Search Results (174)

Alagille syndrome (ALGS) is a multisystem disorder characterized by a paucity of intrahepatic bile ducts and cholestasis, often requiring liver transplantation before adulthood. Due to the lack of genotype–phenotype correlation, case series are essential to understand disease presentation and prognosis. Data on Mexican ALGS patients are limited. Therefore, we aimed to characterize a large series of Mexican patients by consolidating cases from major institutions and independent geneticists, with the goal of generating one of the most comprehensive cohorts in Latin America. We retrospectively analyzed clinical records of pediatric ALGS patients, focusing on demographics, clinical features, laboratory and imaging results, biopsy findings, and transplant status. Genetic testing was performed for all cases without prior molecular confirmation. We identified 52 ALGS cases over 13 years; 22 had available clinical records. Of these, only 6 had molecular confirmation at study onset, prompting genetic testing in the remaining 16. We identified six novel JAG1 variants and several previously unreported phenotypic features. A liver transplantation rate of 13% was observed in the cohort. This study represents the largest molecularly confirmed ALGS cohort in Mexico to date. Novel genetic and clinical findings expand the known spectrum of ALGS and emphasize the need for improved therapies, such as IBAT inhibitors, which may alleviate symptoms and reduce the need for transplantation. Full article

While the gut microbiota of obese children in Mexico has been studied, its relationship with depressive and anxiety symptoms in obese adults remains unexplored. The aim of this study was to describe the gut microbiota profile of Mexican adults with obesity and its association with depression and anxiety. We sequenced the V3-V4 region of the 16S rRNA gene from stool samples of obese adults categorized into four groups: control (OCG), with depressive symptoms (OD), with anxiety symptoms (OAx), or with both (ODAx). Alpha diversity was assessed using t-tests, beta diversity was assessed with PERMANOVA, and taxonomic differences was assessed with LEfSe. Associations between bacterial genera and clinical variables were analyzed using the Maaslin2 library. Bacteroidota was the most prevalent phylum, and Prevotella was the dominant enterotype across all groups. Although overall diversity did not differ significantly, 30 distinct taxonomic biomarkers were identified among groups as follows: 4 in OCG (Firmicutes), 5 in OD (Firmicutes, Bacteroidota), 13 in OAx (Firmicutes, Bacteroidetes, Fusobacteroidota, Proteobacteria), and 8 in ODAx (Firmicutes). This is the first study to identify distinct gut microbiota profiles in obese Mexican adults with depressive and anxiety symptoms. These findings suggest important microbial biomarkers for improving the diagnosis and treatment of mental health conditions in obesity. Full article

The role of the gut microbiota in obesity has been extensively studied worldwide, but research in Mexican populations is still limited. This is particularly important given the high obesity rates in Mexico, despite a traditional diet rich in diverse, plant-based foods. We conducted a systematic review of studies examining the gut microbiota in obese Mexican children and adults. The literature search was conducted in the Medline, CINAHL, SciELO, Redalyc and Web of Science databases. The included studies addressed topics such as obesity in different Mexican subgroups (e.g., adults, children, rural communities), dietary behaviors and interventions, traditional dietary patterns, and gut microbiota composition. Of the 2332 datasets, 19 studies met the inclusion criteria. These studies indicated that obesity in Mexican individuals is associated with specific changes in the gut microbiota, including decreased bacterial diversity and shifts in the abundance of key microbial genera. Differences were found between age groups and regions. This review highlights a clear association between gut microbiota composition and obesity in the Mexican population. Further research is essential to investigate how the traditional Mexican diet may influence gut health and serve as a potential tool to treat obesity. Full article

