23 research outputs found
Antenatal diagnosis of congenital abdominal wall malformations, a "normality"
Universitatea de Medicină şi Farmacie „Grigore T. Popa”, Facultatea de Medicină, Departamentul „Chirurgicale II”, Disciplina
Chirurgie şi Ortopedie Pediatrică, Spitalul Clinic de Urgenţe pentru Copii “Sfânta Maria” Iaşi, România, Al XIII-lea Congres al Asociației Chirurgilor „Nicolae Anestiadi” și al III-lea Congres al Societății de Endoscopie, Chirurgie miniminvazivă și Ultrasonografie ”V.M.Guțu” din Republica MoldovaMedicina materno-fetală a devenit în ultimele decenii o parte importantă a sistemului de îngrijiri medicale. Dezvoltarea rapidă a
tehnologiilor ultrasonografice a permis acumularea de informaţii preţioase asupra evoluţiei normale sau patologice a dezvoltării
intrauterine a fătului, astfel încât depistarea antenatală a malformaţiilor congenitale a devenit o regulă şi nu o excepţie. În paralel cu
creşterea frecvenţei în timp a anomaliilor de perete abdominal anterior se observă şi creşterea ratei de diagnostic antenatal. Datorită
riscului crescut al asocierii defectelor de perete abdominal anterior cu anomalii cromozomiale sau cu alte malformaţii congenitale grave, diagnosticarea antenatală a acestor anomalii este de o importanţă crucială pentru prognosticul fetal şi consilierea familială.
Astfel, detectarea antenatală a malformaţiilor congenitale grave oferă părinţilor posibilitatea să se pregătească din punct de vedere
psihologic pentru apariţia unui copil cu handicap şi să planifice naşterea în cadrul unui centru medical dotat cu serviciu de terapie
intensivă şi chirurgie neonatală. În condiţiile asocierii unor anomalii severe detectate antenatal, precum trisomiile 13 şi 18, pentalogia
Cantrell, extrofia cloacală sau sindromul prune belly, părinţii pot lua în consideraţie şi posibilitatea efectuării unui avort terapeutic. La
momentul actual, screening-ul biochimic al serului matern împreună cu ecografia antenatală sunt metodele standard de realizare a
diagnosticului antenatal al defectelor de perete abdominal anterior, dar în situaţii particulare se poate recurge la investigaţii invazive,
ecografie tridimensională, patru-dimensională sau RMN fetal, metode de diagnostic mult mai fiabile.Maternal-fetal medicine has become an important part of the healthcare system over the past decades. The rapid development of
ultrasound technologies has allowed the accumulation of valuable information on the normal or pathological evolution of the intrauterine
development of the fetus, so the antenatal detection of congenital malformations has become a rule and not an exception. In parallel
with the increase in the frequency of abdominal wall abnormalities in time, an increase in the antenatal diagnostic rate is also observed.
Due to the increased risk of association of anterior abdominal wall defects with chromosomal abnormalities or other severe congenital
malformations, the antenatal diagnosis of these anomalies is of crucial importance for fetal prognosis and family counseling. Thus,
antenatal detection of serious congenital malformations gives parents the opportunity to prepare themselves psychologically for the
appearance of a disabled child and plan birth at a medical center with intensive unit care and neonatal surgery. Given the association
of severe antenatal anomalies such as trisomy 13 and 18, Cantrell pentalogy, cloacal extrophy or prune belly syndrome, parents may
also consider the possibility of a therapeutic abortion. At present, biochemical screening of maternal serum combined with antenatal
ultrasound is the standard method of performing the antenatal diagnosis of anterior abdominal wall defects, but in particular situations,
invasive investigations, three-dimensional, four-dimensional or fetal MRI as more reliable diagnostic methods, can be used
The Impact of the Main Negative Socio-Economic Factors on Female Fertility
The negative relationship between fertility and income is well known to economists and demographers. Developed countries have experienced a remarkable decline in their fertility rate as they have become richer. Lifestyle choices can affect a woman’s ability to conceive. Tobacco use and heavy drinking is associated with an increased risk of ovulation disorders, and being overweight or significantly underweight can inhibit normal ovulation. Our research is focused on evaluating the main risk factors that influence female fertility. We assembled a country-specific dataset on birth rate and socio-economic factors for 171 countries, using data integrated from publicly available data sources. The regression model shows that the negative factor with the greatest impact on female fertility is represented by the level of income per capita. The negative effects of smoking, alcohol consumption, and body weight on female fertility are also demonstrated, but with a lower impact compared to the average income per capita
The Impact of the Main Negative Socio-Economic Factors on Female Fertility
