keyword
MENU ▼
Read by QxMD icon Read
search

bone dysplasias

keyword
https://www.readbyqxmd.com/read/27923623/staged-total-knee-arthroplasty-for-bilateral-complex-knee-deformities-from-kashin-beck-disease-and-skeletal-dysplasia
#1
Ming Ling, Xueyuan Wu, Yanhai Chang, Xianghui Dong, Zhengming Sun, Li Ling, Shixun Wu, Bo Yang
This study reported two cases of patients with Grade III Kashin-Beck disease (KBD) with skeletal dysplasia concomitant with complex knee deformity and functional limitation treated by staged total knee arthroplasty (TKA). Detailed pre-operative planning, bone resection, and soft tissue balancing in affected knees were performed in the surgeries in this report. The results demonstrated that TKA could correct lower limb alignment, alleviate knee pain, improve function, and provide good quality of life in people with KBD...
December 3, 2016: Knee
https://www.readbyqxmd.com/read/27923602/patient-specific-chondrolabral-contact-mechanics-in-patients-with-acetabular-dysplasia-following-treatment-with-peri-acetabular-osteotomy
#2
Christine L Abraham, Spencer J Knight, Christopher L Peters, Jeffrey A Weiss, Andrew E Anderson
OBJECTIVE: Using a validated, patient-specific finite element (FE) modeling protocol, we evaluated cartilage and labrum (i.e. chondrolabral) mechanics before and after peri-acetabular osteotomy (PAO) to provide insight into the ability of this procedure to improve mechanics in dysplastic hips. DESIGN: Five patients with acetabular dysplasia were recruited in this case-controlled, prospective study. Models, which included anatomy for bone, cartilage, and labrum, were generated from computed tomography arthrography scans acquired before and after PAO...
December 3, 2016: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/27922965/prevalence-of-different-forms-and-involved-bones-of-craniofacial-fibrous-dysplasia
#3
Liya Yang, Huanhuan Wu, Jianjian Lu, Li Teng
BACKGROUND: The purposes of this study were to analyze the prevalence of various craniofacial bones involved in patients with craniofacial fibrous dysplasia (CFD) and to demonstrate the most common form and bone involvement in patients with CFD for surgeons. METHODS: To address the research purpose, the authors designed and performed a systematic review with meta-analysis. A comprehensive electronic search without date was performed in August 2013. Data extracted from the previously published literature were analyzed with STATA 11...
December 5, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27920870/pyle-disease-metaphyseal-dysplasia-presenting-in-two-adult-sisters
#4
Diego Ximenes Soares, Amália Mapurunga Almeida, André Rodrigues Façanha Barreto, Ilze Jucá Alencar E Silva, José Daniel Vieira de Castro, Francisco José Magalhães Pinto, Daniel Aguiar Dias, Lindenberg Barbosa Aguiar
Pyle's disease is an extremely rare skeletal disorder characterized by a benign course and an autosomal recessive genetic pattern of inheritance. Its causal mutation is still unknown. In the medical literature, fewer than 30 cases have been described to date. We report the case of two female siblings, daughters of consanguineous parents, referred to the radiology department complaining of genu valgum. Laboratory tests showed no other relevant findings. Conventional radiography plain films revealed Erlenmeyer flask deformity in bilateral femorotibial metaphyses, metaphyseal flaring of long bones, and mild sclerosis of the skull base...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27914223/osteogenesis-imperfecta-new-genes-reveal-novel-mechanisms-in-bone-dysplasia
#5
REVIEW
Heeseog Kang, A C S Aryal, Joan C Marini
Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by fragile bones and short stature and known for its clinical and genetic heterogeneity which is now understood as a collagen-related disorder. During the last decade, research has made remarkable progress in identifying new OI-causing genes and beginning to understand the intertwined molecular and biochemical mechanisms of their gene products. Most cases of OI have dominant inheritance. Each new gene for recessive OI, and a recently identified gene for X-linked OI, has shed new light on its (often previously unsuspected) function in bone biology...
