Practical Aspects of Upper Gastrointestinal Bleeding in Children.

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.

A new autoimmune disease: atopic dermatitis in children.

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.

Multisystemic Inflammatory Syndrome in Children, A Disease with Too Many Faces: A Single-Center Experience.

BACKGROUND AND AIM: Multisystemic inflammatory syndrome in children (MIS-C) is a rare and severe condition associated with Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV-2) infection in children with onset approximately 4-6 weeks after infection. To date, the precise mechanism that causes MIS-C is not known and there are many questions related to the etiology, risk factors, and evolution of this syndrome. We aimed to describe the clinical manifestations, treatment methods, and disease evolution and analyze the main risk factors for MIS-C in children hospitalized in our clinic. MATERIAL AND METHODS: We performed a retrospective study including children with MIS-C followed-up in the 2nd Pediatric Clinic of the Emergency Clinical Hospital for Children Cluj-Napoca, Romania, for 13 months (November 2020-December 2021). RESULTS: We included in our cohort 34 children (mean age 6.8 ± 4.6 years) who met MIS-C criteria: high and prolonged fever associated with organ dysfunction (heart, lungs, kidneys, brain, skin, eyes, bone marrow or gastrointestinal organs), and autoantibodies and/or polymerase chain reaction positives for SARS-CoV-2. Nineteen patients (55.88%) had a severe form of the disease, with multiorgan failure and shock, and myocardial or respiratory failure. The number of organs affected in the severe forms was significantly higher (more than 6 in 73.70%) than in mild forms (2-3 in 60%). Cardiac dysfunction, hypoalbuminemia, hypertriglyceridemia and hyponatremia were more important in severe forms of MIS-C. These patients required respiratory support, resuscitation with fluid boluses, vasoactive drugs, or aggressive therapy. All patients with mild forms had fully recovered compared to 63.16% in severe forms. The others with severe forms developed long-term complications (dilation of the coronary arteries, premature ventricular contraction, or myocardial fibrosis). Two patients had an extremely severe evolution. One is still waiting for a heart transplant, and the other died (hemophagocytic lymphohistiocytosis syndrome with multiorgan failure). CONCLUSIONS: From mild to severe forms with multiorgan failure, shock, and many other complications, MIS-C represents a difficult challenge for pediatricians, who must be aware of the correct diagnosis and unpredictable, possibly severe evolution.

Immune Responses to Some Viral Infections That Have a High Evolutionary Potential-A Case Report with Literature Review.

Viral infections are a key issue in modern medicine. SARS-CoV-2 infection confirms that we are not sufficiently prepared for these unforeseen infections. The COVID-19 pandemic has cultivated a great sense of fear and distrust in patients. If viral infections, in this case, SARS-CoV-2, overlap with another infection, the symptoms are prolonged and worsened, and complications may occur. Starting from an objective clinical finding of a patient they had in follow-up and treatment, the authors present the problems of the diseases the patient suffered from. These are described as reviews so that readers can get an idea of the clinical methods of expression and the therapeutic possibilities. Therefore, this article describes Lyme disease and post-treatment Lyme disease syndrome, SARS-CoV-2 infection, and multisystem inflammatory syndrome in children (MISC-C), as the patient suffered from an incomplete form of Kawasaki disease. During the treatment for Lyme disease, the patient also contracted the influenza type A virus. Although any of these diseases could have the potential for serious evolution, our patient still went through these infections relatively well. This can be explained by the fact that the patient had a slow immune response to the aforementioned infections, which allowed him to survive these diseases relatively easily, unlike other individuals who have an exaggerated immune response or who suffer from serious immune involvement, e.g., hepatitis B with a fulminant response. The case was presented chronologically, but at the same time, all particular infection manifestations were accurately described. For these reasons, the article is presented in the form of a review, exemplified by the case itself. Of the 52 cases of MISC-C found in the Pediatrics Clinic II of Cluj-Napoca, we present the case of a male patient who presented with Lyme disease, post-treatment Lyme disease syndrome, Kawasaki disease, and MISC-C incomplete form.

Neurofibromatosis in Children: Actually and Perspectives.

The three types of neurofibromatosis, namely type 1, type 2, and schwannomatosis, are generally associated with various benign tumors affecting the skin and the nervous system. On rare occasions, especially in patients with neurofibromatosis type 1 (NF1), malignant neoplasms may also be present, several of them possessing a more aggressive course than in individuals without this syndrome. As such, a clear delineation between the three variants of neurofibromatosis is crucial to establish the correct diagnosis and management, as well as predict the neoplasm-related outcomes. Neurofibromin, the principal product of the NF1 gene, is a potent inhibitor of cellular proliferation, having been linked to several key signaling pathways involved in tumor growth. Therefore, it may provide a useful therapeutic target for tumor management in these patients. In this article, we want to present the association between deficiency of neurofibromin and the consequences of the lack of this protein leading to different kinds of malignant tumors. The therapy is still uncertain and most therapeutic options are in development or clinical trials.

Correlation between Interleukin 31 and clinical manifestations in children with atopic dermatitis: an observational study.

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.

Laboratory Negative Predictive Factors for the Occurrence of Cardiac Complications in Children with Kawasaki Disease.

