PURPOSE To evaluate the efficacy of adenovirus mediated transfer of ornithine delta-aminotransferase (OAT) into human retinal pigment epithelial (RPE) cells. METHODS Adenovirus-mediated gene transfer into primary cultures of human RPE was evaluated by measurement of enzyme activity in whole cell extracts and by Western blot analysis. To assess mitochondrial integrity, succinate dehydrogenase ...

l-Proline concentration is primarily related to the balance of enzymatic activities of proline dehydrogenase [proline oxidase (POX)] and Delta-1-pyrroline-5-carboxylate (P5C) reductase. As a result, P5C plays a pivotal role in maintaining the concentration of proline in body fluids and inborn errors of P5C metabolism lead to disturbance of proline metabolism. Several inborn errors of proline me...

Context Acromegaly usually is suspected on clinical grounds. Biochemical confirmation is required to optimize therapy, but there are other differential diagnoses. Case Description We describe a 24-year-old Uzbek man who presented with many clinical symptoms and signs of apparent acromegaly. On examination, the patient showed a rugose folding of his scalp, with the formation of tender, painful...

Differentiation methods for human induced pluripotent stem cells (hiPSCs) typically yield progeny from multiple tissue lineages, limiting their use for drug testing and autologous cell transplantation. In particular, early retina and forebrain derivatives often intermingle in pluripotent stem cell cultures, owing to their shared ancestry and tightly coupled development. Here, we demonstrate tha...

We reviewed the literature on ornithine supplementation and related topics. Nutritionists and physicians have reported that ornithine supplementation is useful. Paediatricians and biochemists have reported that ornithine is supplemented for NH3 detoxification in the hyperornithinaemia–hyperammonaemia–homocitrullinuria (HHH) syndrome. In contrast, ophthalmic researchers have reported retinotoxic...

objective a 4-month-old female with osteogenesis imperfecta (oi) type ii was admitted in picu of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated. due to severe hypotonia, ncv and emg were performed, and spinal muscular atrophy (sma) type i was diagnosed.

Sir, Annular pustular psoriasis (APP) is a rare form of psoriasis characterized by gyrate, annular lesions with an erythematous, scaly, pustular margin (1). Although usually generalized, in some instances it appears as a localized form (2). We herein report a case of APP localized to the dorsa of feet of a 23year-old woman. She had a 4-year history of similar lesions on the same area, but there...

Ophthalmoscopic Examination.-This was carried out under general anaesthesia on March 20, 1948, when the appearances in the right eye were as shown in the Figure. Large areas of choroido-retinal degeneration were scattered over both fundi, the macular area being severely involved. The degenerative areas were gyrate in shape and there were irregular patches of pigment scattered throughout the fun...