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Mass spectrometric gene diagnosis of one-base substitution from polymerase chain reaction amplified human DNA.

One-base substitution has been detected on the polymerase chain reaction (PCR) products amplified from human mutated DNA for the first time by using mass spectrometry. PCR fragments of 52 base pairs were produced on a collagen gene of an osteogenesis imperfecta patient's heterozygous DNAs. The products were digested with EcoRI restriction enzyme to liberate 3'-end adducts and purified by phenol + chloroform extraction, ammonium acetate addition and ethanol precipitation to remove sodium ions from the phosphoric acid backbone of the DNAs. Purified products were examined using an electrospray io…

Unusual forms of collagen in human dentin.

Unusual fibrillar and segmental forms of collagen have been documented in several tissues, including rodent dentin - but not human dentin, w … ped aggregates. Two deciduous incisors from patients with dentinogenesis imperfecta associated with osteogenesis imperfecta were also studied. SCSs were not observed, but fibrous long-spacing-like collagen was rarely found intratubularly in one tooth.

Corrosion of a Fassier-Duval Telescopic Nail Causing Pain and Osteolysis: A Case Report.

CASE: A 15-year-old girl known with osteogenesis imperfecta presented with left femoral pain. She had been treated with multiple Fassier-Duval intramedullary nails, which were still in situ. Radiographic imaging demonstrated focal osteolysis and periosteal reaction at the telescopic junction of the rod in the distal femur. She underwent implant removal. Intraoperative sampling demonstrating acute sterile inflammation and presence of brownish colored particles consistent with metal debris and osteolysis. Explant analysis confirmed corrosion of the stainless-steel telescopic nail as the underlyi…

Posterior vault "free-floating" bone flap: indications, technique, advantages, and drawbacks.

BACKGROUND: The enlargement of the posterior cranial fossa volume is considered one of the main steps of the surgical management of children with multiple sutures craniosynostosis. Different management options have been proposed including fixed expansive craniotomy, free bone flap craniotomy, and distraction osteogenesis. OBJECTIVES: To review indications to "free bone flap" craniotomy for the posterior fossa expansion, detailing advantages, disadvantages, and complications related to the technique. RESULTS AND CONCLUSIONS: A review of the literature shows that "free bone flap" posterior exp…

[Homeostasis and Disorder of Musculoskeletal System.Diagnosis and Treatment of Congenital Musculoskeletal Diseases.].

Congenital skeletal dysplasias have been considered to be fundamentally untreatable diseases. However, molecular diagnosis by genetic testing has become more prevalent, and efforts are being made to develop novel therapies based on the pathogenesis. As treatments for osteogenesis imperfecta, in addition to anti-resorptive agents, neutralizing antibodies against sclerostin and transforming growth factor(TGF)-β and chemical chaperones can be beneficial. Enzyme replacement therapy using bone-targeting recombinant alkaline phosphatase has been recently developed to treat hypophosphatasia and has m…

Complete Resolution of Papilledema in Syndromic Craniosynostosis with Posterior Cranial Vault Distraction.

We report a case of surgical management of Crouzon syndrome with multisuture craniosynostosis presenting with increased intracranial pressure (ICP) manifesting with chronic papilledema without ventriculomegaly. A 12-month-old boy had complete resolution of papilledema after posterior cranial vault distraction followed by staged fronto-orbital advancement. Expansion of the cranial vault with posterior distraction osteogenesis posed an elegant treatment, obviating ventriculoperitoneal shunt placement for cerebrospinal fluid (CSF) diversion. Strategies for the management of elevated ICP without v…

[Pharmacological treatment of other types of secondary osteoporosis].

