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iScience 2018 Dec 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 2018 Dec 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 2018 Dec 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 2018 Nov 13. 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 2018 Oct 26:1-8. 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

Endocr Pract 2018 Jul 23. Epub 2018 Jul 23.

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

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

J Bone Miner Res 2018 Nov 30;33(11):2071-2080. Epub 2018 Jul 30.

Pediatrics/Hematology, CHOC Children's Hospital - UC Irvine, Orange, CA, USA.

Pediatric granulomatous arthritis (PGA) refers to two formerly separate entities: autosomal dominant Blau syndrome (BS) and its sporadic phenocopy early-onset sarcoidosis (EOS). In 2001 BS and in 2005 EOS became explained by heterozygous mutations within the gene that encodes nucleotide-binding oligomerization domain-containing protein 2 (NOD2), also called caspase recruitment domain-containing protein 15 (CARD15). NOD2 is a microbe sensor in leukocyte cytosol that activates and regulates inflammation. Read More

J Clin Orthop Trauma 2018 Jun 27;9(Suppl 2):S49-S51. Epub 2017 Oct 27.

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

Mol Biol Rep 2018 Jun 20. Epub 2018 Jun 20.

Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-i-Azam University, Islamabad, 45320, Pakistan.

Autosomal recessive osteopetrosis is a severe fatal disorder with an average incidence of around 1:250,000. It is diagnosed soon after birth or within the 1st year of life with severe symptoms of abnormal bone remodelling. This study was aimed to identify the underlying genetic cause of the disease in a Pakistani family segregating infantile malignant osteopetrosis in autosomal recessive pattern. Read More

Genomics Proteomics Bioinformatics 2018 06 13;16(3):172-186. Epub 2018 Jun 13.

Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Department of Biochemistry and Molecular Biology, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address:

As a dioxygenase, Ten-Eleven Translocation 2 (TET2) catalyzes subsequent steps of 5-methylcytosine (5mC) oxidation. TET2 plays a critical role in the self-renewal, proliferation, and differentiation of hematopoietic stem cells, but its impact on mature hematopoietic cells is not well-characterized. Here we show that Tet2 plays an essential role in osteoclastogenesis. Read More

Adv Drug Deliv Rev 2018 Aug 7;133:87-92. Epub 2018 Jun 7.

Pulmonary, Critical Care & Sleep Medicine, Department of Medicine, State University of New York at Stony Brook, 101 Nicolls Rd, HSC T-17-040, Stony Brook, NY 11794-8172, United States. Electronic address:

Pulmonary diseases frequently involve imbalances in immunity. The inability to control bacteria in tuberculosis is a failed response to a pathogen. Idiopathic pulmonary fibrosis (IPF), a progressive fibrotic lung disease, can lead to respiratory failure and death within 3 years of diagnosis. Read More

Physiol Rev 2018 07;98(3):1493-1590

Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP) and Max-Delbrück-Centrum für Molekulare Medizin (MDC), Berlin , Germany ; and Istituto di Biofisica, Consiglio Nazionale delle Ricerche, Genova , Italy.

CLC anion transporters are found in all phyla and form a gene family of eight members in mammals. Two CLC proteins, each of which completely contains an ion translocation parthway, assemble to homo- or heteromeric dimers that sometimes require accessory β-subunits for function. CLC proteins come in two flavors: anion channels and anion/proton exchangers. Read More

Bone 2018 Sep 23;114:1-13. Epub 2018 May 23.

Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:

Survival of chronic diseases in childhood is often achieved utilizing glucocorticoids, but comes with significant side effects, including glucocorticoid-induced osteoporosis (GIO). Knowledge of the mechanism of GIO is limited to the adult skeleton. We explored the effect of genetic loss and inhibition of cathepsin K (Ctsk) as a potential treatment target in a young GIO mouse model as genetic loss of cathepsin K results in a mild form of osteopetrosis secondary to impaired osteoclast bone resorption with maintenance of bone formation. Read More

Neuroophthalmology 2018 Jun 8;42(3):164-168. Epub 2017 Sep 8.

Department of Ophthalmology, King Saud University, Riyadh, Saudi Arabia.

