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https://www.readbyqxmd.com/read/28334704/combining-real-time-cold-and-mama-pcr-taqman-techniques-to-detect-and-quantify-r201-gnas-mutations-in-the-mccune-albright-syndrome%C3%A2
#1
Luisa de Sanctis, Ilaria Galliano, Paola Montanari, Patrizia Matarazzo, Daniele Tessaris, Massimiliano Bergallo
BACKGROUND/AIM: The McCune-Albright syndrome (MAS) is a potentially severe disorder hallmarked by fibrous bone dysplasia, café-au-lait skin spots, and endocrine hyperfunction. It is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicism. Our aim was to improve the mutation detection rate and to quantify the presence of R201 GNAS mutations in different DNA samples from MAS patients. METHODS: Real-time COLD- and MAMA-PCR TaqMan techniques were combined to search for R201 mutations in the DNA of blood or affected tissues from 16 previously molecularly characterized MAS patients, from a further 84 subjects with MAS signs who were R201 negative at RFLP analysis, and from 36 controls...
March 23, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28332125/osteoarthritis-of-the-hip-joint-in-elderly-patients-is-most-commonly-atrophic-with-low-parameters-of-acetabular-dysplasia-and-possible-involvement-of-osteoporosis
#2
Yasuhiro Ishidou, Kanehiro Matsuyama, Daisuke Sakuma, Takao Setoguchi, Satoshi Nagano, Ichiro Kawamura, Shingo Maeda, Setsuro Komiya
As elderly patients with hip osteoarthritis aged, acetabular dysplasia parameters decreased (Sharp's angle, acetabular roof obliquity angle, and acetabular head index) and the incidence of the atrophic type increased. Vertebral body fracture was more frequent in the atrophic type, suggesting the involvement of osteoporosis at the onset of hip osteoarthritis. INTRODUCTION: Osteoarthritis (OA) is associated with increased bone formation at a local site. However, excessive bone resorption has also been found to occur in the early stages of OA...
December 2017: Archives of Osteoporosis
https://www.readbyqxmd.com/read/28330577/-custom-made-implant-for-complex-facial-reconstruction-a-case-of-total-replacement-of-temporo-mandibular-joint-zygomatic-arch-and-malar-bone
#3
D Guillier, V Moris, L-A See, M Girodon, B-L Wajszczak, N Zwetyenga
INTRODUCTION: Total prosthetic replacement of the temporo-mandibular joint (TMJ) has become a common procedure, but it is usually limited to the TMJ itself. We report about one case of complex prosthetic joint reconstruction extending to the neighbouring bony structures. CASE: A 57-year-old patient, operated several times for a cranio-facial fibrous dysplasia, presented with a recurring TMJ ankylosis and a complexe latero-facial bone loss on the right side. We performed a reconstruction procedure including the TMJ, the zygomatic arch and the malar bone by mean of custom made composite prosthesis (chrome-cobalt-molybdenum-titanium and polyethylene)...
February 2017: J Stomatol Oral Maxillofac Surg
https://www.readbyqxmd.com/read/28329564/polydactyly-in-neurofibromatosis-type-i-a-potential-clue-to-diagnosis
#4
Kate L Kimes, Marie J Han, Patrick J Brown
Neurofibromatosis type 1 is a genetic disorder characterized by variable phenotypic manifestations. The diagnostic criteria, 25 established in 1987, are broad to encompass these pleiotropic findings. Included are the specific osseous manifestations of 26 sphenoid dysplasia and dysplasia or thinning of the cortex of long bones. This review highlights recent evidence on the role of 27 neurofibromin in bone development and suggests consideration for additional diagnostic criteria.
