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Materials (Basel) 2018 Dec 13;11(12). Epub 2018 Dec 13.

Henry Moseley X-ray Imaging Facility, Henry Royce Institute, School of Materials, The University of Manchester, Manchester M13 9PL, UK.

Bone is a complex material comprising high stiffness, but brittle, crystalline bio-apatite combined with compliant, but tough, collagen fibres. It can accommodate significant deformation, and the bone microstructure inhibits crack propagation such that micro-cracks can be quickly repaired. Catastrophic failure (bone fracture) is a major cause of morbidity, particularly in aging populations, either through a succession of small fractures or because a traumatic event is sufficiently large to overcome the individual crack blunting/shielding mechanisms. Read More

J Pediatr Orthop 2019 Jan;39(1):e12-e17

Children's Healthcare of Atlanta.

Introduction: The insertion of 2 elastic stable intramedullary nails (ESINs) is a common treatment for pediatric femur fractures. However, the use of this technique in length-unstable or metadiaphyseal fractures has historically been associated with higher complication rates. To improve stability, the addition of a third ESIN has been assessed biomechanically and clinically, but the addition of a fourth nail has only been evaluated biomechanically. Read More

Medicine (Baltimore) 2018 Nov;97(48):e13210

Rheumatology Division, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.

Rationale: Hypophosphatasia is an inborn error of metabolism that can appear any time in life, mainly with bone manifestations due to low alkaline phosphatase activity. Asfotase alfa is a specific enzyme reposition treatment that has shown promising results in children; however, there are few reports about the outcomes in adult patients.

Patient Concerns: A 36-year-old male presented with an early history of craniosynostosis, short stature, and multiple fractures since the age of 13 years-which needed numerous surgical corrections. Read More

Am J Emerg Med 2018 Nov 17. Epub 2018 Nov 17.

Department of Emergency Medicine, Kocaeli University, Faculty of Medicine, Kocaeli, Turkey.

Mefenamic acid is a fenamate nonsteroidal anti-inflammatory (NSAI) drug, which is used for several years for pain management. However, it has been rarely reported that, mefenamic acid can induce central nervous system toxicity both in toxic doses and therapeutic usage. We report a case of a 27-year-old female who presented to the emergency department (ED) with altered mental status and vomiting. 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

J Craniovertebr Junction Spine 2018 Jul-Sep;9(3):212-215

Department of Orthopaedics, Nemours/Alfred I. Dupont Hospital for Children, Wilmington, Delaware, USA.

Basilar impression is a cranial base abnormality associated with osteogenesis imperfecta (OI) with serious neurologic implications but controversial treatment options. Combined anterior and posterior decompression with long-segment posterior fusion is often recommended. We report a patient with OI (Sillence type III) with basilar impression treated with halo traction followed by posterior surgery. Read More

Eur J Ophthalmol 2018 Nov 8:1120672118811247. Epub 2018 Nov 8.

2 Department of Ophthalmology, IRCCS - Fondazione Bietti, Rome, Italy.

Purpose:: To evaluate the role of multimodal imaging in the diagnosis and monitoring of patients with osteogenesis imperfecta complicated with choroidal neovascularization.

Case Report:: A 28-year-old man, diagnosed with osteogenesis imperfecta, was referred 2 months after the appearance of central scotoma and metamorphopsia in the right eye. The patient underwent a complete ophthalmological evaluation including visual acuity examination as well as ophthalmoscopy, spectral-domain optical coherence tomography, optical coherence tomography angiography, fundus autofluorescence imaging, fluorescein angiography and microperimetry. Read More

J Mech Behav Biomed Mater 2019 Feb 11;90:125-132. Epub 2018 Oct 11.

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department Hanusch Hospital, Vienna, Austria.

Higher skeletal fragility has been established for the Brtl/+ mouse model of osteogenesis imperfecta at the whole bone level, but previous investigations of mechanical properties at the bone material level were inconclusive. Bone material was analyzed separately at endosteal (ER) and periosteal regions (PR) on transverse femoral midshaft sections for 2-month old mice (wild-type n = 6; Brtl/+ n = 6). Quantitative backscattered electron imaging revealed that the mass density computed from mineral density maps was higher in PR than in ER for both wild-type (+2. Read More

Pediatr Radiol 2019 Jan 3;49(1):3-22. Epub 2018 Oct 3.

Aoba Ward, Miyagi Children's Hospital, Sendai, Miyagi Prefecture, Japan.

