Diagnostic Challenges in Hemophagocytic Lymphohistiocytosis, a Rare, Potentially Fatal Disease: Two Case Studies.

Hemophagocytic lymphohistiocytosis (HLH) is a rare, and potentially fatal, syndrome, characterized by immune system dysregulation, with excessive activation of the macrophages and cytotoxic T cells. It can be classified into primary (genetic) and secondary (acquired) forms. HLH presents with fever, hepatosplenomegaly, cytopenia, and hyperferritinemia, with involvement of various organs. The initial symptoms of HLH are non-specific, but as, if untreated, it can progress rapidly to multiorgan failure, timely diagnosis is essential. We present here two cases of HLH in infants that illustrate the importance of early diagnosis and appropriate treatment, along with a short review of HLH.

Integrating Artificial Intelligence in Pediatric Healthcare: Parental Perceptions and Ethical Implications.

BACKGROUND: Our study aimed to explore the way artificial intelligence (AI) utilization is perceived in pediatric medicine, examining its acceptance among patients (in this case represented by their adult parents), and identify the challenges it presents in order to understand the factors influencing its adoption in clinical settings. METHODS: A structured questionnaire was applied to caregivers (parents or grandparents) of children who presented in tertiary pediatric clinics. RESULTS: The most significant differentiations were identified in relation to the level of education (e.g., aversion to AI involvement was 22.2% among those with postgraduate degrees, 43.9% among those with university degrees, and 54.5% among those who only completed high school). The greatest fear among respondents regarding the medical use of AI was related to the possibility of errors occurring (70.1%). CONCLUSIONS: The general attitude toward the use of AI can be considered positive, provided that it remains human-supervised, and that the technology used is explained in detail by the physician. However, there were large differences among groups (mainly defined by education level) in the way AI is perceived and accepted.

Maternal Bonding as a Protective Factor for Orthorexia Nervosa Risk in Dietetics Students.

This study aimed to determine the prevalence of the risk of orthorexia nervosa (ON) in dietetics students in Greece, and its relationship with diet, risk of eating disorder (ED), body mass index (BMI), body image flexibility, and parental attachment. The participants were 132 dietetics students, with a mean age of 22.94 ± 3.5 years, who completed a series of questionnaires that recorded sociodemographic, clinical, and anthropometric characteristics; adherence to the Mediterranean diet (MedDiet); ON indicators as determined by the ORTO-15 questionnaire; body image flexibility, with the Body Image-Acceptance and Action Questionnaire (BI-AAQ-5); the risk for ED as assessed using the EAT-26; anxiety level according to the STAIT 6 instrument; and recollection of their parents' attitudes towards them during the first 16 years of life, with the Parental Bonding Instrument (PBI). ON risk appeared to be significantly associated with BMI (p = 0.002), exercise frequency (p = 0.023), anxiety level (p = 0.002), risk of ED (p < 0.001), body image inflexibility (p < 0.001), and inversely with the affectionate constraint of maternal bonding (p = 0.036). In conclusion, disordered eating behaviors and body shape concerns are prevalent among dietetics students, with parental attachment to the mother influencing their occurrence. Identification of potential ON and development of prevention mechanisms during childhood could help eliminate these concerns and improve the lives of dietetics students.

The Challenging Diagnosis of Interstitial Lung Disease in Children-One Case Report and Literature Review.

Childhood interstitial lung disease (chILD) includes a heterogeneous spectrum of rare respiratory disorders in children associated with substantial morbi-mortality. Interstitial tissue, and other pulmonary structures, epithelium, blood vessels, or pleura are involved, resulting in a restrictive lung disfunction. Respiratory symptoms set in progressively and are often subtle, making thorough clinical history and physical examination fundamental. The etiology often is obscure. The clinical presentation mimics pneumonia or asthma, leading to a diagnostic delay. Challenging diagnosis may require genetic tests, bronchoalveolar lavage, or lung biopsy. Alongside general supportive therapeutic measures, anti-inflammatory, immunosuppressive or antifibrotic agents may be used, based on data derived from adult studies. However, if accurate diagnosis and treatment are delayed, irreversible chronic respiratory failure may ensue, impacting prognosis. The most frequent chILD is hypersensitivity pneumonitis (HP), although it is rare in children. HP is associated with exposure to an environmental antigen, resulting in inflammation of the airways. Detailed antigen exposure history and identification of the inciting trigger are the cornerstones of diagnostic. This article provides the current state of chILD, revealing specific features of HP, based on a clinical case report of a patient admitted in our clinic, requiring extensive investigations for diagnosis, with a favorable long-term outcome.

The role of lung ultrasonography in predicting the clinical outcome of complicated community-acquired pneumonia in hospitalized children.

