30,305 results match your criteria Multiple Epiphyseal Dysplasia


An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

Hum Mol Genet 2020 Jun 12. Epub 2020 Jun 12.

Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom.

We investigated the genetic origin of the phenotype of three children from two unrelated Italian families presenting with a previously-unrecognized, seemingly autosomal recessive disorder that included a severe form of spondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), as well as some brain anomalies that were visible at the MRI. Autozygome-based analysis showed that these children shared a 4.6 Mb region of homozygosity on chromosome 1, with an identical haplotype. Read More

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http://dx.doi.org/10.1093/hmg/ddaa112DOI Listing
June 2020
6.393 Impact Factor

Unique skeletal manifestations in patients with Primrose syndrome.

Eur J Med Genet 2020 Aug 27;63(8):103967. Epub 2020 May 27.

Institute of Medical Genetics and Genomics, New Delhi, India. Electronic address:

Primrose syndrome (OMIM 259050) is a rare disorder characterised by macrocephaly with developmental delay, a recognisable facial phenotype, altered glucose metabolism, and other features such as sensorineural hearing loss, short stature, and calcification of the ear cartilage. It is caused by heterozygous variants in ZBTB20, a member of the POK family of transcription repressors. Recently, this gene was shown to have a role in skeletal development through its action on chondrocyte differentiation by repression of SOX9. Read More

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http://dx.doi.org/10.1016/j.ejmg.2020.103967DOI Listing

A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.

BMC Med Genet 2020 May 27;21(1):115. Epub 2020 May 27.

Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No. 1 Shuaifuyuan, Beijing, 100730, China.

Background: Multiple epiphyseal dysplasia (MED) is a skeletal disorder characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. At least 66% of the reported autosomal dominant MED (AD-MED) cases are caused by COMP mutations.

Methods: We recruited a four-generation Chinese family with early-onset hip osteoarthritis, flatfoot, brachydactyly, and mild short stature. Read More

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http://dx.doi.org/10.1186/s12881-020-01040-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251693PMC

Delayed-onset progressive pseudorheumatoid dysplasia with secondary synovial chondromatosis.

BMJ Case Rep 2020 May 18;13(5). Epub 2020 May 18.

Radiology, PGIMER, Chandigarh, India.

A 25-year-old man presented to us with progressive multiple joint pain, enlargement, and restricted movements. X-rays showed platyspondyly, multiple epiphyseal widening, synovial chondromatosis, and decreased bone stock and cortical thickness. Genetic testing showed biallelic pathogenic variants in CCN6 which confirmed the diagnosis of progressive pseudorheumatoid dysplasia. Read More

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http://dx.doi.org/10.1136/bcr-2020-234461DOI Listing

Multiple occurrence of premature polyarticular osteoarthritis in an early medieval Bohemian cemetery (Prague, Czech Republic).

Int J Paleopathol 2020 May 14;30:35-46. Epub 2020 May 14.

CNRS, UMR 5199 PACEA, Université de Bordeaux, Bât. B8, Allée Geoffroy St Hilaire, CS 50023, 33615 Pessac Cedex, France; Department of Archaeology, Durham University, South Road, Durham, DH1 3LE, United Kingdom. Electronic address:

Objectives: To highlight conditions that may cause early-onset degenerative joint disease, and to assess the possible impact of such diseases upon everyday life.

Material: Four adults aged under 50 years from a medieval skeletal collection of Prague (Czechia).

Methods: Visual, osteometric, X-ray, and histological examinations, stable isotope analysis of bone collagen. Read More

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http://dx.doi.org/10.1016/j.ijpp.2020.04.004DOI Listing

Joint Replacements in Individuals With Skeletal Dysplasias: One Institution's Experience and Response to Operative Complications.

J Arthroplasty 2020 Apr 9. Epub 2020 Apr 9.

Department of Orthopedic Surgery, Hospital for Special Surgery, New York, New York.

Background: Skeletal dysplasias are a heterogeneous group of >400 genetic disorders characterized by abnormal bone growth. Many individuals experience joint pain and limitation, coming to require joint replacement much earlier than the average-statured population. In addition, prosthesis survival rate is less in the dysplastic population. Read More

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http://dx.doi.org/10.1016/j.arth.2020.04.007DOI Listing

Orthodontic treatment in a patient with cherubism: Benefits and limitations.