Perinatal hypophosphatasia (HPP) is a rare, potentially life-threatening, inherited, systemic metabolic bone disease that can be difficult to recognize in utero and postnatally. Diagnosis is challenging because of the large number of skeletal dysplasias with overlapping clinical features. This review focuses on the role of fetal and neonatal imaging modalities in the differential diagnosis of perinatal HPP from other skeletal dysplasias (e. Read More

Oral Dis 2018 Aug 7. Epub 2018 Aug 7.

Health Sciences Faculty, University of Brasília, Brasília, Brazil.

The purpose of this systematic review was to evaluate the potential use of dental imaging assessment of trabecular bone structure in the maxillomandibular complex as an adjuvant screening tool to identify systemic disorders. Five electronic databases and grey literature were searched. Studies were included if they investigated subjects with altered trabecular bone determined by dental radiographs. Read More

J Belg Soc Radiol 2017 Aug 11;101(1):27. Epub 2017 Aug 11.

Ziekenhuizen Oost-Limburg, Genk, BE.

We present the case of a 33-year old woman with osteogenesis imperfecta (OI) with progressive hearing loss and persisting vertigo. On CT-scan, symmetric extensive lucency in the pericochlear bony otic capsule and promontorium was demonstrated. The MRI-scan demonstrated symmetric areas of increased signal intensity on the T2-images with moderate contrast enhancement in the same regions. Read More

Pediatr Rev 2018 Jul;39(7):366-369

Department of Pediatrics, University of Nevada Las Vegas School of Medicine, Las Vegas, NV.

Bone 2018 Sep 27;114:252-256. Epub 2018 Jun 27.

Department of Endocrinology and Diabetes, Birmingham Women's and Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK. Electronic address:

Objectives: To estimate the cumulative effective dose of radiation (E) and additional lifetime attributable risk (LAR) of cancer from ionizing radiation in children with osteogenesis imperfecta (OI), who require frequent imaging for fractures and bone densitometry (DXA) surveillance. Also, to evaluate the pattern of long bone fractures.

Methods: We reviewed all imaging (x-rays, DXA and computed tomography [CT]) conducted in a cohort of children with OI with a minimum observation period of 5 years. Read More

Bone 2018 Sep 22;114:268-277. Epub 2018 Jun 22.

Dept. of Medical Sciences, Uppsala University Hospital, Uppsala, Sweden.

Background: Mutations of the endoplasmic reticulum (ER)-stress transducer OASIS (encoded by CREB3L1), cause severe recessive osteogenesis imperfecta (OI) not compatible with surviving the neonatal period, as has been shown in two unrelated families through a whole gene deletion vs. a qualitative alteration of OASIS. Heterozygous carriers in the described families have exhibited a mild phenotype. Read More

Med Princ Pract 2018 21;27(5):451-458. Epub 2018 Jun 21.

Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.

Objective: Craniofacial disharmony in skeletal diseases is strongly associated with sleep-disordered breathing. This study was aimed at studying the sleep respiratory patterns in young children with rare skeletal disorders.

Design: This retrospective study included children with achondroplasia (ACH), osteogenesis imperfecta (OI) and Ellis van Creveld Syndrome. Read More

J Hum Genet 2018 Aug 8;63(8):923-926. Epub 2018 Jun 8.

Department of Bone and Mineral Metabolism, Institute of Child Health, "Aghia Sophia" Children's Hospital, Athens, Greece.

Mutations in the gene encoding plastin-3, PLS3, have recently been associated to severe primary osteoporosis. The molecular function of plastin-3 is not fully understood. Since PLS3 is located on the X chromosome, males are usually more severely affected than females. Read More

Pediatr Int 2018 May 26;60(5):485-486. Epub 2018 Apr 26.

Department of Pediatrics, School of Medicine, Keio University, Tokyo, Japan.

J R Soc Interface 2018 Apr;15(141)

Julius Wolff Institute, Charité-Universitätsmedizin Berlin, Berlin, Germany

Sclerostin, a product of the gene, is a Wnt-inhibitor and thus negatively regulates bone accrual. Canonical Wnt/β-catenin signalling is also known to be activated in mechanotransduction. Sclerostin neutralizing antibodies are being tested in ongoing clinical trials to target osteoporosis and osteogenesis imperfecta but their interaction with mechanical stimuli on bone formation remains unclear. Read More

J Bone Miner Res 2018 Jul 18;33(7):1260-1271. Epub 2018 Apr 18.

