30,155 results match your criteria Schwartz-Jampel Syndrome


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

Perlecan knockdown significantly alters extracellular matrix composition and organization during cartilage development.

Mol Cell Proteomics 2020 May 7. Epub 2020 May 7.

Purdue University, United States

Perlecan is a critical proteoglycan found in the extracellular matrix (ECM) of cartilage. In healthy cartilage, perlecan regulates cartilage biomechanics and we previously demonstrated perlecan deficiency leads to reduced cellular and ECM stiffness in vivo. This change in mechanics may lead to the early onset osteoarthritis seen in disorders resulting from perlecan knockdown such as Schwartz-Jampel syndrome (SJS). Read More

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http://dx.doi.org/10.1074/mcp.RA120.001998DOI 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

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

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

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

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

Trabecular Bone Deficit and Enhanced Anabolic Response to Re-Ambulation after Disuse in Perlecan-Deficient Skeleton.

Biomolecules 2020 Jan 29;10(2). Epub 2020 Jan 29.

Center for Biomechanical Engineering Research, Department of Mechanical Engineering, University of Delaware, Newark, DE 19716, USA.

Perlecan/Hspg2, a large monomeric heparan sulfate proteoglycan, is found in the basement membrane and extracellular matrix, where it acts as a matrix scaffold, growth factor depot, and tissue barrier. Perlecan deficiency leads to skeletal dysplasia in Schwartz-Jampel Syndrome (SJS) and is a risk factor for osteoporosis. In the SJS-mimicking murine model (Hypo), inferior cortical bone quality and impaired mechanotransduction in osteocytes were reported. Read More

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http://dx.doi.org/10.3390/biom10020198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072656PMC
January 2020

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

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

[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

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

[SMARCAL1, roles and mechanisms in genome stability maintenance].

Yi Chuan 2019 Dec;41(12):1084-1098

Department of Pharmacology, Medical College of Hebei University, Baoding 071000, China.

SMARCAL1 is an ATP-driven DNA annealing helicase that is similar in structure to the chromatin regulators in the subfamily A group of the SWI/SNF-related matrix-associated actin-dependent chromatin regulators. SMARCAL1 catalyzes the formation of dsDNA by annealing the single-stranded binding protein RPA coated ssDNA with its complementary strand both and . In humans, different mutations of gene are found to be closely related to different symptoms shown in individuals with Schimke immuno-osseous dysplasia (SIOD). Read More

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http://dx.doi.org/10.16288/j.yczz.19-158DOI Listing
December 2019

Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia.

BMC Med Genet 2019 12 19;20(1):200. Epub 2019 Dec 19.

Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yi-Shan Rd., Shanghai, 200233, People's Republic of China.

Background: Schmid-type metaphyseal chondrodysplasia (MCDS) is an autosomal dominant disorder caused by COL10A1 mutations, which is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. However, descriptions of the expressivity of MCDS are rare.

Methods: Two probands and available family members affected with MCDS were subjected to clinical and radiological examination. Read More

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http://dx.doi.org/10.1186/s12881-019-0937-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6923838PMC
December 2019

McCune Albright syndrome is a genetic predisposition to intraductal papillary and mucinous neoplasms of the pancreas associated pancreatic cancer in relation with GNAS somatic mutation - a case report.

Medicine (Baltimore) 2019 Dec;98(50):e18102

Faculté de Médecine Paris Descartes, Université Paris Descartes, Sorbonne Paris Cité.

Rationale: Intraductal papillary and mucinous neoplasms of the pancreas (IPMN) are preneoplastic lesions diagnosed with an increasing incidence. Recently, several groups have described, in up to 70% of IPMN, activating mutations of the G-protein alpha stimulatory sub-unit (Gsα subunit) gene (GNAS). GNAS-activating somatic, post-zygotic, mutations are also associated with McCune-Albright syndrome (MCAS) characterized by fibrous dysplasia, precocious puberty, and café-au-lait spots. Read More

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http://dx.doi.org/10.1097/MD.0000000000018102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6922479PMC
December 2019

Oral and craniofacial manifestations of Ellis-Van Creveld syndrome: a systematic review.

Eur J Paediatr Dent 2019 Dec;20(4):306-310

Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy.

Aim: A systematic literature review on oral and craniofacial manifestations of Ellis-Van Creveld syndrome was performed.

Methods: From 2 databases were selected 74 articles using as key words "Ellis-Van Creveld" AND "Oral" OR "Craniofacial" OR "Dental" OR "Malocclusion". Prisma protocol was used to create an eligible list for the screening. Read More

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http://dx.doi.org/10.23804/ejpd.2019.20.04.09DOI Listing
December 2019

Pycnodysostosis in an Adult: A Case Report and Review of the Literature.

Ear Nose Throat J 2019 Dec 31;98(10):627-628. Epub 2019 Jan 31.

Department of Radiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1177/0145561319825738DOI Listing
December 2019

Molecular findings in maxillofacial bone tumours and its diagnostic value.

Virchows Arch 2020 Jan 14;476(1):159-174. Epub 2019 Dec 14.

Bone Tumour Reference Centre, Institute of Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.

According to the WHO, mesenchymal tumours of the maxillofacial bones are subdivided in benign and malignant maxillofacial bone and cartilage tumours, fibro-osseous and osteochondromatous lesions as well as giant cell lesions and bone cysts. The histology always needs to be evaluated considering also the clinical and radiological context which remains an important cornerstone in the classification of these lesions. Nevertheless, the diagnosis of maxillofacial bone tumours is often challenging for radiologists as well as pathologists, while an accurate diagnosis is essential for adequate clinical decision-making. Read More

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http://dx.doi.org/10.1007/s00428-019-02726-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6968989PMC
January 2020

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.

