29,023 results match your criteria Schwartz-Jampel Syndrome


A man with facial disfigurement.

Pan Afr Med J 2018;30:196. Epub 2018 Jul 5.

Excellence Center in Diabetes, Hormones and Metabolism, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

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http://dx.doi.org/10.11604/pamj.2018.30.196.16299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235515PMC
December 2018
1 Read

Modular Proteoglycan Perlecan/: Mutations, Phenotypes, and Functions.

Genes (Basel) 2018 Nov 16;9(11). Epub 2018 Nov 16.

Department of Bioengineering, Rice University, Houston, TX 77005, USA.

Heparan sulfate proteoglycan 2 () is an essential, highly conserved gene whose expression influences many developmental processes including the formation of the heart and brain. The gene is widely expressed throughout the musculoskeletal system including cartilage, bone marrow and skeletal muscle. The gene product, perlecan is a multifunctional proteoglycan that preserves the integrity of extracellular matrices, patrols tissue borders, and controls various signaling pathways affecting cellular phenotype. Read More

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http://www.mdpi.com/2073-4425/9/11/556
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http://dx.doi.org/10.3390/genes9110556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6266596PMC
November 2018
2 Reads

Long-term follow-up of a Schwartz-Jampel syndrome case.

Wiad Lek 2018 ;71(7):1429-1432

Faculty Of Medicine And Health Science, Jan Kochanowski University, Kielce, Poland.

Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterised by myotonia and bone dysplasia. It is inherited as an autosomal recessive trait and caused by mutations in the perlecan-encoding gene HSPG2. Its symptoms include muscular stiffness and hypertrophy. Read More

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January 2018

Mosaic Effects of Growth Hormone on Fibrous Dysplasia of Bone.

N Engl J Med 2018 11;379(20):1964-1965

National Institutes of Health, Bethesda, MD

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http://dx.doi.org/10.1056/NEJMc1808583DOI Listing
November 2018
10 Reads

The results of osteotomy at the base of femoral neck with osteoplasty in restoration of abductor function and strength in slipped capital femoral epiphysis.

Bone Joint J 2018 Nov;100-B(11):1524-1532

Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil; Department of Biomechanics, Medicine and Rehabilitation of the Locomotor System, Clinical Hospital of Ribeirão Preto, Ribeirão Preto, Brazil.

Aims: The aims of this study were to evaluate the abductor function in moderate and severe slipped capital femoral epiphysis (SCFE), comparing the results of a corrective osteotomy at the base of the femoral neck and osteoplasty with 1) in situ epiphysiodesis for mild SCFE, 2) contralateral unaffected hips, and 3) hips from healthy individuals.

Patients And Methods: A total of 24 patients (mean age 14.9 years (sd 1. Read More

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https://online.boneandjoint.org.uk/doi/10.1302/0301-620X.100
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http://dx.doi.org/10.1302/0301-620X.100B11.BJJ-2018-0273.R1DOI Listing
November 2018
9 Reads

Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.

Hum Genet 2018 Dec 27;137(11-12):905-909. Epub 2018 Oct 27.

Divisions of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montreal, QC, Canada.

Lowry-Wood syndrome (LWS) is a skeletal dysplasia characterized by multiple epiphyseal dysplasia associated with microcephaly, developmental delay and intellectual disability, and eye involvement. Pathogenic variants in RNU4ATAC, an RNA of the minor spliceosome important for the excision of U12-dependent introns, have been recently associated with LWS. This gene had previously also been associated with microcephalic osteodysplastic primordial dwarfism (MOPD) and Roifman syndrome (RS), two distinct conditions which share with LWS some skeletal and neurological anomalies. Read More

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http://link.springer.com/10.1007/s00439-018-1950-8
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http://dx.doi.org/10.1007/s00439-018-1950-8DOI Listing
December 2018
6 Reads
4.824 Impact Factor

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.

Medicine (Baltimore) 2018 Oct;97(42):e12855

Department of Medical Genetics.

Hereditary multiple osteochondroma (HMO) is one of the most common genetic skeletal disorders. It is caused by mutations in either EXT1 or EXT2 resulting in abnormal skeletal growth and morphogenesis. However, the spectrum and frequency of EXT1 and EXT2 mutations in Chinese patients with HMO was not previously investigated. Read More

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http://Insights.ovid.com/crossref?an=00005792-201810190-0005
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http://dx.doi.org/10.1097/MD.0000000000012855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211902PMC
October 2018
2 Reads

Diagnostic value of ultrasonography in synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome: A case report.