Department of Pathology, University of Washington, Seattle, WA, USA.

Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by fractures, low bone mass, and skeletal fragility. It most commonly arises from dominantly inherited mutations in the genes COL1A1 and COL1A2 that encode the chains of type I collagen. A number of recent reports have suggested that mutations affecting the carboxyl-terminal propeptide cleavage site in the products of either COL1A1 or COL1A2 give rise to a form of OI characterized by unusually dense bones. Read More

J Bone Miner Res 2018 Aug 15;33(8):1489-1499. Epub 2018 Jun 15.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Excessive skeletal deformations and brittle fractures in the vast majority of patients suffering from osteogenesis imperfecta (OI) are a result of substantially reduced bone quality. Because the mechanical competence of bone is dependent on the tissue characteristics at small length scales, it is of crucial importance to assess how OI manifests at the micro- and nanoscale of bone. In this context, the Chihuahua (Chi/+) zebrafish, carrying a heterozygous glycine substitution in the α1 chain of collagen type I, has recently been proposed as a suitable animal model of classical dominant OI, showing skeletal deformities, altered mineralization patterns, and a smaller body size. Read More

Medicine (Baltimore) 2018 Apr;97(15):e0278

Institute of Medical Chemistry, Medical University of Vienna, Vienna, Austria.

Rationale: Progressive restriction of the spinal bio-mechanics is not-uncommon deformity encountered in spine clinics. Congenital spinal fusion as seen in Klippel-Feil-anomaly, progressive non-infectious anterior vertebral fusion, and progressive spinal hyperostosis secondary to ossification of the anterior longitudinal spinal ligament are well delineated and recognized.

Patient Concerns: A 24-year-old girl has history of osteoporosis since her early childhood, associated with multiple axial and appendicular fractures and scoliosis. Read More

J Hum Genet 2018 Jul 10;63(7):811-820. Epub 2018 Apr 10.

Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

We report a Thai father (patient 1) and his daughter (patient 2) affected with osteogenesis imperfecta type IV and dentinogenesis imperfecta. Both were heterozygous for the c.1451G>A (p. Read More

World Neurosurg 2018 Jul 5;115:24-28. Epub 2018 Apr 5.

Department of Neurosurgery, Osaka City University Graduate School of Medicine, Osaka, Japan.

Background: Trigeminal neuralgia is a rare feature of basilar impression, a complication of osteochondrodysplasic disorders. Microvascular decompression is difficult in medically refractory cases. Gamma knife radiosurgery (GKS) is effective for classical trigeminal neuralgia, and we first applied this GKS for a patient suffering from trigeminal neuralgia with basilar impression complicated by osteogenesis imperfecta. Read More

Int J Prosthodont 2018 Mar/Apr;31(2):138-141

This case history report describes the long-term prosthodontic treatment of a patient with gnathodiaphyseal dysplasia (GDD). The patient was initially diagnosed with osteomyelitis in the maxilla in 1986, followed by osteonecrosis spread throughout the mandible. GDD was genetically diagnosed in 2006. Read More

Med Biol Eng Comput 2018 Sep 26;56(9):1633-1643. Epub 2018 Feb 26.

Sheffield Hallam University, Sheffield, UK.

Vertebral fractures are common in children with osteogenesis imperfecta (OI). Current imaging methods for fracture detection (X-ray and DXA) use ionising radiation. This pilot study explored whether the alteration in blood flow in vertebral fractures results in skin temperature changes that may be detected using high resolution thermal imaging (HRTI) and thus assist diagnosis and monitoring of fractures in OI patients. Read More

J Clin Exp Dent 2017 Dec 1;9(12):e1482-e1486. Epub 2017 Dec 1.

MD, DMD, OMS, PhD. Head of the Service of Oral and Maxillofacial Surgery. Hospital de Nens de Barcelona. Barcelona. Spain. Director of Institut Ferrés Amat. Barcelona, Spain.

Osteogenesis Imperfecta (OI) is a rare autosomal dominant connective tissue disorder in wich, the bone quality and density is affected. OI includes some metabolic disorders and have a wide range of clinical presentations. In Osteogenesis Imperfecta bone has a very low density and it is a disorder currently treated with bisphosphonates. Read More

Mol Med Rep 2018 Mar 16;17(3):4433-4439. Epub 2018 Jan 16.

Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China.

