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JBMR Plus 2022 Jun 29;6(6):e10616. Epub 2022 Apr 29.

Department of Medicine Indiana University School of Medicine Indianapolis IN USA.

The osteopetroses are a group of rare genetic diseases caused by osteoclast dysfunction or absence. The hallmark of osteopetrosis is generalized increased bone mineral density (BMD). However, the bone is fragile and fractures are common. Read More

Front Immunol 2022 27;13:879994. Epub 2022 May 27.

Department of Bone Marrow Transplantation and Cancer Immunotherapy, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

Autoimmune cytopenia (AIC) is a rare complication post hematopoietic stem cell transplantation (HSCT), with a higher incidence in nonmalignant diseases. The etiology of post-HSCT AIC is poorly understood, and in many cases, the cytopenia is prolonged and refractory to treatment. Diagnosis of post-HSCT AIC may be challenging, and there is no consensus for a standard of care. Read More

NMC Case Rep J 2022 21;9:73-76. Epub 2022 Apr 21.

Department of Neurosurgery, Saitama Medical Center, Saitama Medical University, Saitama, Japan.

There are various causes of ventriculoperitoneal shunt (VPS) failures. Patients who receive shunt placement during childhood need follow-up for decades as they grow, especially in the early periods of life. Herein, we report a rare case of mechanical shunt obstruction in a pediatric patient in whom a cramped burr hole and skull growth compressed the tube and obstructed cerebrospinal fluid flow. Read More

Int J Mol Sci 2022 May 14;23(10). Epub 2022 May 14.

Division of Molecular Signaling and Biochemistry, Department of Health Improvement, Kyushu Dental University, Kitakyushu 803-8580, Japan.

Osteoclasts, which resorb the bone, and osteoblasts, which form the bone, are the key cells regulating bone homeostasis. Osteoporosis and other metabolic bone diseases occur when osteoclast-mediated bone resorption is increased and bone formation by osteoblasts is decreased. Analyses of tyrosine kinase Src-knockout mice revealed that Src is essential for bone resorption by osteoclasts and suppresses bone formation by osteoblasts. Read More

Calcif Tissue Int 2022 May 26. Epub 2022 May 26.

Centre for Orthopaedic & Trauma Research, Faculty of Health and Medical Sciences, Adelaide Health and Medical Sciences Building, The University of Adelaide, North Terrace, Adelaide, SA, 5005, Australia.

Osteopetrosis is a heterogeneous group of rare hereditary diseases characterized by increased bone mass of poor quality. Autosomal-dominant osteopetrosis type II (ADOII) is most often caused by mutation of the CLCN7 gene leading to impaired bone resorption. Autosomal recessive osteopetrosis (ARO) is a more severe form and is frequently accompanied by additional morbidities. Read More

Semin Musculoskelet Radiol 2022 Apr 24;26(2):194-196. Epub 2022 May 24.

Radiologische Klinik und Poliklinik, Ludwig-Maximilian-University Hospital, Munich, Germany.

This history page in the series "Leaders in Musculoskeletal Radiology" is dedicated to the memory and achievements of the German physician Heinrich Albers-Schönberg, a pioneer of radiology whose name is connected to the medical eponym Albers-Schönberg's disease, also referred to as osteopetrosis or marble bone disease. Read More

Comput Methods Biomech Biomed Engin 2022 May 19:1-13. Epub 2022 May 19.

Numerical Methods and Modeling Research Group (GNUM), Universidad Nacional de Colombia.

Multiphysics models have become a key tool in understanding the way different phenomenon are related in bone remodeling and various approaches have been proposed, yet, to the best of the author's knowledge there is no model able to link a cell population model with a mechanical stimulus model using a discrete approach, which allows for an easy implementation. This article couples two classical models, the cell population model from Komarova and the Nackenhorst model in a 2D domain, where correlations between the mechanical loading and the cell population dynamics can be established, furthermore the effect of different paracrine and autocrine regulators is seen on the overall density of a portion of trabecular bone. A discretization is performed using frame 1D finite elements, representing the trabecular structure. Read More

Front Mol Biosci 2022 28;9:879875. Epub 2022 Apr 28.

Institute of Chemical Engineering, Department of Immunochemistry, Ural Federal University, Yekaterinburg, Russia.

T Cell Immune Regulator 1, ATPase H + Transporting V0 Subunit A3 (TCIRG1 gene provides instructions for making one part, the a3 subunit, of a large protein complex known as a vacuolar H + -ATPase (V-ATPase). V-ATPases are a group of similar complexes that act as pumps to move positively charged hydrogen atoms (protons) across membranes. Single amino acid changes in highly conserved areas of the TCIRG1 protein have been linked to autosomal recessive osteopetrosis and severe congenital neutropenia. Read More

Trauma Case Rep 2022 Jun 30;39:100644. Epub 2022 Apr 30.

Department of Medicine for Orthopaedics and Motor Organ, Juntendo University Graduate School of Medicine, Japan.

