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bone dysplasias

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https://www.readbyqxmd.com/read/29667269/effects-of-bmp-2-on-the-osteogenic-differentiation-of-bone-marrow-stem-cells-in-fibrous-dysplasia
#1
Soyoun Um, Hui Young Kim, Byoung-Moo Seo
OBJECTIVES: The purpose of this study was to evaluate the effects of BMP-2 on bone-grafting procedures for treatment of fibrous dysplasia based on in vitro and in vivo experiments. SUBJECTS AND METHODS: Proliferation of stem cells was determined by colony-forming assay, CCK-8 assay, and BrdU staining. OCT4 and NANOG expression was analyzed by flow cytometry and immunocytochemistry. Osteogenic differentiation was assessed by measuring ALP activity, alizarin red S staining, and in vivo transplantation...
April 18, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29664512/short-stature-and-hypothyroidism-in-a-child-with-nail-patella-syndrome-a-case-report
#2
C Goecke, C Mellado, C García, H García
BACKGROUND: Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29664498/-hypophosphatemia-in-preterm-infants-a-bimodal-disorder
#3
María Paz Cubillos Celis, Patricia Mena Nannig
New nutritional approaches to treat extreme premature babies have demonstrated relevant eviden ce of metabolic disturbances with early hypophosphatemia, especially in patients with intrauterine growth restriction (IUGR). They have shown late hypophosphatemia, as well, which is characteristic in the metabolic bone disease. A sytematic search of literature describing metabolic disturbances of phosphorus in preterm newborns is presented, related to the use of early parenteral nutrition and also in the context of metabolic bone disease...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29664332/characterization-of-dental-phenotype-in-patients-with-cleidocranial-dysplasia-using-longitudinal-data
#4
Sang-Woon Ha, Yu-Jin Jung, Han-Sol Bae, Hyun-Mo Ryoo, Il-Sik Cho, Seung-Hak Baek
OBJECTIVE: To investigate the characteristics of the dental phenotype in patients with cleidocranial dysplasia (CCD) using longitudinal data. MATERIALS AND METHODS: Twelve unrelated Korean CCD patients were observed using a longitudinal series of radiographs and clinical photographs. Statistical analysis was performed on the dental phenotypic data. RESULTS: Although dysplasia of the clavicles, open fontanelle, and wormian bone were observed in all 12 patients, delayed fusion of the mandibular symphysis was found in four patients...
April 17, 2018: Angle Orthodontist
https://www.readbyqxmd.com/read/29662652/guided-bone-regeneration-using-a-bone-tissue-engineering-complex-consisting-of-a-poly-dl-lactide-membrane-and-bone-mesenchymal-stem-cells
#5
Dahui Wang, Yifeng Lin, Lian Chen, Yueqiang Mo, Peng Huang, Ruixue Ma
Developmental dysplasia of the hip (DDH) is one of the most common diseases encountered in pediatric orthopedic departments. Current treatment strategies seek to improve acetabular coverage, the principal defect of acetabular dysplasia, but are not very successful. We developed a guided bone regeneration (GBR) strategy to improve acetabular coverage via bone tissue engineering (BTE). Poly- dl -lactide (PDLLA) membranes were seeded with bone marrow mesenchymal stem cells (BMSCs) to form a BTE complex, which was then implanted into the superior margin of the acetabulum in a rabbit DDH model...
March 27, 2018: Oncotarget
https://www.readbyqxmd.com/read/29660408/expansion-of-the-clinical-spectrum-of-frontometaphyseal-dysplasia-2-caused-by-the-recurrent-mutation-p-pro485leu-in-map3k7
#6
Alice Costantini, Carina Wallgren-Pettersson, Outi Mäkitie
Frontometaphyseal dysplasia 2 (FMD2) is a skeletal dysplasia with supraorbital hyperostosis combined with undermodeling of the bones, joint contractures and some extraskeletal features. It is caused by heterozygous mutations in MAP3K7, encoding the Mitogen-Activated Protein 3-Kinase 7. MAP3K7 is activated by TGF-β and plays an important role in osteogenesis. Less than 20 patients with FMD2 and MAP3K7 mutations have been described thus far. The majority of the patients harbor a recurrent missense mutation, NM_003188...
