3,301 results match your criteria Osteopetrosis


Osteomyelitis of the mandible secondary to malignant infantile osteopetrosis in an adult.

BMJ Case Rep 2019 Mar 20;12(3). Epub 2019 Mar 20.

Department of Oral and Maxillofacial Surgery, The Queen Elizabeth Hospital, Birmingham, UK.

Malignant infantile osteopetrosis (MIOP), an autosomal-recessive disorder, is extremely rare, presenting early in life with extreme sclerosis of the skeleton and reduced activity of osteoclasts. It was first described by Albers Schonberg in 1904. Disease manifestations include compensatory extramedullary haematopoiesis at sites such as the liver and spleen, hepatosplenomegaly, anaemia and thrombocytopaenia. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22445
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http://dx.doi.org/10.1136/bcr-2018-224452DOI Listing
March 2019
9 Reads

TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis.

Gene 2019 Mar 18. Epub 2019 Mar 18.

Akdeniz University Faculty of Medicine, Department of Medical Biology and Genetics, Antalya, Turkey. Electronic address:

Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease characterized by dense and fragile bone, caused by a defect in osteoclasts responsible for the bone destruction. In this study, we aimed to investigate the mutations in TCIRG1 and SNX10 that are responsible for 50% and 4% of the cases, respectively. All amplicons were sequenced by Sanger sequencing following PCR amplification. Read More

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http://dx.doi.org/10.1016/j.gene.2019.02.088DOI Listing

Osteopetrosis: presenting as maxillary osteomyelitis.

Trop Doct 2019 Mar 21:49475519833548. Epub 2019 Mar 21.

1 Assistant Professor, Department of Paediatrics, Shri Guru Ram Rai Institute of Medical and Health Sciences, Dehradun, Uttarakhand, India.

Osteopetrosis is a rare congenital disease presenting with recurrent fractures, hematopoietic insufficiency and hepatosplenomegaly. Though osteomyelitis is a known complication in osteopetrosis, osteopetrosis presenting as osteomyelitis is rare. Management consists of multidisciplinary approach for complications and bone marrow transplant for the infantile form of disease. Read More

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http://dx.doi.org/10.1177/0049475519833548DOI Listing
March 2019
2 Reads

Interferon gamma-1b does not increase markers of bone resorption in autosomal dominant osteopetrosis.

J Bone Miner Res 2019 Mar 19. Epub 2019 Mar 19.

Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana.

In autosomal dominant osteopetrosis type 2 (ADO2) CLCN7 mutations cause impaired osteoclast function. Severe consequences include skeletal fragility despite high bone mass, osteomyelitis, osteonecrosis, bone marrow failure, and severe cranial nerve impingement. There is no effective medical treatment for ADO2. Read More

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http://dx.doi.org/10.1002/jbmr.3715DOI Listing
March 2019
1 Read

Stem cell transplantation for osteopetrosis in patients beyond the age of 5 years.

Blood Adv 2019 Mar;3(6):862-868

Department of Pediatrics and Adolescent Medicine.

Osteopetrosis (OP) is a rare disease caused by defective osteoclast differentiation or function. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment available in the infantile "malignant" form of OP. Improved clinical and genetic diagnosis of OP has seen the emergence of a cohort of patients with less severe and heterogeneous clinical presentations. Read More

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http://dx.doi.org/10.1182/bloodadvances.2018025890DOI Listing
March 2019
2 Reads

Haploidentical HSCT with post-transplant CY for primary immunodeficiencies and inherited disorders in children.

Biol Blood Marrow Transplant 2019 Mar 12. Epub 2019 Mar 12.

Pediatric Hematology-Immunology and Rheumatology Unit, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Paris-Descartes University, Sorbonne Paris Cité, Paris, France.

Allogeneic hematopoietic stem cell transplantation (HSCT) is a potentially curative treatment for some inherited disorders, including selected primary immunodeficiencies (PIDs). In the absence of a well-matched donor, HSCT from a haploidentical family donor (HIFD) may be considered. In adult recipients, high-dose, post-transplant cyclophosphamide (PTCY) is increasingly used to mitigate the risks of graft failure and graft-versus-host disease (GVHD). Read More

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http://dx.doi.org/10.1016/j.bbmt.2019.03.009DOI Listing

ClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth.

Theranostics 2019 20;9(5):1387-1400. Epub 2019 Feb 20.

State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Diseases, Department of Oral Biology, Clinic of Oral Rare and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an, Shaanxi 710032, R.P. China.

