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FASEB J 2020 Jul 6. Epub 2020 Jul 6.

Department of Orthopaedic Surgery, Washington University School of Medicine, St. Louis, MO, USA.

Excessive bone resorption over bone formation is the root cause for bone loss leading to osteoporotic fractures. Development of new antiresorptive therapies calls for a holistic understanding of osteoclast differentiation and function. Although much has been learned about the molecular regulation of osteoclast biology, little is known about the metabolic requirement and bioenergetics during osteoclastogenesis. Read More

JBJS Case Connect 2020 Jul-Sep;10(3):e1900474

Department of Orthopaedic Surgery, University Orthopaedic Hand and Microsurgery Reconstruction, National University Hospital Systems, Singapore.

Case: Fractures in patients with osteopetrosis pose unique technical challenges to the orthopaedic surgeon. We present a case of a 43-year-old man with osteopetrosis who underwent tension band wiring of a patella fracture. The intraoperative appearance of osteopetrotic bone, technical difficulties in passing wires through dense bone, and how this was overcome are presented. Read More

Bone 2020 Jun 28;138:115507. Epub 2020 Jun 28.

Department of Orthopedics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Objectives: To identify epigenetic and transcriptional factors controlling osteoclastogenesis (OCG), that have been shown to play a role in the pathogenesis of skeletal diseases.

Methods: A systematic review was conducted in accordance with the PRISMA guidelines. The PubMed and EMBASE databases were searched up to 30th April 2020; references of included articles and pertinent review articles were also screened to identify eligible studies. Read More

Bone 2020 Jun 11;138:115476. Epub 2020 Jun 11.

Univ. Lille, CHU Lille, MABLab ULR 4490, Department of Rheumatology, 59000 Lille, France. Electronic address:

Introduction: Reports of elevated bone mass (EBM) on routine DXA scanning are not infrequent. However, epidemiological studies of EBM are few in number and definition thresholds variable. The purpose of this study was to assess the prevalence and causes of EBM in the general population referred to a single university hospital - catering for a population of 4 million inhabitants - for DXA scanning. Read More

BMJ Case Rep 2020 Jun 7;13(6). Epub 2020 Jun 7.

Oral & Maxillofacial Surgery, Krishna Institute of Medical Sciences Deemed University, Karad, Maharashtra, India

Osteopetrosis (OP), also known as marble bone disease is an extremely rare inherited skeletal disorder, characterised by abnormal functioning of the osteoclasts that results in incremental bone deposition with lack of normal bone remodelling. This leads to the formation of hard and brittle bone can readily fracture. The compromised quality of marrow tissue with poor vascularity reduces bone healing and increases the risk of infections. Read More

J Endocr Soc 2020 Jun 28;4(6):bvaa044. Epub 2020 Apr 28.

Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama.

Osteopetrosis is a rare group of bone disorders characterized by defective osteoclast bone resorption causing high bone mineral density. A high bone mineral density in combination with defective skeletal mineralization results in a phenotype of osteopetrorickets. We present a rare presentation of infantile osteopetrorickets in an 8-week-old female who presented with failure to thrive, hypophosphatemia, anemia, and thrombocytopenia. Read More

Case Rep Orthop 2020 4;2020:5630202. Epub 2020 May 4.

Instituto de Ortopedia y Traumatología "Carlos E. Ottolenghi", Hospital Italiano de Buenos Aires, Argentina.

Osteopetrosis is a disease of osteoclasts that results in failure of bone remodeling. Despite the sclerotic radiographic appearance of the thickened cortices and its material hardness, osteopetrotic bone is weak and prone to fracture by minor trauma. We report a case of a subtrochanteric fracture in an osteopetrotic patient, with further pseudoarthrosis and infection. Read More

Clin Spine Surg 2020 May 22. Epub 2020 May 22.

Department of Orthopedics and Trauma-Surgery, Krankenhaus Nord-Klinik Floridsdorf, Vienna.

Purpose: Ankylosing spondylitis and hereditary hypophosphatemia with long-term high dose supplementation of phosphorous and calcitriol can both lead to severe structural abnormalities of the vertebrae. Impairment of spinal mobility and spinal deformity may ultimately necessitate surgical treatment. A severe fixed hyperkyphosis in a patient with ankylosing spondylitis is a surgically demanding condition, therefore, the indication for surgical treatment should be thoroughly considered and chosen individually. Read More

Biochim Biophys Acta Biomembr 2020 May 16:183341. Epub 2020 May 16.