Single-nucleotide polymorphisms (SNPs) in antioxidant genes could influence redox regulation from early life. We aimed to assess the direct and modulatory effects of SNPs in antioxidant genes (SOD2 rs4880, GPX1 rs1050450, GPX7 rs835337, CAT rs1001179) on the relationships among obesity-related oxidative stress markers in Mexican children. Anthropometric data of 2946 unrelated children were analyzed in this cross-sectional study. SNPs were genotyped using TaqMan assay. Serum total antioxidant capacity (sTAC) and oxidative stress markers (thiobarbituric acid reactive substances [TBARS, as lipid peroxidation], and protein carbonyl [PC]) were assessed. Although no SNPs were associated with obesity (p ≥ 0.125), both sTAC (p = 0.001) and TBARS (p = 0.015) were positively associated with it. A negative relationship was also observed between sTAC and TBARS (p < 0.001). SOD2 rs4880 was negatively associated with TBARS, while GPX1 rs1050450 was inversely associated with both TBARS and PC levels (p ≤ 0.036). The inverse association between sTAC and TBARS remained significant only in non-carriers of SOD2 rs4880 (p = 0.003) and GPX1 rs1050450 (p = 0.002). Our data evidence that sTAC and TBARS are associated with obesity, showing a negative relationship in Mexican children who are non-carriers of SOD2 rs4880 and GPX1 rs1050450. Full article

B-lineage acute lymphoblastic leukemia (B-ALL) is classified into more than 20 molecular subtypes, and next-generation sequencing has facilitated the identification of these with high sensitivity. Bulk RNA-seq analysis of bone marrow was realized to identify molecular subtypes in Mexican pediatric patients with B-ALL. High hyperdiploidy (27.3%) was the most frequent molecular subtype, followed by DUX4 (13.6%), TCF3::PBX1 (9.1%), ETV6::RUNX1 (9.1%), Ph-like (9.1%), ETV6::RUNX1-like (9.1%), PAX5alt (4.5%), Ph (4.5%), KMT2A (4.5%), and ZNF384 (4.5%), with one patient presenting both the PAX5alt and low hypodiploidy subtypes (4.5%). The genes TYK2, SEMA6A, FLT3, NRAS, SETD2, JAK2, NT5C2, RAG1, and SPATS2L harbor deleterious missense variants across different B-ALL molecular subtypes. The Ph-like subtype exhibited mutations in STAT2, ADGRF1, TCF3, BCR, JAK2, and NRAS with overexpression of the CRLF2 gene. The DUX4 subtype showed mutually exclusive missense variants in the PDGRFA gene. Here, we have demonstrated the importance of using RNA-seq to facilitate the differential diagnosis of B-ALL with successful detection of gene fusions and mutations. This will aid both patient risk stratification and precision medicine. Full article

Background/Objectives: Screen-related parenting practices (e.g., restriction, coviewing) influence the way children use screen devices. Although children start using screen devices (e.g., televisions [TV], tablets) in the first few years of life, rigorously developed measures of screen-related parenting practices for parents of toddlers do not exist. The objective of this study was to develop culturally and contextually relevant survey measures of screen-related parenting practices for use in Mexican American families with toddlers. Methods: Measures were developed using an exploratory sequential mixed methods (qualitative → quantitative) approach. Mexican American mothers of toddlers (15–26 months of age) participated in semi-structured interviews. Using the interview findings, domains of parenting practices across screen device types were identified, and survey items were developed. Items were administered by phone to 384 Mexican American mothers. Analyses included evaluation of the factor structure and psychometric properties of nine domains of parenting practices and evaluations of correlations between each scale and demographic characteristics. Results: Factor analyses supported a one-factor solution for each parenting practice as follows: Restrict TV Time (8 items), Coview TV (10 items), Behavioral Regulation with TV (12 items), Restrict Mobile Device Time (8 items); Coview Mobile Devices (10 items); Behavioral Regulation with Mobile Devices (16 items), Restrict Screen Content (8 items), Allow Screen Use Around Sleep (6 items), and Allow Screen Use While Eating (6 items). The reliabilities were acceptable (Cronbach’s alphas > 0.80). Hispanic acculturation, maternal age, and child age were correlated with many of the scales of parenting practices. Conclusions: The measures developed in this study offer a way to evaluate the use and impact of screen-related parenting practices in Mexican American families with toddlers. The use of these measures will enable investigators to identify relationships among parenting practices, screen use, and child well-being, which could inform the design of early childhood interventions promoting healthy screen use in this population. Full article