Human encodes voltage-gated chloride channel 7 (ClC-7); mutations of lead to osteopetrosis which is characterized by increased bone mass and impaired osteoclast function. In our previous clinical practice, we noticed that osteopetrosis patients with mutations had some special deformities in craniofacial morphology and tooth dysplasia. It is unclear whether these phenotypes are the typical features of involved osteopetrosis and whether ClC-7 could regulate the development of craniofacial bone and tooth in some signaling pathways. Read More

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http://www.thno.org/v09p1387.htm
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http://dx.doi.org/10.7150/thno.29761DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6401512PMC
February 2019
5 Reads

One Disease, Many Genes: Implications for the Treatment of Osteopetroses.

Front Endocrinol (Lausanne) 2019 19;10:85. Epub 2019 Feb 19.

San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), San Raffaele Hospital, Milan, Italy.

Osteopetrosis is a condition characterized by increased bone mass due to defects in osteoclast function or formation. In the last decades, the molecular dissection of osteopetrosis has unveiled a plethora of molecular players responsible for different forms of the disease, some of which present also primary neurodegeneration that severely limits the therapy. Hematopoietic stem cell transplantation can cure the majority of them when performed in the first months of life, highlighting the relevance of an early molecular diagnosis. Read More

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http://dx.doi.org/10.3389/fendo.2019.00085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389615PMC
February 2019
3 Reads

Enhanced Activation of Rac1/Cdc42 and MITF Leads to Augmented Osteoclastogenesis in Autosomal Dominant Osteopetrosis Type II.

JBMR Plus 2019 Feb 16;3(2):e10070. Epub 2018 Jul 16.

Laboratory for Arthritis and Bone Biology Fatima Research Institute Daegu Fatima Hospital Daegu Republic of Korea.

The autosomal dominant osteopetrosis type II (ADOII) caused by the mutation of chloride channel 7 (ClC-7) gene is the most common form of adult-onset osteopetrosis. Despite dysfunctional bone resorption, an augmented osteoclast differentiation was reported recently in ADOII patients. DNA sequencing analysis of the ADOII patient's gene identified a known heterozygous mutation, c. Read More

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http://doi.wiley.com/10.1002/jbm4.10070
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http://dx.doi.org/10.1002/jbm4.10070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383696PMC
February 2019
12 Reads

ITGB (Integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosis.

Respir Med Case Rep 2019 16;26:270-272. Epub 2019 Feb 16.

Department of Pediatrics, Division of Pediatric Pulmonology, SUNY Downstate Medical Center, 450 Clarkson Ave. P.O. Box 49. Brooklyn, NY 11203, USA.

We report on a previously healthy infant who presented with pulmonary hemorrhage due to a rare hematologic disorder. He also had imaging and laboratory studies suggestive of osteopetrosis. A genetic testing uncovered a previously known integrin gene possibly involving both hematologic and bone tissues; however, the latter has been described only in mouse models. Read More

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http://dx.doi.org/10.1016/j.rmcr.2019.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383188PMC
February 2019
3 Reads

New Insights for RANKL as a Proinflammatory Modulator in Modeled Inflammatory Arthritis.

Front Immunol 2019 5;10:97. Epub 2019 Feb 5.

Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece.

Receptor activator of nuclear factor-κB ligand (RANKL), a member of the Tumor Necrosis Factor (TNF) superfamily, constitutes the master regulator of osteoclast formation and bone resorption, whereas its involvement in inflammatory diseases remains unclear. Here, we used the human TNF transgenic mouse model of erosive inflammatory arthritis to determine if the progression of inflammation is affected by either genetic inactivation or overexpression of RANKL in transgenic mouse models. TNF-mediated inflammatory arthritis was significantly attenuated in the absence of functional RANKL. Read More

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http://dx.doi.org/10.3389/fimmu.2019.00097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370657PMC
February 2019
5 Reads

Generation of a human induced pluripotent stem cell line (BIHi002-A) from a patient with CLCN7-related infantile malignant autosomal recessive osteopetrosis.

Stem Cell Res 2019 Mar 26;35:101367. Epub 2018 Dec 26.

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt - Universität zu Berlin, Berlin Institute of Health, Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany; Berlin Institute of Health (BIH), Berlin, Germany.

Autosomal recessive osteopetrosis (ARO) is a genetic bone disease that can be caused by mutations in the CLCN7 gene preventing osteoclast-mediated bone resorption. We generated a human induced pluripotent stem cell (hiPSC) line, BIHi002-A, from peripheral blood mononuclear cells of an ARO patient carrying the CLCN7 mutations c.875G>A and c. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101367DOI Listing
March 2019
2 Reads

A Case of Autosomal Dominant Osteopetrosis Type II with a Gene Mutation

J Clin Res Pediatr Endocrinol 2019 Feb 14. Epub 2019 Feb 14.

