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https://www.readbyqxmd.com/read/29051881/fracture-management-in-pyknodysostosis-a-rare-case-report
#1
G Subramanya Gandhi, V Vijayanarasimhan, Lionel John, S Kailash, E Sathish Balaji
INTRODUCTION: Pyknodysostosis is congenital osteosclerotic skeletal dysplasia of a rare entity. It is an autosomal recessive disease which presents with short stature and generalized osteosclerosis of skeleton as result of decreased bone turnover. Here, the authors report a case of pyknodysostosis who presented to our emergency room with a pathological fracture in the shaft of the femur for which operative intervention was carried out. CASE REPORT: A 30-year-old female presented to our emergency room with a history of trivial injury to right thigh region and was diagnosed as fracture in her right femur shaft region...
May 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29040558/constitutively-active-fgfr3-disrupts-primary-cilium-length-and-ift20-trafficking-in-various-chondrocyte-models-of-achondroplasia
#2
Ludovic Martin, Nabil Kaci, Valentin Estibals, Nicolas Goudin, Meriem Garfa-Traore, Catherine Benoist-Lasselin, Emilie Dambroise, Laurence Legeai-Mallet
FGFR3 (fibroblast growth factor receptor 3) gain-of-function mutations cause dwarfisms, including achondroplasia (ACH) and thanatophoric dysplasia (TD). The constitutive activation of FGFR3 disrupts the normal process of skeletal growth. Bone-growth anomalies have been identified in skeletal ciliopathies, in which primary cilia (PC) function is disrupted. In human ACH and TD, the impact of FGFR3 mutations on PC in growth plate cartilage remains unknown. Here we showed that in chondrocytes from human (ACH, TD) and mouse Fgfr3Y367C/+ cartilage, the constitutively-active FGFR3 perturbed PC length and the sorting and trafficking of IFT20 to the PC...
October 4, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29035398/risks-factors-and-timing-of-genital-human-papillomavirus-hpv-infection-in-female-stem-cell-transplant-survivors-a-longitudinal-study
#3
D Shanis, P Anandi, C Grant, A Bachi, N Vyas, M A Merideth, P A Pophali, E Koklanaris, S Ito, B N Savani, A J Barrett, M Battiwalla, P Stratton
This longitudinal single-center study describes the timing and risk factors for genital human papillomavirus (HPV) disease in women after allogeneic hematopoietic cell transplantation (HCT). Between 1994 and 2014, 109 females underwent HCT of whom 82 surviving transplant for >1 year had regular, comprehensive genital tract assessment and treatment of HPV disease. The cumulative proportions of any genital HPV infection at 1, 3, 5, 10 and 20 years were 4.8%, 14.9%, 28.1%, 36.7% and 40.9%, respectively. Demographic, disease-related factors, chronic GvHD (cGvHD) and its treatment were analyzed for their association with persistent, multifocal or severe genital HPV disease...
October 16, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/29025689/soho-state-of-the-art-update-and-next-questions-biology-and-treatment-of-myelodysplastic-syndromes
#4
REVIEW
David A Sallman, Tiffany N Tanaka, Alan List, Rafael Bejar
Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid neoplasms characterized by clonal hematopoiesis leading to bone marrow dysplasia and cytopenias. Recently, significant advancements have been made in understanding the pathogenic mechanisms of this disease. In particular, how a wide array of somatic mutations can induce a common clinical phenotype has been investigated. Specifically, activation of innate immune signaling (i.e. myeloid derived suppressor cells) and the NLRP3 inflammasome in hematopoietic stem/progenitor cells play a central role in the biology of MDS, leading to pyroptotic cell death and clonal expansion...
