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https://www.readbyqxmd.com/read/29770252/utility-of-magnetic-resonance-cisternography-with-intrathecal-gadolinium-in-detection-of-cerebrospinal-fluid-fistula-associated-with-mondini-dysplasia-in-a-patient-with-recurrent-meningitis-case-report-and-literature-review
#1
Enrique Caro-Osorio, Alba Espino-Ojeda, Lino Guevara-Maldonado, José C Herrea-Castro
Background: The intrathecal contrast-enhanced magnetic resonance cisternography (MRC) is a diagnostic method that has been proven effective in selected patients with various disorders of the cerebrospinal system, including the detection of cerebrospinal fluid (CSF) leaks. The Mondini dysplasia is a malformation of the inner ear characterized by an incomplete cochlear development. The cerebrospinal fistula associated with Mondini dysplasia usually occurs in the first 5-10 years. Case Description: The case of a 34-year-old woman with CSF rhinorrhea and recurrent meningitis associated with CSF fistula into the right inner ear, which was detected by MRC with intrathecal gadolinium, is presented...
2018: Surgical Neurology International
https://www.readbyqxmd.com/read/29769514/cleidocranial-dysplasia-presentation-of-clinical-and-radiological-features-of-a-rare-syndromic-entity
#2
R Modgil, K S Arora, A Sharma, S Mohapatra, S Pareek
Cleidocranial dysplasia is a developmental anomaly of the skeleton and the teeth. This condition may be inherited and be transmitted as dominant characteristics in either gender, or may appear spontaneously. It presents with skeletal defects of several bones, such as partial or complete absence of clavicles, late closure of the fontanels, presence of open skull sutures and multiple wormian bones. The dental manifestations are mainly delayed exfoliation of primary teeth and delayed eruption of permanent teeth with multiple impacted supernumerary teeth...
April 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29766377/resolution-of-femoral-metaphyseal-dysplasia-in-cinca-syndrome-after-long-term-treatment-with-interleukin-1-blockade
#3
REVIEW
Donato Rigante, Raffaele Manna, Elena Verrecchia, Raffaella Marrocco, Antonio Leone
Chronic infantile neurological cutaneous articular (CINCA) syndrome is a rare autoinflammatory disorder driven by uncontrolled hypersecretion of interleukin (IL)-1, which can be clinically depicted by striking cutaneous, neurologic, and skeletal features. Little is known about the exact pathogenesis of CINCA bone disease, which mainly involves the knees. We report a 20-year-old CINCA patient, who was consecutively treated firstly with anakinra, started at 7 years, then with full dose canakinumab, started at 17 years, focusing on the typical bone abnormalities of the syndrome: the comparison of radiographs of knees performed at 7 and 20 years has shown the disappearance of a typical metaphyseal dysplasia occurring in the femurs of this CINCA patient, regularly treated with IL-1 blockade for a period of 13 years...
May 16, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29751770/systemically-administered-allogeneic-mesenchymal-stem-cells-do-not-aggravate-the-progression-of-precancerous-lesions-a-new-biosafety-insight
#4
Flavia Bruna, Anita Plaza, Martha Arango, Iris Espinoza, Paulette Conget
BACKGROUND: Mesenchymal stem cells (MSCs) are a heterogeneous subset of stromal cells currently tested for multiple therapeutic purposes. Their potential to home into tumors, to secrete trophic/vasculogenic factors, and to suppress immune response raises questions regarding their biosafety. Our aim was to evaluate whether systemically administered allogeneic MSCs modify the natural progression of precancerous lesions and whether their putative effect depends on cancer stage and/or cell dose...
May 11, 2018: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29744853/fibrous-dysplasia-clinicopathologic-presentation-of-36-cases
#5
Mine Özşen, Ülviye Yalçinkaya, Muhammed Sadık Bilgen, Zeynep Yazici
OBJECTIVE: Fibrous dysplasia is a slowly progressing bone lesion resulting from displacement of the normal medullary bone with abnormal fibroosseous tissue. The aim of this study was to assess the similarities and differences of our cases in relation to published reports. MATERIAL AND METHOD: In this study, the archives of the Uludag University Medical Faculty Department of Pathology were screened for fibrous dysplasia cases between 2004 and 2016. RESULTS: Within the mentioned period, there were 36 cases diagnosed as fibrous dysplasia...
