-Marie Sainton syndrome or cleidocranial dysplasia is a rare congenital malformation due to a mutation in the RUNX2 gene, causing disruption in osteoblastic maturation, which results in various skeletal, dental and endocrine abnormalities. These various disorders may also have otorhinolaryngology and psychological consequences. We report the case of a patient with this rare birth defect. Read More

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October 2020

Factors Associated With Distal Femoral Osteotomy Survivorship: Data From the California Office of Statewide Health Planning and Development (OSHPD) Registry.

Orthop J Sports Med 2020 Sep 25;8(9):2325967120951554. Epub 2020 Sep 25.

USC Epstein Family Center for Sports Medicine, Keck Medicine of USC, Los Angeles, California, USA.

Background: Malalignment of the lower extremity can lead to early functional impairment and degenerative changes. Distal femoral osteotomy (DFO) can be performed with arthroscopic surgery to correct lower extremity malalignment while addressing intra-articular abnormalities or to help patients with knee osteoarthritis (OA) changes due to alignment deformities.

Purpose: To examine survivorship after DFO and identify the predictors for failure. Read More

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http://dx.doi.org/10.1177/2325967120951554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7522844PMC
September 2020

Miniscrew-assisted rapid palatal expansion: A review of recent reports.

J World Fed Orthod 2020 Oct 30;9(3S):S54-S58. Epub 2020 Sep 30.

Department of Orthodontics, The Institute of Craniofacial Deformity, Yonsei University College of Dentistry, Seoul, Korea.

The miniscrew-assisted rapid palatal expander (MARPE) has extended not only skeletal effects with fewer dental changes and but also the age limit of nonsurgical maxillary expansion treatment. Amid its gaining popularity in clinical orthodontics, our current understanding of treatment effectiveness, efficiency, and stability needs to be reassessed. In this review article, the authors have attempted to evaluate MARPE from various aspects with a focus on recent studies. Read More

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http://dx.doi.org/10.1016/j.ejwf.2020.08.004DOI Listing
October 2020

MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin.

EMBO Mol Med 2020 Oct 5:e12356. Epub 2020 Oct 5.

Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA.

Distal arthrogryposis (DA) is group of syndromes characterized by congenital joint contractures. Treatment development is hindered by the lack of vertebrate models. Here, we describe a zebrafish model in which a common MYH3 missense mutation (R672H) was introduced into the orthologous zebrafish gene smyhc1 (slow myosin heavy chain 1) (R673H). Read More

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http://dx.doi.org/10.15252/emmm.202012356DOI Listing
October 2020

Radiographic imaging, densitometry and disease severity in Autosomal dominant osteopetrosis type 2.

Skeletal Radiol 2020 Oct 3. Epub 2020 Oct 3.

Indiana Center for Musculoskeletal Health, Indiana University, Indianapolis, IN, USA.

Objective: To characterize relationships between quantitative computed tomography bone mineral density measurements and other qualitative and quantitative imaging measures, as well as clinical metrics, in patients with autosomal dominant osteopetrosis type 2 (ADO2).

Materials And Methods: Clinical and radiologic parameters of 9 adults and 3 children with autosomal dominant osteopetrosis type 2 were assessed including lumbar spine quantitative computed tomography (QCT), radiographic skeletal survey (skull base thickening; Erlenmeyer flask deformity; endobone pattern; and spine density pattern (endplate sclerosis, "anvil" appearance, or diffuse sclerosis)), dual-energy x-ray absorptiometry (DXA), tibial peripheral quantitative computed tomography (pQCT) volumetric bone mineral density (vBMD), bone turnover markers, and bone marrow failure or visual impairment.

Results: The skeletal parameter most divergent from normal was lumbar spine QCT Z-score (+ 3. Read More

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http://dx.doi.org/10.1007/s00256-020-03625-3DOI Listing
October 2020

Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report.

BMC Med Genet 2020 09 29;21(1):189. Epub 2020 Sep 29.

The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

Background: Acroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-shaped epiphyses, short stature, and advanced bone age. To date, reports on this disorder have focused on phenotypic findings, endocrine changes, and genetic variation. Read More

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http://dx.doi.org/10.1186/s12881-020-01127-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526353PMC
September 2020

A novel FGFR2 (S137W) mutation resulting in Apert syndrome: A case report.

