Search

Diabetes is a complex condition with a rising global incidence, and its impact is equally evident in pediatric practice. Regardless of whether we are dealing with type 1 or type 2 diabetes, the development of complications following the onset of the disease is inevitable. Consequently, contemporary medicine must concentrate on understanding the pathophysiological mechanisms driving systemic decline and on finding ways to address them. We are particularly interested in the effects of oxidative stress on target cells and organs, such as pancreatic islets, the retina, kidneys, and the neurological or cardiovascular systems. Our goal is to explore, using the latest data from international scientific databases, the relationship between oxidative stress and the development or persistence of systemic damage associated with diabetes in children. Additionally, we highlight the beneficial roles of antioxidants such as vitamins, minerals, polyphenols, and other bioactive molecules; in mitigating the pathogenic cascade, detailing how they intervene and their bioactive properties. As a result, our study provides a comprehensive exploration of the key aspects of the oxidative stress-antioxidants-pediatric diabetes triad, expanding understanding of their significance in various systemic diseases. [ABSTRACT FROM AUTHOR]

Background: Vitamin D plays an important role in maintaining bone health with numerous benefits for extraskeletal health as well. Objectives: We aimed to assess the prevalence of vitamin D deficiency in children (0–18 years old) in a tertiary hospital in Romania between August 2019 and January 2024 and to investigate the role of adequate supplementation in this vulnerable population. Methods: The serum 25(OH)D levels were measured using a chemiluminescence binding assay. Results: A total of 744 participants were included in this study: 396 female (53.23%) and 348 male (46.77%). The serum levels of 25(OH)D ranged between 2.2 and 125.4 ng/mL, with a mean value of 27.4 ng/mL and a median value of 23.5 ng/mL. According to the cutoff values for the definition of vitamin D status (severe deficiency: <10 ng/mL, deficiency: <20 ng/mL, insufficiency: 20–29 ng/mL, and sufficiency: ≥30 ng/mL), the sample consisted of 77 (10.34%) cases of severe deficiency, 221 (29.7%) cases of deficiency, 194 (26.07%) cases of insufficiency, and 245 (32.93%) cases of sufficiency. There were seven cases of hypervitaminosis D with values above 100 ng/mL. The mean values (and corresponding 95% confidence intervals, CIs) were as follows: 27.85 ng/mL [25.95–29.76] in the males, 22.45 ng/mL [25.12–28.82] in the females, 24.82 ng/mL [21.86–27.77] in the spring, 28.62 ng/mL [26.42–30.81] in the summer, 32.30 ng/mL [29.16–35.44] in the autumn, and 24.01 ng/mL [21.57–26.44] in the winter. We observed a notable decline in the serum 25(OH)D levels with age, with 82.08% of the children in the age group above 6 years old having serum 25(OH)D levels below 30 ng/mL. In obese subjects, a higher prevalence of hypovitaminosis D was observed compared to non-obese subjects, with a mean value of 19.54 [17.50–21.57] ng/mL in obese children versus 28.89 [27.39–30.40] ng/mL in normal weight children. Conclusions: In our sample, the mean serum concentration of 25(OH)D was 27.4 ng/mL. Notably, 66.11% of the cases demonstrated varying degrees of hypovitaminosis D, with a significantly higher prevalence of 86.16% observed in the obese group. Healthcare providers should prioritize routine screening for vitamin D levels in pediatric patients with obesity to facilitate timely intervention and personalized supplementation strategies tailored to individual needs [ABSTRACT FROM AUTHOR]

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. The aim of this study is to identify the genetic variants associated with a group of patients who presented clinical signs suggestive of a syndromic form of HTAD. Genetic testing based on next-generation sequencing (NGS) technology was performed using a gene panel (Illumina TruSight Cardio Sequencing Panel) or whole exome sequencing (WES). In the majority of cases (8/10), de novo mutations in the FBN1 gene were detected and correlated with the Marfan syndrome phenotype. In another case, a known mutation in the TGFBR2 gene associated with Loeys–Dietz syndrome was detected. Two other pathogenic heterozygous variants (one de novo and the other a known mutation) in the SLC2A10 gene (compound heterozygous genotype) were identified in a patient diagnosed with arterial tortuosity syndrome (ATORS). We presented the genotype–phenotype correlations, especially related to the clinical evolution, highlighting the particularities of each patient in a family context. We also emphasized the importance of genetic testing and patient monitoring to avoid acute aortic events. [ABSTRACT FROM AUTHOR]