Osteogenesis imperfecta (OI) is a rare congenital disorder characterized by bone fragility and fractures, and associated with bone deformity, short stature, dentin, ligament and blue‑gray eye sclera. OI is caused by a heterozygous mutation in collagen α‑1(I) chain (COL1A1) or collagen α‑2(I) chain (COL1A2) genes that encode α chains of type I collagen. Collagen α chain peptide contains an N‑propeptide, which has a role in assembly and processing of collagen. Read More

Ann N Y Acad Sci 2017 12;1410(1):93-106

Mineralized Tissue Laboratory, Hospital for Special Surgery, New York, New York.

Bone quality encompasses all the characteristics of bone that, in addition to density, contribute to its resistance to fracture. In this review, we consider changes in architecture, porosity, and composition, including collagen structure, mineral composition, and crystal size. These factors all are known to vary with tissue and animal ages, and health status. Read More

G Ital Nefrol 2017 Dec 5;34(Nov-Dec). Epub 2017 Dec 5.

Department of Medicine, Section of Internal Medicine D, University of Verona, Italy.

Histomorphometry or quantitative histology is the analysis on histologic sections of bone resorption, formation and structure parameters. It is the only technique allowing a dynamic evaluation of osteoblast activity after labelling with tetracycline. In addition, the use of computed image analyzer allows the possibility to assess bone microarchitecture. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Dec;34(6):797-801

Department of Laboratory Medicine, Department of Radiology, Tianjin Hospital, Tianjin 300211, China. Email:

Objective: To explore genetic mutations and clinical features of osteogenesis imperfecta type V.

Methods: Clinical record of five patients (including one familial case) with osteogenesis imperfecta type V were retrospectively analyzed. Peripheral blood samples of the patients, one family member, as well as healthy controls were collected. Read More

Proc SPIE Int Soc Opt Eng 2017 Mar;10134

Departments of Biomedical Engineering & Imaging Sciences, University of Rochester, NY, United States.

Few studies have analyzed the microstructural properties of bone in cases of Osteogenenis Imperfecta (OI), or 'brittle bone disease'. Current approaches mainly focus on bone mineral density measurements as an indirect indicator of bone strength and quality. It has been shown that bone strength would depend not only on composition but also structural organization. Read More

Cell Rep 2017 Nov;21(9):2585-2596

Department of Orthopaedic Surgery, University of California, San Francisco, San Francisco, CA 94143, USA; UC Berkeley/UCSF Graduate Program in Bioengineering, San Francisco, CA 94143, USA. Electronic address:

Poor bone quality contributes to bone fragility in diabetes, aging, and osteogenesis imperfecta. However, the mechanisms controlling bone quality are not well understood, contributing to the current lack of strategies to diagnose or treat bone quality deficits. Transforming growth factor beta (TGF-β) signaling is a crucial mechanism known to regulate the material quality of bone, but its cellular target in this regulation is unknown. Read More

Bone 2018 02 22;107:131-142. Epub 2017 Nov 22.

Shriners Hospitals for Children - Canada, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Injury Repair and Recovery Program, McGill University Health Centre Research Institute, Montreal, Quebec, Canada. Electronic address:

Osteogenesis imperfecta (OI) type V is caused by an autosomal dominant mutation in the IFITM5 gene, also known as BRIL. The c.-14C>T mutation in the 5'UTR of BRIL creates a novel translational start site adding 5 residues (MALEP) in frame with the natural coding of BRIL. Read More

Br J Oral Maxillofac Surg 2017 Nov 14;55(9):971-973. Epub 2017 Oct 14.

Department of Oral and Maxillofacial Surgery, College of Dentistry, Dankook University, 119 Dandae-ro, Dongnam-gu, Cheonan, South Korea. Electronic address:

To the best of our knowledge, this is the first report to discuss the possible mechanisms of an iatrogenic fracture during operation on an original mandibular fracture in a patient with osteogenesis imperfecta. Read More

J Biomech 2017 11 14;64:103-111. Epub 2017 Sep 14.