Bisphosphonate treatment has known effects of improving bone mineral density and preventing fractures in children with steroid-induced osteoporosis. However, there have been reports that high-dosage pamidronate therapy induces osteopetrosis in the borders of bones. A 10-year-old boy undergoing long-term treatment with oral alendronate developed frequent fractures throughout adolescence while playing basketball. Read More

Int J Mol Sci 2022 Apr 26;23(9). Epub 2022 Apr 26.

Laboratoire d'Organogenèse et Régénération, GIGA-I3, B34, Université de Liège, 4000 Liège, Belgium.

Zebrafish larvae, especially gene-specific mutants and transgenic lines, are increasingly used to study vertebrate skeletal development and human pathologies such as osteoporosis, osteopetrosis and osteoarthritis. Probiotics have been recognized in recent years as a prophylactic treatment for various bone health issues in humans. Here, we present two new zebrafish transgenic lines containing the coding sequences for fluorescent proteins inserted into the endogenous genes for and with larvae displaying fluorescence in developing osteoblasts and the bone extracellular matrix (mineralized or non-mineralized), respectively. Read More

BMJ Case Rep 2022 May 12;15(5). Epub 2022 May 12.

Oral and Maxillofacial Surgery, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.

Osteosclerotic metaphyseal dysplasia (OMD) is an extremely rare form of osteopetrosis, which bears significant clinical similarities to dysosteosclerosis (DSS). We aim to present a rare case of OMD with mandibular swelling and osteomyelitis infection including diagnosis journey as well as management in 7-year-old patient. Literature review completed for OMD cases. Read More

Sisli Etfal Hastan Tip Bul 2022 28;56(1):161-165. Epub 2022 Mar 28.

Department of Pediatric Hematology and Oncology, Dr. Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Izmir, Turkey.

Autosomal recessive osteopetrosis is also known as infantile malignant osteopetrosis (IMO). The clinical course is often serious and if left untreated, it is fatal in the 1st year of life. Diagnosis is challenging and often delayed or misdiagnosed. Read More

Immunity 2022 05 3;55(5):862-878.e8. Epub 2022 May 3.

Toronto General Research Institute, University Health Network, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada; Department of Immunology, University of Toronto, Toronto, ON, Canada; Peter Munk Cardiac Centre, Toronto, ON, Canada. Electronic address:

Macrophage colony stimulating factor-1 (CSF-1) plays a critical role in maintaining myeloid lineage cells. However, congenital global deficiency of CSF-1 (Csf1) causes severe musculoskeletal defects that may indirectly affect hematopoiesis. Indeed, we show here that osteolineage-derived Csf1 prevented developmental abnormalities but had no effect on monopoiesis in adulthood. Read More

Biol Futur 2022 May 4. Epub 2022 May 4.

Biological Research Centre, Eötvös Loránd Research Network, Szeged, Hungary.

Lysosomal degradation of cytoplasmic components by autophagy ensures the continuous turnover of proteins and organelles and aids cellular survival during nutrient deprivation and other stress conditions. Lysosomal targeting of cytoplasmic proteins and organelles requires the concerted action of several proteins and multisubunit complexes. The core components of this machinery are conserved from yeast to humans and many of them are well-characterized; however, novel molecular players have been recently discovered and are waiting for detailed analysis. Read More

Cancer Gene Ther 2022 May 3. Epub 2022 May 3.

Department of Surgery, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.

Transmembrane ATPases are membrane-bound enzyme complexes and ion transporters that can be divided into F-, V-, and A-ATPases according to their structure. The V-ATPases, also known as H-ATPases, are large multi-subunit protein complexes composed of a peripheral domain (V1) responsible for the hydrolysis of ATP and a membrane-integrated domain (V0) that transports protons across plasma membrane or organelle membrane. V-ATPases play a fundamental role in maintaining pH homeostasis through lysosomal acidification and are involved in modulating various physiological and pathological processes, such as macropinocytosis, autophagy, cell invasion, and cell death (e. Read More

iScience 2022 Apr 25;25(4):104160. Epub 2022 Mar 25.

Institut de Recherches Cliniques de Montréal, 110 West Pins Avenue, Montréal, QC H2W 1R7, Canada.

mutations cause the severe form of osteopetrosis with bone marrow deficiency in humans and mice, yet a role in T cell ontogeny remains to be determined. Herein, we show that thymi of the -null mice (gl/gl) from P8-to-P15 become markedly hypocellular with disturbed architecture. Analysis of gl/gl early T cell program determined a major decrease of 3-fold in bone marrow common lymphoid precursors (CLP), 35-fold in early thymic precursors (ETPs) and 100-fold in T cell double positive subpopulations. Read More

Oman J Ophthalmol 2022 Jan-Apr;15(1):117-118. Epub 2022 Mar 2.

Department of Radiology, Medical Research Foundation, Chennai, Tamil Nadu, India.

Front Endocrinol (Lausanne) 2022 17;13:819641. Epub 2022 Mar 17.

Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.