Celiac disease (CeD) is an enteropathy caused by the complex interaction between genetic, environmental, and individual immunological factors. Besides the hallmark of intestinal mucosal damage, CeD is a systemic disorder extending beyond the gastrointestinal tract and impacting various other organs, causing extraintestinal and atypical symptoms. The association between CeD and liver damage has been classified into three main categories: mild and asymptomatic liver injury, autoimmune liver injury, and liver failure. We present a case of severe liver damage with cirrhotic evolution in an obese 12-year-old boy who had been admitted due to generalized jaundice and localized abdominal pain in the right hypochondrium. In the course of investigating the etiology of severe liver disease, toxic, infectious, metabolic, obstructive, and genetic causes were excluded. Despite the patient's obesity, a diagnosis of CeD was established, and in accordance with autoimmune hepatitis (AIH) criteria, the patient was diagnosed with autoantibody-negative AIH associated to CeD. [ABSTRACT FROM AUTHOR]

Background: Liver cirrhosis presents significant challenges in the pediatric population due to a complex interplay of etiological factors, clinical manifestations, and limited therapeutic options. The leading contributors to cirrhosis among pediatric patients are chronic cholestasis, metabolic disorders present from birth, and long-term hepatitis. Materials and method: Our narrative review aimed to synthesize literature data on the etiology, clinical picture, diagnostic techniques, optimal management of complications, and timely transplantation. Results: The epidemiology of liver cirrhosis in pediatric patients is evolving. The introduction of a universal vaccination and effective long-term viral suppression in viral hepatitis have significantly decreased complications rates. Liver transplantation programs worldwide have also improved the management of cirrhosis complications. Conclusions: Early diagnosis, comprehensive management strategies, and advancements in treatment modalities are critical for improving outcomes. Understanding these differences is crucial in providing age-appropriate care and support for those affected by cirrhosis. [ABSTRACT FROM AUTHOR]

The prevalence of obesity among children is rising and over the years we can estimate the severity of medical issues at adult age. According to the latest studies and also personal experience we are already seeing the first signs of diabetes, high blood pressure and non-alcoholic fatty liver disease (NAFLD) in children and adolescents. The excess of sugar and refined carbohydrates associated with a sedentary lifestyle has multiple negative effects for organism and high risk of comorbidities, especially for dental health of children. We also notice problems in the dental field and here we refer to dental caries and dental demineralization. Aim of the study: In this observational study we set out to find out the possible correlation between obesity in children and dental problems by evaluating the body mass index, percentile, and a self-assessment method for dental problems using the ADA’s Caries Risk Assessment. Materials and Methods: In this study 51 children with ages between 7 and 17 years old were evaluated in the nutrition office. The degree of obesity was established using the body mass index and percentile. Each participant then had to fill out and ADA’s Caries Risk Assessment form for patients over 6 years of age. Results: Out of the 42 children with obesity or overweight that completed ADA’s Caries Risk Assessment form, 50% associate dental problems, more precisely carious lesions, according to the answers received using the ADA form, the high prevalence is correlated with sugar consumption. Conclusions: The analysis of the study lot highlighted a significant correlation between weight and oral health, which means that a poor diet, rich in refined sugars, may lead to obesity and also dental lesions. Improving collaboration between general and oral health professionals is essential to improve health and also to prevent the development of more serious comorbidities. [ABSTRACT FROM AUTHOR]

The aim of this study was to evaluate the the measurements of the circle of Willis (CW) arteries diameters in a Romanian population. Material and methods: We performed a retrospective study on a sample of 221 adult patients (≥18 years-old), hospitalized in the Emergency Clinical Hospital "Prof. Dr. N. Oblu" from Iași, Romania, over a period of 12 years, who died during hospitalization and on whom an autopsy was performed. Demographic data (age, gender, residence), causes of death and the outer diameters of CW constituent arteries were collected. There were 221 subjects, who were divided into four groups, according to the association of patient's cause of death with the presence of anatomical variants of CW. 76.01% of all subjects presented cerebrovascular disease (CVDs) and anatomical variant of the CW, thus representing the great majority. Patients "with CVDs and anatomical variants of CW" were older with about 4 years compared to the other three categories of patients, having an average age of 64.17 ±14.22 years. 56.3% of those "without CVDs and with anatomical variant of CW" and 62.5% of those patients deceased ”with CVDs and anatomical variants of CW” had rural residences. 68.8% of all cases ”without CVDs, but with anatomical variants of CW” were female patients. 37.5% of the patients "with CVDs and anatomical variants of CW" and 43.8% of the patients "without CVDs, but with anatomical variants of CW" lived in the urban environment. Statistically significant differences were observed between the mean outer diameters of the arteries of CW and the patient's cause of death (p <.001) in case of anterior communicating artery (AcoA), right anterior cerebral artery (ACA), right and left posterior communicating arteries (PcoAs), and right posterior cerebral artery (PCA). The smallest external diameters of ACoA, right ACA and left PcoA were identified in patients ”with CVDs and anatomical variants of CW”. Our research has provided evidence that a smaller diameter of the right ACA and left PcoA are associated with the occurrence of cerebrovascular diseases. [ABSTRACT FROM AUTHOR]

