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Early developmental screening tools constructed in Latin American countries: umbrella review
(Publicidad Permanyer, SLU, 2025-04-09)
SCHONHAUT BERMAN, LUISA
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Antonia Valdés
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Ilan Oppenheimer
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Antonio Rizzoli-Córdoba
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Rolando Rivera
2Scopus© Citations 2
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Arsenic Exposure During Pregnancy and Childhood: Factors Explaining Changes over a Decade
(MDPI AG, 2025-03-16)
RUBILAR RAMIREZ, PAOLA ANDREA
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HIRMAS ADAUY, MACARENA SOLEDAD
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APABLAZA SALINAS, MAURICIO IVÁN
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Camila Awad
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Xaviera Molina
Arsenic chronic exposure, particularly in its inorganic form, represents a significant public health concern. This study was conducted in Arica, the northernmost city in the country, whose inhabitants have been exposed to inorganic arsenic both naturally through drinking water and anthropogenically due to a toxic waste disposal site. We explored changes in inorganic arsenic levels in a cohort of pregnant women and their children over a decade, identifying exposure trends and their determinants. We used data on arsenic exposure through maternal urine samples during pregnancy, collected by the Health Authority between 2013 and 2016 (measurement 1), and followed up with assessments of their children in 2023 (measurement 2). Temporal changes in inorganic arsenic concentration were analyzed using the Wilcoxon Signed-Rank test, and a mixed linear regression model was employed to determine which factors contributed to urinary inorganic arsenic levels. We did not observe significant differences in mean arsenic concentrations between the two-time points (p = 0.4026). The mixed linear regression model revealed that children consuming bottled water had 8.3% lower urinary inorganic arsenic concentrations than those drinking tap water (95% CI: −15.36 to −0.54%). Additionally, children from ethnic groups had 8.64% higher inorganic arsenic concentrations (95% CI: 0.49 to 17.5%), while those with caregivers with higher education showed a 13.67% reduction (95% CI: −25.06 to −0.56%). Despite mitigation efforts, these findings underscore the ongoing risk of inorganic arsenic exposure among vulnerable populations. They further emphasize the importance of addressing natural arsenic contamination in water and implementing targeted interventions to reduce disparities associated with socioeconomic and demographic factors.</jats:p>
Scopus© Citations 1 6
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Exploring the feasibility and effectiveness of a naturalistic family centered intervention to enhance early interactions in toddlers with Down syndrome
(Springer Science and Business Media LLC, 2025-04-09)
Ana Mendoza-García
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Andrés Aparicio
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Paulina Sofía Arango
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TENORIO DELGADO, MARCELA
This study analyses the feasibility and effectiveness of BabyMICARE, a manualised intervention programme aimed at improving the interactions between caregivers and infants and toddlers with Down syndrome. The programme’s goal is to enhance caregivers’ sensitivity and reduce directivity during early interactions, particularly during play and daily routines. A pre-test and post-test design was used with 40 dyads of infants with Down syndrome and their caregivers, who were divided into a control group (n = 20) and an intervention group (n = 20), based on baseline scores in key interaction subscales. Sessions were conducted over 10 weeks by trained psychologists. Parent-infant interaction was assessed using the MACI coding system, which measures aspects such as sensitive responsiveness, directivity and the level of reciprocity between the parent and the child. The programme showed high feasibility, with a 100% attendance rate but some rescheduling. Caregivers evaluated it positively. The intervention group demonstrated significant improvements in five of eight MACI scales, particularly in sensitive responsiveness and nondirectiveness, while no changes were observed in the control group. The results suggest that BabyMICARE is a feasible and effective intervention for promoting more responsive, less directive interactions, which may be crucial in fostering children’s development.
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TGFβ links EBV to multisystem inflammatory syndrome in children
(Springer Science and Business Media LLC, 2025-03-12)
Carl Christoph Goetzke
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Mona Massoud
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Stefan Frischbutter
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Gabriela Maria Guerra
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Marta Ferreira-Gomes
<jats:title>Abstract</jats:title> <jats:p>In a subset of children and adolescents, SARS-CoV-2 infection induces a severe acute hyperinflammatory shock<jats:sup>1</jats:sup> termed multisystem inflammatory syndrome in children (MIS-C) at four to eight weeks after infection. MIS-C is characterized by a specific T cell expansion<jats:sup>2</jats:sup> and systemic hyperinflammation<jats:sup>3</jats:sup>. The pathogenesis of MIS-C remains largely unknown. Here we show that acute MIS-C is characterized by impaired reactivation of virus-reactive memory T cells, which depends on increased serum levels of the cytokine TGFβ resembling those that occur during severe COVID-19 (refs. <jats:sup>4,5</jats:sup>). This functional impairment in T cell reactivity is accompanied by the presence of TGFβ-response signatures in T cells, B cells and monocytes along with reduced antigen-presentation capabilities of monocytes, and can be reversed by blocking TGFβ. Furthermore, T cell receptor repertoires of patients with MIS-C exhibit expansion of T cells expressing TCRVβ21.3, resembling Epstein–Barr virus (EBV)-reactive T cell clones capable of eliminating EBV-infected B cells. Additionally, serum TGFβ in patients with MIS-C can trigger EBV reactivation, which is reversible with TGFβ blockade. Clinically, the TGFβ-induced defect in T cell reactivity correlates with a higher EBV seroprevalence in patients with MIS-C compared with age-matched controls, along with the occurrence of EBV reactivation. Our findings establish a connection between SARS-CoV-2 infection and COVID-19 sequelae in children, in which impaired T cell cytotoxicity triggered by TGFβ overproduction leads to EBV reactivation and subsequent hyperinflammation.</jats:p>
Scopus© Citations 4 2
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Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency
(Elsevier BV, 2025-05)
Manar Abdalgani
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Evelyn R. Hernandez
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Luis A. Pedroza