Spec Care Dentist 2020 May 28;40(3):291-297. Epub 2020 Apr 28.

Department of Oral Diagnosis, Piracicaba Dental School, University of Campinas, Piracicaba, Brazil.

Aim: Cherubism is an uncommon hereditary disease that leads to the development of giant cell lesions in the jaws, alterations in the dentition, and malocclusion. The biological behavior of bones to orthodontic forces in these patients is not described in the literature, leading dentists to avoid this management. The aim of this article was to describe a case report of management with orthodontics. Read More

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http://dx.doi.org/10.1111/scd.12457DOI Listing

[Analysis of a case with gonadal mosaicism for COL1A2 variant].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 May;37(5):523-526

Prenatal Diagnosis Center, Department of Gynecology and Obstetrics, the Sixth Medical Center of PLA General Hospital, Beijing 100048, China.

Objective: To explore the genetic basis for a couple with normal phenotype but repeated pregnancies with fetuses affected by osteogenesis imperfecta.

Methods: Whole exome sequencing (WES) was carried out on fetal specimens and parental DNA to detect potential pathologic variants. Suspected variants were verified by Sanger sequencing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.05.007DOI Listing

[Phenotype-genotype analysis and detection of gene variant in six families with osteogenesis imperfecta].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 May;37(5):514-518

Department of Gynecology and Obstetrics, Shengjing Hospital Affiliated to China Medical University, Key Laboratory of Maternal Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China.

Objective: To analyze the clinical phenotype of six pedigrees affected with osteogenesis imperfecta and their genetic basis.

Methods: Peripheral blood or abortic tissues of the six pedigrees were collected for the extraction of genomic DNA. Next generation sequencing (NGS) was carried out to detect pathological variants in the genome. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.05.005DOI Listing

Pharmacokinetics and safety after once and twice a day doses of meclizine hydrochloride administered to children with achondroplasia.

PLoS One 2020 13;15(4):e0229639. Epub 2020 Apr 13.

Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Showa-ku, Nagoya, Aichi, Japan.

Achondroplasia (ACH) is the most common short-limbed skeletal dysplasia caused by activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. We identified that meclizine hydrochloride inhibited FGFR3 signaling in various chondrocytic cells and promoted longitudinal bone growth in mouse model of ACH. Meclizine has safely been used for more than 50 years, but it lacks the safety data for repeated administration and pharmacokinetics (PK) when administered to children. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0229639PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7153885PMC

Top Ten Adult Manifestations of Childhood Hip Disorders: An Up-To-Date Review for General Radiologists.

Radiol Clin North Am 2020 May;58(3):529-548

Department of Imaging Sciences, Strong Memorial Hospital, Box 648, 601 Elmwood Avenue, Rochester, NY 14642, USA.

Congenital, developmental, and acquired conditions of the pediatric hip frequently present with sequelae in the adult. There is substantial overlap in the end-stage results of these pathologic conditions, including osseous changes, chondral/labral injuries, and premature osteoarthritis. This review discusses the top 10 etiopathogeneses of pediatric hip conditions and presents associated dysmorphisms in the adult on an illustrative, multimodality, case-based template. Read More

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http://dx.doi.org/10.1016/j.rcl.2020.01.002DOI Listing

A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.

BMC Musculoskelet Disord 2020 Apr 7;21(1):216. Epub 2020 Apr 7.

Department of Biology & Medical Genetic, Hanoi Medical University, 1 Ton That Tung, Dong Da, Ha Noi, Viet Nam.

Background: Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia that is characterized by variable degrees of epiphyseal abnormality primarily involving the hip and knee joints. Mutations in a gene encoding matrilin-3 (MATN3) have been reported as disease causing of autosomal dominant MED. The current study identified a novel c. Read More

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http://dx.doi.org/10.1186/s12891-020-03222-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140548PMC

[Synchronous primary double: condrosarcoma and sarcoma high grade fusocelular associated with Maffucci syndrome].

Acta Ortop Mex 2019 Sep-Oct;33(5):325-328

Departamento de Piel y Partes Blandas del Instituto Nacional de Cancerología. Secretaría de Salud. Ciudad de México. México.

