BACKGROUND Fibular shortening is one of the most common causes of ankle valgus deformity in children, and is frequently observed in patients with hereditary multiple exostoses (HME). It has been observed that the lateral distal tibial angle (LDTA) measured on the teleoradiograph differs from that on the ankle anteroposterior (AP) radiograph. The effect of the beam projection angle in the measur...

Focal malformations of cortical development, including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), are important causes of intractable childhood epilepsy. Using targeted and exome sequencing on DNA from resected brain samples and nonbrain samples from 53 patients with FCD or HME, we identified pathogenic germline and mosaic mutations in multiple PI3K/AKT pathway genes in 9 pati...

Studies in Drosophila and vertebrate systems have demonstrated that heparan sulfate proteoglycans (HSPGs) play crucial roles in modulating growth factor signaling. We have isolated mutations in sister of tout velu (sotv), a gene that encodes a co-polymerase that synthesizes HSPG glycosaminoglycan (GAG) chains. Our phenotypic and biochemical analyses reveal that HS levels are dramatically reduce...

A 27 year old man presented with two bony lumps in the fifth toe of the right foot. Both lumps were present from early childhood. The lump in the toe was painful while both lumps were bony and the lump in the metatarsal was diagnosed to be an exostosis of the bone while the phalangeal lump was diagnosed to be an enchondroma. It is a known association to have multiple exostosis with diaphyseal b...

objectives the aim of this study was to study the incremental cost-effectiveness ratio associated with the use of heat and moisture exchangers (hme) filter to prevent vap compared with the heated humidifiers (hh) presently adopted by intensive care unit (icu) services within the brazilian healthcare unified system. patients and methods this study was a cost-effectiveness analysis (cea) comparin...

Osteochondroma is the most common benign tumor or tumorlike lesion of bone. The radiographic appearance is often diagnostic, that is, a lesion composed of cortical and medullary bone with a cartilage cap. These lesions may be solitary or multiple, with the latter associated with the syndrome HME. Complications are commonly associated with its exophytic nature and include cosmetic and osseous de...