Medicine (Baltimore) 2018 Oct;97(41):e12725

Department of Rheumatology.

Rationale: Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is a rare condition that affects the skin, bones, and joints. Diagnosis of SAPHO syndrome is established based on clinical manifestations and imaging features on radiography or magnetic resonance imaging.

Patient Concerns: We report a 44-year-old male with a 20-year history of pustulosis who presented with pain in the lower extremities. Read More

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http://dx.doi.org/10.1097/MD.0000000000012725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203473PMC
October 2018
1 Read

Osteosarcoma in an Adolescent with Kniest Dysplasia: A Case Report.

JBJS Case Connect 2018 Oct 10. Epub 2018 Oct 10.

Musculoskeletal Research Center, Department of Orthopaedic Surgery, Children's Hospital Colorado, Aurora, Colorado.

Case: A 19-year-old adolescent with Kniest dysplasia was incidentally found to have osteosarcoma of the proximal aspect of the humerus after having a chest radiograph for evaluation of an upper respiratory infection. He underwent chemotherapy and resection of the tumor, and there was no evidence of metastasis at the 16-month follow-up.

Conclusion: Patients with osteochondrodysplasias often have multiple orthopaedic symptoms. Read More

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http://dx.doi.org/10.2106/JBJS.CC.18.00047DOI Listing
October 2018

A Best Practice Initiative to Optimize Transfer of Young Adults With Osteogenesis Imperfecta From Child to Adult Healthcare Services.

Clin Nurse Spec 2018 Nov/Dec;32(6):323-335

Author Affiliations: Nursing Student (Ms Carrier), Research Trainee (Mss Siedlikowski and Michalovic), Professor of Pediatrics (Dr Rauch), and Assistant Professor (Dr Tsimicalis), Faculty of Medicine, McGill University; and Shriners Nursing Research Coordinator (Ms Bilodeau), Research Assistant (Mss Chougui, Carrier and Siedlikowski), Director of Nursing and Patient Care Services (Ms Thorstad), Clinical Nurse (Mss Plourde and Michalovic), Physiotherapist (Mss Mercier and Thevasagayam), Occupational Therapist (Ms Lafrance), Social Worker (Ms Wong), Pediatrician (Dr Rauch), and Nurse Scientist (Dr Tsimicalis), Shriners Hospitals for Children-Canada, Montreal, Quebec, Canada.

Purpose: The aims of this study were (1) to review the current body of knowledge on the transition experiences of adolescents with osteogenesis imperfecta (OI) and appraise the evidence available on transfer summary tools, (2) to develop guidelines for the successful transition of adolescents with OI from child to adult healthcare services, and (3) to create a transfer tool tailored to adolescents with OI.

Design And Methods: This knowledge synthesis study was overseen by an interprofessional expert task force at Shriners Hospitals for Children-Canada and entailed (1) review of the literature, (2) development of guidelines, and (3) creation of a tool.

Results: The tool was created from evidence compiled from case reports, clinical examples, and nonexperimental studies. Read More

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http://Insights.ovid.com/crossref?an=00002800-201811000-0000
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http://dx.doi.org/10.1097/NUR.0000000000000407DOI Listing
October 2018
1 Read
0.900 Impact Factor

Case 3: A 10-year-old Boy with Saber Shins.

Pediatr Rev 2018 Oct;39(10):523-526

Division of Genetic and Metabolic Disorders, Department of Pediatrics, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit, MI.

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http://dx.doi.org/10.1542/pir.2017-0068DOI Listing
October 2018

Collagen I Defect Corneal Profiles in Osteogenesis Imperfecta.

Cornea 2018 Dec;37(12):1561-1565

Medical Genetics Service, Clinical Hospital of Porto Alegre, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.

Purpose: The goal of this study was to evaluate corneal profiles of patients with osteogenesis imperfecta (OI) due to a collagen I gene mutation.

Methods: This was a cross-sectional comparative study. There were 84 eyes from 42 patients with OI types I, III, and IV who were recruited from the OI Clinic at the Clinical Hospital of Porto Alegre, Brazil. Read More

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http://Insights.ovid.com/crossref?an=00003226-900000000-9672
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http://dx.doi.org/10.1097/ICO.0000000000001764DOI Listing
December 2018
2 Reads

Wolcott-Rallison Syndrome With Different Clinical Presentations and Genetic Patterns in 2 Infants.