The negative relationship between fertility and income is well known to economists and demographers. Developed countries have experienced a remarkable decline in their fertility rate as they have become richer. Lifestyle choices can affect a woman’s ability to conceive. Tobacco use and heavy drinking is associated with an increased risk of ovulation disorders, and being overweight or significantly underweight can inhibit normal ovulation. Our research is focused on evaluating the main risk factors that influence female fertility. We assembled a country-specific dataset on birth rate and socio-economic factors for 171 countries, using data integrated from publicly available data sources. The regression model shows that the negative factor with the greatest impact on female fertility is represented by the level of income per capita. The negative effects of smoking, alcohol consumption, and body weight on female fertility are also demonstrated, but with a lower impact compared to the average income per capita
Urachal Carcinoma, An Unusual Possibility of Hematuria; Case Report and Literature Review
Urachal cancer is very rare, accounting for only 0.5–2% of bladder-associated malignancies and 0.01% of all cancers in adults. It has an insidious appearance, an aggressive behavior and a poor prognosis. The most common symptoms are hematuria and the presence of a palpable hypogastric mass. The scarcity of cases and the low number of studies carried out explains the lack of an evidence-based management strategy, but it seems that surgical treatment (open, laparoscopy or robot-assisted) represents the gold standard, while neoadjuvant and adjuvant chemotherapy or radiotherapy has a limited impact on overall survival. Since mucinous cystadenocarcinoma of urachal origin is a very uncommon pathological condition the differential diagnosis may be difficult and pathological investigations have to elucidate this disorder. It is worth mentioning the psychological impact on the patient in addition to the medical aspects. A rare condition is associated with heightened risk for mental health and psychosocial difficulties and this must be taken into account in the subsequent follow-up of the patient. In order to increase awareness of this rare entity we report a case of a 40-year-old male with a urachal adenocarcinoma who was treated surgically, with a favorable outcome. We also perform a brief literature review about this type of tumor
Nutritional Approach in Selected Inherited Metabolic Cardiac Disorders—A Concise Summary of Available Scientific Evidence
Inborn errors of metabolism (IMDs) are a group of inherited diseases that manifest themselves through a myriad of signs and symptoms, including structural or functional cardiovascular damage. The therapy of these diseases is currently based on enzyme-replacement therapy, chaperone therapy or the administration of supplements and the establishment of personalized dietary plans. Starting from the major signs identified by the pediatric cardiologist that can indicate the presence of such a metabolic disease—cardiomyopathies, conduction disorders or valvular dysplasias—we tried to paint the portrait of dietary interventions that can improve the course of patients with mitochondrial diseases or lysosomal abnormalities. The choice of the two categories of inborn errors of metabolism is not accidental and reflects the experience and concern of the authors regarding the management of patients with such diagnoses. A ketogenic diet offers promising results in selected cases, although, to date, studies have failed to bring enough evidence to support generalized recommendations. Other diets have been successfully utilized in patients with IMDs, but their specific effect on the cardiac phenotype and function is not yet fully understood. Significant prospective studies are necessary in order to understand and establish which diet best suits every patient depending on the inherited metabolic disorder. The most suitable imagistic monitoring method for the impact of different diets on the cardiovascular system is still under debate, with no protocols yet available. Echocardiography is readily available in most hospital settings and brings important information regarding the impact of diets on the left ventricular parameters. Cardiac MRI (magnetic resonance imaging) could better characterize the cardiac tissue and bring forth both functional and structural information
“BINGE DRINKING”: CLINICAL AND SOCIAL ASPECTS IN PEDIATRIC EMERGENCIES – CASE PRESENTATION
Specialized studies and practical experience indicate that the primary cause for ethyl alcohol intoxication in teenagers is the binge-drinking type of alcohol consumption. Binge-drinking entails the episodic paroxysmal ingestion of a large quantity of alcohol over a short period of time, with both short and long term clinical and social implications. The article presents the features and evolution of a 17-year-old male patient after binge-drinking alcohol. Such cases are medical, psychiatric and forensic medicine emergencies in a pediatric emergency department
ORAL MANIFESTATIONS IN PATIENTS WITH CYSTIC FIBROSIS
