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Background: Respiratory distress syndrome (RDS) is the primary cause of respiratory failure in preterm infants, but it also affects 5–7% of term infants. Dysfunctions in pulmonary surfactant metabolism, resulting from mutations of the lung surfactant genes, are rare diseases, ranging from fatal neonatal RDS to interstitial lung disease, associated with increased morbidity and mortality. This study aims to clarify the clinical significance of ABCA3 variants found in a specific family case, as existing data in the literature are inconsistent. Material and Methods: A family case report was conducted; targeted panel genetic testing identified a variant of the SFTPB gene and two variants of ABCA3 genes. Comprehensive research involving a systematic review of PubMed, Google Scholar databases, and genome browsers was used to clarify the pathogenicity of the two ABCA3 variants found in the index patient. Advanced prediction tools were employed to assess the pathogenicity of the two ABCA3 variants, ensuring the validity and reliability of our findings. Results: The index case exhibited fatal neonatal RDS. Genetic testing revealed the presence of the SFTPB p.Val267Ile variant, which was not previously reported but is a benign variant based on family genetic testing and history. Additionally, two ABCA3 gene variants were identified: c.697C>T, not yet reported, and c.838C>T. These variants were found to affect ABCA3 protein function and were likely associated with neonatal RDS. Prediction tools and data from nine other cases in the literature supported this conclusion. Conclusions: Based on in silico predictors, an analysis of the presented family, and cases described in the literature, it is reasonable to consider reclassifying the two ABCA3 variants identified in the index case as pathogenic/pathogenic. Reclassification will improve genetic counseling accuracy and facilitate correct diagnosis. [ABSTRACT FROM AUTHOR]

Background: Colorectal cancer is a major health problem that still causes many deaths worldwide. Neuropeptides, such as substance P and calcitonin gene-related peptide, play the neurotransmitter and neurohormone roles that increase tumor invasiveness and metastasis potential. This study aimed to see whether these neuropeptides and their receptors—neurokinin 1 receptor and calcitonin receptor-like receptor—correlate with the diagnosis stage, tumor differentiation grade, and different patient characteristics in colorectal cancer and also to compare them. Methods: We performed serum analyses of substance P and CGRP levels in patients with colorectal cancer and also the immunohistochemical analysis of their receptors in colorectal tumors and then correlated them with the disease stage and with different tumor characteristics. Results: We demonstrated that both substance P and calcitonin gene-related peptide had increased levels in colorectal cancer and that their levels correlated with the stage of the disease and with the tumor differentiation grade. We also demonstrated the correlation of NK-1R and CRLR higher immunohistochemical scores with advanced and poorly differentiated tumors. Conclusions: This study demonstrates that the neuropeptides SP and CGRP and their receptors NK-1R and CRLR could play a role in the pathogenesis of colorectal cancer, and they could be used as diagnostic and prognostic markers and could represent potential therapeutic targets. [ABSTRACT FROM AUTHOR]

As the population ages, promoting healthy aging through targeted interventions becomes increasingly crucial. Growing evidence suggests that dietary interventions can significantly impact this process by modulating fundamental molecular pathways. This review focuses on the potential of targeted dietary strategies in promoting healthy aging and the mechanisms by which specific nutrients and dietary patterns influence key pathways involved in cellular repair, inflammation, and metabolic regulation. Caloric restriction, intermittent fasting, the Mediterranean diet, as well as the ketogenic diet showed promising effects on promoting healthy aging, possibly by modulating mTORC1 AMPK, an insulin signaling pathway. By understanding the intricate interplay between diet and molecular pathways, we can develop personalized dietary strategies that not only prevent age-related diseases, but also promote overall health and well-being throughout the aging process. [ABSTRACT FROM AUTHOR]

