Publications by authors named "Lacramioara Ionela Butnariu"

A physically active lifestyle offers multiple benefits, including lowering the risk of cardiovascular disease, lowering body-mass index (BMI), and, last but not least, improving the quality of life. However, there are still disincentives to physical activity in children with heart diseases due to the high protection of parents and the scarcity of data in the literature. The purpose of this paper is to help pediatricians and pediatric cardiologists identify the type of physical activity allowed in children with congenital cardiac malformations, thus minimizing the risk of major adverse effects, such as acute coronary syndrome and sudden cardiac death.

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Pulmonary hypertension is a complex condition that has distinct characteristics in pediatric populations. This review explores the important role of early childhood nutrition in the growth, progression, and management of pediatric pulmonary hypertension. Nutritional deficiencies, including those of vitamins C, D, and iron, are closely linked to worse outcomes in children with this disease, emphasizing the importance of early intervention to prevent malnutrition and promote growth.

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Hereditary thoracic aorta diseases (HTADs) are a heterogeneous group of rare disorders whose major manifestation is represented by aneurysm and/or dissection frequently located at the level of the ascending thoracic aorta. The diseases have an insidious evolution and can be encountered as an isolated manifestation or can also be associated with systemic, extra-aortic manifestations (syndromic HTADs). Along with the development of molecular testing technologies, important progress has been made in deciphering the heterogeneous etiology of HTADs.

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Maturity-onset diabetes of the young (MODY) is part of the heterogeneous group of monogenic diabetes (MD) characterized by the non-immune dysfunction of pancreatic β-cells. The diagnosis of MODY still remains a challenge for clinicians, with many cases being misdiagnosed as type 1 or type 2 diabetes mellitus (T1DM/T2DM), and over 80% of cases remaining undiagnosed. With the introduction of modern technologies, important progress has been made in deciphering the molecular mechanisms and heterogeneous etiology of MD, including MODY.

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  • The management of neonates with meconium ileus (MI) and cystic fibrosis (CF) varies widely across different countries and lacks standardization, prompting a systematic review to analyze recent data.
  • A total of 566 publications were reviewed, but only 8 met the inclusion criteria focused on managing MI in neonates, highlighting the importance of prenatal predictors for surgical outcomes.
  • Findings suggest that conservative treatment can work in some cases, but there’s insufficient robust research on surgical protocols for complicated MI, with reoperation rates of 18%-38% and a variable mortality rate of 0%-8%.
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  • - Congenital hyperinsulinism (CHI) is a rare disorder primarily affecting glucose metabolism, leading to severe hypoglycemia, especially in newborns and young children; it often results from mutations in genes related to ATP-sensitive potassium channels.
  • - In two case studies, distinct genetic mutations in patients with early-onset hyperinsulinemic hypoglycemia showed varying clinical presentations: one with a severe diffuse form linked to a homozygous mutation, and the other with a focal form linked to a heterozygous mutation.
  • - The importance of molecular genetic testing is highlighted for diagnosing and managing CHI, as it can guide treatment options and emphasize the need for genetic counseling for affected families.
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Hemophiliacs can develop cardiovascular diseases, including valvulopathies of various etiologies and severities. Some require surgical treatment. Performing cardiac surgery in hemophiliacs is a challenge because they maintain an increased risk of bleeding throughout their lives.

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(1) Background: Nanomedicine, incorporating various nanoparticles and nanomaterials, offers significant potential in medical practice. Its clinical adoption, however, faces challenges like safety concerns, regulatory hurdles, and biocompatibility issues. Despite these, recent advancements have led to the approval of many nanotechnology-based products, including those for pediatric use.

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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by the progressive replacement of the normal myocardium by fibroadipocytic tissue. The importance of an early diagnosis is supported by a higher risk of sudden cardiac death in the pediatric population. We reviewed the literature on diagnosis, risk stratification, and prognosis in the pediatric population with ARVC.

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Hemangiomas are vascular tumors resulting from the proliferation of endothelial-like cells; they are the most common childhood tumors, affecting approximately 5-10% of newborns and infants. Besides hemangiomas, which are definitely benign tumors despite their overgrowth potential, there are other vascular tumors like hemangioendotheliomas, which may display intermediate characteristics between benign hemangiomas and highly malignant angiosarcomas. Standard therapy may be constricted by serious adverse effects, high cost, or traumatic influence.

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Numerous interrelationships are known in the literature that have the final effect of unmasking or influencing various pathologies. Among these, the present article aims to discuss the connection between systemic lupus erythematosus (SLE) and the human microbiome. The main purpose of this work is to popularize information about the impact of dysbiosis on the pathogenesis and evolutionary course of pediatric patients with SLE.

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(1) Background: Multiple sclerosis (MS), a chronic progressive neurological disorder which affects the central nervous system (CNS), can result in disorders of all the functions controlled by the CNS: motor, sensory, cognitive and emotional. Physical therapy (PT), conducted through proprioceptive neuromuscular facilitation (PNF) techniques, can be customized to the individual patient's needs and has the potential to improve the patient's evolution. This study aims to establish if PT based on PNF techniques has a beneficial role in MS treatment.

