Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with a prevalence of about1/3000. The clinical diagnosis NF1 based on the presence two or more followingcriteria: six café au lait spots, >2 neurofibromas any type, freckling in axillary oringuinal region, optic glioma, distinctive osseous lesion such as sphenoid dysplasia thinning oflong bone cortex without pseudoarthrosis, and...

of the 4th ventricle in a 41 year-old man with neurofibromatosis type 1 (NF1). This patient had a family history of NF1 and presented with café-au-lait spots and multiple neurofibromata. At the age of 16 years (1983), he presented with severe headache and the head computed tomogram (CT) scan showed a 4th ventricular mass. The mass was partially resected and the histology was initially reported ...

Background and purpose: Moyamoya angiopathy (MA) is a progressive cerebrovascular disease with poorly understood pathophysiology. It mainly characterized by bilateral stenosis of the terminal intracranial part supraclinoid internal carotid arteries proximal parts middle anterior cerebral arteries. This results in early-onset ischemic or hemorrhagic strokes. The may be idiopathic (known as disea...

For increasing the number of internal hot spots in the individual plasmonic nanoparticles, porous Au nanostructures were synthesized by a hybrid approach combining a physical process, which defined the overall shapes and dimensions of the nanostructures, and a chemical process, which incorporated nanopores inside the patterned nanostructures. This approach allows us to synthesize lithographical...

Diagnosis within Noonan syndrome and related disorders (RASopathies) still presents a challenge during the first months of life, since most clinical features used to differentiate these conditions become manifest later in childhood. Here, we retrospectively reviewed the clinical records referred to the first year of life of 57 subjects with molecularly confirmed diagnosis of RASopathy, to defin...

Perrault syndrome is an autosomal recessive disorder characterized by sensorineural deafness and ovarian dysgenesis. Some patients also have neurologic abnormalities, including cerebellar ataxia, nystagmus, polyneuropathy and mild mental retardation. The syndrome is known to be caused by mutations in HSD17B4 or HARS2 until now but few patients were reported. We report on two sporadic Korean pat...

Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disease that is characterized by the presence of multiple neurofibromas, café-au-lait spots and iris hamartomas. It is well established that the incidence of tumors in patients with NF1 is high compared with the normal population and that the majority of the tumors are non-epithelial neoplasms, including neurofibromas, malignant ...

Four year old girl was evaluated for precocious puberty. Breast development and pubic hair growth had started at age 2½ year, and had been followed by vaginal bleeding resembling periods. Gaf-au-lait spots were present in most of her skin surface. Bone x-rays showed multiple cysts in pelvis and the metaphysis of femur. Diagnosis of McCune-Albright syndrome was made. Concentrations of all hormon...

In this work, a hierarchical DNA-directed self-assembly strategy to construct structure-controlled Au nanoassemblies (NAs) has been demonstrated by conjugating Au nanoparticles (NPs) with internal-modified dithiol single-strand DNA (ssDNA) (Au-B-A or A-B-Au-B-A). It is found that the dithiol-ssDNA-modified Au NPs and molecule quantity of thiol-modified ssDNA grafted to Au NPs play critical role...