Search Results (36)

Objective: This study aimed to investigate the prognostic value of two novel systemic inflammatory indices—the Aggregate Systemic Inflammation Index (AISI) and the Systemic Inflammatory Response Index (SIRI)—in predicting preterm delivery and associated neonatal outcomes. Methods: A retrospective, descriptive, cross-sectional study was conducted using the electronic health records of 1056 pregnant women admitted to a tertiary university hospital between 2020 and 2025. Pregnancies were classified into preterm (n = 528) and term (n = 528) groups. Demographic, obstetric, neonatal, and laboratory data were analyzed. Results: The AISI and SIRI values in the first trimester and at admission were significantly higher in the preterm delivery group than in the term delivery group (p < 0.001). Elevated AISI and SIRI levels correlated with lower 1st- and 5th-minute APGAR scores (p < 0.001) and higher neonatal intensive care unit (NICU) admission rates (35.8% vs. 4.5%; p < 0.001). The AISI cut-offs were 399.2 for preterm delivery (59.7% sensitivity, 59.8% specificity), 558.8 for NICU admission (79.3% sensitivity, 79.2% specificity), 694.0 for RDS (87.8% sensitivity, 87.8% specificity), 602.1 for sepsis (79.6% sensitivity, 79.2% specificity), and 753.8 for congenital pneumonia (81.6% sensitivity, 81.9% specificity). The SIRI cut-offs were 1.7 for preterm delivery (59.1% sensitivity, 58.9% specificity), 2.4 for NICU admission (81.7% sensitivity, 81.6% specificity), 3.1 for RDS (89.0% sensitivity, 89.5% specificity), 3.0 for sepsis (85.8% sensitivity, 85.7% specificity), and 3.4 for congenital pneumonia (85.7% sensitivity, 83.8% specificity). Conclusions: The AISI and SIRI showed significant predictive utility for neonatal morbidity in preterm delivery. The use of these markers in clinical practice may improve neonatal outcomes by enhancing the early diagnosis and management of high-risk pregnancies. Full article

Background: Primary lung tumors in pediatric patients are rare, predominantly malignant, and present diagnostic challenges due to symptom overlap with more common conditions such as inflammatory processes or asthma. Evidence-based approaches for managing these rare neoplasms in childhood are scarce. This retrospective study reports the experience of a pediatric referral center in diagnosing and treating these tumors. Methods: Pediatric primary lung tumors treated at Giannina Gaslini Children’s Hospital between January 2016 and January 2024 were included. Data on clinical presentation, histopathology, imaging, treatment approaches, and outcomes were systematically collected and analyzed. Results: Nine patients (six males and three females) were identified, with a mean age (±SD) at diagnosis of 8.81 ± 5 years. The most common clinical manifestation was recurrent pneumonia (four patients), followed by persistent cough and wheezing (three patients). The average duration of symptoms before diagnosis was 12.8 months ± 12.2 months. Histopathological diagnoses were typical carcinoid tumors (n = 2), atypical carcinoid tumors (n = 2), inflammatory myofibroblastic tumors (n = 2), congenital peribronchial myofibroblastic tumor (n = 1), myoepithelial carcinoma (n = 1), and pleuropulmonary blastoma (n = 1). Radical surgery resulted in complete response for seven patients, with a median follow-up of 52 months (IQR 39 months). The myoepithelial carcinoma was treated with multimodal therapy, relapsed after 17 months, and adjuvant chemotherapy is currently ongoing. Neoadjuvant chemotherapy for the pleuropulmonary blastoma is currently ongoing. Conclusions: Primary lung tumors in children, though rare, may have favorable outcomes when appropriately managed. Nonspecific clinical presentations often contribute to diagnostic delays. This study highlights the critical need of thorough evaluation in cases of persistent, therapy-resistant aspecific respiratory symptoms. Early diagnosis, coupled with complete surgical resection, significantly improves prognosis. Full article

