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bone dysplasias

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https://www.readbyqxmd.com/read/29444796/biopsy-proven-multiple-sclerosis-in-an-adult-patient-with-atypical-craniometaphyseal-dysplasia
#1
Jacopo C DiFrancesco, Giuseppe Isimbaldi, Maria Francesca Bedeschi, Barbara Castellotti
Craniometaphyseal dysplasia (CMD) is a rare condition characterised by progressive, diffuse hyperostosis of cranial and long bones, with compression of cranial nerves, linked to mutations in ANKH or GJA1 genes. Here we describe an adult case with clinical features of CMD, who developed cerebral expansive lesion of undetermined nature. Brain biopsy revealed active demyelinating lesions, consistent with multiple sclerosis. The genetic screening of target genes for CMD ( ANKH and GJA1 ) resulted negative in this patient...
February 14, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29437806/rhabdomyolysis-in-stuve-wiedemann-syndrome
#2
Pemantah Sandheeah Ramdeny, Colin Powell, Mallinath Chakraborty, Louise Hartley
A 6-month-old male infant with Stuve-Wiedemann syndrome (SWS) presented with an acute respiratory arrest secondary to a rhinovirus respiratory infection from which he was rapidly resuscitated. He developed an acute kidney injury requiring supportive treatment and on day 3 of his illness was noted to have developed severe rhabdomyolysis (creatine kinase level 132 040 U/L (normal <320 U/L)). He was born from consanguineous parents with homozygous mutations in the leukaemia inhibitory factor receptor. He had skeletal dysplasia with metabolic bone disease and episodes of hyperthermia with lactic acidosis...
February 8, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29437009/the-bhlh-protein-nulp1-is-essential-for-femur-development-via-acting-as-a-cofactor-in-wnt-signaling-in-drosophila
#3
Q Zeng, Y Wan, P Zhu, M Zhao, F Jiang, J Chen, M Tang, X Zhu, Y Li, H Zha, Y Wang, M Hu, X Mo, Y Zhang, Y Deng, Y Chen, X Fan, Y Chen, X Ye, R Bodmer, K Ocorr, Z Jiang, J Zhuang, W Yuan, X Wu
The basic helix-loop-helix (bHLH) protein families are a large class of transcription factors, which are associated with cell proliferation, tissue differentiation, and other important development process. We reported that the Nuclear localized protein-1 (Nulp1) might act as a novel bHLH transcriptional factor to mediate cellular functions. However, its role in development in vivo remains unknown. Here we show that Drosophila Nulp1 (dNulp1) mutants, generated by CRISPR/Cas9 targeting the Domain of Unknown Function (DUF654) in its C terminal, are partially homozygous lethal and the rare escapers have bent femurs, which are similar to the major manifestation of congenital bent-bone dysplasia in human Stuve-Weidemann syndrome...
February 12, 2018: Current Molecular Medicine
https://www.readbyqxmd.com/read/29435294/therapy-associated-myelodysplastic-syndrome-with-monosomy-7-arising-in-a-muir-torre-syndrome-patient-carrying-setbp1-mutation
#4
David Ullman, Erin Baumgartner, Nicholas Wnukowski, Gabe Koenig, Fady M Mikhail, Peter Pavlidakey, Deniz Peker
Muir-Torre Syndrome (MTS) is a rare hereditary autosomal dominant cancer syndrome and is linked to hereditary non-polyposis colorectal carcinoma (Lynch Syndrome). Individuals develop various skin neoplasms in addition to colorectal, endometrial and upper gastrointestinal malignancies. Therapy-associated myelodysplastic syndrome (T-MDS) is an aggressive hematologic malignancy and is considered a pre-leukemic phase. T-MDS is associated with prior exposure to chemo- and radiotherapy that potentially results in DNA damage...
February 2018: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29434178/a-case-series-of-fibro-osseous-lesions-of-the-jaws
#5
Masaya Akashi, Kenji Matsuo, Manabu Shigeoka, Yasumasa Kakei, Takumi Hasegawa, Akira Tachibana, Shungo Furudoi, Takahide Komori
The aim of this case series was to reveal the difficulties in diagnosing fibro-osseous lesions with radiological and histopathological examinations and quantify the potential risk of infection to fibro-osseous legions. To analyze the concordance between radiological and histopathological diagnoses, this retrospective case series included patients who were clinically diagnosed with fibro-osseous lesions via radiological findings and excluded the patients who did not undergo histopathological examinations. This study also included the patients in whom histopathological results confirmed fibro-osseous legions when preoperative radiological diagnosis did not include fibro-osseous legions...
