Micturition Syncope in Childhood: How to Recognize and Manage It.

Frequently, general pediatricians could face a patient with syncope, which represents approximately 1% to 3% of emergency visits. Micturition syncope is a transient loss of consciousness with onset immediately before, during, or after micturition. Literature evidence indicates that healthy young men are a population with major risk for presenting micturition syncope, with a peak of incidence around 40 to 50 years of age. Usually, this syncope occurs in the morning, after wake-up, or, more generally, when the male patients assume the orthostatic position after a period of supine position in a warm bed. No information on micturition syncope clinical presentation and prevalence in childhood is available in the literature, and probably, this kind of syncope is unrecognized in childhood. We describe 4 unreported pediatric patients with a diagnosis of micturition syncope and well-defined clinical presentation. In all patients, the syncope has been presented in the same conditions: in the morning; after wake-up; in an orthostatic position; just before, after, or during urinary bladder voiding; and with spontaneous recovery in few minutes. Interestingly, 1 patient presented with the syncope during urinary bladder voiding by autocatheterization. In our patients, all investigations made as the first approach in the pediatric emergency department did not show any abnormal results, possibly underlying the syncope episodes. By describing our experience, we want to underline the clinical presentation of micturition syncope and give to the clinicians the elements to recognize and manage it easily in children.

Outcomes of a Cohort of Prenatally Diagnosed and Early Enrolled Patients with Congenital Solitary Functioning Kidney.

PURPOSE: We evaluated the clinical course of patients prenatally diagnosed and enrolled early with congenital solitary functioning kidney, and identified the risk factors for renal injury. MATERIALS AND METHODS: We retrospectively evaluated 322 patients with congenital solitary functioning kidney according to the inclusion criteria of 1) prenatal diagnosis of solitary kidney; 2) first evaluation at 1 to 3 months of life with confirmation of congenital solitary functioning kidney, and evaluation of possible associated congenital anomalies of the kidney and urinary tract by abdominal ultrasound, renal scintigraphy and cystography; and 3) absence of any condition potentially affecting renal function in the neonatal period as well as absence of renal injury at enrollment (1 to 3 months of life) confirmed by a normal estimated glomerular filtration rate, lack of proteinuria and hypertension. Followup of 306 patients was evaluated. RESULTS: Median followup was 7.2 years (range 1 to 23) and 1 or more signs of renal injury were found in 12 of 306 patients (3.9%). Considering the entire population the cumulative proportion of patients free from renal injury at 17 years old was 93.7%, vs 81.3% and 95.9% for subjects with and those without congenital anomalies of the kidney and urinary tract of congenital solitary functioning kidney (p <0.001), respectively. Of congenital anomalies of the kidney and urinary tract, congenital solitary functioning kidney resulted in significant risk factors for renal injury (HR 8.75, 95% CI 2.77-27.65). CONCLUSIONS: In an evaluation of a large cohort of patients enrolled early with congenital solitary functioning kidney with a prenatal diagnosis, excluding those with neonatal onset of renal damage, the prevalence of renal damage was 3.9%. Among congenital anomalies of the kidney and urinary tract, congenital solitary functioning kidney represented the major risk factor.

Assessment of Volume Status and Appropriate Fluid Replenishment in the Setting of Nephrotic Syndrome.

BACKGROUND: When the permeability of the glomerular filtration barrier increases, leading to proteinuria, nephrotic syndrome (NS) occurs. First episodes or relapses of NS can be concurrent with acute gastroenteritis (AGE) infections. This condition can cause further deterioration of the hypovolemic state, as intravascular water is lost through both AGE-related vomiting/diarrhea and NS-related fluid shifting into the interstitium. In this case report, we wish to raise the issues about the difficult management of children presenting with both NS and AGE. CASE REPORT: We report two cases characterized by concurrence of NS and AGE. Despite our intervention, case #1 required dialysis, whereas in the case #2 we restored the patient's liquid homeostasis. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: No guidelines helping general physicians in the management of children presenting with both NS and AGE are available in the literature. However, it is common for these patients to seek the first line of treatment at emergency departments. In these patients, restoring the liquid homeostasis is a challenge, but some key points can help the physicians with first-line management: 1) carefully evaluate the signs of hypovolemia (edematous state can be misleading); 2) bear in mind that-in hypovolemic, severely hypoalbuminemic (serum albumin levels < 2 g/dL) NS children-initial fluid administration should be followed by a 20% albumin infusion if oligoanuria persists; intravenous 4.5% albumin may be a valid alternative as a first-line therapy instead of crystalloid and 20% albumin; and 3) pay attention when using furosemide; it should only be administered after albumin infusion or after hypovolemia correction.

Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.

BACKGROUND: Cornelia de Lange syndrome is the prototype for cohesinopathy disorders, which are characterized by defects in chromosome segregation. Kidney malformations, including nephrogenic rests, are common in Cornelia de Lange syndrome. Only one post-mortem case report has described an association between Wilms tumor and Cornelia de Lange syndrome. Here, we describe the first case of a living child with both diseases. CASE PRESENTATION: Non-anaplastic triphasic nephroblastoma was diagnosed in a patient carrying a not yet reported mutation in NIPBL (c.4920 G > A). The patient had the typical facial appearance and intellectual disability associated with Cornelia de Lange syndrome in absence of limb involvement. The child's kidneys were examined by ultrasound at 2 years of age to exclude kidney abnormalities associated with the syndrome. She underwent pre-operative chemotherapy and nephrectomy. Seven months later she was healthy and without residual detectable disease. CONCLUSION: The previous report of such co-occurrence, together with our report and previous reports of nephrogenic rests, led us to wonder if there may be any causal relationship between these two rare entities. The wingless/integrated (Wnt) pathway, which is implicated in kidney development, is constitutively activated in approximately 15-20 % of all non-anaplastic Wilms tumors. Interestingly, the Wnt pathway was recently found to be perturbed in a zebrafish model of Cornelia de Lange syndrome. Mutations in cohesin complex genes and regulators have also been identified in several types of cancers. On the other hand, there is no clear evidence of an increased risk of cancer in Cornelia de Lange syndrome, and no other similar cases have been published since the fist one reported by Cohen, and this prompts to think Wilms tumor and Cornelia de Lange syndrome occurred together in our patient by chance.

Exploring Nutritional Influence on Blood Glucose Forecasting for Type 1 Diabetes Using Explainable AI.

Type 1 diabetes mellitus (T1DM) is characterized by insulin deficiency and blood sugar control issues. The state-of-the-art solution is the artificial pancreas (AP), which integrates basal insulin delivery and glucose monitoring. However, APs are unable to manage postprandial glucose response (PGR) due to limited knowledge of its determinants, requiring additional information for accurate bolus delivery, such as estimated carbohydrate intake. This study aims to quantify the influence of various meal-related factors on predicting postprandial blood glucose levels (BGLs) at different time intervals (15 min, 60 min, and 120 min) after meals by using deep neural network (DNN) models. The prediction models incorporate preprandial blood glucose values, insulin dosage, and various meal-related nutritional factors such as intake of energy, carbohydrates, proteins, lipids, fatty acids, fibers, glycemic index, and glycemic load as input variables. The impact of input features was assessed by exploiting eXplainable Artificial Intelligence (XAI) methodologies, specifically SHapley Additive exPlanations (SHAP), which provide insights into each feature's contribution to the model predictions. By leveraging XAI methodologies, this study aims to enhance the interpretability and transparency of BGL prediction models and validate clinical literature hypotheses. The findings can aid in the development of decision-support tools for individuals with T1DM, facilitating PGR management and reducing the risks of adverse events. The improved understanding of PGR determinants may lead to advancements in AP technology and improve the overall quality of life for T1DM patients.

Clinical presentation and metabolic features of overt and occult urolithiasis.

Although pediatricians are frequently confronted with patients presenting urolithiasis symptoms without obvious stones, the syndrome of occult urolithiasis may be still viewed with some skepticism. We have compared the clinical and metabolic features of 197 children with obvious calculi, 189 with microcalculi (diameter ≤ 3 mm based on renal sonography), and 114 with symptoms of urolithiasis and normal renal sonography findings. Only microcalculi and normal sonography subjects with a urinary abnormality potentially leading to urolithiasis were included in the study. Age at presentation increased significantly (p = 0.0001) in the groups in the order normal sonography to microcalculi to calculi groups. There was no significant difference among the three groups in terms of family history of urolithiasis, gender distribution, and degree of hypercalciuria, hyperuricosuria, hyperoxaluria, or hypocitraturia. The average frequency of pain attacks of patients with recurrent abdominal pain (RAP) ranged from 3.6 to 4.6 days of pain per month among the three groups, which is four to ninefold lower than that reported for children with functional or organic gastrointestinal RAP. The consistency of many clinical and urinary metabolic characteristics indicates a common underlying disorder in overt and occult urolithiasis. The increase of age at presentation from the normal sonography to microcalculi and calculi groups may reflect progressive crystal accretion leading ultimately to overt stone formation.