Objective: This study examines early neonatal adaptation and birth complications in adolescents with term pregnancies who had positive cervical canal cultures upon hospital admission. Methods: This retrospective study analyzed data from 1 January 2015 to 15 November 2024. Conducted at Bonifraters Medical Center in Katowice, Poland, the study included 267 individuals, with 178 over the age of 19 and 89 under the age of 19. Results: Adolescents exhibited significantly higher rates of positive GBS cultures in the third trimester (62.92% vs. 38.20%; p < 0.001) than older individuals. Neonates of adolescent mothers experienced increased congenital pneumonia (7.87% vs. 1.12%; p = 0.012) and antibiotic administration (10.11% vs. 2.81%; p = 0.026). Lactation failure was markedly higher in adolescent mothers (10.11% vs. 1.12%; p = 0.002). Adolescents also showed more postpartum blood loss (median: 250 mL vs. 200 mL; p < 0.001) and more extended hospital stays (median: 3 vs. 2 days; p = 0.002). Neonatal anthropometric measures revealed shorter body lengths in the adolescent group (median: 53 cm vs. 54 cm; p = 0.003). Conclusions: Adolescent pregnancies are associated with significantly higher rates of complications and adverse neonatal outcomes, especially infectious causes. Although our study results are preliminary, it appears that chronic GBS colonization in pregnant adolescents may impact pregnancy and newborn outcomes. Full article

Background: The spontaneous rupture of the internal iliac artery (IIA) is an exceedingly rare vascular event, typically associated with congenital anomalies or degenerative conditions. This report details an unprecedented case of isolated IIA rupture in an elderly patient with evidence of plaque rupture but devoid of congenital vascular pathology. Case Presentation: An 81-year-old Caucasian male presented to the Emergency Department following a syncopal episode and acute right iliac fossa pain. His significant medical history was atrial fibrillation managed with anticoagulation (Apixaban), non-insulin-dependent diabetes mellitus, and recent hospitalization for multidrug-resistant Klebsiella pneumoniae pneumonia. Initial imaging with contrast-enhanced computed tomography revealed an aneurysmatic dilatation of the right IIA, indicative of rupture. An endovascular repair was performed, employing a combination of stent grafts to achieve proximal and distal sealing and to restore vascular continuity. Outcome: The patient exhibited hemodynamic stability throughout the perioperative period and was transferred to the general ward postoperatively. However, he suffered a recurrent rupture on the 30th postoperative day, prompting a second endovascular intervention to extend the graft landing zone into the common iliac artery. Intraoperative findings confirmed localized plaque rupture as the underlying trigger for the initial vessel rupture. He ultimately achieved clinical stability and was discharged on the 35th postoperative day. Discussion: This case illustrates the critical importance of recognizing spontaneous IIA rupture as a potential complication in elderly patients, particularly in the context of recent severe infections. While the relationship between the rupture and the Klebsiella pneumoniae infection remains speculative, this report underscores the necessity of further research into the role of infectious processes in vascular integrity and susceptibility to rupture. Conclusions: The successful management of this rare and complex vascular emergency using endovascular techniques underscores the evolving landscape of minimally invasive interventions. This case contributes to the limited existing literature on spontaneous IIA rupture and highlights the need for increased clinical vigilance regarding atypical presentations in similar patient populations. Full article

Background and objectives: Outcomes of neonates diagnosed with esophageal atresia (EA), a rare congenital malformation, vary widely. Due to limited and fragmented data globally, major regional centers offer a crucial opportunity to better understand EA’s epidemiology and the management. This study aimed to address these gaps by determining total birth prevalence and early treatment outcomes of EA in southern Croatia. Methods: All EA cases (1991–2020) were retrospectively ascertained from medical documentation at the only tertiary referral center for EA in southern Croatia, with birth data collected from the entire background population. We collected data on neonates’ status and diagnosis, operative findings, early postoperative complications, and treatment outcome from this single center. Results: A total of 53 cases were identified, with an average total birth prevalence of 2.44 per 10,000 total births/year. No significant sex differences were found (p = 0.339), and most cases were complex Vogt 3B. The mortality rate dropped from 87 to 8% over a 30-year period (p < 0.001). The 1-year survival rate was 54% (95% CI 40–68%) for liveborns and 64% (50–79%) for liveborns who underwent surgery and intensive care. However, 16% of patients died before surgery due to hemodynamic instability, and among those operated on, high sepsis, pneumonia, and atelectasis rates were observed. Conclusions: EA prevalence in southern Croatia aligns with European data. Survival improved significantly after 2002, coinciding with a dedicated pediatric ICU and enhanced pediatric care training. Further advancements in early diagnosis and a multidisciplinary approach are needed to further reduce mortality. Strengthened postoperative infection control and optimized postoperative respiratory support are also crucial to minimizing complications. Full article

