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bone dysplasias

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https://www.readbyqxmd.com/read/28822917/coexistence-of-aberrant-hematopoietic-and-stromal-elements-in-myelodysplastic-syndromes
#1
Salar Abbas, Archana Kini, Vivi M Srivastava, Marie Therese M, Sukesh C Nair, Aby Abraham, Vikram Mathews, Biju George, Sanjay Kumar, Aparna Venkatraman, Alok Srivastava
Myelodysplastic syndromes (MDS) are a group of clonal hematopoietic disorders related to hematopoietic stem and progenitor cell dysfunction. Several studies have shown the role of the bone marrow microenvironment in regulating hematopoietic stem, and progenitor function and their individual abnormalities have been associated with disease pathogenesis. In this study, we simultaneously evaluated hematopoietic stem cells (HSC), hematopoietic stem progenitor cells (HSPCs) and different stromal elements in a cohort of patients with MDS-refractory cytopenia with multilineage dysplasia (RCMD)...
August 9, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28822791/acute-unilateral-hip-pain-in-fibrodysplasia-ossificans-progressiva-fop
#2
Frederick S Kaplan, Mona Al Mukaddam, Robert J Pignolo
BACKGROUND: Flare-ups of the hips are among the most feared and disabling complications of fibrodysplasia ossificans progressiva (FOP) and are poorly understood. In order to better understand the nature of hip flare-ups in FOP, we evaluated 25 consecutive individuals with classic FOP (14 males, 11 females; 3-56years old, median age, 17years old) who presented with acute unilateral hip pain. RESULTS: All 25 individuals were suspected of having a flare-up of the hip based on clinical history and a favorable response to a four day course of high-dose oral prednisone...
August 16, 2017: Bone
https://www.readbyqxmd.com/read/28820180/osteogenesis-imperfecta
#3
REVIEW
Joan C Marini, Antonella Forlino, Hans Peter Bächinger, Nick J Bishop, Peter H Byers, Anne De Paepe, Francois Fassier, Nadja Fratzl-Zelman, Kenneth M Kozloff, Deborah Krakow, Kathleen Montpetit, Oliver Semler
Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure...
August 18, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28819341/reliability-of-the-acetabular-reconstruction-technique-using-autogenous-bone-graft-from-resected-femoral-head-in-hip-dysplasia-influence-of-the-change-of-hip-joint-center-on-clinical-outcome
#4
Joo Ho Song, Tae Soo Ahn, Pil Whan Yoon, Jae Suk Chang
INTRODUCTION: The previous studies have not reached on consensus as to the outcome of acetabular reconstruction with autogenous bone graft for dysplastic hips, especially in severe cases such as Crowe type IV. The current study aimed to determine the survivorship of the arthroplasty and the grafts as well as the change of hip joint center averagely 9.8 years (range, 5-19) after cementless total hip arthroplasty. MATERIALS AND METHODS: We reviewed 52 cases including 19 cases of complete hip dislocation of which acetabular defects were augmented with autogenous bone grafts taken from the resected femoral heads...
December 2017: Journal of Orthopaedics
https://www.readbyqxmd.com/read/28817981/the-use-of-flexible-intramedullary-nails-in-limb-lengthening
#5
Arnold Popkov, Patrick Foster, Alexander Gubin, Dmitry Borzunov, Dmitry Popkov
Lower and upper limb length discrepancy and deformity, congenital or acquired, are amongst the most common conditions in children for orthopaedic referral. Over the last twenty years, surgical techniques have evolved in an attempt to decrease Healing Index and minimise these complications. Areas covered: The flexible intramedullary nailing (FIN) is a minimally invasive intramedullary osteosynthesis. In combination with an external fixator, it is appropriated for pediatric bone lengthenings and lengthening of bones of small diameter in adults...
