Influence of Health Education on Podiatric Knowledge, Self-care, and Conditions in Adults With Diabetes Mellitus: A Systematic Review.

OBJECTIVE: To determine if health education has an influence on podiatric knowledge, self-care, and conditions in adults with diabetes mellitus. DATA SOURCES: The authors conducted a literature search for Spanish-, English-, and Portuguese-language publications using PubMed, Scopus, Dialnet, and CUIDEN. STUDY SELECTION: Selected keywords related to diabetes, health education, (diabetic) foot, and self-care were searched, and the titles, abstracts, and relevant full-text articles were screened. Thirteen studies were selected with a total of 1,296 participants. Four were randomized controlled trials, and nine were quasi-experimental studies. DATA EXTRACTION: Data pertaining to preventive intervention and study outcomes were extracted. DATA SYNTHESIS: The preventive interventions used varied from traditional educational workshops and one-on-one patient education to new technological strategies. Three different outcomes were evaluated in each study: podiatric knowledge (n = 4), foot self-care (n = 13), and foot problems (n = 2). CONCLUSIONS: Health education interventions increase podiatric self-care in adults with diabetes mellitus. These interventions appear to contribute positively to foot health and podiatric knowledge.

Are Spanish Surveys Ready to Detect the Social Factors of Obesity?

The social origins of obesity are now recognised: a problem that is initially biological is today a public health problem with a social origin. This paper raises the question of whether the official statistical sources used to understand changes in diet are able to detect this shift in analysis. After reviewing the social factors that explain obesity, we examine the official Spanish statistics that can inform about dietary changes: the ENS National Health Survey, the EPF Family Budget Survey, and the EET Time Use Survey, all carried out by the Spanish Statistical Office. All of them include socio-demographic variables and some locational variables. However, the lack of health variables in the economic survey and the lack of social variables in the health survey prevent the gathering of reliable scientific evidence to offer solid support in stopping the obesity epidemic. Food has become particularly important as one of the main areas where unhealthy decisions and choices involve high risk; the situation also demonstrates the relationship between social inequality and obesity. Obesity is now understood in a radically different way and the origin of the problem lies in social and cultural factors. The current surveys do not provide the resources to capture the social causality of obesity, but slight modifications would help expand their capabilities and offer reliable scientific evidence to stop the obesity epidemic.

Transcription Factor 4 loss-of-function is associated with deficits in progenitor proliferation and cortical neuron content.

Transcription Factor 4 (TCF4) has been associated with autism, schizophrenia, and other neuropsychiatric disorders. However, how pathological TCF4 mutations affect the human neural tissue is poorly understood. Here, we derive neural progenitor cells, neurons, and brain organoids from skin fibroblasts obtained from children with Pitt-Hopkins Syndrome carrying clinically relevant mutations in TCF4. We show that neural progenitors bearing these mutations have reduced proliferation and impaired capacity to differentiate into neurons. We identify a mechanism through which TCF4 loss-of-function leads to decreased Wnt signaling and then to diminished expression of SOX genes, culminating in reduced progenitor proliferation in vitro. Moreover, we show reduced cortical neuron content and impaired electrical activity in the patient-derived organoids, phenotypes that were rescued after correction of TCF4 expression or by pharmacological modulation of Wnt signaling. This work delineates pathological mechanisms in neural cells harboring TCF4 mutations and provides a potential target for therapeutic strategies for genetic disorders associated with this gene.

Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder.

The Reelin-DAB1 signaling pathway plays a crucial role in regulating neuronal migration and synapse function. Although many rare heterozygous variants in the Reelin gene (RELN) have been identified in patients with autism spectrum disorder (ASD), most variants are still of unknown clinical significance. Also, genetic data suggest that heterozygous variants in RELN alone appear to be insufficient to cause ASD. Here, we describe the identification and functional characterization of rare compound heterozygous missense variants in RELN in a patient with ASD in whom we have previously reported hyperfunctional mTORC1 signaling of yet unknown etiology. Using iPSC-derived neural progenitor cells (NPCs) from this patient, we provide experimental evidence that the identified variants are deleterious and lead to diminished Reelin secretion and impaired Reelin-DAB1 signal transduction. Also, our results suggest that mTORC1 pathway overactivation may function as a second hit event contributing to downregulation of the Reelin-DAB1 cascade in patient-derived NPCs, and that inhibition of mTORC1 by rapamycin attenuates Reelin-DAB1 signaling impairment. Taken together, our findings point to an abnormal interplay between Reelin-DAB1 and mTORC1 networks in nonsyndromic ASD.

Dysfunctional mTORC1 Signaling: A Convergent Mechanism between Syndromic and Nonsyndromic Forms of Autism Spectrum Disorder?

Whereas autism spectrum disorder (ASD) exhibits striking heterogeneity in genetics and clinical presentation, dysfunction of mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway has been identified as a molecular feature common to several well-characterized syndromes with high prevalence of ASD. Additionally, recent findings have also implicated mTORC1 signaling abnormalities in a subset of nonsyndromic ASD, suggesting that defective mTORC1 pathway may be a potential converging mechanism in ASD pathology across different etiologies. However, the mechanistic evidence for a causal link between aberrant mTORC1 pathway activity and ASD neurobehavioral features varies depending on the ASD form involved. In this review, we first discuss six monogenic ASD-related syndromes, including both classical and potentially novel mTORopathies, highlighting their contribution to our understanding of the neurobiological mechanisms underlying ASD, and then we discuss existing evidence suggesting that aberrant mTORC1 signaling may also play a role in nonsyndromic ASD.