20 research outputs found

    Determination of the Beta Ray Energy Spectrum from the Absorption Curves of Beta Rays

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    <p>(a) The decrease in food-discovery time between the first tests on two successive days; (b) the positive correlation between colony size and the number of workers searching (mean values for the first tests on the two successive days are presented). The asterisk indicates a significant difference.</p

    Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy

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    Cellular distribution and dynamics of mitochondria are regulated by several motor proteins and a microtubule network. In neurons, mitochondrial trafficking is crucial because of high energy needs and calcium ion buffering along axons to synapses during neurotransmission. The trafficking kinesin proteins (TRAKs) are well characterized for their role in lysosomal and mitochondrial trafficking in cells, especially neurons. Using whole exome sequencing, we identified homozygous truncating variants in TRAK1 (NM_001042646:c.287-2A > C), in six lethal encephalopathic patients from three unrelated families. The pathogenic variant results in aberrant splicing and significantly reduced gene expression at the RNA and protein levels. In comparison with normal cells, TRAK1-deficient fibroblasts showed irregular mitochondrial distribution, altered mitochondrial motility, reduced mitochondrial membrane potential, and diminished mitochondrial respiration. This study confirms the role of TRAK1 in mitochondrial dynamics and constitutes the first report of this gene in association with a severe neurodevelopmental disorder

    Experimental Psychology - 2022

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    Comparative analysis detects dependencies among the 5′ splice-site positions

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    Human–mouse comparative genomics is an informative tool to assess sequence functionality as inferred from its conservation level. We used this approach to examine dependency among different positions of the 5′ splice site. We compiled a data set of 50,493 homologous human–mouse internal exons and analyzed the frequency of changes among different positions of homologous human–mouse 5′ splice-site pairs. We found mutual relationships between positions +4 and +5, +5 and +6, −2 and +5, and −1 and +5. We also demonstrated the association between the exonic and the intronic positions of the 5′ splice site, in which a stronger interaction of U1 snRNA and the intronic portion of the 5′ splice site compensates for weak interaction of U1 snRNA and the exonic portion of the 5′ splice site, and vice versa. By using an ex vivo system that mimics the effect of mutation in the 5′ splice site leading to familial dysautonomia, we demonstrated that U1 snRNA base-pairing with positions +6 and −1 is the only functional requirement for mRNA splicing of this 5′ splice site. Our findings indicate the importance of U1 snRNA base-pairing to the exonic portion of the 5′ splice site

    Discretization-Based and Look-Ahead Algorithms for the Dubins Traveling Salesperson Problem

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    Immunization and Host Responses to <i>MB-1</i>, a Live Hatchery Vaccine against Infectious Bursal Disease

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    MB-1 is an attenuated infectious bursal disease virus vaccine. Previously, we observed a temporal delay of vaccine virus replication in the bursae of chicks due to maternally derived antibodies (MDAs). The mechanism that allowed its survival despite MDA neutralization remained unclear. We hypothesized that after vaccination at 1 day of age (DOA), the MB-1 virus penetrates and resides in local macrophages that are then distributed to lymphoid organs. Furthermore, MB-1’s ability to survive within macrophages ensures its survival during effective MDA protection. PCR analysis of lymphoid organs from chicks with MDA, vaccinated on 1 DOA, demonstrated that the MB-1 virus was identified at low levels solely in the spleen pre-14 days of age. Fourteen days after vaccination, the virus was identified using PCR in the bursa, with viral levels increasing with time. The possible delay in viral colonization of the bursa was attributed to the presence of anti-IBDV capsid VP2 maternal IgA and IgY in the bursa interstitium. These indicate that during the period of high MDA levels, a small but viable MB-1 viral reservoir was maintained in the spleen, which might have served to colonize the bursa after MDA levels declined. Thereafter, individual immunization of chicks against Gumboro disease was achieved

    Within-colony genetic diversity differentially affects foraging, nest maintenance, and aggression in two species of harvester ants

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    Abstract There is accumulating evidence that genetic diversity improves the behavioral performance and consequently the fitness in groups of social animals. We examined the behavioral performance of colonies of two co-occurring, congeneric harvester ant species (Messor arenarius and a non-described Messor sp.) in fitness-related behaviors, pertaining to foraging performance, nest maintenance, and aggression. We linked these behaviors to the colonial genetic diversity, by genotyping workers, using six and five microsatellite markers for M. arenarius and M. sp., respectively. Correlations of genetic diversity with colony performance and aggression level contrasted between the two species. In M. arenarius, genetic diversity was correlated with foraging performance and nest maintenance but not with the overall aggression level, while in M. sp., genetic diversity was correlated with the overall aggression level, but not with foraging performance or nest maintenance. The two species exhibited similar specific aggression levels, with higher aggression shown towards heterospecifics and lower towards non-nestmate conspecifics and nestmates. However, M. sp. workers displayed a tendency to interact for longer with heterospecifics than did M. arenarius. We speculate that the different foraging strategies, group vs. individual foraging, and possibly also the different mating systems, contribute to the differences found in behavior between the two species

    Surgical management of complete procidentia in a female patient with bladder exstrophy-epispadias complex: Case report and literature review

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    We herein describe the operative approach of a postmenopausal woman with a history of surgically corrected congenital bladder exstrophy-epispadias who presented with long-standing complete procidentia. The patient was initially treated by laparoscopic sacral colpopexy in conjunction with a modified Elevate mesh kit anterior vaginal repair with and posterior vaginal wall repair in the form of native tissue suture plication repair. Her prolapse recurred 8 months' later due to a detachment of the mesh at the level of the promontorium. During the second-look laparoscopy, a resuspension of this mesh was deemed unsatisfactory; therefore, with patients' consent, a successful colpocleisis was performed. This case report emphasizes the complexity of pelvic organ prolapse (POP) in the context of a bladder exstrophy-epispadias complex. These women are more likely to fail the more conventional current surgical treatments for POP, coercing to revert to colpocleisis

    Endometriosis involving the sciatic nerve: A case report of isolated endometriosis of the sciatic nerve and review of the literature

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    Endometriosis is a common gynecological condition which affects 5–10% of women of reproductive age and up to 50% of women with pelvic pain and infertility. The most commonly affected areas are the pelvic peritoneum, ovaries and rectovaginal septum. Isolated endometriosis of the sciatic nerve is very rare. Our patient suffered from worsening right hip and buttock pain with severe exacerbation during menstruation. Several different imaging modalities (ultrasound of her pelvis and right hip, as well as X-rays and computed tomography scans of her right hip and lumbosacral spine) failed to identify any pathology. Magnetic resonance imaging scans of her pelvis revealed a 3.5 cm endometriotic lesion over the pelvic segment of her right sciatic nerve. Following a multidisciplinary discussion, the patient underwent laparoscopic excision of endometriosis. The patient recovered well from her surgery. She successfully conceived with in vitro fertilization 3 years after her surgery, following a failed course of Clomid (Clomiphene citrate) for ovulatory dysfunction
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