This article reviews the treatment strategy for the secondary osteoporosis excluding those caused by diabetes, CKD, endocrine disorders, or glucocorticoid, which proceeding articles deal with. Among numerous possible causes for such secondary osteoporosis, the author has selected osteogenesis imperfecta (OI), osteoporosis associated with gastrectomy or bariatric surgery, inflammatory bowel diseases (IBD), and chronic obstructive pulmonary disease (COPD). For OI, current standard treatment is bisphosphonates (BPs), of which efficacy for fracture inhibition has recently been of issue. Other trea…

Peripheral ossifying fibroma in the maxillary arch.

Many types of localized reactive lesions may occur on the gingiva, including focal fibrous hyperplasia, pyogenic granuloma, peripheral giant cell granuloma and peripheral ossifying fibroma. Peripheral ossifying fibroma is a gingival growth, usually arising from interdental papilla and represents up to 2% of all lesions that are biopsied. Other terms used to describe this lesion include peripheral cementifying fibroma, peripheral fibroma with cementogenesis, peripheral fibroma with osteogenesis, peripheral fibroma with calcification, calcified or ossified fibrous epulis and calcified fibroblast…

[Surgical management of hemifacial microsomia: a report of 24 cases].

OBJECTIVE: To investigate the therapeutic effect of combined treatment for hemifacial microsomia (HFM). METHODS: From July 1991 to August 2006, 24 consecutive patients with HFM were retrospectively analyzed. They underwent orthognathic surgery, free flap transplantation, Medpor implant, distraction osteogenesis. The patients age, deformity type, surgical timing, treatment methods and complications were analyzed. RESULTS: The treatment was completed in all the patients. The facial symmetry was improved dramatically after operation. The occlusion relationship was improved also with good occlus…

Advances in craniofacial surgery.

The past 10 years have witnessed many advances in craniofacial surgery. Advances in surgical techniques, such as distraction osteogenesis and endoscopic procedures, combined with refinements in surgical equipment, such as resorbable plating and distractors, have improved surgical outcomes, while minimizing morbidity. Technological advances in 3-dimensional imaging, computer simulation, and intraoperative navigation facilitate diagnosis, preoperative planning, and surgical execution. Rising cases of deformational plagiocephaly owing to increased supine infant sleep positioning necessitated the …

Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1.

We have studied a family with autosomal dominant osteogenesis imperfecta (OI) type IV. Electrophoresis of collagen produced by cultured fibroblasts revealed a slower migrating population of collagen I. Cyanogen bromide peptide mapping localised the structural defect to the area of the alpha 1(1)CB3 peptide. Subsequent sequencing revealed a deletion of nucleotides 1964-1966 in exon 27 of COL1A1. By means of restriction enzyme analysis, the deletion could be detected in all affected family members. This in-frame deletion resulted in the removal of alanine-438 and Glu437Asp substitution in the pr…

Haplotype frequencies of the collagen type-I genes in the Italian population.

We have determined the frequencies of six restriction fragment length polymorphisms (RFLPs) of type-I collagen genes in a random sample of 1 … the English population, making them better markers for the analysis of Italian families affected by osteogenesis imperfecta and some other inherited collagen diseases.

The osteoporosis pseudoglioma syndrome. Update and report on two affected siblings.

Two siblings (male, 29 years, and female, 13 years) with the rate autosomal recessive osteoporosis pseudoglioma syndrome are reported in detail. All essential signs and symptoms of the full clinical picture were present and are documented by impressive X-ray pictures. Some aspects of our patients are compared with relevant findings of previous reports. Collagen studies (skin biopsies) failed to reveal any significant disorder of the main collagen types composition. Striking similarities with established genetic disorders of collagen (like the osteogenesis imperfecta group and the Ehlers-Danlos…

Intercalary reconstructions after bone tumor resections: a review of treatments.

An intercalary reconstruction is defined as replacement of the diaphyseal portion of a long bone after segmental skeletal resection (diaphys … , extracorporeal devitalized autograft, and segmental transport using the principles of distraction osteogenesis. This article aims to review the indications, techniques, limitations, pros and cons, and complications of the aforementioned methods of intercalary bone tumor resections and reconstructions in the context of the ever-growing, brave new field of lim …

Contemporary surgical management of hypodontia.

