Search Results (302)

Background/Objectives: The effect of diet on maternal and infant genetic levels has been reported in the literature. Diet-associated DNA damage, such as the presence of micronuclei (MN), may be related to an increased risk of developing chronic diseases such as cancer. There is particular concern regarding this damage during pregnancy, as it may affect the newborn (NB). Thus, this review aims to summarize the primary evidence of the impact of diet on the frequency of MN in the mother–infant population. Methods: Five databases (PubMed, Embase, Web of Science, Scopus, and ScienceDirect) were used to search for observational studies. Google Scholar and manual searching were required to perform the “gray literature” search. Results: The search strategy retrieved 1418 records. Of these, 13 were read in full and 5 were included in the review. Most studies were of the cohort type (n = 4) and were carried out in the European region. A total of 875 pregnant women and 238 newborns were evaluated. Despite insufficient evidence to confirm that diet changes the frequency of MN, the included studies found possible effects from the consumption of fried red meat and processed meats and the adequate consumption of vegetables and polyunsaturated fats. Conclusions: Future research is needed in order to understand the effects of diet on genetic stability and to obtain evidence to help plan public policies on food and nutrition or reinforce protective dietary patterns for this and future generations. Full article

Inherited epidermolysis bullosa (EB) is a heterogeneous clinical entity that includes over 30 phenotypically and/or genotypically distinct inherited disorders, characterized by mechanical skin fragility and bullae formation. Junctional EB (JEB) is an autosomal recessive disease characterized by an intermediated cleavage level within the skin layers, commonly at the “lamina lucida”. Laryngo-onycho-cutaneous syndrome (LOC) is an extremely rare variant of JEB, characterized by granulation tissue formation in specific body sites (skin, larynx, and nails). Although most cases of JEB are caused by pathogenic variants occurring in the genes encoding for classical components of the lamina lucida, such as laminin 332 (LAMA3, LAMB3, LAMC2), integrin α6β4 (ITGA6, ITGB4), and collagen XVII (COL17A1), other variants have also been described. We report the case of a 4-month-old male infant who presented with recurrent bullous and erosive lesions from the first month of life. At the first dermatological evaluation, the patient was agitated and exhibited hoarse breathing, a clinical sign suggestive of laryngeal involvement. Multiple polygonal skin erosions were observed on the cheeks, along with similar isolated, roundish lesions on the scalp and legs. Notably, nail dystrophy and near-complete anonychia were evident on the left first and fifth toes. Due to the coexistence of skin erosions and nail dystrophy in such a young infant, a congenital bullous disorder was suspected, prompting molecular analysis of all potentially involved genes. In the patient’s DNA, clinical exome sequencing (CES) identified a pathogenic variant, apparently in homozygosity, in the exon 1 of the LAMA3 gene (18q11.2; NM_000227.6): c.47G > A;p.Trp16*. The presence of this variant was confirmed, in heterozygosity, in the genomic DNA of the patient’s mother, while it was absent in the father’s DNA. Subsequently, trio-based SNP array analysis was performed, revealing a paternally derived pathogenic microdeletion encompassing the LAMA3 locus (18q11.2). To our knowledge, this is the first reported case of JEB with a LOC-like phenotype caused by a maternally inherited monoallelic nonsense mutation in LAMA3, unmasked by an almost complete deletion of the paternal allele. The combined use of exome sequencing and SNP array is proving essential for elucidating autosomal recessive diseases with a discordant segregation. This is pivotal for providing accurate genetic counseling to parents regarding future pregnancies. Full article