Obesity is linked to the increasing prevalence of metabolic syndrome (MetS), even among the pediatric population. Some inflammatory and cardioembolic indexes derived from routine laboratory tests have captivated the attention of the medical community. Objectives: The aim of our study was to evaluate whether these markers are effective in distinguishing varying degrees of obesity and MetS in children and adolescents. Methods: We conducted a retrospective study. A total of 71 children and adolescents, aged between 6 and 16, were included in the study. Among them, 5 were overweight, 35 had obesity, and 31 had severe obesity. According to the NCEP ATP III criteria, 32 individuals had Metabolic Syndrome (MetS), while 39 did not have MetS. Results: The MetS positive group had higher values of TG/HDL-C (p < 0.001), TC/HDL-C (p < 0.001), MHR (p = 0.015), LHR (p = 0.001), NHR (p = 0.001), atherogenic index of plasma (p < 0.001), and PHR (p < 0.001). ESR, NLR, PLR, and SII did not progressively increase with the number of MetS criteria. The ROC curve analysis demonstrated that markers such as TG/HDL-C, the atherogenic index of plasma, TC/HDL-C, LHR, NHR, and PHR were effective in identifying MetS in children and adolescents with obesity. Conclusions: In conclusion, we determined that some novel inflammatory and cardioembolic indexes are useful in assessing MetS and obesity in children and adolescents. [ABSTRACT FROM AUTHOR]

Colorectal cancer is one of the most widespread types of cancer that still causes many deaths worldwide. The development of new diagnostic and prognostic markers, as well as new therapeutic methods, is necessary. The calcitonin gene-related peptide (CGRP) neuropeptide alongside its receptor calcitonin receptor-like receptor (CRLR) could represent future biomarkers and a potential therapeutic target. Increased levels of CGRP have been demonstrated in thyroid, prostate, lung, and breast cancers and may also have a role in colorectal cancer. At the tumor level, it acts through different mechanisms, such as the angiogenesis, migration, and proliferation of tumor cells. The aim of this study was to measure the level of CGRP in colorectal cancer patients' serum by enzyme-linked immunosorbent assay (ELISA) and determine the level of CGRP and CRLR at the tumor level after histopathological (HP) and immunohistochemical (IHC) analysis, and then to correlate them with the TNM stage and with different tumoral characteristics. A total of 54 patients with newly diagnosed colorectal adenocarcinoma were evaluated. We showed that serum levels of CGRP, as well as CGRP and CRLR tumor level expression, correlate with the TNM stage, with local tumor extension, the presence of lymph node metastasis, and distant metastasis, and also with the tumor differentiation degree. CGRP is present in colorectal cancer from the incipient TNM stage, with levels increasing with the stage, and can be used as a diagnostic and prognostic marker and may also represent a potentially new therapeutic target. [ABSTRACT FROM AUTHOR]

The nutritional status of children is always a concern for medical professionals. Increasingly, obesogenic factors have created a new global epidemic. Obesity is characterized by persistent inflammation, which can have detrimental effects on the growth and development of children. Iron and ferritin are both important factors to consider when evaluating these children due to their role in the pathophysiology of chronic inflammation. Recently, ultrasonographic evaluation seems to be an increasingly used method in pediatric clinical practice. In this study, we included 98 children aged 6–14 years, 72 of whom were obese and 26 had normal weight. The data obtained indicated that there was an association between low iron and increased ferritin levels, aspects of non-alcoholic fatty liver visualized by ultrasonography, and the degree of fibrosis assessed elastographically. Ultrasonography can help us identify liver damage, but the possibility of identifying an association with other paraclinical investigations such as iron and ferritin levels can be cumulative. In this way, the assessment can be more complex, as the child benefits from comprehensive evaluation and management. The results drew attention to non-invasive, easy-to-perform, and low-cost methods of assessing obese children in terms of iron metabolism and structural liver changes. [ABSTRACT FROM AUTHOR]

Background: Social prescribing initiatives are tailored coaching programs created to assist participants in improving their personal circumstances and might constitute a creative way to enhance public and preventive health as we work toward providing universal financially sustainable healthcare. Methods: We conducted a scoping review with the aim of summarizing the main global trends on social prescribing and to identify the existing resources and potential targets of social prescribing in Romania. Results: One of the main concerns that arose from this review is the lack of defined pathways to access social programs and the lack of link workers, recognized as a valuable form of support in directing people toward the most appropriate intervention, necessary to increase long-term sustainability. We also acknowledge the importance of primary care in social prescribing, especially in prevention. The level of awareness and the capacity of primary care providers to identify the need for social prescription to increase the awareness of resources and encourage teamwork should be increased. Conclusions: By focusing on these areas, we can enhance the health and well-being of the population and fully realize the benefits of social prescribing in Romania. Further research and collaboration on social prescribing are crucial for optimizing its impact in Romania. [ABSTRACT FROM AUTHOR]