May 10, 2018: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/29741626/functional-analysis-of-a-hypomorphic-allele-shows-that-mmp14-catalytic-activity-is-the-prime-determinant-of-the-winchester-syndrome-phenotype
#6
Ivo J H M de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, Julian L Goggi, Thomas Scerri, Gabrielle R Wilson, Chernis Guai Mun Low, Arnette Shi Wei Wong, Dominic Grussu, Alexander P A Stegmann, Michel van Geel, Renske Janssen, David J Amor, Melanie Bahlo, Norris R Dunn, Thomas J Carney, Paul J Lockhart, Barry J Coull, Maurice A M van Steensel
Winchester syndrome (WS, MIM #277950) is an extremely rare autosomal recessive skeletal dysplasia characterized by progressive joint destruction and osteolysis. To date, only one missense mutation in MMP14, encoding the membrane-bound matrix metalloprotease 14, has been reported in WS patients. Here, we report a novel hypomorphic MMP14 p.Arg111His (R111H) allele, associated with a mitigated form of WS. Functional analysis demonstrated that this mutation, in contrast to previously reported human and murine MMP14 mutations, does not affect MMP14's transport to the cell membrane...
May 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29741254/present-status-and-perspective-of-laboratory-hematology-in-japan-on-the-standardization-of-blood-cell-morphology-including-myelodysplasia-on-behalf-of-the-japanese-society-for-laboratory-hematology
#7
REVIEW
K Tohyama
The Japanese Society for Laboratory Hematology (JSLH) was launched in 2000 and has been developed by a mutual collaboration of hematologists, medical technologists, and the companies involved in hematological laboratory testing. The aim of JSLH is the progress and development of laboratory hematology by academic conferences, periodic publication of academic journal, training and education (in the meeting, the journal, or the website), promotion of the standardization of laboratory hematology, and certification of the laboratory hematology specialists...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29729173/indscators-of-blood-lipid-profile-acute-phase-reactions-and-uric-acid-in-patients-with-arterial-hypertension-combined-with-connective-tissue-dysplasia
#8
Yevheniya H Zaremba, Nataliya O Rak, Olha V Zaremba, Olena V Zaremba-Fedchyshyn, Marianna M Virna, Liliya O Odnorih
OBJECTIVE: Introduction:Changes in the cardiovascular system can be divided into 2 groups due to the connective tissue dysplasia (CTD) and changes in the circulatory system, caused by pathological processes that arose on the basis of the connective structures failure. One of the risk factors of arterial hypertension (AH) remaining insufficiently studied is collagen pathology - nondifferentiated connective tissue dysplasia (NCTD). The presence of connective tissue in all organs and systems, the common origin of smooth muscles, blood and lymph from mesenchyma leads to dysplastic changes in any organ and system...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29721232/management-of-symptomatic-florid-cemento-osseous-dysplasia-literature-review-and-a-case-report
#9
Riccardo Aiuto, Federico Gucciardino, Roberta Rapetti, Sandro Siervo, Andrea-Edoardo Bianch
Introduction: Cemento-osseous dysplasia is a jaw disorder characterized by a reactive process in which normal bone is replaced by connective tissue matrix. There are different Cemento-osseous dysplasia entities. The treatment of these lesions, once diagnosed by radiology, is not required because generally they are asymptomatic. The localization is in the tooth-bearing areas of the jaws and its distribution is symmetric. Case Reports: In this case report, a 57-year-old Caucasian female patient was referred to our attention complaining of painful inflammatory events localized in the right angle of the jaw...
March 2018: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/29707521/evaluation-by-flow-cytometry-of-mature-monocyte-subpopulations-for-the-diagnosis-and-follow-up-of-chronic-myelomonocytic-leukemia
#10
Tiphanie Picot, Carmen Mariana Aanei, Pascale Flandrin Gresta, Pauline Noyel, Sylvie Tondeur, Emmanuelle Tavernier Tardy, Denis Guyotat, Lydia Campos Catafal
Chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative neoplasm, characterized by persistent monocytosis and dysplasia in at least one myeloid cell lineage. This persistent monocytosis should be distinguished from the reactive monocytosis which is sometimes observed in a context of infections or solid tumors. In 2015, Selimoglu-Buet et al. observed an increased percentage of classical monocytes (CD14+ /CD16- >94%) in the peripheral blood (PB) of CMML patients. In this study, using multiparametric flow cytometry (MFC), we assessed the monocytic distribution in PB samples and in bone marrow aspirates from 63 patients with monocytosis or CMML suspicion, and in seven follow-up blood samples from CMML patients treated with hypomethylating agents (HMA)...