October 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/29022055/illness-perceptions-are-associated-with-quality-of-life-in-patients-with-fibrous-dysplasia
#5
B C J Majoor, C D Andela, C R Quispel, M Rotman, P D S Dijkstra, N A T Hamdy, A A Kaptein, N M Appelman-Dijkstra
Fibrous dysplasia (FD) is a rare bone disorder in which normal bone is replaced by fibrous tissue resulting in pain, deformities, pathological fractures or asymptomatic disease. Illness perceptions are patients' cognitions and emotions about their illness and its treatment, which may impact on Quality of Life (QoL). Here, we explore illness perceptions in patients with FD compared to other disorders, identify factors associated with illness perceptions and evaluate their relationship with QoL. Ninety-seven out of 138 eligible patients from the LUMC FD cohort completed the Illness Perception Questionnaire-Revised (IPQ-R) and the Short Form-36 (SF-36)...
October 11, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29021887/a-modified-technique-of-fixation-for-proximal-femoral-valgus-osteotomy-in-abnormal-bone-a-report-of-two-cases
#6
S Logheswaren, A R Sulaiman, I Munajat
The ideal size of intramedullary device to fix corrective osteotomy of proximal femur in abnormal bone in children and small patients may not be easily available. We report the successful use of Rush rod in combination with multiple Kirschner wires to fix the corrective osteotomy of coxa vara and shepherd crook deformity in two patients with osteogenesis imperfecta and fibrous dysplasia. The union was achieved on time, neck shaft angle and rotation were maintained.
July 2017: Malaysian Orthopaedic Journal
https://www.readbyqxmd.com/read/29021519/bone-marrow-mononuclear-cells-transplantation-in-treatment-of-established-bronchopulmonary-dysplasia-a-case-report
#7
Nguyen Thanh Liem, Tran Lien Anh, Trieu T Hong Thai, Bui Viet Anh
BACKGROUND Bronchopulmonary dysplasia (BDP) is an incurable disease. This study reports the successful treatment of a 30-week-old neonate with established bronchopulmonary dysplasia by bone marrow mononuclear cells (BM MNCs) transplantation. CASE REPORT The preterm infant with BPD requiring continuous oxygen administration for 4 months post-delivery underwent BM MNCs. Bone marrow was obtained from the patient's iliac crests and mononuclear cells were isolated by density gradient centrifugation method. BM MNCs were delivered via endotracheal and intravenous routes...
October 12, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29018910/incidence-of-delayed-union-one%C3%A2-year-after-peri-acetabular-osteotomy-based-on-computed-tomography
#8
Shunsuke Akiho, Koichi Kinoshita, Ayumi Matsunaga, Satohiro Ishii, Hajime Seo, Jun Nishio, Takuaki Yamamoto
BACKGROUND: Pubic bone nonunion and delayed union are reported as post-operative complications after peri-acetabular osteotomy (PAO). However, few studies have determined the incidence of delayed union using computed tomography (CT) scans. This study aimed to determine the incidence of delayed union at one year after PAO using X-ray and CT scans. METHODS: We performed a retrospective review of 150 hips in 132 consecutive patients with acetabular dysplasia who underwent PAO between January 2012 and June 2016 and evaluated 107 hips for which pelvic CT scans taken at one year after PAO were available...
October 10, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28990699/a-novel-amer1-frameshift-mutation-in-a-girl-with-osteopathia-striata-with-cranial-sclerosis
#9
Yumi Enomoto, Yoshinori Tsurusaki, Noriaki Harada, Noriko Aida, Kenji Kurosawa
Osteopathia striata with cranial sclerosis (OSCS) (MIM #300373) is a rare X-linked dominant bone dysplasia characterized by cranial sclerosis and linear striations in the long bones of females, and fetal or neonatal lethality in affected males.
October 9, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28983616/abnormal-expression-levels-of-bmp15-smad1-are-associated-with-granulosa-cell-apoptosis-in-patients-with-polycystic-ovary-syndrome
#10
Xiangrong Cui, Xuan Jing, Xueqing Wu, Xingyu Bi, Junfen Liu, Zhijing Long, Xiuping Zhang, Dongdong Zhang, Hongxiang Jia, Dan Su, Kai Huo
Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects reproductive dysfunction and metabolism in women of childbearing age. An increasing number of studies have suggested that the bone morphogenetic protein 15 (BMP15) signalling pathway serves an important role in the pathogenesis of PCOS; however, the full mechanism remains unknown. The present study revealed that intrinsic follicular dysplasia may be associated with regulation disorders of ovarian granulosa cell apoptosis. Compared with the control group, body mass index, luteinising hormone and testosterone levels were significantly increased (P<0...
