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Biomedical subjects

Jose Morales

Publications and source records attributed to Jose Morales.

7 recordsLinked to original sources

Mitochondrial abnormalities in patients with primary open-angle glaucoma.

PURPOSE: Primary open-angle glaucoma (POAG) is the second most common cause of blindness. It has been linked to mutations in the myocilin (MYOC) and optineurin (OPTN) genes, although mutations have been found in <5% of patients. The pathologic mechanism(s) of POAG remain unknown but may include retinal ganglion cell apoptosis, which causes progressive damage to axons at the optic nerve head. METHODS: In 27 patients with definite POAG, the MYOC and OPTN genes were sequenced, the entire mitochondrial (mt)DNA coding region was sequenced, relative mtDNA content was investigated, and mitochondrial respiratory function was assessed. RESULTS: Only three benign polymorphisms were identified in MYOC and OPTN in patients with POAG and in control subjects. Conversely, 27 different novel nonsynonymous mtDNA changes were found, only in patients with POAG (not control subjects), 22 of which (found in 14 patients) were potentially pathogenic. Unlike Leber hereditary optic neuropathy, most mtDNA sequence alterations in patients with POAG were transversions-sequence changes that alter the purine/pyrimidine orientation and imply oxidative stress. mtDNA content was relatively increased in 17 patients with POAG compared with age-matched control subjects, also implying a possible response to oxidative stress. Mean mitochondrial respiratory activity was decreased by 21% in patients with glaucoma compared with control subjects (P<0.001). CONCLUSIONS: These results reveal a spectrum of mitochondrial abnormalities in patients with POAG, implicating oxidative stress and implying that mitochondria dysfunction may be a risk factor for POAG. This concept may open up new experimental and therapeutic opportunities.

Adult↗

Dechlorination of chlorinated phenols by catalyzed and uncatalyzed Fe(0) and Mg(0) particles.

Uncatalyzed, and palladium-catalyzed Fe(0) and Mg(0) systems were examined for their efficiencies of dechlorination of 2.86 mM 4-chlorophenol (4-CP), 2.52 mM 2,6-dichlorophenol (2,6-DCP), 3.03 mM 2,4,6-trichlorophenol (2,4,6-TCP), and 2.48 mM pentachlorophenol (PCP) in 50/50 (v/v) 2-propanol/water under room temperature and pressure conditions. Previous investigators have found that PCP is extremely recalcitrant under these conditions. In this investigation, complete dechlorination of 5.0 ml of 2.48 mM PCP was observed for 1.0 g of 2659 ppm Pd/Mg (20 mesh) after 48 h. The only detectable products were cyclohexanol and cyclohexanone at 25% yield. No other chlorinated or otherwise products were observed by mass spectral analysis. It is hypothesized that volatile low molecular weight species were formed from the Pd/Mg dechlorination of PCP. Under conditions of equal surface area (0.0786 m2), the approximate order of PCP dechlorination power of these systems followed as 2659 ppm Pd/Mg>319 ppm Pd/Mg>Mg approximately 4856 ppm Pd/Fe>Fe. Degradation of the other chlorinated phenols by all metallic systems was more facile than PCP.

Catalysis↗

Iatrogenic ring scotoma after laser in situ keratomileusis.

A 37-year-old ophthalmologist had bilateral simultaneous laser in situ keratomileusis (LASIK) for moderate myopia with astigmatism using the Alcon Summit LADARVision laser; an ablation zone of 5.5 mm was used. Five months after surgery, the uncorrected visual acuity was 20/20 and 20/25 but despite regular corneal topographies, the patient experienced prominent ghost images under photopic and scotopic conditions. To elucidate the nature of the problem, automated static perimetry was performed, which revealed a significant depression between 10 degrees and 30 degrees compared with a baseline study obtained 3 years earlier. The patient started brimonidine 0.2% 1 drop in both eyes every morning, which caused 1.5 to 2.0 mm of pupillary miosis (tonic pupil size 3.0 to 4.0 mm in dim light) and eradicated the ghost images. Repeat perimetry showed significant improvement in all indices. The mechanism of improvement is unclear but may be due to elimination of light scatter from the transition zone between the ablated and unablated cornea. The issue of perimetric changes after refractive surgery deserves more attention; postoperative testing may be indicated for patients in whom the ablation zone diameter is close to the mesopic or scotopic pupil size to provide an accurate lifetime baseline visual field.

Adult↗