Varicella-zoster virus is an α-herpes virus with a double-stranded DNA genome, which causes two main clinical pictures: varicella or chickenpox and herpes zoster. Chickenpox is the primary infection, predominantly affecting children, and it presents with fever and a cutaneous eruption consisting of a vesicular, pruritic, and painful rash. Herpes zoster is a viral infection that typically develops in adulthood as a result of the reactivation of the varicella-zoster virus. If acquired during pregnancy, chickenpox may be responsible for serious complications for the mother, the fetus, or the newborn. The most frequent complication of primary varicella-zoster virus infection in mothers is varicella pneumonia, while encephalitis and hepatitis are rare. The effects on the fetus due to chickenpox infection depend on the stage of pregnancy when the mother becomes infected. If the infection occurs during the first trimester, it does not increase the risk of miscarriage. However, if the infection occurs during the first or second trimester, it may cause fetal varicella syndrome or congenital varicella syndrome. During pregnancy, if the varicella-zoster virus reactivates, it usually does not cause harm to the fetus or lead to any birth defects. However, it may increase maternal morbidity due to herpes zoster and its complications. In the case of primary varicella-zoster virus infection in pregnant women, about 20% of newborns may get neonatal or infantile herpes zoster without any complications. However, it is recommended to start early treatment of herpes zoster in pregnant women as it is believed to accelerate the healing process of skin lesions and alleviate pain, reducing both its duration and severity. Through this narrative review, we discuss the approach to the optimal management of varicella-zoster virus infection during pregnancy. Full article

Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in PIGW. This rare disorder has previously been described in only 12 patients. We report four novel patients: two sib fetuses with congenital anomalies affecting several organs, including the heart; a living girl with tetralogy of Fallot, global developmental delay, behavioral abnormalities, and atypic electroencephalography (EEG) without epilepsy; a girl with early-onset, treatment-resistant seizures, developmental regression, and recurrent infections, that ultimately passed away prematurely due to pneumonia. We also illustrate evolving facial appearance and biochemical abnormalities. We identify two novel genotypes and the first frameshift variant, supporting a loss-of-function pathogenic mechanism. By merging our cohort with patients documented in the literature, we deeply analyzed the clinical and genetic features of 16 patients with PIGW-related disorder, revealing a severe multisystemic condition deserving complex management and with uncertain long-term prognosis. We consider the role of PIGW within the critical 17q12 region, which is already associated with genomic disorders caused by deletion or duplication and characterized by variable expressivity. Finally, we discuss PIGW dosage effects and a second hit hypothesis in human development and disease. 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

We describe the case of a 63-year-old man with pontocerebellar hypoplasia without the claustrum (CL). The patient had a history of cerebral palsy, intelligent disability, cerebellar atrophy, and seizures since birth. At age 61, brain computed tomography (CT) revealed significant cerebellar and brainstem atrophy. At age 63, he was admitted to our hospital for aspiration pneumonia. Although he was treated with medications, including antibiotics, he died one month after admission. The autopsy revealed a total brain weight of 815 g, with the small-sized frontal lobe, cerebellum, and pons. The cross-section of the fourth ventricle had a slit-like appearance, rather than the typical diamond shape. In addition, bilateral CLs were not observed. Apart from CL, no other missing brain tissue or cells could be identified. Microscopic examinations disclosed neurofibrillary tangles in the hippocampus but not in the cortex; however, neither senile plaques nor Lewy bodies were detected. No acquired lesions, including cerebral infarction, hemorrhage, or necrosis, were noted. We pathologically diagnosed the patient with pontocerebellar hypoplasia without CL. As there have been no prior reports of pontocerebellar hypoplasia lacking CL in adults, this case may represent a new subtype. Congenital CL deficiency is likely associated with abnormalities in brain development. CL may play a role in seizure activity, and the loss of bilateral CLs does not necessarily result in immediate death. Further studies are needed to clarify the functions of CL. Full article

