Identification of SYNJ1 in a Complex Case of Juvenile Parkinsonism Using a Multiomics Approach.

This study aimed to elucidate the genetic causes underlying the juvenile parkinsonism (JP) diagnosed in a girl with several family members diagnosed with spinocerebellar ataxia type 2 (SCA2). To achieve this, whole-exome sequencing, analysis of CAG repeats, RNA sequencing analysis on fibroblasts, and metabolite identification were performed. As a result, a homozygous missense mutation SNP T>C (rs2254562) in synaptojamin 1 (SYNJ1), which has been implicated in the regulation of membrane trafficking in the synaptic vesicles, was identified.

Evaluation of inflammatory biomarkers and their association with anti-SARS-CoV-2 antibody titers in healthcare workers vaccinated with BNT162B2.

Introduction: Vaccine-induced immunity against COVID-19 generates antibody and lymphocyte responses. However, variability in antibody titers has been observed after vaccination, and the determinants of a better response should be studied. The main objective of this investigation was to analyze the inflammatory biomarker response induced in healthcare workers vaccinated with BNT162b2, and its association with anti-Spike (a SARS-CoV-2 antigen) antibodies measured throughout a 1-year follow-up.

Phthalate exposure and risk of metabolic syndrome components: A systematic review.

Metabolic syndrome is a cluster of conditions that increase the risk of cardiovascular disease, i.e. obesity, insulin resistance, hypertriglyceridemia, low high-density lipoprotein cholesterol (HDL-c) levels and arterial hypertension.

[Influence of diet in COVID-19 infection and severity risk: a systematic review].

Introduction: the risk and/or prognosis of COVID-19, caused by the SARS-CoV-2 virus, have been related to chronic diseases such as obesity, diabetes mellitus, and cardiovascular diseases, with poor-quality diet being a predisposing factor for these diseases. Objective: to synthesize the scientific evidence on the effect of diet on the risk of SARS-CoV-2 infection and severe COVID-19. Methods: a systematic review was carried out following the PRISMA guidelines.

Psychological Impact of COVID-19 in the Setting of Dentistry: A Review Article.

The worldwide pandemic has exposed healthcare professionals to a high risk of infection, exacerbating the situation of uncertainty caused by COVID-19. The objective of this review was to evaluate the psychological impact of the COVID-19 pandemic on dental professionals and their patients. A literature review was conducted using Medline-Pubmed, Web of Science, and Scopus databases, excluding systematic reviews, narratives, meta-analyses, case reports, book chapters, short communications, and congress papers.

Non-celiac gluten sensitivity: Clinical presentation, etiology and differential diagnosis.

Non-celiac gluten sensitivity (NCGS) is the latest pathology incorporated into the group of gluten-related disorders. This review addresses the evidence on its etiology, differential diagnosis and symptomatology. Although NCGS is defined by a reaction to gluten, other possible etiopathogenic mechanisms have been described, such as an inadequate response to other components of wheat or to FODMAPs, with the term non-celiac sensitivity to wheat recently being extended.

Regulation of EAE by spontaneously generated IL-10-secreting regulatory T cells in HLA-DR15/TCR.Ob1A12 double transgenic mice.

Humanized double transgenic mice express both HLA-DR15 (the MHC gene linked to MS) and TCR.Ob1A12 from a multiple sclerosis patient (that recognizes MBP85-99 presented by HLA-DR15), yet they fail to develop autoimmune encephalomyelitis quickly, although 5-10% develop disease at 12 months. These mice were found to express large numbers of IL-10-secreting splenocytes as early as 4 weeks of age.

Genetically modified hematopoietic stem/progenitor cells that produce IL-10-secreting regulatory T cells.

Random amino acid copolymers used in the treatment of multiple sclerosis in man or experimental autoimmune encephalomyelitis (EAE) in mice [poly(Y,E,A,K), known as Copaxone, and poly(Y,F,A,K)] function at least in part by generation of IL-10-secreting regulatory T cells that mediate bystander immunosuppression. The mechanism through which these copolymers induce Tregs is unknown. To investigate this question, four previously described Vα3.

Monitoring peripheral nerve degeneration in ALS by label-free stimulated Raman scattering imaging.

The study of amyotrophic lateral sclerosis (ALS) and potential interventions would be facilitated if motor axon degeneration could be more readily visualized. Here we demonstrate that stimulated Raman scattering (SRS) microscopy could be used to sensitively monitor peripheral nerve degeneration in ALS mouse models and ALS autopsy materials. Three-dimensional imaging of pre-symptomatic SOD1 mouse models and data processing by a correlation-based algorithm revealed that significant degeneration of peripheral nerves could be detected coincidentally with the earliest detectable signs of muscle denervation and preceded physiologically measurable motor function decline.

Human decidual stromal cells secrete soluble pro-apoptotic factors during decidualization in a cAMP-dependent manner.

Study Question: Is there a relationship between decidualization and apoptosis of decidual stromal cells (DSC)?

Summary Answer: Decidualization triggers the secretion of soluble factors that induce apoptosis in DSC.