November 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28328823/a-case-report-of-pycnodysostosis-with-atypical-femur-fracture-diagnosed-by-next-generation-sequencing-of-candidate-genes
#5
Hyung Keun Song, Young Bae Sohn, Yong Jun Choi, Yoon-Sok Chung, Ja-Hyun Jang
RATIONALE: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, craniofacial dysmorphism, acro-osteolysis, osteosclerosis, and brittle bone with poor healing. Pycnodysostosis results from the deficient activity of cathepsin K, a lysosomal cysteine protease that is encoded by CTSK. PATIENT CONCERNS: We report a Korean adult patient with pycnodysostosis and atypical femur fracture whose diagnosis was confirmed by next-generation sequencing (NGS) of candidate genes...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28326425/bilateral-pelvic-discontinuity-a-unique-condition-characterized-by%C3%A2-high-failure-rates-of-current-treatment
#6
John R Martin, Ian Barrett, Rafael J Sierra, David G Lewallen, Daniel J Berry
BACKGROUND: Bilateral pelvic discontinuity is characterized by complete dissociation of the superior and inferior pelvis secondary to bone loss or fracture. The end result is a freely mobile inferior pelvis at the level of each discontinuity which presents a significant reconstruction challenge. This clinical entity has not been described previously, and the results of surgical treatment are not known. METHODS: We retrospectively reviewed all identified cases of pelvic discontinuity (PD) treated with revision THA at one institution...
December 2016: Arthroplasty Today
https://www.readbyqxmd.com/read/28326400/staged-total-hip-arthroplasty-in-a-patient-with-hip-dysplasia-and-a-large-pertrochanteric-bone-cyst
#7
Joseph R Langston, Alexander M DeHaan, Thomas W Huff
Hip arthroplasty in young patients requires thoughtful preoperative planning. Patients with proximal femoral bone loss complicate this planning and may require a staged procedure to optimize implant insertion. We report on a case of a 26-year-old woman with secondary hip arthritis from developmental dysplasia of the hip and a large pertrochanteric bone cyst that was treated with staged total hip arthroplasty. The cyst was decompressed and filled with an osteoconductive and osteoinductive bone graft substitute called EquivaBone...
June 2016: Arthroplasty Today
https://www.readbyqxmd.com/read/28326337/a-case-of-infantile-osteopetrosis-the-radioclinical-features-with-literature-update
#8
Tamer Ahmed El-Sobky, Ezzat Elsobky, Ismaiel Sadek, Solaf M Elsayed, Mohamed Fawzy Khattab
BACKGROUND: Osteopetrosis is a rare hereditary metabolic bone disorder characterized by generalized skeletal sclerosis caused by a defect in bone resorption and remodelling. Infantile autosomal recessive osteopetrosis is one of three subtypes of osteopetrosis and the most severe form. The correct and early diagnosis of infantile osteopetrosis is important for management of complications and for future genetic counselling. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable...
June 2016: Bone Reports
https://www.readbyqxmd.com/read/28325424/surgical-treatment-of-carpal-boss-by-simple-resection-results-in-25%C3%A2-cases-at-a-mean-of-8%C3%A2-years-follow-up
#9
S Roulet, G Bacle, E Marteau, J Laulan
Carpal boss is a symptomatic bony protrusion on the dorsal surface of the wrist at the base of the 2nd and/or 3rd metacarpal. The goal of this study was to assess the reliability and safety of simply resecting the exostosis. From 1994 to 2014, 29 cases of carpal boss were treated by simple resection. Twenty-five of these patients were subsequently assessed by telephone questionnaire at a mean of 8 years' follow-up (range 1.1 to 20 years). There were no cases of recurrence; however, 1 patient reported carpometacarpal instability requiring fusion, 5 years after surgery...