Medicine (Baltimore) 2020 Sep;99(39):e22340

Center of Reproductive Medicine and Center of Prenatal Diagnosis, the First Hospital, Jilin University, Changchun, Jilin, China.

Rationale: Apert syndrome (AS) is an autosomal dominant inheritance pattern of the most severe craniosynostosis syndrome. AS is characterized by synostosis of cranial sutures and acrocephaly, including brachycephaly, midfacial hypoplasia, and syndactyly of the hands and feet. Patients with AS often present with craniosynostosis, severe syndactyly, and skin, skeletal, brain, and visceral abnormalities. Read More

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http://dx.doi.org/10.1097/MD.0000000000022340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7523854PMC
September 2020

Breast Reconstruction with Perforator Flaps in Poland Syndrome: Report of a Two-Stage Strategy and Literature Review.

Breast Care (Basel) 2020 Aug 7;15(4):421-427. Epub 2019 Nov 7.

Department of Aesthetic and Reconstructive Breast Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.

Background: Poland syndrome is a congenital deformity presenting unilateral hypoplasia of the breast, pectoralis muscle, and ipsilateral skeletal anomalies. In complex female cases, the significant amount of soft tissue needed for reconstruction continues to be a surgical challenge. Perforator flaps offer alternative methods with sufficient tissue volume, minimal donor site morbidity, and natural cosmetic outcome; however, their role in Poland syndrome breast reconstruction is seldom discussed. Read More

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http://dx.doi.org/10.1159/000503848DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490654PMC

Signaling pathways affected by mutations causing osteogenesis imperfecta.

Cell Signal 2020 Sep 24;76:109789. Epub 2020 Sep 24.

Dr. Rolf M. Schwiete Research Unit for Osteoarthritis, Orthopedic University Hospital Friedrichsheim gGmbH, Frankfurt/Main, 60528, Germany.

Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous connective tissue disorder characterized by bone fragility and skeletal deformity. To maintain skeletal strength and integrity, bone undergoes constant remodeling of its extracellular matrix (ECM) tightly controlled by osteoclast-mediated bone resorption and osteoblast-mediated bone formation. There are at least 20 recognized OI-forms caused by mutations in the two collagen type I-encoding genes or genes implicated in collagen folding, posttranslational modifications or secretion of collagen, osteoblast differentiation and function, or bone mineralization. Read More

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http://dx.doi.org/10.1016/j.cellsig.2020.109789DOI Listing
September 2020

Simulation of miniscrew-root distance available for molar distalization depending on the miniscrew insertion angle and vertical facial type.

PLoS One 2020 24;15(9):e0239759. Epub 2020 Sep 24.

Department of Orthodontics, Institute of Cranio-Facial Deformity, College of Dentistry, Yonsei University, Seoul, Korea.

Objective: The purpose of this study was to evaluate the effects of miniscrew insertion angle and vertical facial type on the interradicular miniscrew-root distance available for molar distalization.

Materials And Methods: Cone-beam computed tomography images of 60 adults with skeletal Class I occlusion exhibiting hyperdivergent (n = 20), normodivergent (n = 20), and hypodivergent (n = 20) facial types were used. Placement of a 6-mm long, 1. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0239759PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7514046PMC
September 2020

Avoiding Inferior Alveolar Nerve Injury during Osseous Genioplasty: A Guide for the Safe Zone by Three-Dimensional Virtual Imaging.

Plast Reconstr Surg 2020 10;146(4):847-858

Taoyuan, Taiwan From the Imaging Laboratory, Craniofacial Research Center, Chang Gung Memorial Hospital; and the Department of Plastic and Reconstructive Surgery and Craniofacial Research Center, and Division of Craniofacial Orthodontics, Department of Dentistry, Chang Gung Memorial Hospital, Chang Gung University.

Background: No consensus exists about the safest position for performing the osseous genioplasty, with 5 to 6 mm below the mental foramen being the most frequently recommended position. This study intends to generate a safe distance guide to minimize the risk of inferior alveolar nerve injury during osteotomy.