Maffucci syndrome is characterized by the presence of multiple enchondromes and hemangiomas that can affect soft tissues and other organs. The risk of malignant transformation of lesions is 100% during the life of the individual, with chondrosarcoma being the most frequently associated malignant tumor. We present the case of a 44-year-old man diagnosed with Maffucci syndrome who developed a synchronous double primary: chondrosarcoma and high-grade multicenter fusocellular sarcoma of scapular and tricipital region, was treated with disarticulation interscapule-thoracic, presented accelerated progression and lung disease. Read More

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Exploring the Perceived Self-management Needs of Young Adults With Osteogenesis Imperfecta.

Clin Nurse Spec 2020 May/Jun;34(3):99-106

Author Affiliations: McGill University, Ingram School of Nursing (Mss Michalovic and Anderson and Drs Rauch and Tsimicalis); and Shriners Hospitals for Children (Ms Thorstad and Drs Rauch and Tsimicalis), Montreal, Quebec, Canada.

Purpose: To explore the perceived self-management needs of young adults with osteogenesis imperfecta (OI) with the goal of optimizing the self-management and transitional care services.

Methods: A qualitative descriptive study was performed with young adults diagnosed with OI. Two semistructured interviews were conducted before and after their first appointment with a nurse practitioner in the adult healthcare settings (a new partnership initiated by the pediatric hospital). Read More

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http://dx.doi.org/10.1097/NUR.0000000000000517DOI Listing

The characteristics of the whole pelvic morphology in slipped capital femoral epiphysis: A retrospective observational study.

Medicine (Baltimore) 2020 Apr;99(14):e19600

Slipped capital femoral epiphysis (SCFE) is a very common disorder affecting the adolescent hip. The etiology of SCFE is multifactorial and mechanical force associated with the characteristic morphology of the hip is considered one of the causes of SCFE. We investigated the characteristics of whole pelvic morphology including pelvic incidence (PI) in patients with SCFE and compared it with pelvic morphology in healthy children. Read More

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http://dx.doi.org/10.1097/MD.0000000000019600DOI Listing

Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report.

BMC Med Genet 2020 03 30;21(1):64. Epub 2020 Mar 30.

Severn Pathology, Paediatric and Perinatal Pathology, Southmead Hospital, North Bristol NHS Trust, Bristol, UK.

Background: The calcium-selective channel TRPV6 (transient receptor potential cation channel subfamily V member 6) is crucial for maternal-fetal calcium transport across the placenta. TRPV6 mutations have recently been associated with an antenatally severe under-mineralising skeletal dysplasia accompanied by postnatal biochemical abnormalities. This is the first post-mortem report in a patient with TRPV6 skeletal dysplasia. Read More

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http://dx.doi.org/10.1186/s12881-020-01007-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106792PMC

A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary.

BMC Med Genet 2020 03 27;21(1):61. Epub 2020 Mar 27.

HAS-UD Vascular Biology and Myocardial Pathophysiology Research Group, Hungarian Academy of Sciences, 98, Nagyerdei krt, Debrecen, H-4032, Hungary.

Background: Wolcott-Rallison Syndrome (WRS) is a rare autosomal recessive disease that is the most common cause of neonatal diabetes in consanguineous families. WRS is caused by various genetic alterations of the Eukaryotic Translation Initiation Factor 2-Alpha Kinase 3 (EIF2AK3) gene.

Methods: Genetic analysis of a consanguineous family where two children were diagnosed with WRS was performed by Sanger sequencing. Read More

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http://dx.doi.org/10.1186/s12881-020-0985-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7099831PMC

Characterisation of ACP5 missense mutations encoding tartrate-resistant acid phosphatase associated with spondyloenchondrodysplasia.

PLoS One 2020 26;15(3):e0230052. Epub 2020 Mar 26.

Department of Medical Biochemistry, Dr. ALM-PGIBMS, University of Madras, Madras, India.

Biallelic mutations in ACP5, encoding tartrate-resistant acid phosphatase (TRACP), have recently been identified to cause the inherited immuno-osseous disorder, spondyloenchondrodysplasia (SPENCD). This study was undertaken to characterize the eight reported missense mutations in ACP5 associated with SPENCD on TRACP expression. ACP5 mutant genes were synthesized, transfected into human embryonic kidney (HEK-293) cells and stably expressing cell lines were established. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0230052PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7098635PMC

Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature.

Gene 2020 May 10;741:144565. Epub 2020 Mar 10.

