Proliferation and apoptosis in the guinea pig adrenal cortex during postnatal development

The aim of the study was to determine the relation between involution of the FZ and the proliferation and apoptosis of the adrenal cortex cells. The study was carried out with adrenal glands from guinea pigs aged 1, 3, 9, 14, 21, 35 and 90 days. Paraffin slices were stained with Mayer haematoxylin and eosin and with acid fuchsin. For the immunohistochemical reaction the Anti -PCNA Clone PC10 (Dako) was used. Apoptosis evaluation was performed with use of the TUNEL method (Roche). The results support the theory of involution of the FZ cells realised mainly by way of apoptosis. Analysis of the distribution and number of PCNA-positive cells in the adrenal cortex on subsequent days of PD may also back up the migration theory of renewal of the adrenal cortex cells

Association of GH Gene Polymorphism with Semen Parameters of Boars

Relations between polymorphism of the Growth Hormone gene and semen characters were analyzed. The DNA for the purpose of examination was isolated from the peripheral blood of 173 boars. In the boar herd under study the frequency of allele occurrence for the GH/MspI was as follows: allele GHA - 0.79 and allele GHB - 0.21. As far as the GH/HaeII polymorphism is concerned, the relevant frequency was as follows: allele GHA - 0.53 and allele GHB - 0.47, respectively. The relationship between the GH genotypes and semen characteristic traits were analyzed. The study showed that boars with GHBGHB genotype of both polymorphous loci of the GH gene produced ejaculates of larger volume, higher percentage, number of normozosperms in the ejaculate and number of insemination as compared to GHA GHA and GHAGHB boars. Our current findings suggested that polymorphism of the GH/MspI and GH/HaeII might have potential effect for reproductive performance traits of boars

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

OBJECTIVES: The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognized. We aimed to investigate this paucity of diagnoses. METHODS: We undertook weighted burden analysis of whole-exome sequencing (WES) data from 138 individuals with unresolved generalized dystonia of suspected genetic etiology, followed by additional case-finding from international databases, first for the gene implicated by the burden analysis (VPS16), and then for other functionally related genes. Electron microscopy was performed on patient-derived cells. RESULTS: Analysis revealed a significant burden for VPS16 (Fisher's exact test p value, 6.9 × 109 ). VPS16 encodes a subunit of the homotypic fusion and vacuole protein sorting (HOPS) complex, which plays a key role in autophagosome-lysosome fusion. A total of 18 individuals harboring heterozygous loss-of-function VPS16 variants, and one with a microdeletion, were identified. These individuals experienced early onset progressive dystonia with predominant cervical, bulbar, orofacial, and upper limb involvement. Some patients had a more complex phenotype with additional neuropsychiatric and/or developmental comorbidities. We also identified biallelic loss-of-function variants in VPS41, another HOPS-complex encoding gene, in an individual with infantile-onset generalized dystonia. Electron microscopy of patient-derived lymphocytes and fibroblasts from both patients with VPS16 and VPS41 showed vacuolar abnormalities suggestive of impaired lysosomal function. INTERPRETATION: Our study strongly supports a role for HOPS complex dysfunction in the pathogenesis of dystonia, although variants in different subunits display different phenotypic and inheritance characteristics. ANN NEUROL 2020;88:867-877

Analysis of the permanent magnets magnetization on the transients of the electrical and mechanical quantities of a brushless dc motor

Circuit-field models of the brushless DC motor with parallel and radial magnets magnetization were developed. Transients of the electrical and mechanical quantities of the motor were determined at parallel and radial magnets magnetization. Experimental verification was carried out. The computed and the measured transients were compared