AIMS: This study's objective was to analyze lung ultrasonography (LUS) characteristics in hospitalized pediatric patients with complicated community-acquired pneumonia (CAP). We hypothesized that LUS could be correlated with the clinical outcome in these cases. MATERIALS AND METHODS: In this retrospective study, we evaluated the LUS appearances (at admission and five days after the beginning of the treatment) and the progression of complicated CAP. RESULTS: We identified 45 patients who fulfilled the inclusion criteria. Several complications occurred in these subjects during follow-up including: serofibrinous pleurisy (62.2%), empyema (15.6%), encapsulated pleurisy (11.1%), lung abscess (6.7%) and necrotizing pneumonia (2.2%). In addition, 22.2% of the patients required surgical treatment: draining tube (11.1%), decortication (6.7%) and resection (4.4%). Intensive care unit admission was needed in 8.9% of patients. The median duration of hospitalization was 14 [9.7; 19.7] days. The thickness of pleural effusion with a cut-off value of 10 mm seen by LUS was a predictor for the need for continuous thoracic drainage (p<0.01), segmentectomy or thoracoscopic surgery (p=0.03) and prolonged hospitalization over 10 days (p<0.01). Hyperechogenic pleural effusion, presence of septa and fluid bronchogram on 1st LUS evaluation were independent predictors of segmentectomy or thoracoscopic decortication (p<0.01) and of longer hospitalization (p=0.02, p<0.01, p<0.01 respectively). CONCLUSIONS: The ultrasound characteristics of complicated CAP can offer valuable information to predict the clinical evolution of CAP and so can help the development of personalized medical management plans in these patients.

Clinical Experience with Anti-IgE Monoclonal Antibody (Omalizumab) in Pediatric Severe Allergic Asthma-A Romanian Perspective.

BACKGROUND: Asthma is the most common chronic disease affecting children, with a negative impact on their quality of life. Asthma is often associated with comorbid allergic diseases, and its severity may be modulated by immunoglobulin E (IgE)-mediated allergen sensitization. Omalizumab is a humanized monoclonal anti-IgE antibody, the first biological therapy approved to treat patients aged ≥6 years with severe allergic asthma. The primary objective of our study was to investigate the efficacy and safety of Omalizumab in Romanian children with severe allergic asthma. METHODS: In this observational real-life study, 12 children and adolescents aged 6 to 18 years (mean 12.4 years) with severe allergic asthma received Omalizumab as an add-on treatment. Asthma control, exacerbations, lung function, and adverse events were evaluated at baseline and after the first year of treatment. RESULTS: We observed general improvement in total asthma symptom scores and reduction in the rate of exacerbation of severe asthma. Omalizumab treatment was associated with improvement in the measures of lung function, and no serious adverse reactions were reported. FEV1 improved significantly after one year of treatment with Omalizumab [ΔFEV1 (% pred.) = 18.3], and [similarly, ΔMEF50 (%) = 25.8]. The mean severe exacerbation rate of asthma decreased from 4.1 ± 2.8 to 1.15 ± 0.78 (p < 0.0001) during the year of treatment with Omalizumab. CONCLUSIONS: This study showed that Omalizumab can be an effective and safe therapeutic option for Romanian children and adolescents with severe allergic asthma, providing clinically relevant information on asthma control and exacerbation rate in children and adolescents. The results demonstrated the positive effect of Omalizumab in young patients with asthma, starting from the first year of treatment.

The Impact of SARS-CoV-2 Pandemic on the New Cases of T1DM in Children. A Single-Centre Cohort Study.

Type 1 diabetes mellitus (T1DM) represents one of the most frequent chronic illnesses affecting children. The early diagnosis of this disease is crucial, as it plays a key role in preventing the development of a life-threatening acute complication: diabetic ketoacidosis. The etiopathogenetic role of viral infections has long been suggested and emerging data are pointing towards a complex bidirectional relationship between diabetes and COVID-19. The aim of this study is to assess the impact of the COVID-19 pandemic on the incidence and severity of new T1DM cases in children in Romania. We analyzed the differences between a group of 312 patients diagnosed with T1DM in the period 2003-2019 and a group of 147 children diagnosed during the pandemic. The data were investigated using statistical analysis of a series of relevant variables. The total number of newly diagnosed T1DM increased by 30.08% in the period March 2020-February 2021 compared to the previous years. The patients in the pandemic group had a higher mean age at the onset of T1DM, were less frequently living in an urban area, and presented a higher mean value of HbA1c. Diabetic ketoacidosis at the onset of T1DM was 67.40% more frequent, and a higher percentage of these patients presented with a severe form. The duration of T1DM symptoms did not differ significantly between the two groups. A number of 8 patients associated SARS-CoV-2 infection at the time of T1DM diagnosis.

The Challenging Diagnosis of Pediatric Multisystem Inflammatory Syndrome Associated with Sars-Cov-2 Infection-Two Case Reports and Literature Review.