Background/Objective: Maternal immunization is highly recommended, particularly in developed countries. However, its awareness among pregnant women in Japan remains low. This study aimed to assess the awareness and attitudes toward maternal immunization among pregnant women in Japan and to identify the factors that may promote its acceptance. Methods: We conducted a cross-sectional questionnaire survey among pregnant women attending antenatal checkups at nine facilities in Kanagawa Prefecture, Japan, from August 2024 to January 2025. The survey assessed knowledge and intention regarding maternal immunization for influenza, pertussis, respiratory syncytial virus (RSV), and group B streptococcus (GBS) as well as attitudes toward vaccination costs and information sources. Results: Overall, 523 respondents were included in this study. The overall awareness of maternal immunization was 16%. Willingness to receive vaccinations during pregnancy was reported for influenza (68%), pertussis (58%), RSV (59%), and GBS (71%). A common reason for vaccine hesitancy included uncertainty about its effects on the fetus. The key factors associated with vaccine acceptance were higher educational attainment and prior knowledge of maternal immunization. Regarding costs, most respondents were willing to pay up to JPY 5000 (approximately USD 35). The most frequently prioritized sources were explanations from physicians, followed by explanations from midwives. Conclusions: Despite low awareness, vaccination intention was comparable to that reported in other countries. Points that may contribute to improved vaccine uptake were also identified. These findings may lead to the prevention of infectious diseases in newborns and infants in Japan and possibly improve public health. Full article

Introduction: Pertussis, a vaccine-preventable disease caused by Bordetella pertussis, is resurging globally due to declining immunization rates. This study explores the clinical and epidemiological features of pediatric pertussis cases in a regional Romanian hospital amid growing vaccine hesitancy. Methods: We conducted a retrospective cohort study on 99 children diagnosed with pertussis and admitted to Ploiești Pediatric Hospital between January 2024 and January 2025. Demographic, clinical, laboratory, and radiological data were analyzed using SPSS 25.0. Results: The median age was 11 months (IQR 4–25), with 12.1% under two months, and ineligible for the first DTaP dose. Notably, 72.7% of children were unvaccinated; 59.4% had missed scheduled doses. None of the mothers received the DTaP vaccination during pregnancy. Most cases (55.6%) had bilaterally accentuated interstitial patterns on chest X-ray, significantly associated with vaccination status (p = 0.019). The leukocyte count was higher in children with alveolar infiltrates (p = 0.028), and as the number of vaccine doses increased, the leukocyte count tended to slightly decrease (p = 0.022, R = −0.229). PCR confirmation was obtained after a mean of 2.2 days, with 12.1% of cases confirmed post-discharge. Azithromycin was used in 74.7% of cases, with good tolerability. Conclusions: Low pediatric and maternal vaccine uptake was a major contributor to pertussis resurgence in this cohort. Radiological severity correlated with vaccination status, suggesting that vaccination may confer protection not only against infection but also against severe pulmonary involvement. These findings support urgent public health efforts to restore vaccine confidence and coverage, particularly among vulnerable infant populations and expectant mothers. Full article

Background: Prematurely born newborns with low birth weight constitute a group of patients who require special care from the first days of life. Prematurity and low birth weight affect about 13.4 million infants. Risk factors include placental disorders but also factors related to the mother, such as smoking, alcohol drinking, drug use, malnutrition, or certain diseases. It is imperative to educate women of reproductive age (15–49) about the basic factors influencing embryonic development, such as oral health, diet, medicine intake, and harmful habits. Even though most women are aware of the negative impact of harmful habits on the fetus, still too little attention is paid to oral health in pregnant women. Poor oral health may influence the well-being of the future mother, as well as of the child. Therefore, women of reproductive age and those who are pregnant must have adequate knowledge on this subject. The aim of this study was to assess the knowledge of Polish women of reproductive age (15–49) regarding oral health during pregnancy, including the impact of dental treatment, oral hygiene, and maternal oral conditions on pregnancy outcomes and the health of the newborn. Materials and Methods: This was a cross-sectional study of 508 women, in the reproductive age, whose age ranged from 18 to 49 years old. The surveys were conducted from April 2020 to November 2020. The questionnaire was originally developed based on the available literature and consisted of seven sections: basic information, general health and habits, pregnancy status and dental care, knowledge of treatment options during pregnancy, oral health status and its association with the risk of preterm birth, prematurity and the child’s oral health, and breastfeeding and oral development. Results: After excluding incomplete questionnaires, a total of 499 questionnaires were included in the analysis. Women participating in the study had a fairly good understanding of the impact of oral health on the fetus and the role of breastfeeding in the development of the stomatognathic system (from 50% to 70% correct answers). However, even though most respondents had completed higher education (344/68.94%), their knowledge of oral health, preterm birth, and low birth weight was very limited (including the impact of inflammation on the intrauterine development of the child or bacteria and transfer across the placenta). In these sections, the percentage of correct answers ranged from less than 20% to 50%. When analyzing knowledge by age, education, number of births, and place of residence, the highest levels of knowledge were observed among respondents with higher education, particularly those aged 27–32. Conclusions: Respondents had a fairly good understanding of the general impact of oral health during pregnancy and recognition of the importance of breastfeeding for infants. However, their knowledge about the impact of bacteria and inflammation in the mother’s oral cavity on prematurity and low birth weight was limited. Therefore, educating women of reproductive age and pregnant women on this topic is essential, as it may help reduce the adverse consequences of prematurity. Full article