Objective: The purpose of this paper is to review literature data related to oral manifestations in patients with cystic fibrosis and to emphasize the importance of prevention and early identification, as much as possible, of these manifestations in order to increase the patients’ quality of life. Materials and method: Articles published in international indexed databases were evaluated, mostly from PubMed, using the following search terms: cystic fibrosis, oral manifestations, dental, periodontal, enamel, caries, in combination with several synonyms such as teeth, oral cavity, oral mucosa, periodontitis, carious lesions. Results: Patients with cystic fibrosis have numerous modifications in the composition and proprieties of saliva which lower resistance to microorganisms. Studies showed higher prevalence of enamel disorders in permanent dentition, and enamel hypoplasia was the most frequent defect. On the other hand, data regarding carious lesions showed a lower risk of occurrence at patients with cystic fibrosis compared to control group. Conclusions: Stomatologists should be part of cystic fibrosis multidisciplinary team, as the oral modifications are frequent at the patients diagnosed with this disorder
An Up-to-Date Narrative Review on Congenital Heart Disease Percutaneous Treatment in Children Using Contemporary Devices
Background: Congenital heart pathology has a significant burden regarding morbidity and mortality in the pediatric population. Several transcatheter interventions and devices have been designed as an alternative to surgical repair. Percutaneous interventions have been proven to yield good results in most cases but with less stress and trauma than that attributed to surgical treatment, especially in frail pediatric patients. We aimed to review the literature and to investigate the feasibility and efficacy of transcatheter interventions and implantable devices for congenital heart disease management in children. Methods: We performed a search in Scopus and MEDLINE databases using prespecified keywords to retrieve clinical studies published between 2000 and 2021. Results: This article provides an up-to-date review regarding the applicability of interventional techniques in simple inter-atrial or inter-ventricular defects, and in challenging congenital defects, such as hypoplastic left heart syndrome, tetralogy of Fallot, or coronary artery fistula. Furthermore, we reviewed recent indications for defibrillator and cardiac resynchronization therapy, and new and promising devices currently being tested. Conclusion: Transcatheter treatment represents a feasible and efficient alternative to surgical repair of congenital heart defects. Novel devices could extend the indications and possibilities of percutaneous interventions in pediatric patients with congenital heart diseases
Cardiotoxicity of Electronic Cigarettes and Heat-Not-Burn Tobacco Products—A Problem for the Modern Pediatric Cardiologist
Electronic nicotine delivery systems (ENDS) have become increasingly popular among adolescents, either as an alternative to conventional cigarettes (CCs) or as a newly acquired recreational habit. Although considered by most users as a safer option for nicotine intake, these devices pose significant health risks, resulting in multisystem damage. Heat-not-burn products, which, unlike ENDS, contain tobacco, are also alternatives to CCs that consumers use based on the idea that their safety profile is superior to that of cigarettes. Recent studies in the USA and EU show that adolescents are particularly prone to using these devices. Pediatric cardiologists, as well as other healthcare professionals, should be aware of the complications that may arise from acute and chronic consumption of these substances, considering the cardiovascular damage they elicit. This article summarized the known data about the impact of ENDS on the cardiovascular system, with emphasis on the pathophysiological and molecular changes that herald the onset of systemic lesions alongside the clinical cardiovascular manifestations in this scenario
Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?
In the modern era, coronary artery disease (CAD) has become the most common form of heart disease and, due to the severity of its clinical manifestations and its acute complications, is a major cause of morbidity and mortality worldwide. The phenotypic variability of CAD is correlated with the complex etiology, multifactorial (caused by the interaction of genetic and environmental factors) but also monogenic. The purpose of this review is to present the genetic factors involved in the etiology of CAD and their relationship to the pathogenic mechanisms of the disease. Method: we analyzed data from the literature, starting with candidate gene-based association studies, then continuing with extensive association studies such as Genome-Wide Association Studies (GWAS) and Whole Exome Sequencing (WES). The results of these studies revealed that the number of genetic factors involved in CAD etiology is impressive. The identification of new genetic factors through GWASs offers new perspectives on understanding the complex pathophysiological mechanisms that determine CAD. In conclusion, deciphering the genetic architecture of CAD by extended genomic analysis (GWAS/WES) will establish new therapeutic targets and lead to the development of new treatments. The identification of individuals at high risk for CAD using polygenic risk scores (PRS) will allow early prophylactic measures and personalized therapy to improve their prognosis