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Physiological calcification occurs in bones and epiphyseal cartilage as they grow, whereas ectopic calcification occurs in blood vessels, cartilage, and soft tissues. Although it was formerly thought to be a passive and degenerative process associated with aging, ectopic calcification has been identified as an active cell-mediated process resembling osteogenesis, and an increasing number of studies have provided evidence for this paradigm shift. A significant association between vascular calcification and cardiovascular risk has been demonstrated by various studies, which have shown that arterial calcification has predictive value for future coronary events. With respect to cartilaginous calcification, calcium phosphate or hydroxyapatite crystals can form asymptomatic deposits in joints or periarticular tissues, contributing to the pathophysiology of osteoarthritis, rheumatoid arthritis, ankylosing spondylitis, tendinitis, and bursitis. The risk factors and sequence of events that initiate ectopic calcification, as well as the mechanisms that prevent the development of this pathology, are still topics of debate. Consequently, in this review, we focus on the nexus of the mechanisms underlying vascular and cartilaginous calcifications, trying to circumscribe the similarities and disparities between them to provide more clarity in this regard.
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6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) is a rare neurometabolic disease that can be diagnosed in newborn screening (NBS) and is part of the family of tetrahydrobiopterin deficiency disorders (BH4Ds). It is essential to diagnose and treat this disease early to prevent permanent neurological damage secondary to this neurotransmitter disorder. We present the first two cases of PTPSD in Romania that were genetically confirmed and treated late. Improving the diagnosis and monitoring procedures in Romania with correct metabolic management will prevent severe neurological impairment from PTPSD or other BH4Ds.
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Upper gastrointestinal bleeding (UGB) in children is a potentially life-threatening condition that represents a challenge for pediatricians and pediatric surgeons. It is defined as bleeding from any location within the upper esophagus to the ligament of Treitz. UGB can have many causes that vary with age. The impact on the child is often proportional to the amount of blood lost. This can range from mild bleeding that is unlikely to cause hemodynamic instability, to massive bleeding that requires admission to the intensive care unit. Proper and prompt management are very important factors in reducing morbidity and mortality. This article aims to summarize current research regarding the diagnosis and treatment of UGB. Most of the data used in the literature published on this subject is extrapolated from adulthood.
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Atopic dermatitis (AD) is mainly considered an allergy, exacerbated by allergic factors. Is there evidence to suggest the existence of autoimmune components in the pathophysiology of the illness? Studies in the literature that dealt with the occurrence of autoimmunity in children with AD were analyzed. We followed the studies published in PubMed for 10 years, from 2001 to 2021. Clinical signs and symptoms were similar to other autoimmune diseases, having periods of remission and relapses. Other correlations between AD and autoimmune diseases have been described, and patients with AD can also present with a wide range of autoimmune comorbidities. Three major factors contribute to the pathogenesis of AD: damage of the skin barrier, disorders of the immune response, and imbalances of the skin microbiome-all based on genetic changes and influenced by environmental factors. Predominant activation of Th 2 cells, with the increase of Th 1, Th 17, and Th 22 subsets, promotes skin inflammation. All this evidence suggests that AD might be classified as an autoimmune disease, not just as an allergic reaction.
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Doenças Autoimunes , Dermatite Atópica , Hipersensibilidade , Criança , Humanos , Doenças Autoimunes/epidemiologia , Hipersensibilidade/patologia , Pele/patologia , Células Th2RESUMO
BACKGROUND: Itching is one of the major and mandatory signs of atopic dermatitis (AD) in children. Interleukin 31 (IL-31) is strongly involved in the genesis of pruritus. In our study, 68 patients aged 0-18 years with proven AD were followed clinically. The role of IL-31 in pruritus as clinical manifestation of AD is known but its etiopathogenetic mechanism is not well known. METHODS: Serum was collected from 31 patients with moderate and severe forms of AD to determine IL-31 and its correlation with activity and severity of the disease. We also studied 30 healthy patients to compare the results of determinations. The IL-31 value was determined using the sandwich enzyme-linked-immunosorbent serologic assay (two antibodies assay). The IL-31 values were expressed as picograms per milliliter (pg/mL) and compared with activity and severity of the disease. RESULTS: The IL-31 value was much higher in patients with AD compared to the control group. The mean value of findings was 1600 pg/mL compared to the control group with an average of 220 pg/mL. The IL-31 values were positively correlated with the severity and activity of the disease. CONCLUSIONS: The results of our pediatric study established the involvement of IL-31 in the pathophysiology of AD. IL-31 could be a marker of AD track.