Background: Respiratory syncytial virus (RSV) remains a leading cause of lower respiratory tract infections and hospitalizations in infants and young children globally. Recently, RSV prevention has advanced with the introduction of nirsevimab, a long-acting monoclonal antibody, and the RSV preF vaccine for maternal immunization. While these interventions have improved early protection, several limitations hinder their broader impact and long-term effectiveness. Methods: This narrative review synthesizes evidence from clinical trials, observational studies, and regulatory reports to evaluate the main limitations of nirsevimab and maternal RSV vaccination. Literature searches were conducted in major databases, focusing on efficacy, safety, immunogenicity, implementation, and population-specific challenges. Results: Both nirsevimab and maternal vaccination provide strong protection during the first six months of life, but their effectiveness wanes thereafter. This is concerning as nearly half of RSV-related deaths occur in children over six months old. Maternal vaccine efficacy is uncertain in very-preterm infants, and safety concerns persist, including potential associations with preterm birth, Guillain–Barré syndrome, and hypertensive disorders. Real-world data from low-income countries are lacking, limiting generalizability. Additionally, the risk of vaccine-associated enhanced disease (VAED), although unconfirmed, has delayed pediatric vaccine development. Emerging monoclonal antibodies and live-attenuated vaccines are under investigation to extend protection beyond infancy. Conclusions: Despite substantial progress, current RSV prevention strategies leave critical gaps, particularly for older infants and underserved populations. There is a pressing need for next-generation vaccines, enhanced pharmacovigilance, and equitable global implementation to ensure sustained and inclusive RSV protection. Full article

Respiratory syncytial virus (RSV) continues as the major cause of acute lower respiratory tract infections in children around the world, and its substantial morbidity, particularly among infants and high-risk children, poses a significant burden on healthcare systems worldwide. RSV infections occur as a spectrum, ranging from mild upper respiratory symptoms to severe bronchiolitis and pneumonia, and the number of infections shows seasonal variations in different latitudes, as well as lasting impacts, reflecting the COVID-19 pandemic. The pathogenesis of the virus involves epithelial cell invasion and/or fusion to form syncytia, along with exaggerated immune-mediated responses. Disease severity is known to depend on viral load, strain variation, and host immune immaturity. Severe RSV infection during infancy is notably linked with long-term respiratory sequelae such as recurrent wheezing and asthma. Diagnosis is based on clinical suspicion and laboratory confirmation using rapid antigen testing or nucleic acid amplification tests, namely PCR. Non-pharmaceutical interventions, maternal vaccination, and prophylaxis with monoclonal antibodies, e.g., palivizumab and nirsevimab, a newly introduced long-acting agent, are efficient protective and preventive measures. Treatment is still, for the most part, supportive in nature and focuses on oxygen supplementation, hydration, and respiratory support for patients with more severe disease courses; however, the development of immunoprophylaxis and vaccine candidates shows promise for reducing the global burden of RSV. Full article

