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bone dysplasias

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https://www.readbyqxmd.com/read/29227372/osteofibrous-dysplasia-of-the-tibia-in-children-outcome-without-resection
#1
Daniel Westacott, Peter Kannu, Jennifer Stimec, Sevan Hopyan, Andrew Howard
BACKGROUND: The proposed association between osteofibrous dysplasia and adamantinoma has led some to advocate resection of the entire lesion, which can require major subsequent reconstruction. However, this link remains unproven and there is some support in more recent literature for a less aggressive approach. This study aims to describe our experience managing pediatric tibial osteofibrous dysplasia with such an approach and to report functional outcomes in children treated thus. METHODS: A total of 28 cases of osteofibrous dysplasia in 25 patients were managed at a referral center for pediatric bone tumors with observation in the first instance, then limited surgical intervention if required to address pain and deformity...
December 8, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29226717/atypical-chronic-myeloid-leukemia-a-rare-entity-with-management-challenges
#2
Prajwal Dhakal, Krishna Gundabolu, Catalina Amador, Supratik Rayamajhi, Vijaya Raj Bhatt
The aim of our study was to review the clinicopathologic features and management of atypical chronic myeloid leukemia (aCML). Relevant manuscripts published in English were searched using PubMed. aCML is diagnosed as per WHO 2016 classification in the presence of leukocytosis ≥13 × 109/l with circulating neutrophil precursors ≥10%, monocytes less than 10%, minimal basophils, hypercellular bone marrow with granulocytic proliferation and dysplasia, bone marrow blast less than 20% and absence of BCR/ABL fusion gene...
December 11, 2017: Future Oncology
https://www.readbyqxmd.com/read/29224249/pili-annulati-in-a-case-of-rothmund-thomson-syndrome-with-a-novel-frameshift-mutation-in-recql4
#3
B Bhoyrul, H Lindsay, R Robinson, J Stahlschmidt, T Palmer, S Edward, S M Clark
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterised by erythematous patches or plaques and sometimes swelling and blisters, which appear during infancy on photo-exposed sites, usually the cheeks, then progress to poikiloderma. Other features include gastrointestinal disturbance, short stature, sparse scalp hair/eyebrows/eyelashes, skeletal abnormalities, juvenile cataracts, hypogonadism and a susceptibility to malignancy. Two forms have been described: Type I, characterised by poikiloderma, ectodermal dysplasia and juvenile cataracts, negative for the RECQL4 mutation, and Type II, with poikiloderma, congenital bone defects and increased risk of osteosarcoma related to deleterious RECQL4 mutations...
December 10, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29220700/prognostic-importance-of-aurora-kinases-and-mitotic-spindle-genes-transcript-levels-in-myelodysplastic-syndrome
#4
Daniela de Paula Borges, Antônio Wesley Araújo Dos Santos, Carlos Roberto Koscky Paier, Howard Lopes Ribeiro, Marília Braga Costa, Izabelle Rocha Farias, Roberta Taiane Germano de Oliveira, Ivo Gabriel da Frota França, Gabrielle Melo Cavalcante, Sílvia Maria Meira Magalhães, Ronald Feitosa Pinheiro
Myelodysplastic syndrome (MDS) are a heterogeneous group of clonal disease characterized by insufficiency of bone marrow, increase of apoptosis and increased risk of acute leukemia progression. Proteins related to the mitotic spindle (AURKA, AURKB, TPX2), to the mitotic checkpoint (MAD2, CDC20) and the regulation of the cell cycle (p21) are directly related to chromosomal stability and tumor development. This study aimed to evaluate the mRNA expression levels of these genes in 101 MDS patients using a real-time PCR methodology...
November 28, 2017: Leukemia Research
https://www.readbyqxmd.com/read/29218289/craniofacial-fibrous-dysplasia-of-zygomaticomaxillary-complex
#5
Kumar Nilesh, Prashant Punde, M I Parkar
Fibrous dysplasia is a benign bone disease first described by Lichtenstein in 1938. It is characterized by progressive replacement of normal bone with fibro-osseous connective tissue. When the disease involves craniofacial skeleton, it results in significant disfigurement and other functional problems. This paper reports a case of large craniofacial fibrous dysplasia involving zygomaticomaxillary complex in a 24-year old male patient. Clinical presentation and imaging characteristics of the pathology is discussed in detail...