November 19, 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/27904825/can-acetazolamide-be-used-to-treat-diseases-involving-increased-bone-mineral-density
#6
Juan David González-Rodríguez, María Isabel Luis-Yanes, Esther Inglés-Torres, Pedro Arango-Sancho, José Eugenio Cabrera-Sevilla, María Rosario Duque-Fernández, Salvador Gil-Sánchez, Víctor Manuel García-Nieto
Sclerosing bone dysplasias are a series of clinically and genetically heterogeneous diseases characterized by functional failure of the osteoclasts in bone resorption, leading to an excessive amount of bone mineral density (BMD) which could have serious clinical consequences. We treated three children affected with seriously high levels of BMD with acetazolamide, with the intention of inducing metabolic acidosis, thus increasing bone resorption and reducing BMD. All our patients tolerated and followed the treatment well and the clinical response was satisfactory in all cases...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27894323/health-related-quality-of-life-and-a-cost-utility-simulation-of-adults-in-the-uk-with-osteogenesis-imperfecta-x-linked-hypophosphatemia-and-fibrous-dysplasia
#7
Lydia Forestier-Zhang, Laura Watts, Alison Turner, Harriet Teare, Jane Kaye, Joe Barrett, Cyrus Cooper, Richard Eastell, Paul Wordsworth, Muhammad K Javaid, Rafael Pinedo-Villanueva
BACKGROUND: Health-related quality of life of adults with osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH) remains poorly described. The aim of this study was to describe the HRQoL of adults with osteogenesis imperfecta, fibrous dysplasia and X-linked hypophophataemia and perform a cost-utility simulation to calculate the maximum cost that a health care system would be willing to pay for a hypothetical treatment of a rare bone disease. RESULTS: Participants completed the EQ-5D-5 L questionnaire between September 2014 and March 2016...
November 28, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27893558/medial-femoral-condyle-free-flap-for-premaxillary-reconstruction-in-median-facial-dysplasia
#8
Jong Woo Choi, Woo Shik Jeong, Soon Man Kwon, Kyung S Koh
OBJECTIVE: Median facial dysplasia is a distinct development anomaly of the craniofacial region that is characterized by deficient mid facial structures. Medial femoral condyle free flap could be used as a bony flap, and the unique characteristics of this flap provide the surgeons with the periosteal component as well. In this work, the authors present our experience with a patient of median facial dysplasia with unilateral cleft lip, cleft palate, and premaxillary deficiency. METHODS: The patient was diagnosed with median facial dysplasia accompanied by unilateral cleft lip, cleft palate, and premaxillary...
November 23, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27871115/abnormal-proteoglycan-synthesis-due-to-gene-defects-causes-skeletal-diseases-with-overlapping-phenotypes
#9
F Taylan, O Mäkitie
In recent years, massively parallel sequencing technologies have helped us to identify novel disease genes and solve the mysteries behind rare diseases. Today, we know that some diseases with many overlapping and distinct clinical features, as presented in this review, can be caused by mutations in genes that encode enzymes playing crucial roles at different steps of the exact same pathway. In this review, we exclusively focused on 5 genes - XYLT1, XYLT2, B4GALT7, B3GALT6, and B3GAT3 - that encode enzymes involved in the biosynthesis of the common tetrasaccharide linker region of proteoglycans and review the associated diseases, also referred to as linkeropathies, by summarizing the cases reported in literature...
November 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27870580/clinical-characterization-of-patients-with-autosomal-dominant-short-stature-due-to-aggrecan-mutations
#10
Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski, Melissa Crocker, Jessica Douglas, Nancy Dunbar, Jan Fairchild, Mariana F A Funari, Karen E Heath, Alexander A L Jorge, Tracey Kurtzman, Stephen LaFranchi, Seema Lalani, Jan Lebl, Yuezhen Lin, Evan Los, Dorothee Newbern, Catherine Nowak, Micah Olson, Jadranka Popovic, Štěpánka Průhová, Lenka Elblova, Jose Bernardo Quintos, Emma Segerlund, Lucia Sentchordi, Marwan Shinawi, Eva-Lena Stattin, Jonathan Swartz, González-Del Angel Ariadna, Díaz-Cuéllar Sinhué, Hidekazu Hosono, Pedro A Sanchez-Lara, Vivian Hwa, Jeffrey Baron, Ola Nilsson, Andrew Dauber
CONTEXT: Heterozygous mutations in the Aggrecan gene (ACAN) cause autosomal dominant short stature with bone age (BA) acceleration, premature growth cessation and minor skeletal abnormalities. OBJECTIVE: Characterize the phenotypic spectrum, associated conditions and response to growth-promoting therapies. DESIGN: Retrospective international cohort study. PATIENTS: Information from 103 individuals (57 female, 46 male) from 20 families with confirmed heterozygous ACAN mutations were included...