Department of Pediatrics1, Korea Cancer Center Hospital, Seoul 139-706, Republic of Korea

Osteopetrosis is a rare genetic disease characterized by increased bone density and bone breakage due to defective osteoclast function. Autosomal dominant osteopetrosis type II, Albers-Schonberg disease, is characterized by the sclerosis of bones, predominantly involving the spine, pelvis, and the base of the skull. Here, we report a typical case of osteopetrosis in a 17. Read More

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http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0229DOI Listing
February 2019
4 Reads

Ninjurin1 positively regulates osteoclast development by enhancing the survival of prefusion osteoclasts.

Exp Mol Med 2019 Jan 16;51(1). Epub 2019 Jan 16.

College of Pharmacy and Research Institute of Pharmaceutical Sciences, Seoul National University, Seoul, 08826, Korea.

Osteoclasts (OCs) are bone-resorbing cells that originate from hematopoietic stem cells and develop through the fusion of mononuclear myeloid precursors. Dysregulation of OC development causes bone disorders such as osteopetrosis, osteoporosis, and rheumatoid arthritis. Although the molecular mechanisms underlying osteoclastogenesis have been well established, the means by which OCs maintain their survival during OC development remain unknown. Read More

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http://dx.doi.org/10.1038/s12276-018-0201-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353902PMC
January 2019
2 Reads

Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study.

Bone 2019 Apr 16;121:243-254. Epub 2019 Jan 16.

Department of Clinical Research, Faculty of Health, University of Southern Denmark (SDU), Winsløwparken 19. 3, DK-5000 Odense C, Denmark; Department of Clinical Genetics, Odense University Hospital, J.B. Winsløws Vej 4, DK-5000 Odense C, Denmark. Electronic address:

Background: NF-κB essential modulator (NEMO), encoded by IKBKG, is necessary for activation of the ubiquitous transcription factor nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB). Animal studies suggest NEMO is required for NF-κB mediated bone homeostasis, but this has not been thoroughly studied in humans. IKBKG loss-of-function mutation causes incontinentia pigmenti (IP), a rare X-linked disease featuring linear hypopigmentation, alopecia, hypodontia, and immunodeficiency. Read More

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http://dx.doi.org/10.1016/j.bone.2019.01.014DOI Listing
April 2019
4 Reads

Role of Semaphorins in Immunopathologies and Rheumatic Diseases.

Authors:
Samuel Garcia

Int J Mol Sci 2019 Jan 16;20(2). Epub 2019 Jan 16.

Department of Rheumatology and Clinical Immunology and Laboratory of Translational Immunology, University Medical Center Utrecht, University of Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.

Rheumatic diseases are disorders characterized by joint inflammation, in which other organs are also affected. There are more than two hundred rheumatic diseases, the most studied so far are rheumatoid arthritis, osteoarthritis, spondyloarthritis, systemic lupus erythematosus, and systemic sclerosis. The semaphorin family is a large group of proteins initially described as axon guidance molecules involved in nervous system development. Read More

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http://www.mdpi.com/1422-0067/20/2/374
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http://dx.doi.org/10.3390/ijms20020374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6359241PMC
January 2019
20 Reads

Eomes partners with PU.1 and MITF to Regulate Transcription Factors Critical for osteoclast differentiation.

iScience 2019 Jan 27;11:238-245. Epub 2018 Dec 27.

Department of Cancer Biology and Genetics and Comprehensive Cancer Center, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA; Department of Biochemistry and Molecular Biology and Hollings Cancer Center, Medical University of South Carolina, Hollings Cancer Center, 86 Jonathan Lucas St, Charleston, SC 29425, USA. Electronic address:

Bone-resorbing osteoclasts (OCs) are derived from myeloid precursors (MPs). Several transcription factors are implicated in OC differentiation and function; however, their hierarchical architecture and interplay are not well known. Analysis for enriched motifs in PU. Read More

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http://dx.doi.org/10.1016/j.isci.2018.12.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327072PMC
January 2019
1 Read

Management of early-onset hip osteoarthritis in an adolescent patient with osteopetrosis tarda: a case report.

J Pediatr Orthop B 2018 Dec 21. Epub 2018 Dec 21.

Departmant of Orthopaedics and Traumatology, Tepecik Training and Research Hospital, İzmir, Turkey.

Osteopetrosis (OP) is a group of rare sclerosing bone dysplasia characterized by increased bone density. The benign autosomal dominant form is the most common type. It typically carries a full life expectancy, despite increased propensity for fractures and other musculoskeletal problems, particularly hip osteoarthritis. Read More

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http://dx.doi.org/10.1097/BPB.0000000000000583DOI Listing
December 2018
4 Reads

Crocin attenuates methylglyoxal-induced osteoclast dysfunction by regulating glyoxalase, oxidative stress, and mitochondrial function.

Food Chem Toxicol 2019 Feb 20;124:367-373. Epub 2018 Dec 20.