April 2017: Hand Surgery and Rehabilitation
https://www.readbyqxmd.com/read/28321190/skeletal-dysplasias-growing-therapy-for-growing-bones
#10
REVIEW
Angie C Jelin, Elizabeth O'Hare, Karin Blakemore, Eric B Jelin, David Valle, Julie Hoover-Fong
Skeletal dysplasias represent a large and diverse group of rare conditions affecting collagen and bone. They can be clinically classified based on radiographic and physical features, and many can be further defined at a molecular level (Bonafe et al., 2015). Early diagnosis is critical to proper medical management including pharmacologic treatment when available. Patients with severe skeletal dysplasias often have small chests with respiratory insufficiency or airway obstruction and require immediate intubation after birth...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28319505/18f-naf-pet-ct-in-extensive-melorheostosis-of-the-axial-and-appendicular-skeleton-with-soft-tissue-involvement
#11
Georgios Z Papadakis, Smita Jha, Timothy Bhattacharyya, Corina Millo, Tsang-Wei Tu, Ulas Bagci, Kostas Marias, Apostolos H Karantanas, Nicholas J Patronas
Melorheostosis is a rare, nonhereditary, benign, sclerotic bone dysplasia with no sex predilection, typically occurring in late childhood or early adulthood, which can lead to substantial functional morbidity, depending on the sites of involvement. We report on a patient with extensive melorheostosis in the axial and appendicular skeleton, as well as in the soft tissues, who was evaluated with whole-body F-NaF PET/CT scan. All melorheostotic lesions of the skeleton and of the ossified soft-tissue masses demonstrated intensely increased F-NaF activity, suggesting the application of this modality in assessing and monitoring the disease activity...
March 17, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28316857/progressive-pseudorheumatoid-dysplasia-or-jia
#12
Geetha Wickrematilake
Progressive pseudorheumatoid dysplasia (PPD) or spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare arthropathy of childhood involving the axial skeleton as well as small peripheral joints. A 10-year-old boy was referred by a general practitioner with pain and deformity in the fingers of hands and limping gait. There was no joint synovitis although the finger joints were bulky on examination with mild flexion deformity. Patient had exaggerated kyphosis and lumbar lordosis with pigeon chest and restricted hip joint movements...
2017: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/28303384/spinopelvic-parameter-changes-and-low-back-pain-improvement-due-to-femoral-neck-anteversion-in-patients-with-severe-unilateral-primary-hip-osteoarthritis-undergoing-total-hip-replacement
#13
Andrea Piazzolla, Giuseppe Solarino, Davide Bizzoca, Viola Montemurro, Pedro Berjano, Claudio Lamartina, Biagio Moretti
PURPOSE: The study of the interrelation between hip and spine disorders is gaining increasing importance in the last years, but the link between Hip Osteoarthritis (HOA) and Low Back Pain (LBP) remains still unclear. Aim of the study is to assess the relationship between Femoral Neck Anteversion (FNA), LBP, and spinopelvic parameters in patients undergoing Total Hip Replacement (THR) for unilateral severe primary HOA. MATERIALS AND METHODS: 91 patients were recruited...
March 16, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28303154/mesenchymal-stem-cell-administration-in-patients-with-chronic-obstructive-pulmonary-disease-state-of-the-science
#14
REVIEW
Shih-Lung Cheng, Ching-Hsiung Lin, Chao-Ling Yao
Patients with chronic obstructive pulmonary disease (COPD) have chronic, irreversible airway inflammation; currently, there is no effective or curative treatment and the main goals of COPD management are to mitigate symptoms and improve patients' quality of life. Stem cell based therapy offers a promising therapeutic approach that has shown potential in diverse degenerative lung diseases. Preclinical studies have demonstrated encouraging outcomes of mesenchymal stem/stromal cells (MSCs) therapy for lung disorders including emphysema, bronchopulmonary dysplasia, fibrosis, and acute respiratory distress syndrome...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28302454/craniofacial-fibrous-dysplasia-a-10-case-series
#15
A Couturier, O Aumaître, L Gilain, B Jean, T Mom, M André
OBJECTIVES: Fibrous dysplasia of bone is a rare sporadic benign congenital condition in which normal cancellous bone is replaced by fibro-osseous tissue with immature osteogenesis. Sarcomatous transformation is exceptional. Lesions may involve one bone (monostotic) or several (polyostotic). Fibrous dysplasia may be associated with café-au-lait skin macules and endocrinopathy in McCune-Albright syndrome, or with myxoma in Mazabraud's syndrome. METHODS: We report ten cases of patients followed up for craniofacial fibrous dysplasia in our center between 2010 and 2015...