Cell, Molecular and Developmental Biology, Tufts University Graduate School of Biomedical Sciences, United States of America; Dept. of Developmental, Molecular and Chemical Biology, Tufts University School of Medicine, Boston, MA 02111, United States of America. Electronic address:

The vacuolar H-ATPases (V-ATPases) are essential, ATP-dependent proton pumps present in a variety of eukaryotic cellular membranes. Intracellularly, V-ATPase-dependent acidification functions in such processes as membrane traffic, protein degradation, autophagy and the coupled transport of small molecules. V-ATPases at the plasma membrane of certain specialized cells function in such processes as bone resorption, sperm maturation and urinary acidification. Read More

Mod Pathol 2020 May 15. Epub 2020 May 15.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.

Epithelial marker expression and/or epithelial differentiation, as well as "anomalous" expression of keratins, are features of some soft tissue tumors. Recently, we have encountered an unusual mesenchymal tumor composed of bland, distinctly eosinophilic, keratin-positive epithelial cells, which were almost entirely obscured by xanthogranulomatous inflammation. Six cases were identified (5 F, 1 M; 16-62 years (median 21 years)) arising in soft tissue (n = 4) and bone (n = 2) and ranging in size from 2 to 7 cm. Read More

Stem Cell Res Ther 2020 May 15;11(1):179. Epub 2020 May 15.

Department of Molecular Medicine and Gene Therapy, Lund Strategic Center for Stem Cell Biology, Lund University, BMC A12, 221 84, Lund, Sweden.

Background: Infantile malignant osteopetrosis (IMO) is an autosomal recessive disorder characterized by non-functional osteoclasts and a fatal outcome early in childhood. About 50% of patients have mutations in the TCIRG1 gene.

Methods: IMO iPSCs were generated from a patient carrying a homozygous c. Read More

World Neurosurg 2020 Apr 26;139:370-372. Epub 2020 Apr 26.

Department of Neurosurgery, King Edward Memorial Hospital and Seth Gordhandas Sunderdas Medical College, Parel, Mumbai, India; Department of Neurosurgery, Lilavati Hospital and Research Centre, Bandra East, Mumbai, India. Electronic address:

Background: We report a rare case of Hangman's fracture in a male child with osteopetrosis.

Case Description: A 7-year-old boy was earlier diagnosed to have 'osteopetrosis'. He presented with neck pain, restriction of neck movements and quadriparesis following a fall while playing at home. Read More

J Bone Miner Res 2020 Apr 24. Epub 2020 Apr 24.

Pediatric Orthopedics Unit, Assuta Ashdod Medical Center, Ashdod, 7747629, Israel.

Osteopetrosis is a rare skeletal dysplasia resulting from an osteoclast defect leading to increased bone mass and density. Hematopoietic stem cell transplantation can rescue the disease phenotype and prevent complications. However, little is known about the skeletal changes hematopoietic stem cell transplantation induces in patients with this disease. Read More

Avian Pathol 2020 May 18:1-8. Epub 2020 May 18.

Laboratory of Veterinary Pathology, Co-department of Veterinary Medicine, Iwate University, Morioka, Japan.

The prototype fowl glioma-inducing virus (FGVp) causes fowl glioma and cerebellar hypoplasia in chickens. In this study, we investigated whether a strain of avian leukosis virus (ALV), associated with avian osteopetrosis and mesenchymal neoplasms, is able to induce fowl glioma. We encountered avian osteopetrosis and mesenchymal neoplasms, including myxosarcoma and rhabdomyosarcoma, in Japanese native chickens used for both egg-laying and meat production. Read More

Bone 2020 Jul 8;136:115360. Epub 2020 Apr 8.

Department of Molecular Genetics, The Weizmann Institute of Science, Rehovot 76100, Israel. Electronic address:

The R51Q mutation in sorting nexin 10 (SNX10) was shown to cause a lethal genetic disease in humans, namely autosomal recessive osteopetrosis (ARO). We describe here the first R51Q SNX10 knock-in mouse model and show that mice homozygous for this mutation exhibit massive, early-onset, and widespread osteopetrosis. The mutant mice exhibit multiple additional characteristics of the corresponding human disease, including stunted growth, failure to thrive, missing or impacted teeth, occasional osteomyelitis, and a significantly-reduced lifespan. Read More

Exp Ther Med 2020 Apr 10;19(4):2702-2706. Epub 2020 Feb 10.