Background: Childhood and adolescent obesity often coexist with micronutrient deficiencies and metabolic alterations, particularly in marginalized communities. Objectives: This cross-sectional study evaluated the biochemical, anthropometric, and dietary characteristics of 55 children and adolescents (ages 4–13) from Tlaltizapán, Mexico, to identify the early metabolic risk factors associated with excess weight. Methods: Nutritional intake was assessed through six-day dietary recalls and analyzed for adequacy against the national reference values. Anthropometric and biochemical indicators—including the BMI-for-age Z-score, waist-to-height ratio (WHtR), lipid profile, and plasma amino acid levels—were stratified by age and weight status. Results: Overall, 36.4% of participants were overweight or obese. Alarmingly, 89.4% of children and 94.1% of adolescents had low HDL levels, regardless of their BMIs. Several participants with a normal BMI showed elevated WHtR, triceps skinfold, and plasma branched-chain amino acids, suggesting hidden metabolic risks. The dietary analysis revealed an excess intake of sugars, proteins, and fats, alongside insufficient fiber, vitamins, and minerals. The adolescents had poorer adherence to dietary recommendations than children. Conclusions: These findings underscore the limitations of BMI alone and support the use of WHtR, skinfolds, and biochemical markers to detect preclinical obesity. Urgent, targeted nutritional strategies are needed in semi-rural areas to address the double burden of obesity and undernutrition. Full article

Specialized mental health services (SMHS) should be accessible to all populations. This study investigated the accessibility of public SMHS for children and adolescent patients, as well as their caregivers, in Mexico. A cross-sectional survey was conducted with 400 patient–caregiver dyads receiving care at two primary SMHS facilities. The survey included indicators within four dimensions of accessibility: (1) organizational entry into SMHS; (2) organizational processes within SMHS; (3) ecological factors; (4) financial aspects. Additionally, six outcome variables were explored, including perceived health conditions and quality of care indicators. A principal component analysis (PCA) was utilized to construct four accessibility indices. Subsequently, multiple linear regression models were applied to examine the relationship between these accessibility indices and the outcome variables. Several indicators yielded notable results. The average emergency ward waiting time was 74.3 min (SD = 95.99), the post-hospitalization wait time was 1.28 weeks (SD = 1.85), and the average medical costs amounted to 962.6 Mexican pesos (SD = 2555.1). Several of the tested relationships between accessibility indices and outcome variables were statistically significant; organizational processes within SMHS and financial indices had a higher number of these significant relationships. These findings highlight the significant challenges in improving accessibility to public SMHS for children and adolescents in Mexico. Full article

Aflatoxin M1 (AFM1), a toxic metabolite of aflatoxin B1 (AFB1), is commonly found in cow’s milk (CM) when dairy cattle consume contaminated feed. Chronic exposure to AFM1 poses serious health risks, particularly for children. This study aimed to quantify AFM1 levels in commercial CM available in Mexico and assess the associated carcinogenic risk across six age groups. A total of 23 milk samples were collected between March and July 2023 from supermarkets and convenience stores. AFM1 was measured using high-performance liquid chromatography (HPLC). Estimated daily intake (EDI), carcinogenic risk index (CRI), and Monte Carlo simulations (MCS) to model exposure were employed. AFM1 was detected in all samples, with 80% exceeding the legal limits set by Mexican and European regulations. The highest CRI values were observed in children aged 1–4 years (CRI > 5 × 10³), indicating an elevated risk. There were no statistically significant differences in AFM1 concentration among different milk or thermal treatments. A cluster analysis revealed patterns related to AFM1 content, price, and processing methods. The widespread detection of AFM1 raises a public health concern, especially for vulnerable populations. This underscores the need for targeted regulatory strategies and improved control of aflatoxins in the dairy production chain. Full article