Department of Endocrinology & Metabolism, School of Medicine, Kyung Hee University, 1, Hoegi-dong, Dongdaemun-gu, Seoul, 02447, Republic of Korea. Electronic address:

Methylglyoxal (MG), a highly reactive dicarbonyl compound, is a major cell-permeant precursor of advanced glycation end-products, which are associated with several conditions, including diabetes and degenerative diseases. Crocin, a constituent of saffron, is involved in many pharmacological activities. Recent studies have reported that crocin exerts protective effects against bone diseases. Read More

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http://dx.doi.org/10.1016/j.fct.2018.12.031DOI Listing
February 2019
4 Reads

V-ATPases and osteoclasts: ambiguous future of V-ATPases inhibitors in osteoporosis.

Theranostics 2018 26;8(19):5379-5399. Epub 2018 Oct 26.

Key Laboratory of Biomedical Information Engineering of Ministry of Education, and Institute of Molecular Genetics, School of Life Science and Technology, Xi'an Jiaotong University, 28 West Xianning Road, Xi'an 710049, People's Republic of China.

Vacuolar ATPases (V-ATPases) play a critical role in regulating extracellular acidification of osteoclasts and bone resorption. The deficiencies of subunit a3 and d2 of V-ATPases result in increased bone density in humans and mice. One of the traditional drug design strategies in treating osteoporosis is the use of subunit a3 inhibitor. Read More

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http://dx.doi.org/10.7150/thno.28391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276090PMC
October 2018
2 Reads
7.827 Impact Factor

Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis.

BMJ Open Ophthalmol 2018 17;3(1):e000180. Epub 2018 Nov 17.

Department of Ophthalmology, Beijing Children's Hospital, National Center for Children's Health, National Key Discipline of Pediatrics, Capital Medical University, Beijing, China.

Objective: To evaluate the ophthalmic phenotypes associated with T-cell immune regulator 1 (TCIRG1) mutations in Chinese patients with infantile malignant osteopetrosis (IMO).

Methods And Analysis: 27 Chinese TCIRG1-related osteoporosis infants were enrolled using direct DNA sequencing of PCR-amplified exons. 12 cases had frameshift mutation (the frameshift mutation group, group F), and 15 cases had point mutation (the point mutation group, group P). Read More

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http://bmjophth.bmj.com/lookup/doi/10.1136/bmjophth-2018-000
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http://dx.doi.org/10.1136/bmjophth-2018-000180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6257380PMC
November 2018
10 Reads

Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1.

Bone 2019 Mar 8;120:495-503. Epub 2018 Dec 8.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany. Electronic address:

The osteopetroses and related sclerosing bone dysplasias can have a broad range of manifestations. Especially in the milder forms, sandwich vertebrae are an easily recognizable and reliable radiological hallmark. We report on four patients from three families presenting with sandwich vertebrae and platyspondyly. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S87563282183044
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http://dx.doi.org/10.1016/j.bone.2018.12.002DOI Listing
March 2019
18 Reads

Inheritance patterns, challenges, and outcomes of fracture management in osteopetrosis patients. CASE series and review of pertinent literature.

Ann Med Surg (Lond) 2018 Dec 8;36:191-198. Epub 2018 Nov 8.

Section of Orthopedics, Department of Surgery, Aga Khan University Hospital, Karachi, Pakistan.

Background: Osteopetrosis (OP) is a group of rare inheritable genetic disorders which show increased bone radiodensity on radiography. As no cure exists, careful symptomatic treatment is the mainstay in management due to brittle bone and frequent complications. We would like to present a case series of OP patients, their management, a review of literature about this rare disease and its genetic and inheritance patterns. Read More

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http://dx.doi.org/10.1016/j.amsu.2018.10.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6249351PMC
December 2018
3 Reads

Potential oligogenic disease of mental retardation, short stature, spastic paraparesis, and osteopetrosis.

Appl Clin Genet 2018 8;11:129-134. Epub 2018 Nov 8.

Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia,

The interaction of multiple genetic factors, as opposed to monogenic inheritance, has been suspected to play a role in many diseases. This interaction has been described as an oligogenic inheritance model, which may be a useful tool in explaining certain clinical observations. The purpose of this study was to search for novel genetic defects among members of a family with traits that include mental retardation, short stature, osteopetrosis, calcification of basal ganglia, and thinning of the corpus callosum. Read More

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https://www.dovepress.com/potential-oligogenic-disease-of-me
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http://dx.doi.org/10.2147/TACG.S172176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231439PMC
November 2018
15 Reads

The Use of Distraction Osteogenesis and a Taylor Spatial Frame in the Treatment of a Tibial Shaft Nonunion and Deformity in a Pediatric Patient with Osteopetrosis: A Case Report.