Severe acute respiratory coronavirus 2 (SARS-CoV-2) is a novel coronavirus discovered in 2019 that caused the coronavirus disease 2019 (COVID19). During the last year, over 70 million people were infected and more than 1.5 million people died. Despite the tremendous number of people infected, children were less affected and presented milder forms of the disease. A short time after the pandemic was declared, a new hyperinflammatory syndrome resembling Kawasaki disease (KD) was described in children with confirmed or suspected SARS-CoV-2 infection named multisystem inflammatory syndrome in children (MIS-C). The incidence of MIS-C is low and it has a polymorphous clinical presentation, making the diagnosis difficult. Although the incidence is reduced, there is a high risk of cardiovascular complications. In order to raise awareness, we present the cases of two pediatric patients diagnosed with MIS-C in our clinic.

Myopericarditis Associated with COVID-19 in a Pediatric Patient with Kidney Failure Receiving Hemodialysis.

The outbreak of COVID-19 can be associated with cardiac and pulmonary involvement and is emerging as one of the most significant and life-threatening complications in patients with kidney failure receiving hemodialysis. Here, we report a critically ill case of a 13-year-old female patient with acute pericarditis and bilateral pleurisy, screened positive for SARS-CoV-2 RT-PCR, presented with high fever, frequent dry cough, and dyspnea with tachypnea. COVID-19-induced myopericarditis has been noted to be a complication in patients with concomitant kidney failure with replacement therapy (KFRT). This article brings information in the light of our case experience, suggesting that the direct effect of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection on cardiac tissue was a significant contributor to myopericarditis in our patient. Further studies in this direction are required, as such associations have thus far been reported.

Pulse Wave Velocity as a Marker of Vascular Dysfunction and Its Correlation with Cardiac Disease in Children with End-Stage Renal Disease (ESRD).

One of the main markers of arterial stiffness is pulse wave velocity (PWV). This parameter is well studied as a marker for end-organ damage in the adult population, being considered a strong predictor of major cardiovascular events. This study assessed PWV in children with chronic kidney disease (CKD) as a marker of cardiovascular risk. We conducted a prospective observational single-center cohort study of 42 consecutively pediatric patients (9-18 years old) with terminal CKD and dialysis, at the Hemodialysis Department of the "M. S. Curie" Hospital, Bucharest. We measured PWV by echocardiography in the ascending aorta (AscAo) and the descending aorta (DescAo), and we correlated them with left ventricular hypertrophy (LVH). Fifteen patients (35.7%) presented vascular dysfunction defined as PWV above the 95th percentile of normal values in the AscAo and/or DescAo. Cardiac disease (LVH/LV remodeling) was discovered in 32 patients (76.2%). All patients with vascular damage also had cardiac disease. Cardiac damage was already present in all patients with vascular disease, and the DescAo is more frequently affected than the AscAo (86.6% vs. 46.9%). Elevated PWV could represent an important parameter for identifying children with CKD and high cardiovascular risk.

Respiratory Failure in a Rare Case of Juvenile Dermatomyositis - Systemic Scleroderma Overlap Syndrome.

Juvenile dermatomyositis (JDM) is one of the pediatric systemic connective tissue disorders, consisting of an idiopathic inflammatory myopathy, affecting primarily skin and muscle, representing approximately 85% of cases in this group. A significant source of morbidity is the occurrence of overlap characteristics with other connective tissue disorders, including systemic sclerosis (SSc). Overlap JDM/SSc syndrome is rare in children, with only a few reported cases. The diagnosis is often challenging, presence of anti-PM/Scl antibodies playing a pivotal role. Although SSc/JDM overlap syndrome has less frequent visceral involvement, pulmonary dysfunction may occur. The respiratory function evaluation using overnight cardiorespiratory polygraphy may reveal important alveolar hypoventilation with impact on therapeutic approach. Non-invasive ventilation may be indicated to potentiate medical treatment. In the acute phase, non-invasive ventilation is a life-saving therapeutic option until the maximum efficiency of drug treatment is reached. In the case of a complex respiratory pathology, associating elements of nocturnal alveolar hypoventilation specific to neuromuscular disease, with that of chronic interstitial lung disease, the evaluation of respiratory sleep disorders should be considered, sometimes requiring home nocturnal noninvasive ventilatory support. We present the case of a 15-year-old girl who was admitted to our clinic with a history of high fever, productive cough and severe dyspnea. Detailed anamnesis revealed that the patient accused oneyear history of proximal muscle weakness of the lower limbs, with functional limitations, weight loss, dysphonia, swallowing difficulties and dyspnea at minimal efforts. Following the physical examination, laboratory and imagistic investigations were all suggestive for an inflammatory myopathy. Anti-PM/Scl antibodies were positive, confirming the diagnosis of a severe form of JDM/SSc overlap syndrome, with minimal cutaneous changes, significant muscle involvement and respiratory distress. Complex therapy using antimicrobial agents, steroid pulse therapy, immunosuppressive agents, non-invasive ventilation, masticaoxygen supplementation and physiotherapy was started, with significant status improvement. However, pulmonary function tests maintained severe restrictive aspect and nocturnal cardio-pulmonary polygraphy revealed residual pulmonary failure with important nocturnal alveolar hypoventilation. Nocturnal non-invasive ventilation was continued at home, along with medical treatment. Her disease was clinically well controlled, immunosuppressive therapy was decreased and interruption of ventilatory support was possible at six months after the diagnosis.

