Read by QxMD icon Read

bone dysplasias

Kristen S Pan, John D Heiss, Sydney M Brown, Michael T Collins, Alison M Boyce
Fibrous dysplasia (FD) is a mosaic disorder of benign fibro-osseous lesions, which may be associated with extraskeletal features as part of McCune-Albright syndrome (MAS). Cranial base abnormalities, including Chiari I malformation (CM1), in which the cerebellum extends below the foramen magnum, and secondary basilar invagination (BI), in which the odontoid prolapses into the posterior cranial fossa, are potentially serious complications of metabolic bone disorders. The purpose of this study was to determine the prevalence, natural history, and risk factors for CM1 and BI in patients with FD/MAS, and to determine mechanisms of cranial base deformities...
June 20, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Jean E Goasguen, John M Bennett, Barbara J Bain, Richard Brunning, Maria-Teresa Vallespi, Masao Tomonaga, Gina Zini, Alain Renault
An evaluation of the significance of specified dyserythropoietic features in suspected myelodysplastic syndrome (MDS) and acute myeloid leukaemia with erythroid dysplasia was made by means of evaluation of 100 electronic images of bone marrow erythroblasts from each of 20 subjects: 11 with a myeloid neoplasm, six with another condition that could cause erythroid dysplasia and three healthy controls. The evaluation was carried out independently by seven experienced haematologists/haematopathologists who were blinded to the diagnosis...
June 19, 2018: British Journal of Haematology
Akira Matsuda, Hiroshi Kawabata, Kaoru Tohyama, Tomoya Maeda, Kayano Araseki, Tomoko Hata, Takahiro Suzuki, Hidekazu Kayano, Kei Shimbo, Kensuke Usuki, Shigeru Chiba, Takayuki Ishikawa, Nobuyoshi Arima, Masaharu Nohgawa, Akiko Ohta, Yasushi Miyazaki, Sinnji Nakao, Keiya Ozawa, Shunya Arai, Mineo Kurokawa, Kinuko Mitani, Akifumi Takaori-Kondo
The diagnosis of myelodysplastic syndromes (MDS) is based on morphology and cytogenetics. However, limited information is currently available on the interobserver concordance of the assessment of dysplastic lineages (<10% or ≥10% in bone marrow (BM)). The revised International Prognostic Scoring System (IPSS-R) described a new threshold (2%) for BM blasts. However, the interobserver concordance of the categories (0-≤2% and >2-<5%) has limited data. The purpose of the present study was to investigate the assessment of dysplastic lineages and IPSS-R reproducibility...
June 7, 2018: Leukemia Research
Yu Isobe, Katsu Takahashi, Honoka Kiso, Kazumasa Nakao, Masayuki Ikeno, Noriaki Koyama, Manabu Sugai, Akira Shimizu, Hironori Haga, Kazuhisa Bessho
OBJECTIVE: Fibrous dysplasia (FD) is a benign bone disease characterized by fibro-osseous lesions. FD is caused by somatic mutations in the gene, guanine nucleotide-binding protein, alpha stimulating activity polypeptide 1 (GNAS), which encodes the G protein subunit, Gsα. FD manifests early in life, but the growth of lesions usually ceases in adulthood. FD lesions often exhibit somatic mutation mosaicism. In this study, the relationship between lesion growth and mutation prevalence within a lesion was investigated...
May 30, 2018: Archives of Oral Biology
Chenshuang Li, Zhong Zheng, Pin Ha, Xiaoyan Chen, Wenlu Jiang, Shan Sun, Feng Chen, Greg Asatrian, Emily A Berthiaume, Jong Kil Kim, Eric C Chen, Shen Pang, Xinli Zhang, Kang Ting, Chia Soo
Contactin-associated protein-like 4 (Cntnap4) is a member of the neurexin superfamily of transmembrane molecules that have critical functions in neuronal cell communication. Cntnap4 knockout mice display decreased presynaptic gamma-aminobutyric acid (GABA) and increased dopamine release that is associated with severe, highly penetrant, repetitive, and perseverative movements commonly found in human autism spectrum disorder patients. However, no known function of Cntnap4 has been revealed besides the nervous system...
June 15, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Monique F Smeets, Shuh Ying Tan, Jane Jialu Xu, Govardhan Anande, Ashwin Unnikrishnan, Alistair M Chalk, Scott R Taylor, John E Pimanda, Meaghan Wall, Louise E Purton, Carl R Walkley
Mutations in SRSF2 occur in myelodysplastic (MDS) and myelodysplastic/myeloproliferative (MDS/MPN) syndromes. SRSF2 mutations cluster at proline 95, with the most frequent a histidine (P95H) substitution. They undergo positive selection, arise early in the course of disease and have been identified in age-related clonal hemopoiesis. It is not clear how mutation of SRSF2 modifies hemopoiesis and contributes to the development of myeloid bias and MDS/MPN. Two prior mouse models of Srsf2P95H mutation have been reported, however these models do not recapitulate many of the clinical features of SRSF2 mutant disease and relied on bone marrow transplantation stress to elicit the reported phenotypes...