November 21, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27870069/suspected-myelodysplastic-myeloproliferative-neoplasm-in-a-feline-leukemia-virus-negative-cat
#11
Amy L Weeden, Kyle R Taylor, Scott P Terrell, Alexander E Gallagher, Heather L Wamsley
A 10-year-old castrated Domestic Short-Haired cat was presented to a primary care veterinarian for a wellness examination and laboratory examination for monitoring of diabetes mellitus. The CBC revealed marked thrombocytosis, leukopenia and macrocytic, normochromic anemia. The cat tested negative for FeLV and feline immunodeficiency virus, but was positive for Mycoplasma haemominutum by PCR. Hematologic abnormalities were not responsive to therapy, so a repeat CBC and a bone marrow aspiration for cytology were performed...
November 21, 2016: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/27862258/raine-syndrome-omim-259775-caused-by-fam20c-mutation-is-congenital-sclerosing-osteomalacia-with-cerebral-calcification-omim-259660
#12
Michael P Whyte, William H McAlister, Michael D Fallon, Mary Ella Pierpont, Vinieth N Bijanki, Shenghui Duan, Ghada A Otaify, William S Sly, Steven Mumm
In 1985, we briefly reported infant sisters with a unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification. In 1986, this condition was entered into Mendelian Inheritance In Man (MIM) as osteomalacia, sclerosing, with cerebral calcification (MIM 259660). However, no attestations followed. Instead, in 1989 Raine and colleagues published an affected neonate considering unprecedented the striking clinical and radiographic features. In 1992, "Raine syndrome" entered MIM formally as osteosclerotic bone dysplasia, lethal (MIM #259775)...
November 10, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27857528/mccune-albright-syndrome-association-of-fibrous-dysplasia-caf%C3%A3-au-lait-skin-spots-and-hyperthyroidism-case-report
#13
Iulian Raus, Roxana Elena Coroiu
McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations...
2016: Clujul Medical (1957)
https://www.readbyqxmd.com/read/27837399/reconstruction-of-the-shallow-acetabulum-with-a-combination-of-autologous-bulk-and-impaction-bone-grafting-fixed-by-cement
#14
Masaaki Maruyama, Shinji Wakabayashi, Hiroshi Ota, Keiji Tensho
BACKGROUND: Acetabular bone deficiency, especially proximal and lateral deficiency, is a difficult technical problem during primary total hip arthroplasty (THA) in developmental dysplasia of the hip (DDH). We report a new reconstruction method using a medial-reduced cemented socket and additional bulk bone in conjunction with impaction morselized bone grafting (additional bulk bone grafting method). QUESTIONS/PURPOSES: In a population of patients with acetabular dysplasia undergoing THA using a medial-reduced cemented socket and additional bulk bone with impacted morselized bone grafting, we evaluated (1) the radiographic appearance of bone graft; (2) the proportion of cups that developed loosening and subsequent revision; and (3) clinical results (outcome scores and complications)...
November 11, 2016: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/27836678/finite-element-analysis-of-mechanical-behavior-of-human-dysplastic-hip-joints-a-systematic-review
#15
REVIEW
B Vafaeian, D Zonoobi, M Mabee, A R Hareendranathan, M El-Rich, S Adeeb, J L Jaremko
Developmental dysplasia of the hip (DDH) is a common condition predisposing to osteoarthritis (OA). Especially since DDH is best identified and treated in infancy before bones ossify, there is surprisingly a near-complete absence of literature examining mechanical behavior of infant dysplastic hips. We sought to identify current practice in finite element modeling (FEM) of DDH, to inform future modeling of infant dysplastic hips. We performed multi-database systematic review using PRISMA criteria. Abstracts (n = 126) fulfilling inclusion criteria were screened for methodological quality, and results were analyzed and summarized for eligible articles (n = 12)...
