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https://www.readbyqxmd.com/read/28727989/oral-papillomatosis-in-immunocompromised-patients-a-case-series-of-kidney-transplant-recipients-and-myelodysplastic-syndrome
#1
Eun-Jung Kwak, Yun Hee Choi, Wonse Park, Eunae Sandra Cho
Solitary papilloma is a human papillomavirus (HPV)-induced benign indolent epithelial tumor with limited growth, whereas papillomatosis is an entirely different entity. Papillomatosis requires attention because of its aggressive and recurrent clinical progress with risks of dysplastic and malignant transformation. Recurrent respiratory papillomatosis (RRP) has a high prevalence of dysplasia and reports of transformation to carcinoma-ex-papillomatosis, especially when associated with low-risk HPV type 11. Although papillomatosis seldom occurs in the oral cavity, this report describes 3 cases of oral papillomatosis in immunocompromised patients, with 1 case identified as having HPV type 11...
June 24, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28706789/craniometaphyseal-dysplasia-a-review-and-novel-oral-manifestation
#2
K Martin, S Nathwani, R Bunyan
Craniometaphyseal Dysplasia (CMD) is a sclerosing osseous dysplasia characterised by hyperostosis of craniofacial and long bones, resulting in distortion and cranial nerve palsies. We present a case report on the management of a 63 year old female with Craniometaphyseal Dysplasia. This report describes an additional clinical manifestation of hypercementosis, which although well recognised in other sclerosing osseous dysplasias, is not reported in the literature for Craniometaphyseal Dysplasia. We discuss established in vivo studies in mice which link the genetic mutations found in Craniometaphyseal Dysplasia to hypercementosis, and how this report describes the same manifestation in humans...
May 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28706382/cementless-acetabular-component-with-or-without-upward-placement-in-dysplasia-hip-early-results-from-a-prospective-randomised-study
#3
Zhiqi Zhang, Peihui Wu, Zhiyu Huang, Baoxi Yu, Hong Sun, Ming Fu, Yan Kang, Weiming Liao
BACKGROUND: Total hip arthroplasty (THA) in developmental dysplasia of hip (DDH) is difficult for the abnormal acetabulum. The purpose of this study was to evaluate the difference of anatomic and upward placement of acetabular component during early stage. METHODS: From April 2014 through June 2015, forty DDH patients (Crowe I to III, 42 hips) were prospectively randomized to either anatomic or upward group. Patient recorded diaries were collected. Radiographs were reviewed...
September 2017: Journal of Orthopaedics
https://www.readbyqxmd.com/read/28705589/a-simple-technique-for-the-correction-of-maxillonasal-dysplasia-using-customized-expanded-polytetrafluoroethylene-eptfe-implants
#4
Jiao Wei, Jiawen Luo, Tanja Herrler, Hua Xu, Ning Deng, Qingfeng Li, Chuanchang Dai
BACKGROUND: The treatment of maxillonasal dysplasia in Binder's syndrome using autologous costal bone and cartilage is well established, but postoperative results may be compromised by scarring, unpredictable absorption of transferred autologous tissue, and donor site morbidity. Here, we propose a simple surgical technique to improve maxillonasal dysplasia using an expanded polytetrafluoroethylene (ePTFE) implant. MATERIALS AND METHODS: From February 1999 to May 2014, fifty-eight patients affected by maxillonasal dysplasia with different degrees of flattened nose and midfacial depression underwent surgical correction by augmentation of the nasal dorsum using an "L"-shaped ePTFE and subperiosteal implantation of an inverted "m"-shaped ePTFE at the base of the piriform aperture...
July 5, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28705318/progressive-atrial-conduction-defects-associated-with-bone-malformation-caused-by-a-connexin-45-mutation
#5
Akiko Seki, Taisuke Ishikawa, Xavier Daumy, Hiroyuki Mishima, Julien Barc, Ryo Sasaki, Kiyomasa Nishii, Kayoko Saito, Mari Urano, Seiko Ohno, Saki Otsuki, Hiroki Kimoto, Alban-Elouen Baruteau, Aurelie Thollet, Swanny Fouchard, Stéphanie Bonnaud, Philippe Parent, Yosaburo Shibata, Jean-Philippe Perrin, Hervé Le Marec, Nobuhisa Hagiwara, Sandra Mercier, Minoru Horie, Vincent Probst, Koh-Ichiro Yoshiura, Richard Redon, Jean-Jacques Schott, Naomasa Makita
BACKGROUND: Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often characterized by isolated conduction disturbance of the His-Purkinje system, but it is rarely described as a syndromic form. OBJECTIVES: The authors sought to identify the genetic defect in families with a novel bradyarrhythmia syndrome associated with bone malformation. METHODS: The authors genetically screened 15 European cases with genotype-negative de novo atrioventricular (AV) block and their parents by trio whole-exome sequencing, plus 31 Japanese cases with genotype-negative familial AV block or sick sinus syndrome by targeted exon sequencing of 457 susceptibility genes...