Background/Objectives: Appetitive traits may contribute to early feeding challenges by shaping children’s emerging dietary patterns. While food approach traits have been linked to excess weight, their role in influencing food type and quality during toddlerhood remains underexplored. This study aimed to examine associations between appetitive traits and dietary patterns in children aged 12 to 36 months. Methods: This cross-sectional study collected data from a university hospital and the metropolitan area of Guadalajara, Mexico. A survey was conducted through direct interviews with primary caregivers, which included the Child Eating Behavior Questionnaire for Toddlers (CEBQ-T) and a qualitative food group frequency questionnaire. Dietary patterns were determined using principal component analysis. Statistical analyses were performed to identify associations between six appetitive traits and dietary patterns. Results: Three dietary patterns were identified: “Processed”, “Healthy” and “Dietary Transition/Modern Mexican”. Higher scores for Food Responsiveness and Emotional Overeating traits were associated with greater adherence to the Processed dietary pattern. Increased scores in Enjoyment of Food were associated with higher adherence to a Healthy dietary pattern. Children with higher scores in Food Fussiness exhibited lower adherence to the Healthy dietary pattern and were more likely to follow a Dietary Transition/Modern Mexican pattern. Between 12 and 36 months of age, appetitive traits may influence the development of more or less healthy dietary patterns. Conclusions: These findings underscore the importance of early identification of appetite-related behavioral tendencies as part of a broader understanding of feeding challenges in early childhood. Full article

Intimate partner violence (IPV) is the main cause of violence against women, especially in Mexico. However, the causes, consequences, and solutions related to IPV have not been well understood in this population. A total of five focus groups that included Mexican women who were victims of IPV were conducted to understand the causes, consequences, and solutions related to IPV, and a thematic analysis was performed. A total of 32 participants were included, with a median (range) age of 35 (24–70). The main causes mentioned by the participants were (a) cultural ones, among which Machismo, transgenerational violence, and cultural norms and gender roles were the main categories; (b) emotional causes, among which the lack of emotional abilities and emotional dependence were the main categories; and (c) educative causes, among which the lack of information about mental health, emotional abilities, IPV, and healthy relationships was reported. The main consequences mentioned were (a) psychological; (b) physical; (c) economic; (d) family-related, including impacts on children; and (e) legal, in relation to IPV complaints and children’s custody. Finally, the main solutions mentioned by the participants were (a) prevention through education, including educational programs to address mental health, IPV information, healthy relationships, and training in emotional skills; (b) cultural transformation; and (c) institutional strengthening, with this last solution including improving public policies, improving legal advice, and training for legal authorities. In conclusion, the causes, consequences, and solutions related to IPV were varied and included many instances; therefore, its prevention and solution should be performed at the inter-institutional and community levels, in which the promotion of emotional skills should play a fundamental role. Full article

Objective: To determine if prenatal socioeconomic status (SES) is associated with childhood working memory (WM), we constructed a more precise, integrative measure of WM using variables from multiple tasks that may provide a more representative measure of WM. Study Design: We used data from a prospective birth cohort study in Mexico City, Mexico, with N = 515 children aged 6–9 years. Prenatal SES was measured using the Mexican Association of Marketing Research and Public Opinion Agencies (AMAI) index. We created a latent variable for nonverbal working memory using multiple tasks (Cambridge Neuropsychological Test Automated Battery spatial working memory, operant chamber Delayed Match to Sample and Incremental Repeated Acquisition). Structural equation models were used to assess associations between prenatal SES and nonverbal working memory, adjusting for child demographics (e.g., age and sex), prenatal exposures (e.g., exposures to lead, arsenic, and secondhand smoke), and family (current SES, maternal IQ) variables. Results: Children had a mean age of 6.6 years [SD 0.6], and 50.5% were boys. Using confirmatory factor analysis, we constructed a latent variable of nonverbal working memory, which was measurement invariant across child sex. Prenatal SES was associated with childhood nonverbal working memory (standardized factor loading = 0.17; p = 0.004). These associations were modified by child sex. Higher prenatal SES was significantly associated with higher childhood WM in females (standardized factor loading = 0.26; p = 0.002), but not in males. Conclusions: Prenatal socioeconomic status is a predictor of childhood working memory, but it may be a stronger predictor for girls compared with for boys. Full article