December 18, 2017: Kobe Journal of Medical Sciences
https://www.readbyqxmd.com/read/29434149/pancytopenia-and-myelodysplastic-changes-in-aceruloplasminemia-a-case-with-a-novel-pathogenic-variant-in-the-ceruloplasmin-gene
#6
Ayako Yamamura, Yoshitaka Kikukawa, Kenji Tokunaga, Eiko Miyagawa, Shinya Endo, Hirosada Miyake, Hiroyuki Hata, Hiroaki Mitsuya, Kunihiro Yoshida, Masao Matsuoka
A 72-year-old Japanese woman suffered from mild pancytopenia 3 years before her initial hospitalization. On admission, the levels of trace elements, particularly copper, and ceruloplasmin were significantly decreased in her blood serum. Abdominal lymphadenopathy and bone marrow dysplasia were detected. Hemosiderin deposition was observed in her lymph nodes and bone marrow, and magnetic resonance imaging suggested its deposition in various organs. A novel missense pathogenic variant (c.T1670G) was detected in the ceruloplasmin gene, resulting in an amino acid change (p...
February 9, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29424156/-particle-impaction-bone-graft-and-plate-internal-fixation-for-the-treatment-of-proximal-femoral-bone-tumor-or-tumor-lesion
#7
Hong-Tao Li, Yong-Zhi Yang, De-Bao Zhang, Gui-Shan Gu
OBJECTIVE: To evaluate the clinical feasibility of particle impaction bone graft and plate internal fixation for the treatment of proximal femoral bone tumors or tumor disease. METHODS: From January 2013 to January 2016 a total of 26 cases of the proximal femur bone tumors or tumor lesions, neither pathological fracture, were retrospectively analyzed, including 12 males and 14 females with an average age of 34.2 years old ranging from 8 to 62 years old. The pathologic result involved fibrous dysplasia in 11 cases, bone isolation bone cyst in 7 cases, giant cell tumors of bone in 3 cases, aneurysm sample bone cyst in 3 cases, non ossifying fibroma in 1 case, benign fibrous histiocytoma in 1 case...
July 25, 2017: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/29416170/benign-aggressive-lesions-of-femoral-head-and-neck-is-salvage-possible
#8
Yogesh Panchwagh, Sujit K Joshi, Parag K Sancheti
Background: Benign aggressive bone lesions of the femoral head and neck are mostly seen in young adults and warrant treatment for pain, impending fracture or established fracture, and disease clearance. It becomes challenging to treat them effectively while attempting salvage of the femoral head and yet achieving long term disease control with minimum complications. We describe our technique and experience in dealing with these lesions which can achieve the above-mentioned goals and can be easily replicated...
January 2018: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/29415943/-relationship-between-clinical-features-and-somatic-gene-mutations-in-myelodysplastic-syndrome
#9
Nobuhiro Hirasawa, Mamiko Sakata-Yanagimoto, Yasuhito Nannya, Keiichiro Hattori, Yasuhito Suehara, Takayasu Kato, Yasuhisa Yokoyama, Naoki Kurita, Naoshi Obara, Seishi Ogawa, Yuichi Hasegawa, Shigeru Chiba
Recent progress in sequencing studies has suggested that somatic mutations can be used in clinical sequencing for predicting prognosis and selecting treatment options in myelodysplastic syndrome (MDS). A 48-year-old man was diagnosed with refractory cytopenia with multilineage dysplasia that is classified as a subtype of high-risk MDS based on both revised International Prognostic Scoring System and refined WHO classification based Prognostic Scoring System. He received a bone marrow transplant from an HLA-matched sibling donor at X+87 months because of disease progression...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29409074/skeletal-dysplasias-radiologic-approach-with-common-and-notable-entities
#10
Anh-Vu Ngo, Mahesh Thapa, Jeffrey Otjen, Shawn E Kamps
Skeletal dysplasia is a heterogeneous group of abnormalities affecting growth and development of bone and cartilage characterized by disproportionate shortening of the limbs and/or spine. A systematic radiographic approach combined with pertinent clinical details can help guide specific genetic testing and treatment. We provide a discussion and examples of a few common and notable skeletal dysplasias to help familiarize general, pediatric, and musculoskeletal radiologists who do not commonly encounter children with these entities in their daily practices...