Department 8 - Medicine of Mother and Child "Grigore T. Popa", University of Medicine and Pharmacy, Iasi, Romania.

Background: Osteogenesis imperfecta (OI) is a rare disease characterized by increased bone fragility and predisposition to fractures, bone deformities and other major signs such as dentinogenesis imperfecta, blue sclera and deafness. Over 90% of OI cases are caused by mutations in the COL1A1 and COL1A2 genes and the inheritance is autosomal dominant.

Methods: We present a case of a couple requesting genetic counseling, because the man was diagnosed with OI on a clinical and radiological basis and the woman was pregnant. Read More

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http://dx.doi.org/10.1016/j.gene.2020.144565DOI Listing
May 2020
2.138 Impact Factor

[Genotypes and phenotypes of nine Uygur children with osteogenesis imperfecta in Xinjiang].

Zhonghua Er Ke Za Zhi 2020 Feb;58(2):135-139

Department of Pediatrics, First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, China.

To explore the genotypes and phenotypes of osteogenesis imperfecta (OI) in Xinjiang Uygur children. The history of nine Uygur children with OI who were hospitalized in First Affiliated Hospital of Xinjiang Medical University from January 2013 to December 2017 were retrospectively reviewed. They were classified into 4 types according to the classical Sillence classification. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2020.02.013DOI Listing
February 2020

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review.

Medicine (Baltimore) 2020 Feb;99(8):e19169

Laboratory of Medical Genetics.

Introduction: KIAA0586 variants have been associated to short-rib thoracic dysplasia, an autosomal recessive skeletal ciliopathy characterized by a narrow thorax, short limbs, and radiological skeletal abnormalities.

Patient Concerns: Patients 1 and 2 were two Roma Gypsy siblings presenting thoracic dysplasia and a combination of oral cavity anomalies.

Diagnosis: A custom NGS gene panel, including genes associated to skeletal ciliopathies, identified the homozygous KIAA0586 splicing variant c. Read More

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http://dx.doi.org/10.1097/MD.0000000000019169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034684PMC
February 2020

Management of Two Cases of Supernumerary Teeth.

Pediatr Dent 2020 Jan;42(1):58-61

Dr. Hu a professor, Department of Biologic and Materials Sciences & Prosthodontics, University of Michigan School of Dentistry, Ann Arbor, Mich., USA.

Supernumerary teeth are commonly observed as an isolated developmental anomaly. While the familial tendency of supernumerary teeth has been documented, its genetic causality has not yet been determined. The purpose of this paper was to presents two cases with supernumerary teeth and the process leading to the diagnosis and determination of their underlying conditions. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7199519PMC
January 2020

[A young man with a painless swelling of the ankle].

Ned Tijdschr Geneeskd 2019 11 28;163. Epub 2019 Nov 28.

Isala, afd. Orthopedie, Zwolle.

A 15-year-old boy presented with a swelling on the dorsolateral side of his right ankle. The swelling was moveable and painless. Radiography showed an exostosis with irregular calcification behind the talus. Read More

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November 2019

Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with -related Dysplasia.

Int J Biol Sci 2020 16;16(5):859-868. Epub 2020 Jan 16.

Department of Osteoporosis and Bone Diseases, Metabolic Bone Disease and Genetics Research Unit, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yishan Road, Shanghai 200233, China.

-related disorders represent a heterogeneous group of skeletal dysplasias with a wide phenotypic spectrum. Our aim is to characterize the clinical and molecular phenotypes of Chinese patients with -related dysplasia and to explore their phenotype-genotype relations. Clinical data were collected, physical examinations were conducted, and X-ray radiography and genetic analyses were performed in ten families involving 29 patients with -related dysplasia. Read More

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http://dx.doi.org/10.7150/ijbs.38811DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7019135PMC
January 2020
4.509 Impact Factor

DIAGNOSIS OF ENDOCRINE DISEASE: Mosaic disorders of FGF23 excess: Fibrous dysplasia/McCune-Albright syndrome and cutaneous skeletal hypophosphatemia syndrome.

Eur J Endocrinol 2020 May;182(5):R83-R99

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA.