2018: Frontiers in Oncology
https://www.readbyqxmd.com/read/29706315/recurrent-streptococcus-pneumoniae-meningitis-and-mondini-dysplasia-association-or-causation
#11
Indar K Sharawat, Ananthanarayanan Kasinathan, Guru P Peruri, Arushi G Saini, Naveen Sankhyan, Akshay K Saxena, Paramjeet Singh
Mondini dysplasia is a developmental disorder of the inner ear structures and it is a rare cause of recurrent bacterial meningitis in children. A 10-year-old boy presented with acute febrile encephalopathy and right ear pain. In the past, he had suffered from two distinct episodes of pyogenic meningitis. On examination, he had signs of meningeal irritation and right ear sensorineural deafness. Magnetic resonance imaging of the brain and computerized tomography of the temporal bone was suggestive of Mondini dysplasia in the right ear...
April 26, 2018: Journal of Infection and Public Health
https://www.readbyqxmd.com/read/29701087/the-positive-predictive-value-of-asymmetrical-skin-creases-in-the-diagnosis-of-pathological-developmental-dysplasia-of-the-hip
#12
M J Anderton, G R Hastie, R W Paton
Aims The aim of this study was to identify the association between asymmetrical skin creases of the thigh, buttock or inguinal region and pathological developmental dysplasia of the hip (DDH). Patients and Methods Between 1 January 1996 and 31 December 2016, all patients referred to our unit from primary or secondary care with risk factors for DDH were assessed in a "one stop" clinic. All had clinical and sonographic assessment by the senior author (RWP) with the results being recorded prospectively...
May 1, 2018: Bone & Joint Journal
https://www.readbyqxmd.com/read/29700810/refining-the-phenotype-associated-with-biallelic-dnajc21-mutations
#13
G D'Amours, F Lopes, J Gauthier, V Saillour, C Nassif, R Wynn, N Alos, T Leblanc, Y Capri, S Nizard, E Lemyre, J L Michaud, V-A Pelletier, Y D Pastore, J-F Soucy
Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressivity are common, and clinical diagnosis is often challenging. DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure. However, the specific phenotype and natural history remain to be defined. We correlate molecular data, phenotype, and clinical history of five unreported affected children and all individuals reported in the literature...
April 26, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29698804/phenotype-variability-in-hajdu-cheney-syndrome
#14
Miriam Regev, Ben Pode-Shakked, Jeffrey M Jacobson, Annick Raas-Rothschild, David B Goldstein, Yair Anikster
Hajdu Cheney syndrome is a rare autosomal dominant skeletal dysplasia, with multi-organ involvement, caused by pathogenic variants in NOTCH2. It is characterized by progressive focal bone destruction, including acro-osteolysis and generalized osteoporosis, craniofacial anomalies, hearing loss, cardiovascular involvement and polycystic kidneys. Distinct radiographic findings, such as a serpentine fibula, may aid in facilitating the diagnosis. Despite several dozens of cases described in the literature, diagnosis often remains elusive, resulting in many cases in a delay in diagnosis reaching adolescence or adulthood...
April 23, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29698301/is-there-an-association-between-borderline-to-mild-dysplasia-and-hip-osteoarthritis-analysis-of-ct-osteoabsorptiometry
#15
Tohru Irie, Daisuke Takahashi, Tsuyoshi Asano, Ryuta Arai, Muhammad Alaa Terkawi, Yoichi M Ito, Norimasa Iwasaki
BACKGROUND: The definitive treatment of borderline-to-mild dysplasia remains controversial. A more comprehensive understanding of the etiology of osteoarthritis (OA) and clarification of any possible association between borderline-to-mild dysplasia and the pathogenesis of OA are essential. QUESTIONS/PURPOSES: (1) Does the distribution of acetabular subchondral bone density increase according to dysplasia severity? (2) Is there an association between borderline-to-mild dysplasia and OA pathogenesis? METHODS: We evaluated bilateral hips of patients with developmental dysplasia of the hip who underwent eccentric rotational acetabular osteotomy (ERAO) for inclusion in the dysplasia group and contralateral hips of patients with unilateral idiopathic osteonecrosis of the femoral head (ONFH) who underwent curved intertrochanteric varus osteotomy (CVO) for the control group...
