The physicochemical stability of an aqueous, phospholipid-based dispersion of itraconazole microcrystals was studied as a model water-insoluble drug suspension. The particle size, phospholipid concentrations, free fatty acid (FFA) content, pH, and zeta potential of two test suspensions were followed over 63 days at 5 and 40 degrees C storage conditions. Hydrolysis of a control suspension contai...

MOTIVATION RNA sequencing enables allele-specific expression (ASE) studies that complement standard genotype expression studies for common variants and, importantly, also allow measuring the regulatory impact of rare variants. The Genotype-Tissue Expression (GTEx) project is collecting RNA-seq data on multiple tissues of a same set of individuals and novel methods are required for the analysis ...

osting by E C BY-NCAbstract Lipoid proteinosis is an autosomal recessive disease of abnormal deposition of glycoprotein in various tissues. Symptoms may include a hoarse voice, lesions and scarring on the skin, easily damaged skin with poor wound healing, dry, wrinkly skin, and beading of the papules around the eyelids. Calcifications of brain tissue can lead to epilepsy and neuropsychiatric ab...

BACKGROUND Rodent approach-avoidance conflict tests are common preclinical models of human anxiety disorder. Their translational validity mainly rests on the observation that anxiolytic drugs reduce rodent anxiety-like behavior. Here, we capitalized on a recently developed approach-avoidance conflict computer game to investigate the impact of benzodiazepines and of amygdala lesions on putative ...

Lipoid proteinosis or Urbach-Wiethe disease is a rare autosomal recessive disorder. It is characterized by progressive deposition of hyaline substance in the mucous membranes, skin and internal organs. It is characterized by papular and nodular lesions on the face, elbows, knees and hands. The tongue is firm and hoarseness may be present at birth. We aim to describe one case of this disease in ...

Demographical and Neuropsychological Characteristics With less than 300 reported cases since its initial description, lipoproteinosis of UrbachWiethe (LP; syn. Urbach-Wiethe disease or Hyalinosis cutis et mucosae; OMIM 247100), LP is a rare autosomal recessive genodermatosis typified by cutaneous, mucosal and visceral deposits of periodic acid-Schiff (PAS)–positive hyaline (glycoprotein) materi...

SINCE the original description of Tay-Sach's disease in the eighties of the last century a group of allied nervous disorders has become recognized, the common pathological feature of which is a ubiquitous distention of the nerve cells with granules of a lipoid nature. Apart from a few anomalous forms it is customary to classify these amaurotic family idiocies according to the time of onset of t...

Lipoid proteinosis is a rare autosomal recessive inherited metabolic disorder characterized by deposition of a hyaline-like material in the skin, oral laryngeal mucosa, and in other sites. In this report, the author describes 2 Saudi siblings who had characteristic skin findings, oral and mucosal lesions, histological findings along with few rarely encountered manifestations including pathognom...

Lipoid proteinosis is a rare autosomal recessive disorder which may be seen within a family very occasionally. Herein, we report lipoid proteinosis in two sisters characterized by verrucous lesions and hoarseness of voice, dysphagia and multiple beaded papules along the margins of their eyelids, fissured lips and thick ferenulum.

Extracellular matrix protein 1 (ECM1) is expressed in a wide variety of tissues and plays important roles in extracellular matrix formation. Additionally, ECM1 gene mutations cause lipoid proteinosis (LP), a rare skin condition of genetic origin. However, an effective therapeutic approach of LP is not established. Here, we showed that ECM1 gene mutation observed in LP patients significantly sup...