JBJS Case Connect 2018 Oct-Dec;8(4):e93-4

Department of Orthopaedics, Duke University Health System, Durham, North Carolina.

Case: Osteopetrosis is a heritable disease that causes brittle bones that are prone to fracture. Furthermore, these brittle bones have a poor healing response and a high risk of subsequent refracture. Many treatment strategies have been described for initial fracture stabilization; however, there is a paucity of literature describing treatment of refractures and subsequent deformity. Read More

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http://dx.doi.org/10.2106/JBJS.CC.17.00322DOI Listing
November 2018
4 Reads

Otosclerosis and Dysplasias of the Temporal Bone.

Neuroimaging Clin N Am 2019 Feb 31;29(1):29-47. Epub 2018 Oct 31.

Department of Radiology, Boston Medical Center, Boston University School of Medicine, 820 Harrison Avenue, FGH 3rd Floor, Boston, MA 02118, USA; Department of Otolaryngology-Head and Neck Surgery, Boston Medical Center, Boston University School of Medicine, 820 Harrison Avenue, FGH 3rd Floor, Boston, MA 02118, USA; Department of Radiation Oncology, Boston Medical Center, Boston University School of Medicine, 820 Harrison Avenue, FGH 3rd Floor, Boston, MA 02118, USA. Electronic address:

Many bone dysplasias, some common and others rare, may involve the temporal bone causing conductive, sensorineural, or mixed hearing loss, vestibular dysfunction, or skull base foraminal narrowing, potentially affecting quality of life. Some conditions may affect only the temporal bone, whereas others may be more generalized, involving different regions of the body. High-resolution computed tomography may detect subtle osseous changes that can help define the type of dysplasia, and MR imaging can help define the degree of activity of lesions and potential associated complications. Read More

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http://dx.doi.org/10.1016/j.nic.2018.09.004DOI Listing
February 2019
24 Reads

Sclerosing bone dysplasias.

Best Pract Res Clin Endocrinol Metab 2018 10 18;32(5):707-723. Epub 2018 Jun 18.

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address:

The group of sclerosing bone dysplasia's is a clinically and genetically heterogeneous group of rare bone disorders which, according to the latest Nosology and classification of genetic skeletal disorders (2015), can be subdivided in three subgroups; the neonatal osteosclerotic dysplasias, the osteopetroses and related disorders and the other sclerosing bone disorders. Here, we give an overview of the most important radiographic and clinical symptoms, the underlying genetic defect and potential treatment options of the different sclerosing dysplasias included in these subgroups. Read More

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http://dx.doi.org/10.1016/j.beem.2018.06.003DOI Listing
October 2018

CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis.

Mol Med Rep 2019 Jan 13;19(1):595-600. Epub 2018 Nov 13.

The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, Hunan 410007, P.R. China.

Osteopetrosis is a monogenic condition with various inheritance patterns, including autosomal dominant, autosomal recessive and X‑linked. Several disease‑causing genes have been identified and three distinguished types of osteopetrosis have been reported. In the present study, a family with osteopetrosis was investigated. Read More

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http://www.spandidos-publications.com/10.3892/mmr.2018.9648
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http://dx.doi.org/10.3892/mmr.2018.9648DOI Listing
January 2019
12 Reads

Diversity of copy number variation in the worldwide goat population.

Heredity (Edinb) 2018 Nov 6. Epub 2018 Nov 6.

Animal Genomics and Improvement Laboratory, BARC, Agricultural Research Service, USDA, Beltsville, MD, 20705, USA.

Goats (Capra hircus) are an important farm animal species. Copy number variation (CNV) represents a major source of genomic structural variation. We investigated the diversity of CNV distribution in goats using CaprineSNP50 genotyping data generated by the ADAPTmap Project. Read More

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http://www.nature.com/articles/s41437-018-0150-6
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http://dx.doi.org/10.1038/s41437-018-0150-6DOI Listing
November 2018
27 Reads

[Optic atrophy and osteopetrosis (report of an atypical case)].

J Fr Ophtalmol 2018 Nov 30;41(9):e441-e443. Epub 2018 Oct 30.

Service d'ophtalmologie, CHU Dr-Tidjani-Damerdji, 5, boulevard Mohammed V, Tlemcen, Algérie.

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http://dx.doi.org/10.1016/j.jfo.2018.05.005DOI Listing
November 2018
1 Read

Comparison of Optic Canal Diameter in Children With Malignant Infantile Osteopetrosis and Normal Children and the Effects of Hematopoietic Stem Cell Transplantation on the Optic Canal Diameter.

J Pediatr Ophthalmol Strabismus 2019 Jan 26;56(1):35-42. Epub 2018 Oct 26.

