Genome rearrangements are a hallmark of human genomic disorders and occur largely through recombination mechanisms. In this issue, Lee et al. (2007) show that the complex nonrecurrent rearrangements observed in the dysmyelinating disorder Pelizaeus-Merzbacher disease (PMD) are likely to be caused by a replication mechanism involving template switching.

Patients admitted to movement disorders outpatient unit at a university hospital between January 2002 and June 2007 were screened for psychogenic movement disorders (PMDs). Out of 1,743 patients, 49 patients (2.8%), including four children, were diagnosed to have PMDs. Women to men ratio was 34/15. The mean age and the age-at-onset were 41 +/- 17 years and 36 +/- 15 years in the adult group, an...

The dorsal premammillary nucleus (PMd) is one of the most responsive hypothalamic sites during exposure to a predator or its odor, and to a context previously associated with a predatory threat; and lesions or pharmacological inactivation centered therein severely reduced the anti-predatory defensive responses. Previous studies have shown that beta adrenergic transmission in the PMd seems criti...

A pH-sensitive co-delivery system was designed for the treatment of metastatic lung cancers by pulmonary delivery of doxorubicin (DOX) and Survivin siRNA. Conjugates PEI-BMPH-DOX (PMD) of polyethylenimine (PEI) with DOX were developed via a pH-sensitive hydrazine bond (3-maleimidopropionic acid hydrazide, BMPH). Furthermore, the PMD/Survivin siRNA complex nanoparticles were prepared by electros...

Placental mesenchymal dysplasia (PMD) is characterized by multiple hypoechoic vesicles which are similar to molar changes in the placenta; however, the process of such morphological changes of PMD during pregnancy has not been fully understood. We performed a review of all PMD cases published in English and identified 49 articles including 110 cases. With regard to the gestational age at which ...

Introduction. Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. It is caused by mutation in the PLP1 gene. Case Description. We report a 9-year-old boy referred for oligoarray comparative genomic hybridization (OA-CGH) because of intellectual delay, seizures, microcephaly,...

PURPOSE To report an unusual presentation of pellucid marginal degeneration (PMD) and its management by using air injection and tension sutures. CASE REPORT We report 2 cases with a history of acute pain and loss of vision. Examination revealed hydrops at the 6-9 o'clock meridian with Descemet's membrane detachment and tear at the same area and advanced PMD in the other eye. DISCUSSION Air ...

Because of a shortage of valid instruments to measure the QOL of people with profound multiple disabilities (PMD), the QOL-PMD was developed. In the present study, possibilities for item reduction as well as the psychometric properties of the questionnaire were examined. One hundred and forty-seven informants of people with PMD participated in the study. Fifty items were removed from the questi...

Protein microarray is a powerful technology for both basic research and clinical study. However, because there is no database specifically tailored for protein microarray, the majority of the valuable original protein microarray data is still not publically accessible. To address this issue, we constructed Protein Microarray Database (PMD), which is specifically designed for archiving and analy...

We demonstrate both numerically and experimentally that the phase-change due to fiber nonlinearities induces a bitpattern-dependent rotation of the state-of-polarization which translates to uncertainty in the principal states of polarization. This effect severely limits the performance of the first-order PMD post-compensation and suggests the use of in-line compensators. Our simulation shows th...