Methods: Pretreatment cone-beam computed tomography-derived three-dimensional models from adult patients with skeletal class I to III patterns and cleft lip/palate deformity who underwent orthodontic-surgical interventions (n = 317) were analyzed. Read More

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http://dx.doi.org/10.1097/PRS.0000000000007160DOI Listing
October 2020

Effects of Orthognathic Surgery on Voice Characteristics.

J Oral Maxillofac Surg 2020 Aug 29. Epub 2020 Aug 29.

Professor, Department of Oral and Maxillofacial Surgery, Cukurova University School of Dentistry, Adana, Turkey.

Purpose: Orthognathic surgery not only corrects dentofacial deformities but also affects some vital structures involving voice production. The primary aim of this study was to analyze the effects of bimaxillary orthognathic surgery on voice characteristics of patients with class II and III skeletal deformities; the second aim was to evaluate possible associations among acoustic parameters, pharyngeal airway, and skeletal changes after surgery.

Materials And Methods: Using a prospective cohort study design, we enrolled a sample of patients who underwent bimaxillary orthognathic surgery in the university hospital between January 2018 and January 2019. Read More

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http://dx.doi.org/10.1016/j.joms.2020.08.033DOI Listing

Quality of Life Assessment in Patients with Malocclusion Undergoing Orthodontic and Orthognathic Treatment.

Zdr Varst 2020 Sep 25;59(3):137-145. Epub 2020 Jun 25.

University of Belgrade, Faculty of Medicine, Institute of Epidemiology, Visegradska 26A, 11000 Belgrade, Serbia.

Introduction: The objective of this study was to assess pre-treatment quality of life and the relevant clinical variables in adult patients with malocclusion in order to improve orthodontic treatment strategies.

Methods: The study was conducted in 240 consecutive adult patients with malocclusions divided into two groups: patients for whom an orthodontic treatment plan was considered, and patients for whom an orthognathic treatment plan was selected. Patients were examined between December 2015 and February 2017, at the School of Dental Medicine, University of Belgrade. Read More

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http://dx.doi.org/10.2478/sjph-2020-0018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7478092PMC
September 2020

Stability of bimaxillary surgery involving intraoral vertical ramus osteotomy with or without presurgical miniscrew-assisted rapid palatal expansion in adult patients with skeletal Class III malocclusion.

Korean J Orthod 2020 Sep;50(5):304-313

Department of Orthodontics, Institute of Craniofacial Deformity, Yonsei University College of Dentistry, Seoul, Korea.

Objective: The aim of this study was to evaluate the stability of bimaxillary surgery involving bilateral intraoral vertical ramus osteotomy performed with or without presurgical miniscrew-assisted rapid palatal expansion (MARPE) in adult patients with skeletal Class III malocclusion.

Methods: A total of 40 adult patients with skeletal Class III malocclusion were retrospectively divided into two groups (n = 20 each) according to the use of MARPE for the correction of transverse maxillomandibular discrepancy during presurgical orthodontic treatment. Serial lateral cephalograms and dental casts were analyzed until 6 months after surgery. Read More

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http://dx.doi.org/10.4041/kjod.2020.50.5.304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7500573PMC
September 2020

Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis.

Orphanet J Rare Dis 2020 Sep 15;15(1):250. Epub 2020 Sep 15.

Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.

Background: We previously reported a novel clinically distinguishable subtype of congenital scoliosis (CS), namely, TBX6-associated congenital scoliosis (TACS). We further developed the TBX6-associated CS risk score (TACScore), a multivariate phenotype-based model to predict TACS according to the patient's clinical manifestations. In this study, we aimed to evaluate whether using the TACScore as a screening method prior to performing whole-exome sequencing (WES) is more cost-effective than using WES as the first-line genetic test for CS. Read More

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http://dx.doi.org/10.1186/s13023-020-01537-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7493351PMC
September 2020

Outcomes of distally un-threaded screw fixation of slipped capital femoral epiphysis at skeletal maturity: a matched cohort study.

J Pediatr Orthop B 2020 Sep 11. Epub 2020 Sep 11.

Department of Orthopaedic, Sheffield Children's Hospital NHS Trust, Sheffield.

