Search Results (48)

Background/Objectives: In Brazil, nearly universal access to prenatal care coexists with ongoing negative fetal and infant outcomes. This review explores how the adequacy of prenatal care affects maternal, fetal, and child health, and highlights recurring gaps in service delivery. Methods: A narrative review of Brazilian studies published between 2018 and 2024 was conducted through the Virtual Health Library and PubMed. The initial search (July 2024) was updated in February 2025, and two reviewers independently screened and extracted data, synthesizing clinical outcomes from the findings. Results: A total of thirty-six studies were included in the review. Inadequate prenatal care was consistently linked to higher rates of infant and neonatal mortality, prematurity, low birth weight, congenital syphilis, and neonatal near misses. The studies indicated that counting visits alone does not adequately reflect the quality of care: when evaluated against the Prenatal and Birth Humanization Program (PHPN), most studies met only one of the eight minimum criteria. Common shortcomings included late initiation of care, incomplete diagnostic testing, fragmented follow-up, and insufficient treatment for partners regarding sexually transmitted infections. Conclusions: Adverse outcomes persist in Brazil not due to a lack of access, but rather due to deficiencies in the content and continuity of prenatal care. To improve perinatal outcomes, it is essential to strengthen care through standardized, multidimensional indicators and integrated strategies that combine clinical, educational, and psychosocial support. Full article

A 4-month-old male child was admitted with failure to thrive, persistent osmotic diarrhea, and presence of multiple metabolic abnormalities, which included hypertriglyceridemia, hypercholesterolemia, hypercalcemia, and medullary nephrocalcinosis. He was diagnosed with congenital glucose–galactose malabsorption (CGGM). The exome analysis showed presence of pathogenic mutation in exon 8 of the SLC5A1 gene (c875G>A, p.Cys292Tyr). This gene codes for a sodium–glucose cotransporter called SGLT1. To date, no clinical case reports have reported hypertriglyceridemia and hypercholesterolemia with CGGM. Hypercalcemia and medullary nephrocalcinosis have also been reported only in a handful of CGGM cases worldwide. Through this case, the authors attempt to highlight the uncommon manifestation of this rare disease to facilitate timely management. Although the child died due to healthcare-associated infection (HCAI), pre-natal counseling of the family was carried out for the management of future pregnancies. Full article

Cytomegalovirus (CMV) represents the most prevalent cause of congenital viral infection in newborns and the leading non-genetic etiology of sensorineural hearing loss (SNHL) in children. Notably, only 10–15% of congenitally infected infants possibly present with classic clinical symptoms at birth, including Small for gestational age, Microcephaly, Petechiae or purpura, Blueberry muffin rash, Jaundice, Hepatomegaly, Splenomegaly and abnormal neurologic signs. In contrast, approximately 90% of infected neonates exhibit no apparent symptoms initially. Current research predominantly focuses on symptomatic cases due to their severe acute presentations and high rates of long-term sequelae (40–60%), including SNHL and neurodevelopmental impairments. However, significant controversy persists regarding the management of asymptomatic infants. Emerging evidence reveals that 8–15% of asymptomatic carriers develop Late-onset Hearing Loss (LOHL) beyond the neonatal period. Additionally, 5–10% may manifest neurodevelopmental abnormalities including mild intellectual disability, learning difficulties, or motor coordination disorders. Crucially, given the substantial population of asymptomatic cCMV cases, these delayed complications account for 30–40% of all cCMV-related long-term morbidity, underscoring their considerable public health impact. This review synthesizes current evidence and controversies regarding cCMV-related SNHL in asymptomatic or mildly symptomatic children, with a focus on screening, diagnostic classification, and antiviral management gaps, to heighten clinical awareness of this underrecognized cause of hearing loss. Full article

