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osteomyelitis; gene

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https://www.readbyqxmd.com/read/28592808/snx10-gene-mutation-leading-to-osteopetrosis-with-dysfunctional-osteoclasts
#1
Eva-Lena Stattin, Petra Henning, Joakim Klar, Emma McDermott, Christina Stecksen-Blicks, Per-Erik Sandström, Therese G Kellgren, Patrik Rydén, Göran Hallmans, Torsten Lönnerholm, Adam Ameur, Miep H Helfrich, Fraser P Coxon, Niklas Dahl, Johan Wikström, Ulf H Lerner
Autosomal recessive osteopetrosis (ARO) is a heterogeneous disorder, characterized by defective osteoclastic resorption of bone that results in increased bone density. We have studied nine individuals with an intermediate form of ARO, from the county of Västerbotten in Northern Sweden. All afflicted individuals had an onset in early infancy with optic atrophy, and in four patients anemia was present at diagnosis. Tonsillar herniation, foramen magnum stenosis, and severe osteomyelitis of the jaw were common clinical features...
June 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28521627/disseminated-bacillus-calmette-gu%C3%A3-rin-osteomyelitis-in-twin-sisters-related-to-stat1-gene-deficiency
#2
Sabah Boudjemaa, Linda Dainese, Sébastien Héritier, Caroline Masserot, Samia Hachemane, Jean-Laurent Casanova, Aurore Coulomb, Jacinta Bustamante
Mendelian susceptibility to mycobacterial disease is a rare syndrome characterized by severe clinical infections usually caused by weakly virulent mycobacterial species such as Bacillus Calmette-Guérin vaccines and environmental nontuberculous mycobacteria or more virulent mycobacteria as mycobacterium tuberculosis. Since 1996, 9 genes including 7 autosomal ( STAT1, IFNGR1, IFNGR2, IL12B, IL12RB1, ISG15, and IRF8) and 2 X-linked genes ( NEMO and CYBB) have been identified. Allelic heterogeneity leaded to recognize about 18 genetic diseases with variable clinical phenotypes, but sharing a same physiological mechanism represented by a defect in human IL-12-dependant-INF-γ-mediated immunity...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28516082/multifocal-recurrent-osteomyelitis-and-hemophagocytic-lymphohistiocytosis-in-a-boy-with-partial-dominant-ifn-%C3%AE-r1-deficiency-case-report-and-review-of-the-literature
#3
Aidé Tamara Staines-Boone, Caroline Deswarte, Edna Venegas Montoya, Luz María Sánchez-Sánchez, Jorge Alberto García Campos, Teodoro Muñiz-Ronquillo, Jacinta Bustamante, Francisco J Espinosa-Rosales, Saul Oswaldo Lugo Reyes
Mutations in the genes coding for cytokines, receptors, second messengers, and transcription factors of interferon gamma (IFN-γ) immunity cause Mendelian susceptibility to mycobacterial disease (MSMD). We report the case of a 7-year-old male patient with partial dominant (PD) IFN-γ receptor 1 deficiency who had suffered from multifocal osteomyelitis attributable to bacille Calmette-Guérin vaccination since the age of 18 months. He developed hemophagocytic lymphohistiocytosis (HLH), a hyper-inflammatory complication, and died with multiorgan dysfunction, despite having been diagnosed and treated relatively early...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28486628/chronic-recurrent-multifocal-osteomyelitis-in-children-and-adults-current-understanding-and-areas-for-development
#4
Marion R Roderick, Ethan S Sen, Athimalaipet V Ramanan
Since the first descriptions of chronic recurrent multifocal osteomyelitis in the 1970s, there have been numerous case reports in the literature; both unusual case reports and case series from all over the world. Our understanding of the pathogenesis has significantly changed, with it now being regarded as an autoinflammatory condition. Treatment options have also expanded, but little progress has been made in developing the evidence for treatments. Advancing gene studies have provided a mouse model, but the quest for a single gene to match the phenotype has been elusive...
April 6, 2017: Rheumatology
https://www.readbyqxmd.com/read/28403796/riboswitches-as-potential-targets-for-the-development-of-anti-biofilm-drugs
#5
José A Reyes-Darias, Tino Krell
In nature, bacteria can exist as single motile cells or as sessile cellular community, known as microbial biofilms. Bacteria within biofilms are embedded in a self-produced extracellular matrix that makes them more resistant to antibiotic treatment and responses of the host immune system. Microbial biofilms are very important in medicine since they are associated with several human diseases such as dental caries, periodontitis, otitis media, infective endocarditis, infectious kidney stones, osteomyelitis or prostatitis...
