[Observation on therapeutic effect of filiform fire needle assisted 308 nm excimer laser on vitiligo of different parts].

Objective: To compared the therapeutic effect between filiform fire needle assisted 308 nm excimer laser and simple 308 nm excimer laser on vitiligo of different parts.

Methods: Target lesions of 134 patients were divided into an observation group and a control group according to the principle of self-controlled, 201 pieces in each one. In the observation group, filiform fire needle was performed at target lesions.

A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient.

Background: Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is characterized by myoclonus, generalized epilepsy, cerebellar ataxia, and ragged red fibers (RRFs) in the muscle. T-to-C transition at nucleotide position 14709 in the mitochondrial tRNA glutamic acid (tRNA) gene has previously been associated with maternally inherited diabetes and deafness. However, the association between MERRF and mitochondrial T14709C mutation (m.

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.

Background: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype correlations are still not well understood. The aim of this study was to report the clinicopathological and genetic characteristics of five Chinese patients with late-onset Pompe disease (LOPD) who carried novel GAA gene mutations.

Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles.

Background: Myopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopathy with rimmed vacuoles in a large family with 11 patients of three generations affected.

Methods: A clinical study including family history, obstetric, pediatric, and development history was recorded.

Genomewide association study of leprosy.

Background: The narrow host range of Mycobacterium leprae and the fact that it is refractory to growth in culture has limited research on and the biologic understanding of leprosy. Host genetic factors are thought to influence susceptibility to infection as well as disease progression.

Methods: We performed a two-stage genomewide association study by genotyping 706 patients and 1225 controls using the Human610-Quad BeadChip (Illumina).

Comparison of histologic, biochemical, and mechanical properties of murine skin treated with the 1064-nm and 1320-nm Nd:YAG lasers.

The goal of this study was to compare the effects of the Q-switched 1064-nm Nd:YAG laser and the 1320-nm Nd:YAG laser non-ablative treatments on mouse skin in vivo. Skin elasticity measurements were carried out with a Reviscometer, and skin samples were taken for histological study, hydroxyproline content assay and estimation of collagen type I and III. By the second month after non-ablative treatments, the 1064-nm laser treatment resulted in an average of 25% greater improvement of skin elasticity, 6% more increase of dermal thickness, and 11% higher synthesis of hydroxyproline than the 1320-nm laser.

Assessment of knowledge and skills in early diagnosis of leprosy and attitudes towards leprosy amongst doctors working in dermatological services, Shandong Province, People's Republic of China.

After the leprosy control programme in Shandong Province, China, had declared elimination in 1994, it was no longer cost effective to rely on rapid surveys, population surveys and contact tracing for case detection, and since then most new cases have been diagnosed by the dermatological services. The dermatological services will continue to play an important role in diagnosis of the few incident leprosy cases scattered in wide geographic areas and in a population of 90 million. In order to better understand the knowledge and skills in early diagnosis of leprosy among doctors working in dermatological services around the province, doctors attending the dermatological annual meeting and a dermatological training workshop were assessed on their knowledge and skills in early diagnosis of leprosy and their attitude towards leprosy with a semi-structured questionnaire.