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Keywords = TORCH syndrome

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15 pages, 1625 KiB  
Article
The Relationship between HERV, Interleukin, and Transcription Factor Expression in ZIKV Infected versus Uninfected Trophoblastic Cells
by Anderson Luís da Costa, Paula Prieto-Oliveira, Márcia Duarte-Barbosa, Robert Andreata-Santos, Cristina M. Peter, Thamires Prolo de Brito, Fernando Antoneli, Ricardo Durães-Carvalho, Marcelo R. S. Briones, Juliana T. Maricato, Paolo M. A. Zanotto, Denis Jacob Machado and Luiz M. R. Janini
Cells 2024, 13(17), 1491; https://doi.org/10.3390/cells13171491 - 5 Sep 2024
Viewed by 1682
Abstract
Zika virus (ZIKV) is an arbovirus with maternal, sexual, and TORCH-related transmission capabilities. After 2015, Brazil had the highest number of ZIVK-infected pregnant women who lost their babies or delivered them with Congenital ZIKV Syndrome (CZS). ZIKV triggers an immune defense in the [...] Read more.
Zika virus (ZIKV) is an arbovirus with maternal, sexual, and TORCH-related transmission capabilities. After 2015, Brazil had the highest number of ZIVK-infected pregnant women who lost their babies or delivered them with Congenital ZIKV Syndrome (CZS). ZIKV triggers an immune defense in the placenta. This immune response counts with the participation of interleukins and transcription factors. Additionally, it has the potential involvement of human endogenous retroviruses (HERVS). Interleukins are immune response regulators that aid immune tolerance and support syncytial structure development in the placenta, where syncytin receptors facilitate vital cell-to-cell fusion events. HERVs are remnants of ancient viral infections that integrate into the genome and produce syncytin proteins crucial for placental development. Since ZIKV can infect trophoblast cells, we analyzed the relationship between ZIKV infection, HERV, interleukin, and transcription factor modulations in the placenta. To investigate the impact of ZIKV on trophoblast cells, we examined two cell types (BeWo and HTR8) infected with ZIKV-MR766 (African) and ZIKV-IEC-Paraíba (Asian–Brazilian) using Taqman and RT2 Profiler PCR Array assays. Our results indicate that early ZIKV infection (24–72 h) does not induce differential interleukins, transcription factors, and HERV expression. However, we show that the expression of a few of these host defense genes appears to be linked independently of ZIKV infection. Future studies involving additional trophoblastic cell lineages and extended infection timelines will illuminate the dynamic interplay between ZIKV, HERVs, interleukins, and transcription factors in the placenta. Full article
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8 pages, 1379 KiB  
Case Report
Juvenile Dermatomyositis and Infantile Cerebral Palsy: Aicardi-Gouteres Syndrome, Type 5, with a Novel Mutation in SAMHD1—A Case Report
by Lubov S. Sorokina, Rinat K. Raupov and Mikhail M. Kostik
Biomedicines 2023, 11(6), 1693; https://doi.org/10.3390/biomedicines11061693 - 12 Jun 2023
Cited by 2 | Viewed by 2419
Abstract
Introduction: Aicardi-Gouteres syndrome (AGS) is a monogenic interferonopathy characterized by early onset, dysregulation of skin (chilblain lesions), brain, and immune systems (fever, hepatomegaly, glaucoma, arthritis, myositis, and autoimmune activity). The disease looks like TORCH (Toxoplasmosis, Others, Rubella, Cytomegalovirus, Herpes) infection with early-onset encephalopathy [...] Read more.