July 18, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28704296/osteotomy-as-a-treatment-option-in-dysplasia-epiphyseal-hemimelica-of-the-distal-radius-a-case-report
#6
Juan J Dominguez-Amador, Francisco J Cordero-Arriaza, Magdalena Casas-Ruiz, José A Andrés-García
Dysplasia epiphysialis hemimelica (DEH), also known as Trevor disease, is a very rare disease characterized by an overgrowth of the osteocartilaginous epiphyseal caused by unknown factors. The medial side of the epiphysis is affected twice as often as the lateral side and more than one epiphysis was affected in two-thirds of the cases. Only a few cases of DEH in the upper extremities have been published, as the lower limb is usually the most affected, especially in the bones of the ankle joint. The symptoms vary from little significant deformities to symptomatic cases, pain, and decreased function depending on the location and the size of the lesion...
July 12, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28703881/a-novel-runx2-mutation-in-exon-8-g462x-in-a-patient-with-cleidocranial-dysplasia
#7
Yu-Jin Jung, Han-Sol Bae, Hyun-Mo Ryoo, Seung-Hak Baek
OBJECTIVE: To identify a novel mutation of Runx2 gene in cleidocranial dysplasia (CCD) patients and to characterize the functional consequences of this mutation. MATERIALS AND METHODS: The subjects consisted of 12 Korean CCD patients. After oral epithelial cells were collected using a mouthwash technique, genomic DNA was extracted. Screening for Runx2 mutation was performed using direct sequencing of polymerase chain reaction (PCR) products for exons 1 to 8. Restriction fragment length polymorphism (RFLP) analysis was performed to confirm the novel mutation...
July 13, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28695182/adolescent-total-knee-arthroplasty
#8
John R Martin, Alan K Sutak, Todd A Milbrandt, Valerie A Martin, Robert T Trousdale
BACKGROUND: Management of adolescent patients with end-stage arthritis is challenging. Nonoperative treatments may be ineffective and total knee arthroplasty (TKA) is rarely performed. Currently, minimal long-term data are available on the outcomes in this patient population. Our goal was to describe TKA for patients with end-stage arthritis who were aged 20 years and younger. METHODS: The Joint Registry at our institution was used to identify 19 patients (29 TKAs) aged 20 years and younger that underwent a primary TKA...
June 2017: Arthroplasty Today
https://www.readbyqxmd.com/read/28691528/ribbing-disease-a-systematic-review
#9
Bart G Pijls, Koen Steentjes, Jan W Schoones, Sander Pd Dijkstra
Background Ribbing disease, or multiple diaphyseal sclerosis, is a rare benign bone dysplasia. Purpose To systematically review the literature to determine the clinical and radiological presentation of patients with Ribbing disease as well as the effects of attempted treatments. Material and Methods We considered individual patient data of patients diagnosed with Ribbing disease derived from patient reports and patient series. All stages of the review were performed by two reviewers independently. Standard descriptive statistics were used for quantitative analyses and mixed model analyses were used when appropriate Results The literature search yielded 420 unique hits of which 23 studies were included, covering a total of 40 patients of whom 29 had bilateral involvement...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28687790/chronic-inflammation-triggered-by-the-nlrp3-inflammasome-in-myeloid-cells-promotes-growth-plate-dysplasia-by-mesenchymal-cells
#10
Chun Wang, Can-Xin Xu, Yael Alippe, Chao Qu, Jianqiu Xiao, Ernestina Schipani, Roberto Civitelli, Yousef Abu-Amer, Gabriel Mbalaviele
Skeletal complications are common features of neonatal-onset multisystem inflammatory disease (NOMID), a disorder caused by NLRP3-activating mutations. NOMID mice in which NLRP3 is activated globally exhibit several characteristics of the human disease, including systemic inflammation and cartilage dysplasia, but the mechanisms of skeletal manifestations remain unknown. In this study, we find that activation of NLRP3 in myeloid cells, but not mesenchymal cells triggers chronic inflammation, which ultimately, causes growth plate and epiphyseal dysplasia in mice...
