MTHFR C677T and A1298C Genotypes and Haplotypes in Slovenian Couples with Unexplained Infertility Problems and in Embryonic Tissues from Spontaneous Abortions

The objective of this study was to analyze the methylenetetrahydrofolate reductases (MTHFRs) C677T and A1298C genotype distributions in couples with unexplained fertility problems (UFP) and healthy controls, and to analyze the genotype and haplotype distribution in spontaneously aborted embryonic tissues (SAET) using allele specific polymerase chain reaction (PCR) in 200 probands with UFP, 353 samples of SAET and 222 healthy controls. The analysis revealed a significant overall representation of the 677T allele in male probands from couples with UFP (p = 0.036). The combined genotype distribution for both MTHFR polymorphisms was also significantly altered (χ2 21.73, p <0.001) although female probands made no contribution (c2 1.33, p = 0.72). The overall representation of the 677T allele was more pronounced in SAET (0.5 vs. 0.351 in controls, p <0.001) regardless of the karyotype status (aneuploidy vs. normal karyotype). In addition, the frequencies of the CA and CC haplotypes were significantly lower than in the control group (p = 0.021 and p = 0.001, respectively), whereas the frequency of the TC haplotype was significantly higher than in controls (p <0.0001). The presented findings indicate that only male probands contribute to the association of MTHFR mutations with fertility problems in grown adults and demonstrate a high prevalence of mutated MTHFR genotypes in SAET

Kinect4FOG: Monitoring and Improving Mobility in People with Parkinson’s using a Novel system incorporating the Microsoft Kinect v2

Parkinson’s is a neurodegenerative condition associated with several motor symptoms including tremors and slowness of movement. Freezing of Gait (FOG); the sensation of one’s feet being ‘glued’ to the floor, is one of the most debilitating symptoms associated with advanced Parkinson’s. FOG not only contributes to falls and related injuries, but also compromises quality of life as people often avoid engaging in functional daily activities both inside and outside the home. In the current study, we describe a novel system designed to detect FOG and falling in People with Parkinson’s (PwP) as well as monitoring and improving their mobility using laser-based visual cues cast by an automated laser system. The system utilises a RGB-D sensor based on Microsoft Kinect v2 and a laser casting system consisting of two servo motors and an Arduino microcontroller. This system was evaluated by 15 PwP with FOG. Here, we present details of the system along with a summary of feedback provided by PwP. Despite limitations regarding its outdoor use, feedback was very positive in terms of domestic usability and convenience, where 12/15 PwP showed interest in installing and using the system at their homes