Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations

Functional limitations for the vitamin K cycle, caused either by mutations in gamma-glutamyl carboxylase or vitamin K epoxide reductase genes, result in hereditary deficiency of vitamin K-dependent coagulation factors (VKCFD1 and VKCFD2, respectively). Patients suffering from VKCFD often share several other anatomical irregularities which are not related to haemostasis. Here we report on nine patients, eight of them previously unreported, who presented with VKCFD1. All were examined with special attention to vitamin K-dependent coagulation factors as well as to bone and heart development and to other anatomical signs of embryonal vitamin K deficiency. In total, we detected ten mutations in the gamma-glutamyl carboxylase gene of which seven have not been previously reported. Most interestingly, additional non-bleeding phenotypes were observed in all patients including midfacial hypoplasia, premature osteoporosis, cochlear hearing loss, heart valve defects, pulmonary stenosis, or pseudoxanthoma elasticum-like phenotype. Undercarboxylated matrix Gla protein, osteocalcin, and periostin appear to be responsible for these defects which are also observed in cases of fetal warfarin syndrome.     

Global physical activity levels: surveillance progress, pitfalls, and prospects

To implement effective non-communicable disease prevention programmes, policy makers need data for physical activity levels and trends. In this report, we describe physical activity levels worldwide with data for adults (15 years or older) from 122 countries and for adolescents (13-15-years-old) from 105 countries. Worldwide, 31·1% (95% CI 30·9-31·2) of adults are physically inactive, with proportions ranging from 17·0% (16·8-17·2) in southeast Asia to about 43% in the Americas and the eastern Mediterranean. Inactivity rises with age, is higher in women than in men, and is increased in high-income countries. The proportion of 13-15-year-olds doing fewer than 60 min of physical activity of moderate to vigorous intensity per day is 80·3% (80·1-80·5); boys are more active than are girls. Continued improvement in monitoring of physical activity would help to guide development of policies and programmes to increase activity levels and to reduce the burden of non-communicable diseases.     

Flabby ridge correction using an auxiliary technique with connective tissue graft

A common finding in patients with edentulous maxilla and partially dentate mandible is mainly the presence of flabbiness in the anterior edentulous alveolar ridge that can compromise the retention and stability of a denture. Thus, this case report presents the correction of a flabby ridge, using an auxiliary technique combining surgical excision and autogenous connective tissue grafting. The technique improved the quality of the osteomucosal support of the alveolar ridge and increased the vestibule deepness, whose result increased the success rate of the new conventional total prosthesis.     

Functional aesthetic treatment of patient with phenytoin-induced gingival overgrowth

Gingival overgrowth (GO) may be related to the frequent use of certain medications, such as cyclosporin, phenytoin (PHT), and nifedipine, and is therefore denominated drug-induced GO. This article reports a case of a patient who with chronic periodontitis made use of PHT and presented generalized GO. A 30-year-old man with GO was referred to the clinic of the Universidade Estadual Paulista, Brazil. The complaint was poor aesthetics because of the GO. The patient had a medical history of a controlled epileptic state, and PHT was administered as an anticonvulsant medication. The clinical examination showed generalized edematous gingival tissues and presence of bacterial plaque and calculus on the surfaces of the teeth. The diagnosis was GO associated with PHT because no other risk factors were identified. Treatment consisted of meticulous oral hygiene instruction, scaling, root surface instrumentation, prophylaxis, and daily chlorhexidine mouth rinses. After this stage, periodontal surgery was performed, and histopathologic evaluation was made. The patient has been under control for 3 years after the periodontal surgery, and up to the present time, there has been no recurrence. It can be concluded that PHT associated with the presence of irritants favored gingival growth and that the association of nonsurgical and surgical periodontal therapies was effective in the treatment of GO. Besides, motivating the patient to maintain oral hygiene is a prerequisite for the maintenance of periodontal health.     

Psammomatoid juvenile ossifying fibroma: an analysis of 2 cases affecting the mandible with review of the literature

Juvenile ossifying fibroma (JOF) is a rare fibro-osseous neoplasm, defined as a variant of the ossifying fibroma that arises within the craniofacial bones. Two subgroups, juvenile psammomatoid ossifying fibroma (PsJOF) and juvenile trabecular ossifying fibroma, have been delineated by their histology. PsJOF occurs predominantly in the sinonasal and orbital bones. This work reports on 2 cases of extensive PsJOF in the body of the right mandible as well as reviews the literature regarding the radiographic and histologic features, treatment, and prognosis of PsJOF of the jaws.