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.

Food Allergy a Constant Concern to the Medical World and Healthcare Providers: Practical Aspects.

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.

Quality of Life in Children with Juvenile Idiopathic Arthritis.

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.

Guillain-Barré Syndrome With a Peculiar Course: A Case Report.

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.

Lights and Shadows of the Perception of the Use of Telemedicine by Romanian Family Doctors During the COVID-19 Pandemic.

INTRODUCTION: Telemedicine has emerged as a critical technology to mitigate SARS-CoV-2 infection. We aim in this work to explore how general practitioners (GPs) perceived the use of telemedicine, recently recognized and reimbursed by the Public Health Insurance House (PHIH) for primary care (PC) provision. METHODS: A cross-sectional study was performed in 2020 in one county of Romania using an anonymous questionnaire that assessed physicians' perceptions regarding teleconsultation, reliability in tele-decision, remote pathology management, pregnant women's surveillance, patients' satisfaction with telemedicine, the need for its further reimbursement. Bivariate correlation was used to measure associations between the investigated issues. RESULTS: More than a quarter of GPs (28.6%) found it easier to address patients' healthcare needs remotely, while 60.7% considered time-consuming teleconsultations compared to face-to-face visits. Tele-diagnostic uncertainty was expressed by 64.3% of physicians, and a quarter were confident in tele-decisions. Almost half of GPs (43%) observed patients' satisfaction with tele-visits, while half said patients encountered difficulties using technology. A large percentage of doctors (62.5%) perceived that patients felt as well treated by virtual as in-person visit and 91.1% suggested post-pandemic reimbursement. The results of the bivariate correlation showed that physicians who perceived positive patient feedback on telemedicine were more supportive of subsequent reimbursement. CONCLUSION: This study showed the GPs' positive perception of the use of telemedicine. Its adoption in PC has shed light on the shadows of the pandemic. The time-consuming nature of teleconsultations, uncertainty in tele-decisions, patients' difficulties in using technology were seen as shadows of telecare. However, most of the GPs surveyed agreed with the need for further reimbursement. Future work should focus on innovative solutions for integrating telemedicine as complementary form of PC, the need for telemedicine-based training for GPs to improve capacity building, and patients' perceptions of virtual care, helping to build trust and satisfaction.

A Mutation in the SCN1A Gene With a Peculiar Course: A Case Report.

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.

Different Chronic Disorders That Fall within the Term Juvenile Idiopathic Arthritis.

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.

MiRNAs roles in the diagnosis, prognosis and treatment of colorectal cancer.

Introduction: The liver is the main location for metastasization in stage IV colorectal cancers. Areas covered: This review intends to comprehensively present the most important studies conducted in the past few years concerning the role of miRNAs in colorectal cancer liver metastases, trying to clarify some aspects regarding tumor biology and favorite liver metastasization site. Expert commentary: Recent advances in tissue and serum RNA extraction has considerably improved the field of microRNAs studies. These molecules known to play a crucial role in the metastatic stage indicate a starting point in the development of clinical biomarkers with a possible role in the stratification of high-risk patients for adequate treatment.

Investigations of cellular immunity in juvenile idiopathic arthritis.

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.

Colorectal cancer: evolution of screening strategies.

BACKGROUND AND AIM: Colorectal cancer is considered to be a major public health problem. It is the third most frequent cancer at a global level and also the fourth most frequent cause of death. Previous scientific findings have proved that a significant percentage of colorectal cancer deaths are due to the abscence of screening. The aim of this review is to present the evolution of the screening strategies by using the most recommended and recent colorectal cancer screening guidelines. METHODS: A systematic literature search on the scientific databases was performed, identifying some of the most important colorectal cancer screening guidelines publications. RESULTS: The most recent guidelines of American Cancer Society (2018) recommend that adults aged 45 years and older with an average risk of colorectal cancer should undergo regular screening. All the guidelines have considered fecal occult blood testing (annual or biennial), fecal immunochemical test (annual), flexible sigmoidoscopy (every 5 years) and colonoscopy (every 10 years) as the most preferred screening options. However, there are discrepancies with regards to which tests should be preferred for screening. CONCLUSION: Increased compliance with colorectal cancer screening recommendations has the potential to improve patients' health and to reduce colorectal cancer morbidity and mortality rates. It is important for health care providers to have an understanding of the risk factors for colorectal cancer and various stages of disease development in order to recommend appropriate screening strategies.

Antinuclear Antibodies: Marker of Diagnosis and Evolution in Autoimmune Diseases.

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.

Pearson Syndrome, A Medical Diagnosis Difficult to Sustain Without Genetic Testing.

BACKGROUND: The detection of sideroblastic anemia in a newborn may suggest developing Pearson syndrome. The prognosis of these patients is severe and death occurs in the first 3 years of life, so it is important to find new ways of diagnosis. Case Presentation: In the case of our patient the diagnosis was supported only at the age of 5 months, highlighting the difficulties of diagnosis at this age. CONCLUSIONS: The diagnosis of Pearson syndrome with neonatal onset is difficult to sustain or even impossible at that age. This diagnosis can be confirmed and supported during disease progression.