Search Results (9)

Background: Low birth weight in newborns is of multifactorial origin (fetal, maternal, placental, and environmental factors), and in one-third of cases, the cause is of unknown origin, with high infant morbidity and mortality. The main treatment for regaining weight and height in children with low birth weight is the application of growth hormones. However, their role as a protective factor to prevent an increase in body composition and the development of metabolic diseases is still poorly understood. Methodology: A case–control study was conducted in a cohort of patients consulted at the CES Pediatric Endocrinology Clinic, Medellín, Colombia, between 2008 and 2018. We evaluated sociodemographic and clinical variables. Additionally, the identification of differential patterns of genomic methylation between cases (treated with growth hormone) and controls (without growth hormone treatment) was performed. The groups were compared using Fisher’s exact test for qualitative variables and Student’s t-test for the difference in means in independent samples. The correlation was evaluated with the Pearson coefficient. Results: Regarding clinical manifestations, body mass index (BMI) was higher in children who did not receive growth hormone treatment, higher doses of growth hormone treatment helped reduce body mass index (R: −0.21, and p = 0.067), and the use of growth hormone was related to a decrease in triglyceride blood concentrations (p = 0.06); these results tended towards significance. Regarding genome-wide methylation patterns, the following genes were found to be hypermethylated: MDGA1, HOXA5, LINC01168, ZFYVE19, ASAH1, MYH15, DNAJC17, PAMR1, MROCKI, CNDP2, CBY2, ZADH2, HOOK2, C9orf129, NXPH2, OSCP1, ZMIZ2, RUNX1, PTPRS, TEX26, EIF2A4K, MYO1F, C2orf69, and ZSCAN1. Meanwhile, the following genes were found hypomethylated: C10orf71-AS1, ZDHHC13, RPL17, EMC4, RPRD2, OBSCN-AS1, ZNF714, MUC4, SUGT1P4, TRIM38, C3, SPON1, NGF-AS1, CCSER2, P2RX2, LOC284379, GGTA1, NLRP5, OR51A4, HLA-H, and TTLL8. Conclusions: Using growth hormone as a treatment in SGA newborns helps regain weight and height. Additionally, it could be a protective factor against the increase in adolescent body composition. Full article

CMTM6 is a membrane protein that acts as a regulator of PD-L1, maintaining its expression on the cell surface, and can prevent its lysosome-mediated degradation. It is unknown if CMTM6 is present in the plasma of patients with cervical cancer, and if it has non-canonical subcellular localizations in cell lines derived from cervical cancer. Our objective was to determine whether CMTM6 is found in plasma derived from cervical cancer patients and its subcellular localization in cell lines. Patient plasma was separated into exosome-enriched, exosome-free, and total plasma fractions. The levels of CMTM6 in each fraction were determined using ELISA and Western blot. Finally, for the cellular model, HeLa, SiHa, CaSki, and HaCaT were used; the subcellular locations of CMTM6 were determined using immunofluorescence and flow cytometry. Soluble CMTM6 was found to be elevated in plasma from patients with cervical cancer, with a nearly three-fold increase in patients (966.27 pg/mL in patients vs. 363.54 pg/mL in controls). CMTM6 was preferentially, but not exclusively, found in the exosome-enriched plasma fraction, and was positively correlated with exosomal PD-L1; CMTM6 was identified in the membrane, intracellular compartments, and culture supernatant of the cell lines. These results highlight that CMTM6, in its various presentations, may play an important role in the biology of tumor cells and in immune system evasion. Full article

DNAM-1 (CD226) is an activating receptor expressed in CD8+ T cells, NK cells, and monocytes. It has been reported that two SNPs in the DNAM-1 gene, rs763361 C>T and rs727088 G>A, have been associated with different autoimmune diseases; however, the role of DNAM-1 in ankylosing spondylitis has been less studied. For this reason, we focused on the study of these two SNPs in association with ankylosing spondylitis. For this, 34 patients and 70 controls were analyzed using endpoint PCR with allele-specific primers. Our results suggest that rs763361 C>T is involved as a possible protective factor under the CT co-dominant model (OR = 0.34, 95% CI = 0.13–0.88, p = 0.022) and the CT + TT dominant model (OR = 0.39, 95% CI = 0.17–0.90, p = 0.025), while rs727088 G>A did not show an association with the disease in any of the inheritance models. When analyzing the relationships of the haplotypes, we found that the T + A haplotype (OR = 0.31, 95% CI = 0.13–0.73, p = 0.0083) is a protective factor for developing the disease. In conclusion, the CT and CT + TT variants of rs763361 C>T and the T + A haplotype were considered as protective factors for developing ankylosing spondylitis. Full article

In a Christmas 2017 interview with the British magazine Fortean Times, the celebrated Mexican filmmaker Guillermo del Toro described ‘Hansel and Gretel’, ‘the original Cinderella’, and ‘Little Red Riding Hood’ as ‘a horror story’, before affirming that ‘horror and the fairy tale walk hand in hand’ (del Toro 2017, p [...] Full article