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Dermatite Atópica , Eczema , Criança , Dermatite Atópica/diagnóstico , Dermatite Atópica/epidemiologia , Humanos , Interleucinas , Prurido , Índice de Gravidade de DoençaRESUMO
Food allergy (FA) is a condition with a growing incidence and is a constant concern for the medical world and healthcare providers. With potential symptoms including anaphylaxis, in the event of an allergic reaction the patient's life may well be endangered. The diagnosis of FA is a continuous challenge because mild cases tend to be ignored or diagnosed late and young children with allergies are cared for by parents, who are not always able to accurately interpret symptoms. It is very important to be able to differentiate FAs from food intolerance and toxic reactions to food. An accurate diagnosis is required to provide personalized management of an FA. More sophisticated and accurate diagnostic tests, including component diagnosis and epitope reactivity, allow the provision of a directed diagnosis, a more accurate therapeutic approach, and a useful prognostic evaluation. Tests used in current practice include the specific search for serum IgE, elimination diets, oral food challenges, single, blind, and double-blind (DBPCFC) tests, as well as skin tests. The risk of anaphylaxis can be assessed by molecular diagnostics/component-resolved diagnosis (CRD) and by conducting a basophilic activation test (BAT). These tests allow a planned, personalized treatment based on molecular and clinical profiles. CRD can determine the individual profile of allergic molecular reactivity and enable the formulation of a prognostic judgment. Our article highlights the importance of knowing the immune mechanisms, diagnostics, and immunotherapies in FAs. Starting from observing exposure to food allergens, to identifying allergic reactions, analysing the severity of clinical manifestations, noting the possibilities of diagnosis, and illustrating adequate management strategies.
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BACKGROUND: Patients with Kawasaki disease (KD) may develop cardiovascular complications in the presence of predictive factors, including young age < 6 months, male gender, unfavorable response to intravenous immunoglobulin (IVIG), low albuminemia, thrombocytosis, fever over 8 days, increased C-reactive protein (CRP), elevated levels of 25 OH vitamin D3, elevated levels of fibroblast growth factor 23 (FGF23), elevated D-dimers, elevated ferritin. The objectives of this study were to determine the laboratory negative predictive factors for the occurrence of cardiac complications in children with KD. Studies in the literature that dealt with these predictive factors were analyzed. METHODS: We followed the studies published in PubMed over a 10-year period. Seventy articles were reviewed and, after applying the inclusion and exclusion criteria, 20 articles were selected. RESULTS: We evaluated the population studies which showed factors can predict the occurrence of heart complications. These factors were different depending on age and depending on resistance to IVIG treatment. CONCLUSIONS: Some biological parameters such as low albumin, thrombocytosis, increased CRP, elevated levels of 25 OH vitamin D3, elevated levels of FGF23, elevated D-dimers, and elevated ferritin could be considered as laboratory negative predictive factors for CAL.
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Síndrome de Linfonodos Mucocutâneos , Calcifediol , Criança , Febre , Fator de Crescimento de Fibroblastos 23 , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Lactente , Laboratórios , Masculino , Síndrome de Linfonodos Mucocutâneos/complicações , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológicoRESUMO
Background: The depressive syndrome is commonly found in children suffering from chronic diseases, which is also present in patients with juvenile idiopathic arthritis (JIA). Objective: This study proposed to analyze depression's incidence in children with JIA. We also monitored the evolution of depression with the improvement of the disease under treatment. Material and methods: We followed 145 patients suffering from JIA according to ILAR and Edmonton classification in 2001. The study was conducted over three years between 2015 and 2017. The assessment of depression was made using the Hamilton scale adapted for children by us. This scale consists of 11 fields with multiple questions, the evaluation was made by counting the score. The scale assesses overall depression intensity. It has a maximum score of 28 points, and one with eight points defines depression. Results: The results obtained using the Hamilton scale showed that, from the total of 145 patients suffering from JIA, 35 (24%) experienced mild depression, 10 (7%) moderate depression and 26 were borderline; 74 children did not experience the depressive syndrome. In the control group, depression was found in only 5% of subjects. After administering the most appropriate treatment, symptoms of depression have been improved and the depression score has decreased. Conclusion: The Hamilton questionnaire adapted for children is easy to apply and it is an important tool for assessing depression. Depression has been present in one-third of patients with JIA selected for this study. The symptoms of depression have been correlated with disease activity. Depression does not influence the disease, but the disease induces depression.