Department of Orthopedics, Affiliated Hospital of Jiangsu University, Zhenjiang, Jiangsu 212000, P.R. China.

Osteopetrosis is a rare congenital bone disorder, characterized by systemic osteosclerosis due to a deficiency of or functional defect in osteoclasts. Autosomal dominant osteopetrosis (ADOP) is the most common form with a late onset, a stable condition, relatively few symptoms and a good prognosis. Few studies to date have reported successful total hip arthroplasty (THA) in patients with ADOP and its operative difficulties. Read More

Pharmacol Rep 2020 Mar 28. Epub 2020 Mar 28.

Laboratorio de Farmacología, Unidad Académica Multidisciplinaria Reynosa-Aztlán, Universidad Autónoma de Tamaulipas, Calle 16 y Lago de Chapala, Col. Aztlán, 88740, Reynosa, TAMPS, México.

Background: Mice lacking either colony-stimulating factor-1 (CSF-1) or its receptor, CSF-1R, display osteopetrosis. Accordingly, genetic deletion or pharmacological blockade of CSF-1 prevents the bone loss associated with estrogen deficiency. However, the role of CSF-1R in osteoporosis models of type-1 diabetes (T1D) and ovariectomy (OVX) has not been examined. Read More

J Virol 2020 May 18;94(11). Epub 2020 May 18.

State Key Laboratory of Virology, College of Life Sciences, Wuhan University, Wuhan, China

Hepatitis B virus (HBV) chronically infects approximately 350 million people worldwide, and 600,000 deaths are caused by HBV-related hepatic failure, liver cirrhosis, and hepatocellular carcinoma annually. It is important to reveal the mechanism underlying the regulation of HBV replication. This study demonstrated that osteopetrosis-associated transmembrane protein 1 (Ostm1) plays an inhibitory role in HBV replication. Read More

Sci Adv 2020 03 6;6(10):eaax0938. Epub 2020 Mar 6.

Department of Biosystems Science, Institute for Frontier Life and Medical Sciences, Kyoto University, Kyoto, Japan.

Bone structure and function are maintained by well-regulated bone metabolism and remodeling. Although the underlying molecular and cellular mechanisms are now being understood, physiological and pathological states of bone are still difficult to predict due to the complexity of intercellular signaling. We have now developed a novel in silico experimental platform, V-Bone, to integratively explore bone remodeling by linking complex microscopic molecular/cellular interactions to macroscopic tissue/organ adaptations. Read More

Bone 2020 Jun 10;135:115316. Epub 2020 Mar 10.

Laboratory of Molecular and Cellular Biochemistry, Faculty of Dental Science, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan; Oral Health/Brain Health/Total Health Research Center, Faculty of Dental Science, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan. Electronic address:

Musculoskeletal diseases and disorders, including osteoporosis and rheumatoid arthritis are diseases that threaten a healthy life expectancy, and in order to extend the healthy life expectancy of elderly people, it is important to prevent bone and joint diseases and disorders. We previously reported that alymphoplasia (aly/aly) mice, which have a loss-of-function mutation in the Nik gene involved in the processing of p100 to p52 in the alternative NF-κB pathway, show mild osteopetrosis with a decrease in the osteoclast number, suggesting that the alternative NF-κB pathway is a potential drug target for ameliorating bone diseases. Recently, the novel NF-κB-inducing kinase (NIK)-specific inhibitor compound 33 (Cpd33) was developed, and we examined its effect on osteoclastic bone resorption in vitro and in vivo. Read More

Endocr Pract 2020 Mar 11. Epub 2020 Mar 11.

From: Department of Orthopaedic Surgery (SL, XZ, YW, YL), Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.

Clin Genet 2020 May 22;97(5):712-722. Epub 2020 Mar 22.

Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, China.

XLαs, the extra-large isoform of alpha-subunit of the stimulatory guanine nucleotide-binding protein (Gsα), is paternally expressed. The significance of XLαs in humans remains largely unknown. Here, we report a patient who presented with increased bone mass, hypophosphatemia, and elevated parathyroid hormone (PTH) levels. Read More

J Bone Miner Res 2020 Mar 2. Epub 2020 Mar 2.

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.

Osteosclerotic metaphyseal dysplasia (OSMD) is a rare autosomal recessive sclerosing skeletal dysplasia. We report on a 34-year-old patient with sandwich vertebrae, platyspondyly, osteosclerosis of the tubular bones, pathologic fractures, and anemia. In the third decade, he developed osteonecrosis of the jaws, which was progressive in spite of repeated surgical treatment over a period of 11 years. Read More

J Pediatr Hematol Oncol 2020 Feb 24. Epub 2020 Feb 24.