Introduction: Aicardi-Gouteres syndrome (AGS) is a monogenic interferonopathy characterized by early onset, dysregulation of skin (chilblain lesions), brain, and immune systems (fever, hepatomegaly, glaucoma, arthritis, myositis, and autoimmune activity). The disease looks like TORCH (Toxoplasmosis, Others, Rubella, Cytomegalovirus, Herpes) infection with early-onset encephalopathy resulting in severe neuropsychological disability. Case description: A six-year-old girl has been suffering from generalized seizures, fever episodes, severe psychomotor development delay, and spastic tetraparesis since the first year of her life. Her two elder brothers died at a young age from suspected infantile cerebral palsy (ICP). Other siblings (younger brother and two elder sisters) are as healthy as their parents. The girl was diagnosed with juvenile dermatomyositis at 5.5 years. Basal ganglia, periventricular, and cerebellum calcifications; hypoplasia of the corpus callosum; and leukodystrophy were detected on CT. The IFN-I score was 12 times higher than normal. The previously not described nucleotide variant c.434G > C (chr 20:36935104C > G; NM_015474) was detected in exon 4 of the SAMHD1 gene in the homozygous state, leading to amino acid substitution p.R145P. Aicardi-Goutières syndrome 5 was diagnosed. Her treatment included corticosteroids, methotrexate, and tofacitinib 5 mg twice a day and it contributed to health improvements. The following brain CT depicted the previously discovered changes without the sign of calcification spreading. Conclusions: Early diagnosis of AGS is highly important as it allows starting treatment in a timely manner. Timely treatment, in return, can help avoid the development/progression of end-organ damage, including severe neurological complications and early death. It is necessary to spread information about AGS among neurologists, neonatologists, infectious disease specialists, and pediatricians. A multidisciplinary team approach is required. Full article
(This article belongs to the Special Issue Immune-Mediated Neurological Disorders)
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18 pages, 381 KiB  
Article
TORCH Congenital Syndrome Infections in Central America’s Northern Triangle
by Mary K. Lynn, M. Stanley Rodriguez Aquino, Stella C. W. Self, Mufaro Kanyangarara, Berry A. Campbell and Melissa S. Nolan
Microorganisms 2023, 11(2), 257; https://doi.org/10.3390/microorganisms11020257 - 19 Jan 2023
Cited by 10 | Viewed by 8414
Abstract
TORCH pathogens are a group of globally prevalent infectious agents that may cross the placental barrier, causing severe negative sequalae in neonates, including fetal death and lifelong morbidity. TORCH infections are classically defined by Toxoplasma gondii, other infectious causes of concern (e.g., [...] Read more.
TORCH pathogens are a group of globally prevalent infectious agents that may cross the placental barrier, causing severe negative sequalae in neonates, including fetal death and lifelong morbidity. TORCH infections are classically defined by Toxoplasma gondii, other infectious causes of concern (e.g., syphilis, Zika virus, malaria, human immunodeficiency virus), rubella virus, cytomegalovirus, and herpes simplex viruses. Neonatal disorders and congenital birth defects are the leading causes of neonatal mortality in Central America’s Northern Triangle, yet little is known about TORCH congenital syndrome in this region. This review synthesizes the little that is known regarding the most salient TORCH infections among pregnant women and neonates in Central America’s Northern Triangle and highlights gaps in the literature that warrant further research. Due to the limited publicly available information, this review includes both peer-reviewed published literature and university professional degree theses. Further large-scale studies should be conducted to clarify the public health impact these infections in this world region. Full article
(This article belongs to the Special Issue Recent Advances in Emerging Infectious Diseases)
16 pages, 1070 KiB  
Article
SARS-CoV-2 Infection Anxiety, Knowledge and Attitudes in University Degree Pregnant Women from Romania—A Cross-Sectional Observational Survey in the First Two Pandemic Years
by Madalina Preda, Rares Sebastian Dinu, Irina Prasacu and Loredana Sabina Cornelia Manolescu
Vaccines 2023, 11(1), 35; https://doi.org/10.3390/vaccines11010035 - 23 Dec 2022
Cited by 4 | Viewed by 2529
Abstract
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic had a high economic cost, morbidity, and death toll. Due to high rates of mortality and morbidity from coronavirus disease 2019 (COVID-19), pregnant women were at particular risk during this pandemic. We designed and [...] Read more.