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Guillain-Barré Syndrome (GBS) is currently the most frequent cause of acute flaccid paralysis on a global scale, being an autoimmune disorder wherein demyelination of the peripheral nerves occurs. Its main clinical features are a symmetrical ascending muscle weakness with reduced osteotendinous reflexes and variable sensory involvement. GBS most commonly occurs after an infection, especially viral (including COVID-19), but may also transpire after immunization with certain vaccines or in the development of specific malignancies. Immunoglobulins, plasmapheresis, and glucocorticoids represent the principal treatment modalities, however patients with severe disease progression may require supportive therapy in an intensive care unit. Due to its symptomology, which overlaps with numerous neurological and infectious illnesses, the diagnosis of GBS may often be misattributed to pathologies that are essentially different from this syndrome. Moreover, many of these require specific treatment methods distinct to those recommended for GBS, in lack of which the prognosis of the patient is drastically affected. Such diseases include exposure to toxins either environmental or foodborne, central nervous system infections, metabolic or serum ion alterations, demyelinating pathologies, or even conditions amenable to neurosurgical intervention. This extensive narrative review aims to systematically and comprehensively tackle the most notable and challenging differential diagnoses of GBS, emphasizing on the clinical discrepancies between the diseases, the appropriate paraclinical investigations, and suitable management indications.
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COVID-19 , Síndrome de Guillain-Barré , Diagnóstico Diferencial , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/etiologia , Síndrome de Guillain-Barré/terapia , Humanos , Debilidade Muscular , SARS-CoV-2RESUMO
Guillain-Barré syndrome (GBS) or acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is a rare autoimmune disorder in which the body's immune system mistakenly attacks the nerves. In this report, we present a case of a 15-month-old girl who presented with an inability to walk and support the vertical and sitting positions, pain in the lower limbs accompanied by grimaces, muscular weakness, and agitation due to gait disturbances. This is a unique case in that GBS affected a previously healthy girl and was associated with pneumonia and anemia as the disease progressed, causing an intriguing diagnosis. Also, another remarkable aspect of our case is that complete recovery was achieved following intravenous immunoglobulin (IVIG) and anti-inflammatory treatment; our patient was able to walk again after receiving the first dose of IVIG.
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Juvenile idiopathic arthritis (JIA) represents a significant challenge for pediatricians who intend to diagnose and treat this pathology. The classification criteria for JIA subtypes are rigid and often do not fully satisfy the possibilities of classification in the subtype. The objective of this study was to identify clearer criteria for classifying JIA subtypes. The 2019 expert committee meeting (PRINTO) shows the difficulties of this classification and proposes new research directions for the identification of disease subtypes. Four different chronic disorders are used to define JIA in a concise and easy to follow classification system. However, dates from the literature suggest that at least 10% of cases are still difficult to classify. Possibly in the future, different classifications of JIA based on pathophysiological and genetic criteria would be necessary.
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In this report, we present the case of a one-year-old female patient with a history of febrile seizures, which was characterized by multiple seizures during hot baths and more than one episode of status epilepticus. Dravet syndrome was suspected due to the clinical context of the seizures and was confirmed by genetic testing. The brain MRI was found to be normal. Throughout the course of disease progression, the patient showed no signs of neurological degradation. The patient was found to have a mutation in the SCN1A gene with a peculiar course, which had not been reported previously. The normal psychomotor development, as seen in this case, highlights the different possibilities related to disease progression in Dravet syndrome.
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Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) syndrome is a rare disease with unknown and debated etiology, characterized by precipitous obesity in young children, hypoventilation and autonomic dysregulation with various endocrine abnormalities. Neuroendocrine tumors can be associated in more than half of the cases. This rare condition has a severe outcome because of high morbidity and mortality. We provide a comprehensive description of the etiopathogenetic theories of the disease, clinical presentation, diagnostic workup and treatment possibilities.
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It is well known and proven that heavy metal contamination of the soils can severely affect the health of the people living in the contaminated areas given the ease with which trace elements can enter the human body. In addition-to agricultural crop depreciation as well as soil erosion, soil pollution can negatively affect the natural function of ecosystems. While certain heavy metals in high doses can be harmful to the body, others such as cadmium, mercury, lead, chromium, silver and arsenic in minimal amounts have delusional effects on the body, causing acute and chronic intoxication. Our research is focused on the identification of heavy metals from the soil (O, Al, Ca, Cu, Fe, K, Mg, Na, P, Pb, Si, Ti, Zn) in 3 areas in Transylvania where factories were in operation, using 4 methods: UV-VIS spectrometry, AAS, SEM-EDAX and X-ray diffractions. High levels of very toxic trace elements such as lead, aluminum, cadmium were found near the studied areas, especially using SEM-EDAX and AAS methods. Knowledge on the soil concentration of TEs, the time exposure and the side effects can lead us to predict the health status of the exposed population. In our study, by determinating the concentration of TEs we set out to formulate a prediction on the health status of the exposed population using literature data.