April 7, 2017: Current Topics in Medicinal Chemistry
https://www.readbyqxmd.com/read/28391634/chi3l1-regulation-of-inflammation-and-the-effects-on-osteogenesis-in-a-staphylococcus-aureus-induced-murine-model-of-osteomyelitis
#6
XueQiu Chen, Jian Jiao, XiaoQing He, JianPing Zhang, Hai Wang, YongQing Xu, Tao Jin
Osteomyelitis is an inflammation of the bone and bone marrow that occurs as a consequence of infections mainly attributed to Staphylococcus aureus. In a previous study, we found that expression of the chitinase 3-like 1 (CHI3L1) gene affected mineralization of MC3T3-E1 cells infected with S. aureus and there was increased expression of CHI3L1 in the blood of osteomyelitis patients. In the present study, to further investigate the role of CHI3L1 in osteomyelitis, we developed an S. aureus-induced murine model of the disease...
April 8, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28378938/ag490-suppresses-interleukin-34-mediated-osteoclastogenesis-in-mice-bone-marrow-macrophages
#7
Xin Cheng, Qi-Long Wan, Zu-Bing Li
Interleukin-34 (IL-34) has been recently identified as a novel cytokine, substituting for the function of macrophage colony-stimulating factor (M-CSF), a pivotal osteoclastogenic factor involved in bone-related diseases (e.g., osteomyelitis of the jaws). However, the molecular mechanisms are not fully understood. This study aimed to explore the potential mechanism of IL-34 in receptor activator of NF-kB ligand (RANKL)-induced osteoclast formation. We found that IL-34 alone significantly maintained the survival of bone marrow macrophages (BMMs) and enhanced the expression of the osteoclast-related genes TRAP, Ctsk, and NFATc1, as well as TRAP-positive multinucleated cells combined with RANKL, which can be reversed by AG490...
April 5, 2017: Cell Biology International
https://www.readbyqxmd.com/read/28373200/the-antimicrobial-effects-of-%C3%AE-lactams-on-imipenem-resistant-ceftazidime-susceptible-pseudomonas-aeruginosa
#8
Yu Mi Wi, Ji-Young Choi, Ji-Young Lee, Cheol-In Kang, Doo Ryeon Chung, Kyong Ran Peck, Jae-Hoon Song, Kwan Soo Ko
We studied the resistance mechanism and antimicrobial effects of β-lactams on imipenem-resistant Pseudomonas aeruginosa isolates susceptible to ceftazidime as detected by time-kill curve methods. Among 215 P. aeruginosa isolates from hospitalized patients in eight hospitals in Korea, 18 isolates (23.4% of 77 imipenem-resistant isolates) were both imipenem-resistant and ceftazidime-susceptible. Multilocus sequence typing revealed diverse genotypes, indicating their independent emergence. These 18 isolates were negative for carbapenemase genes...
April 3, 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28348754/actinobacillus-hominis-osteomyelitis-first-reported-case-in-the-english-language-medical-literature
#9
Gavin O'Neill, Andrew Ker, Aslam Mohammed, Anne Marie Karcher
INTRODUCTION: Actinobacillus hominis is currently a rarely reported pathogen. It has previously been associated with respiratory tract infections and bacteraemia in debilitated patients. However, under-reporting may occur due to misidentification by commonly used laboratory bacterial identification systems. This case is, to the best of our knowledge, the first reported case of A. hominis osteomyelitis in the English language medical literature. CASE PRESENTATION: A 37-year-old male presented with a painful foot...
June 2016: JMM Case Reports
https://www.readbyqxmd.com/read/28320836/adaptive-upregulation-of-clumping-factor-a-clfa-by-staphylococcus-aureus-in-the-obese-type-2-diabetic-host-mediates-increased-virulence
#10
Christopher W Farnsworth, Eric M Schott, Sarah E Jensen, Jacob Zukoski, Abigail M Benvie, Majed A Refaai, Stephen L Kates, Edward M Schwarz, Michael J Zuscik, Steven R Gill, Robert A Mooney
Obesity and associated type 2 diabetes (T2D) are important risk factors for infection following orthopedic implant surgery. Staphylococcus aureus, the most common pathogen in bone infections, adapts to multiple environments to survive and evade host immune responses. Whether adaptation of S. aureus to the unique environment of the obese/T2D host accounts for its increased virulence and persistence in this population is unknown. Thus, we assessed implant-associated osteomyelitis in normal versus high-fat-diet obese/T2D mice and found that S...