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic had a high economic cost, morbidity, and death toll. Due to high rates of mortality and morbidity from coronavirus disease 2019 (COVID-19), pregnant women were at particular risk during this pandemic. We designed and conducted a cross-sectional observational survey in Romanian pregnant women to evaluate the outcome of the SARS-CoV-2 pandemic along with the preventive measures taken by authorities. We applied a 43-item questionnaire. We included 147 women over 18 years old from Romania who were pregnant or gave birth between March 2020 and March 2022. All pregnancies were monitored, most of them by a gynecologist, and only 23% faced rescheduled pregnancy visits. The majority (84%) were screened through the TORCH panel, 95.91% felt anxious because of the pandemic, 87% followed SARS-CoV2 preventive recommendations, and 82% were not infected with the coronavirus. Additionally, 80% were vaccinated against COVID-19. They felt the consequences of the pandemic through anxiety, and their level of anxiety influenced their vaccination decisions, the TORCH testing and the method of giving birth despite the level of education. Fortunately, their pregnancies were monitored properly, and there were no consequences noticed for fetuses at birth. Full article
(This article belongs to the Collection COVID-19 Vaccine Development and Vaccination)
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16 pages, 955 KiB  
Article
Zika Virus Infection in a Cohort of Pregnant Women with Exanthematic Disease in Manaus, Brazilian Amazon
by Elijane de Fátima Redivo, Camila Bôtto Menezes, Márcia da Costa Castilho, Marianna Brock, Evela da Silva Magno, Maria das Graças Gomes Saraiva, Salete Sara Alvarez Fernandes, Anny Beatriz Costa Antony de Andrade, Maria das Graças Costa Alecrim and Flor Ernestina Martinez-Espinosa
Viruses 2020, 12(12), 1362; https://doi.org/10.3390/v12121362 - 28 Nov 2020
Cited by 11 | Viewed by 2698
Abstract
The epidemic transmission of Zika virus (ZIKV) in Brazil has been identified as a cause of microcephaly and other neurological malformations in the babies of ZIKV-infected women. The frequency of adverse outcomes of Zika virus infection (ZIKVi) in pregnancy differs depending on the [...] Read more.
The epidemic transmission of Zika virus (ZIKV) in Brazil has been identified as a cause of microcephaly and other neurological malformations in the babies of ZIKV-infected women. The frequency of adverse outcomes of Zika virus infection (ZIKVi) in pregnancy differs depending on the characteristics of exposure to infection, the time of recruitment of research participants, and the outcomes to be observed. This study provides a descriptive analysis—from the onset of symptoms to delivery—of a cohort registered as having maternal ZIKVi in pregnancy, from November 2015 to December 2016. Suspected cases were registered at a referral center for infectious and tropical diseases in Manaus, in the Amazonian region of Brazil. Of 834 women notified, 762 women with confirmed pregnancies were enrolled. Reverse-transcriptase polymerase chain reaction (RT-PCR) confirmed ZIKVi in 42.3% of the cohort. In 35.2% of the cohort, ZIKV was the sole infection identified. Severe adverse pregnancy outcomes (miscarriage, stillbirth, or microcephaly) were observed in both RT-PCR ZIKV-positive (5.0%) and ZIKV-negative (1.8%) cases (RR 3.1; 95% IC 1.4–7.3; p < 0.05), especially during the first trimester of pregnancy (RR 6.2, 95% IC 2.3–16.5; p < 0.001). Although other infectious rash diseases were observed in the pregnant women in the study, having confirmed maternal ZIKVi was the most important risk factor for serious adverse pregnancy events. Full article
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31 pages, 2005 KiB  
Review
Human Neural Stem Cell Systems to Explore Pathogen-Related Neurodevelopmental and Neurodegenerative Disorders
by Matteo Baggiani, Maria Teresa Dell’Anno, Mauro Pistello, Luciano Conti and Marco Onorati
Cells 2020, 9(8), 1893; https://doi.org/10.3390/cells9081893 - 12 Aug 2020
Cited by 15 | Viewed by 7681
Abstract
Building and functioning of the human brain requires the precise orchestration and execution of myriad molecular and cellular processes, across a multitude of cell types and over an extended period of time. Dysregulation of these processes affects structure and function of the brain [...] Read more.