Background: Human cytomegalovirus (HCMV) is the leading cause of congenital and acquired viral infections in newborns. While acquired infections are often asymptomatic, premature infants—especially those born before 30 weeks of gestation or with a very low birth weight (<1500 g)—are at an increased risk for severe infections. These can manifest as thrombocytopenia, liver failure, sepsis-like symptoms, and, in rare cases, death. HCMV is transmitted through various human secretions, including breast milk, which is the optimal feeding method for premature infants. Methods: We present five premature neonates, born between 23 and 26 weeks of gestation, each with a distinct clinical presentation of acquired HCMV infection. Results: All infants tested negative for congenital CMV infection via molecular urine testing within the first three weeks of life. Acquired infection was diagnosed between the second and third month of life, with symptoms such as septic shock, persistent thrombocytopenia, and signs of liver failure. Each infant received antiviral treatment along with regular viral load monitoring. Unfortunately, one patient died due to complications of prematurity. The remaining infants were discharged and continue to receive follow-up care in an outpatient clinic. Conclusions: These cases of postnatally acquired CMV infection aim to increase awareness of its highly heterogeneous and nonspecific clinical presentation, which may result in an incorrect, delayed, or concealed diagnosis. Currently, there are no clear guidelines on how to manage the presence of the virus in maternal breast milk, particularly for premature infants. It should be recommended to perform a molecular CMV test in all breast-fed preterm infants who present with sepsis-like symptoms, thrombocytopenia, liver failure, or other organ involvement. In case of a confirmed aCMV diagnosis, appropriate treatment should be introduced. Full article

Congenital Rubella Syndrome (CRS) results from maternal infection with the rubella virus during pregnancy, particularly in the first trimester, when the risk of vertical transmission and severe fetal damage is highest. CRS is characterized by a broad spectrum of congenital anomalies, including sensorineural hearing loss, congenital heart defects, cataracts, neurodevelopmental delay, and behavioral disorders. Despite the absence of specific antiviral therapies, active immunization remains the only effective strategy to prevent rubella infection and its congenital consequences. Global immunization efforts, particularly in the Americas, have led to the elimination of rubella and CRS in several countries. However, challenges persist in the post-elimination era, including declining vaccine coverage, vaccine hesitancy, and setbacks caused by the COVID-19 pandemic. Diagnosis relies on maternal serology, fetal imaging, postnatal antibody testing, and molecular techniques. Management requires long-term, multidisciplinary follow-up due to the complex and lifelong sequelae affecting sensory, motor, and cognitive development. This review highlights the clinical, epidemiological, and pathophysiological aspects of CRS, while emphasizing the urgent need to maintain high vaccination coverage and strengthen surveillance systems. Sustained public health commitment is essential to prevent the reemergence of rubella and protect future generations from this preventable syndrome. Full article

Background: Sodium-glucose cotransporter-2 inhibitors (SGLT2i) are increasingly used in patients with type 2 diabetes, chronic kidney disease, and heart failure. However, their safety and efficacy in patients with congenital or surgically altered urogenital anatomy remains underexplored. Methods: We conducted a narrative review of current evidence regarding the use of SGLT2i in patients with urinary tract malformations, urinary diversions, and functional voiding disorders. Key risks, clinical considerations, and management strategies were synthesized from the existing literature and case reports. Results: Patients with benign prostatic hyperplasia, vesicoureteral reflux, neurogenic bladder, nephrostomies, and ileal conduits may face increased risks of urinary tract infections, fungal colonization, and therapy-related complications due to persistent glycosuria and altered urinary flow. Nevertheless, these patients may still benefit from SGLT2i’s systemic renal and cardiovascular effects. Individualized risk assessment, close monitoring, and multidisciplinary management are essential. Conclusions: Patients with urological abnormalities represent a high-risk but potentially high-reward population for SGLT2i therapy. A cautious, tailored approach is necessary, and future dedicated research is urgently needed to better guide clinical practice. Full article