Fibrous dysplasia/McCune-Albright Syndrome (FD/MAS), arising from gain-of-function mutations in Gαs, and cutaneous skeletal hypophosphatemia syndrome (CSHS), arising from gain-of-function mutations in the Ras/MAPK pathway, are strikingly complex, mosaic diseases with overlapping phenotypes. Both disorders are defined by mosaic skin and bone involvement, and both are complicated by increased FGF23 production. These similarities have frequently led to mis-diagnoses, primarily in patients with CSHS who are often assumed to have FD/MAS. Read More

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http://dx.doi.org/10.1530/EJE-19-0969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7104564PMC

[Analysis of COL1A1 gene variants in five Chinese pedigrees affected with osteogenesis imperfecta].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Feb;37(2):123-126

Center of Genetics and Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.

Objective: To detect potential variants of COL1A1 gene in five Chinese pedigrees affected with osteogenesis imperfecta (OI) and provide prenatal diagnosis for a fetus at 11th gestational week.

Methods: The coding regions and exon/intron boundaries of 225 genes associated with bone diseases were subjected to targeted capture and next generation sequencing (NGS). Suspected mutations were verified with Sanger sequencing in the probands, unaffected relatives and 100 unrelated healthy controls. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.02.005DOI Listing
February 2020

Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).

Bone Rep 2020 Jun 11;12:100245. Epub 2020 Jan 11.

Department of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India.

Introduction: Spondylo-epi-metaphyseal dysplasia (SEMD) represents a group of osteo-chondrodysplasias characterized by vertebral, epiphyseal as well as metaphyseal abnormalities. Several genes have been identified underlying the different forms.

Methodology And Results: Two relatives (cousins) in a family were found to have disproportionate short stature with clinical and radiological features suggestive of SEMD. Read More

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http://dx.doi.org/10.1016/j.bonr.2020.100245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6997811PMC

Changes in gene expression in human skeletal stem cells transduced with constitutively active Gsα correlates with hallmark histopathological changes seen in fibrous dysplastic bone.

PLoS One 2020 30;15(1):e0227279. Epub 2020 Jan 30.

Department of Biology and Biotechnology, Sapienza University of Rome, Rome, Italy.

Fibrous dysplasia (FD) of bone is a complex disease of the skeleton caused by dominant activating mutations of the GNAS locus encoding for the α subunit of the G protein-coupled receptor complex (Gsα). The mutation involves a substitution of arginine at position 201 by histidine or cysteine (GsαR201H or R201C), which leads to overproduction of cAMP. Several signaling pathways are implicated downstream of excess cAMP in the manifestation of disease. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0227279PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6991960PMC

A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis.

Turk J Pediatr 2019 ;61(4):594-598

Departments of Pediatric Endocrinology, Ankara Children's Hematology and Oncology Training and Research Hospital, Ankara, Turkey.

Elmaoğulları S, Yıldız AE, Demir S, Gürkan H, Uçaktürk SA. A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis. Turk J Pediatr 2019; 61: 594-598. Read More

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http://dx.doi.org/10.24953/turkjped.2019.04.018DOI Listing

An increased bone mineral density is an adverse prognostic factor in patients with systemic mastocytosis.

J Cancer Res Clin Oncol 2020 Apr 24;146(4):945-951. Epub 2020 Jan 24.

Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Mannheim, Germany.

Purpose: Systemic mastocytosis (SM) is characterized by the expansion of clonal mast cells that infiltrate various organ systems. The extent of organ infiltration and subsequent organ damage distinguishes between indolent SM (ISM) defined by a nearly normal life expectancy and advanced SM (AdvSM) defined by poor prognosis. In ISM, measurement of the bone mineral density (BMD) frequently reveals osteoporosis. Read More

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http://dx.doi.org/10.1007/s00432-019-03119-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085471PMC

Osteogenesis imperfecta in a male holstein calf associated with a possible oligogenic origin.

Vet Q 2020 Dec;40(1):58-67

Institute of Veterinary Medicine, University of Goettingen, Göttingen, Germany.

Neuromusculoskeletal anomalies generally in combination with severe clinical symptoms, comprise a heterogeneous group of fairly common and mostly fatal disorders in man and animals. Osteogenesis imperfecta (OI), also known as brittle bone disease, causes bone fragility and deformity. Prominent extra-skeletal accessory manifestations of OI comprise blue/gray sclerae, hearing impairment, lung abnormalities and hypercalciuria. Read More

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http://dx.doi.org/10.1080/01652176.2020.1721611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034473PMC
December 2020

A case report of Proteus syndrome (PS).