March 14, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28301321/giant-parathyroid-adenoma-associated-with-severe-hypercalcemia-in-an-adolescent-patient
#16
Kinyas Kartal, Nurcihan Aygun, Mujdat Bankaoglu, Alper Ozel, Mehmet Uludag
BACKGROUND: The objective of this study is to bring attention to the importance of differential diagnosis in adolescent patients with skeletal involvement and hypercalcemia. CASE: A 17-year-old male patient with a complaint of severe leg pain was admitted to our hospital. Seven months before he had a fracture of his distal humerus after falling on to his left shoulder and was treated conservatively. Five months previously, he had a rupture of his quadriceps tendon...
March 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28300344/intramedullary-nailing-combined-with-bone-grafting-for-benign-lesions-of-the-proximal-femur
#17
Yan Zhang, Jia-Zhen Li, Xin-Chang Lu, Yi Zhang, Huai-Shuan Zhang, Hai-Long Shi, Zheng Lei, Guang Feng, Wei-Ping Fu
OBJECTIVE: To evaluate the effectiveness of intramedullary nailing for benign lesions of the proximal femur. METHOD: A retrospective analysis was carried out on 68 cases of benign lesions in the proximal femur at our hospital from April 2002 to April 2013 (38 men and 30 women). Mean age at surgery was 35.5 years (range, 22-56 years). The cases were divided into two groups: curettage of the lesion with bone grafting only as the grafting group (32 cases) and internal fixation after removal of the lesion as the fixation group (36 cases)...
March 16, 2017: Orthopaedic Surgery
https://www.readbyqxmd.com/read/28299327/minimum-lateral-bone-coverage-required-for-securing-fixation-of-cementless-acetabular-components-in-hip-dysplasia
#18
Masanori Fujii, Yasuharu Nakashima, Tetsuro Nakamura, Yoshihiro Ito, Toshihiko Hara
Objectives. To determine the minimum lateral bone coverage required for securing stable fixation of the porous-coated acetabular components (cups) in hip dysplasia. Methods. In total, 215 primary total hip arthroplasties in 199 patients were reviewed. The average follow-up period was 49 months (range: 24-77 months). The lateral bone coverage of the cups was assessed by determining the cup center-edge (cup-CE) angle and the bone coverage index (BCI) from anteroposterior pelvic radiographs. Further, cup fixation was determined using the modified DeLee and Charnley classification system...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28298997/tricho-dento-osseous-syndrome-and-precocious-eruption
#19
Parul Jain, Rahul Kaul, Subrata Saha, Subir Sarkar
Tricho-dento-osseous syndrome (TDO), an uncommon form of ectodermal dysplasia is an autosomal dominant genetic disorder which is characterized by inherited defects in tissues arising from epithelial-mesenchymal interaction. Genetic studies have revealed that it is caused by mutation in the DLX3 gene. TDO presents with a great phenotypic heterogeneity and studies have suggested that this heterogeneity is the result of environmental factors or other genetic modifiers. In this article, we report a case of TDO in which the child had typical clinical features of hair, teeth and bone defects, as seen in TDO...
March 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/28291651/challenges-in-total-hip-arthroplasty-in-the-setting-of-developmental-dysplasia-of-the-hip
#20
Eric M Greber, Christopher E Pelt, Jeremy M Gililland, Mike B Anderson, Jill A Erickson, Christopher L Peters
BACKGROUND: Developmental dysplasia of the hip (DDH) is a recognized cause of secondary arthritis, which may eventually lead to total hip arthroplasty (THA). An understanding of the common acetabular and femoral morphologic abnormalities will aid the surgeon in preparing for the complexity of the surgical case. METHODS: We present the challenges associated with acetabular and femoral morphologies that may be present in the dysplastic hip and discuss surgical options to consider when performing THA...
February 22, 2017: Journal of Arthroplasty
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