Pregnancy orchestrates profound neurological, hormonal, and anatomical transformations in the maternal brain, preparing it for caregiving and infant bonding. Neuroimaging reveals structural changes such as gray matter reductions and white matter reorganization during pregnancy, followed by partial recovery postpartum. These adaptations are modulated by fluctuating levels of estradiol, progesterone, prolactin, and oxytocin, which coordinate neuroplasticity and behavioral readiness. At the molecular and cellular levels, pregnancy hormones drive synaptic remodeling, neurogenesis, and glial activity. Together, these changes support maternal motivation, attachment, and responsiveness, highlighting the maternal brain’s dynamic plasticity across gestation and the postpartum period. Also, pregnancy induces profound physiological changes, particularly in vascular, hormonal, and neurologic systems, to support maternal and fetal health. While these adaptations are essential, they can predispose pregnant individuals to various neurologic and ophthalmic pathologies. This review explores how pregnancy-related changes—including hypercoagulability, pituitary enlargement, hormonal fluctuations, and immunological modulation—contribute to conditions such as stroke, idiopathic intracranial hypertension, preeclampsia-associated visual disturbances, and demyelinating disorders like neuromyelitis optica spectrum disorder and multiple sclerosis. Additionally, ocular manifestations of systemic diseases like diabetic retinopathy and thyroid orbitopathy are discussed. Understanding these complex interactions is critical for prompt recognition, accurate diagnosis, and appropriate management of vision-threatening and neurologically significant complications during pregnancy. Nevertheless, many aspects of physiological and pathological changes during and after pregnancy remain unknown and warrant further investigation. Full article

Bacillus Calmette–Guérin (BCG)-related immune reconstitution inflammatory syndrome (IRIS) is a recognised complication following antiretroviral therapy (ART) initiation in HIV-infected infants. We report the case of a 19-month-old child with undiagnosed perinatally acquired HIV due to maternal nondisclosure. The child developed ipsilateral axillary lymphadenitis at the BCG vaccination site shortly after starting ART. The clinical features and temporal association with ART supported a diagnosis of BCG-IRIS. The child was successfully managed with conservative pharmacological treatment alone—rifampicin, isoniazid, and macrolide therapy—without surgical incision or corticosteroids. Progressive improvement of the lesion was observed, and complete clinical resolution occurred over the following months, alongside immune recovery. This case underscores the importance of recognising BCG-IRIS, even in settings where HIV diagnosis may be delayed, and supports the feasibility of conservative management in paediatric patients, potentially avoiding surgical intervention in settings of localised disease. Full article

Background: Low birth weight in newborns is of multifactorial origin (fetal, maternal, placental, and environmental factors), and in one-third of cases, the cause is of unknown origin, with high infant morbidity and mortality. The main treatment for regaining weight and height in children with low birth weight is the application of growth hormones. However, their role as a protective factor to prevent an increase in body composition and the development of metabolic diseases is still poorly understood. Methodology: A case–control study was conducted in a cohort of patients consulted at the CES Pediatric Endocrinology Clinic, Medellín, Colombia, between 2008 and 2018. We evaluated sociodemographic and clinical variables. Additionally, the identification of differential patterns of genomic methylation between cases (treated with growth hormone) and controls (without growth hormone treatment) was performed. The groups were compared using Fisher’s exact test for qualitative variables and Student’s t-test for the difference in means in independent samples. The correlation was evaluated with the Pearson coefficient. Results: Regarding clinical manifestations, body mass index (BMI) was higher in children who did not receive growth hormone treatment, higher doses of growth hormone treatment helped reduce body mass index (R: −0.21, and p = 0.067), and the use of growth hormone was related to a decrease in triglyceride blood concentrations (p = 0.06); these results tended towards significance. Regarding genome-wide methylation patterns, the following genes were found to be hypermethylated: MDGA1, HOXA5, LINC01168, ZFYVE19, ASAH1, MYH15, DNAJC17, PAMR1, MROCKI, CNDP2, CBY2, ZADH2, HOOK2, C9orf129, NXPH2, OSCP1, ZMIZ2, RUNX1, PTPRS, TEX26, EIF2A4K, MYO1F, C2orf69, and ZSCAN1. Meanwhile, the following genes were found hypomethylated: C10orf71-AS1, ZDHHC13, RPL17, EMC4, RPRD2, OBSCN-AS1, ZNF714, MUC4, SUGT1P4, TRIM38, C3, SPON1, NGF-AS1, CCSER2, P2RX2, LOC284379, GGTA1, NLRP5, OR51A4, HLA-H, and TTLL8. Conclusions: Using growth hormone as a treatment in SGA newborns helps regain weight and height. Additionally, it could be a protective factor against the increase in adolescent body composition. Full article