The Rina Zaizov Division of Pediatric Hematology-Oncology, Schneider Children's Medical Center, Petah Tikva, Israel.

Wiskott-Aldrich syndrome (WAS) and osteopetrosis are 2 different, rare hereditary diseases. Here we report clinical and molecular genetics investigations on an infant patient with persistent thrombocytopenia and prolonged fever. He was clinical diagnosed as osteopetrosis according to clinical presentation, radiologic skeletal features, and bone biopsy results. Read More

Clin Immunol 2020 Apr 21;213:108365. Epub 2020 Feb 21.

Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Leukocyte adhesion deficiency type III (LAD-III) is caused by mutations in FERMT3 that encodes Kindlin-3 which regulates integrins activation. LAD-III predisposes to infections and bleeding. Osteopetrosis was reported in some cases. Read More

Inflamm Regen 2020 7;40. Epub 2020 Feb 7.

1Department of Cell Signaling, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Yushima 1-5-45, Bunkyo-ku, Tokyo, 113-8549 Japan.

Receptor activator of NF-κB (RANK) ligand (RANKL) induces the differentiation of monocyte/macrophage-lineage cells into the bone-resorbing cells called osteoclasts. Because abnormalities in RANKL, its signaling receptor RANK, or decoy receptor osteoprotegerin (OPG) lead to bone diseases such as osteopetrosis, the RANKL/RANK/OPG system is essential for bone resorption. RANKL was first discovered as a T cell-derived activator of dendritic cells (DCs) and has many functions in the immune system, including organogenesis, cellular development. Read More

Exp Cell Res 2020 Apr 8;389(2):111901. Epub 2020 Feb 8.

Division of Biochemistry, School of Pharmacy, Iwate Medical University, Yahaba, Iwate, 028-3694, Japan. Electronic address:

The a3 isoform of vacuolar-type proton-pumping ATPase (V-ATPase) is essential for bone resorption by osteoclasts. Although more than 90 mutations of the human a3 gene have been identified in patients with infantile malignant osteopetrosis, it is unclear whether they lead to osteoclast dysfunction. We have established an in vitro assay to induce osteoclasts from spleen macrophages derived from a3-knockout mice. Read More

Cureus 2020 Jan 21;12(1):e6725. Epub 2020 Jan 21.

Pediatrics, Imam Abdulrahman Bin Faisal University, Dammam, SAU.

Osteopetrosis is a rare genetic disease of bone resorption. It includes a variety of hereditary skeletal disorders that have the main radiographic feature of increased bone density and thickness due to differentiation or functional defects in osteoclast. The clinical presentation varies widely based on the type of osteopetrosis and ranges in severity from asymptomatic to a fatal course. Read More

Haematologica 2020 Jan 16. Epub 2020 Jan 16.

San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute;

Allogeneic hematopoietic stem cell transplantation is the treatment of choice for autosomal recessive osteopetrosis caused by defects in the TCIRG1 gene. Despite recent progress in conditioning, a relevant number of patients are not eligible for allogeneic stem cell transplantation because of the severity of the disease and significant transplant-related morbidity. We exploited peripheral CD34+ cells, known to circulate at high frequency in the peripheral blood of TCIRG1-deficient patients, as a novel cell source for autologous transplantation of gene corrected cells. Read More

Bone Rep 2020 Jun 7;12:100242. Epub 2020 Jan 7.

CNR-IRGB, Milan Unit, via Fantoli 16/15, 20138 Milan, Italy.

Background: Autosomal recessive osteopetrosis is a rare skeletal disorder with increased bone density due to a failure in osteoclast bone resorption. In most cases, the defect is cell-autonomous, and >50% of patients bear mutations in the gene, encoding for a subunit of the vacuolar proton pump essential for osteoclast resorptive activity. The only cure is hematopoietic stem cell transplantation, which corrects the bone pathology by allowing the formation of donor-derived functional osteoclasts. Read More

Philos Trans R Soc Lond B Biol Sci 2020 03 13;375(1793):20190143. Epub 2020 Jan 13.

Department of Geology, Université de Liège, 14 Allée du 6 Aout, Liège 4000, Belgium.