August 18, 2017: Expert Review of Medical Devices
https://www.readbyqxmd.com/read/28815251/-morphometric-analysis-of-maxillofacial-bone-in-48-patients-with-ectodermal-dysplasia
#6
Hao-Wei Wang, Feng Wang, Wei Huang, Wen-Jie Zhou, Yue-Ping Wang, Yi-Qun Wu
PURPOSE: The study was performed to analyze the maxillofacial morphology of 48 patients with ectodermal dysplasia (ED) and to provide some reference for implant treatment of ED patients. METHODS: The study collected the clinical data and lateral cephalometric radiographs of 48 patients with ED treated between June 2013 and October 2016. The patients were grouped as follows: group 1, 23 patients, at least with two kinds of ectodermal disorder, besides hypodontia; group 2, 25 patients, only with one kind of ectodermal disorder, besides hypodontia...
April 2017: Shanghai Kou Qiang Yi Xue, Shanghai Journal of Stomatology
https://www.readbyqxmd.com/read/28812463/novel-col1a1-mutation-c-3290g-t-associated-with-severe-form-of-osteogenesis-imperfecta-in-a-fetus
#7
Laura Tanner, Paula Vainio, Minna Sandell, Jukka Laine
Osteogenesis imperfecta is a genetically and clinically heterogenous group of skeletal dysplasias characterized by bone fragility. Its severity ranges from nearly asymptomatic individuals to perinatal lethality. The majority of cases are caused by mutations in either the COL1A1 or the COL1A2 gene coding for alpha 1 and alpha 2 chains of collagen type 1, respectively, and a large number of pathogenic variants of these genes has been identified. We describe a novel COL1A1 mutation associated with prenatally diagnosed severe form of osteogenesis imperfecta...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28808977/skeletal-dysplasias-what-every-bone-health-clinician-needs-to-know
#8
REVIEW
Sarah M Nikkel
PURPOSE OF REVIEW: This review highlights how skeletal dysplasias are diagnosed and how our understanding of some of these conditions has now translated to treatment options. RECENT FINDINGS: The use of multigene panels, using next-generation sequence technology, has improved our ability to quickly identify the genetic etiology, which can impact management. There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those with achondroplasia...
August 14, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28806239/18f-fdg-pet-ct-of-secondary-epithelioid-angiosarcoma-of-the-proximal-femur-in-a-patient-with-polyostotic-fibrous-dysplasia
#9
Michiyuki Hakozaki, Hitoshi Yamada, Osamu Hasegawa, Kazuo Watanabe, Shinichi Konno
Fibrous dysplasia rarely transforms into a secondary malignancy. We present the PET/CT findings at pretreatment and posttreatment in an exceedingly rare case of epithelioid angiosarcoma of the bone secondary to polyostotic fibrous dysplasia.
August 12, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28803808/two-novel-mutations-p-ser160pro-and-p-arg472cys-causing-glucose-6-phosphate-isomerase-deficiency-are-associated-with-erythroid-dysplasia-and-inappropriately-suppressed-hepcidin
#10
Renata Mojzikova, Pavla Koralkova, Dusan Holub, Zuzana Saxova, Dagmar Pospisilova, Daniela Prochazkova, Petr Dzubak, Monika Horvathova, Vladimir Divoky
Glucose-6-phosphate isomerase (GPI) deficiency, a genetic disorder responsible for chronic nonspherocytic hemolytic anemia, is the second most common red blood cell glycolytic enzymopathy. We report three patients from two unrelated families of Czech and Slovak origin with macrocytic hemolytic anemia due to GPI deficiency. The first patient had 15% of residual GPI activity resulting from two new heterozygous missense mutations c.478T>C and c.1414C>T leading to substitutions p.(Ser160Pro) and p.(Arg472Cys)...