July 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28687525/smd-kozlowski-type-caused-by-p-arg594his-substitution-in-trpv4-reveals-abnormal-ossification-and-notochordal-remnants-in-discs-and-vertebrae
#11
Tadeusz Bieganski, Peter Beighton, Maciej Lukaszewski, Krzysztof Bik, Lukasz Kuszel, Ewa Wasilewska, Kazimierz Kozlowski, Malwina Czarny-Ratajczak
Spondylometaphyseal dysplasia Kozlowski type (SMDK) is a monogenic disorder within the TRPV4 dysplasia spectrum and has characteristic spinal and metaphyseal involvement. We report skeletal MR imaging in a two-year-old patient who manifested typical clinical and radiographic features of SMDK. The diagnosis was confirmed by molecular analysis which revealed a mutation NM_021625.4:c.1781G > A - p.(Arg594His) in exon 11 of the TRPV4 gene. We have documented abnormalities in endochondral formation of the long and short tubular bones as well as round bones of the wrists and feet...
July 4, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28687222/tp53-and-idh2-somatic-mutations-are-associated-with-inferior-overall-survival-after-allogeneic-hematopoietic-cell-transplantation-for-myelodysplastic-syndrome
#12
Mohamed A Kharfan-Dabaja, Rami S Komrokji, Qing Zhang, Ambuj Kumar, Athanasios Tsalatsanis, Janelle Perkins, Taiga Nishihori, Teresa Field, Najla Al Ali, Asmita Mishra, David Sallman, Karma Z Salem, Ling Zhang, Lynn Moscinski, Hugo F Fernandez, Jeffrey Lancet, Alan List, Claudio Anasetti, Eric Padron
BACKGROUND: Next-generation sequencing has identified somatic mutations that are prognostic of cancer. PATIENTS AND METHODS: We evaluated the incidence and prognostic significance of somatic mutations in 89 myelodysplastic syndrome (MDS) patients who received an allogeneic hematopoietic cell transplantation. Next-generation sequencing was performed on paraffin embedded bone marrow, which was obtained at a median of 31 days before initiating the preparative regimen...
June 16, 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/28686577/mtor-raptor-signaling-is-critical-for-skeletogenesis-in-mice-through-the-regulation-of-runx2-expression
#13
Qinggang Dai, Zhan Xu, Xuhui Ma, Ningning Niu, Siru Zhou, Furong Xie, Lingyong Jiang, Jun Wang, Weiguo Zou
The mammalian target of rapamycin (mTOR)/regulatory-associated protein of mTOR (Raptor) pathway transmits and integrates different signals including growth factors, nutrients, and energy metabolism. Nearly all these signals have been found to play roles in skeletal biology. However, the contribution of mTOR/Raptor to osteoblast biology in vivo remains to be elucidated as the conclusions of recent studies are controversial. Here we report that mice with a deficiency of either mTOR or Raptor in preosteoblasts exhibited clavicular hypoplasia and delayed fontanelle fusion, similar to those found in human patients with cleidocranial dysplasia (CCD) haploinsufficient for the transcription factor runt-related transcription factor 2 (Runx2) or those identified in Runx2(+/-) mice...
July 7, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28683980/midterm-survivorship-and-complications-of-total-knee-arthroplasty-in-patients-with-dwarfism
#14
Timothy L Tan, Michael M Kheir, Ronuk Modi, Chi-Lung Chen, Hongyi Shao, Antonia F Chen
BACKGROUND: Dwarfism is associated with skeletal dysplasias and joint deformities that frequently result in osteoarthritis requiring treatment with total knee arthroplasty (TKA). These surgeries can be challenging because of alignment deformities, poor bone stock, and smaller components. This study aims to compare TKA implant survivorship and complications between dwarf and nondwarf patients. METHODS: A retrospective case-control study was performed from 1997-2014 evaluating 115 TKAs in patients under the height threshold of 147...