Background: Congenital pneumonia is a common respiratory disease in newborns, often influenced by obstetric factors. Clinical diagnosis can be delayed, prompting interest in using systemic inflammatory indicators to predict various diseases. Objective: Our aim was to evaluate the predictive value of maternal systemic inflammatory indicators before delivery for congenital pneumonia in newborns. Methods: This retrospective study included full-term, singleton infants born at the Affiliated Huaian No. 1 People’s Hospital of Nanjing Medical University between January 2017 and December 2022. Infants admitted to the neonatal department within 48 h of birth were divided into two groups: 46 with clinical congenital pneumonia (the observation group) and 65 without congenital pneumonia (the control group). Maternal peripheral blood, complete blood cell count, and general condition within 72 h before delivery, as well as neonatal admission data were recorded. Systemic inflammatory indicators were assessed. Receiver operating characteristic curves were used to evaluate the predictive value of the maternal systemic inflammatory indicators before delivery for congenital pneumonia. A prediction model for neonatal pneumonia was constructed by combining systemic inflammatory indicators before delivery with logistic regression. The association between this prediction model and the prognosis of neonatal congenital pneumonia was examined. Results: Maternal systemic inflammatory indicators before delivery as predictive markers for congenital pneumonia and the regression model jointly constructed by NLR, MLR, SII, SIRI, and PIV before delivery predicted the occurrence of congenital pneumonia better. Maternal systemic inflammatory indicators correlated with the severity of congenital pneumonia in neonates. Conclusions: Maternal systemic inflammatory indicators before delivery have predictive value for congenital pneumonia in neonates, aiding early identification and treatment. Full article

Molar incisor hypomineralization (MIH) is a congenital disorder of the enamel tissue, characterized by a quantitative deficiency. In childhood, infections such as EBV, HSV-1, HCMV, or H. pylori may occur and cause various diseases. This study aimed to investigate the prevalence of HPV, EBV, HSV-1, HCMV, and H. pylori infections in two groups of children: children with molar incisor hypomineralization (MIH) and a control group, using molecular methods. The study group included 47 children aged between 6–13 years who had been diagnosed with MIH. The control group consisted of 42 children. The study found that, in the MIH group, the prevalence of HPV-16 was 6.38%, HPV-18 was 4.26%, EBV was 31.91%, HSV-1 was 4.26%, HCMV was 4.26%, and H. pylori was 12.77%. There were no significant differences in the prevalence of any of tested pathogens between the study and the control group (p > 0.05). However, the study found a higher prevalence of EBV infection in children who had smallpox/pneumonia by the age of 3 years. Ten children were found to have at least two pathogens present. Moreover, both groups had a high prevalence and activity of EBV. These findings provide new insights into the carriage of pathogens among children with MIH, providing new information for parents, scientists, and healthcare professionals. Full article

Interlobular septa thickening (ILST) is a common and easily recognized feature on computed tomography (CT) images in many lung disorders. ILST thickening can be smooth (most common), nodular, or irregular. Smooth ILST can be seen in pulmonary edema, pulmonary alveolar proteinosis, and lymphangitic spread of tumors. Nodular ILST can be seen in the lymphangitic spread of tumors, sarcoidosis, and silicosis. Irregular ILST is a finding suggestive of interstitial fibrosis, which is a common finding in fibrotic lung diseases, including sarcoidosis and usual interstitial pneumonia. Pulmonary edema and lymphangitic spread of tumors are the commonly encountered causes of ILST. It is important to narrow down the differential diagnosis as much as possible by assessing the appearance and distribution of ILST, as well as other pulmonary and extrapulmonary findings. This review will focus on the CT characterization of the secondary pulmonary lobule and ILST. Various uncommon causes of ILST will be discussed, including infections, interstitial pneumonia, depositional/infiltrative conditions, inhalational disorders, malignancies, congenital/inherited conditions, and iatrogenic causes. Awareness of the imaging appearance and various causes of ILST allows for a systematic approach, which is important for a timely diagnosis. This study highlights the importance of a structured approach to CT scan analysis that considers ILST characteristics, associated findings, and differential diagnostic considerations to facilitate accurate diagnoses. Full article