April 14, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28802681/activated-fgfr3-promotes-bone-formation-via-accelerating-endochondral-ossification-in-mouse-model-of-distraction-osteogenesis
#11
Yusuke Osawa, Masaki Matsushita, Sachi Hasegawa, Ryusaku Esaki, Masahito Fujio, Bisei Ohgawara, Naoki Ishiguro, Kinji Ohno, Hiroshi Kitoh
Achondroplasia (ACH) is one of the most common short-limbed skeletal dysplasias caused by gain-of-function mutations in the fibroblast growth factor receptors 3 (FGFR3) gene. Distraction osteogenesis (DO) is a treatment option for short stature in ACH in some countries. Although the patients with ACH usually show faster healing in DO, details of the newly formed bone have not been examined. We have developed a mouse model of DO and analyzed new bone regenerates of the transgenic mice with ACH (Fgfr3(ach) mice) histologically and morphologically...
August 9, 2017: Bone
https://www.readbyqxmd.com/read/28797509/bone-related-lesions-of-the-jaws
#12
REVIEW
Daniel Baumhoer
The jaws combine several unique properties that mainly result from their distinct embryonic development and their role in providing anchorage for the teeth and their supporting structures. As a consequence, several bone-related lesions almost exclusively develop in the jaws (eg, osseous dysplasias, ossifying fibromas), have distinct clinical features (eg, osteosarcoma), or hardly ever occur at this location (eg, osteochondroma, enchondroma). The specific characteristics of these tumors and tumorlike lesions are outlined in this article...
September 2017: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/28796110/surgery-navigation-in-treating-congenital-midfacial-dysplasia-of-patients-with-facial-cleft
#13
Dong Li, Shanshan Bai, Zheyuan Yu, Liang Xu, Jie Yuan, Haisong Xu, Min Wei
AIM: To explore a new accurate way for the treatment of congenital midfacial dysplasia in facial cleft patients. MATERIALS AND METHODS: Between November 2015 and November 2016, 8 patients with nasal deformity and midfacial dysplasia (Tessier Nos. 3-11 cleft) were collected (median age, years; range = 15-20 years). Expanded frontal flap for nasal reconstruction and image-guided navigation-assisted surgery for modified nasal-maxillary-hard palatine osteotomy to advance the peri-pyriform bone structure were performed in all the patients...
August 8, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28783116/teratogenic-effects-of-topiramate-in-a-zebrafish-model
#14
Yu-Heng Lai, Yu-Ju Ding, David Moses, Yau-Hung Chen
Topiramate is commonly used for treating epilepsy in both children and adults. Recent clinical data suggests that administration of topiramate to women during pregnancy increases the risk of oral clefts in their offspring. To better understand the potential effects of topiramate, we dosed adult female zebrafish with topiramate, and investigated the altered morphologies in adult females and their offspring. It showed that topiramate-treated female fish had reduced oocyte maturation, and the survival rates of their offspring were seriously decreased during embryogenesis...
August 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28777229/the-modified-rambo-transcanal-approach-for-cochlear-implantation-in-charge-syndrome
#15
Cameron C Wick, Amy M Moore, Daniel E Killeen, Brandon Isaacson
OBJECTIVE: CHARGE syndrome is associated with a variety of temporal bone anomalies and deafness. The lack of surgical landmarks and facial nerve irregularities make cochlear implantation in this population a challenging endeavor. This study aims to describe a safe and efficacious transcanal approach for cochlear implantation that obviates the need to perform a mastoidectomy and facial recess. PATIENTS: Three children with profound hearing loss secondary to CHARGE syndrome...