June 9, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28682867/camurati-engelmann-disease-a-rare-cause-of-tetany-identified-on-bone-scintigraphy-a-case-report
#15
Peng Xie, Jian-Min Huang, Huan-Li Li, Xiao-Jie Huang, Ling-Ge Wei
RATIONALE: Camurati-Engelmann disease (i.e., progressive diaphyseal dysplasia) is an extremely rare autosomal dominant bone disorder. The most common clinical manifestations were chronic skeletal pain, waddling gait, muscular weakness. PATIENT CONCERNS: We described that a 27-year-old male with a 1-year history of intermittent tetany was referred for bone scintigraphy. The whole body bone scan images showed abnormal increased uptake of the tracer in the long bones of the upper and lower extremities as well as in the skull...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28679999/bone-marrow-failure-in-childhood-central-pathology-review-of-a-nationwide-registry
#16
Masafumi Ito
Refractory cytopenia of childhood (RCC) was proposed as a provisional entity in the 2008 WHO classification of myelodysplastic syndromes (MDS). It is defined as a childhood MDS featuring persistent cytopenia without increase blasts in bone marrow (BM) or peripheral blood (PB). Because the majority of RCC cases feature hypocellularity and pancytopenia, it is quite challenging to differentiate RCC from acquired aplastic anemia (AA) and many kinds of inherited bone marrow failure syndromes (IBMFS). Diagnosis of RCC requires BM histology of characteristic features such as isolated erythroid islet with left shift, abnormal localization and micromegakaryocytes...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28679403/identification-and-in-silico-characterization-of-p-g380r-substitution-in-fgfr3-associated-with-achondroplasia-in-a-non-consanguineous-pakistani-family
#17
Muhammad Ajmal, Asif Mir, Muhammad Shoaib, Salman Akbar Malik, Muhammad Nasir
BACKGROUND: The dimerization efficiency of FGFR3 transmembrane domain plays a critical role in the formation of a normal skeleton through the negative regulation of bone development. Recently, gain-of-function mutations in the transmembrane domain of FGFR3 has been described associated with an aberrant negative regulation, leading to the development of achondroplasia-group disorders, including achondroplasia (ACH), hypochondroplasia (HCH) and thanatophoric dysplasia (TD). Here, we describe a non-consanguineous Pakistani family with achondroplasia to explain hereditary basis of the disease...
July 5, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28678149/periacetabular-quadruple-osteotomy-of-the-pelvis-in-older-children-computed-tomography-scan-analysis-of-acetabular-retroversion-and-anterior-overcoverage-of-the-hip-preventing-femoral-acetabular-impingement
#18
Roger Jawish, Hassan Najdi, Ali Krayan
The periacetabular quadruple osteotomy of the pelvis (QOP), with the osteotomy of ischial spine to release the sacrospinal ligament, is reserved for older children with low potential of remodeling. Different parameters were studied with computed tomography (CT) scan before (pre-OH) and after surgery (post-OH) and for nonoperated hip (NOH). The study determined an optimal method to avoid retroversion and excessive anterior coverage. Fifteen QOP were performed in 13 patients, ranging in age from 10 to 15 years...
July 3, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28676968/melorheostosis-a-rare-sclerosing-bone-dysplasia
#19
REVIEW
Anupam Kotwal, Bart L Clarke
PURPOSE OF REVIEW: Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we describe the natural history, radiological features, proposed pathogenesis, and management options for this debilitating condition. RECENT FINDINGS: Since its first description in 1922, about 400 cases of melorheostosis have been reported, either as single reports or in small case series...
July 4, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28676838/effect-of-intranasal-calcitonin-in-a-patient-with-mccune-albright-syndrome-fibrous-dysplasia-and-refractory-bone-pain
#20
Tayane Muniz Fighera, Poli Mara Spritzer
McCune-Albright syndrome (MAS) is a rare disease defined by the triad of polyostotic fibrous dysplasia of bone, café-au-lait skin spots, and precocious puberty. No available treatment is effective in changing the course of fibrous dysplasia of bone, but symptomatic patients require therapeutic support to reduce bone pain and prevent fractures and deformities. We report the case of a 27-year-old woman with MAS and severe fibrous dysplasia. She was diagnosed with MAS at 4 years of age and, during follow-up, she had multiple pathological fractures and bone pain refractory to treatment with bisphosphonates, tricyclic antidepressants, and opioids...
2017: Case Reports in Endocrinology
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