COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: A new cause of gnathodiaphyseal dysplasia?

Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant condition characterized by bone fragility, irregular bone mineral density (BMD) and fibro-osseous lesions in the skull and jaw. Mutations in Anoctamin-5 (ANO5) have been identified in some cases. We aimed to identify the causative mutation in a family with features of GDD but no mutation in ANO5, using whole exome capture and massive parallel sequencing (WES). WES of two affected individuals (a mother and son) and the mother's unaffected parents identified a mutation in the C-propeptide cleavage site of COL1A1. Similar mutations have been reported in individuals with osteogenesis imperfecta (OI) and paradoxically increased BMD. C-propeptide cleavage site mutations in COL1A1 may not only cause 'high bone mass OI', but also the clinical features of GDD, specifically irregular sclerotic BMD and fibro-osseous lesions in the skull and jaw. GDD patients negative for ANO5 mutations should be assessed for mutations in type I collagen C-propeptide cleavage sites.

Garré's osteomyelitis: a case report.

This is a case report of Garré's osteomyelitis caused by infection from a lower left molar which was successfully managed by root treatment following several unsuccessful attempts with antibiotic therapy alone. After 18 months there was complete resolution of the bony lesion.

The glandular odontogenic cyst: a case report.

A case of a glandular odontogenic cyst is reported. All clinical, radiographic, and histopathologic features are discussed and compared with the descriptions in the literature already published about this new lesion.

Albright's syndrome: review of the literature and case report.

Albright's syndrome is characterized by the presence of polyostotic fibrous dysplasia, endocrinopathies and brown spots on the skin. In the present article the authors describe a case occurring in a 20-year-old female patient, who is currently being followed radiographically after a mandibular bone biopsy.

Garre's osteomyelitis associated with a fistula: a case report.

A report of Garre's osteomyelitis of the mandible associated with a fistula is presented. Elimination of pulpal periapical infection through endodontic therapy was shown to be an effective treatment. The total bone healing was observed one year later.

Effects of simvastatin on bone regeneration in the mandibles of ovariectomized rats and on blood cholesterol levels.

The purpose of this study was to evaluate the effects of simvastatin on guided bone regeneration in the mandibles of ovariectomized rats, and to observe their blood cholesterol levels. Seventy female rats were divided into two groups: control and treated, both groups containing normal and ovariectomized rats. A month after ovariectomy a bone defect was created in the mandible, and was covered by a polytetrafluoroethylene membrane. The treated groups received simvastatin orally for 15 or 30 days. The rats were sacrificed 15, 30 or 60 days after surgery, at which time a blood sample was extracted for blood cholesterol level analysis and the mandible was extracted for densitometric, histological and morphometric analysis. All specimens underwent analysis of variance. The ovariectomized animals had higher cholesterol levels than the treated normal animals, and no significant difference was found between the different treatment periods and the sacrifice times. The densitometric, histological and morphometric analysis showed that the treated ovariectomized animals developed more new bone than the control ovariectomized rats, but no significant difference was observed between the treatment periods. It can be concluded that the deficiency of estrogen increased the level of blood cholesterol and that the simvastatin aided new bone formation in the ovariectomized animals.

Familial malignant osteopetrosis in children: A case report

The clinical, radiological, pathological and laboratory findings of two brothers with autosomal recessive malignant osteopetrosis are presented. Our findings are similar to characteristics previously reported in the literature about patients with osteopetrosis. The 6-year-old male patient was pale and had petechiae on his arms and legs. He also had macrocephalia, splenomegaly, severe pancytopenia, genu valgus, hypocalcemia, amaurosis, cessation of physical development, generalized bone sclerosis and recurrent infections with a history of multiple incidences of acute otitis media. Generalized bone sclerosis and irregular sclerosis of the maxilla and mandible were seen on radiographs. The oral mucosa was apparently normal but permanent tooth eruption was delayed although there was early loss of deciduous teeth. The recommended treatment was blood transfusion and therapy with antibiotics when necessary; a bone marrow transplant was not possible due to lack of a compatible donor.

A new device in immediately loaded implant treatment in the edentulous mandible

Purpose: This article reports preliminary clinical results of the Speed Master system, a method for immediate loading of implants for the treatment of mandibular edentulism. Materials and Methods: Fifteen patients with edentulous mandibles were consecutively included in the study. Each received 4 implants between the mental foramina placed using the system's surgical guides. Permanent fixed prostheses fabricated over premanufactured titanium bars were attached to the implants on the day of implant placement. The patients were followed for 15 to 27 months (mean, 19 months). Peri-implant tissues were periodically evaluated. Marginal bone loss was monitored with periapical radiographs using a computerized technique. Satisfaction was assessed by means of a questionnaire. Results: The overall implant and prosthetic survival rates were 100%. At the time of the final follow-up visit, mean marginal bone loss was 1.11 mm, and bleeding on probing was not observed. Only 6.7% of the patients reported any discomfort during treatment, and all patients would recommend the procedure to others. Discussion: The immediate loading of implants placed in the edentulous mandible with the Speed Master surgical and prosthetic protocol reduces treatment time and number of surgical procedures in comparison to classic delayed loading protocols. Conclusion: The rehabilitation of the mandible with an immediately delivered occlusally loaded hybrid prosthesis supported by 4 implants does not appear to jeopardize the success of the osseointegration and represents a viable treatment option.