Orthopaedic and Rehabilitation Engineering Center (OREC), Department of Biomedical Engineering, Marquette University, United States; Shriners Hospitals for Children - Chicago, United States. Electronic address:

Children with severe osteogenesis imperfecta (OI) typically experience numerous fractures and progressive skeletal deformities over their lifetime. Recent studies proposed finite element models to assess fracture risk and guide clinicians in determining appropriate intervention in children with OI, but lack of appropriate material property inputs remains a challenge. This study aimed to characterize macroscopic anisotropic cortical bone material properties and investigate relationships with bone density measures in children with severe OI. Read More

Medicine (Baltimore) 2017 Sep;96(39):e7783

aDepartment of Pain Management bDepartment of Pediatrics, Jinan cLinyi County Traditional Chinese Medicine Hospital, Dezhou dDepartment of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong University eInstitute of Endocrinology, Shandong Academy of Clinical Medicine fShandong Clinical Medical Center of Endocrinology and Metabolism, Jinan, Shandong, China.

Mutation analysis as the gold standard is particularly important in diagnosis of osteogenesis imperfecta (OI) and it may be preventable upon early diagnosis. In this study, we aimed to analyze the clinical and genetic materials of an OI pedigree as well as to confirm the deleterious property of the mutation.A pedigree with OI was identified. Read More

Osteoporos Int 2018 01 15;29(1):243-246. Epub 2017 Sep 15.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529, Hamburg, Germany.

Osteogenesis imperfecta (OI) is typically characterized by low bone mass and increased bone fragility caused by heterozygous mutations in the type I procollagen genes (COL1A1/COL1A2). We report two cases of a 56-year-old woman and her 80-year-old mother who suffered from multiple vertebral and non-vertebral fractures with onset in early childhood. A full osteologic assessment including dual-energy X-ray absorptiometry (DXA), high-resolution peripheral quantitative computed tomography (HR-pQCT), and serum analyses pointed to a high bone mineral density (BMD) in the hip (DXA Z-score + 3. Read More

J Pediatr Orthop 2017 Sep 8. Epub 2017 Sep 8.

Department of Orthopaedics.

Background: Evaluation of the union of osteotomies and fractures in patients with osteogenesis imperfecta (OI) is a critical component of patient care. Studies of the OI patient population have so far used varied criteria to evaluate bony union. The radiographic union score for tibial fractures (RUST), which was subsequently revised to the modified RUST, is an objective standardized method of evaluating fracture healing. Read More

Drug Des Devel Ther 2017 28;11:2507-2515. Epub 2017 Aug 28.

First Department of Pediatrics.

Osteogenesis imperfecta (OI) is a genetic disease characterized by excessive bone fragility with fractures consecutive to minor trauma. Considering lack of standardization of therapy with pamidronate in children, it was our aim to present our experience over a period of 10 years regarding evolution and treatment in patients diagnosed with osteoporosis and OI. Nine patients diagnosed with OI were admitted to the First Pediatric Clinic, Timisoara. Read More

Injury 2017 Nov 1;48(11):2515-2521. Epub 2017 Sep 1.

Department of Orthopaedic Surgery, Texas Children's Hospital, Houston, TX, USA.

Background: Intact knee extensor mechanism is required for the normal function of the lower extremity. Patellar tendon rupture is a relatively rare injury with peak age incidence around 40 years and usually occurs midsubstance. The occurrence of pure patellar tendon rupture without bony avulsion is an extremely rare injury in the pediatric population with few cases reported in the literature with limited information regarding frequency, complications, and outcomes in children. Read More

Spine Deform 2017 09;5(5):360-365

Spine Surgery Service, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, CABA, Buenos Aires, Argentina.

Study Design: Retrospective study.

Objective: To assess results of posterior instrumented fusion using pedicle screws in 12 children with osteogenesis imperfecta (OI) with spinal deformity at a single institution from 2001 to 2012.

Summary Of Background Data: This is the first case series of OI patients who underwent non-cement augmented screw-rod instrumented fusion published in the literature. Read More

Clin Dysmorphol 2017 Oct;26(4):243-246

aDevelopmental Endocrinology Research Group, Child Health, School of Medicine, University of Glasgow, Royal Hospital for Children bWest of Scotland Genetics Service, Laboratory Medicine Building, Queen Elizabeth Hospitals, Glasgow cSheffield Diagnostics Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, UK.

Osteoporos Int 2017 11 2;28(11):3277-3280. Epub 2017 Sep 2.

Department of Pediatrics, "Sapienza" University of Rome, Viale Regina Elena, 324, 00324, Rome, Italy.