Congenital anomalies of the kidney and urinary tract (CAKUT) are common developmental malformations and a leading cause of pediatric renal dysfunction. Severe hydronephrosis, especially when accompanied by ureteral duplication, ureterocele, or neurogenic bladder, poses significant diagnostic and therapeutic challenges. This case report presents a 7-year-old male with prenatally diagnosed bilateral grade IV/V hydronephrosis (according to the radiology hydronephrosis grading system), complicated by the right pyeloureteral duplication, the left ureterocele, and the neurogenic bladder. The patient’s clinical course was marked by recurrent urinary tract infections (UTIs), progressive renal dysfunction, and multiple surgical interventions. Initial decompression via bilateral ureterostomy and stenting led to significant improvements in renal function. However, the patient experienced recurrent febrile UTIs caused by multidrug-resistant pathogens, necessitating repeated hospitalizations and intravenous antibiotic therapy. Serial imaging studies documented persistent hydronephrosis, a neurogenic bladder, and vesicoureteral reflux. Subsequent surgical interventions included bilateral ureteral reimplantation, excision of the left ureterocele, and removal of a fibroepithelial polyp from the bladder wall. Despite these interventions, residual left hydronephrosis and right kidney hypoplasia persisted, underscoring the need for long-term surveillance. This case highlights the diagnostic and therapeutic challenges of managing CAKUT and emphasizes the importance of a multidisciplinary approach integrating imaging, functional assessment, and surgical planning. Early diagnosis and timely intervention can stabilize renal function, but ongoing monitoring and individualized treatment remain crucial for optimizing long-term outcomes in children with complex CAKUT. Full article

Background: The Zika virus (ZIKV) is an arbovirus linked to “Congenital Zika Syndrome” and a range of neurodevelopmental disorders (NDDs), with microcephaly as the most severe manifestation. Milder NDDs, such as autism spectrum disorders and delays in neuropsychomotor and language development, often go unnoticed in neonates, resulting in long-term social and academic difficulties. Murine models of ZIKV infection can be used to mimic part of the spectrum of motor and cognitive deficits observed in humans. These can be evaluated through behavioral tests, enabling comparison with gene expression profiles and aiding in the characterization of ZIKV-induced NDDs. Objectives: This study aimed to identify genes associated with behavioral changes following a subtle ZIKV infection in juvenile BALB/c mice. Methods: Neonatal mice were subcutaneously inoculated with ZIKV (MH544701.2) on postnatal day 1 (DPN) at a dose of 6.8 × 10³ PFU. Viral presence in the cerebellum and cortex was quantified at 10- and 30-days post-infection (DPI) using RT-qPCR. Neurobehavioral deficits were assessed at 30 DPI through T-maze, rotarod, and open field tests. Next-Generation Sequencing (NGS) was performed to identify differentially expressed genes (DEGs), which were analyzed through Gene Ontology (GO) and KEGG enrichment. Gene interaction networks were then constructed to explore gene interactions in the most enriched biological categories. Results: A ZIKV infection model was successfully established, enabling brain infection while allowing survival beyond 30 DPI. The infection induced mild cognitive behavioral changes, though motor and motivational functions remained unaffected. These cognitive changes were linked to the functional repression of synaptic vesicles and alterations in neuronal structure, suggesting potential disruptions in neuronal plasticity. Conclusions: Moderate ZIKV infection with circulating strains from the 2016 epidemic may cause dysregulation of genes related to immune response, alterations in cytoskeletal organization, and modifications in cellular transport mediated by vesicles. Despite viral control, neurocognitive effects persisted, including memory deficits and anxiety-like behaviors, highlighting the long-term neurological consequences of ZIKV infection in models that show no apparent malformations. Full article

Chagas disease, caused by Trypanosoma cruzi, is a parasitic zoonosis with significant health impacts, particularly in Latin America. While traditionally associated with vector-borne transmission, increased migration has expanded its reach into urban and non-endemic regions. Congenital transmission has become a critical route of infection, involving intricate maternal–fetal immune interactions that challenge diagnosis and treatment. This review synthesizes findings from three RNA-seq studies that explore the molecular underpinnings of congenital Chagas disease, emphasizing differentially expressed genes (DEGs) implicated in host–pathogen interactions. The DAVID tool analysis highlighted the overexpression of genes associated with the innate immune response, including pro-inflammatory cytokines that drive chemotaxis and neutrophil activation. Additionally, calcium-dependent pathways critical for parasite invasion were modulated. T. cruzi exploits the maternal–fetal immune axis to establish a tolerogenic environment conducive to congenital transmission. Alterations in placental angiogenesis, cellular regeneration, and metabolic processes further demonstrate the parasite’s ability to manipulate host responses for its survival and persistence. These findings underscore the complex interplay between the host and pathogen that facilitates disease progression. Future research integrating transcriptomic, proteomic, and metabolomic approaches is essential to unravel the molecular mechanisms underlying congenital Chagas disease, with a particular focus on the contributions of genetic diversity and non-coding RNAs in immune evasion and disease pathogenesis. Full article