BMC Med Genet 2020 01 21;21(1):15. Epub 2020 Jan 21.

Department of Endocrinology, ShenZhen Hospital, Southern Medical University, No. 1333, Xinhu Road, Shenzhen, 518100, Guangdong, China.

Background: Proteus syndrome (PS) is an extremely rare disease characterized by excessive chimeric growth of cells, and progressive and irregular asymmetrical hyperplasia.

Case Presentation: Herein, a PS case with atypical clinical features and syndromes was reported, to improve the understanding of the diagnosis and treatment of the disease. The case was a 3-year-and-11-month-old male child. Read More

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http://dx.doi.org/10.1186/s12881-020-0949-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975093PMC
January 2020

Transcriptome-based screening of intracellular pathways and angiogenesis related genes at different stages of thiram induced tibial lesions in broiler chickens.

BMC Genomics 2020 Jan 15;21(1):50. Epub 2020 Jan 15.

College of Animal Science and Veterinary Medicine, Shanxi Agricultural University, Taigu, 030801, China.

Background: The Tibial dyschondroplasia (TD) in fast-growing chickens is mainly caused by improper blood circulation. The exact mechanism underlying angiogenesis and vascularization in tibial growth plate of broiler chickens remains unclear. Therefore, this research attempts to study genes involved in the regulation of angiogenesis in chicken red blood cells. Read More

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http://dx.doi.org/10.1186/s12864-020-6456-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6964038PMC
January 2020

Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.

Prague Med Rep 2019 ;120(4):124-130

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

Asphyxiating thoracic dysplasia (ATD) represents a heterogeneous group of skeletal dysplasias with short ribs, narrow chest and reduced thoracic capacity. Mutations in several genes including IFT80, DYNC2H1, TTC21B and WDR19 have been found in patients with ATD. Both severe and milder course of the disease were described in correlation with secondary involvement of lung's function. Read More

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http://dx.doi.org/10.14712/23362936.2019.17DOI Listing
January 2020

Puerarin enhance vascular proliferation and halt apoptosis in thiram-induced avian tibial dyschondroplasia by regulating HIF-1α, TIMP-3 and BCL-2 expressions.

Ecotoxicol Environ Saf 2020 Mar 7;190:110126. Epub 2020 Jan 7.

College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, 430070, PR China; College of Animal Husbandry and Veterinary Medicine, Tibet Agricultural and Animal Husbandry University, Linzhi, 860000, China. Electronic address:

Tetramethyl thiuram disulfide (thiram) is a dithiocarbamate pesticide used for crop protection and storage. But, it's widespread utilization is associated with deleterious growth plate cartilage disorder in broilers termed as avian tibial dyschondroplasia (TD). TD results in non-mineralized and less vascularized proximal tibial growth plate cartilage causing lameness and poor growth performance. Read More

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http://dx.doi.org/10.1016/j.ecoenv.2019.110126DOI Listing

Upper Limb Ischaemia Caused by Cleidocranial Dysostosis.

Eur J Vasc Endovasc Surg 2020 04 2;59(4):556. Epub 2020 Jan 2.

Department of Vascular Surgery, Franciscus Gasthuis & Vlietland, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.ejvs.2019.12.005DOI Listing

Navigation-assisted endonasal endoscopic optic nerve decompression in fibrous dysplasia.

BMJ Case Rep 2019 Dec 29;12(12). Epub 2019 Dec 29.

Otorhinolaryngology and Head & Neck Surgery, All India Institute of Medical Sciences, New Delhi, India.

A 12-year-old girl presented with left-sided decreased vision of 2-month duration. Clinical evaluation and imaging revealed fibrous dysplasia compressing the left optic nerve with no underlying endocrinological abnormalities. Best-corrected visual acuity showed progressive deterioration of vision over 2-month follow-up. Read More

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http://dx.doi.org/10.1136/bcr-2019-230621DOI Listing
December 2019

Wolcott-Rallison Syndrome- Endocrinopathy with Recurrent Acute Liver Failure.

Indian Pediatr 2019 12;56(12):1055-1056

Department of Paediatric Hepatology, Institute of Liver Disease and Transplantation Dr Rela Institute and Medical Centre, Chennai, India; and Kings College Hospital, London, United Kingdom.