September 28, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28974509/resolution-of-acute-hepatitis-b-associated-aplastic-anaemia-with-antiviral-therapy
#11
Nicholas Hendren, Joseph Moore, Sandra Hofmann, Siayareh Rambally
A previously healthy 44-year-old woman presented with 3 days of worsening petechial rash, epistaxis and fatigue. Admission labs revealed pancytopenia, low reticulocyte index and elevated liver enzymes. Bone marrow biopsy demonstrated a profoundly hypocellular bone marrow without dysplasia and additional testing demonstrated an acute hepatitis B infection. In the context of an acute hepatitis B infection, elevated liver enzymes and aplastic anaemia, our patient was diagnosed with severe hepatitis-associated aplastic anaemia due to an acute hepatitis B infection...
October 3, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28973168/activating-the-unfolded-protein-response-in-osteocytes-causes-hyperostosis-consistent-with-craniodiaphyseal-dysplasia
#12
Wilson Cheuk Wing Chan, Kwok Yeung Tsang, Yin Wo Cheng, Vivian Chor Wing Ng, Halina Chik, Zhi Jia Tan, Raymond Boot-Handford, Alan Boyde, Kenneth Man Chee Cheung, Kathryn Song Eng Cheah, Danny Chan
Bone remodeling is a balanced process between bone synthesis and degradation, maintaining homeostasis and a constant bone mass in adult life. Imbalance will lead to conditions such as osteoporosis or hyperostosis. Osteoblasts build bone, becoming embedded in bone matrix as mature osteocytes. Osteocytes have a role in sensing and translating mechanical loads into biochemical signals, regulating the differentiation and activity of osteoblasts residing at the bone surface through the secretion of Sclerostin (SOST), an inhibitor of WNT signaling...
August 29, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28969815/the-influence-of-squat-kinematics-and-cam-morphology-on-acetabular-stress
#13
Jennifer J Bagwell, Christopher M Powers
PURPOSE: To evaluate the effect of varying degrees of simulated cam morphology on acetabular stress magnitude and location using a finite element model with 1 subject that incorporates population-specific hip/pelvis kinematics during a squat task. METHODS: A reference model of the hip joint was created from magnetic resonance images obtained from 1 asymptomatic 28-year-old man without femoroacetabular impingement (FAI) morphology or hip dysplasia (alpha angle 41...
October 2017: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/28968889/bone-involvement-in-monogenic-autoinflammatory-syndromes
#14
Brigitte Bader-Meunier, Erika Van Nieuwenhove, Sylvain Breton, Carine Wouters
Until recently the most common autoinflammatory diseases (AIDs) associated with bone disease in childhood included a few genetically complex (chronic non-bacterial osteomyelitis, synovitis, acne, pustulosis, hyperostosis and osteitis syndrome) and monogenic (Majeed syndrome, deficiency of IL-1 receptor antagonist, cherubism) AIDs. However, the spectrum of monogenic AIDs associated with bone manifestations has markedly expanded to include both recently identified diseases such as the type I interferonopathies and also newly recognized bone dysplasias in already established AIDs...