Am J Med Genet C Semin Med Genet 2019 12;181(4):658-681

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of ATP-sensitive potassium (K ) channels, respectively. Multiple case reports of affected individuals have described the various clinical features of CS, but systematic studies are lacking. To define the effects of genetic variants on CS phenotypes and clinical outcomes, we have developed a standardized REDCap-based registry for CS. Read More

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http://dx.doi.org/10.1002/ajmg.c.31753DOI Listing
December 2019

[Transsphenoid extirpation of pituitary adenomas in patients with McCune-Albright syndrome (two cases from practice and literature review)].

Zh Vopr Neirokhir Im N N Burdenko 2019 ;83(5):58-66

Burdenko Neurosurgical Center, Moscow, Russia.

Introduction: McCune-Albright Syndrome is a rare genetic disease characterized by the formation of fibrous osteodysplasia foci of various localization, including the bones of skull base. Having a gross lesion of the main bone body and the simultaneous formation of the pituitary adenoma, its transnasal removal becomes very difficult.

Material And Methods: Two clinical observations are presented where at patients with the classic manifestation of McCune-Albright syndrome we were able to successfully remove somatotropinomas with endoextrasellar growth. Read More

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http://dx.doi.org/10.17116/neiro20198305158DOI Listing
January 2020

Cantú syndrome as a rare cause of pericardial effusion in a young woman.

Br J Hosp Med (Lond) 2019 Dec;80(12):732-733

Consultant Cardiologist, Department of Cardiology, University Hospital Wales, Cardiff.

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http://dx.doi.org/10.12968/hmed.2019.80.12.732DOI Listing
December 2019

Phenotypic Properties of Collagen in Dentinogenesis Imperfecta Associated with Osteogenesis Imperfecta.

Int J Nanomedicine 2019 2;14:9423-9435. Epub 2019 Dec 2.

Faculty of Dentistry, University of Toronto, Toronto, Canada.

Introduction: Dentinogenesis imperfecta type 1 (OIDI) is considered a relatively rare genetic disorder (1:5000 to 1:45,000) associated with osteogenesis imperfecta. OIDI impacts the formation of collagen fibrils in dentin, leading to morphological and structural changes that affect the strength and appearance of teeth. However, there is still a lack of understanding regarding the nanoscale characterization of the disease, in terms of collagen ultrastructure and mechanical properties. Read More

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http://dx.doi.org/10.2147/IJN.S217420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6897053PMC
February 2020

Evaluation of Fracture and Osteotomy Union in the Setting of Osteogenesis Imperfecta: Reliability of the Modified Radiographic Union Score for Tibial Fractures (RUST).

J Pediatr Orthop 2020 Jan;40(1):48-52

Department of Orthopaedics.

Background: Evaluation of the union of osteotomies and fractures in patients with osteogenesis imperfecta (OI) is a critical component of patient care. Studies of the OI patient population have so far used varied criteria to evaluate bony union. The radiographic union score for tibial fractures (RUST), which was subsequently revised to the modified RUST, is an objective standardized method of evaluating fracture healing. Read More

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http://dx.doi.org/10.1097/BPO.0000000000001068DOI Listing
January 2020

[Prenatal diagnosis for two families affected with cleidocranial dysplasia due to novel RUNX2 variants].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Dec;36(12):1179-1182

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

Objective: To analyze variants of RUNX2 gene in two pedigrees affected with cleidocranial dysplasia and provide prenatal diagnosis for them.

Methods: For the two probands, the coding sequences of the RUNX2 gene were analyzed with PCR and bidirectional Sanger sequencing. To verify the results, peripheral blood samples were collected from their parents and 100 healthy controls. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.12.007DOI Listing
December 2019

Symptomatic Mandibular Fibrous Dysplasia With Concurrent Triple X- and Premutation Stage Fragile-X-Syndrome: Case Report With Short Literature Survey.

Anticancer Res 2019 Dec;39(12):6769-6780

Institute of Pathology, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.

Background: Certain constitutive chromosomal abnormalities of the human X chromosome are relatively common in conspicuous neuropsychiatric findings. Although tumors or tumor-like lesions are occasionally reported in diseases of the X chromosome, they are numerically negligible, for example, in aneuploidy such as the triple X syndrome (TXS).

Case Report: A 16-year-old female patient with a known TXS and premutation stage of fragile X syndrome was referred by her dentist for diagnosis and treatment of unilateral cheek swelling. Read More

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http://dx.doi.org/10.21873/anticanres.13892DOI Listing
December 2019

Fibrous Dysplasia of Paranasal Sinuses - An Atypical Presentation.

J Assoc Physicians India 2019 Dec;67(12):80-81

J.R.1, A.M.C.

Fibrous Dysplasia is a benign bone disease of unknown etiology. The involvement of the craniofacial skeleton is not uncommon but rarely involves the paranasal sinus. We report a case of fibrous dysplasia of paranasal sinuses, describing its unusual clinical presentation, radiological features, histopathological appearance and surgical management. Read More

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December 2019

SAPHO syndrome.

BMJ Case Rep 2019 Dec 2;12(12). Epub 2019 Dec 2.

Diagnostic and Generalist Medicine, Dokkyo Medical University, Shimotsuga-gun, Tochigi, Japan.

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http://dx.doi.org/10.1136/bcr-2019-233221DOI Listing
December 2019