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Coronavirus disease 2019 (COVID-19) is a complex infectious disease caused by the SARS-CoV-2 virus, and it currently represents a worldwide public health emergency. The pediatric population is less prone to develop severe COVID-19 infection, but children presenting underlying medical conditions, such as diabetes mellitus, are thought to be at increased risk of developing more severe forms of COVID-19. Diabetic children face new challenges when infected with SARS-CoV-2.

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Article Synopsis
  • * Advances in molecular genetics and genome analysis have improved our understanding of the genetic factors influencing lipid metabolism disorders related to MetS, revealing a mix of monogenic and complex traits.
  • * Future research aims to identify new genetic factors and develop targeted therapies, while also utilizing polygenic risk scores to pinpoint individuals at higher risk of atherogenic dyslipidemia for personalized prevention and treatment.
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  • - Skin cancers, notably melanoma, basal cell carcinoma, and squamous cell carcinoma, necessitate a team-based treatment strategy, as new guidelines highlight advancements in managing these diseases.
  • - Melanoma shows higher mortality rates in Eastern Europe, emphasizing the need for increased prevention and detection efforts in that region, while BCC and cSCC remain the most prevalent and continue to rise in incidence.
  • - Treatment options vary, with sebaceous carcinoma requiring early surgical intervention like Mohs micrographic surgery, and primary cutaneous lymphomas demanding distinct management approaches, underscoring the importance of specialized care in skin cancer treatment.
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Factor V (FV) Leiden and prothrombin G20210A are the most common hereditary thrombophilias. While their role in venous thromboembolism is well known, there are still uncertainties regarding their relationship with arterial thrombotic events, especially coronary ones. Our research, based on an in-depth analysis of the available literature, provides up-to-date information on the relationship between FV Leiden and prothrombin G20210A and acute myocardial infarction.

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Celiac disease (CD) is a multifactorial disorder, defined by a complex interplay of genetic and environmental factors. Both genetic predisposition and dietary exposure to gluten are essential factors in triggering CD. However, there is proof that their presence is necessary, but not sufficient, for disease development.

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Omphalocele is the most common ventral abdominal wall defect. Omphalocele is associated with other significant anomalies in up to 80% of cases, among which the cardiac ones are the most frequent. The aim of our paper is to highlight, through a review of the literature, the importance and frequency of association between the two malformations and what impact this association has on the management and evolution of patients with these pathologies.

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Unlabelled: Abdominal wall defects are serious birth defects, with long periods of hospitalization and significant costs to the medical system. Nosocomial infection (NI) may be an additional risk factor that aggravates the evolution of newborns with such malformations.

Methods: in order to analyze the factors that may lead to the occurrence of NI, we performed a retrospective study over a period of thirty-two years (1990-2021), in a tertiary children's hospital; 302 neonates with omphalocele and gastroschisis were eligible for the study.

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Pediatric systemic lupus erythematosus is a chronic autoimmune disorder with a highly variable course and prognosis. It results in functional abnormalities in the immune system due to intrinsic factors and the use of immunosuppressive therapies associated with underlying comorbidities seem to increase the risk of severe COVID-19 and poor outcomes of the disease in pediatric systemic lupus erythematosus (SLE) patients. The aim of this review is to obtain a better understanding of the existing link between this new viral infection and pediatric lupus.

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Diamond-Blackfan anemia is a rare (6-7 million live births), inherited condition manifesting as severe anemia due to the impaired bone marrow production of red blood cells. We present the unusual case of a six month old infant with a de novo mutation of the gene causing Diamond-Blackfan anemia who additionally suffers from severe sinus bradycardia. The infant was diagnosed with this condition at the age of four months; at the age of 6 months, she presents with severe anemia causing hypoxia which, in turn, caused severe dyspnea and polypnea, which had mixed causes (hypoxic and infectious) as the child was febrile.

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The management of children with complex and life-threatening heart malformations became a clinical conundrum during the SARS-CoV-2 pandemic. The pathophysiological features of the new coronavirus infection have raised major dilemmas regarding the postoperative evolution of an infected patient, and the epidemiological limitations have tightened the criteria for selecting cases. We present the case of a newborn diagnosed with total anomalous pulmonary venous return (TAPVR) who underwent surgical repair of the defect with favorable outcome, despite a prior diagnosis of SARS-CoV-2 infection.

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Advances in cystic fibrosis (CF) care have significantly improved the quality of life and life expectancy of patients. Nutritional therapy based on a high-calorie, high-fat diet, antibiotics, as well as new therapies focused on CFTR modulators change the natural course of the disease. They do so by improving pulmonary function and growing BMI.

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Ventricular assist devices (VAD) have gained popularity in the pediatric population during recent years, as more and more children require a heart transplant due to improved palliation methods, allowing congenital heart defect patients and children with cardiomyopathies to live longer. Eventually, these children may require heart transplantation, and ventricular assist devices provide a bridge to transplantation in these cases. The FDA has so far approved two types of device: pulsatile and continuous flow (non-pulsatile), which can be axial and centrifugal.

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Neurofibromatosis type 1 (NF1) is a genetic disease, with autosomal dominant transmission, related to pathogenic variant of the tumor suppressor gene (17q11.2), predisposing affected subjects to a variety of benign (neurofibromas and plexiform neurofibromas) and malignant tumors. The lack of the NF1-neurofibromin gene product can cause uncontrolled cell proliferation in the central or peripheral nervous system and multisystemic involvement, and so the disease includes a heterogeneous group of clinical manifestations.

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