Coronary artery fistulas (CAFs) are rare congenital anomalies, presenting in 0.05–0.9% of cases, characterized by an aberrant connection between a coronary artery and a cardiac chamber or great vessel. Clinical manifestations can include heart failure, myocardial ischemia due to coronary steal, arrhythmias, or infective endocarditis. We report a case of a 39-year-old man initially evaluated in 2016 for peripheral edema and suspected right ventricular (RV) abnormality. Earlier assessments indicated a left anterior descending (LAD) coronary artery–RV fistula, but initial catheterization was nondiagnostic. Transthoracic echocardiography (TTE) revealed a dilated left coronary artery (LCA) and an RV apex aneurysm, confirmed by CT and coronary angiography, showing a 14 mm LAD fistula with large aneurysmal sacs (45.6 × 37.3 mm). Cardiac MRI demonstrated a tortuous LAD fistula draining into RV aneurysmal sacs with preserved biventricular function. Surgical intervention was recommended, but the patient declined and was lost to follow-up until 2022, being asymptomatic. Re-evaluation showed progression in aneurysm size (47 × 45 mm and 16 × 18 mm) without ventricular functional change. Follow-up TTE in 2023 indicated stable findings. This case emphasizes the necessity of multimodal imaging (TTE, CT, MRI, angiography) for CAF diagnosis and management planning. Given the variability in CAF presentation and outcomes, individualized management—including surgical, percutaneous, or conservative strategies—is crucial. Persistent follow-up is essential for monitoring potential complications and guiding treatment, even in asymptomatic patients refusing intervention. Full article

Flaviviruses pose a major public health concern across the globe. Among them, Zika virus (ZIKV) is an emerging and reemerging arthropod-borne flavivirus that has become a major international public health problem following multiple large outbreaks over the past two decades. The majority of infections caused by ZIKV exhibit mild symptoms. However, the virus has been found to be associated with a variety of congenital neural abnormalities, including microcephaly in children and Guillain–Barre syndrome in adults. The exact prediction of the potential of ZIKV transmission is still enigmatic and underlines the significance of routine detection of the virus in suspected areas. ZIKV transmission from mother to fetus (including fetal abnormalities), viral presence in immune-privileged areas, and sexual transmission demonstrate the challenges in understanding the factors governing viral persistence and pathogenesis. This review illustrates the transmission patterns, epidemiology, control strategies (through vaccines, antivirals, and vectors), oncolytic aspects, molecular insights into neuro-immunopathogenesis, and other neuropathies caused by ZIKV. Additionally, we summarize in vivo and in vitro models that could provide an important platform to study ZIKV pathogenesis and the underlying governing cellular and molecular mechanisms. Full article

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the structure and function of cilia, primarily impacting the respiratory system. Kartagener syndrome, a subset of PCD, is characterized by situs inversus, bronchiectasis, and chronic sinusitis. Patients with PCD are prone to recurrent respiratory infections due to impaired ciliary function, which hinders effective mucus clearance and promotes pathogen colonization. This case report describes a 24-year-old woman with congenital Kartagener syndrome who developed eosinophilic pneumonia caused by Toxocara canis, a rare parasitic infection that less commonly affects the lungs. Despite initial treatment for a presumed bacterial infection, the patient’s symptoms persisted. Further diagnostics revealed elevated eosinophil counts, total IgE, and the presence of Toxocara canis antibodies. The patient was treated with albendazole, resulting in significant symptom improvement and a reduction in inflammatory markers. This case underscores the diagnostic challenges in treating PCD patients, where atypical infections must be considered, particularly when standard treatments prove ineffective. The complexity of the patient’s condition required interdisciplinary management, integrating parasitological, immunological, and respiratory expertise to ensure appropriate treatment. The case highlights the need for further research into the interactions between congenital respiratory disorders such as Kartagener syndrome and parasitic infections. It also emphasizes the importance of a comprehensive diagnostic approach in managing rare genetic diseases complicated by opportunistic infections. Early detection of parasitic infections in PCD patients is crucial to preventing severe complications, and this case reinforces the necessity of considering parasitic causes in atypical pneumonia cases. Full article