Purpose: To investigate the difference in the optic canal diameter between children with autosomal recessive malignant infantile osteopetrosis and normal children, and to assess the influence of hematopoietic stem cell transplantation on the optic canal diameter.

Methods: Twenty pediatric patients with malignant infantile osteopetrosis and 22 normal control children were included in this study. Eleven patients with malignant infantile osteopetrosis underwent hematopoietic stem cell transplantation. Read More

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http://dx.doi.org/10.3928/01913913-20180921-01DOI Listing
January 2019
2 Reads

Incidence and types of preceding and subsequent fractures in cats with patellar fracture and dental anomaly syndrome.

J Feline Med Surg 2018 Oct 22:1098612X18800837. Epub 2018 Oct 22.

2 Langford Veterinary Services, University of Bristol, UK.

Objectives: The aim of this study was to document the incidence of preceding and subsequent fractures to the patellar fractures in cats with patellar fractures and dental anomaly syndrome.

Methods: Records of cats with patellar fracture and dental anomaly syndrome were retrieved from the combined databases at the University of Bristol, UK, and Exclusively Cats Veterinary Hospital, USA. A request was made to complete a questionnaire to obtain long-term follow-up of these cats with respect to their current status and fractures to other bones; radiographs and histories were requested and were reviewed for treatment of ongoing fractures and outcome. Read More

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http://dx.doi.org/10.1177/1098612X18800837DOI Listing
October 2018
2 Reads

Maxillary osteomyelitis associated with osteopetrosis: Systematic review.

J Craniomaxillofac Surg 2018 Nov 24;46(11):1905-1910. Epub 2018 Sep 24.

Department of Diagnosis and Surgery, São Paulo State University, Dental School of Araraquara - UNESP, Brazil. Electronic address:

Osteopetrosis is a rare condition which presents increased bone density and deficient bone remodeling. The consequential complications include cranial nerve impairment due compression, bone fractures, and osteomyelitis. Maxillary osteomyelitis is uncommon even in osteopetrosis patients. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10105182183032
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http://dx.doi.org/10.1016/j.jcms.2018.09.004DOI Listing
November 2018
5 Reads

Fractures in patients with osteopetrosis, insights from a single institution.

Int Orthop 2018 Oct 4. Epub 2018 Oct 4.

Department of Orthopaedic Surgery, Tan Tock Seng Hospital, Novena, Singapore.

Purpose: Osteopetrosis is a hereditary skeletal disorder in which defective osteoclast function leads to abnormally hard and brittle bones. This study aims to describe the pattern of fractures occurring in this group of patients, possible complications, and strategies to avoid them.

Methods: This is a case series of six osteopetrotic patients with a total of 12 fractures managed in our institution over a period of nine years. Read More

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http://dx.doi.org/10.1007/s00264-018-4167-5DOI Listing
October 2018
8 Reads

Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review.

JBMR Plus 2018 Jan 3;2(1):1-11. Epub 2018 Jan 3.

Department of Medicine School of Clinical Sciences Monash University Clayton Australia.

Atypical femoral fractures (AFFs) are uncommon and have been associated particularly with long-term antiresorptive therapy, including bisphosphonates. Although the pathogenesis of AFFs is unknown, their identification in bisphosphonate-naïve individuals and in monogenetic bone disorders has led to the hypothesis that genetic factors predispose to AFF. Our aim was to review and summarize the evidence for genetic factors in individuals with AFF. Read More

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http://dx.doi.org/10.1002/jbm4.10024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6124156PMC
January 2018
16 Reads

Locking plate osteosynthesis for a femoral fracture and subsequent nonunion in a patient with osteopetrosis.

Int J Surg Case Rep 2018 17;51:395-399. Epub 2018 Sep 17.

Department of Orthopaedic Surgery, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan. Electronic address:

Introduction: Osteopetrosis is a skeletal disorder characterized by increased osteodensity and a remodeling defect. The fragility of dense sclerotic bones may lead to an increased incidence of fractures. Although internal fixation can be performed, technical challenges may be experienced because of the increased bone density. Read More

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http://dx.doi.org/10.1016/j.ijscr.2018.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6170211PMC
September 2018
2 Reads

Genetic Analysis of in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis.

Endocrinol Metab (Seoul) 2018 Sep;33(3):380-386

Department of Internal Medicine, Chungnam National University College of Medicine, Daejeon, Korea.

Background: Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely related to functional defect of osteoclasts caused by chloride voltage-gated channel 7 () gene mutations. In this study, we aimed to identify the pathogenic mutation in a Korean patient with ADO II using whole exome sequencing. Read More

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http://dx.doi.org/10.3803/EnM.2018.33.3.380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145957PMC
September 2018

Skull pathology in 10 cats with patellar fracture and dental anomaly syndrome.

J Feline Med Surg 2018 Sep 10:1098612X18797368. Epub 2018 Sep 10.