The most common treatment for slipped capital femoral epiphysis worldwide is in situ fixation with a threaded screw. Un-threaded screws are designed to prevent slip progression without hindering residual growth of the proximal femur. This study aimed to compare growth, remodelling and long-term outcomes after fixation with un-threaded screws and a matched cohort of patients treated with a standard screw. Read More

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http://dx.doi.org/10.1097/BPB.0000000000000800DOI Listing
September 2020

Nuss procedure for pectus excavatum in a patient with cleidocranial dysplasia.

Gen Thorac Cardiovasc Surg 2020 Sep 14. Epub 2020 Sep 14.

Department of Plastic and Reconstructive Surgery, Faculty of Medicine, Fukuoka University, 7-45-1, Nanakuma, Jonan-ku, Fukuoka, 814-0180, Japan.

Cleidocranial dysplasia is an autosomal skeletal disorder resulting from delayed or abnormal ossification of bony growth. Pectus excavatum independently presented in a 9-year-old boy with cleidocranial dysplasia and was corrected using the Nuss procedure. There were no perioperative complications, and the post-operative course was uneventful. Read More

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http://dx.doi.org/10.1007/s11748-020-01484-2DOI Listing
September 2020

Clinical characteristics of pediatric synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: the first Chinese case series from a single center.

Clin Rheumatol 2020 Sep 15. Epub 2020 Sep 15.

Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

Introduction: Pediatric SAPHO syndrome is regarded as the equivalent of chronic recurrent multifocal osteomyelitis or chronic non-bacterial osteomyelitis. This study aimed to evaluate the clinical features and treatment options for Chinese pediatric patients with SAPHO syndrome.

Method: We conducted a single-center, retrospective study on a sample of 24 pediatric patients with SAPHO syndrome who were diagnosed at Peking Union Medical College Hospital from April 2014 to August 2018. Read More

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http://dx.doi.org/10.1007/s10067-020-05393-wDOI Listing
September 2020

[Amniotic band syndrome: management of skeletal limb abnormalities. A case report].

Arch Argent Pediatr 2020 10;118(5):e486-e490

Servicio de Cirugía Ortopédica y Traumatología. Hospital Clínico Universitario-Malvarrosa, Valencia, España.

Amniotic band syndrome consists in a group of congenital abnormalities caused by strands of the amniotic sac that entangle some parts of the fetus. Those strands result from premature rupture of amnios. The incidence of amniotic band syndrome is 1:1200 to 1:15,000 live births, depending on case studies. Read More

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http://dx.doi.org/10.5546/aap.2020.e486DOI Listing
October 2020

Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation.

Am J Pathol 2020 Sep 11. Epub 2020 Sep 11.

Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts. Electronic address:

Centronuclear myopathies (CNMs) are a subtype of congenital myopathies characterized by skeletal muscle weakness and an increase in the number of central myonuclei. SPEG (striated preferentially expressed protein kinase) has been identified as the sixth gene associated with CNM, and it has been shown that striated muscle-specific Speg-knockout (KO) mice have defective triad formation, abnormal excitation-contraction coupling, and calcium mishandling. The impact of SPEG deficiency on the survival and function of myogenic cells remains to be deciphered. Read More

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http://dx.doi.org/10.1016/j.ajpath.2020.08.012DOI Listing
September 2020

Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors.

Sci Rep 2020 Sep 9;10(1):14859. Epub 2020 Sep 9.

Department of Pediatrics, Graduate School of Medicine, Kyoto University, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto, 606-8507, Japan.

Shwachman-Diamond syndrome (SDS), an autosomal recessive disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, and skeletal abnormalities, is caused by mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene, which plays a role in ribosome biogenesis. Although the causative genes of congenital disorders frequently involve regulation of embryogenesis, the role of the SBDS gene in early hematopoiesis remains unclear, primarily due to the lack of a suitable experimental model for this syndrome. In this study, we established induced pluripotent stem cells (iPSCs) from patients with SDS (SDS-iPSCs) and analyzed their in vitro hematopoietic and endothelial differentiation potentials. Read More

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http://dx.doi.org/10.1038/s41598-020-71844-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7481313PMC
September 2020

Progress and Future Trends in PET/CT and PET/MRI Molecular Imaging Approaches for Breast Cancer.