Medical clinical practice worldwide requires human interaction between the doctor and the patient, which can prove to be difficult because of many types of communication barriers, including cultural ones. In this context, it is becoming increasingly clear that doctors should be aware of their patient's cultural traits, that might influence their attitudes towards healthcare and the decision making process. This can prove to be difficult, especially in multicultural societies. This paper aims to highlight Romanian medical students' opinion on the importance of being aware of the cultural context the patient comes from in order to offer culturally competent healthcare. We conducted a focus group moderated by a group assistant, which included 10 fifth year medical students. Data was interpreted using a phenomenological interpretative approach. Romanian medical students are aware of some particular traits of social minorities in Romania regarding healthcare. They acknowledge the importance of cultural competence in medicine and can imagine several ways to protect human dignity at the end of life. [ABSTRACT FROM AUTHOR]

Congenital hyperinsulinism (CHI) is a rare disorder of glucose metabolism and is the most common cause of severe and persistent hypoglycemia (hyperinsulinemic hypoglycemia, HH) in the neonatal period and childhood. Most cases are caused by mutations in the ABCC8 and KCNJ11 genes that encode the ATP-sensitive potassium channel (KATP). We present the correlation between genetic heterogeneity and the variable phenotype in patients with early-onset HH caused by ABCC8 gene mutations. In the first patient, who presented persistent severe hypoglycemia since the first day of life, molecular genetic testing revealed the presence of a homozygous mutation in the ABCC8 gene [deletion in the ABCC8 gene c.(2390+1_2391-1)_(3329+1_3330-1)del] that correlated with a diffuse form of hyperinsulinism (the parents being healthy heterozygous carriers). In the second patient, the onset was on the third day of life with severe hypoglycemia, and genetic testing identified a heterozygous mutation in the ABCC8 gene c.1792C>T (p.Arg598*) inherited on the paternal line, which led to the diagnosis of the focal form of hyperinsulinism. To locate the focal lesions, (18)F-DOPA (3,4-dihydroxy-6-[18F]fluoro-L-phenylalanine) positron emission tomography/computed tomography (PET/CT) was recommended (an investigation that cannot be carried out in the country), but the parents refused to carry out the investigation abroad. In this case, early surgical treatment could have been curative. In addition, the second child also presented secondary adrenal insufficiency requiring replacement therapy. At the same time, she developed early recurrent seizures that required antiepileptic treatment. We emphasize the importance of molecular genetic testing for diagnosis, management and genetic counseling in patients with HH. [ABSTRACT FROM AUTHOR]

This article from the Romanian Journal of Oral Rehabilitation focuses on the oral manifestations of anorexia in adolescent patients. It highlights the specific challenges faced by this population in terms of oral health and emphasizes the importance of early intervention and tailored dental care strategies. The article discusses various oral health complications that can arise from anorexia, such as enamel acid solubility and periodontitis, and emphasizes the need for regular dental check-ups and proper nutrition. It also mentions the impact of the COVID-19 pandemic on eating disorders among teenagers and the importance of primary care providers in evaluating and treating these disorders. [Extracted from the article]

This paper delineates several aspects of cystic fibrosis-related diabetes (CFRD)—a common complication of cystic fibrosis (CF). CFRD exhibits a predilection for older individuals with CF, yet it also extends its influence on children and adolescents. Scientific insights postulate a potential link between CFRD and the aberrant mucus production within the pancreas, thereby culminating in pancreatic insufficiency. This, in turn, perturbs the synthesis of insulin, a pivotal endocrine hormone responsible for the regulation of glycemic levels. Standardized protocols advocate for the systematic screening of CFRD among all individuals with CF, commencing at the age of 10 years using the oral glucose tolerance test (OGTT). Therapeutic modalities encompass insulin therapy, dietary adjustments, and the vigilant monitoring of glycemic parameters. The overarching objective is to maintain blood glucose levels within a targeted range to mitigate the advent of diabetic complications. Untreated or sub-optimally managed CFRD can precipitate a spectrum of deleterious health ramifications, encompassing cardiovascular afflictions, neuropathy, renal dysfunction, and ocular complications. [ABSTRACT FROM AUTHOR]