1 Langford Small Animal Hospital, University of Bristol, Bristol, UK.

Case series summary The aim of this case series is to describe the clinical and radiological features of mandibular and maxillary abnormalities in cats diagnosed with patellar fractures and dental anomalies, a condition that we have named 'patellar fracture and dental anomaly syndrome' (PADS), also known previously as 'knees and teeth syndrome'. Where available, clinical records, skull and/or intraoral dental radiographs, head CT images, microbiology and histopathology reports were collected, and follow-up was obtained. Ten cats with mandibular or maxillary abnormalities were identified. Read More

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http://journals.sagepub.com/doi/10.1177/1098612X18797368
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http://dx.doi.org/10.1177/1098612X18797368DOI Listing
September 2018
22 Reads

[Osteopetrosis, renal tubular acidosis, cerebral calcifications: a familial case].

An Pediatr (Barc) 2018 Sep 4. Epub 2018 Sep 4.

Servicio Radiodiagnóstico, Complejo Hospitalario Soria, Soria, España.

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http://dx.doi.org/10.1016/j.anpedi.2018.07.008DOI Listing
September 2018
4 Reads

Mesenchymal Stromal Cell-Seeded Biomimetic Scaffolds as a Factory of Soluble RANKL in Rankl-Deficient Osteopetrosis.

Stem Cells Transl Med 2019 Jan 5;8(1):22-34. Epub 2018 Sep 5.

CNR-IRGB, Milan Unit, Milan, Italy.

Biomimetic scaffolds are extremely versatile in terms of chemical composition and physical properties, which can be defined to accomplish specific applications. One property that can be added is the production/release of bioactive soluble factors, either directly from the biomaterial, or from cells embedded within the biomaterial. We reasoned that pursuing this strategy would be appropriate to setup a cell-based therapy for RANKL-deficient autosomal recessive osteopetrosis, a very rare skeletal genetic disease in which lack of the essential osteoclastogenic factor RANKL impedes osteoclast formation. Read More

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http://dx.doi.org/10.1002/sctm.18-0085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312453PMC
January 2019
3 Reads

Bilateral endoscopic optic nerve decompression in an infant with osteopetrosis.

J AAPOS 2018 Aug 29. Epub 2018 Aug 29.

Department of Ophthalmology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.

Osteopetrosis is a rare disorder of bone remodeling characterized by defective resorption leading to excessive skeletal mass including optic canal. Compression of the optic nerve from the narrowed optic canal is the most common cause of vision loss in children with osteopetrosis. We report the case of a 6-month old girl with osteopetrosis who underwent bilateral optic canal decompression via endoscopic transcaruncular approach for progressive deterioration of visual function secondary to compressive optic neuropathy from narrowed optic canals. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10918531183050
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http://dx.doi.org/10.1016/j.jaapos.2018.05.012DOI Listing
August 2018
16 Reads

LRRK1 regulation of actin assembly in osteoclasts involves serine 5 phosphorylation of L-plastin.

J Cell Biochem 2018 Dec 22;119(12):10351-10357. Epub 2018 Aug 22.

Department of Medicine, Loma Linda University, Loma Linda, California.

Mice with disruption of Lrrk1 and patients with nonfunctional mutant Lrrk1 exhibit severe osteopetrosis phenotypes because of osteoclast cytoskeletal dysfunction. To understand how Lrrk1 regulates osteoclast function by modulating cytoskeleton rearrangement, we examined the proteins that are differentially phosphorylated in wild-type mice and Lrrk1-deficient osteoclasts by metal affinity purification coupled liquid chromatography/mass spectrometry (LC/MS) analyses. One of the candidates that we identified by LC/MS is L-plastin, an actin bundling protein. Read More

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http://dx.doi.org/10.1002/jcb.27377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218268PMC
December 2018
6 Reads

LncRNA AK077216 promotes RANKL-induced osteoclastogenesis and bone resorption via NFATc1 by inhibition of NIP45.

J Cell Physiol 2019 Feb 21;234(2):1606-1617. Epub 2018 Aug 21.

Department of Biomedical Materials Science, School of Biomedical Engineering, Third Military Medical University (Army Medical University), Chongqing, China.

Osteoclasts derived from the monocyte/macrophage hematopoietic lineage regulate bone resorption, a process balanced by bone formation in the continual renewal of the skeletal system. As dysfunctions of these cells result in bone metabolic diseases such as osteoporosis and osteopetrosis, the exploration of the mechanisms regulating their differentiation is a priority. A potential mechanism may involve long noncoding RNAs (lncRNAs), which are known to regulate various cell biology activities, including proliferation, differentiation, and apoptosis. Read More

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http://dx.doi.org/10.1002/jcp.27031DOI Listing
February 2019
5 Reads

Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea.