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive syndrome characterized by juvenile-onset osteoporosis and ocular abnormalities due to a low-density lipoprotein receptor-related protein 5 (LRP5) gene mutation. Treatment with bisphosphonates, particularly with pamidronate and risedronate, has been reported to be of some efficacy in this condition. We report on a patient with OPPG due to an LRP5 gene mutation, who showed an encouraging response after a 36-month period of neridronate therapy. Read More

Medicine (Baltimore) 2017 Sep;96(35):e7863

aLudwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital bOrthopedic Hospital of Speising, Pediatric Department, Vienna, Austria cIbn Zohr Institute of Radiology and Imaging studies, Tunis, Tunisia dPediatric Orthopedic Surgery, Children's Hospital of Tunis, Tunis, Tunisia eDepartment of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Pediatric Orthopedic Institute n.a. H. Turner, Saint Petersburg, Russia fAxial Skeleton and Neurosurgery Department, Restorative Traumatology and Orthopaedics, Ilizarov Center, Kurgan, Russia gInstitute of Medical Chemistry, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria.

Rationale: The term idiopathic osteoporosis itself is quite a non-specific disease label, which fails to address the etiological understanding. Bone mineral density alone is not a reliable parameter to detect patients at high risk of fracture. The diversity of the clinical phenotypes of discolored teeth, blueness of the sclera, back and joint pain, cardiovascular disease, Diabetes type II, hearing problems and a long list of orthopedic problems are have to be considered. Read More

Methods Mol Biol 2017 ;1627:429-451

Laboratory for Optical and Computational Instrumentation, University of Wisconsin, Madison, WI, USA.

Recent evidence has implicated collagen, particularly fibrillar collagen, in a number of diseases ranging from osteogenesis imperfecta and asthma to breast and ovarian cancer. A key property of collagen that has been correlated with disease has been the alignment of collagen fibers. Collagen can be visualized using a variety of imaging techniques including second-harmonic generation (SHG) microscopy, polarized light microscopy, and staining with dyes or antibodies. Read More

World Neurosurg 2017 Nov 18;107:1049.e1-1049.e7. Epub 2017 Aug 18.

Department of Pharmaceutics and Pharmaceutical Chemistry, University of Utah, Salt Lake City, Utah, USA; Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, California, USA. Electronic address:

Background: The techniques and applications of 3-dimensional (3D) printing have progressed at a fast pace. In the last 10 years, there has been significant progress in applying this technology to medical applications. We present a case of osteogenesis imperfecta in which treatment was aided by prospectively using patient-specific, anatomically accurate 3D prints of the calvaria. Read More

Curr Osteoporos Rep 2017 10;15(5):419-424

Provinical Medical Genetics Program, BC Women's Hospital and Health Centre, University of British Columbia, 4500 Oak Street, Vancouver, BC, V6H 3N1, Canada.

Purpose Of Review: This review highlights how skeletal dysplasias are diagnosed and how our understanding of some of these conditions has now translated to treatment options.

Recent Findings: The use of multigene panels, using next-generation sequence technology, has improved our ability to quickly identify the genetic etiology, which can impact management. There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those with achondroplasia. Read More

J Assoc Physicians India 2017 Aug;65(8):103-105

Associate Professor, Government Medical College, Kota, Rajasthan.

Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders that occur owing to the abnormalities in type 1 collagen, and is characterized by increased bone fragility and other extraskeletal manifestations. OI may be associated with vascular complications such as aortic and cervical artery dissection, carotid cavernous fistula, and coronary artery aneurysms but unlike other connective tissue diseases, the cerebrovascular system is less frequently involved. We report rare case of 50 year female patient who was diagnosed with OI following right frontal haemorrhage secondary to a ruptured middle cerebral artery mirror aneurysm. Read More

Case Rep Neurol Med 2017 2;2017:8520961. Epub 2017 Jul 2.

Neurology Department, Bezmialem Vakıf University, İstanbul, Turkey.

A 40-year-old male with osteogenesis imperfecta (OI) was admitted to the hospital with an acute right monoparesis. Diffusion-weighted MRI showed infarction in the territory of the left anterior cerebral artery (ACA) and in the left posterior cerebral artery (PCA). In his vascular imaging, occlusion of the left vertebral artery (VA) starting from V2 segment was consistent with dissection and pseudoaneurysm in the right ACA. Read More

Osteoporos Int 2017 10 26;28(10):3023-3032. Epub 2017 Jul 26.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

Altogether 95 children with primary bone fragility were screened for variants in PLS3, the gene underlying X-linked osteoporosis. Two children with multiple peripheral and spinal fractures and low BMD had novel disease-causing PLS3 variants. Children with milder phenotypes had no pathogenic variants. Read More