February 2018: Seminars in Musculoskeletal Radiology
https://www.readbyqxmd.com/read/29407041/high-bone-mass-in-adults
#11
Julien Paccou, Laetitia Michou, Sami Kolta, Françoise Debiais, Bernrard Cortet, Pascal Guggenbuhl
A finding of high bone mineral density (BMD) from routine dual-energy X-ray absorptiometry (DXA) screening is not uncommon. No consensus exists about the definition of high BMD, and T-score and/or Z-score cutoffs of ≥+2.5 or ≥+4 have been suggested. The many disorders that can result in high BMD are usually classified based on whether the BMD changes are focal vs. generalized or acquired vs. constitutional. In over half the cases, careful interpretation of the DXA report and images identifies the cause as an artefact (e...
January 30, 2018: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/29406819/successful-implant-placement-in-a-case-of-florid-cemento-osseous-dysplasia-a-case-report-and-literature-review
#12
Nasrin Esfahanizadeh, Hila Yousefi
Florid cemento-osseus dysplasia (FCOD) has been described as a reactive process in which normal bone is replaced by fibrous connective tissues and cementum-like materials. Radiographically it appears as dense, lobulated masses, often occurring bilaterally with symmetric involvement. In this case report a successful implant placement has been reported in a 62-year-old Caucasian woman with a chief complaint of mandibular partial edentulous. Radiographic images showed the bilateral radio-opaque lesions in edentulous regions of mandible, and mandibular anterior teeth alike...
February 6, 2018: Journal of Oral Implantology
https://www.readbyqxmd.com/read/29404238/fibro-osseous-lesions-of-the-skull-base-in-the-pediatric-population
#13
REVIEW
Meghan Wilson, Carl Snyderman
Fibro-osseous lesions of the skull base include a variety of lesions with different biologic behavior. The most common lesions include fibrous dysplasia, osteoma, aneurysmal bone cyst, and juvenile ossifying fibroma. The diagnosis can usually be established with radiographic imaging. In the absence of symptoms, slow-growing lesions can often be observed. When surgery is indicated for relief of symptoms, endoscopic endonasal techniques are well suited for all age groups.
February 2018: Journal of Neurological Surgery. Part B, Skull Base
https://www.readbyqxmd.com/read/29398271/tread-carefully-a-functional-variant-in-the-human-nadph-oxidase-4-nox4-is-not-disease-causing
#14
Michael Nafisinia, Minal Juliet Menezes, Wendy Anne Gold, Lisa Riley, Joshua Hatch, John Cardinal, David Coman, John Christodoulou
In this study, we report a paediatric patient with a lethal phenotype of respiratory distress, failure to thrive, pancreatic insufficiency, liver dysfunction, hypertrophic cardiomyopathy, bone marrow suppression, humoral and cellular immune deficiency. To identify the genetic basis of this unusual clinical phenotype and potentially make available the option of future prenatal testing, whole exome sequencing (WES) was used followed by functional studies in a bid to confirm pathogenicity. The WES we identified a homozygous novel variant, AK298328; c...
February 2, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29393050/sphenoid-bone-fibrous-dysplasia-detected-incidentally-on-bone-scintigraphy-by-the-contribution-of-spect-ct-hybrid-imaging
#15
Hüseyin Şan, Kürşat Okuyucu, Ali Ozan Öner, Özdeş Emer, Alper Özgür Karaçalıoğlu
Fibrous dysplasia (FD) is a benign fibroosseous bone disorder. It has poliostotic and monostotic patterns. Monostotic FD is frequently asymptomatic and is usually discovered incidentally by radiologic imaging performed for other reasons. Bone scintigraphy is valuable for identifying disease extent. Craniofacial FD (CFD) is a form of the disease where lesions are limited to contiguous bones of the craniofacial skeleton. We presented a case with monostotic CFD who was detected incidentally on bone scintigraphy single-photon emission computed tomography/computerized tomography while being investigated for inflammatory arthropaties...