April 13, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29659673/evaluation-of-the-utility-of-bone-marrow-morphology-and-ancillary-studies-in-pediatric-patients-under-surveillance-for-myelodysplastic-syndrome
#7
Karen M Chisholm, Min Xu, Billy Davis, Amy Ogi, M Cristina Pacheco, Amy E Geddis, Karen D Tsuchiya, Joe C Rutledge
Objectives: To evaluate the utility of flow cytometry, karyotype, and a fluorescence in situ hybridization (FISH) panel in screening children for myelodysplastic syndrome (MDS). Methods: Bone marrow morphology, flow cytometry, karyotype, and FISH reports from 595 bone marrow specimens (246 patients) were analyzed. Results: By morphology, 8.7% of cases demonstrated at least unilineage dysplasia and/or increased blasts. Flow cytometry identified definitive abnormalities in 2...
April 5, 2018: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29657451/total-hip-arthroplasty-in-hurler-syndrome-8-years-follow-up-a-case-report-with-review-of-literature
#8
Deepak Gautam, Rajesh Malhotra
Life expectancy in Hurler syndrome is significantly improved by enzyme therapy with bone marrow transplantation. However, the deterioration of skeletal abnormalities persists. Hip dysplasia is a common presentation which may progress to significant hip arthritis requiring total hip arthroplasty at later stage. We report a long-term outcome of cementless total hip arthroplasty in a patient with Hurler syndrome who was successfully treated with bone marrow transplant.
March 2018: Journal of Orthopaedics
https://www.readbyqxmd.com/read/29656376/human-genetics-of-sclerosing-bone-disorders
#9
REVIEW
Raphaël De Ridder, Eveline Boudin, Geert Mortier, Wim Van Hul
PURPOSE OF REVIEW: The group of sclerosing bone disorders encompasses a variety of disorders all marked by increased bone mass. In this review, we give an overview of the genetic causes of this heterogeneous group of disorders and briefly touch upon the value of these findings for the development of novel therapeutic agents. RECENT FINDINGS: Advances in the next-generation sequencing technologies are accelerating the molecular dissection of the pathogenic mechanisms underlying skeletal dysplasias...
April 14, 2018: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/29650642/setd2-regulates-quiescence-and-differentiation-of-adult-hematopoietic-stem-cells-by-restricting-rna-polymerase-ii-elongation
#10
Yile Zhou, Xiaomei Yan, Xiaomin Feng, Jiachen Bu, Yunzhu Dong, Peipei Lin, Yoshihiro Hayashi, Rui Huang, Andre Olsson, Paul R Andreassen, H Leighton Grimes, Qian-Fei Wang, Tao Cheng, Zhijian Xiao, Jie Jin, Gang Huang
SET domain containing 2 (Setd2), encoding a histone methyltransferase, is associated with many hematopoietic diseases when mutated. By generating a novel exon 6 conditional knockout mouse model, we described an essential role of Setd2 in maintaining the adult hematopoietic stem cells. Loss of Setd2 results in leukopenia, anemia, and increased platelet accompanied with hypocellularity, erythroid dysplasia, and mild fibrosis in bone marrow. Setd2 knockout mice show significantly decreased hematopoietic stem and progenitor cells except for erythroid progenitors...
April 12, 2018: Haematologica
https://www.readbyqxmd.com/read/29643796/a-rare-form-of-corneal-opacity-associated-with-spondyloepiphyseal-dysplasia-congenita
#11
Yuichiro Ishida, Shizuka Koh, Takashi Kaito, Kohji Nishida
A 13-year-old Japanese female diagnosed with spondyloepiphyseal dysplasia congenita (SEDC) was referred for ophthalmologic evaluation. Examination with slit-lamp and optical coherence tomography revealed bilateral thin cornea with diffuse corneal opacity which was localised at the posterior stromal depth in the central cornea. Unlike the two previously reported cases of diffuse and nodular patterns of corneal opacity in SEDC, the current case exhibited a rare form of corneal opacity. SEDC is one of the type II collagenopathies, characterised by dwarfism because the mutations in COL2A1 prevent bone growth...