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Ivan K. Chinn
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Lisa R. Forbes Satter
Scopus© Citations 1 2
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Your baby has down syndrome: a reflexive thematic analysis of breaking the news to parents
(Springer Science and Business Media LLC, 2025-05-06)
TENORIO DELGADO, MARCELA
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Johanna Sagner-Tapia
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Renata Garibaldi
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Vaso Totsika
Scopus© Citations 1 6
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Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature
(American Association for the Advancement of Science (AAAS), 2025-01-10)
Marita Bosticardo
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Kerry Dobbs
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Ottavia M. Delmonte
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Andrew J. Martins
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Francesca Pala
<jats:p> Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of <jats:italic>RAG</jats:italic> -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic <jats:italic>RAG</jats:italic> variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons. T helper 2 (T <jats:sub>H</jats:sub> 2) cell skewing and a prominent inflammatory signature characterize Omenn syndrome, whereas more hypomorphic forms of RAG deficiency are associated with a type 1 immune profile both in blood and tissues. We used cellular indexing of transcriptomes and epitopes by sequencing (CITE-seq) analysis to define the cell lineage–specific contribution to the immunopathology of the distinct RAG phenotypes. These insights may help improve the diagnosis and clinical management of the various forms of the disease. </jats:p>
Scopus© Citations 2 1
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The Latin American Society for Immunodeficiencies Registry
(2024)
Gisela Seminario
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Maria Edith Gonzalez-Serrano
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Carolina Sanchez Aranda
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Anete Sevciovic Grumach
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Gesmar Rodrigues Silva Segundo
Scopus© Citations 1 3
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Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome
(2023)
Yuri A. Zarate
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Katherine Bosanko
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Amrit Kannan
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Ashlen Thomason
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Beth Nutt
<jats:p>Characterized by developmental delay with severe speech delay, dental anomalies, cleft palate, skeletal abnormalities, and behavioral difficulties, SATB2-associated syndrome (SAS) is caused by pathogenic variants in SATB2. The SAS phenotype range of severity has been documented previously in large series. Using data from the SAS registry, we present the SAS severity score, a comprehensive scoring rubric that encompasses 15 different individual neurodevelopmental and systemic features. Higher (more severe) systemic and total (sum of neurodevelopmental and systemic scores) scores were seen for null variants located after amino acid 350 (the start of the CUT1 domain), the recurrent missense Arg389Cys variant (<jats:inline-formula> <math xmlns="http://www.w3.org/1998/Math/MathML" id="M1"> <mi>n</mi> <mo>=</mo> <mn>10</mn> </math> </jats:inline-formula>), intragenic deletions, and larger chromosomal deletions. The Arg389Cys variant had the highest cognitive, verbal, and sialorrhea severity scores, while large chromosomal deletions had the highest expressive, ambulation, palate, feeding and growth, neurodevelopmental, and total scores. Missense variants not located in the CUT1 or CUT2 domain scored lower in several subcategories. We conclude that the SAS severity score allows quantitative phenotype morbidity description that can be used in routine clinical counseling. Further refinement and validation of the SAS severity score are expected over time. All data from this project can be interactively explored in a new portal.</jats:p>
Scopus© Citations 5 7
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<i>PUF60</i>‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic <i>PUF60</i> variants
(2023)
H. Grimes
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M. Ansari
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T. Ashraf
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Anna Mª. Cueto‐González
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A. Calder
<jats:title>Abstract</jats:title><jats:p><jats:italic>PUF60</jats:italic>‐related developmental disorder (also referred to as Verheij syndrome), resulting from haploinsufficiency of <jats:italic>PUF60</jats:italic>, is associated with multiple congenital anomalies affecting a wide range of body systems. These anomalies include ophthalmic coloboma, and congenital anomalies of the heart, kidney, and musculoskeletal system. Behavioral and intellectual difficulties are also observed. While less common than other features associated with <jats:italic>PUF60</jats:italic>‐related developmental disorder, for instance hearing impairment and short stature, identification of specific anomalies such as ophthalmic coloboma can aid with diagnostic identification given the limited spectrum of genes linked with this feature. We describe 10 patients with <jats:italic>PUF60</jats:italic> gene variants, bringing the total number reported in the literature, to varying levels of details, to 56 patients. Patients were recruited both via locally based exome sequencing from international sites and from the DDD study in the United Kingdom. Eight of the variants reported were novel <jats:italic>PUF60</jats:italic> variants. The addition of a further patient with a reported c449‐457del variant to the existing literature highlights this as a recurrent variant. One variant was inherited from an affected parent. This is the first example in the literature of an inherited variant resulting in <jats:italic>PUF60</jats:italic>‐related developmental disorder. Two patients (20%) were reported to have a renal anomaly consistent with 22% of cases in previously reported literature. Two patients received specialist endocrine treatment. More commonly observed were clinical features such as: cardiac anomalies (40%), ocular abnormalities (70%), intellectual disability (60%), and skeletal abnormalities (80%). Facial features did not demonstrate a recognizable gestalt. Of note, but remaining of unclear causality, we describe a single pediatric patient with pineoblastoma. We recommend that stature and pubertal progress should be monitored in <jats:italic>PUF60</jats:italic>‐related developmental disorder with a low threshold for endocrine investigations as hormone therapy may be indicated. Our study reports an inherited case with <jats:italic>PUF60</jats:italic>‐related developmental disorder which has important genetic counseling implications for families.</jats:p>
Scopus© Citations 5 1

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