Background: Autosomal dominant osteopetrosis II (ADO II, MIM166600) is a sclerosing bone disorder caused by mutation. The main clinical characteristics include minor trauma-related fracture and hip osteoarthritis, whereas cranial nerve palsy and bone marrow failure rarely develop. Although it is generally believed that ADO II has a relatively benign course, the natural course of the disease in Chinese patients remains unclear. Read More

Stem Cells Transl Med 2022 03;11(3):310-321

Center for Stem Cell Research and Development PEDI-STEM, Hacettepe University, Ankara, Turkey.

Osteopetrosis is a rare inherited disease characterized by impaired osteoclast activity causing defective bone resorption and bone marrow aplasia. It is fatal in early childhood unless hematopoietic stem cell transplantation is performed. But, the transplant course is complicated with engraftment failure. Read More

Bone 2022 07 25;160:116397. Epub 2022 Mar 25.

Department of Neurosciences, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA. Electronic address:

The cellular and molecular mechanisms of bone development and homeostasis are clinically important, but not fully understood. Mutations in integrins and Kindlin3 in humans known as Leukocyte adhesion deficiencies (LAD) cause a wide spectrum of complications, including osteopetrosis. Yet, the rarity, frequent misdiagnosis, and lethality of LAD preclude mechanistic analysis of skeletal abnormalities in these patients. Read More

JBMR Plus 2022 Mar 25;6(3):e10597. Epub 2022 Jan 25.

Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center Torrance CA USA.

The only treatment currently available for patients with severe infantile osteopetrosis is hematopoietic cell transplantation (HCT). HCT-related toxicity and mortality risks typically preclude its use in non-infantile patients, and other therapies are needed for these patients who have significant disease-related morbidity. Interferon gamma-1b is currently approved by the U. Read More

Cureus 2022 Feb 3;14(2):e21886. Epub 2022 Feb 3.

Orthopedic Surgery, West Virginia University School of Medicine, Morgantown, USA.

Osteopetrosis is a genetic illness defined by defective osteoclasts that are incapable of absorbing adequate amounts of bone. This exceedingly rare disorder has been linked to multiple genetic mutations that have a direct impact on osteoclast function. Osteopetrosis causes bones to become brittle with large amounts of cortical bone formation making patients susceptible to pathologic fractures, pancytopenia, and cranial neuropathies among other sequelae. Read More

Bone 2022 May 28;158:116345. Epub 2022 Feb 28.

Humanitas Clinical and Research Institute, Rozzano, Italy; CNR-IRGB, Milan Unit, Milan, Italy.

J Int Adv Otol 2021 Nov;17(6):551-558

Department of Otorhinolaryngology, Ghent University Hospital, Ghent, Belgium.

Osteopetrosis, or marble bone disease, is a rare genetic disease of bone resorption. It includes a clinically heterogeneous group of conditions that are characterized by increased bone density on radiographs due to a defect in osteoclasts. A most common feature of osteopetrosis of the temporal bone is hearing impairment. Read More

Hum Gene Ther 2022 02;33(3-4):213-214

Hematology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.

Cells 2022 01 21;11(3). Epub 2022 Jan 21.

Institute of Biophysics-CNR, 16149 Genova, Italy.

CLC proteins comprise Cl channels and anion/H antiporters involved in several fundamental physiological processes. ClC-7 is a lysosomal Cl/H antiporter that together with its beta subunit Ostm1 has a critical role in the ionic homeostasis of lysosomes and of the osteoclasts' resorption lacuna, although the specific underlying mechanism has so far remained elusive. Mutations in ClC-7 cause osteopetrosis, but also a form of lysosomal storage disease and neurodegeneration. Read More

Indian J Radiol Imaging 2021 Oct 10;31(4):1019-1022. Epub 2022 Jan 10.

Department of Radiodiagnosis, All India Institute of Medical Sciences, Raipur, Chhattisgarh, India.

Systemic sclerosis is a connective tissue disorder of unknown etiology. Although it is a multisystemic disorder, skin thickening is considered as a hallmark of the disease. It usually involves the lungs, gastrointestinal, and musculoskeletal systems. Read More

HGG Adv 2022 Jan 25;3(1):100059. Epub 2021 Sep 25.

Harvard Medical School, Boston, MA, USA.

Hematopoietic stem cell transplant (HSCT) can prevent progression of several genetic disorders. Although a subset of these disorders are identified on newborn screening panels, others are not identified until irreversible symptoms develop. Genetic testing is an efficient methodology to ascertain pre-symptomatic children, but the penetrance of risk-associated variants in the general population is not well understood. Read More

World J Clin Cases 2021 Dec;9(35):11007-11015

Departments of Orthopedics, The Second Hospital of Jilin University, Changchun 130041, Jilin Province, China.

Background: As a congenital metabolic bone disease caused by defective osteoclastic resorption of immature bone, osteopetrosis is characterized by diffused sclerosis of bones, brittle bones, easy fracturing, narrow medullary canals, and a weak fracture healing ability. At present, clear standards and principles for the treatment of fractures in patients with osteopetrosis are lacking. Non-operative treatment can prevent fracture hematoma and preserve the blood supply to the bone fragments, while being associated with frequent failures and higher mortality rates. Read More