Non-alcoholic fatty liver disease (NAFLD) represents a complex chronic condition, which in the absence of screening–monitoring markers and effective standardized treatment is one of the most important issues in pediatric pathology. In this study, we analyzed the role of vitamin D supplementation in obese children with/without NAFLD and the impact on the components of the associated metabolic syndrome (MS). The study included 22 children with simple obesity (SO) and 50 with NAFLD, aged between 6 and 14 years, who received regimen-based therapy or vitamin D supplementation in case of deficiency. Anthropometric and paraclinical data associated with MS were statistically compared before and after treatment. It was observed that there was a statistical association of NAFLD with MS components, which were present both in SO and in the 6–9 years group. Vitamin D deficiency was associated with the presence of obesity, NAFLD and MS components, and correction of the deficiency induced a tendency to normalize the associated parameters. In the case of a treatment strictly based on the regimen, we found decreases in vitamin D values and additional alteration of some parameters. Supplementation with vitamin D potentiates the effects of the specific regimen, and the effects seem to be dependent on the MS components. [ABSTRACT FROM AUTHOR]

The concept of paraneoplastic syndromes encompasses a spectrum of indirect clinical manifestations caused by secretion of bioactive products by malignant cells. Paraneoplastic glomerulopathy represent a distinct clinical entity where nephrotic syndrome can arise as a manifestation of underlying malignancies, particularly solid tumors. Membranous nephropathy is notably associated with such malignancies, highlighting the intricate relationship between nephrotic syndrome and cancer. The present study reports the case of a 44-year-old Caucasian male, smoker (22 pack-years) and chronic ethanol consumer who presented in the Emergency County Hospital of Craiova in March 2018 with abdominal distension, genital and leg edema and no prior medical history. Laboratory tests revealed inflammatory syndrome (erythrocyte sedimentation rate=110 mm/h, fibrinogen, 150 mg/dl, high levels of C reactive protein=6.87 mg/dl), as well as hypoproteinemia (total protein levels=3.90 g/l), hypertriglyceridemia=213 mg/dl, hypercholesterolemia=475 mg/dl, total urinary protein excretion of 12,500 mg/24 h and normal levels of urea (38 mg/dl) and creatinine (0.90 mg/dl). After meeting the diagnostic criteria for nephrotic syndrome (edema, proteinuria, hypoalbuminemia, and hyperlipidemia, it was investigated whether the syndrome was primary or secondary in origin. Notably, an unexplained inflammatory syndrome in conjunction with elevated tumor marker levels (carbohydrate antigen 19-9, 82.47 U/ml; Carcinoembryonic antigen-CEA=9.46 ng/ml) prompted a thorough imagistic investigation, using computer tomography. A polyp was discovered during colonoscopy, prompting a biopsy. The presence of adenocarcinoma was confirmed by histopathological analysis. The only clinical manifestation of the colonic malignancy was the symptomatic presentation of nephrotic syndrome, which led to early detection of the underlying cancer. Paraneoplastic nephropathy connects kidney disease with systemic cancer, showing that renal symptoms may aid in diagnosing hidden malignancies. Nephrotic syndrome, especially membranous nephropathy, is associated with various solid tumors. The present case demonstrated that paraneoplastic syndrome, though rare, may lead to early cancer detection. Ongoing research is essential for improving understanding, targeted therapy and patient management. [ABSTRACT FROM AUTHOR]