August 22, 2017: Rheumatology
https://www.readbyqxmd.com/read/28966816/natural-history-of-cranial-fibrous-dysplasia-revealed-during-long-term-follow-up-case-report-and-literature-review
#15
David L Penn, Richard J Tartarini, Carolyn H Glass, Umberto De Girolami, Amir A Zamani, Ian F Dunn
BACKGROUND: Fibrous dysplasia (FD) is a rare developmental disease characterized by the replacement of bone marrow with proliferating fibro-osseous tissue. There exist three forms of FD-monostotic, polyostotic, and that associated with McCune-Albright syndrome. The disease can present in different locations and with a variety of symptoms. One of the more common locations of FD occurrence is the craniofacial region. Treatment of asymptomatic FD often involves conservative management with serial imaging...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28965976/the-presence-of-diminished-white-matter-and-corpus-callosal-thinning-in-a-case-with-a-sox9-mutation
#16
Ayumi Matsumoto, Eri Imagawa, Noriko Miyake, Takahiro Ikeda, Mizuki Kobayashi, Masahide Goto, Naomichi Matsumoto, Takanori Yamagata, Hitoshi Osaka
SOX9 is responsible for campomelic dysplasia (CMPD). Symptoms of CMPD include recurrent apnea, upper respiratory infection, facial features, and shortening of the lower extremities. The variant acampomelic CMPD (ACMPD) lacks long bone curvature. A patient showed macrocephaly (+3.9 standard deviations [SD]) and minor anomalies, such as hypertelorism, palpebronasal fold, small mandible, and a cleft of soft palate without long bone curvature. From three months of age, he required tracheal intubation and artificial respiration under sedation because of tracheomalacia...
September 28, 2017: Brain & Development
https://www.readbyqxmd.com/read/28965204/dental-manifestations-of-pediatric-bone-disorders
#17
REVIEW
Juan F Yepes
PURPOSE OF REVIEW: Several bone disorders affecting the skeleton often are manifest in the maxillofacial region. This review presents the most common bone disorders in children and their dental-oral manifestations: fibrous dysplasia, Paget's disease, osteogenesis imperfecta, renal osteodystrophy, hypophosphatasia, and osteoporosis. The specific intraoral characteristics will reviewed in detail. RECENT FINDINGS: Recent studies confirmed the close relationship between the mandible and the maxilla with the most prevalent systemic bone disorders in children...
September 30, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28964668/multidisciplinary-team-approach-in-the-oral-rehabilitation-of-patients-with-cleidocranial-dysplasia-to-achieve-a-functional-aesthetic-outcome
#18
D Patel, N Patel, P A Brennan, J Kwok
Cleidocranial dysplasia is a hereditary congenital disorder that results in delayed ossification of midline structures, and is caused by mutations in the RunX2 (runt-related transcription factor 2) gene located on the short arm of chromosome 6. Successful treatment depends on multidisciplinary assessment and a comprehensive staged treatment plan. We present a case series of 12 patients who were managed with a specifically tailored combination of surgery, orthodontics, and prosthodontics to provide a functional dentition and restore their smile and facial contour...
September 27, 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/28964289/three-dimensional-assessment-of-the-temporal-bone-and-mandible-deformations-in-patients-with-congenital-aural-atresia
#19
Yaoyao Fu, Chenlong Li, Peidong Dai, Tianyu Zhang
OBJECTIVE: To investigate the deformations of temporal bone and mandible combined with congenital aural atresia. METHODS: A total of 158 patients with congenital aural atresia were included in the study. The raw CT data of the temporal bone was imported into MIMICS v 12 and threshold dissection, region growing and three-dimensional (3D) calculation were used to calculate 3D models. The 3D characteristics of the temporal bone and upper part of mandible were assessed...
October 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28963390/acromegaly-with-hypophosphataemia-mccune-albright-syndrome
#20
Rimesh Pal, Pinaki Dutta, Kanchan Kumar Mukherjee, Anil Bhansali
A 38-year-old man presented with excessive height gain and progressive enlargement of the extremities since childhood. This was compounded by lower limb deformities over the past 5 years. On examination, his height was 196 cm, he had macroglossia, acral enlargement, seborrhoea, hyperhidrosis-suggesting acrogigantism. He had facial asymmetry, wind-swept deformity of lower limbs and a café-au-lait macule over his trunk. Investigations revealed normal-sized pituitary gland with dysplastic cranial bones. Isotope bone scintigraphy was suggestive of polyostotic fibrous dysplasia...
September 28, 2017: BMJ Case Reports
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