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uality indices.We report the clinical, biochemical and genetic findings from a Spanish boy of Caucasian origin who presented with fever-dependent RALF (recurrent acute liver failure) and osteogenesis imperfecta (OI). Whole-exome sequencing (WES) uncovered two compound heterozygous variants in NBAS (c.[1265 T > C];[1549C > T]p.[(Leu422Pro)];[(Arg517Cys)]), and a heterozygous variant in P4HB (c.[194A > G];[194=]p.[(Lys65Arg)];[(Lys65=)]) that was transmitted from the clinically unaffected mother who was mosaic carrier of the variant. Variants in NBAS protein have been associated with ILFS2 (infantile liver failure syndrome-2), SOPH syndrome (short stature, optic nerve atrophy, and Pelger-Huët anomaly syndrome), and multisystem diseases. Several patients showed clinical manifestations affecting the skeletal system, such as osteoporosis, pathologic fractures and OI. Experiments in the patient's fibroblasts demonstrated that mutated NBAS protein is overexpressed and thermally unstable, and reduces the expression of MGP, a regulator of bone homeostasis. Variant in PDI (protein encoded by P4HB) has been associated with CLCRP1 (Cole-Carpenter syndrome-1), a type of severe OI. An increase of COL1A2 protein retention was observed in the patient's fibroblasts. In order to study if the variant in P4HB was involved in the alteration in collagen trafficking, overexpression experiments of PDI were carried out. https://www.selleckchem.com/products/acy-775.html These experiments showed that overexpression of mutated PDI protein produces an increase in COL1A2 retention. In conclusion, these results corroborate that the variants in NBAS are responsible for the liver phenotype, and demonstrate that the variant in P4HB is involved in the bone phenotype, probably in synergy with NBAS variants.Transgender youth with autism spectrum disorder (ASD) may experience complex relationships with eating because of cognitive rigidity, including inflexible thoughts and behaviors around food and/or their body. Yet, there is no research that provides guidance to clinicians providing care for youth with the unique triad of gender dysphoria, ASD, and disordered eating. This case series discusses trends in presentation and management of three cases from a multidisciplinary gender care clinic. All three individuals endorsed rigid thoughts around food and/or body appearance, which affected nutritional intake; however, their presenting eating disorder behaviors, described etiology for disordered thoughts, diagnosis, and level of engagement in a multidisciplinary treatment model varied. Based on these cases we hypothesize several strategies including early engagement with ASD specialists, proactive screening and discussions around eating with all transgender youth with suspected/confirmed ASD, continued discussions throughout care, as disordered eating behaviors may change after the initiation of gender-affirming medications, dietician visits early in treatment regardless of endorsed thoughts and behaviors, tailored management to the unique needs of each individual and their eating thoughts/behaviors, and consistent multidisciplinary collaboration. The purpose of the present study was to conduct the first longitudinal investigation using accelerometers to assess physical activity behavior change during individuals' acute transition out of high school. Participants in the current investigation were a part of a prospective cohort study called the MovingU Study. Participants were 163 adolescents (M = 16.9 ± .5; n= 88 females) recruited at the beginning of their final year at high school, with follow-up at 6 and 18 months. Participants wore the ActiGraph Link for 7 days at each assessment period. Results from the mixed-effects models found no significant differences in moderate-to-vigorous physical activity or total physical activity between baseline and follow-up at 6 months (Estimates= 1.91 and-2.26, p's > .05), respectively; however, significant differences in both moderate-to-vigorous physical activity and total physical activity between baseline and follow-up at 18 months after the transition out of highschool (Estimate=-123.62 and-15.38, p's < .01). Current findings provide additional compelling data to show precipitous declines in physical activity as adolescents transition out of high school and into emerging adulthood. Continued efforts to maintain or increase physical activity during adolescence and the prevention of physical activity declines as they enter emerging adulthood could have important public health benefits. Current findings provide additional compelling data to show precipitous declines in physical activity as adolescents transition out of high school and into emerging adulthood. Continued efforts to maintain or increase physical activity during adolescence and the prevention of physical activity declines as they enter emerging adulthood could have important public health benefits. To capture and compare the perspectives of parents and their transgender and gender expansive (TGE) adolescents during pivotal moments of gender identity development and to report the level of adjustment during these parental experiences. We utilized a mixed-methods approach and interviewed 36 parents and 23 TGE adolescents at our Gender Clinic. Parents retrospectively identified "pivotal moments" in their child's gender identity development and rated their levels of support and adjustment. Adolescents independently rated their parent's level of support during these moments to allow for comparative analyses. The supportive behavior most frequently identified by parents was connecting the adolescent to services, while adolescents considered their parents' use of the affirmed name or pronouns to be most supportive. We found a positive correlation between the parents' perceptions of support and those of TGE adolescents during pivotal moments (r= 0.4, p < 0.001). Adolescents rated the degree of parental support to be 3.73 points (95% confidence interval [2.67,4.8], p < 0.001) higher on a Likert scale than corresponding ratings provided by parents in a generalized estimating equation model. Parents experienced moderate need for adjustment during these moments. Providers may use these findings to guide parents toward gender affirmative behaviors that may protect against negative mental health outcomes. Providers may use these findings to guide parents toward gender affirmative behaviors that may protect against negative mental health outcomes.
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