Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study.

Spinal muscular atrophy (SMA) and severe T- and/or B-cell lymphopenias (STBCL) in the form of severe combined immunodeficiencies (SCID) or X-linked agammaglobulinemia (XLA) are rare but potentially fatal pathologies. In January 2021, we initiated the first pilot study in Spain to evaluate the efficacy of a very early detection technique for SMA and SCID. RT-PCR was performed on prospectively collected dried blood spots (DBSs) from newborns in Western Andalusia (Spain).

The relation between persistent foramen tympanicum and degenerative bone alterations in temporomandibular joint region.

Objectives: The aim of this study was to evaluate, using cone-beam computed tomography (CBCT), the relationship of persistent foramen tympanicum (PFT) with degenerative changes in the temporomandibular joint (TMJ) and the presence of pneumatized glenoid fossae and articular eminences.

Method: Two experienced oral and maxillofacial radiologists evaluated 510 CBCT scans, from which 94 patients were divided into two groups: G1-patients with PFT and G2-control group. The location of the PFT, presence, or absence of degenerative TMJ changes and morphology were evaluated.

Molecular epidemiology of pneumococcal carriage in children from Seville, following implementation of the PCV13 immunization program in Andalusia, Spain.

Introduction: The 13-valent pneumococcal conjugate vaccine (PCV13) universal vaccination programme was introduced in December 2016 in Andalusia.

Methods: A cross-sectional study was conducted on the molecular epidemiology of pneumococcal nasopharyngeal colonization. A total of 397 healthy children were recruited from primary healthcare centres in Seville for the periods 1/4/2018 to 28/2/2020 and 1/11/2021 to 28/2/2022 (PCV13 period).

Examining the immune signatures of SARS-CoV-2 infection in pregnancy and the impact on neurodevelopment: Protocol of the longitudinal study.

The COVID-19 pandemic represents a valuable opportunity to carry out cohort studies that allow us to advance our knowledge on pathophysiological mechanisms of neuropsychiatric diseases. One of these opportunities is the study of the relationships between inflammation, brain development and an increased risk of suffering neuropsychiatric disorders. Based on the hypothesis that neuroinflammation during early stages of life is associated with neurodevelopmental disorders and confers a greater risk of developing neuropsychiatric disorders, we propose a cohort study of SARS-CoV-2-infected pregnant women and their newborns.

SARS-CoV-2 Seroprevalence Study in Pediatric Patients and Health Care Workers Using Multiplex Antibody Immunoassays.

SARS-CoV-2 infection has become a global health problem specially exacerbated with the continuous appearance of new variants. Healthcare workers (HCW) have been one of the most affected sectors. Children have also been affected, and although infection generally presents as a mild disease, some have developed the Pediatric Inflammatory Multisystem Syndrome Temporally Associated with SARS-CoV-2 (PIMS-TS).

Different manifestations of paracoccidioidomycosis: case reports.

Paracoccidioidomycosis is an infectious disease caused by Paracoccidioides brasiliensis and is endemic in South America. A patient can be infected via fungus inhalation in the mycelium phase. Oral manifestations of paracoccidioidomycosis are often the first clinical sign of disease, but their appearance can vary.

Long-Term Persistence of Anti-SARS-CoV-2 Antibodies in a Pediatric Population.

Background: Antibody dynamics over time after SARS-CoV-2 infection are still unclear, and data regarding children are scarce.

Methods: A prospective cohort study was performed including children infected by SARS-CoV-2 between March and May 2020. Patients were categorized into 3 groups: children admitted with COVID-19; outpatient children with mild COVID-19; and seropositive children participating in a seroprevalence study among cohabitants of infected healthcare workers (HCWs).

High Rates of SARS-CoV-2 Family Transmission in Children of Healthcare Workers During the First Pandemic Wave in Madrid, Spain: Serologic Study.

Background: Data on SARS-CoV-2 transmission among children living with healthcare workers (HCWs) are scarce.

Methods: A cross-sectional study was performed at a tertiary Hospital in Madrid, including children of HCW who suffered from SARS-CoV-2 infection between March and May 2020. Children underwent enzyme-linked immunosorbent serological study for detecting SARS-CoV-2 antibodies: VIRCELL IgG assay.

Brief Report: Toll-like Receptor 9-1635A/G Polymorphism Is Associated With HIV-1 Rebound After Four Weeks of Interruption of Antiretroviral Therapy.

Objectives: This study aims to analyze the association of the presence of common polymorphisms [single nucleotide polymorphisms (SNPs)] on Toll-like receptors (TLRs), such as TLR9-1635A/G, TLR2-1892A/C, TLR2-2258G/A, TLR4-899A/G, and TLR4-1196C/T, with the viral rebound after stopping antiretroviral treatment (ART). CCR5-Δ32 deletion and HLA-A/HLA-B alleles were also analyzed.

Design: Interruption of ART may be required to investigate the outcome of strategies aimed to achieve drug-free HIV remission or cure.

Fatal Pneumocystis jirovecii and Cytomegalovirus Infections in an Infant With Normal TRECs Count: Pitfalls of Newborn Screening for Severe Combined Immunodeficiency.

Newborn screening for severe combined immunodeficiency using T-cell receptor excision circles allows prompt diagnosis and initiation of supportive and curative therapy thereby reducing morbidity and mortality. However, profound combined immunodeficiencies with normal numbers of nonfunctional T cells will go undetected. We present a patient with calcium release-activated calcium channel gene (ORAI1) deficiency and normal T-cell receptor excision circle numbers observed after diagnosis at the age of 14 months who suffered from disseminated fatal cytomegalovirus and Pneumocystis jirovecii infection, demonstrating a potential pitfall of the current newborn screening program.

Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville.

Background: Early diagnosis of primary immunodeficiency such as severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) improves outcome of affected children. T-cell-receptor-excision circles (TRECs) and kappa-deleting-recombination-excision circles (KRECs) determination from dried blood spots (DBS) identify neonates with severe T- and/or B-lymphopenia. No prospective data exist of the impact of gestational age (GA) and birth weight (BW) on TRECs and KRECs values.

The effect of maternal diabetes on the Wnt-PCP pathway during embryogenesis as reflected in the developing mouse eye.

Embryopathies that develop as a consequence of maternal diabetes have been studied intensely in both experimental and clinical scenarios. Accordingly, hyperglycaemia has been shown to downregulate the expression of elements in the non-canonical Wnt-PCP pathway, such as the Dishevelled-associated activator of morphogenesis 1 (Daam1) and Vangl2. Daam1 is a formin that is essential for actin polymerization and for cytoskeletal reorganization, and it is expressed strongly in certain organs during mouse development, including the eye, neural tube and heart.

Microbial translocation and T cell activation are not associated in chronic HIV-infected children.

A cross-sectional study of 77 chronic HIV-infected children revealed higher levels of biomarkers of inflammation (ultrasensitive C-reactive protein, D-dimer and β-2-microglobulin), immune activation (HLA-DR+ CD38+ CD4+ and CD8+ T cells) and microbial translocation [lipopolysaccaride (LPS), microbial 16S rDNA and sCD14] than 32 healthy controls. Immune activation was higher in viremic children, but microbial translocation occurred independently of viraemia and T cell activation. Our results do not support a relevant role of microbial translocation in T cell activation in chronic HIV-infected children, proposing a need to develop strategies to minimize microbial translocation in the future.

Association of human beta-defensin-2 serum levels and sepsis in preterm neonates*.

Objectives: To determine human beta-defensin-2 levels in term and preterm neonates at birth and to evaluate its impact on sepsis.

Design: Observational study.

Setting: Single tertiary care hospital.

Laminin and integrin expression in the ventral ectodermal ridge of the mouse embryo: implications for regulation of BMP signalling.

Background: The ventral ectodermal ridge (VER) is an important signalling centre in the mouse tail-bud following completion of gastrulation. BMP regulation is essential for VER function, but how these signals are transmitted between adjacent tissues is unclear.

Results: We investigated the idea that extracellular matrix components might be involved, using immunohistochemistry and in situ hybridisation to detect all known α, β, and γ laminin chains and their mRNAs in the early tail bud.

Prevalence and resistance mutations of non-B HIV-1 subtypes among immigrants in Southern Spain along the decade 2000-2010.

Background: Most of the non-B HIV-1 subtypes are predominant in Sub-Saharan Africa and India although they have been found worldwide. In the last decade, immigration from these areas has increased considerably in Spain. The objective of this study was to evaluate the prevalence of non-B subtypes circulating in a cohort of HIV-1-infected immigrants in Seville, Southern Spain and to identify drug resistance-associated mutations.

Immunovirologic characteristics of human immunodeficiency virus-infected patients consisting mainly of injecting drug users on highly active antiretroviral treatment with prolonged virologic failure.

Immunovirologic parameters of 24 heavily antiretroviral drug-pretreated patients with prolonged virologic treatment failure under highly active antiretroviral therapy, and who harbored highly resistant human immunodeficiency virus (HIV) isolates, were studied in this retrospective cross-sectional study. Most of the patients were injecting drug users (71%) and male (88%). All patients were studied for CD4(+) cell count, HIV viral load, resistance mutations, and viral phenotype.

Thymic volume predicts CD4 T-cell decline in HIV-infected adults under prolonged treatment interruption.

Objective: To analyze the predictive capacity of thymic volume in CD4 T-cell loss after treatment interruption in HIV-infected patients with high nadir CD4 count.

Methods: Thirty-nine HIV-infected patients with CD4 counts greater than or equal to 500 cells/microL, nadir CD4 counts greater than or equal to 250 cells/microL, and plasma viral loads less than 50 copies/mL for at least the past 12 months began a treatment interruption program. The event of interest for this study was the decrease of CD4 count below 350 cells/microL.

High thymic volume is associated with viral replication and immunologic impairment only early after HAART interruption in chronic HIV infection.

One of the strategies that has been investigated to reduce antiretroviral treatment toxicity in patients infected with human immunodeficiency virus (HIV) is structured treatment interruption (STI). Our aim was to analyze early viral and immune dynamics after interruption of highly active antiretroviral therapy (HAART) and to determine whether thymic function-related markers play a role in preventing CD4 count decline caused by increased viral replication. This was a prospective study of an open cohort of 47 HIV-infected patients with a median 969 CD4 count and prolonged viral suppression.

Melatonin synthesized by Jurkat human leukemic T cell line is implicated in IL-2 production.

Human lymphocytes have recently been described as an important physiological source of melatonin (N-acetyl-5-methoxytryptamine), which could be involved in the regulation of the human immune system. On the other hand, stimulation of IL-2 production by exogenous melatonin has been shown in the Jurkat human lymphocytic cell line. Furthermore, both melatonin membrane and nuclear receptors are present in these cells.

Effect of hepatitis C virus coinfection on humoral immune alterations in naïve HIV-infected adults on HAART: a three year follow-up study.

Whether HAART allows complete recovery of humoral immune function in HIV-infected individuals is still controversial. Our objective was to study the effect of HAART on both B cell repopulation and hypergammaglobulinemia in 72 naïve patients, including 35 HCV-coinfected individuals, during 156 weeks on HAART. The possible role of HCV coinfection on the recovery of the humoral immune system was also investigated.