Foreign Body Aspiration in Children-Diagnostic Clues through a Clinical Case.

Foreign body aspiration is common in the pediatric age group, especially in males. Despite the high frequency of this potentially life-threatening event, it is not always easy to recognize it given the high variability of the clinical presentation and the potential of "pauci-symptomatic" inhalation. Moreover, a variable latency of the onset of symptoms since the moment of aspiration may be possible determining difficulties in the identification of the inhalation on an anamnestic basis. We describe the case of a 19-month-old boy who accessed the emergency room initially for a head trauma. The clinical evaluation, however, revealed an unexplained serious respiratory distress needing tracheal intubation. After our evaluation, we hypothesized that the severe respiratory distress determined an altered state of consciousness with following head trauma. The radiological findings raised the suspicion of foreign body aspiration for the presence of an atelectasis of the entire left lung. The computed tomography showed an abrupt interruption of the main bronchus at 12 mm from the hull. The following bronchoscopy identified an almond of 2 cm. We will review the literature to underline the diagnostic issues behind foreign body aspiration in children by highlighting the diagnostic clues that are helpful for emergency clinicians in the management of this condition.

EEG-based measurement system for monitoring student engagement in learning 4.0.

A wearable system for the personalized EEG-based detection of engagement in learning 4.0 is proposed. In particular, the effectiveness of the proposed solution is assessed by means of the classification accuracy in predicting engagement. The system can be used to make an automated teaching platform adaptable to the user, by managing eventual drops in the cognitive and emotional engagement. The effectiveness of the learning process mainly depends on the engagement level of the learner. In case of distraction, lack of interest or superficial participation, the teaching strategy could be personalized by an automatic modulation of contents and communication strategies. The system is validated by an experimental case study on twenty-one students. The experimental task was to learn how a specific human-machine interface works. Both the cognitive and motor skills of participants were involved. De facto standard stimuli, namely (1) cognitive task (Continuous Performance Test), (2) music background (Music Emotion Recognition-MER database), and (3) social feedback (Hermans and De Houwer database), were employed to guarantee a metrologically founded reference. In within-subject approach, the proposed signal processing pipeline (Filter bank, Common Spatial Pattern, and Support Vector Machine), reaches almost 77% average accuracy, in detecting both cognitive and emotional engagement.

Severe hyponatremia in children: a review of the literature through instructive cases.

Hyponatremia is the most common electrolyte disorder in the pediatric population. Symptoms are related to the time in which hyponatremia has developed. The acute presentation could be dramatic, with neurological symptoms like headache, seizure, impaired mental status and even coma. It is essential for the physician to be aware of the possible causes of hyponatremia in the child in order to start a prompt treatment.

EEG-based detection of emotional valence towards a reproducible measurement of emotions.

A methodological contribution to a reproducible Measurement of Emotions for an EEG-based system is proposed. Emotional Valence detection is the suggested use case. Valence detection occurs along the interval scale theorized by the Circumplex Model of emotions. The binary choice, positive valence vs negative valence, represents a first step towards the adoption of a metric scale with a finer resolution. EEG signals were acquired through a 8-channel dry electrode cap. An implicit-more controlled EEG paradigm was employed to elicit emotional valence through the passive view of standardized visual stimuli (i.e., Oasis dataset) in 25 volunteers without depressive disorders. Results from the Self Assessment Manikin questionnaire confirmed the compatibility of the experimental sample with that of Oasis. Two different strategies for feature extraction were compared: (i) based on a-priory knowledge (i.e., Hemispheric Asymmetry Theories), and (ii) automated (i.e., a pipeline of a custom 12-band Filter Bank and Common Spatial Pattern). An average within-subject accuracy of 96.1 %, was obtained by a shallow Artificial Neural Network, while k-Nearest Neighbors allowed to obtain a cross-subject accuracy equal to 80.2%.

High-wearable EEG-based distraction detection in motor rehabilitation.