A 2-yr-old child with early onset diabetes and hypothyroidism, and diagnosed as Wolcott-Rallison Syndrome, developed two episodes of acute liver failure and recovered, but he remains at high risk of developing another episode of acute liver failure. Autoimmune, metabolic or genetic disorders should be evaluated in children with recurrent acute liver failure and genetic tests needs to be considered. Read More

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December 2019
1.014 Impact Factor

[Open Heart Surgery Using an Endotracheal Tube Introducer in a Patient with Tracheobronchopathia Osteochondroplastica;Report of a Case].

Kyobu Geka 2019 Dec;72(13):1097-1099

Department of Cardiovascular Surgery, Sakakibara Heart Institute, Fuchu, Japan.

A 65-year-old man with tracheobronchopathia osteochondroplastica was referred to our hospital for exertional dyspnea and was diagnosed with atrial septum defect( ASD). We planned to close the ASD under intubation but were unable to intubate due to osseous nodules in the tracheal wall. Four months later, the patient was successfully intubated using an endotracheal tube introducer. Read More

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December 2019

Finite-element analysis of the proximal tibial sclerotic bone and different alignment in total knee arthroplasty.

BMC Musculoskelet Disord 2019 Dec 26;20(1):617. Epub 2019 Dec 26.

Department of Orthopaedic Surgery, The First Hospital of Jilin University, Jilin University, Xinmin St 71, Chang Chun, China.

Background: Despite potential for improving patient outcomes, studies using three-dimensional measurements to quantify proximal tibial sclerotic bone and its effects on prosthesis stability after total knee arthroplasty (TKA) are lacking. Therefore, this study aimed to determine: (1) the distribution range of tibial sclerotic bone in patients with severe genu varum using three-dimensional measurements, (2) the effect of the proximal tibial sclerotic bone thickness on prosthesis stability according to finite-element modelling of TKA with kinematic alignment (KA), mechanical alignment (MA), and 3° valgus alignment, and (3) the effect of short extension stem augment utilization on prosthesis stability.

Methods: The sclerotic bone in the medial tibial plateau of 116 patients with severe genu varum was measured and classified according to its position and thickness. Read More

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http://dx.doi.org/10.1186/s12891-019-3008-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933927PMC
December 2019
1.898 Impact Factor

[Cleidocranial dysplasia: a case report and gene mutation analysis].

Hua Xi Kou Qiang Yi Xue Za Zhi 2019 Dec;37(6):677-680

Dept. of Oral and Maxillofacial Surgery, Affiliated Stomatological Hospital of Nanchang University, The Key Laboratory of Oral Biomedicine in Jiangxi Province, Nanchang 330006, China.

Cleidocranial dysplasia is a rare autosomal dominant hereditary disease characterized by abnormal skeletal and dental development. In this work, a case of cleidocranial dysplasia is reported, and a new frameshift mutation is confirmed by gene detection. Read More

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http://dx.doi.org/10.7518/hxkq.2019.06.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7030764PMC
December 2019

[Kidney tumor segmentation in ultrasound images using adaptive sub-regional evolution level set models].

Sheng Wu Yi Xue Gong Cheng Xue Za Zhi 2019 Dec;36(6):945-956

Department of Ultrasound, Tianjin Medical University Cancer Institute and Hospital, Tianjin 300060, P.R.China;National Clinical Research Center for Cancer, Tianjin 300060, P.R.China;KeyLaboraryof Cancer Prevention and Therapy, Tianjin 300060, P.R.China;Tianjin's Clinical Research Center for Cancer, Tianjin 300060, P.R.China.

Kidney tumor is one of the diseases threatening human health. Ultrasound is widely applied in kidney tumor diagnosis due to its high popularization, low price and no radiation. Accurate segmentation of kidney tumor is the basis of precise treatment. Read More

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http://dx.doi.org/10.7507/1001-5515.201902011DOI Listing
December 2019

Identification and expression analysis of microRNAs in tibial growth plate of chicken through thiram toxicity.

Environ Sci Pollut Res Int 2020 Feb 24;27(6):6628-6636. Epub 2019 Dec 24.

College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, 430070, PR China.