April 23, 2018: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/29695406/a-novel-association-of-campomelic-dysplasia-with-hydrocephalus-due-to-an-unbalanced-chromosomal-translocation-upstream-of-sox9
#16
Prince Antwi, Christopher S Hong, Daniel Duran, Jin Sheng Chih, Weilai Dong, Michael DiLuna, Kristopher T Kahle
Campomelic dysplasia is a rare skeletal dysplasia characterized by Pierre-Robin sequence, craniofacial dysmorphism, shortening and angulation of long bones, tracheobronchomalacia, and occasionally sex reversal. The disease is due to mutations in SOX9 or chromosomal rearrangements involving the long arm of chromosome 17 harboring the SOX9 locus. SOX9, a transcription factor, is indispensible in establishing and maintaining neural stem cells in the CNS. We present a patient with angulation of long bones and external female genitalia on prenatal ultrasound who was subsequently found to harbor the chromosomal abnormality 46, XY, t(6;17) (p21...
April 25, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29690701/-progress-in-the-diagnosis-of-florid-cemento-osseous-dysplasia
#17
P Y Zhang, C Xiao
Florid cemento-osseous dysplasia (FLCOD) is a rare, extensive bone metabolism disorder, which occurs only in the jaw bone. It is usually asymptomatic for a long time and discovered incidentally during a radiological examination. The characteristics of FLCOD in the initial stages are similar to those of periapical granuloma or jaw cyst, which may lead to misdiagnosis. After the lesion is mature, the imaging findings show that radiopaque with a thin radiolucent peripheral halo, which is crucial for the diagnosis of FLCOD, but other jaw lesions have similar imaging findings...
April 9, 2018: Zhonghua Kou Qiang Yi Xue za Zhi, Zhonghua Kouqiang Yixue Zazhi, Chinese Journal of Stomatology
https://www.readbyqxmd.com/read/29686565/chronic-neutrophilic-leukemia
#18
Arthur Bredeweg, Micah Burch, John R Krause
Chronic neutrophilic leukemia is a rare myeloproliferative disorder characterized by a sustained peripheral blood neutrophilia, absence of the BCR/ABL oncoprotein, bone marrow hypercellularity with less than 5% myeloblasts and normal neutrophil maturation, and no dysplasia. This leukemia has been associated with mutations in the colony-stimulating factor 3 receptor (CSF3R) that may activate this receptor, leading to the proliferation of neutrophils that are the hallmark of chronic neutrophilic leukemia. We present a case of chronic neutrophilic leukemia and discuss the criteria for diagnosis and the significance of mutations found in this leukemia...
January 2018: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/29682553/maxillary-bone-regeneration-based-on-nanoreservoirs-functionalized-%C3%AE%C2%B5-polycaprolactone-biomembranes-in-a-mouse-model-of-jaw-bone-lesion
#19
Marion Strub, Xavier Van Bellinghen, Florence Fioretti, Fabien Bornert, Nadia Benkirane-Jessel, Ysia Idoux-Gillet, Sabine Kuchler-Bopp, François Clauss
Current approaches of regenerative therapies constitute strategies for bone tissue reparation and engineering, especially in the context of genetical diseases with skeletal defects. Bone regeneration using electrospun nanofibers' implant has the following objectives: bone neoformation induction with rapid healing, reduced postoperative complications, and improvement of bone tissue quality. In vivo implantation of polycaprolactone (PCL) biomembrane functionalized with BMP-2/Ibuprofen in mouse maxillary defects was followed by bone neoformation kinetics evaluation using microcomputed tomography...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29679503/prosthetic-rehabilitation-of-patients-with-hypohidrotic-ectodermal-dysplasia-a-systematic-review
#20
REVIEW
Dagmar Schnabl, Ingrid Grunert, Matthias Schmuth, Ines Kapferer-Seebacher
BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) comprises a large group of inherited disorders of ectodermal structures, characterized by hypo-/anhidrosis, hypotrichosis and hypo-/oligo-/anodontia. OBJECTIVE: We aimed to systematically assess the spectrum of prosthodontic approaches with regard to the patients' age and to provide clinical implications for practicing dentists. METHODS: An electronic and manual search was conducted in four databases (Medline, LIVIVO, Cochrane Library, Web of Science Core Collection)...
April 21, 2018: Journal of Oral Rehabilitation
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