Front Pediatr 2018 31;6:213. Epub 2018 Jul 31.

Department of Pediatrics, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

The term osteopetrosis describes a group of rare hereditary diseases of the skeleton, characterized by an increase in bone density, caused by a defect in the development or function of osteoclasts. It comprises a clinically and genetically heterogeneous conditions ranging from infantile onset life-threatening forms to mildest adult onset forms. "Malignant" osteopetrosis is characterized by bone fragility, short stature, compressive neuropathies, hypocalcaemia, pancytopaenia. Read More

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http://dx.doi.org/10.3389/fped.2018.00213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079206PMC
July 2018
17 Reads

Autosomal recessive osteopetrosis type I: description of pathogenic variant of TCIRG1 gene.

Bol Med Hosp Infant Mex 2018 ;75(4):255-259

Hospital de Especialidades 14, Instituto Mexicano del Seguro Social, Veracruz, Veracruz, Mexico.

Background: Autosomal malignant osteopetrosis is a rare condition arising from dysfunction of bone-resorbing osteoclasts, in which diagnosis requires a high suspicion index. Treatment of choice is allogeneic stem cell transplantation. Best outcomes occur if the procedure is carried out before damage to cranial nerves ensues; nonetheless, patients improve their clinical condition. Read More

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http://dx.doi.org/10.24875/BMHIM.M18000028DOI Listing
January 2018
1 Read

Temporal Bone Osteomyelitis in a Child Closely Resembles Lateral Sinus Thrombosis: A Case Report.

Iran J Otorhinolaryngol 2018 Jul;30(99):241-245

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

Introduction: Temporal bone osteomyelitis is more commonly seen in immunocompromised patients and is very rare in non-immunocompromised individuals. Mucormycosis is a fulminating fungal infection caused by Mucor which is a saprophytic fungus commonly seen in diabetic patients. Here we report a case of temporal bone osteomyelitis in a child with a traumatic history which was causing clinical features of lateral sinus thrombosis. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6064764PMC
July 2018
5 Reads

Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.

Bone 2018 Nov 2;116:321-332. Epub 2018 Aug 2.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO 63110, USA. Electronic address:

Sclerosteosis (SOST) refers to two extremely rare yet similar skeletal dysplasias featuring a diffusely radiodense skeleton together with congenital syndactyly. SOST1 is transmitted as an autosomal recessive (AR) trait and to date caused by ten homozygous loss-of-function mutations within the gene SOST that encodes the inhibitor of Wnt-mediated bone formation, sclerostin. SOST2 is transmitted as an autosomal dominant (AD) or AR trait and to date caused by one heterozygous or two homozygous loss-of-function mutation(s), respectively, within the gene LRP4 that encodes the sclerostin interaction protein, low-density lipoprotein receptor-related protein 4 (LRP4). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S87563282183029
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http://dx.doi.org/10.1016/j.bone.2018.07.022DOI Listing
November 2018
10 Reads

Ocular Manifestations of Albers-Schoenberg Disease (Osteopetrosis).

J Pediatr Ophthalmol Strabismus 2018 Jul;55(4):276

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http://dx.doi.org/10.3928/01913913-20180409-02DOI Listing
July 2018
2 Reads
0.731 Impact Factor

Osteopetrosis-Anesthetic Considerations for Total Knee Arthroplasty: A Case Report.

A A Pract 2019 Jan;12(1):5-8

Department of Orthopedic Surgery, North Florida/Southern Georgia Veterans Health System and the University of Florida College of Medicine, Gainesville, Florida.

Autosomal dominant or benign osteopetrosis is a rare genetic disorder of osteoclasts that results in dense but brittle bone structures. Patients with osteopetrosis may be scheduled for total knee arthroplasty to treat painful and functionally limiting osteoarthrosis. A search of the published literature produced no citation concerning anesthesia for patients with autosomal dominant osteopetrosis undergoing total knee arthroplasty. Read More

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http://dx.doi.org/10.1213/XAA.0000000000000828DOI Listing
January 2019
19 Reads

An Exceptional Neurosurgical Presentation of a Patient with Osteopetrosis.

World Neurosurg 2018 Nov 20;119:25-29. Epub 2018 Jun 20.

Cerrahpasa Medical Faculty, Department of Neurosurgery, Istanbul University, Istanbul, Turkey. Electronic address:

Background: Osteopetrosis (OP) is a varied clinical condition caused by malfunction or insufficient development of osteoclasts, or both. Neurologic findings can occur because of osteopetrotic conditions restricting neural foramina through which the spinal cord, cranial nerves, or major vascular structures traverse the skull. Renal tubular acidosis (RTA) is a well-documented condition with OP. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.06.081DOI Listing
November 2018
12 Reads