The histology of sauropod long bones often appears uniform and conservative along their evolutionary tree. One of the main aspects of their bone histology is to exhibit a fibrolamellar complex in the cortex of their long bones. Here, we report another bone tissue, the radial fibrolamellar bone (RFB), in the outer cortex of the humeri of a young adult cf. Read More

Bone 2020 May 30;134:115218. Epub 2019 Dec 30.

Service de Rhumatologie, Hôpital Edouard Herriot, 5 Place d'Arsonval, 69003 Lyon, France.

We show the value of genetic screening in 3 adults with limited phenotypes of three bone sclerosing genetic disease (GD): osteopetrosis (OPT), Camurati-Engelmann disease (CED) and pycnodysostosis.

Introduction: OPT, CED and pycnodysostosis are three rare bone diseases often diagnosed in childhood. However, some atypical phenotypes raise the problem of delayed diagnosis in adults. Read More

Orphanet J Rare Dis 2019 12 30;14(1):300. Epub 2019 Dec 30.

West Midlands Clinical Genetics Unit, Birmingham Women's and Children's NHS FT and Birmingham Health Partners, Birmingham, UK.

Background: Rare bone diseases account for 5% of all birth defects yet very few have personalised treatments. Developments in genetic diagnosis, molecular techniques and treatment technologies however, are leading to unparalleled therapeutic advance. This review explores the evolving therapeutic landscape of genetic skeletal disorders (GSDs); the key conditions and there key differentials. Read More

Cell Biochem Funct 2020 Apr 30;38(3):300-308. Epub 2019 Dec 30.

Division of Molecular Signaling and Biochemistry, Department of Health Improvement, Kyushu Dental University, Kitakyushu, Japan.

Podosome formation in osteoclasts is an important initial step in osteoclastic bone resorption. Mice lacking c-Src (c-Src ) exhibited osteopetrosis due to a lack of podosome formation in osteoclasts. We previously identified p130Cas (Crk-associated substrate [Cas]) as one of c-Src downstream molecule and osteoclast-specific p130Cas-deficient (p130Cas ) mice also exhibited a similar phenotype to c-Src mice, indicating that the c-Src/p130Cas plays an important role for bone resorption by osteoclasts. Read More

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

Cells 2019 12 14;8(12). Epub 2019 Dec 14.

Department of Biological Endodontics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8553, Japan.

Nuclear factor-κB (NF-κB) is a transcription factor that regulates the expression of various genes involved in inflammation and the immune response. The activation of NF-κB occurs via two pathways: inflammatory cytokines, such as TNF-α and IL-1β, activate the "classical pathway", and cytokines involved in lymph node formation, such as CD40L, activate the "alternative pathway". NF-κB1 (p50) and NF-κB2 (p52) double-knockout mice exhibited severe osteopetrosis due to the total lack of osteoclasts, suggesting that NF-κB activation is required for osteoclast differentiation. Read More

Front Neurol 2019 21;10:1244. Epub 2019 Nov 21.

Department of Otolaryngology, Head and Neck Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

In the mammalian cochlea, resident macrophages settle in the spiral ligament, spiral ganglion, and stria vascularis, even at the steady state. Resident macrophages in the cochlea are believed to maintain homeostasis in the inner ear and become active, as part of the front line defense, following inner ear damage. However, the exact roles of cochlear resident macrophages require further clarification. Read More

Stem Cell Res 2020 01 20;42:101660. Epub 2019 Nov 20.

A. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

Autosomal recessive osteopetrosis (ARO) is a rare inherited disorder leading to increased bone density with impairment in bone resorption. Among the genes responsible for ARO, the TCIRG1 gene, coding for the a3 subunit of the osteoclast proton pump, is mutated in more than 50% of the cases, increasing the importance of TCIRG1-iPSCs as disease model. We generated 3 iPSC clones derived from Peripheral Blood Mononuclear Cells (PBMCs) of a patient carrying the heterozygous mutations p. Read More

Injury 2020 Feb 22;51(2):565-569. Epub 2019 Nov 22.

Department of Orthopedic Surgery, Jichi Medical University, Japan. Electronic address:

Introduction: Osteopetrosis is a heritable disease characterized by the dysfunction of osteoclasts, resulting in decreased bone resorption and increased bone density. Fractures are a common complication of osteopetrosis, which are challenging for orthopedic surgeons to treat because the condition renders canal reaming and screw placement difficult.

