DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

Purpose: Determining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease (IRD). Methods: Genome and exome sequencing were performed for five unrelated cases of IRD with no identified variant. In vitro assays were developed to validate the variants identified (fibroblast assay, induced pluripotent stem cell [iPSC] derived retinal organoids, and a dynein motility assay). Results: Four novel DYNC2H1 variants (V1, g.103327020_103327021dup; V2, g.103055779A>T; V3, g.103112272C>G; V4, g.103070104A>C) and one previously reported variant (V5, g.103339363T>G) were identified. In proband 1 (V1/V2), V1 was predicted to introduce a premature termination codon (PTC), whereas V2 disrupted the exon 41 splice donor site causing incomplete skipping of exon 41. V1 and V2 impaired dynein-2 motility in vitro and perturbed IFT88 distribution within cilia. V3, homozygous in probands 2–4, is predicted to cause a PTC in a retina-predominant transcript. Analysis of retinal organoids showed that this new transcript expression increased with organoid differentiation. V4, a novel missense variant, was in trans with V5, previously associated with Jeune asphyxiating thoracic dystrophy (JATD). Conclusion: The DYNC2H1 variants discussed herein were either hypomorphic or affecting a retina-predominant transcript and caused nonsyndromic IRD. Dynein variants, specifically DYNC2H1 variants are reported as a cause of non syndromic IRD

STUDY OF BIODIESEL PRODUCTION FROM WASTE COOKING OIL APPLYING THE SURFACE RESPONSE

Two ways of synthesis to produce biodiesel from waste cooking oil were compared: 1) Transesterification of fatty acids with basic catalyst (KOH) and 2) Esterification with H2SO4 followed by the transesterification evaluated previously, using factorial designs 23 with central points and the Surface Response Methodology (RSM). Raw material was characterized through its acid value and moisture content. In synthesis (1) the factorial design factors were: reaction temperature, catalyst wt%/ weight of processed oil and, methanol:oil molar ratio, and response variables were: yield of reaction, density and, kinematic viscosity, with 75 minutes as reaction time. Yields around 88% were achieved. In synthesis (2) the factorial design was applied only for esterification reaction, using two of the preceding factors and reaction time instead of temperature (fixed at 60ºC). The best conditions determined for synthesis (1) were applied and yield of reaction increased to 97%. The kinematic viscosities and densities satisfied the standards.</jats:p

Antiphospholipid antibodies and cerebral artery dissection: two frequent causes of brain ischemia in young adults.

As part of a multicenter study on ischemic stroke in the young, we report the occurrence of high antiphospholipid antibody (aPLs) levels and cerebral dissection in 75 patients. These represent the two most frequent non-thromboembolic causes of cerebral ischemia in our population. Increased aPL titres were found in nine cases (12%); cerebral artery dissection in eleven (14%). Our data stress the need to modify the classical diagnostic approach to cerebral ischemia by including hematological assessments and new neuroimaging techniques as screening tests