August 2, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28768959/next-generation-sequencing-based-mutation-screening-of-86-patients-with-idiopathic-short-stature
#16
Atsushi Hattori, Yuko Katoh-Fukui, Akie Nakamura, Keiko Matsubara, Tsutomu Kamimaki, Hiroyuki Tanaka, Sumito Dateki, Masanori Adachi, Koji Muroya, Shinobu Yoshida, Shinobu Ida, Marie Mitani, Keisuke Nagasaki, Tsutomu Ogata, Erina Suzuki, Kenichiro Hata, Kazuhiko Nakabayashi, Yoichi Matsubara, Satoshi Narumi, Toshiaki Tanaka, Maki Fukami
Although mutations in ACAN, FGFR3, NPR2, and SHOX typically lead to skeletal dysplasia, and mutations in GHRHR, GH1, GHR, STAT5B, IGF1, IGFALS, and IGF1R usually underlie hormonal defects of the growth hormone (GH)-insulin-like growth factor 1 (IGF1) axis, such mutations have also been identified in patients with idiopathic short stature (ISS). Of these, SHOX abnormalities are known to account for a certain percentage of ISS cases, whereas the frequency of mutations in the other 10 genes in ISS cohorts remains unknown...
August 3, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28768791/the-correlation-between-salter-s-criteria-for-avascular-necrosis-of-the-femoral-head-and-kalamchi-s-prognostic-classification-following-the-treatment-of-developmental-dysplasia-of-the-hip
#17
Y Tsukagoshi, M Kamegaya, H Kamada, T Saisu, M Morita, J Kakizaki, Y Tomaru, M Yamazaki
AIMS: The aim of this study was to evaluate the correlation between Salter's criteria and Kalamchi's classification of avascular necrosis in patients treated for developmental dysphasia of the hip (DDH). PATIENTS AND METHODS: The study involved a retrospective analysis of 123 patients (123 hips) with DDH treated by operative and non-operative reduction before the age of two years, with a minimum follow-up of ten years. Salter's criteria (S1 to S4) were determined from radiographs obtained at one to two years post-reduction, whilst the Kalamchi grade was determined from radiographs obtained at ten or more years of age...
August 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/28763161/monoallelic-fgfr3-and-biallelic-alpl-mutations-in-a-thai-girl-with-hypochondroplasia-and-hypophosphatasia
#18
Thantrira Porntaveetus, Chalurmpon Srichomthong, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Skeletal dysplasias are a complex group of more than 350 disorders with phenotypic and genotypic heterogeneity affecting bone and cartilage growth. We studied a 2-year-old girl and her 21-year-old mother with disproportionate short stature. In addition to typical features of hypochondroplasia found in both patients, the child had deformities of the extremity bones, metaphyseal flares, and bilateral transverse (Bowdler) fibular spurs with overlying skin dimples detected at birth. Intravenous pamidronate was started in the child since the age of 17 days, and then every two months...
August 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28761541/post-traumatic-fibrous-dysplasia-of-the-parietal-bone-a-rare-entity
#19
Muhammad Sohail Umerani, Saqib Kamran Bakhshi, Asad Abbas, Salman Sharif, Sidra Arshad
Fibrous dysplasia (FD) is a rare fibro-osseous lesion in which normal bone is replaced by abnormal fibrous tissue. Although a congenital disorder, a single case report of traumatic etiology had been described in the literature. We report a case of monostotic FD of the parietal calvarium in a 21-year-old female patient who presented to us with a single swelling in the parietal region been noticed after head injury sustained at the age of 7 years. After imaging investigations, the lesion was excised via craniotomy followed by cranioplasty in the same sitting...
July 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28761532/skull-base-bony-lesions-management-nuances-a-retrospective-analysis-from-a-tertiary-care-centre
#20
Amit Kumar Singh, Arun Kumar Srivastava, Jayesh Sardhara, Kamlesh Singh Bhaisora, Kuntal Kanti Das, Anant Mehrotra, Rabi Narayan Sahu, Awadhesh Kumar Jaiswal, Sanjay Behari
BACKGROUND: Skull base lesions are not uncommon, but their management has been challenging for surgeons. There is large no of bony tumors at the skull base which has not been studied in detail as a group. These tumors are difficult not only because of their location but also due to their variability in the involvement of important local structure. Through this retrospective analysis from a Tertiary Care Centre, we are summarizing the details of skull base bony lesions and its management nuances...
July 2017: Asian Journal of Neurosurgery
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