June 2017: Infection and Immunity
https://www.readbyqxmd.com/read/28317027/the-type-a-and-type-b-polysaccharide-capsules-predominate-in-an-international-collection-of-invasive-kingella-kingae-isolates
#11
Eric A Porsch, Kimberly F Starr, Pablo Yagupsky, Joseph W St Geme
Kingella kingae is an encapsulated Gram-negative bacterium and an important etiology of osteoarticular infections in young children. A recent study examining a diverse collection of carrier and invasive K. kingae isolates from Israel revealed four distinct polysaccharide capsule types. In this study, to obtain a global view of K. kingae capsule type diversity, we examined an international collection of isolates using a multiplex PCR approach. The collection contained all four previously identified capsule types and no new capsule types...
March 2017: MSphere
https://www.readbyqxmd.com/read/28301468/recessive-coding-and-regulatory-mutations-in-fblim1-underlie-the-pathogenesis-of-chronic-recurrent-multifocal-osteomyelitis-crmo
#12
Allison J Cox, Benjamin W Darbro, Ronald M Laxer, Gabriel Velez, Xinyu Bing, Alexis L Finer, Albert Erives, Vinit B Mahajan, Alexander G Bassuk, Polly J Ferguson
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, pediatric, autoinflammatory disease characterized by bone pain due to sterile osteomyelitis, and is often accompanied by psoriasis or inflammatory bowel disease. There are two syndromic forms of CRMO, Majeed syndrome and DIRA, for which the genetic cause is known. However, for the majority of cases of CRMO, the genetic basis is unknown. Via whole-exome sequencing, we detected a homozygous mutation in the filamin-binding domain of FBLIM1 in an affected child with consanguineous parents...
2017: PloS One
https://www.readbyqxmd.com/read/28192073/recurrent-and-novel-mutations-in-the-ntrk1-gene-lead-to-rare-congenital-insensitivity-to-pain-with-anhidrosis-in-two-chinese-patients
#13
Fang Lv, Xiao-Jie Xu, Yu-Wen Song, Lu-Jiao Li, Ou Wang, Yan Jiang, Wei-Bo Xia, Xiao-Ping Xing, Peng Gao, Mei Li
BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive autonomic and sensory neuropathy. CIPA is associated with various mutations in NTRK1. CASES: Two unrelated Chinese patients presented separately with symptoms of insensitivity to pain, inability to sweat, repeated painless fractures, and Charcot arthropathy were recruited. Both of them were clinically diagnosed with CIPA. Increased serum bone resorption marker (β-CTX) levels and decreased BMD were observed in both patients...
February 10, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28176803/three-novel-ano5-missense-mutations-in-caucasian-and-chinese-families-and-sporadic-cases-with-gnathodiaphyseal-dysplasia
#14
Lingling Jin, Yi Liu, Fanyue Sun, Michael T Collins, Keith Blackwell, Albert S Woo, Ernst J Reichenberger, Ying Hu
Gnathodiaphyseal dysplasia (GDD; MIM#166260) is an autosomal dominant syndrome with characteristic cemento-osseous lesions of jawbones, bone fragility, and diaphyseal sclerosis of tubular bones. To date, only five mutations in the proposed calcium-activated chloride channel ANO5/TMEM16E gene have been identified. In this study, we describe two families and two singular patients with three new mutations. One Caucasian family with seven affected members exhibited frequent bone fractures and florid osseous dysplasia (p...
February 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28105733/vitamin-d-supplementation-for-sickle-cell-disease
#15
REVIEW
Htoo Htoo Kyaw Soe, Adinegara Bl Abas, Nan Nitra Than, Han Ni, Jaspal Singh, Abdul Razzak Bin Mohd Said, Ifeyinwa Osunkwo
BACKGROUND: Sickle cell disease is a genetic chronic haemolytic and pro-inflammatory disorder. The clinical manifestations of sickle cell disease result from the presence of mutations on the beta globin genes that generate an abnormal haemoglobin product (called haemoglobin S) within the red blood cell. Sickle cell disease can lead to many complications such as acute chest syndrome, stroke, acute and chronic bone complications (including painful vaso-occlusive crisis, osteomyelitis, osteonecrosis and osteoporosis)...
