A large number of mutations in the human PLP1 gene lead to abnormal myelination and oligodendrocyte death in Pelizaeus-Merzbacher disease (PMD). Here we show that a major subgroup of PMD mutations that map into the extracellular loop region of PLP/DM20 leads to the failure of oligodendrocytes to form the correct intramolecular disulfide bridges. This leads to abnormal protein cross-links and en...

Missense mutations in the human PLP1 gene lead to dysmyelinating diseases with a broad range of clinical severity, ranging from severe Pelizaeus-Merzbacher disease (PMD) to milder spastic paraplegia type 2 (SPG-2). The molecular pathology has been generally attributed to endoplasmic reticulum (ER) retention of misfolded proteolipid protein (PLP) (and its splice isoform DM20) and induction of th...

The effect of polarization mode dispersion (PMD) on Manakov solitons and dispersion managed solitons is treated analytically and by numerical simulation. In the analytic approach the internal motion of the Manakov soliton is represented as a damped harmonic oscillator. The PMD functions as a white noise source driving the oscillations. It is shown that the solitons can withstand PMD up to a cer...

The term piecemeal degranulation (PMD) refers to a slow releasing process mediated by vesicular transport of stored secretory granule contents. This form of cell secretion was first proposed for basophils, mast cells and eosinophils, but evidence has begun to accumulate that PMD also occurs in dense-core granules of neuroendocrine cells and neurons. This review summarizes the electron-microscop...

UNLABELLED The study aim was to compare European Organization for Research and Treatment of Cancer (EORTC) criteria with PET Response Criteria in Solid Tumors (PERCIST) for response evaluation of patients with metastatic colorectal cancer treated with a combination of the chemotherapeutic drug irinotecan and the monoclonal antibody cetuximab. METHODS From 2006 to 2009, patients with metastati...

Probably the greatest challenge to those managing patients with oral diseases is the dilemma of attempting to predict which oral erythroplakias, leukoplakias, lichenoid and other potentially malignant mucosal disease (PMD) such as oral submucous fibrosis will progress to neoplasia--notably oral squamous cell carcinoma (OSCC). The paper reviews progress over the past decade and the application t...

Background – Carotid duplex ultrasound (CDU) is routinely used for detection of extracranial internal carotid artery (EICA) stenosis in stroke patients. Power M-mode transcranial Doppler (PMD-TCD) is a new technology designed for studying intracranial vessels. This prospective study was performed for validation of CDU versus digital subtraction cerebral angiography (DSA) and PMD-TCD versus CDU ...

A novel deterministic PMD emulator, consisting of delay-sections coupled by rotators, is proposed. The stochastic behavior of its parameters is analysed. By opportunely choosing the rotation angles, this emulator is able to reproduce the PMD statistics up to third order with a reduced number of sections.

BACKGROUND Pelizaeus-Merzbacher disease (PMD) and a complicated form of familial spastic paraparesis (spastic paraplegia 2 [SPG2]) are X-linked development disorders of myelin formation caused by a mutation in the proteolipid protein (PLP) gene. Spastic paraplegia 2 is allelic to PMD. The wide range of PLP mutations results in a corresponding large spectrum of clinical severity in PMD, with a c...

A 55-year-old male with history of coronary artery disease, chronic kidney disease stage 4, diabetes mellitus, uncontrolled hypertension (on multiple antihypertensive medications), and iron deficiency anemia was referred for esophagogastroduodenoscopy (EGD) for evaluation of intractable nausea and vomiting. EGD showed black speckled pigmentation of the duodenal mucosa (Figure 1). Duodenal biops...