January 2018: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/29627275/growth-impairment-in-mucopolysaccharidoses
#12
REVIEW
Melodie Melbouci, Robert W Mason, Yasuyuki Suzuki, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that affect regulation of glycosaminoglycan (GAG) processing. In MPS, the lysosomes cannot efficiently break down GAGs, and the specific GAGs accumulated depend on the type of MPS. The level of impairment of breakdown varies between patients, making this one of the many factors that lead to a range of clinical presentations even in the same type of MPS. These clinical presentations usually involve skeletal dysplasia, in which the most common feature is bone growth impairment and successive short stature...
March 16, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29624481/craniofacial-manifestations-of-systemic-disorders-ct-and-mr-imaging-findings-and-imaging-approach
#13
V Carlota Andreu-Arasa, Margaret N Chapman, Hirofumi Kuno, Akifumi Fujita, Osamu Sakai
Many systemic diseases or conditions can affect the maxillofacial bones; however, they are often overlooked or incidentally found at routine brain or head and neck imaging performed for other reasons. Early identification of some conditions may significantly affect patient care and alter outcomes. Early recognition of nonneoplastic hematologic disorders, such as thalassemia and sickle cell disease, may help initiate earlier treatment and prevent serious complications. The management of neoplastic diseases such as lymphoma, leukemia, or Langerhans cell histiocytosis may be different if diagnosed early, and metastases to the maxillofacial bones may be the first manifestation of an otherwise occult neoplasm...
April 6, 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29620206/genetic-analysis-of-a-congenital-split%C3%A2-hand-split%C3%A2-foot-malformation-4-pedigree
#14
Xiao Yang, Xinfu Lin, Yaobin Zhu, Jiewei Luo, Genhui Lin
In the present study whole-exome sequencing using the Complete Genomics platform was employed to scan a proband from a split‑hand/split‑foot malformation (SHFM) 4 family. The missense mutation c.728G>A (p.Arg243Gln) in the TP63 gene was revealed to be associated with SHFM. Sanger sequencing confirmed the sequences of the proband and his father. The father was diagnosed with SHFM and harbored a CGG‑to‑CAG mutation in exon 5, which produced a R243Q substitution in the zinc binding site and dimerization site of TP63...
March 29, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29619484/a-simple-technique-to-strengthen-the-initial-and-mid-term-to-long-term-stability-of-the-cup-during-total-hip-arthroplasty-in-developmental-dysplasia-of-the-hip
#15
Mingqiang Guan, Guanming Zhou, Xue Li
OBJECTIVES: To assess the effects of a technique of cup blocking screws combined with impaction bone grafting during total hip arthroplasty (THA) for patients with developmental dysplasia of the hip (DDH). METHODS: From August 2011 to July 2015, 53 patients (59 hips) with DDH in our hospital were treated with THA using the technique of cup blocking screws combined with impaction particulate bone grafting. These patients were prospectively followed, and the clinical and imaging results were collected...