Prosthetic rehabilitation of a bone defect with a teeth-implant supported, removable partial denture

The use of teeth-implant, mucosa-supported removable dentures for rehabilitation of partially edentulous patients involves highly complex biomechanical aspects. This type of prosthesis associates 3 kinds of support that react differently to the functional and parafunctional forces developed in the oral cavity. Although the construction of removable partial dentures may seem paradoxical when osseointegrated implants are placed, in some cases, this option is an excellent alternative to solve difficulties related to the anatomic, biologic, psychomotor, and financial conditions of the patient. This article reports on a case in which a teeth-implant, mucosa-supported removable partial denture was the option of choice for a patient with financial and anatomic limitations, having a large structural loss of the residual alveolar ridge caused by trauma by a gunshot injury at the mandible. The 5-year follow-up did not reveal any type of biomechanical or functional problem. Copyright © 2006 by Lippincott Williams and Wilkins.

Electromyographic evaluation of masseter and anterior temporalis muscles in resting position and during maximum tooth clenching of edentulous patients before and after new complete dentures.

The aim of this study was to assess the electrical activity of the masseter and anterior temporal muscles in patients with severe bone resorption, with complete dentures worn for over ten years, and five months after having new dentures put in place. The RDC questionnaire was applied to twelve asymptomatic patients, before and five months after new dentures were put in place. The electrical activity recordings were made in the mandibular position at rest, and during maximum tooth clenching. The electrical activity of the masseter and anterior temporal muscles in the position at rest presented no statistically significant difference after five months of wearing the new complete dentures. Electrical activity during tooth clenching exhibited a statistically significant reduction only in the right temporal muscle. A period longer than five months of wearing the new complete dentures is required for adaptation and the acquisition of functional capacity.

Excision of an atypical case of palatal bone exostosis: a case report.

Bone exostosis has long been described in the literature, appearing in most cases as a torus palatinus or mandibularis. These two variations are relatively common and affect approximately 30% of the world's population. Incidence is even higher when human skulls are examined post mortem, indicating that in some cases the exostosis is small and cannot be seen under the soft tissue. Removal of an exostosis is usually associated with the construction of a prothesis, but in rare cases such as the present, the lesion enlarges enough to affect speech and feeding. Few studies have reported the removal of such a large exostosis, and all were conducted in a hospital environment. In this case, complete removal was successfully conducted in an ambulatory clinic under local anesthesia.

Rehabilitation with zygomatic implants: a treatment option for the atrophic edentulous maxilla--9-year follow-up.

This article reports the 9-year clinical outcome of the two-stage surgical rehabilitation of a severely atrophic edentulous maxilla with a metal-resin fixed denture supported by implants anchored in the zygomatic bone and the maxilla. After clinical and radiographic examination, zygomatic implants were inserted bilaterally and four standard implants were placed in the anterior region of the maxilla. Six months later, the implants were loaded with a provisional acrylic resin denture, and the definitive implant-supported metal-resin fixed denture was provided 1 year after implant placement. After 9 years of follow-up, no painful symptoms, peri-implant inflammation or infection, implant instability, or bone resorption was observed. In the present case, the rehabilitation of severe maxillary atrophy using the zygomatic bone as a site for implant anchorage provided good long-term functional and esthetic results. Therefore, with proper case selection, correct indication, and knowledge of the surgical technique, the use of zygomatic implants associated with standard implants offers advantages in the rehabilitation of severely resorbed maxillae, especially in areas with inadequate bone quality and volume, without needing an additional bone grafting surgery, thereby shortening or avoiding hospital stay and reducing surgical morbidity.

Cherubism: Clinical case and genetic standpoints

Cherubism is a rare non-neoplastic hereditary disease, characterized by bilateral bone enlargement of the jaws and is accompanied by inflammation and fibrosis in childhood. An increase in jaw size is noted, with maximum enlargement occurring within 2 years of onset in most cases. By age 7, the lesions become static or progress relatively slowly until puberty. During the late teens, the disease may undergo spontaneous involution. The present case show a patient with history of bilateral enlargement of the jaw with the triad of clinical, histological and radiological findings that helps in the final diagnosis of cherubism.

Marginal resection for treatment of mandibular osteomyelitis associated with osteopetrosis: Case report

Osteopetrosis (OP) is a rare hereditary disorder characterized by a dysfunction of the osteoclasts that impairs bone resorption, which together with the normal osteoblastic activity forms intense bone sclerosis with reduction of marrow. A common complication that arises, most frequently, as a result of tooth extraction is mandibular osteomyelitis. There is no consensus on the literature about the treatment of this infection in an osteopetrotic patient, therefore, the purpose of this paper is to report a case of marginal resection for treatment of mandibular osteomyelitis in an osteopetrotic patient and discuss relevant features of this procedure. © 2010 European Association for Cranio-Maxillo-Facial Surgery.

Electromyographic analysis of masseter and anterior temporalis muscle in sleep bruxers after occlusal splint wearing

Bruxism is widely defined as an anxiety response to environmental stress. Occlusal splints are frequently used in sleep bruxism, to protect teeth from damage resulting from the contraction force of mandibular muscles, or to reduce the orofacial pain by relaxing masticatory muscles. Surface electromyography (EMG) of the right and left masseter and temporalis muscles was performed in 15 women presenting sleep bruxism and temporomandibular disorders related to occupational stress, after nocturnal use of the occlusal splint. The EMG signals were recorded twice per patient: After a work shift (pre-splint) and after a night of sleep with the occlusal splint (post-splint) before a new workday. The parametric t-paired test was used to compare differences of the RMS amplitude between pre and post-splint records, for resting and maximal clenching effort. The level of significance for each comparison was set to p < 0.05. The results of the study supports the premise that the use of occlusal splint reduces EMG activity in the masseter and anterior temporalis muscles, in patients who presented with sleep bruxism related to occupational stress. © 2011 Elsevier Ltd.