Introduction: Functional gastrointestinal disorders (FGIDs) are common comorbidities that affect the life quality of children with autism. Objective: This study investigated the link between clinical history and specific colonic fecal microbiota (CFM) markers with the pathophysiology of FGIDs in young children with autism patients. Methods: Thirty-nine young patients (2 and 18 years) were included in the study of FGIDs (+) cases (n = 18) and FGIDs (-) (n = 21) controls. Gastrointestinal disorders were diagnosed by standardized clinical tools (ROMA-IV and six-item gastrointestinal severity index), while bacterial markers, including Bacteroidetes, Firmicutes, Actinomycetes (Phyla); Lactobacillales, Clostridiales, Bifidobacteriales (Orders); B. fragilis, F. prausnitzii, B. longum, D. vulgaris and A. muciniphila (Species), were detected by targeting 16S rRNA and two-step PCR protocol. Results: The overall prevalence of FGIDs was significantly (p < 0.05) associated with cesarean delivery, the duration of milk formula consumption, and the presence of early intestinal symptoms during infancy. Furthermore, Bacteroidetes, Lactobacillales, B. longum, D. vulgaris, and A. muciniphila concentrations were significantly (p ≤ 0.03) higher in stool of patients with moderate symptoms, compared to those who were asymptomatic. Conclusions: Our results suggest that the CFM composition is a potential physiological predictor of FGID pathophysiology in a severity-dependent way in children with autism. Full article

Background: Lymphopenia is associated with disease activity in adult patients with systemic lupus erythematosus (SLE), but no similar studies exist among children. Furthermore, lymphopenia has only been used as a parameter of disease activity in the SLE disease activity index (SLEDAI), but not as an independent marker. Objectives: This study aimed to ascertain lymphopenia as an independent marker related to disease activity in children with SLE. Methods: This was a retrospective cohort study on patients newly diagnosed with SLE. The data were collected from January 2009 to March 2017, including clinical manifestations, complete blood counts, anti-dsDNA, and Mexican-SLEDAI (MEX-SLEDAI) scores. Statistical analysis was performed using the Chi-square test, Student’s t-test, and ROC curve analysis. Results: A total of 103 patients, aged from 12 to 18 years, participated in the study. Of these, 58 patients (56.3%) exhibited lymphopenia. The most commonly observed clinical manifestations in the lymphopenia group included nephritis (72.4%), hypertension (24.1%), and leukopenia (36.2%), with p < 0.05. Furthermore, neuropsychiatric SLE was found exclusively in the lymphopenia group. A negative correlation was observed between lymphocyte counts and anti-dsDNA levels (r = −0.24), as well as between lymphocyte counts and the MEX-SLEDAI score (r = −0.63, with p < 0.05). The receiver operating characteristic (ROC) curve indicated that a lymphocyte count with a cut-off point of ≤1738/mm³ is significant for predicting anti-dsDNA reactivity. Conclusions: Lymphopenia is significantly correlated with higher anti-dsDNA levels and increased disease activity, potentially serving as an independent marker of disease activity in children with SLE. However, further research is needed. Full article

Background/Objective: Ichthyosis vulgaris (IV) is a genodermatosis caused by heterozygous, homozygous, or compound heterozygous variants in the filaggrin (FLG) gene on chromosome 1q21, which also predispose individuals to atopic dermatitis. Its incidence is 1 in 80–250 children. The phenotypic characteristics include palmar hyperlinearity, keratosis pilaris, and a fine scale that is most prominent over the lower abdomen, arms, and legs. Our objective was to study the genetic variants in the FLG gene and their associations in patients with ichthyosis vulgaris. Material and methods: Here, we studied eighteen Mexican sporadic cases and four family members with IV. Steroid sulfatase (STS) enzymatic activity, polymerase chain reaction (PCR), and direct sequencing on the FLG gene were conducted. Results: We found the recurrent heterozygous variant R501* in fifteen sporadic cases, while the other three sporadic cases showed four novel (p.Q2123R, p.H2118R, p.D2120E, p.S3970L) variants and one reported (p.Y2119H) variant; members of family 1 and 2 presented novel homozygous and heterozygous (p.S1482Y, p.P2144S) variants. Conclusions: This study added to the novel pathogenic variants in patients with IV and showed that the stop mutations (p.R501*) in the Mexican population are the most prevalent. Full article