February 1, 2018: Molecular Imaging and Radionuclide Therapy
https://www.readbyqxmd.com/read/29389339/segmental-odontomaxillary-dysplasia-an-underrecognized-entity
#16
Molly Housley Smith, Donald M Cohen, Joseph Katz, Indraneel Bhattacharyya, Nadim M Islam
BACKGROUND AND OVERVIEW: Segmental odontomaxillary dysplasia (SOD) is a characteristic developmental abnormality that demonstrates posterior maxillary enlargement, dental abnormalities, altered bone trabeculation, and possible cutaneous findings. Only 62 cases have been reported in the English-language literature. CASE DESCRIPTION: The authors described 3 newly diagnosed cases of SOD, all found in the left posterior maxilla in adolescent female patients; they reviewed the literature to elucidate this rare entity...
February 2018: Journal of the American Dental Association
https://www.readbyqxmd.com/read/29387305/craniomaxillofacial-fibrous-dysplasia-conservative-treatment-and-maxillary-osteotomy-using-the-schuchardt-kufner-technique
#17
Manlio Galiè, Giulia Carnevali, Giovanni Elia, Massimo Pedriali, Luigi C Clauser
Fibrous dysplasia (FD) is a disturbance of the mesenchymal tissue that accounts for 2.5% of all bone tumors and more than 7% of nonmalignant bone tumors. In the craniomaxillofacial region, FD affects the calvaria, skull base, zygoma, and jaws, the prevalent site being the maxilla (50% of cases). Therapy for craniomaxillofacial FD is surgical. The goals of surgery are to prevent functional disorders and restore facial symmetry, volume, and contour. In this article, we present a case of a young female patient affected by right orbital-zygomatic-maxillary FD...
March 2018: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/29377557/superiorly-curved-scalp-incision-for-implantation-of-magnetic-transcutaneous-bone-conduction-devices-multicentre-experience-of-60-patients
#18
Kadir Serkan Orhan, Jaydip Ray, Beldan Polat, Simon Carr, Necati Enver, Javier Moraleja Deleito, Larissa Greenwood, Yahya Güldiken
The authors describe the use of superiorly curved scalp Incision for Implantation of Magnetic Transcutaneous Bone Conduction Devices They describe a new technical aspect to minimise numbness issues in a series of 60 patients from two tertiary referral centres. An inferiorly-based flap design will help to preserve branches of the great auricular and lesser occipital nerves, which normally sacrificed with the original technique. Superiorly curved scalp Incision will be suitable for subsequent retroauricular incision that is used in auricular reconstruction in microtia patients...
January 27, 2018: Clinical Otolaryngology
https://www.readbyqxmd.com/read/29357927/targeted-reversion-of-induced-pluripotent-stem-cells-from-patients-with-human-cleidocranial-dysplasia-improves-bone-regeneration-in-a-rat-calvarial-bone-defect-model
#19
Akiko Saito, Akio Ooki, Takashi Nakamura, Shoko Onodera, Kamichika Hayashi, Daigo Hasegawa, Takahito Okudaira, Katsuhito Watanabe, Hiroshi Kato, Takeshi Onda, Akira Watanabe, Kenjiro Kosaki, Ken Nishimura, Manami Ohtaka, Mahito Nakanishi, Teruo Sakamoto, Akira Yamaguchi, Kenji Sueishi, Toshifumi Azuma
BACKGROUND: Runt-related transcription factor 2 (RUNX2) haploinsufficiency causes cleidocranial dysplasia (CCD) which is characterized by supernumerary teeth, short stature, clavicular dysplasia, and osteoporosis. At present, as a therapeutic strategy for osteoporosis, mesenchymal stem cell (MSC) transplantation therapy is performed in addition to drug therapy. However, MSC-based therapy for osteoporosis in CCD patients is difficult due to a reduction in the ability of MSCs to differentiate into osteoblasts resulting from impaired RUNX2 function...
January 22, 2018: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29354746/the-genetic-implication-of-scoliosis-in-osteogenesis-imperfecta-a-review
#20
REVIEW
Gang Liu, Jia Chen, Yangzhong Zhou, Yuzhi Zuo, Sen Liu, Weisheng Chen, Zhihong Wu, Nan Wu
Osteogenesis imperfecta (OI) is a kind of heritable connective tissue disorder, including blue sclerae, hearing loss, skeletal dysplasia causing bone fragility and deformities. It is typically caused by collagen related gene mutations, which could lead to bone formation abnormalities. Scoliosis is one of the most common and severe spinal phenotype which has been reported in approximately 26-74.5% of all OI patients. Recent breakthroughs have suggested that OI can be divided into more than 16 types based on genetic mutations with different degrees of scoliosis...
December 2017: Journal of Spine Surgery (Hong Kong)
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