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Exposição Ambiental/análise , Nível de Saúde , Metais Pesados/análise , Poluentes do Solo/análise , Ecossistema , Exposição Ambiental/efeitos adversos , Monitoramento Ambiental/métodos , Humanos , Metais Pesados/toxicidade , Romênia , Solo/química , Poluentes do Solo/toxicidade , Oligoelementos/análise , Oligoelementos/toxicidadeRESUMO
Atopic dermatitis (AD) is a complex, chronic skin disorder with a broad spectrum of clinical aspects, characterized by abnormal skin barrier function. This has a significant impact on patients' quality of life (QoL), which represents a crucial parameter for their wellbeing. This study assessed the QoL of patients with AD by following parameters such as itching, disturbance of sleep, disturbance of play activity, and community activities. The study included 64 patients clinically diagnosed with AD, aged 0 to 16 years. QoL of patients with AD was measured by evaluating the QoL indices for infants and young children (IDQoL-Infants' Dermatitis Quality of Life Index) and the QoL for children over 4 years (CDQoL-Children's Dermatology Life Quality Index). The severity of the disease was also monitored by evaluating the SCORAD index. The major symptom for atopic dermatitis, pruritus, was found most frequently in our study and influenced patients' QoL. The study showed that the above questionnaires are efficient tools for correlating AD severity with QoL even in younger patients and could be included in current guidelines. This is the first study that analyzed the QoL of pediatric patients with atopic dermatitis in Romania and can constitute the basis for elaborating a more comprehensive disease management guidelines.
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Diagnosis of Kawasaki disease (KD) is based on well-established clinical criteria. In incomplete or atypical KD, the diagnosis is challenging, because of the paucity of clinical signs or because of the presence of clinical manifestations that generally are not seen in KD. We describe the case of a 3-year-old female patient with persistent high fever, vomiting, watery diarrhea, metabolic acidosis and severe hypopotassemia. On the fourth day of fever, bilateral conjunctivitis, mucous and extremity changes were registered. Urine changes as glycosuria and proteinuria were also noticed. Echocardiography revealed ectasia of the left anterior descending coronary artery, and diagnosis of KD was established. The treatment consisted of intravenous immunoglobulin (IVIG) and oral aspirin. Recurrence of disease was recorded on the 23rd day of the disease, with favorable evolution after the second dose of IVIG was infused.
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The following was emphasised in an informative, educational issued on the American College of Rheumatology website in April 2017: "About one child in every 1000 develops some type of chronic arthritis. These disorders can affect children at any age, although rarely in the first six months of life. It is estimated that around 300,000 children in the United States have been diagnosed with the condition". Therefore, knowledge of immunological investigations in patients with juvenile idiopathic arthritis is important for finding new treatment pathways. Our aim was to assess the immunological investigations and immune system implications in juvenile idiopathic arthritis. We will discuss: a) the specifically targeted proteins - the citrullinated peptide antibodies; b) non-specifically targeted proteins - heat-shock proteins (anti-HSP60, -65, and -70 antibodies), CLEC16A, inflammasomes, and phagocyte-derived S100; c) interleukins - IL-1, IL-6, IL-10, IL-17, and IL-18; d) innate immunity - macrophage activation syndrome, natural killer cells, complement activity, and immune complexes; and e) therapeutic targets - monoclonal antibodies, JAK inhibitors, and intravenous immune globulin.
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Antinuclear antibodies (ANAs) are autoantibodies that attack self-proteins within cell nucleus structures; their presence in serum may indicate an autoimmune disease. Also, positive ANA test results have been obtained in chronic infectious diseases, cancers, medication-related adverse events, and even healthy individuals. As a result, a correct interpretation of the presence of ANAs is needed.Identification of ANAs subtypes is an important part of clinical immunology. The presence of ANAs in patient blood specimens is detected using a cell-line substrate from human laryngeal carcinoma (HEp-2 cells). On this substrate, ANAs will bind specific antigens, which will lead to a suggestive fluorescent emission. The fluorescence patterns visualized under the fluorescence microscope can be correlated with certain subtypes of ANA and certain autoimmune diseases.Depending on the subtype of ANA present in the serum and the targeted antigen, several staining patterns are reported, namely, nuclear patterns, nucleolar patterns, cell cycle patterns, or cytoplasmatic patterns. Identification of a certain pattern can lead to diagnosis of a certain autoimmune disease.