Background/Objectives: In recent years, due to the emergence of antimicrobial resistance, probiotics have been increasingly used during pregnancy and lactation with real maternal–fetal benefits. Probiotic intervention, especially multi-strain probiotics, due to their anti-inflammatory, metabolic, and immunomodulatory actions, can be performed prophylactically and therapeutically with promising results regarding maternal, fetal, and neonatal health. The administration of probiotics can modulate the maternal microbiome, regulate microflora imbalance in various conditions (overweight/obesity, gestational diabetes mellitus (GDM), preeclampsia, allergic diseases), and influence several reactions such as modulating the non-specific cellular immune system, metabolic processes, and inhibition of pathogens. This study aimed to analyze, based on available data, how the administration of probiotic supplements to women during pregnancy can modify immunometabolic responses to microbial dysbiosis to limit weight gain and the risk of obesity, to improve glucose homeostasis and reduce the risk of GDM, to prevent preeclampsia and its effects on maternal–fetal outcomes, and to reduce rates of atopic eczema and allergic diseases in infants. Methods: We performed a systematic search in MEDLINE/PubMed to identify studies that have investigated the effects of probiotic intervention on the immunometabolic response in pregnancy and lactation, especially in women with diabetes, overweight/obesity, preeclampsia, and allergic conditions. Results: Fifty-six RCT studies, totaling 15,044 women, matched the inclusion criteria, of which eight were for interventions on the immune response, twenty on allergic conditions, seven on obesity and excess weight gain in pregnancy, and twenty-one on GDM. Conclusions: Due to the heterogeneous structure and the size of the samples, the methodologies, formulations, moment of initiation, and study durations, future research is needed to establish their effectiveness and safety in pregnancy and lactation regarding maternal-fetal health and outcomes in childhood and adult life. Full article

Background: Asymptomatic congenital cytomegalovirus (acCMV) infections represent 85–90% of all congenital CMV infection. The incidence of late-onset sequelae in these cases significantly contribute to the burden of CMV disease. The timing of maternal infection (TMI) has been identified as the main predictor of late-onset sequelae in acCMV infants, and follow-up programs in Europe are currently calibrated according to the TMI. Our aim was to evaluate neonatal viremia as a possible predictor of the TMI in acCMV infections. Methods: Plasma viral loads (PVLs) were assessed in the first month of life in a population of acCMV-infected newborns delivered by women who suffer a primary CMV infection during pregnancy. TMI was assigned to a trimester of pregnancy according to the maternal serological screening. PVLs were evaluated in relation to the TMI and gestational age (GA) at birth. Results: One hundred and ten newborns were, respectively, assigned to preconceptional (6.4%), 1st (27.3%), 2nd (38.2%), and 3rd (28.2%) trimester infections. Median neonatal PVLs values were significantly different between groups (p < 0.001). First-trimester infections exhibited significantly higher PVLs when compared with third-trimester ones (p < 0.001). Overall, PVLs showed an inverse correlation with GA at birth (p = 0.003). Conclusions: Median neonatal PVLs are significantly higher in 1st trimester infections if compared with 3rd trimester ones, but a wide overlap between PVL values prevent their possible use as a predictor of the TMI. In our population, a significant inverse relationship, mainly dependent on 1st and 2nd trimester infections, is demonstrated between PVLs and GA. Overall, fetal viremia is already decreasing weeks before the term of pregnancy. Full article