Hypodontia is the term most commonly applied to the condition in which teeth congenitally fail to develop. Such cases differ from teeth that … augmentation of bone before placement of an implant, but may include techniques such as distraction osteogenesis and orthognathic surgery. These patients are best managed by a multidisciplinary team, and in this review our aim has been to describe the role of oral and maxillofacial surgeons within it.

Генетически модифицированные с помощью адБМП2/АдБМП7 для регенерации переломов костей в ариах Овиса.

Мезенхимические стволовые клетки (ADMCs) получают остеогенный фенотип из костных морфогенетических белков (BMP). Это облегчает образование имплантатов для регенерации костной ткани. В ходе этого исследования была проведена оценка in vitro osteogenal дифференциала ДСВЦ, преобразуемых в индивидуальном порядке и в сочетании с аденовальными векторами, выражающими БМП2 и БМП7. Кроме того, эффективность имплантата, содержащего АДМЧС, полученная с помощью аденовальных векторов AdBMP2/ADBMP7 и встроенная в деминерализованную матрицу костей (DBM), была испытана на модели перелома голени у овец. Этот тр

Совпадение в аннотации оригинала
Adipose-derived mesenchymal stem cells (ADMSCs) are inducible to an osteogenic phenotype by the bone morphogenetic proteins (BMPs). This fac … edded in the same matrix and with injured but untreated animals. In vivo results showed accelerated osteogenesis in the group treated with the AdBMP2/AdBMP7 transduced ADMSC graft, which also showed improved restoration of the normal bone morphology.

The bone-fat interface: basic and clinical implications of marrow adiposity.

Obesity and osteoporosis are two of the most common chronic disorders of the 21st century. Both are accompanied by significant morbidity. Th … mplex and might play very distinct parts in modulation of metabolic homoeostasis, haemopoiesis, and osteogenesis. Understanding of the relationship between bone and fat cells that arise from the same progenitor within the bone marrow niche provides insight into the pathophysiology of age-related osteoporosis, diabetes, and obesity.

Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.

Bruck syndrome (BS) is an extremely rare form of osteogenesis imperfecta characterized by congenital joint contracture, multiple fractures and short stature. We described the phenotypes of BS in two Chinese patients for the first time. The novel compound heterozygous mutations c.764_772dupACGTCCTCC (p.255_257dupHisValLeu) in exon 5 and c.1405G>T (p.Gly469X) in exon 9 of FKBP10 were identified in one proband. The novel compound heterozygous mutations c.1624delT (p.Tyr542Thrfs*18) in exon 14 and c.1880T>C (p.Val627Ala) in exon 17 of PLOD2 were identified in another probrand. Intravenous zoledron…

PLS3 mutations in X-linked osteoporosis with fractures.

Plastin 3 (PLS3), a protein involved in the formation of filamentous actin (F-actin) bundles, appears to be important in human bone health, on the basis of pathogenic variants in PLS3 in five families with X-linked osteoporosis and osteoporotic fractures that we report here. The bone-regulatory properties of PLS3 were supported by in vivo analyses in zebrafish. Furthermore, in an additional five families (described in less detail) referred for diagnosis or ruling out of osteogenesis imperfecta type I, a rare variant (rs140121121) in PLS3 was found. This variant was also associated with a risk …

Facial nerve paralysis and frey syndrome in an infant following removal of an internal mandibular distraction device.

Mandibular distraction using an implantable device has become a widely accepted and utilized procedure for the treatment of retrognathia. Although excellent results have been reported and observed with distraction osteogenesis, complications such as facial nerve injury have been previously reported. Often, this injury is usually temporary and corrects over the course of time. Frey syndrome has been classically described as an injury or severance of the auricotemporal branch of the trigeminal nerve. It is commonly seen as a complication of parotid surgery and has never been reported in associat…