Front Oncol 2020 12;10:1301. Epub 2020 Aug 12.

PET-CT Center, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Breast cancer is a major disease with high morbidity and mortality in women worldwide. Increased use of imaging biomarkers has been shown to add more information with clinical utility in the detection and evaluation of breast cancer. To date, numerous studies related to PET-based imaging in breast cancer have been published. Read More

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http://dx.doi.org/10.3389/fonc.2020.01301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7435066PMC

Prevalence of Sarcopenia and Whole-Body Composition in Rheumatoid Arthritis.

J Clin Rheumatol 2020 Sep 4. Epub 2020 Sep 4.

Bone Biology Laboratory, School of Medicine, Rosario National University, Rosario.

Background: Rheumatoid arthritis (RA) is a chronic autoimmune disease that leads to joint deformity and disability, as well as muscle involvement. Sarcopenia is characterized by a progressive age-related loss of muscle mass and strength.

Aim: The aim of this study was to evaluate the prevalence of sarcopenia and possible contributing factors associated with sarcopenia in RA patients. Read More

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http://dx.doi.org/10.1097/RHU.0000000000001549DOI Listing
September 2020

Can Rapid Progression in Nonambulatory Cerebral Palsy Scoliosis be Predicted Using Humeral Head Ossification?

J Pediatr Orthop 2020 Sep 1. Epub 2020 Sep 1.

The Children's Hospital of Philadelphia, Philadelphia, PA.

Background: Patients with cerebral palsy scoliosis (CPS) experience higher complication rates compared with idiopathic scoliosis and often present for surgery with larger curves. Prediction of an inflection point for rapid deformity progression has proven difficult. A proximal humerus-based skeletal maturity staging system (HS) has been recently validated and is commonly visible on the posteroanterior radiograph. Read More

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http://dx.doi.org/10.1097/BPO.0000000000001673DOI Listing
September 2020

Are dogs with congenital hearing and/or vision impairments so different from sensory normal dogs? A survey of demographics, morphology, health, behaviour, communication, and activities.

PLoS One 2020 4;15(9):e0230651. Epub 2020 Sep 4.

Non-profit organisation "Blanc Comme Neige", Pont d'Ouilly, France.

The births of domestic dogs with pigment deletion and associated congenital hearing and/or vision impairments are increasing, as a result of mutations of certain genes expressing popular coat colour patterns (Merle, piebald, Irish spotting). The future of these dogs is often pessimistic (early euthanasia or placement in rescues/fosters, lack of interactions and activities for adults). These pessimistic scenarios result from popular assumptions predicting that dogs with congenital hearing/vision impairments exhibit severe Merle-related health troubles (cardiac, skeletal, neurological), impairment-related behavioural troubles (aggressiveness, anxiety), and poor capacities to communicate, to be trained, and to be engaged in leisure or work activities. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0230651PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7473589PMC
October 2020

Dandy-Walker Syndrome Associated with Scoliosis: Clinical Presentation, Preoperative Assessment, and Treatment.

Case Rep Orthop 2020 17;2020:8874819. Epub 2020 Aug 17.

Scottish National Spine Deformity Centre, Royal Hospital for Sick Children, Edinburgh, UK.

Dandy-Walker syndrome (DWS) affects the posterior cranial fossa resulting in characteristic dysmorphic facial and body features. Scoliosis is not typically reported as an extracranial manifestation of this condition. We present a 12-year-old female patient who developed a right thoracic scoliosis measuring 60° with increased lumbar lordosis. Read More

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http://dx.doi.org/10.1155/2020/8874819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448254PMC

Surgical Treatment of Ossifications of the Cervical Anterior Longitudinal Ligament: A Retrospective Cohort Study.

Global Spine J 2020 May 19:2192568220922195. Epub 2020 May 19.

Swedish Neuroscience Institute, Swedish Medical Center, Seattle, WA, USA.

Study Design: Retrospective cohort study.

Objectives: The study aims to evaluate anterior cervical discectomy and fusion (ACDF) in the treatment of patients with ossification of the anterior longitudinal ligament (OALL).