Health Care Manag (Frederick) 2018 Oct/Dec;37(4):354-357

Author Affiliations: Subspecialty in Pediatric Endocrine and Metabolism (Dr Davoodi) Department of Pediatric Endocrinology, Namazi Hospital (Dr Karamizadeh), Shooshtari Hospital (Dr Ghobadi), and English Department (Dr Shokrpour), Shiraz University of Medical Sciences, Shiraz, Iran.

Wolcott-Rallison syndrome is a rare disease presenting with insulin-dependent diabetes mellitus (DM) before 6 months old, skeletal dysplasia after 6 months old, and liver failure. Other manifestations are renal failure, microcephaly, epilepsy, central hypothyroidism, neutropenia, and dental and dermal problems. The cases were 2 patients from 2 different states of Iran (Khoozestan and Fars) who had developed DM before 6 months old. Read More

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http://dx.doi.org/10.1097/HCM.0000000000000238DOI Listing
December 2018
1 Read

Metaphyeal and Diaphyseal Dysplasia of the Third Cervical Vertebra Secondary to Physeal Necrosis in a Quarter Horse Foal.

J Comp Pathol 2018 Aug 23;163:38-41. Epub 2018 Aug 23.

The Ohio State University College of Veterinary Medicine, Columbus, Ohio, USA. Electronic address:

Ischaemia-induced physeal injury has not been described previously in the horse. A 1-month-old Quarter horse foal was submitted for necropsy examination due to an acute onset of ataxia followed by a 4-week history of progressive decline. Focal narrowing of the spinal canal due to ventral compression by the rotation of the cranial aspect of the third cervical vertebra (C3) was observed. Read More

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http://dx.doi.org/10.1016/j.jcpa.2018.07.001DOI Listing
August 2018
2 Reads

Slipped Capital Femoral Epiphysis: A Review for Pediatricians.

Pediatr Ann 2018 Sep;47(9):e377-e380

Slipped capital femoral epiphysis (SCFE) is one of the most common hip pathologies that occurs during adolescence, and its incidence has been increasing over the past decades. For this reason, pediatricians should be aware of this entity to ensure an early diagnosis and intervene in a timely manner. The typical patient with SCFE is an adolescent who is obese presenting with hip pain, but it can also occur in children who are not obese; therefore, SCFE should be part of the differential diagnosis in any skeletally immature patient presenting with hip or knee pain. Read More

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http://dx.doi.org/10.3928/19382359-20180730-01DOI Listing
September 2018
8 Reads

Perlecan/HSPG2: Signaling role of domain IV in chondrocyte clustering with implications for Schwartz-Jampel Syndrome.

J Cell Biochem 2018 Sep 11. Epub 2018 Sep 11.

Department of BioSciences, Rice University, Houston, Texas.

Perlecan/heparan sulfate proteoglycan 2 (HSPG2), a large HSPG, is indispensable for the development of musculoskeletal tissues, where it is deposited within the pericellular matrix (PCM) surrounding chondrocytes and disappears nearly completely at the chondro-osseous junction (COJ) of developing long bones. Destruction of perlecan at the COJ converts an avascular cartilage compartment into one that permits blood vessel infiltration and osteogenesis. Mutations in perlecan are associated with chondrodysplasia with widespread musculoskeletal and joint defects. Read More

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http://doi.wiley.com/10.1002/jcb.27521
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http://dx.doi.org/10.1002/jcb.27521DOI Listing
September 2018
11 Reads

Cystic Degeneration of Craniofacial Fibrous Dysplasia.

World Neurosurg 2018 Dec 31;120:159-162. Epub 2018 Aug 31.

Department of Radiology and Nuclear Medicine, Erasmus Medical Center, Erasmus Medical Center and Sophia Children's Hospital, Rotterdam, The Netherlands.

Background: Fibrous dysplasia (FD) is most often a slowly progressive benign disease in which the normal bone structure is replaced by fibrous and osteoid tissue.

Case Description: A 16-year-old adolescent, known with FD in the sphenoid bone, suffered an acute decreased visual acuity with papilledema on the left eye. The radiologic images were best compatible with cystic degeneration of the known FD with optic nerve compression in the optic canal. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.08.175DOI Listing
December 2018
7 Reads

Orthodontic management of a patient with cherubism: A case report.

Am J Orthod Dentofacial Orthop 2018 Sep;154(3):433-441

Division of Orthodontics and Dentofacial Orthopedics, Department of Dentistry, Bronx Care Health System, Bronx, NY.

Introduction: The aim of this case report was to present the successful orthodontic treatment of an adolescent girl with cherubism.