Candida spp. is rarely found in neonatal early-onset sepsis (EOS) etiology. However, candidemia is associated with increased mortality and morbidity, as in late-onset sepsis. Congenital candidiasis may present as a mucocutaneous infection or, more rarely, as a systemic infection in term and preterm infants. This paper presents case reports of two cases of congenital systemic candidiasis (CSC) caused by Candida albicans and a review of the data in the literature. An electronic search of PubMed, Scopus, and Google Scholar was performed to identify publications on congenital candidiasis. Both neonates were male, born vaginally, with risk factors for congenital candidiasis. One of the infants was born at term and presented with an almost generalized maculopapular rash at birth and congenital candidemia; parenteral fluconazole was used successfully. The other infant was born prematurely at 28 weeks of gestation; blood culture, gastric aspirate, and maternal vaginal cultures sampled at birth were positive for C. albicans. Liver and kidney involvement became apparent on the third day of life, while lung involvement was clinically evident on the fourth day. Prolonged parenteral fluconazole was administered due to multiple organ involvement and persistent candidemia. Our experience with the presented cases, similar to data in the literature, suggests that CSC may occur at any gestational age, with various clinical pictures, sometimes mimicking bacterial sepsis, and even in the absence of the rash. Careful anamnesis and a high index of suspicion are important for the prompt recognition and treatment of CSC, optimizing the short- and long-term outcomes. Further research should focus on CSC to improve its diagnosis. Full article

Zika virus (ZIKV), a mosquito-borne flavivirus, is a significant global health concern due to its association with neurodevelopmental disorders such as congenital Zika syndrome (CZS). This study aimed to compare the replication kinetics, viral persistence, cytopathogenic effects, and immune gene expression in human microglia cells (CHME-3) infected with an Asian lineage ZIKV (PRVABC59, referred to as ZIKV-PRV) and an African lineage ZIKV (IBH30656, referred to as ZIKV-IBH). We found that ZIKV-PRV replicated more efficiently and persisted longer while inducing lower levels of cell death and inflammatory gene activation compared with ZIKV-IBH. These findings suggest that the enhanced replication and persistence of ZIKV-PRV, along with its ability to evade innate immune responses, may underlie its increased neuropathogenic potential, especially in the context of CZS. In contrast, ZIKV-IBH, with its stronger immune gene activation and higher cytopathogenicity, may lead to more acute infections with faster viral clearance, thereby reducing the likelihood of chronic central nervous system (CNS) infection. This study provides crucial insights into the molecular and cellular mechanisms driving the differential pathogenicity of ZIKV lineages and highlights the need for further research to pinpoint the viral factors responsible for these distinct clinical outcomes. Full article

Background/Objectives: Hirschsprung’s disease (HD) is a congenital disorder characterised by the absence of ganglion cells in the distal bowel, resulting in functional obstruction. The transanal endorectal pull-through (TEPT) procedure, a minimally invasive approach, aims to treat HD by removing the aganglionic segment. This study assessed the feasibility, safety, and efficacy of single-stage TEPT in paediatric patients, focusing on postoperative complications, bowel function, and quality of life. Methods: A retrospective cohort study was conducted on 150 children who underwent single-stage TEPT from January 2005 to December 2023 at the Medical University of Gdansk. Data were collected from medical records, including demographics, preoperative assessments, surgical details, postoperative management, and follow-up outcomes. Statistical analyses were performed using Microsoft Excel 365 and the programming language Python 3.12. The mean age at surgery was 13 months, with a male-to-female ratio of 2.75:1. The mean operative time was 129 min, and the mean hospital stay was seven days. Results: Postoperative complications included anastomotic leak (4%), wound infections (15%), and enterocolitis (26%). Redo surgeries were required in 18% of cases due to persistent constipation and obstructive symptoms. This article includes a comprehensive review of the literature. Conclusions: TEPT demonstrates a favourable safety profile and efficacy in treating HD, though significant concerns include complications such as enterocolitis and the need for additional surgeries. Surgical expertise and thorough preoperative and postoperative management are crucial to optimising patient outcomes. Full article