Building and functioning of the human brain requires the precise orchestration and execution of myriad molecular and cellular processes, across a multitude of cell types and over an extended period of time. Dysregulation of these processes affects structure and function of the brain and can lead to neurodevelopmental, neurological, or psychiatric disorders. Multiple environmental stimuli affect neural stem cells (NSCs) at several levels, thus impairing the normal human neurodevelopmental program. In this review article, we will delineate the main mechanisms of infection adopted by several neurotropic pathogens, and the selective NSC vulnerability. In particular, TORCH agents, i.e., Toxoplasma gondii, others (including Zika virus and Coxsackie virus), Rubella virus, Cytomegalovirus, and Herpes simplex virus, will be considered for their devastating effects on NSC self-renewal with the consequent neural progenitor depletion, the cellular substrate of microcephaly. Moreover, new evidence suggests that some of these agents may also affect the NSC progeny, producing long-term effects in the neuronal lineage. This is evident in the paradigmatic example of the neurodegeneration occurring in Alzheimer’s disease. Full article
(This article belongs to the Special Issue Neural Stem Cell Systems to Study Brain Development and Diseases)
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12 pages, 241 KiB  
Article
Cancers after Chornobyl: From Epidemiology to Molecular Quantification
by Dimitry Bazyka, Natalya Gudzenko, Iryna Dyagil, Iryna Ilienko, David Belyi, Vadim Chumak, Anatoly Prysyazhnyuk and Elena Bakhanova
Cancers 2019, 11(9), 1291; https://doi.org/10.3390/cancers11091291 - 2 Sep 2019
Cited by 12 | Viewed by 3986
Abstract
An overview and new data are presented from cancer studies of the most exposed groups of the population after the Chornobyl accident, performed at the National Research Center for Radiation Medicine (NRCRM). Incidence rates of solid cancers were analyzed for the 1990–2016 period [...] Read more.
An overview and new data are presented from cancer studies of the most exposed groups of the population after the Chornobyl accident, performed at the National Research Center for Radiation Medicine (NRCRM). Incidence rates of solid cancers were analyzed for the 1990–2016 period in cleanup workers, evacuees, and the general population from the contaminated areas. In male cleanup workers, the significant increase in rates was demonstrated for cancers in total, leukemia, lymphoma, and thyroid cancer, as well as breast cancer rates were increased in females. Significantly elevated thyroid cancer incidence was identified in the male cleanup workers cohort (150,813) in 1986–2012 with an overall standardized incidence ratio (SIR) of 3.35 (95% CI: 2.91–3.80). A slight decrease in incidence rates was registered starting at 25 years after exposure. In total, 32 of 57 deaths in a group of cleanup workers with confirmed acute radiation syndrome (ARS) or not confirmed ARS (ARS NC) were due to blood malignancies or cancer. Molecular studies in cohort members included gene expression and polymorphism, FISH, relative telomere length, immunophenotype, micronuclei test, histone H2AX, and TORCH infections. Analysis of chronic lymphocytic leukemia (CLL) cases from the cohort showed more frequent mutations in telomere maintenance pathway genes as compared with unexposed CLL patients. Full article
16 pages, 257 KiB  
Perspective
Clinical Trials and Administration of Zika Virus Vaccine in Pregnant Women: Lessons (that Should Have Been) Learned from Excluding Immunization with the Ebola Vaccine during Pregnancy and Lactation
by David A. Schwartz
Vaccines 2018, 6(4), 81; https://doi.org/10.3390/vaccines6040081 - 4 Dec 2018
Cited by 39 | Viewed by 8191
Abstract
As evidenced from recent epidemics, both Ebola and Zika virus infection are potentially catastrophic when occurring in pregnant women. Ebola virus causes extremely high rates of mortality in both mothers and infants; Zika virus is a TORCH infection that produces a congenital malformation [...] Read more.
As evidenced from recent epidemics, both Ebola and Zika virus infection are potentially catastrophic when occurring in pregnant women. Ebola virus causes extremely high rates of mortality in both mothers and infants; Zika virus is a TORCH infection that produces a congenital malformation syndrome and pediatric neurodevelopmental abnormalities. Production of efficacious vaccines has been a public health priority for both infections. Unfortunately, during the clinical trials and subsequent deployment of a vaccine for the Ebola virus, pregnant and lactating women were, and continue to be, excluded from receiving the life-saving vaccine. The most serious consequence of Zika virus infection, congenital Zika syndrome, results from fetal infection during pregnancy. Thus, pregnant women have a major stake in the ongoing development of a vaccine for Zika virus. The exclusion of pregnant women from the development, clinical trials and administration of a potential Zika vaccine unfairly deprives them and their infants of the protection they need against this potentially catastrophic intrauterine infection. When creating policy about these issues, it is important to critically evaluate vaccine safety in pregnancy in the context of the substantial risk of infection for the pregnant woman and her fetus in the absence of immunization. Full article
(This article belongs to the Special Issue Development of Vaccines against Zika Virus)
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