Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB)

Muscle-eye-brain disease (MEB) is a recessively inherited rare disease. Sixteen different gene mutations are known, with the most common mutations in the POMGNT1 gene. The disease is now called congenital muscular dystrophy-dystroglycanopathy type A3 (MDDGA3). It manifests itself as muscular dystrophy with eye and brain anomalies and intellectual disability. Previous clinical reports describe young patients. We have been able to follow two patients for almost 40 years. Their clinical picture has remained quite stable since adolescence, appearing as severe intellectual and motor disability, extremely limited communication skills, visual impairment, epilepsy, joint contractures, repeated bowel obstructions, teeth abrasion due to bruxism, an irregular sleep pattern and as a previously unreported feature hypothermic periods manifesting as excessive sleepiness

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology. Exome sequencing was applied to 1001 undiagnosed patients recruited from more than 40 neuromuscular disease referral centers; standardized phenotypic information was collected for each patient. Exomes were examined for variants in 429 genes associated with muscle conditions. We identified suspected pathogenic variants in 52% of patients across 87 genes. We detected 401 novel variants, 116 of which were recurrent. Variants in CAPN3, DYSF, ANO5, DMD, RYR1, TTN, COL6A2, and SGCA collectively accounted for over half of the solved cases; while variants in newer disease genes, such as BVES and POGLUT1, were also found. The remaining well-characterized unsolved patients (48%) need further investigation. Using our unique infrastructure, we developed a pathway to expedite muscle disease diagnoses. Our data suggest that exome sequencing should be used for pathogenic variant detection in patients with suspected genetic muscle diseases, focusing first on the most common disease genes described here, and subsequently in rarer and newly characterized disease genes

New technologies

A review article dealing with the future technologies to be utilized in agriculture. The Kemira GroweHow School publication for internal knowledge buildin

Laser-induced fluorescence (LIF) of lignin and lignin model compounds in Raman spectroscopy

Abstract Raman spectroscopy is a technique that provides structural information on lignin and other components of wood and pulp in situ. However, especially lignin-containing samples may produce laser-induced fluorescence (LIF) that overlaps with Raman bands. In the worst case, this background signal can overwhelm the weaker Raman signal completely. In this study, the LIF of lignin was investigated with the excitation wavelength 532 nm applied in Raman spectroscopy to clarify the correlations between lignin structure and LIF intensity. Raman spectroscopic analyses with lignin model compounds illustrated that the 5-5′ structures induce LIF. It was also shown that the intensity of LIF was significantly less intense when the 5-5′ model compound was structurally rigid (as in dibenzodioxocin) compared with the flexible simple counterpart. The comparison between the free phenolic model compounds with the methylated analogue showed that the presence of the free phenolic structure was not a prerequisite for LIF. It was thus concluded that the conformation of the molecule is the key factor with respect to fluorescence. The role of conformational aspects was further investigated by comparing wood with chemical pulps and isolated lignins.</jats:p

Analysis of chromosome aneuploidy in sperm by fluorescence in situ hybridization - a new approach to the study of male fertility in environmental exposures.

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