No abstract available.
Neurofibromatoses* ; Peripheral Nerves*

No abstract available.
Cyclosporine* ; Humans ; Vitiligo*

No abstract available.
Histiocytosis*

Dystrophinopathy, caused by mutations in the DMD gene, presents with variable clinical phenotypes ranging from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy(BMD) forms. DMD is a recessive X-linked form of muscular dystrophy. Two-thirds of mothers of affected males are thought to be DMD carriers. Approximately 2.5-7.8% of female DMD carriers have muscle weakness and are categorized as manifesting DMD carriers. The symptoms of female carriers of DMD range from mild muscle weakness to severe gait problems. The most commonly presented symptom is mild proximal muscle weakness, which is often asymmetric and progressive, but shows variable clinical spectrum with BMD of more severe DMD-like phenotype. Atypical presentations in manifesting carriers are myalgia or cramps without limb weakness, isolated cardiomyopathy and camptocormia. Multiplex PCR and MLPA analysis are common techniques to identify mutations in the DMD gene. Relationship between X-chromosome inactivation and clinical severity is not clear. Female carriers of DMD are not less common, and they have an important role of birth of a male DMD.
Cardiomyopathies ; Extremities ; Female* ; Gait ; Humans ; Male ; Mothers ; Multiplex Polymerase Chain Reaction ; Muscle Cramp ; Muscle Weakness ; Muscular Dystrophies ; Muscular Dystrophy, Duchenne* ; Myalgia ; Parturition ; Phenotype

Glycogen storage disease type V (GSD-V) is the most common disorder of muscle glycogenosis with characteristic clinical and laboratory findings. A 32-yr-old woman complained of exercise intolerance and myoglobulinuria since early adolescence. She reported several episodes of second-wind phenomenon. Physical examination did not show any neurological abnormality, including fixed muscle weakness or atrophy. Serum creatine kinase level was 1,161 IU/L at rest. The result of the non-ischemic forearm exercise test was compatible with GSD-V. Mutation analysis identified the compound heterozygous mutations of the PYGM, p.D510fs and p.F710del, which has not yet been reported in Korea. The present case recognizes that detail clinical and laboratory analysis is the first step in the diagnosis of GSD-V.
Adult ; Base Sequence ; Creatine Kinase/blood ; Exons ; Female ; Frameshift Mutation ; Gene Deletion ; Genotype ; Glycogen Phosphorylase, Muscle Form/genetics ; Glycogen Storage Disease Type V/*diagnosis/genetics/pathology ; Humans ; Pedigree ; Sequence Analysis, DNA

Author list should be corrected.

No abstract available.
Animals ; Horns* ; Keratoacanthoma*

No abstract available.
Multiple Myeloma* ; Bortezomib

No abstract available.
Leiomyosarcoma* ; Neoplasm Metastasis* ; Scalp* ; Skin

A 39-year-old hairdresser developed sodium bromate poisoning after drinking a cup of hair neutralizer in a suicide attempt. This is the first case of visual loss afteringestion of sodium bromate. Only few cases are as a cause of acute renal failure reported in medical literature. She presented 1 day later with anuria, required hemodialysis. Sensorineural hearing loss, often a characteristic finding, was developed.
Acute Kidney Injury* ; Adult ; Anuria ; Deafness* ; Drinking ; Hair ; Hearing Loss, Sensorineural ; Humans ; Poisoning* ; Renal Dialysis ; Sodium* ; Suicide