April 2018: Saudi Medical Journal
https://www.readbyqxmd.com/read/29618691/-monomac-syndrome-patient-developing-myelodysplastic-syndrome-following-persistent-ebv-infection
#16
Hideyuki Yamamoto, Hikaru Hattori, Erina Takagi, Takanobu Morishita, Yuichi Ishikawa, Seitaro Terakura, Tetsuya Nishida, Yoshinori Ito, Makoto Murata, Hitoshi Kiyoi
An 18-year-old man was diagnosed with Epstein-Barr virus (EBV) -associated hemophagocytic syndrome (HPS) and treated with prednisolone (PSL) at a previous hospital. During PSL tapering, the HPS symptoms reappeared, and the patient was referred to our hospital. Increased PSL improved the symptoms, but the EBV infection remained unresolved. At age 20, he was admitted to our hospital for newly developed pneumonia and diagnosed with myelodysplastic syndrome (refractory cytopenia with multilineage dysplasia) (MDS-RCMD; normal karyotype, IPSS: Int-1) by bone marrow examination...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29617878/role-of-tgf%C3%AE-signaling-in-maternal-ethanol-induced-fetal-articular-cartilage-dysplasia-and-adult-onset-of-osteoarthritis-in-male-rats
#17
Qubo Ni, Kaihang Lu, Jing Li, Yang Tan, Jun Qin, Jacques Magdalou, Liaobin Chen, Hui Wang
Background: Based on our previous findings that prenatal ethanol exposure in offspring increased susceptibility to adult osteoarthritis (OA), this study aimed to further investigate the direct toxicity of ethanol on fetal articular cartilage development. Methods: Rat bone marrow-derived stroma cells (BMSCs) were capsulated in alginate beads, incubated in a chondrogenic differentiation medium, and cultured for 4 weeks with ethanol treatment at concentrations of 0, 4, 20, and 100 mM...
March 29, 2018: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/29610693/total-hip-arthroplasty-in-a-patient-with-oto-spondylo-megaepiphyseal-dysplasia-planned-by-three-dimensional-motion-analyses-and-full-scale-three-dimensional-plaster-model-of-bones
#18
Takeyuki Tanaka, Hideya Ito, Hirofumi Oshima, Nobuhiko Haga, Sakae Tanaka
We present the case of a 28-year-old woman with oto-spondylo-megaepiphyseal dysplasia, which is a rare skeletal disorder, who underwent bilateral total hip arthroplasty. Full-scale three-dimensional plaster model of the acetabulum and the femur provided us with a feasible preoperative plan. Pre- and postoperative three-dimensional motion analyses proved a significant improvement in her ambulation and confirmed the efficacy of total hip arthroplasty. In conclusion, full-scale three-dimensional plaster models of the bone and three-dimensional motion analyses were useful for total hip arthroplasty in patients with skeletal dysplasia...
2018: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/29599892/thioredoxin-1-protects-bone-marrow-derived-mesenchymal-stromal-cells-from-hyperoxia-induced-injury-in-vitro
#19
Lei Zhang, Jin Wang, Yan Chen, Lingkong Zeng, Qiong Li, Yalan Liu, Lin Wang
Background: The poor survival rate of mesenchymal stromal cells (MSC) transplanted into recipient lungs greatly limits their therapeutic efficacy for diseases like bronchopulmonary dysplasia (BPD). The aim of this study is to evaluate the effect of thioredoxin-1 (Trx-1) overexpression on improving the potential for bone marrow-derived mesenchymal stromal cells (BMSCs) to confer resistance against hyperoxia-induced cell injury. Methods: 80% O2 was used to imitate the microenvironment surrounding-transplanted cells in the hyperoxia-induced lung injury in vitro ...
2018: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29599748/polyostotic-fibrous-dysplasia-with-and-without-mccune-albright-syndrome-clinical-features-in-a-nordic-pediatric-cohort
#20
Pauliina Utriainen, Helena Valta, Sigridur Björnsdottir, Outi Mäkitie, Eva Horemuzova
Objective: Fibrous dysplasia (FD) presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic GNAS mutation. McCune-Albright syndrome (MAS) refers to FD combined with skin (café-au-lait) and endocrine manifestations. This study describes the clinical childhood manifestations of polyostotic FD and MAS in a Nordic cohort. Patients and design: We retrospectively reviewed a cohort of pediatric patients ( n  = 16) with polyostotic FD with or without MAS diagnosed and followed in two Nordic Pediatric tertiary clinics between 1996 and 2017...
2018: Frontiers in Endocrinology
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