September 2017: World Journal of Plastic Surgery
https://www.readbyqxmd.com/read/29214694/myelodysplastic-syndromes-2018-update-on-diagnosis-risk-stratification-and-management
#6
Guillermo Montalban-Bravo, Guillermo Garcia-Manero
DISEASE OVERVIEW: The myelodysplastic syndromes (MDS) are a very heterogeneous group of myeloid disorders characterized by peripheral blood cytopenias and increased risk of transformation to acute myelogenous leukemia (AML). MDS occurs more frequently in older males and in individuals with prior exposure to cytotoxic therapy. DIAGNOSIS: Diagnosis of MDS is based on morphological evidence of dysplasia upon visual examination of a bone marrow aspirate and biopsy. Information obtained from additional studies such as karyotype, flow cytometry or molecular genetics is usually complementary and may help refine diagnosis...
January 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29212572/aberrant-lncrna-expression-in-multiple-myeloma
#7
Hui Meng, Lei Han, Chun Hong, Jinya Ding, Qianchuan Huang
Multiple myeloma (MM), a type of malignant tumor, is characterized by dysplasia of clonal plasma cells in the bone marrow. People with multiple myeloma will have damaged organs or tissues due to secreting of large amounts of monoclonal immunoglobulin or fragments (M protein). In spite of improved survivability by novel treatment strategies over the last decade, MM is still incurable by current therapy. Long non-conding RNA (lncRNA), with length of more than 200 nucleotides, has been reported to act as important regulators in many diseases, including multiple myeloma...
December 4, 2017: Oncology Research
https://www.readbyqxmd.com/read/29208544/mandibuloacral-dysplasia-a-premature-ageing-disease-with-aspects-of-physiological-ageing
#8
REVIEW
Vittoria Cenni, Maria Rosaria D'Apice, Paolo Garagnani, Marta Columbaro, Giuseppe Novelli, Claudio Franceschi, Giovanna Lattanzi
Mandibuloacral dysplasia (MAD) is a rare genetic condition characterized by bone abnormalities including localized osteolysis and generalized osteoporosis, skin pigmentation, lipodystrophic signs and mildly accelerated ageing. The molecular defects associated with MAD are mutations in LMNA or ZMPSTE24 (FACE1) gene, causing type A or type B MAD, respectively. Downstream of LMNA or ZMPSTE24 mutations, the lamin A precursor, prelamin A, is accumulated in cells and affects chromatin dynamics and stress response...
December 2, 2017: Ageing Research Reviews
https://www.readbyqxmd.com/read/29204384/approach-to-a-child-with-primary-immunodeficiency-made-simple
#9
REVIEW
Dhrubajyoti Sharma, Ankur K Jindal, Amit Rawat, Surjit Singh
Primary immunodeficiency disorders (PIDs) are a group of disorders affecting the capability to fight against infection. These include defects in T cells and B cells affecting cell-mediated and humoral immunity, respectively, combined humoral and cell-mediated immunodeficiency, defects in phagocytosis, complement defects, and defects in cytokine or cytokine signalling pathways which are detrimental for immune function. Depending upon the type and severity, age at onset of symptoms can vary from neonatal period to late childhood...
November 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29200486/a-minimally-invasive-technique-using-a-modified-stoppa-approach-for-periacetabular-osteotomy-a-preliminary-cadaveric-study
#10
Turgut Akgul, Osman Coskun, Murat Korkmaz, Ilke Ali Gurses, Cengiz Sen, Ozcan Gayretli
Background: Developmental hip dysplasia is diagnosed when the femoral head is not sufficiently covered by the acetabulum. Anterior and lateral cover deficiency is seen, as a result a dysplastic hip joint. Various incision modifications have been developed because of the muscle dissection and wide wound scar in Smith-Peterson incision, which was originally used in Bernese osteotomy. This study evaluates applicability of the modified Stoppa approach in the performance of Bernese periacetabular osteotomy (PAO)...
November 2017: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/29197384/involvement-of-the-bone-morphogenic-protein-smad-signaling-pathway-in-the-etiology-of-congenital-anomalies-of-the-kidney-and-urinary-tract-accompanied-by-cryptorchidism
#11
Kentaro Mizuno, Akihiro Nakane, Hidenori Nishio, Yoshinobu Moritoki, Hideyuki Kamisawa, Satoshi Kurokawa, Taiki Kato, Ryosuke Ando, Tetsuji Maruyama, Takahiro Yasui, Yutaro Hayashi
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT), such as renal dysplasia, hydronephrosis, or vesicoureteral reflux, are the most common causes of end-stage renal disease. However, the genetic etiology of CAKUT remains unclear. In this study, we performed whole exome sequencing (WES) to elucidate the genetic etiology of symptomatic CAKUT and CAKUT accompanied by cryptorchidism. METHODS: Three patients with unilateral renal dysplasia accompanied by ipsilateral cryptorchidism were included in this analysis...
