Effects of growth hormone on body proportions in Turner syndrome compared with non-treated patients and normal women

Background: the majority of anthropometric assessments in Turner syndrome (TS) patients has focused on height. AIM: To analyze body proportions in young adult TS patients either treated or not treated with rhGH, and to compare them with a group of age-matched healthy women. Subjects and methods: Standing height, sitting height, weight, foot and leg lengths, arm span, head circumference, biliac and bi-acromial diameters were measured in 52 non-treated TS patients, 30 treated with rhGH and 133 healthy women. Results: Age at the start of rhGH therapy varied from 7.8 to 15.1 yr (10.0 +/- 1.3 yr), the duration of treatment from 2.8 to 8.2 yr (3.7 +/- 1.5 yr) and the mean recombinant human GH (rhGH) dose was 0.42 mg/kg/week (from 0.32 to 0.50 mg/kg/week). Non-treated patients did not show any difference in anthropometric variables when compared with the treated ones, except for hand length (p=0.02) and height (p=0.05), which were increased in the treated group. All anthropometric variables, except head circumference, were different when comparing TS patients (either treated or not) with age-matched healthy women. Conclusion: Brazilian TS patients either treated or not with rhGH showed almost no differences in terms of their body proportions. This result is probably due to the late age at the start of treatment, and/or the short period of rhGH administration. Hand length was different between the groups, showing the importance of including the extremities in body proportion assessment during rhGH treatment of TS patients. (J. Endocrinol. Invest. 33: 691-695, 2010) (C) 2010, Editrice KurtisConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Univ Estadual Campinas, Dept Paediat, Fac Med Sci, BR-13083970 Campinas, SP, BrazilUniversidade Federal de São Paulo, UNIFESP EPM, Dept Paediat, São Paulo, BrazilUniversidade Federal de São Paulo, UNIFESP EPM, Dept Paediat, São Paulo, BrazilWeb of Scienc

Development of reaching during mid-childhood from a Developmental Systems perspective

Inspired by the Developmental Systems perspective, we studied the development of reaching during mid-childhood (5-10 years of age) not just at the performance level (i.e., endpoint movements), as commonly done in earlier studies, but also at the joint angle level. Because the endpoint position (i.e., the tip of the index finger) at the reaching target can be achieved with multiple joint angle combinations, we partitioned variability in joint angles over trials into variability that does not (goal-equivalent variability, GEV) and that does (non-goal-equivalent variability, NGEV) influence the endpoint position, using the Uncontrolled Manifold method. Quantifying this structure in joint angle variability allowed us to examine whether and how spatial variability of the endpoint at the reaching target is related to variability in joint angles and how this changes over development. 6-, 8- and 10-year-old children and young adults performed reaching movements to a target with the index finger. Polynomial trend analysis revealed a linear and a quadratic decreasing trend for the variable error. Linear decreasing and cubic trends were found for joint angle standard deviations at movement end. GEV and NGEV decreased gradually with age, but interestingly, the decrease of GEV was steeper than the decrease of NGEV, showing that the different parts of the joint angle variability changed differently over age. We interpreted these changes in the structure of variability as indicating changes over age in exploration for synergies (a family of task solutions), a concept that links the performance level with the joint angle level. Our results suggest changes in the search for synergies during mid-childhood development

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, “burdenMC,” which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.2, 95% CI: 3.5–5.3, P < 10−6). BTNL8 encodes an intestinal epithelial regulator of Vγ4+γδ T cells implicated in regulating gut homeostasis. Enrichment was exclusive to MIS-C, being absent in patients with COVID-19 or bacterial disease. Using an available functional test for BTNL8, rare variants from a larger cohort of MIS-C patients (n = 835) were tested which identified eight variants in 18 patients (2.2%) with impaired engagement of Vγ4+γδ T cells. Most of these variants were in the B30.2 domain of BTNL8 implicated in sensing epithelial cell status. These findings were associated with altered intestinal permeability, suggesting a possible link between disrupted gut homeostasis and MIS-C-associated enteropathy triggered by SARS-CoV-2