The outcome of two patients with visual loss from osteopetrosis who underwent an optic nerve sheath fenestration (ONSF) is reported. A 20-year-old male and 26-year-old female with osteopetrosis had optic nerve edema. Computed tomography and magnetic resonance imaging demonstrated optic canals stenosis. Read More

Mech Dev 2018 Dec 5;154:73-81. Epub 2018 Jun 5.

Developmental Neurobiology and Neurophysiology Department, Instituto de Neurobiología, Universidad Nacional Autónoma de México, Campus UNAM Juriquilla, Querétaro c.p.76230, Mexico. Electronic address:

The Fos oncogene gene family is evolutionarily conserved throughout Eukarya. Fos proteins characteristically have a leucine zipper and a basic region with a helix-turn-helix motif that binds DNA. In vertebrates, there are several Fos homologs. Read More

Eur J Paediatr Neurol 2018 Jul 18;22(4):718-724. Epub 2018 Apr 18.

Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Iran; Hematology, Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Iran. Electronic address:

Objectives: Malignant Infantile Osteopetrosis (MIOP) is a rare inherited disorder with neurological complications, notably visual impairment and decrease of hearing level. Although Hematopoietic Stem Cell Transplantation (HSCT) has been approved as the only curative treatment for these patients, the exact impact of it on visual and hearing level is still unclear.

Study Design: We analyzed the P2 latency and amplitude from Visual Evoked Potentials (VEP) of 10 patients (20 eyes) and the threshold of wave V from Auditory Brainstem Response (ABR) of 15 patients (30 ears) with MIOP before, 6 and 12 months after HSCT. Read More

Rev Alerg Mex 2018 Jan-Mar;65(1):108-116

Secretaría de Salud, Instituto Nacional de Pediatría, Unidad de Investigación en Inmunodeficiencias, Ciudad de México, México.

Background: Osteopetrosis is a heterogeneous group of diseases that are characterized by increased bone density due to abnormalities in osteoclast differentiation or function, which result in a lack of bone resorption.

Case Reports: Two patients with osteopetrosis onset since the first months of life, with facial dysmorphia, blindness, deafness, hepatosplenomegaly, hypotonia, neurodevelopmental retardation and bicytopenia. Bone radiographs showed osteosclerosis. Read More

World Neurosurg 2018 Jul 27;115:225-228. Epub 2018 Apr 27.

Department of Neurosurgery, José María Ramos Mejía General Hospital, Buenos Aires, Argentina.

Background: Worth syndrome or autosomal dominant endosteal hyperostosis (ADEH) is an extremely rare genetic disease involving increased bone density. To the author's knowledge, this is the second case report of a family with neurologic involvement associated with this condition along with its surgical treatment. The most effective treatment for clinically significant neurologic symptoms in this scenario is currently unknown, and there is sparse experience on surgical treatment for this condition reported in the literature. Read More

Skeletal Radiol 2018 09;47(9):1285-1288, 1311-2

Department of Pediatric Medical Imaging, "Queen Fabiola" Children's University Hospital, Université Libre de Bruxelles, 15 Av. J. J. Crocq, 1020, Brussels, Belgium.

Curr Osteoporos Rep 2018 06;16(3):256-268

Centre of Medical Genetics, University of Antwerp & University Hospital Antwerp, Antwerp, Belgium.

Purpose Of Review: The group of sclerosing bone disorders encompasses a variety of disorders all marked by increased bone mass. In this review, we give an overview of the genetic causes of this heterogeneous group of disorders and briefly touch upon the value of these findings for the development of novel therapeutic agents.

Recent Findings: Advances in the next-generation sequencing technologies are accelerating the molecular dissection of the pathogenic mechanisms underlying skeletal dysplasias. Read More

Bone Res 2018 28;6. Epub 2018 Mar 28.

1Department of Cancer Biology and Genetics and Comprehensive Cancer Center, The Ohio State University Wexner Medical Center, Columbus, OH 43210 USA.

Genome-wide association studies (GWASs) have been instrumental in understanding complex phenotypic traits. However, they have rarely been used to understand lineage-specific pathways and functions that contribute to the trait. In this study, by integrating lineage-specific enhancers from mesenchymal and myeloid compartments with bone mineral density loci, we were able to segregate osteoblast- and osteoclast (OC)-specific functions. Read More