What Is Known Already: The differentiation and apoptosis of DSC during decidualization of the receptive decidua are crucial processes for the controlled invasion of trophoblasts in normal pregnancy. Most DSC regress in a time-dependent manner, and their removal is important to provide space for the embryo to grow.

Liaison between natural killer cells and dendritic cells in human gestation.

A successful pregnancy relies on immunological adaptations that allow the fetus to grow and develop in the uterus, despite being recognized by maternal immune cells. Among several immunocompetent cell types present within the human maternal/fetal interface, DC-SIGN(+) dendritic cells (DCs) and CD56(+) natural killer (NK) cells are of major importance for early pregnancy maintenance, not only generating maternal immunological tolerance but also regulating stromal cell differentiation. Previous reports show the presence of NK-DC cell conjugates in first trimester human decidua, suggesting that these cells may play a role in the modulation of the local immune response within the uterus.

Profiling Lgals9 splice variant expression at the fetal-maternal interface: implications in normal and pathological human pregnancy.

Disruption of fetal-maternal tolerance mechanisms can contribute to pregnancy complications, including spontaneous abortion. Galectin-9 (LGALS9), a tandem repeat lectin associated with immune modulation, is expressed in the endometrium during the mid and late secretory phases and in decidua during human early pregnancy. However, the role of LGALS9 during pregnancy remains poorly understood.

Human decidual stromal cells secrete C-X-C motif chemokine 13, express B cell-activating factor and rescue B lymphocytes from apoptosis: distinctive characteristics of follicular dendritic cells.

Background: Decidual stromal cells (DSCs) have classically been considered fibroblastic cells, although their function, cell lineage and origin are not fully understood. We previously demonstrated that human DSCs showed similarities with follicular dendritic cells (FDCs): DSCs expressed FDC-associated antigens, both types of cells are contractile and both are related to mesenchymal stem cells (MSCs). To further characterize DSCs, we investigated whether DSCs and FDCs share any distinctive phenotypical and functional characteristics.

Apoptotic DC-SIGN+ cells in normal human decidua.

Background: Normal pregnancy and spontaneous abortion in humans and mice are associated with immune responses. The decidua harbors dendritic cells identifiable in humans by their expression of DC-SIGN. Because dendritic cells are essential for immune response regulation, decidual DC-SIGN+ cells may play a role in normal or pathological pregnancy outcomes.

Expression of the vasoactive proteins AT1, AT2, and ANP by pregnancy-induced mouse uterine natural killer cells.

Angiotensin II receptor type 1 (AT1) activation leads to vasoconstriction and type 2 receptor (AT2) leads to vasodilation. Atrial natriuretic peptide (ANP) antagonizes the effects of AT1. In human and murine pregnancies, uterine natural killer (uNK) cells closely associate with decidual blood vessels.

Reduced proportion of decidual DC-SIGN+ cells in human spontaneous abortion.

Recent studies showed that some functions of decidual dendritic cells appear to be essential for pregnancy. In humans, decidual dendritic cells are identifiable by their expression of DC-SIGN. We compared the subpopulations of human decidual DC-SIGN+ cells from first-trimester normal pregnancies and spontaneous abortions by flow cytometry.

Fetal-placental hypoxia does not result from failure of spiral arterial modification in mice.

Objectives: To determine if fetal-placental hypoxia is a primary outcome of defective spiral artery remodeling.

Study Design: Pregnancies in Rag2(-/-)Il2rg(-/-) double knock-out mice, which fail to undergo normal physiological spiral arterial remodeling, were compared to syngeneic BALB/c control pregnancies. Mice at gestation day (gd)6, 8, 10, 12 and 18 were infused with Hypoxyprobe-1 before euthanasia to enable detection of cellular hypoxia by immunohistochemistry.

Uterine NK cells, spiral artery modification and the regulation of blood pressure during mouse pregnancy.

Reproductive success in mammals involves coordinated changes in the immune and cardiovascular as well as in the neuroendocrine and reproductive systems. This review addresses studies that identify potential links for NK cells and T cells with the local and systemic cardiovascular adaptations of pregnancy. The studies reviewed have utilized immunohistochemisty and in vivo analyses of vascular parameters by ultrasound, chronic monitoring of hemodynamics via radiotelemetric recording and intravital microscopy.

Orphan receptor kinase ROR2 is expressed in the mouse uterus.

Objective: Wingless-type mouse mammary tumor virus integration site family, member 5A (WNT5A), is expressed in mouse decidua and is thought to play an important role in decidualization. We examined expression of the receptor for WNT5A, receptor tyrosine kinase-like orphan receptor 2 (ROR2), in the uteri of cycling and pregnant mice.

Study Design: Reverse transcription (RT)-PCR and immunohistochemistry were performed.

Human decidual stromal cells protect lymphocytes from apoptosis.

Human decidual stromal cells (DSC) have been shown to be involved in different immune functions that may be relevant for the relationship between the mother and fetus and hence for successful pregnancy. The expression of death ligands by fetal trophoblast and maternal decidual cells has been proposed as a mechanism for the establishment of materno-fetal immunotolerance. This study intended to elucidate the interrelations between DSC and lymphocytes.