June 14, 2018: Blood
L A Nikolenko, E S Shopova, E S Golovneva, E S Nikolenko
Due to current options of cardiac surgery, operations on the heart of elderly patients have become routine in specialized cardiosurgical centers. The issue of pre- and postoperative anemia of different nature is essential in surgical correction of heart valves and coronary bypass. AIM: To study indexes of red blood in elderly patients with ischemic heart disease (IHD) and pathology of heart valves before and after surgical correction, including the relationship with position and type of the prosthesis...
2018: Kardiologiia
Amina Al-Yassin, Alistair D Calder, Mike Harrison, Tracy Lester, Helen Lord, Michael Oldridge, Sophie Watkins, Richard Keen, Emma L Wakeling
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant skeletal dysplasia characterised by metaphyseal flaring of the long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, brachydactyly, dental anomalies and mild osteoporosis. To date, only one large French Canadian family and a Finnish woman have been reported with the condition. In both, intragenic duplication encompassing exons 3-5 of the RUNX2 gene was identified. We describe a new, three-generation family with clinical features of MDMHB and an intragenic tandem duplication of RUNX2 exons 3-6...
June 11, 2018: European Journal of Human Genetics: EJHG
Anita Geevarghese, John Mascarenhas
Chronic myelomonocytic leukemia (CMML) is a relatively uncommon hematologic malignancy that manifests as peripheral monocytosis, has varying degrees of bone marrow dysplasia, and is associated with poor outcomes. Despite a growing appreciation of the pathobiologic mechanisms driving CMML, current therapies have not clearly demonstrated any survival benefit. The complex pathobiology of CMML highlights the intricate aberrantly activated cellular pathways that influence disease phenotype and limit current treatment options...
May 23, 2018: Clinical Lymphoma, Myeloma & Leukemia
Qiming Xu, Nan Wu, Lijia Cui, Mao Lin, D Thirumal Kumar, C George Priya Doss, Zhihong Wu, Jianxiong Shen, Xiangjian Song, Guixing Qiu
Non-randomly distributed missense mutations of Filamin B ( FLNB ) can lead to a spectrum of autosomal dominant-inherited skeletal malformations caused by bone hypoplasia, including Larsen syndrome (LS), atelosteogenesi-I (AO-I), atelosteogenesi-I (AO-III) and boomerang dysplasia (BD). Among this spectrum of diseases, LS causes a milder hypoplasia of the skeletal system, compared to BD's much more severe symptoms. Previous studies revealed limited molecular mechanisms of FLNB- related diseases but most of them were carried out with HEK293 cells from the kidney which could not reproduce FLNB' s specificity to skeletal tissues...
2018: American Journal of Translational Research
Safoura Seifi, Ramin Foroghi, Arezo Rayyani, Marjan Kiani, Mohamad Reza Mohammadi
Ossifying fibroma is a benign osteogenic mesenchymal tumor that is classified in the fibro-osseous lesions. Fibro-osseous lesions contain minerals, blood vessels, and giant cells that have the same radiographic and pathologic features but have different clinical behaviors, and were replaced with the normal bone. These lesions include fibrous dysplasia, cemento-osseous dysplasia, and ossifying fibroma. Juvenile ossifying fibroma is a type of uncommon and has invasive behavior, high incidence and occurs in young men, especially in maxilla, and is different from the type of adult in age, location, and clinical behavior and microscopic view...
June 2018: Indian Journal of Surgical Oncology
Lita Sacks
OBJECTIVE: This paper reports the first published case of a prehistoric human with five or more supernumerary teeth. Such cases are often neglected in paleopathology, in part due to a gap between the medicodental and anthropological literature leading to the view in anthropology that supernumerary teeth are curious anomalies rather than pathologies. DESIGN: Reconstruction and pathological description of the skeletal remains were performed according to standard osteological protocols...
June 4, 2018: Archives of Oral Biology
Florian Schmidutz, Johannes Roesner, Thomas R Niethammer, Alexander C Paulus, Bernhard Heimkes, Patrick Weber
BACKGROUND: Surgical treatment of late diagnosed development dysplasia of the hip (DDH) remains challenging with several methods being described. We therefore retrospectively evaluated the outcome of salter innominate osteotomy (SIO) in patients with fully grown bone, to evaluate whether this surgical procedure allows sufficient acetabular correction. MATERIAL AND METHODS: Between 2004-2012 SIO had been performed in 45 patients (49 hips) with late diagnosed DDH...
June 7, 2018: Orthopaedics & Traumatology, Surgery & Research: OTSR
Nicole Todd, Julia E Boucher, Mylène Bassal, Tania Dumont, Nathalie Fleming
BACKGROUND: An 18-month-old female presenting with severe vulvar ulcers and pancytopenia with investigations revealing P.aeruginosa bacteremia. CASE: Previously healthy 18-month-old female presented with 6 days of fevers, vulvar rash and ulcers. Vulvar cultures demonstrated S.aureus and P.aeruginosa. Bloodwork showed pancytopenia and P.aeruginosa bacteremia. She started broad spectrum antibiotics. Bone marrow aspirate revealed a hypocellular marrow with erythroid dysplasia...