Methods: The patient began treatment after puberty. Necessary extractions were performed, and she had full-arch treatment of the maxillary and mandibular anterior teeth. Read More

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http://dx.doi.org/10.1016/j.ajodo.2017.05.038DOI Listing
September 2018

Pediatric Hip Disorders: Slipped Capital Femoral Epiphysis and Legg-Calvé-Perthes Disease.

Pediatr Rev 2018 Sep;39(9):454-463

Montefiore Medical Center and the Children's Hospital at Montefiore, Bronx, NY.

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http://dx.doi.org/10.1542/pir.2017-0197DOI Listing
September 2018
1 Read

Hereditary multiple exostoses of the ribs as an uncommon cause of pneumothorax: A case report.

Medicine (Baltimore) 2018 Aug;97(35):e11894

Department of Respiratory Diseases, University Hospital, Reims, France.

Rationale: Hereditary multiple exostoses (HME) is a genetic musculoskeletal condition causing multiple exostoses. Rib location of exostosis can be complicated by thoracic injuries.

Patient Concerns And Diagnoses: We report a case of pneumothorax in a 32-year-old man with a partial left-sided pneumothorax caused by an exostosis of the fourth and fifth ribs. Read More

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http://dx.doi.org/10.1097/MD.0000000000011894DOI Listing
August 2018
7 Reads

Terminal osseous dysplasia presenting with intracytoplasmic inclusion bodies in digital fibromas.

Pediatr Dermatol 2018 Nov 31;35(6):e353-e356. Epub 2018 Aug 31.

Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany.

Terminal osseous dysplasia is a rare, X-linked syndrome, presumptively embryonic lethal in males, which has recently been described with highly characteristic skin findings. The presence of intracytoplasmic inclusion bodies in fibroblasts has been considered an exclusive finding of infantile digital fibromatosis. This is the first report documenting digital fibromas with intracytoplasmic inclusion bodies in a classic case of terminal osseous dysplasia. Read More

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http://doi.wiley.com/10.1111/pde.13656
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http://dx.doi.org/10.1111/pde.13656DOI Listing
November 2018
3 Reads

Molecular profiling of different glioma specimens from an Ollier disease patient suggests a multifocal disease process in the setting of IDH mosaicism.

Brain Tumor Pathol 2018 Oct 29;35(4):202-208. Epub 2018 Aug 29.

Department of Pathology, Duke University Medical Center 3712, Davison Building, Durham, NC, 27710, USA.

Ollier disease (OD) and Maffucci syndrome are rare conditions due to a post-zygotic somatic mutation that results in mosaicism. In addition to enchondromas and hemangiomas, some of these patients also develop other unrelated tumors, such as gliomas, that harbor IDH mutations, suggesting that an IDH mutation is a common genetic event in the tumorigenesis in this group of patients. We illustrate an interesting case of multifocal IDH-mutant astrocytomas in an OD patient with 8 years of follow-up. Read More

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http://dx.doi.org/10.1007/s10014-018-0327-yDOI Listing
October 2018
1 Read

Short stature and growth hormone deficiency: unexpected manifestations of McCune-Albright syndrome.

BMJ Case Rep 2018 Aug 27;2018. Epub 2018 Aug 27.

Department of Radiology, Princess Marina Hospital, Gaborone, Botswana.

McCune-Albright syndrome (MAS) is a rare disease characterised by triad of monostotic or polyostotic fibrous dysplasia, café au-lait skin spots and a variety of endocrine disorders; precocious puberty (PP) being the most common presenting symptom in female patients. Hyperfunction endocrinopathies including hyperthyroidism, growth hormone excess and cortisol excess are typical presentations in MAS. We present a case of 21-year-old woman with clinical and radiological characteristics of MAS triad; she presented with short stature which was attributed to both growth hormone deficiency and PP. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22570
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http://dx.doi.org/10.1136/bcr-2018-225709DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119388PMC
August 2018
8 Reads

Unusual migration of a Kirschner wire in a patient with Osteogenesis Imperfecta: A case report.

Medicine (Baltimore) 2018 Aug;97(34):e11829

Joint Reconstruction Research Center, Department of Orthopedics, Tehran University of Medical Sciences, Tehran, Iran.

Rationale: Kirschner wires (K-wires) are the most commonly used implants in orthopedic surgery. Although complications are not uncommon, they are mostly benign in nature and easily managed. While migration of K-wires is a rare complication, fatal outcomes have been reported. Read More

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http://dx.doi.org/10.1097/MD.0000000000011829DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112978PMC
August 2018
11 Reads

Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testing.

