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

Painful hip arthroplasty: definition.

Total hip arthroplasty (THA) has been indicated as the surgical intervention with greatest improvement in pain and physical function. However some patients continue to experience hip pain after elective surgery. We investigate prognostic factors that negatively affect treatment effectiveness and the patient outcome. The "hip region" constitutes the groin, buttock, upper lateral thigh, greater trochanteric area, and the iliac crest. Pain originating from various sources and not directly linked to prosthesis may be perceived here and includes the lumbosacral spine, referred pain from abdominal organs and soft tissue sources such as trochanteric bursitis, tendinitis, hip abductor dysfunction, and inguinal hernia. An accurate assessment of the pain cause is extremely difficult to construct and a complete differential diagnosis is fundamental. We assess all the possible causes of hip pain after THA and we divide them depending on the presence or absence of radiographic signs