Background: The outcome data and predictors for mortality among patients with congenital heart disease (CHD) affected by COVID-19 are limited. A more detailed understanding may aid in implementing targeted prevention measures in potential future pandemic events. Methods: Based on nationwide administrative health insurance data, all the recorded in-hospital cases of patients with CHD with COVID-19 in 2020 were analyzed. The demographics, treatment details, as well as 30-day mortality rate were assessed. The associations of the patients’ characteristics with death were assessed using multivariable logistic regression analysis. Results: Overall, 403 patients with CHD were treated in- hospital for COVID-19 in 2020. Of these, 338 patients presented with virus detection but no pneumonia whilst, 65 patients suffered from associated pneumonia. The cohort of patients with pneumonia was older (p = 0.04) and presented with more cardiovascular comorbidities such as diabetes mellitus (p = 0.08), although this parameter did not reach a statistically significant difference. The 30-day mortality rate was associated with highly complex CHD (odds ratio (OR) 7.81, p = 0.04) and advanced age (OR 2.99 per 10 years, p = 0.03). No child died of COVID-related pneumonia in our dataset. Conclusions: COVID-19 infection with associated pneumonia chiefly affected the older patients with CHD. Age and the complexity of CHD were identified as additional predictors of mortality. These aspects might be helpful to retrospectively audit the recommendations and guide health politics during future pandemic events. Full article

Right-sided infective endocarditis due to methicillin-resistant Staphylococcus aureus (MRSA) is strongly associated with intravenous drug abuse, congenital heart disease, or previous medical treatment and is rare in healthy patients without a history of drug abuse. Here, we present a case of an 18-year-old male with no drug abuse history and no medical burden who was diagnosed with MRSA tricuspid valve endocarditis. Due to initial symptoms which indicated community-acquired pneumonia and radiological finding of interstitial lesions, empiric therapy with ceftriaxone and azithromycin was started. After the detection of Gram-positive cocci in clusters in several blood culture sets, endocarditis was suspected, and flucloxacillin was added to the initial therapy. As soon as methicillin resistance was detected, the treatment was switched to vancomycin. Transesophageal echocardiography established the diagnosis of right-sided infective endocarditis. A toxicological analysis of hair was carried out, and no presence of narcotic drugs was found. After six weeks of therapy, the patient was fully recovered. Exceptionally, tricuspid valve endocarditis can be diagnosed in previously healthy people who are not drug addicts. As the clinical presentation commonly resembles a respiratory infection, a misdiagnosis is possible. Although MRSA rarely causes community-acquired infections in Europe, clinicians should be aware of this possibility. Full article

Since COVID-19 first emerged in Wuhan, China, and was declared a global pandemic by the WHO, researchers have been meticulously studying the disease and its complications. Studies of severe COVID-19 disease among pediatric populations are scarce, leading to difficulty in establishing a comprehensive management approach. Case presentation: This report outlines a case of a long-standing combined iron and vitamin B12 deficiency anemia in a three-year-old treated at the Children’s Clinical University Hospital due to severe COVID-19 disease. The patient’s clinical condition coincided with the derangement of biomarkers described in the literature, including lymphopenia, increased neutrophil/lymphocyte ratio (NLR), decreased lymphocyte/C-reactive protein ratio (LCR), as well as elevated inflammatory markers such as CRP and D-dimers. The patient developed severe bilateral pneumonia requiring invasive ventilation, high-flow oxygen, immunosuppressive therapy with dexamethasone and tocilizumab, and supplementation of anemia deficits with blood transfusion and vitamin B12 administration. Conclusions: Our findings are consistent with the most important biomarkers reported in the literature indicative of severe disease progression. Additionally, poorly controlled anemia may be suggested as a potentially important risk factor for severe COVID-19 disease among children. However, additional quantitative research is required to establish the nature and severity of the risk. Full article