J Hum Genet 2018 Nov 21;63(11):1129-1137. Epub 2018 Aug 21.

Department of Obstetrics and Gynecology, Peking University People's Hospital, Beijing, 100044, China.

Noninvasive prenatal testing (NIPT), which involves analysis of circulating cell-free fetal DNA (cffDNA) from maternal plasma, is highly effective for detecting feto-placental chromosome aneuploidy. However, recent studies suggested that coverage-based shallow-depth NIPT cannot accurately detect smaller single or multi-loci genetic variants. To assess the fetal genotype of any locus using maternal plasma, we developed a novel genotyping algorithm named pseudo tetraploid genotyping (PTG). Read More

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http://www.nature.com/articles/s10038-018-0489-9
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http://dx.doi.org/10.1038/s10038-018-0489-9DOI Listing
November 2018
6 Reads

Workflow for Pediatric Midface and Orbital Reconstruction With a Patient-Specific Autogenous Bone Graft.

Ophthalmic Plast Reconstr Surg 2018 Sep/Oct;34(5):e172-e175

Division of Maxillofacial Surgery, Department of Surgery, Centre Hospitalier Régional Universitaire de Lille, Lille, France.

Extensive midface and orbital reconstruction is challenging, especially in a pediatric population. A 13-year-old patient was diagnosed with fibrous dysplasia of the midface, which required complete resection of the zygomatic bone and orbital floor. The authors present a complete midface and orbital reconstruction, using a patient-specific autologous bone graft, in a growing pediatric patient. Read More

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http://dx.doi.org/10.1097/IOP.0000000000001210DOI Listing
September 2018

3-morpholinosydnonimine (SIN-1)-induced oxidative stress leads to necrosis in hypertrophic chondrocytes in vitro.

Biomed Pharmacother 2018 Oct 30;106:1696-1704. Epub 2018 Jul 30.

Institute of Endemic Diseases, School of Public Health, Xi'an Jiaotong University Health Science Center, Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission, Xi'an, 710061, Shaanxi, PR China. Electronic address:

Chondrocyte is targeted for disruption in Osteoarthritis (OA) and Kashin-Beck Disease (KBD), and chondrocyte death in cartilage may contribute to the progression of OA and KBD. Oxidative stress leads to increased risk for OA. Previous work in our laboratory implicates oxidative stress as a potential mediator in children with KBD. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07533322183320
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http://dx.doi.org/10.1016/j.biopha.2018.07.128DOI Listing
October 2018
8 Reads

Imaging features and differential diagnosis of multiple diaphyseal sclerosis: A case report and review of literature.

Medicine (Baltimore) 2018 Aug;97(33):e11725

Department of Spine Surgery, The First Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, People's Republic of China.

Rationale: Multiple diaphyseal sclerosis (MDS), known as Ribbing disease, is a rare congenital bone disease resulting from autosomal recessive inheritance. The case study involved a 22-year-old female patient who had been diagnosed with chronic sclerosing osteomyelitis due to lack of knowledge about MDS. Previous studies reported rarely on this condition. Read More

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http://dx.doi.org/10.1097/MD.0000000000011725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112893PMC
August 2018
11 Reads

Congenital dislocation of the knee in a three-year-old-child with Larsen syndrome: Treatment with a hexapod-type external fixator.

Knee 2018 Oct 12;25(5):966-971. Epub 2018 Aug 12.

Department of Paediatric Orthopaedic Surgery, Amiens University Hospital, Amiens, France; Jules Verne University of Picardie, Amiens, France.

Congenital knee dislocation (CDK) is a rare condition, and its treatment is subject to debate. Here, we report on a new treatment for CDK (using a hexapod-type external fixator, HEF) in a three-year-old child with Larsen syndrome and grade III anterior dislocations of both knees. The left knee was treated with serial splints, whereas an HEF was used to treat an irreducible dislocation of the right knee. Read More

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http://dx.doi.org/10.1016/j.knee.2018.07.006DOI Listing
October 2018
12 Reads

Schwartz-Jampel syndrome: Is risk of malignant hyperthermia the same as that of the general population?

Saudi J Anaesth 2018 Jul-Sep;12(3):498-499

King Faisal Specialist Hospital and Research Centre, Riyadh 12713, Saudi Arabia.