Materials And Methods: Data of patients with osteopetrosis from 2011 to 2019, which were available from an electronic medical database, were retrospectively analyzed. Read More

Pediatr Endocrinol Rev 2019 Dec;17(2):84-99

Centre for Bone and Arthritis Research at Department of Internal Medicine and Clinical Nutrition, Institute for Medicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden, E-mail:

Osteoclasts are multinucleated, giant cells originating from myeloid hematopoetic stem cells. These are the only cells in nature which can resorb bone. Differentiation of mononucleated osteoclast progenitor cells requires stimulation with M-CSF (macrophage colony-stimulating factor) for the cells to proliferate and survive and with RANKL (receptor activator of nuclear factor kappa B ligand) for differentiation along the osteoclastic lineage to cells which eventually fuse to the mature, multinucleated osteoclasts. Read More

Sci Rep 2019 11 21;9(1):17312. Epub 2019 Nov 21.

Center for Musculoskeletal Disease Research, University of Arkansas for Medical Sciences, Little Rock, 72205, AR, USA.

Drawbacks of conditional gene deletion in mice include the need for extensive breeding and, often, a lack of cell type-specificity. CRISPR interference (CRISPRi) is an alternative approach for loss-of-function studies that inhibits expression by guiding a transcriptional repressor to the transcription start-site of target genes. However, there has been limited exploration of CRISPRi in mice. Read More

J Pediatr Orthop 2019 Nov 14. Epub 2019 Nov 14.

Department of Orthopaedic Surgery.

Background: The use of modern rigid instrumentation in pediatric cervical fusions decreases the risk of implant-related complications, both acute and long term. However, previous studies have indicated that acute implant-related issues still occur in the adult population. Reports of pediatric acute implant complications, occurring within 3 months of surgery, are under-represented in the literature. Read More

Bone 2020 Feb 12;131:115153. Epub 2019 Nov 12.

Anticancer Agent Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Ochang, Cheongju 28116, Republic of Korea; Department of Biomolecular Science, University of Science and Technology, Daejeon 34113, Republic of Korea. Electronic address:

Bone homeostasis is regulated by a balance of bone formation and bone resorption; dysregulation of bone homeostasis may cause bone-related diseases (e.g., osteoporosis, osteopetrosis, bone fracture). Read More

Bone 2020 Jan 6;130:115144. Epub 2019 Nov 6.

Division of Bone and Mineral Diseases, Department of Medicine, Washington University School of Medicine, 660 S. Euclid Ave, CB 8301, St. Louis, MO 63110, USA. Electronic address:

Objective: Autosomal recessive osteopetrosis (ARO) is a rare congenital disorder of defective bone resorption. The inability of osteoclasts to resorb bone compromises the development of bone marrow cavity, and ultimately, leads to defective hematopoiesis and death within the first decade. The only curative treatment currently available for certain forms of ARO is hematopoietic stem cell transplantation (HSCT). Read More

JBJS Case Connect 2019 Dec;9(4):e0179

Lilavati Hospital & Research Centre, Mumbai, India.

Case: We describe a nonambulatory 39-year-old man who presented with a diagnosis of osteopetrosis and ankyloses, having experienced bilateral fractures of his proximal femora, undergone unsuccessful conventional surgical interventions, and having developed chronic osteomyelitis of his right proximal femur. Bilateral Girdlestone procedures were performed. Postoperative range of hip motion and Harris hip scores improved, and he became ambulatory, achieving optimal function considering the circumstances at 12 months postoperatively. Read More

Spec Care Dentist 2020 Jan 1;40(1):113-120. Epub 2019 Nov 1.

Department of Pediatric Dentistry, School of Dentistry, Aristotle University of Thessaloniki, Central Macedonia, Greece.

Background/aim: Osteopetrosis is an inherited disease characterized by increased bone density. Its genetic variability results in various phenotype expressions, whereas clinically are classified in three types: malignant infantile, intermediate and adult. The various oral manifestations of the disease give a crucial role to the pediatric dentists in diagnosis. Read More

J Korean Med Sci 2019 Oct 28;34(41):e267. Epub 2019 Oct 28.

Department of Endocrinology & Metabolism, Kyung Hee University Hospital, Seoul, Korea.

Background: Tetrabromobisphenol A (TBBPA), one of the most widely used brominated flame-retardants, is a representative persistent organic pollutants group. Studies on TBBPA toxicity have been conducted using various target cells; however, few studies have investigated TBBPA toxicity in bone cells. Therefore, this study investigated the in vitro effects of TBBPA on osteoclasts, a cell type involved in bone metabolism. Read More