November 9, 2016: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/27833730/general-diseases-influence-on-peri-implantitis-development-a-systematic-review
#16
REVIEW
Zygimantas Guobis, Ingrida Pacauskiene, Inesa Astramskaite
OBJECTIVES: To systematically review the influence of systemic diseases or medications used in their treatment on the dental implant therapy success. MATERIAL AND METHODS: The search strategy was implemented on the National Library of Medicine database (MEDLINE) (Ovid) and EMBASE electronic databases between January 2006 and January 2016. Human studies with available English articles analysing the relationship between dental implant therapy success and systemic diseases, such as diabetes mellitus, AIDS/HIV, rheumatoid arthritis, osteoporosis, Crohn's disease, cardiovascular diseases, scleroderma, Sjögren's syndrome, lichen planus, ectodermal dysplasia, post-transplantation status, were included in present review according to the PRISMA guidelines...
July 2016: Journal of Oral & Maxillofacial Research
https://www.readbyqxmd.com/read/27833291/a-case-report-of-acampomelic-campomelic-dysplasia-and-operative-difficulties-in-cleft-palate-reconstruction
#17
M Pasupathy, Vasant Radhakrishnan, Hirji Sorab Adenwalla, Puthucode V Narayanan
Acampomelic campomelic dysplasia (CD) is a type of CD (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism and is due to mutations in SOX9 gene family. Characteristic phenotypes of CD include bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate and micrognathia. The bending of the long bones is not an obligatory feature and is absent in about 10% of cases, referred to as acampomelic CD...
May 2016: Indian Journal of Plastic Surgery: Official Publication of the Association of Plastic Surgeons of India
https://www.readbyqxmd.com/read/27829680/identification-of-a-novel-lrrk1-mutation-in-a-family-with-osteosclerotic-metaphyseal-dysplasia
#18
Long Guo, Katta M Girisha, Aritoshi Iida, Malavika Hebbar, Anju Shukla, Hitesh Shah, Gen Nishimura, Naomichi Matsumoto, Shifa Nismath, Noriko Miyake, Shiro Ikegawa
Osteosclerotic metaphyseal dysplasia (OSMD) is a rare skeletal dysplasia characterized by osteosclerotic metaphyses with osteopenic diaphyses of the long tubular bones. Our previous study identified a homozygous elongation mutation in leucine-rich repeat kinase 1 gene (LRRK1) in a patient with OSMD and showed that Lrrk1 knockout mice exhibited phenotypic similarity with OSMD. Here we report a second LRRK1 mutation in Indian sibs with OSMD. They had homozygous mutation (c.5971_5972insG) that produces an elongated mutant protein (p...
November 10, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27826907/the-unstable-knee-in-congenital-limb-deficiency
#19
REVIEW
Gabriel T Mindler, Christof Radler, Rudolf Ganger
PURPOSE: Instability of the knee is a common finding in patients with congenital limb deficiency. The instability can be attributed to soft tissue abnormalities, frontal, sagittal or rotational deformity of the lower limb and bony dysplasia of the patella or of the femoral condyles. In most of the cases, these pathomorphologic changes stay asymptomatic in daily activity. However, instability can appear during deformity correction and bone-lengthening procedures, leading to flexion contracture or subluxation of the knee...
December 2016: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/27826699/a-unique-case-of-multiple-non-ossifying-fibromas-with-polyostotic-monomelic-distribution-and-aggressive-clinical-course
#20
Alessandro Corsi, Cristina Remoli, Mara Riminucci, Ernesto Ippolito, John Dimitriou
Multiple non-ossifying fibromas (MNOFs) occur either isolated or in association with other anomalies, are usually localized in the long bones of the lower limbs, may be radiographically confused with other skeletal lesions, and tend to heal spontaneously with the completion of the skeletal growth. Segmental distribution, either monomelic or polymelic and ipsilateral, is rare and commonly observed in the context of developmental diseases known as "RASopathies", which are caused by mutations in genes that encode components or regulators within the Ras/mitogen-activated protein kinase signaling pathway...
November 8, 2016: Skeletal Radiology
keyword
keyword
28838
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"