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http://dx.doi.org/10.4103/sja.SJA_98_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6044147PMC

Minor spliceosome inactivation causes microcephaly, owing to cell cycle defects and death of self-amplifying radial glial cells.

Development 2018 08 28;145(17). Epub 2018 Aug 28.

Physiology and Neurobiology Department, University of Connecticut, Storrs, CT 06269, USA

Mutation in minor spliceosome components is linked to the developmental disorder microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). Here, we inactivated the minor spliceosome in the developing mouse cortex (pallium) by ablating , which encodes the crucial minor spliceosome small nuclear RNA (snRNA) U11. conditional knockout mice were born with microcephaly, which was caused by the death of self-amplifying radial glial cells (RGCs), while intermediate progenitor cells and neurons were produced. Read More

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http://dx.doi.org/10.1242/dev.166322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6141777PMC
August 2018
12 Reads

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.

Proc Natl Acad Sci U S A 2018 08 6;115(34):E8037-E8046. Epub 2018 Aug 6.

Center for Medical Genetics Ghent, Ghent University, 9000 Ghent, Belgium.

The type I collagenopathies are a group of heterogeneous connective tissue disorders, that are caused by mutations in the genes encoding type I collagen and include specific forms of osteogenesis imperfecta (OI) and the Ehlers-Danlos syndrome (EDS). These disorders present with a broad disease spectrum and large clinical variability of which the underlying genetic basis is still poorly understood. In this study, we systematically analyzed skeletal phenotypes in a large set of zebrafish, with diverse mutations in the genes encoding type I collagen, representing different genetic forms of human OI, and a zebrafish model resembling human EDS, which harbors a number of soft connective tissues defects, typical of EDS. Read More

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http://dx.doi.org/10.1073/pnas.1722200115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112716PMC
August 2018
2 Reads

Histopathological pattern of primary bone tumours and tumour-like lesions in Ile-Ife, Nigeria.

Pan Afr Med J 2018 2;29:193. Epub 2018 Apr 2.

Obafemi Awolowo University, Ile-Ife, Osun State, Nigeria.

Introduction: Bone tumours are relatively rare in comparison with neoplasms in other parts of the body. Previous studies have noted higher frequencies of these tumours in young adults with potentially devastating consequences.

Methods: This study aimed to demonstrate the histopathological pattern of primary bone tumours and tumour-like lesions in Ile-Ife, Nigeria with emphasis on relative frequencies and distribution according to age, sex and anatomical location. Read More

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http://dx.doi.org/10.11604/pamj.2018.29.193.13111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061811PMC

Pediatric Pain Syndromes and Noninflammatory Musculoskeletal Pain.

Pediatr Clin North Am 2018 08;65(4):801-826

Research Institute, Child Health Evaluative Sciences, Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

Chronic musculoskeletal pain (CMP) is one of the main reasons for referral to a pediatric rheumatologist and is the third most common cause of chronic pain in children and adolescents. Causes of CMP include amplified musculoskeletal pain, benign limb pain of childhood, hypermobility, overuse syndromes, and back pain. CMP can negatively affect physical, social, academic, and psychological function so it is essential that clinicians know how to diagnose and treat these conditions. Read More

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http://dx.doi.org/10.1016/j.pcl.2018.04.004DOI Listing
August 2018
1 Read

Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management.

Orthop Surg 2018 Aug 19;10(3):241-246. Epub 2018 Jul 19.

Institute of Medical Chemistry, Medical University of Vienna, Austria.

Objectives: There are several types of metaphyseal chondrodysplasia and various clinical types have been differentiated. The Schmid type of metaphyseal chondrodysplasia is the most common. Diffuse metaphyseal flaring, irregularity, and growth plate widening, which are most severe in the knees, are the most striking radiological features of this disease. Read More

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http://dx.doi.org/10.1111/os.12382DOI Listing
August 2018
9 Reads

Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report.

Medicine (Baltimore) 2018 Jul;97(28):e11283

Department of Dermatology.

Rationale: Frontometaphyseal dysplasia (FMD) is a dominant X-linked rare disease caused by mutations of FLNA. The distinctive features of FMD include skeletal dysplasia, facial dysmorphism, extremities anomalies, deafness, cleft palate and eye anterior segment anomalies, yet none of the complications, such as acro-osteolysis, keratitis, xerosis or poikiloderma, have been reported in FMD.

Patient Concerns: A 29-year-old mother and her 7-year-old daughter, both presented with congenital glaucoma, craniofacial dysmorphism, xerosis and poikiloderma, were admitted to our hospital in 2011. Read More

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http://dx.doi.org/10.1097/MD.0000000000011283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6076188PMC
July 2018
14 Reads
5.720 Impact Factor

Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review.