Thiram is a widely known tibial dyschondroplasia (TD) inducer. TD, a common metabolic cartilage disease, presents in rapidly growing poultry birds. There are evidences that miRNAs are involved in diverse aspects of normal skeletal development, but very less is known about the role of miRNAs in TD. Read More

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http://dx.doi.org/10.1007/s11356-019-06648-zDOI Listing
February 2020

Symptomatic Scapular Osteochondromas: Case report.

Tunis Med 2019 Jul;97(7):870-873

Osteochondroma is a developmental lesion rather than a true neoplasm. Osteochondromas are composed of cortical and medullary bone with an overlying hyaline cartilage cap and must demonstrate continuity with the underlying parent bone cortex and medullary canal. Osteochondromas may be solitary or multiple. Read More

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[Stepwise treatment for knee lesion of adult Kashin-Beck disease].

Zhongguo Gu Shang 2019 12;32(12):1082-1084

Department of Joint Surgery, Xi'an Honghui Hospital, Health Science Center, Xi'an Jiaotong University, Xi'an 710054, Shaanxi, China;

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http://dx.doi.org/10.3969/j.issn.1003-0034.2019.12.002DOI Listing
December 2019

Comparative Pathomorphologic Studies on the Incidence of Fractures Associated with Leg Skeletal Pathology in Commercial Broiler Chickens.

Avian Dis 2019 12;63(4):641-650

Department of Biochemistry and Microbiology, Faculty of Agriculture, Trakia University, 6000 Stara Zagora, Bulgaria.

The aim of the present investigation is to report the prevalence of spontaneous fractures associated with leg skeletal pathology and compromised welfare in commercial broiler chickens. Our studies focused on fractures of different leg segments (femur, tibiotarsus, tarsometatarsus) detected as incidental findings during pathoanatomic examinations in cases of rickets, tibial dyschondroplasia (TD), and femoral head necrosis (FHN). The morphogenetic and etiopathogenetic aspects of the findings were further investigated through histopathologic, bacteriologic, and bone mineral analyses. Read More

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http://dx.doi.org/10.1637/aviandiseases-D-19-00108DOI Listing
December 2019

Multiple calcaneal fibrous dysplasia: A case report.

Medicine (Baltimore) 2019 Dec;98(51):e18389

Department of Orthopedic Surgery, Chonbuk National University Medical School, Research Institute of Clinical Medicine of Chonbuk National University-Biomedical Research Institute of Chonbuk National University Hospital, Jeonju, South Korea.

Rationale: Fibrous dysplasia (FD) is a benign bone tumor due to developmental failure in the process of primitive bone remodeling to mature lamellar bone. The most common locations of monostotic FD of the extremity bones are the proximal femur, tibia, humerus and the radius. FD in the calcaneus is extremely rare and usually manifests clinically as a single bone lesion. Read More

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http://dx.doi.org/10.1097/MD.0000000000018389DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6940136PMC
December 2019

Malignant Infantile osteopetrosis.

Rev Chil Pediatr 2019 Aug;90(4):443-447

Centro Hematooncológico Pediátrico, Centro Hospitalario Pereira Rossell, Uruguay.

Introduction: Malignant Infantile Osteopetrosis (MIOP) is a rare and severe genetic disorder due to abnormal osteoclast activity.

Objective: To report an infant who presented Malignant Infantile Osteopetrosis, reviewing the most relevant diagnostic and therapeutic aspects.

Clinical Case: A ten- month-old male infant with diagnosis of MIOP confirmed after presenting thrombocytopenia and visceromegaly. Read More

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http://dx.doi.org/10.32641/rchped.v90i4.987DOI Listing

Development of molecular analysis by digital PCR for clinical practice: positioning, current applications and perspectives.

Ann Biol Clin (Paris) 2019 12;77(6):619-637

ID Solutions, Grabels, France, Service d'anatomie pathologique et neuropathologie, Assistance Publique Hôpitaux de Marseille, AP-HM, Marseille, France.

This review is the second part of the workshop on digital PCR (dPCR) proposed by the working group of the French society of clinical biology. The first part of the paper discusses the advantages and limitations of dPCR for the search of different molecular abnormalities such as point mutations, copy number variants, DNA methylation, RNA analysis and a more innovative application, the single-cell dPCR. This synthesis makes it possible to propose a positioning of the dPCR compared to the other available technologies in a medical laboratory. Read More

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http://dx.doi.org/10.1684/abc.2019.1502DOI Listing
December 2019