A method for EEG-based distraction detection during motor-rehabilitation tasks is proposed. A wireless cap guarantees very high wearability with dry electrodes and a low number of channels. Experimental validation is performed on a dataset from 17 volunteers. Different feature extractions from spatial, temporal, and frequency domain and classification strategies were evaluated. The performances of five supervised classifiers in discriminating between attention on pure movement and with distractors were compared. A k-Nearest Neighbors classifier achieved an accuracy of 92.8 ± 1.6%. In this last case, the feature extraction is based on a custom 12 pass-band Filter-Bank (FB) and the Common Spatial Pattern (CSP) algorithm. In particular, the mean Recall of classification (percentage of true positive in distraction detection) is higher than 92% and allows the therapist or an automated system to know when to stimulate the patient's attention for enhancing the therapy effectiveness.

A survey on modern trainable activation functions.

In neural networks literature, there is a strong interest in identifying and defining activation functions which can improve neural network performance. In recent years there has been a renovated interest in the scientific community in investigating activation functions which can be trained during the learning process, usually referred to as trainable, learnable or adaptable activation functions. They appear to lead to better network performance. Diverse and heterogeneous models of trainable activation function have been proposed in the literature. In this paper, we present a survey of these models. Starting from a discussion on the use of the term "activation function" in literature, we propose a taxonomy of trainable activation functions, highlight common and distinctive proprieties of recent and past models, and discuss main advantages and limitations of this type of approach. We show that many of the proposed approaches are equivalent to adding neuron layers which use fixed (non-trainable) activation functions and some simple local rule that constrains the corresponding weight layers.

Correlations between enuresis in children and nocturia in mothers.

OBJECTIVE: To demonstrate a relationship between enuresis and nocturia. MATERIAL AND METHODS: The study investigated 250 mothers (average age 34.6 +/- 3.3 years) whose children attended the Department of Pediatrics of the Second University of Naples because they suffered from enuresis. Data were collected by self-reported questionnaire and personal interview. All women provided written informed consent with guarantees of confidentiality. Both the presence of nocturia in adulthood and enuresis in childhood were taken into account. RESULTS: The overall prevalence of nocturia was 38% (n = 95). There was a history of childhood bedwetting in eight mothers (5%) without nocturia and in 61 mothers (65%) with nocturia; the difference was significant (chi(2) p < 0.01). Moreover, among the 110 enuretic children of nocturic mothers, 69 (62%) suffered from non-monosymptomatic nocturnal enuresis (NMNE), and 34 (56%) of their mothers suffered from NMNE in childhood. Nocturic mothers suffering from non-monosymptomatic enuresis during their childhood had offspring with a higher risk of developing non-monosymptomatic enuresis (odds ratio 4.3 95%, confidence interval 2.6-7.1, p < 0.01). CONCLUSIONS: These findings enabled a close connection between nocturia in adulthood and enuresis in childhood to be hypothesized. Furthermore, this analysis provided evidence of the link between suffering from nocturia, and previously from enuresis, and having children affected by enuresis.

From Skin to Kidneys: Cutaneous Clues of Renal Disease in Children.

BACKGROUND: The skin is often seen as a world apart, but not rarely do cutaneous manifestations reveal signs of systemic disease. OBJECTIVES: The aim of this review is to include in one paper all the possible correlations between nephrological and dermatological manifestations of the same disease in pediatric patients while also keeping in mind that in apparent exclusively dermatological diseases there can be nephrological manifestations as part of the same disorder and vice versa. METHODS: We searched on PubMed for a possible link between skin and kidney matching the following terms and correlated MeSH terms: dermatology, skin, kidney, renal disease, nephrology, pediatrics, child, childhood, vasculitis, and cancer. We selected only articles reporting a link between nephrology and dermatology in pediatrics, and they are all included in this comprehensive review. RESULTS: Kawasaki disease, Henoch-Schönlein purpura, systemic lupus erythematosus, Dent disease, subcutaneous fat necrosis, Langerhans cell histiocytosis, renal cell carcinoma, non-Hodgkin lymphoma, tuberous sclerosis complex and syndromes with increased risk for Wilms tumor, Fabry disease, nail-patella syndrome, neurofibromatosis type 1, Beckwith-Wiedemann syndrome, Adams-Oliver syndrome 1, Apert syndrome, Fanconi pancytopenia syndrome, Pallister-Hall syndrome, and Fanconi pancytopenia syndrome are all conditions in which there can be both nephrological and dermatological manifestations in children. CONCLUSIONS: We could not find any reports that focused attention on the link between nephrological and dermatological manifestations of the same disease in children. It is also important for clinicians to keep in mind that in what may appear to be an exclusively dermatological disease, there can be nephrological manifestations as part of the same disorder and vice versa.