January 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27941533/congenital-insensitivity-to-pain-in-one-family
#16
Andrey Svec, Jana Feldinszka, Milan Kokavec
Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutation in several different genes. The diagnosis requires the combined skills and cooperation of pediatricians, neurologists, radiologists, pathologists, and orthopedic surgeons. Orthopedic manifestations of CIP include delayed diagnosis of fractures, nonunions, Charcot arthropathy, avascular necrosis, osteomyelitis, joint dislocations, and heterotopic ossifications. We present case reports of two brothers with CIP with various orthopedic manifestations and methods of surgical treatment with 10 years of follow-up...
December 9, 2016: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/27931782/radiographic-presentation-of-musculoskeletal-involvement-in-werner-syndrome-adult-progeria
#17
A David, M Vincent, P P Arrigoni, S Barbarot, M A Pistorius, B Isidor, E Frampas
Werner syndrome (i.e., adult progeria) is a rare autosomal recessive disorder caused by mutations of the WRN gene, which is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Patients with Werner syndrome can present with musculoskeletal complaints, associated with suggestive radiographic features with a potential prognostic or therapeutic impact. This review illustrates the main radiographic features of Werner syndrome, focusing on the musculoskeletal system, such as soft-tissue calcification, muscular atrophy, osteoporosis, foot deformities, osteitis and osteomyelitis, and bone or soft-tissues malignancies...
May 2017: Diagnostic and Interventional Imaging
https://www.readbyqxmd.com/read/27904045/puerarin-prevents-lps-induced-osteoclast-formation-and-bone-loss-via-inhibition-of-akt-activation
#18
Yun Zhang, Ming Yan, Qing-Feng Yu, Pei-Fan Yang, Hai-Dong Zhang, Yong-Hong Sun, Zhi-Fen Zhang, Yun-Feng Gao
Osteolysis induced by chronic Gram-negative bacterial infection underlies many bone diseases such as osteomyelitis, septic arthritis, and periodontitis. Drugs that inhibit lipopolysaccharide (LPS)-induced osteolysis are critically needed for the prevention of bone destruction in infective bone diseases. In this study, we assessed the effect of puerarin, a natural isoflavone isolated from Pueraria lobata OHWI root, on LPS-induced osteoclastogenesis and bone loss. Our in vitro study showed that puerarin significantly inhibited LPS-induced osteoclast differentiation from osteoclast precursor RAW264...
2016: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/27882078/debridement-in-chronic-osteomyelitis-with-benign-osteopetrosis-a-case-report
#19
Yu-Ping Liu, Xiang-Hua Lin, Man-Yun Yan, Bao-Quan Lin, Ming-Ying Zhuo
Osteopetrosis is a rare bone disease caused by metabolic imbalances as a result of genetic mutations. For instance, autosomal dominant osteopetrosis is caused by a missense mutation of the C1CN7 gene. This was first reported in 1904 and is thought to be caused by osteoclastic dysfunction and an impaired bone resorption ability. An accumulation of cortical bone mass during the remodeling of the medullary bone may increase the bone density and give rise to a hard marble consistency. Osteopetrosis can be divided into benign and malignant forms; however, no curative treatment exists for benign osteopetrosis...
November 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27881195/the-involvement-of-runx2-and-sparc-genes-in-the-bacterial-chondronecrosis-with-osteomyelitis-in-broilers
#20
E Paludo, A M G Ibelli, J O Peixoto, F C Tavernari, C A V Lima-Rosa, J R C Pandolfi, M C Ledur
Economic losses due to an increase of leg disorders in broilers have become a major concern of the poultry industry. Despite the efforts to reduce skeletal abnormalities in chickens, insufficient progress has been made. Bacterial chondronecrosis with osteomyelitis (BCO) is one of the main disorders that affect bone integrity in broilers. However, the genetic pathways and genes involved in most bone problems, including BCO, remains unclear. In this study, femoral samples from male broilers with 45 days of age affected or not with BCO were used to compare the relative expression with a reverse transcription real time PCR approach of 13 candidate genes: SPP1 (osteopontin), TNFRSF11B (osteoprotegerin), SPARC (osteonectin), CALB1 (calbidin 1), CALM (Calmodulin 2), IBSP (sialoprotein), COL1A2 (collagen, type I, α 2), BMP2 (bone morphogenetic protein 2), BMP3 (bone morphogenetic protein 3), RANKL (κ-B nuclear factor ligand), SMAD1 (SMAD family member 1), LEPR (leptin receptor) and RUNX2 (related transcription factor Runt 2)...
November 24, 2016: Animal: An International Journal of Animal Bioscience
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