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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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

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

Servicio Radiodiagnóstico, Complejo Hospitalario Soria, Soria, España.

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

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

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

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

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

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

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

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

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

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

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