What happens when we imagine the unimaginable? This article compares recent films inspired by H. P. Lovecraft’s Cthulhu Mythos with that author’s original early 20th century pulp horror stories. In Guillermo del Toro’s films Pacific Rim and Hellboy, monsters that would have been obscured to protect Lovecraft’s readers are now fully revealed for Hollywood audiences. Using the period-appropriate theories of Rudolf Otto on the numinous and Sigmund Freud on the uncanny, that share Lovecraft’s troubled history with racist othering, I show how modern adaptations of Lovecraft’s work invert central features of the mythos in order to turn tragedies into triumphs. The genres of Science Fiction and Horror have deep commitments to the theme of otherness, but in Lovecraft’s works otherness is insurmountable. Today, Hollywood borrows the tropes of Lovecraftian horror but relies on bridging the gap between humanity and its monstrous others to reveal a higher humanity forged through difference and diversity. This suggests that otherness in modern science fiction is a means of reconciliation, a way for the monsters to be defeated rather than the source of terror as they were in Lovecraft’s stories. Full article

Fatty acids and glucose are the main bioenergetic substrates in mammals. Impairment of mitochondrial fatty acid oxidation causes mitochondrial myopathy leading to decreased physical performance. Here, we report that haploinsufficiency of ADCK2, a member of the aarF domain-containing mitochondrial protein kinase family, in human is associated with liver dysfunction and severe mitochondrial myopathy with lipid droplets in skeletal muscle. In order to better understand the etiology of this rare disorder, we generated a heterozygous Adck2 knockout mouse model to perform in vivo and cellular studies using integrated analysis of physiological and omics data (transcriptomics–metabolomics). The data showed that Adck2+/− mice exhibited impaired fatty acid oxidation, liver dysfunction, and mitochondrial myopathy in skeletal muscle resulting in lower physical performance. Significant decrease in Coenzyme Q (CoQ) biosynthesis was observed and supplementation with CoQ partially rescued the phenotype both in the human subject and mouse model. These results indicate that ADCK2 is involved in organismal fatty acid metabolism and in CoQ biosynthesis in skeletal muscle. We propose that patients with isolated myopathies and myopathies involving lipid accumulation be tested for possible ADCK2 defect as they are likely to be responsive to CoQ supplementation. Full article

Nostalgia and retro are phenomena of modernism and modernization that are currently booming. This goes for political decision-making processes as much as for popular culture where retro aesthetics is the dominant mode of design: Both appear driven by ‘longings for a time that never was.’ While research on nostalgia and retro abound, nostalgia still remains a vague and undertheorized concept seemingly identical with retro. Engaging the ways in which Damien Chazelle’s 2016 movie La La Land and Guillermo del Toro’s The Shape of Water of 2017 produce and interrogate affects, this essay shows how film allows us to make distinctions that the proliferating research on nostalgia and retro often fail to deliver. As we zoom in on how both films reference iconic moments in film history, it becomes evident that retro aesthetics operates in distinctively diverse manners. While La La Land interrogates cinema’s “nostalgia for nostalgia”, The Shape of Water reclaims nostalgia as a mode of social bonding. In this way, both movies foreground how the dynamics of nostalgia, at best, moves forward, not back. Film studies, in turn, can shed considerable light on how both nostalgia and retro work—and why they sell so well. Full article

This transnational study examines representations of and by children—whether literal wounds, psychological ones, or wounds transmitted through drawings—that manifest their capacity for unexpected resistance and justice. It considers the Mexican-American director Guillermo del Toro’s use of hauntings and wounds to explore violence during the 1936–1939 Spanish Civil War in the film El espinazo del diablo [The Devil’s Backbone] (2001) and its intersections on strategic and theoretical levels with the traumatic in archival children’s drawings produced during the 1976–1983 Argentine military dictatorship. The drawings illustrate the violence perpetrated against the child artists’ families and were produced in exile for the human rights organization COSOFAM. Utilizing diverse theories from film and trauma studies, among others, this article analyzes key scenes in El espinazo exhibiting commonalities with representations of traumatic violence in the children’s drawings, revealing that, in fiction and in fact, a strategic “showing” of the traumatic wound is designed to remind others of the imperative to intervene in situations of extreme violence, to appeal to/for justice, and to effectively testify from the inside. Full article

Though it is now a decade since its release, Guillermo del Toro’s Pan’s Labyrinth (2006) remains a work of filmic art which plays upon our deep-rooted and mercurial relationship with fairy tales and folklore. By turns beautiful and grotesque, Pan’s Labyrinth is a complex portrait of the clash between Ofelia’s fairy tale world and that of the brutal adults around her. This article will provide an analysis of the juxtaposition of the film’s imagery of closed/open circles, their respective realms, and how Ofelia moves between the two. I will argue that these aspects create an unusual relationship between the fairy tale universe and the physical one, characterized by simultaneous displacement and interdependency. Ofelia acts as a mediatrix of these spheres, conforming to neither the imposed rules of her historical reality nor the expected structural rules of fairy tales, and this refusal ultimately allows her transcendence from the circumscribed realm of the liminal into Victor Turner’s “liminoid” space, escaping the trap of binarism. Full article