June 6, 2018: Journal of Pediatric and Adolescent Gynecology
Ghulam Murtaza, Adeel Khalid, Muhammad Armughan Ali, Arsalan Majeed Adam, Warisha Ikhlaq, Ayaz Ahmed
Lenz-Majewski Hyperostotic Dwarfism (LMHD) is an extremely rare congenital, sclerosing bone dysplasia that causes cranio-tubular hyperostosis, ectodermal dysplasia (cutis laxa and enamel hypoplasia), osseous dysgenesis of hands and feet with diaphyseal cortical thickening of tubular bones and intellectual disability. Only a few cases of this syndrome have been reported in the literature so far. We report another case of LMHD with cranio-tubular hyperostosis, cutis laxa, wide open anterior and posterior fontannels, hypertelorism and thickening of diaphysis of tubular bones in a six months old Pakistani female patient...
May 2018: JPMA. the Journal of the Pakistan Medical Association
Gizem Ürel-Demir, Pelin Ozlem Simsek-Kiper, Özlem Akgün-Doğan, Rahşan Göçmen, Zheng Wang, Naomichi Matsumoto, Noriko Miyake, Gülen Eda Utine, Gen Nishimura, Shiro Ikegawa, Koray Boduroglu
Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, is a rare autosomal recessive disorder of the skeleton characterized by disproportionate short stature with narrow chest and dysmorphic facial features. The skeletal manifestations include platyspondyly, short flared ribs, short tubular bones with abnormal metaphyses and epiphyses, severe brachydactyly, and premature stippled calcifications in the cartilage. The abnormal calcifications are so distinctive as to point to the definitive diagnosis...
June 8, 2018: Journal of Human Genetics
Sultana Monira Hussain, Ilana N Ackerman, Yuanyuan Wang, Ella Zomer, Flavia M Cicuttini
BACKGROUND: Approaches for the prevention and treatment of hip osteoarthritis (OA) remain limited. There are recent data suggesting that low birth weight (LBW) and preterm birth may be risk factors for hip osteoarthritis. This has the potential to change the current paradigm of hip osteoarthritis prevention by targeting early life factors. The aim of this review was to examine the available evidence for an association of LBW and preterm birth with hip OA. The potential cost implications associated with total hip arthroplasty were also evaluated...
June 8, 2018: Arthritis Research & Therapy
Celia L Gregson, Felicity Newell, Paul J Leo, Graeme R Clark, Lavinia Paternoster, Mhairi Marshall, Vincenzo Forgetta, John A Morris, Bing Ge, Xiao Bao, J H Duncan Bassett, Graham R Williams, Scott E Youlten, Peter I Croucher, George Davey Smith, David M Evans, John P Kemp, Matthew A Brown, Jon H Tobias, Emma L Duncan
BACKGROUND: Generalised high bone mass (HBM), associated with features of a mild skeletal dysplasia, has a prevalence of 0.18% in a UK DXA-scanned adult population. We hypothesized that the genetic component of extreme HBM includes contributions from common variants of small effect and rarer variants of large effect, both enriched in an extreme phenotype cohort. METHODS: We performed a genome-wide association study (GWAS) of adults with either extreme high or low BMD...
June 5, 2018: Bone
Mrinal M Patnaik, Ayalew Tefferi
DISEASE OVERVIEW: Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell disorder with overlapping features of myelodysplastic syndromes and myeloproliferative neoplasms, with an inherent risk for leukemic transformation (∼15%-20% over 3-5 years). DIAGNOSIS: Diagnosis is based on the presence of sustained (>3 months) peripheral blood monocytosis (≥1 × 109 /L; monocytes ≥10%), along with bone marrow dysplasia. Clonal cytogenetic abnormalities occur in ∼ 30% of patients, while >90% have gene mutations...
June 2018: American Journal of Hematology
Angel Ashikov, Nurulamin Abu Bakar, Xiao-Yan Wen, Marco Niemeijer, Glentino Rodrigues Pinto Osorio, Koroboshka Brand-Arzamendi, Linda Hasadsri, Hana Hansikova, Kimiyo Raymond, Dorothée Vicogne, Marleen E H Simon, Rolph Pfundt, Sharita Timal, Roel Beumers, Christophe Biot, Roel Smeets, Marjan Kersten, Karin Huijben, Peter Ta Linders, Geert van den Bogaart, Sacha A F T van Hijum, Richard Rodenburg, Lambertus P van den Heuvel, Francjan van Spronsen, Tomas Honzik, Francois Foulquier, Monique van Scherpenzeel, Dirk J Lefeber
Genomics methodologies have significantly improved elucidation of Mendelian disorders. The combination with high-throughput functional-omics technologies potentiates the identification and confirmation of causative genetic variants, especially in singleton families of recessive inheritance. In a cohort of 99 individuals with abnormal Golgi glycosylation, 47 of which being unsolved, glycomics profiling was performed of total plasma glycoproteins. Combination with whole-exome sequencing in 31 cases revealed a known genetic defect in 15 individuals...
June 5, 2018: Human Molecular Genetics
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"