Virchows Arch 2018 Nov 8;473(5):645-648. Epub 2018 Jul 8.

Molecular (Epi)Genetic lab, Araba University Hospital, BioAraba National Health Institute, Vitoria, Spain.

Craniofacial fibrous dysplasia, characteristic of McCune-Albright syndrome (MAS), is usually present in patients with MAS-related acromegaly. We report here the first case of a patient with an undiagnosed MAS presenting with an acute hydrocephalus. A 21-year-old male with gigantism and craniofacial fibrous dysplasia consulted for rapidly progressive headache. Read More

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http://dx.doi.org/10.1007/s00428-018-2396-zDOI Listing
November 2018
10 Reads

Natural history of 39 patients with Achondroplasia.

Clinics (Sao Paulo) 2018 07 2;73:e324. Epub 2018 Jul 2.

Unidade de Genetica, Instituto da Crianca (ICR), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, BR.

Objectives: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments.

Methods: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016.

Results: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. Read More

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http://dx.doi.org/10.6061/clinics/2018/e324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005962PMC
July 2018
11 Reads

The Pathology of Type II Modic Changes: Fat Deposition or Osteosclerosis? A Study Using CT Scan.

Biomed Res Int 2018 4;2018:6853720. Epub 2018 Jun 4.

Department of Orthopedics, Huashan Hospital, Fudan University, Shanghai, China.

Study Design: A retrospective cross-sectional study of type II Modic changes (MCs).

Objective: To evaluate the CT values of type II MCs and determine their relationship with disc degeneration.

Methods: 124 type II MCs from 66 patients' MRI and CT were included and analyzed. Read More

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http://dx.doi.org/10.1155/2018/6853720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008722PMC
December 2018

Case 3: Skull Depression in a 9-month-old Girl.

Pediatr Rev 2018 Jul;39(7):366-369

Department of Pediatrics, University of Nevada Las Vegas School of Medicine, Las Vegas, NV.

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http://dx.doi.org/10.1542/pir.2016-0194DOI Listing
July 2018
1 Read

Case 1: Microcephaly, Skeletal Dysplasia, and Immunodeficiency in a Newborn.

Pediatr Rev 2018 Jul;39(7):359-362

Department of Medical Genetics and Genomic Medicine, Saint Peter's University Hospital, New Brunswick, NJ.

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http://dx.doi.org/10.1542/pir.2017-0101DOI Listing
July 2018
1 Read

Post-traumatic pseudoaneurysm of brachial artery in multiple hereditary exostoses.

BMJ Case Rep 2018 Jun 27;2018. Epub 2018 Jun 27.

Pediatric Orthopaedic Associates, East Brunswick, New Jersey, USA.

Pseudoaneurysms adjacent to exostoses have been commonly reported in the femoral and popliteal arteries and only rarely in the upper extremity. We describe a case of an 18-year-old man with multiple hereditary exostoses who developed a brachial artery pseudoaneurysm after minor trauma to his right upper arm, adjacent to a known lesion. He was referred to a vascular surgeon who removed the pseudoaneurysm and repaired the artery with a saphenous vein graft. Read More

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http://dx.doi.org/10.1136/bcr-2018-224353DOI Listing
June 2018
4 Reads

Fibrous Dysplasia: A Complex Maxillary Reconstruction.

J Craniofac Surg 2018 Oct;29(7):e660-e661

Unit of Maxillo-Facial Surgery, University of Rome "Sapienza," Sant'Andrea Hospital, Rome, Italy.

Fibrous dysplasia is a benign tumor of the skeleton. Mostly 2 forms are described: a monostotic and a poliostotic form. The maxilla and the mandible are the most interested of the facial district. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004701DOI Listing
October 2018
1 Read

An Exceptional Neurosurgical Presentation of a Patient with Osteopetrosis.

World Neurosurg 2018 Nov 20;119:25-29. Epub 2018 Jun 20.

Cerrahpasa Medical Faculty, Department of Neurosurgery, Istanbul University, Istanbul, Turkey. Electronic address:

Background: Osteopetrosis (OP) is a varied clinical condition caused by malfunction or insufficient development of osteoclasts, or both. Neurologic findings can occur because of osteopetrotic conditions restricting neural foramina through which the spinal cord, cranial nerves, or major vascular structures traverse the skull. Renal tubular acidosis (RTA) is a well-documented condition with OP. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.06.081DOI Listing
November 2018
9 Reads

Case report: successful treatment of refractory SAPHO syndrome with the JAK inhibitor tofacitinib.