Evolutionary Particularities in a Case of Severe Pneumonia in Children - Case Report.

Necrotizing pneumonia remains an uncommon complication of pneumonia in children, but its incidence is increasing. Pneumococcal infection is the predominant cause of severe necrotizing pneumonia in children, but methicillin resistant Staphylococcus aureus (MRSA) and Panton-Valentine leukocidin (PVL) staphylococcal infections are also important. We present the case of a four-year-old girl,with an unremarkable medical history, who was admitted in our hospital with a history of high fever, productive cough and tachypnea lasting for 10 days, progressive worsening despite empirical oral antibiotic. Following physical examination, laboratory investigations and thoracic radiography, we established the diagnosis of left lower lobe pneumonia with parapneumonic effusion, acute respiratory failure and sepsis. Medical treatment with systemic antibiotics was initiated, but the evolution was unfavorable. Seriated chest X-rays and also high resolution computed tomography with contrast of the lung were performed, revealing the progression to extensive necrotizing pneumonia with multiple cystic lesions causing right mediastinal deflection. The parenteral broad spectrum antibiotic regimen was adjusted, still with unfavorable evolution, requiring surgical treatment (left inferior lobectomy and pleural draining). Postoperatively, recovery was uneventful. The patient was discharged with clinical and laboratory improvement of his condition, a repeated chest X-ray showing good expansion of upper left parenchyma.

Central Sleep Apnea - a Rare Cause for Acute Respiratory Insufficiency in Children. Case Report.

Central sleep apnea is characterized by frequent cessation of breathing during sleep, resulting in repetitive episodes of insufficient ventilation and abnormalities of acid-base balance. It may be primary or secondary, and it is uncommon in children, with limited data for this population. We present here the case of a five-year-old girl, known to have thoracolumbar myelomeningocele (for which she underwent a surgical procedure in infancy), secondary hydrocephalus (with a ventriculoperitoneal shunt) and flaccid paralysis, who was admitted in our hospital with prolonged fever syndrome, productive cough, severe dyspnea and perioral cyanosis. Following physical examination, laboratory investigations and thoracic radiography, we established the diagnosis of aspiration pneumonia with acute respiratory failure. Medical treatment with multiple systemic antibiotics, antifungal agents, systemic and inhaled bronchodilator, oxygen therapy and respiratory nursing were initiated, with favorable evolution. During the entire hospitalization, the patient showed nocturnal respiratory rhythm disorders, with sleep apnea crisis of approximately 20 seconds and desaturation, followed by severe hypercapnic respiratory acidosis, manifestations that persisted even after the remission of pulmonary infection, raising the suspicion of an apnea syndrome. After excluding the causes of obstructive apnea, a cerebral CT scan was performed, revealing isolated fourth ventricle compressing the brainstem. The patient underwent neurosurgical intervention and postoperatively, the evolution was favorable, with remission of apnea crisis.

Allergic bronchopulmonary aspergillosis in patient with cystic fibrosis - a case report.

Asthma with allergic bronchopulmonary aspergillosis (ABPA), a hypersensitivity disease of the lungs due to an immune response to Aspergillus fumigattus (Af) antigens, is rarely seen in children, other than complicating cystic fibrosis. We present the case of a 14 - year- old female teenager with cystic fibrosis (CF), admitted in our hospital with respiratory failure and persistent cyanosis. Chest X-ray showed perihilar and upper lobes pulmonary infiltrates. Her airway cultures were positive for methicillin resistant staphilococcus aureus (MRSA) and non-mucoid Pseudomonas aeruginosa. She was prescribed intravenous antibiotherapy with ceftazidime and vancomycine (to which MRSA and Pseudomonas aeruginosa were susceptible). Pulmonary function testing (PFT) revealed severe obstructive lung disease. After ten days of intravenous antibiotics and first five days of corticosteroid, the patient's FEV1 was 68% of predicted. Total serum IgE and IgE antibodies to Aspergillus fumigatus were elevated. These results raised the possibility of allergic bronchopulmonary aspergillosis (ABPA). The possibility of ABPA should be considered in all pulmonary exacerbation and in order to determine if ABPA is developing or if an exacerbation is occurring, a serial monitoring of IgE levels should be performed.