Background and Objectives: Canakinumab, a human recombinant monoclonal antibody against interleukin-1ß (IL-1ß), is indicated for the treatment of selected autoinflammatory periodic fever syndromes and rheumatic diseases. Data on its use during pregnancy remain limited and all are primarily derived from case reports. Although animal studies indicate no evidence of reproductive toxicity, the risk to the fetus or mother remains unknown. This study aims to provide more findings about this important topic. Methods: A retrospective analysis was conducted on three patients followed and treated in the National Center for Periodic Fever Syndromes. Although due to the small sample size, no general conclusions regarding the safety of canakinumab during pregnancy can be drawn. Results: Three maternal-exposed pregnancies were assessed, with no paternal exposure. Diagnoses included mevalonate kinase deficiency, familiar Mediterranean fever and TNF-receptor-associated periodic syndrome. All mothers were treated with canakinumab, and two of those continued the canakinumab treatment during the whole course of pregnancy. The diseases remained under full control during pregnancy, enabling conception in two cases where attempts prior to treatment were unsuccessful. The therapy led to disease control, a reduction in inflammation and subsequently successful conception. One patient underwent IVF repeatedly. All pregnancies resulted in three healthy infants, with no reported miscarriages during the canakinumab-exposed pregnancies, no complications during pregnancies and no serious infections in the newborns. The children had normal development, without any developmental delays or chronic illnesses. Conclusions: The current data, including our findings, indicate no harmful effects of canakinumab during pregnancy. However, because of the scarcity of data, the use of canakinumab during pregnancy should be carefully managed, and women who want to become pregnant should continue treatment only after a thorough benefit–risk evaluation. Full article

Background/Objectives: Bronchopulmonary dysplasia (BPD) and retinopathy of prematurity (ROP) affect the prognosis of preterm infants, and their coexistence is a risk factor for poor long-term outcomes in very low-birth-weight infants. However, there has been limited in-depth assessment of common and independent risk factors for BPD and ROP within the same cohort. Therefore, we aimed to investigate the risk factors for BPD and ROP in very low-birth-weight infants born at ≤32 weeks of gestation and to explore the interaction between these two diseases. Methods: The participants were divided into four groups: BPD+ROP+, BPD-ROP-, BPD+ROP-, and BPD-ROP+. Gestational age, birth weight, maternal pregnancy complications, birth and postnatal diseases, and treatment conditions were compared among the groups. Subsequently, univariate and multivariate binary logistic regression analyses were conducted to explore the independent risk factors for BPD and ROP. Results: Common risk factors of BPD and ROP included gestational age and prolonged oxygen therapy. The multivariate analysis revealed that gestational age (OR: 4.44; 95% CI: 3–6.57), intubation resuscitation (OR: 2.35; 95% CI: 1.09–5.05), mechanical ventilation duration ≥ 7 days (OR: 1.01; 95% CI: 1.01–1.01), and prolonged total oxygen therapy (OR: 3.13; 95% CI: 1.28–7.64) were independent risk factors for BPD. Additionally, gestational age (OR: 0.66; 95% CI: 0.54–0.81) and prolonged oxygen therapy (OR: 1.02; 95% CI: 1–1.03) were independent risk factors for ROP. Conclusions: The proper control of the duration and concentration of oxygen therapy, along with the minimization of mechanical ventilation time, is crucial for reducing the incidence of both BPD and ROP. Full article

Background/Objectives: Recent advancements have significantly enhanced our understanding of the interplay between inflammatory bowel disease (IBD) and reproductive health. While international organizations provide guidelines for best practices, translating them into actionable strategies is crucial. This study aimed to develop a comprehensive care pathway to enhance preconception counselling and support for patients with IBD in the perinatal period, ensuring they receive optimal expert care. Methods: We used the 7-phase model for the development of the care pathway. Results: The resulting care pathway, structured as a time–task matrix, outlines the required actions at preconception, during pregnancy, and in the postpartum period for women with IBD. The pathway provides a structured and multidisciplinary approach that addresses the unique needs of patients with IBD of childbearing age. It emphasizes holistic and personalized support throughout the preconception, pregnancy, and postpartum period. Conclusions: The development of this care pathway represents a significant advancement in the perinatal management of IBD. By offering multidisciplinary and individualized care, optimal maternal and infant outcomes are pursued, while establishing a new global standard for reproductive health and perinatal management. Full article