This article examines the connection between the oral and gut microbiota in pediatric inflammatory bowel disease (IBD). The study reveals that children with IBD have distinct changes in their oral microbiome, which could potentially be used as diagnostic markers. The research also looks at how the oral microbiota changes before and after IBD treatment. The findings emphasize the importance of oral health in managing pediatric IBD and highlight the need for collaboration between dental and medical professionals. [Extracted from the article]

The human intestinal microbiota is a highly intricate structure with a crucial role in promoting health and preventing disease. It consists of diverse microbial communities that inhabit the gut and contribute to essential functions such as food digestion, nutrient synthesis, and immune system development. The composition and function of the gut microbiota are influenced by a variety of factors, including diet, host genetics, and environmental features. In pediatric patients, the gut microbiota is particularly dynamic and vulnerable to disruption from endogenous and exogenous factors. Recent research has focused on understanding the interaction between the gut and kidneys. In individuals with chronic kidney disease, there is often a significant disturbance in the gut microbiota. This imbalance can be attributed to factors like increased levels of harmful toxins from the gut entering the bloodstream, inflammation, and oxidative stress. This review looks at what is known about the link between a child's gut–kidney axis, how dysbiosis, or an imbalance in the microbiome, affects chronic kidney disease, and what treatments, both pharmaceutical and non-pharmaceutical, are available for this condition. [ABSTRACT FROM AUTHOR]

Atherogenic dyslipidemia plays a critical role in the development of metabolic syndrome (MetS), being one of its major components, along with central obesity, insulin resistance, and hypertension. In recent years, the development of molecular genetics techniques and extended analysis at the genome or exome level has led to important progress in the identification of genetic factors (heritability) involved in lipid metabolism disorders associated with MetS. In this review, we have proposed to present the current knowledge related to the genetic etiology of atherogenic dyslipidemia, but also possible challenges for future studies. Data from the literature provided by candidate gene-based association studies or extended studies, such as genome-wide association studies (GWAS) and whole exome sequencing (WES,) have revealed that atherogenic dyslipidemia presents a marked genetic heterogeneity (monogenic or complex, multifactorial). Despite sustained efforts, many of the genetic factors still remain unidentified (missing heritability). In the future, the identification of new genes and the molecular mechanisms by which they intervene in lipid disorders will allow the development of innovative therapies that act on specific targets. In addition, the use of polygenic risk scores (PRS) or specific biomarkers to identify individuals at increased risk of atherogenic dyslipidemia and/or other components of MetS will allow effective preventive measures and personalized therapy. [ABSTRACT FROM AUTHOR]

Alarming statistics show that the number of people affected by excessive weight has surpassed 2 billion, representing approximately 30% of the world's population. The aim of this review is to provide a comprehensive overview of one of the most serious public health problems, considering that obesity requires an integrative approach that takes into account its complex etiology, including genetic, environmental, and lifestyle factors. Only an understanding of the connections between the many contributors to obesity and the synergy between treatment interventions can ensure satisfactory outcomes in reducing obesity. Mechanisms such as oxidative stress, chronic inflammation, and dysbiosis play a crucial role in the pathogenesis of obesity and its associated complications. Compounding factors such as the deleterious effects of stress, the novel challenge posed by the obesogenic digital (food) environment, and the stigma associated with obesity should not be overlooked. Preclinical research in animal models has been instrumental in elucidating these mechanisms, and translation into clinical practice has provided promising therapeutic options, including epigenetic approaches, pharmacotherapy, and bariatric surgery. However, more studies are necessary to discover new compounds that target key metabolic pathways, innovative ways to deliver the drugs, the optimal combinations of lifestyle interventions with allopathic treatments, and, last but not least, emerging biological markers for effective monitoring. With each passing day, the obesity crisis tightens its grip, threatening not only individual lives but also burdening healthcare systems and societies at large. It is high time we took action as we confront the urgent imperative to address this escalating global health challenge head-on. [ABSTRACT FROM AUTHOR]