Osteogenesis imperfecta is a rare genetic disorder that presents with heterogeneous phenotypes ranging from brittle bones to impaired hearing. Because of the decreased bone mineral density frequently observed in this patient population, many patients experience recurring and long-term fractures, which often require orthopaedic management. With the advancement of nonsurgical and surgical managem...

Acquired thoracic dystrophy is a complication associated with early open repair of pectus excavatum resulting from extensive cartilage resection. The condition can cause serious functional and physiologic impairments, including cardiac compression and restrictive pulmonary function. We describe a 17-year-old boy with acquired thoracic dystrophy after Ravitch repair of pectus excavatum during in...

OBJECTIVE To report a case of successful bone-anchored hearing aid implantation in an adult patient with type III osteogenesis imperfecta, which is commonly regarded as a contraindication to this procedure. CASE REPORT A 45-year-old man with type III osteogenesis imperfecta presented with mixed hearing loss. There was a mild sensorineural component in both ears, with an air-bone gap between 4...

Osteogenesis imperfecta is a heterogeneous group of genetic disorders that affect the integrity of the connective tissue. Manifestations of the disease include bone fragility, osteoporosis, dentigenesis imperfecta, blue sclera, easy bruising, joint deformity and scoliosis. On the other hand, colonic diverticular disease is the most common acquired disease of the large bowel in the western popul...

While stem cells can sense and respond to physical properties of their environment, the molecular aspects how physical information is translated into biochemical signals remain unknown. Here we show that human mesenchymal stem cells (hMSCs) harvest and assemble plasma fibronectin into their extracellular matrix (ECM) fibrils within 24 hours. hMSCs pro-actively pull on newly assembled fibronecti...

Porphyria cutanea tarda Gaucher's disease von Hippel-Lindau disease Huntington's chorea Polyposis coli Haemochromatosis 21-Hydroxylase deficiency Osteogenesis imperfecta (some forms) Cystic fibrosis Galactosaemia Multiple endocrine neoplasia Ila Sickle cell anaemia and a thalassaemia Acute intermittent porphyria Phenylketonuria (classic) Wilson's disease Retinoblastoma a,-Antitrypsin deficiency...

The prevalence of malocclusion and the need for orthodontic treatment in Indonesia is relatively very high. Orthodontic that transmits mechanical forces to periodontal ligament alveolar bone cells can stimulate remodeling. While this time, requires a long resulting several adverse effects discomfort. For reason, method accelerate needed which aims increase stability after active treatment, redu...

It has been shown in experimental animals that the living cells in a bone autograft can make an important contribution to osteogenesis. However, some common clinical techniques, such as the topical use of antibiotic powders on grafts or on the graft bed, are likely to damage or kill the cells. In this experimental study in rats, bone isografts dusted with chloramphenicol or methicillin powder o...

OBJECTIVE To evaluate whether mandibular distraction osteogenesis relieves tongue-based airway obstruction in patients with severe micrognathia. DESIGN Retrospective medical review spanning a 7-year period in a tertiary care hospital. The inclusion criterion was defined as micrognathia associated with a severe tongue-based obstruction. The patients included 11 neonates and infants (mean age, ...

In this study, we present the surgical treatment of obstructive sleep apnea in a child with Treacher Collins syndrome. A 10-year-old girl with a past history of Treacher Collins syndrome presented to our clinic with her parents for respiratory distress and insomnia. The patient was referred to a sleep laboratory where she was diagnosed with obstructive sleep apnea, which was a consequence of he...