Disturbance of the intercellular adhesion system represents a basic biomolecular mechanism in gastric carcinogenesis. Claudin 4 is member of a protein family involved in maintaining homeostasis and epithelial integrity. In this study, we analyzed the immunoexpression of Claudin 4 in 58 cases of gastric adenocarcinomas, in relation to the main histopathological parameters of aggressiveness, the reactions obtained being evaluated through the intensity of the reactions and the number of positive cells. Positive membranous reactions of Claudin 4 were observed in all cases, in tumor cells and some stromal elements, but in some high grade gastric adenocarcinomas also cytoplasmic immunostaining was present. Claudin 4 high scores were associated with tubular, tubulopapillary and hepatoid adenocarcinomas, of low grade and in early stages, aspects that suggest the usefulness of the marker in evaluating the aggressiveness of gastric epithelial tumors. [ABSTRACT FROM AUTHOR]

Gastric adenocarcinomas are lesions that raise important issues in clinical practice, due to their incidence and biological behavior. Over time, various systems have been used for classifying and grading of gastric adenocarcinomas, in the hope of increasing the diagnostic accuracy. In this study we statistically analyzed 112 cases of gastric adenocarcinomas in relation to different classification and grading systems, in order to identify their efficacy and concordance in the histopathological diagnosis. The results indicated a significant association of the Lauren and World Health Organization 2019 classifications and also between these and the three-tier and two-tier grading systems, which supports their practical utility in establishing the diagnosis and assessment of the tumor aggressiveness, for the differentiated therapy. [ABSTRACT FROM AUTHOR]

Endometrioid endometrial carcinomas (EEC) are common malignant lesions of the female genital tract, with incidence and risk factors that raise issues to improve histopathological prognostic factors. The study included 50 EEC cases, for which the clinicopathological parameters represented by age, risk factors, tumor grade, histological differences, invasion pattern, tumor stage and association of endometrial hyperplasia were analyzed statistically. The results indicated the predominance of EEC in the 7th decade of life, with associated risk factors (78%), more frequently well differentiated (52%), with no other specifications related to differentiation (NOS, 60%), with irregular invasion pattern (66%) in<50% of the myometrial wall (48%). Irregular pattern, microcystic, elongated, and fragmented (MELF) pattern and myoinvasion associated with vascular invasion (MVI) pattern were significantly associated with high grade and advanced stage tumors. With the exception of EEC-NOS and squamous differentiation, all other tumors were associated with low grade (G1). In this study there was a tendency to associate the age group of 60-69 years with the presence of endometrial hyperplasia and with high grade and advanced stage. Apart from the high grade and advanced stage, in the aggressive profile of the EEC can be included as the clinicopathological parameters the 7th decade of life and the irregular, MELF and MVI invasion patterns. [ABSTRACT FROM AUTHOR]

Chronic tonsillitis are frequent in pediatric pathology with numerous involved risk factors and pathogenic mechanisms. In this study, epidemiological data and biochemical values addressed to inflammation and mineral, lipid and hepatic metabolism were analyzed for 37 children of school age with chronic tonsillitis. We found that in the majority of cases, chronic tonsillitis was associated with increasing number of blood circulating inflammatory cells, high values of transaminases, cholesterol, triglycerides and low values of procalcitonin, C-reactive protein, calcium, vitamin D and serum iron. The results indicated relations of the biochemical profile analyzed with risk factors and systemic mechanisms for initiation and maintenance of chronic tonsillitis, aspects that can be used to optimize the prognosis of chronic tonsillitis in children. [ABSTRACT FROM AUTHOR]

Chronic infections of the Waldeyer's lymphatic ring constitute a frequent pathology in school age, one of the pathogenic mechanisms involving low levels of vitamin D. In this study, we analyzed integrated the clinico-epidemiological aspects, the risk factors and the serum level of vitamin D for 51 school aged children who presented chronic inflammation in various levels of the Waldeyer's ring. Most inflammations were present in females patients (80.4%), from the urban areas (66.6%), being localized in palatine tonsils (64.7%), in patients with deficient prophylaxis of hypovitaminosis D (68.6%) and low serum levels of vitamin D (72.5%). The results highlight the importance of maintaining a normal status of vitamin D, especially in recurrent infectious context. [ABSTRACT FROM AUTHOR]