Methods: We retrospectively reviewed cases performed at our institution between January 2015 and December 2018; adult (age ≥18 years) patients who underwent anterior cervical decompression and fusion in the presence of dysphagia and OALL. Read More

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http://dx.doi.org/10.1177/2192568220922195DOI Listing

Negative social comparisons and social discomfort in dentofacial deformity: a cross-sectional study.

Minerva Stomatol 2020 Sep 2. Epub 2020 Sep 2.

Institute of Orthodontics, Faculty of Medicine of the University of Coimbra, Coimbra, Portugal -

Background: Patients with severe dentofacial deformities are more susceptible to psychological distress since they are more likely to be emotionally unstable, less sociable and have higher levels of anxiety and neuroticism. The aim of this study is to assess the relationship between dentofacial deformity, negative social comparisons, anxiety and discomfort in social situations due to face appearance in two independent samples.

Methods: The sample consisted of 136 patients (Group A- 90 college students; Group B- 46 patients with dentofacial dysmorphosis that require orthognathic surgery). Read More

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http://dx.doi.org/10.23736/S0026-4970.20.04412-XDOI Listing
September 2020

Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers.

Mol Genet Genomic Med 2020 Sep 1:e1485. Epub 2020 Sep 1.

Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.

Background: Neurodevelopmental disorders (NDDs) are a group of disorders with high genetic and phenotypic heterogeneities. The 16p11.2 microdeletion has been implicated as an important genetic risk factor for NDDs. Read More

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http://dx.doi.org/10.1002/mgg3.1485DOI Listing
September 2020

Orthodontic and surgical management of a patient with severe mandibular deficiency and asymmetry with condylar hypoplasia using 3-dimensional surgical planning in combination with a modified surgery-first approach.

Am J Orthod Dentofacial Orthop 2020 Sep;158(3):426-442

Department of Craniofacial Sciences, Division of Orthodontics, University of Connecticut School of Dental Medicine, Farmington, Conn.

Progressive improvements in digital technology and surgical techniques have synergized the speed, predictability, and favorable outcomes for patients undergoing surgical-orthodontic treatment with handicapping dentofacial deformities. This case report will demonstrate the management of a patient with severe mandibular hypoplasia, condylar hypoplasia, and mandibular asymmetry. The dentofacial deformity, and consequently, the unaesthetic facial appearance, led to psychosocial stress, symptoms of excessive daytime sleepiness, and functional limitations, especially related to mandibular movements. Read More

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http://dx.doi.org/10.1016/j.ajodo.2019.03.034DOI Listing
September 2020

Diversity in heritable disorders of connective tissue at a single center.

Connect Tissue Res 2020 Sep 8:1-6. Epub 2020 Sep 8.

Department of Pediatrics and Medical Genetics, National Taiwan University Hospital , Taipei, Taiwan.

Background: Heritable disorders of connective tissue (HDCT) is a heterogeneous group of conditions caused by defects in genes responsible for extracellular matrix elements. Although next-generation sequencing (NGS) technology can be used to analyze many genes at a time, precisely diagnosing HDCT is still challenging because of the overlapping phenotypes and genotypes.

Methods: A 67-gene NGS targeted panel or whole-exome sequencing was employed for the diagnosis of HDCT over 4 years. Read More

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http://dx.doi.org/10.1080/03008207.2020.1816994DOI Listing
September 2020

Patient outcomes in idiopathic scoliosis are associated with biological endophenotypes: 2020 SOSORT award winner.

Eur Spine J 2020 Aug 29. Epub 2020 Aug 29.

Viscogliosi Laboratory in Molecular Genetics of Musculoskeletal Diseases, Sainte-Justine University Hospital Research Center, Université de Montréal, Montreal, QC, Canada.

Purpose: Bracing is the treatment of choice for idiopathic scoliosis (IS), unfortunately factors underlying brace response remain unknown. Clinicians are currently unable to identify patients who may benefit from bracing, and therefore, better molecular stratification is critically needed. The aim of this study is to evaluate IS patient outcomes at skeletal maturity in relation to biological endophenotypes, and determine specific endophenotypes associated to differential bracing outcomes. Read More

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http://dx.doi.org/10.1007/s00586-020-06579-1DOI Listing