December 2, 2017: BMC Urology
https://www.readbyqxmd.com/read/29192304/association-of-hearing-loss-and-otologic-outcomes-with-fibrous-dysplasia
#12
Alison M Boyce, Carmen Brewer, Timothy R DeKlotz, Christopher K Zalewski, Kelly A King, Michael T Collins, H Jeffrey Kim
Importance: Fibrous dysplasia (FD) and McCune-Albright syndrome (MAS) are rare bone and endocrine disorders in which expansile fibro-osseous lesions result in deformity, pain, and functional impairment. The effect of FD on hearing and otologic function has not been established. Objectives: To characterize audiologic and otologic manifestations in a large cohort of individuals with FD/MAS and to investigate potential mechanisms of hearing loss. Design, Setting, and Participants: In this natural history study, individuals with craniofacial FD seen at a clinical research center underwent clinical, biochemical, computed tomographic, audiologic, and otolaryngologic evaluations...
November 30, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/29192005/successful-reversal-of-furosemide-induced-secondary-hyperparathyroidism-with-cinacalcet
#13
Tarak Srivastava, Shahryar Jafri, William E Truog, Judith Sebestyen VanSickle, Winston M Manimtim, Uri S Alon
Secondary hyperparathyroidism (SHPT) is a rare complication of furosemide therapy that can occur in patients treated with the loop diuretic for a long period of time. We report a 6-month-old 28-weeks premature infant treated chronically with furosemide for his bronchopulmonary dysplasia, who developed hypocalcemia and severe SHPT, adversely affecting his bones. Discontinuation of the loop diuretic and the addition of supplemental calcium and calcitriol only partially reversed the SHPT, bringing serum parathyroid hormone level down from 553 to 238 pg/mL...
December 2017: Pediatrics
https://www.readbyqxmd.com/read/29188758/utility-of-intraoperative-computed-tomography-for-cochlear-implantation-in-patients-with-difficult-anatomy
#14
Christine S Kim, Alice Z Maxfield, David Foyt, Robert J Rapoport
OBJECTIVE AND IMPORTANCE: To describe cases that illustrate the utility of intraoperative computed tomography (CT) in cochlear implantation of patients with difficult temporal bone anatomy. CLINICAL PRESENTATION: A 2-year-old male with congenital X-linked stapes gusher syndrome and a 2-year-old female with enlarged vestibular aqueduct underwent successful cochlear implantation with the help of intraoperative CT. In the latter case, the initial intraoperative C-arm fluoroscopy suggested malposition of the electrode, however, was not able to provide details for adjustments...
November 30, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/29188193/the-use-of-flow-cytometry-in-myelodysplastic-syndromes-a-review
#15
REVIEW
Laiz Cameirão Bento, Rodolfo Patussi Correia, Cristóvão Luis Pitangueiras Mangueira, Rodrigo De Souza Barroso, Fernanda Agostini Rocha, Nydia Strachman Bacal, Luciana Cavalheiro Marti
Myelodysplastic syndromes (MDSs) are a heterogeneous group of hematopoietic stem cell diseases categorized by dysplasia in one or more hematopoietic cell lineages, as well as cytopenia and functional abnormalities in bone marrow cells. Several MDS classification methods have been proposed to categorize the disease and help professionals better plan in patients' treatment. The World Health Organization classification, released in 2008 and revised in 2016, is the currently and the most used classification method worldwide...
2017: Frontiers in Oncology
https://www.readbyqxmd.com/read/29184807/zoledronic-acid-in-pediatric-metabolic-bone-disorders
#16
REVIEW
Sasigarn A Bowden, John D Mahan
Zoledronic acid (ZA), a highly potent intravenous bisphosphonate (BP), has been increasingly used in children with primary and secondary osteoporosis due to its convenience of shorter infusion time and less frequent dosing compared to pamidronate. Many studies have also demonstrated beneficial effects of ZA in other conditions such as hypercalcemia of malignancy, fibrous dysplasia (FD), chemotherapy-related osteonecrosis (ON) and metastatic bone disease. This review summarizes pharmacologic properties, mechanism of action, dosing regimen, and therapeutic outcomes of ZA in a variety of metabolic bone disorders in children...