Medicine (Baltimore) 2018 Jun;97(25):e11149

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

Introduction: Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is an autoinflammatory disorder without standardized treatment. Janus kinase (JAK) inhibitors can block a range of cytokines and might possess significant anti-inflammatory activity. Here, we report the first case of efficacious treatment of refractory SAPHO syndrome with the JAK inhibitor tofacitinib. Read More

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http://dx.doi.org/10.1097/MD.0000000000011149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6024477PMC
June 2018
16 Reads

Longitudinal analysis of the audiological phenotype in osteogenesis imperfecta: a follow-up study.

J Laryngol Otol 2018 Aug 18;132(8):703-710. Epub 2018 Jun 18.

Department of Otorhinolaryngology,Ghent University Hospital,Belgium.

Objective: This prospective study involved a longitudinal analysis of the progression of hearing thresholds in patients with osteogenesis imperfecta.

Methods: Audiometric results from 36 osteogenesis imperfecta patients (age range, 6-79 years) were compared between two test times with an average interval of 4 years. Audiometric evaluation included acoustic admittance measurements, acoustic stapedial reflex measurements, pure tone audiometry and otoacoustic emissions testing. Read More

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http://dx.doi.org/10.1017/S0022215118000956DOI Listing

Novel HSPG2 mutations causing Schwartz‑Jampel syndrome type 1 in a Chinese family: A case report.

Mol Med Rep 2018 Aug 6;18(2):1761-1765. Epub 2018 Jun 6.

Department of Sports Medicine and Adult Reconstructive Surgery, Drum Tower Hospital, School of Medicine, Nanjing University, Nanjing, Jiangsu 210008, P.R. China.

Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disease caused by mutations in the gene heparan sulfate proteoglycan 2 (HSPG2; also known as basement membrane‑specific heparin sulfate). In the present study, a 10‑year‑old female SJS1 proband from a Chinese family, who was diagnosed by X‑ray and physical examination, was recruited. The key clinical features of the patient with SJS1 included short stature, joint contractures, pigeon breast, and myotonia that led to progressive stiffness of the face and limbs; barely discernible kyphosis was also noted. Read More

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http://dx.doi.org/10.3892/mmr.2018.9143DOI Listing
August 2018
19 Reads

Maxillomandibular giant osteosclerotic lesions.

J Appl Oral Sci 2018 06 18;26:e20170535. Epub 2018 Jun 18.

Universidad Nacional Autónoma de México, Facultad de Odontología, Ciudad del México, México.

Introduction: Giant Osteosclerotic Lesions (GOLs) are a group of rarely reported intraosseous lesions. Their precise diagnosis is important since they can be confused with malignant neoplasms.

Objective: This retrospective study aimed to record and analyze the clinical and radiographic Giant Osteosclerotic Lesions (GOLs) detected in the maxillomandibular area of patients attending to our institution. Read More

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http://dx.doi.org/10.1590/1678-7757-2017-0535DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010325PMC

The Peritubercle Lucency Sign is a Common and Early Radiographic Finding in Slipped Capital Femoral Epiphysis.

J Pediatr Orthop 2018 Aug;38(7):e371-e376

Department of Orthopedic Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA.

Background: A rotational mechanism of slipped capital femoral epiphysis (SCFE) in which the epiphyseal tubercle acts as a fulcrum has been recently described. However, there is limited radiographic evidence supporting this theory. We aimed to investigate whether a radiographic lucency around the epiphyseal tubercle (peritubercle lucency sign) could be observed before or at the diagnosis of a subsequent slip in patients initially presenting with unilateral SCFE. Read More

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http://dx.doi.org/10.1097/BPO.0000000000001198DOI Listing
August 2018
1 Read

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.

J Hum Genet 2018 Sep 8;63(9):1003-1007. Epub 2018 Jun 8.

Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, is a rare autosomal recessive disorder of the skeleton characterized by disproportionate short stature with narrow chest and dysmorphic facial features. The skeletal manifestations include platyspondyly, short flared ribs, short tubular bones with abnormal metaphyses and epiphyses, severe brachydactyly, and premature stippled calcifications in the cartilage. The abnormal calcifications are so distinctive as to point to the definitive diagnosis. Read More

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http://dx.doi.org/10.1038/s10038-018-0473-4DOI Listing
September 2018
2 Reads