October 2017: Translational pediatrics
https://www.readbyqxmd.com/read/29184270/recurrent-psammomatoid-juvenile-ossifying-fibroma-with-aneurysmal-bone-cyst-an-unusual-case-presentation
#17
Swati S Gotmare, Avinash Tamgadge, Sandhya Tamgadge, Kashmira S Kesarkar
Juvenile ossifying fibroma (JOF) is a rare, benign, locally aggressive entity of the extragnathic craniofacial bones with a high tendency towards recurrence. Two distinctive microscopic patterns of juvenile ossifying fibroma have been described: a trabecular juvenile ossifying fibroma (TrJOF) and a psammomatoid juvenile ossifying fibroma (PJOF). Psammomatoid variant is predominantly a craniofacial lesion and occurs rarely in the jaws. The pathognomonic histopathologic feature is the presence of spherical ossicles, which are similar to psammoma bodies...
November 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29178448/expanding-the-clinical-spectrum-of-phenotypes-caused-by-pathogenic-variants-in-plod2
#18
Gabriela Ferraz Leal, Gen Nishimura, Ulrika Voss, Débora Romeo Bertola, Eva Åström, Johan Svensson, Guilherme Lopes Yamamoto, Anna Hammarsjö, Eva Horemuzova, Nikos Papadiogannakis, Erik Iwarsson, Giedre Grigelioniene, Emma Tham
Osteogenesis imperfecta (OI) is a strikingly heterogeneous group of disorders with a broad range of phenotypic variations. It is also one of the differential diagnoses in bent bone dysplasias along with campomelic dysplasia and thanatophoric dysplasia and can usually be distinguished by decreased bone mineralization and bone fractures. Bent bone dyplasias also include syndromes such as kyphomelic dysplasia [MIM:211350] and mesomelic dysplasia Kozlowski-Reardon [MIM249710], both of which have been under debate regarding whether or not they are a real entity or simply a phenotypic manifestation of another dysplasia including OI...
November 27, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29175271/gnathodiaphyseal-dysplasia-severe-atypical-presentation-with-novel-heterozygous-mutation-of-the-anoctamin-gene-ano5
#19
Ghada A Otaify, Michael P Whyte, Gary S Gottesman, William H McAlister, J Eric Gordon, Abby Hollander, Marisa V Andrews, Samir K El-Mofty, Wei-Shen Chen, Deborah V Novack, Marina Stolina, Albert Woo, Panagiotis Katsonis, Olivier Lichtarge, Fan Zhang, Marwan Shinawi
Gnathodiaphyseal dysplasia (GDD; OMIM #166260) is an ultra-rare autosomal dominant disorder caused by heterozygous mutation in the anoctamin 5 (ANO5) gene and features fibro-osseous lesions of the jawbones, bone fragility with recurrent fractures, and bowing/sclerosis of tubular bones. The physiologic role of ANO5 is unknown. We report a 5-year-old boy with a seemingly atypical and especially severe presentation of GDD and unique ANO5 mutation. Severe osteopenia was associated with prenatal femoral fractures, recurrent postnatal fractures, and progressive bilateral enlargement of his maxilla and mandible beginning at ~2months-of-age that interfered with feeding and speech and required four debulking operations...
November 21, 2017: Bone
https://www.readbyqxmd.com/read/29174089/uncommon-runs-of-homozygosity-disclose-homozygous-missense-mutations-in-two-ciliopathy-related-genes-spag17-and-wdr35-in-a-patient-with-multiple-brain-and-skeletal-anomalies
#20
Carlos Córdova-Fletes, Luis E Becerra-Solano, Martha M Rangel-Sosa, Ana María Rivas-Estilla, Kame Alberto Galán-Huerta, Rocío Ortiz-López, Augusto Rojas-Martínez, Clara I Juárez-Vázquez, José E García-Ortiz
We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia (CED) ciliopathy, who unusually carries several homozygosity tracts involving homozygous missense mutations in SPAG17 (exon 8; c.1069G > C; p.Asp357His) and WDR35 (exon 13; c.1415G > A; p.Arg472Gln) as revealed by homozygosity mapping and next generation sequencing. SPAG17 is essential for the function and structure of motile cilia, while WDR35 belongs to the same intraflagellar transport (IFT) gene family whose protein products are part of functional IFT A and B complexes...
November 23, 2017: European Journal of Medical Genetics
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