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Patients with rare diseases are a major challenge for healthcare systems. These patients face three major obstacles: late diagnosis and misdiagnosis, lack of proper response to therapies, and absence of valid monitoring tools. We reviewed the relevant literature on first-generation artificial intelligence (AI) algorithms which were designed to improve the management of chronic diseases. The shortage of big data resources and the inability to provide patients with clinical value limit the use of these AI platforms by patients and physicians. In the present study, we reviewed the relevant literature on the obstacles encountered in the management of patients with rare diseases. Examples of currently available AI platforms are presented. The use of second-generation AI-based systems that are patient-tailored is presented. The system provides a means for early diagnosis and a method for improving the response to therapies based on clinically meaningful outcome parameters. The system may offer a patient-tailored monitoring tool that is based on parameters that are relevant to patients and caregivers and provides a clinically meaningful tool for follow-up. The system can provide an inclusive solution for patients with rare diseases and ensures adherence based on clinical responses. It has the potential advantage of not being dependent on large datasets and is a dynamic system that adapts to ongoing changes in patients' disease and response to therapy.

Adjusting the chronological age of preterm infants according to their gestational age is a widely accepted practice in the field of neurodevelopment. It has been suggested for the assessment of preterm infants with suspected infection, but has been poorly validated. Correcting for chronological age is especially critical in infants with a chronological age above 3 months, but a corrected age below 3 months due to the differences in assessment protocols. This study assessed the difference in incidence of serious bacterial infection (SBI) according to chronological and corrected age in preterm infants. A retrospective analysis of pediatric emergency department (PED) presentations was conducted for all 448 preterm infants born in between January 2010 and August 2019. Of the 448 preterm infants, 204 (46%) presented at one of 3 PEDs in Jerusalem, Israel, during their first year of life. Overall, 141 (31.4%) presented with fever and were included in the study. The infants were divided into 3 age groups: 1—corrected age >3 months; 2—chronological age >3 months, but corrected age

To compare tickborne relapsing fever (TBRF) in children and adults in Jerusalem, Israel, we collected data from the medical records of all 92 patients with TBRF during 2004–2018. The 30 children with TBRF had more episodes of fever and lower inflammatory markers than adult patients.

Background Evaluation of a child with POC/OC is complicated due difficulties in physical examination and risks of imaging by computed tomography. Method Retrospective review of children 0-16 years admitted to the pediatric emergency department for POC/OC from 2009 to 2019. Results Ten years study period, 243 children younger than 16 years presented to the pediatric emergency department with a diagnosis of POC/OC. OC was documented in 51 (20.6%) patients. The mean age was 7.8 years (±4.3 years). Fever (80.4%), upper respiratory tract infection (43%), swelling of both eyelids (96%), proptosis (33.3%), and tenderness on percussion (24.5%) were more common in comparison to POC (P = 0.0001, 0.03, 0.0001, 0.0001, 0.0001 respectively). All children with suspected diagnosis of OC underwent computed tomography scan. POC accounted for 196 patients. Mean age was 4.6 (±4.3) years. Twenty percent of the cases were recorded as local trauma or insect bite in the infected eye.Mean leukocyte count in the OC group had higher mean of 15.2 (10/L) versus 13.4(10/L) (P = 0.05), absolute neutrophil count was significantly higher in the OC 11.3(10/L) versus 7.2(10/L) (P = 0.0001) whereas the lymphocyte count was higher in the POC 4.5(10/L) versus 2.4(10/L) (P = 0.0001), NLR of 0.318 correlates with orbital cellulitis with sensitivity of 75.5% and specificity of 77.4%.Patients with OC had mean C-reactive protein levels of 11.7 (mg/dL) versus 4.9(mg/dL) (P = 0.0001), erythrocyte sedimentation rate was elevated in the OC 53.6 (cm/h) versus 36.4 (cm/h) (P = 0.02).Based on the aforementioned study a risk calculator for OC was formulated with 6 major variables. Conclusions Differentiation between POC/OC is cardinal. This study highlights the importance of ancillary laboratory tests especially C-reactive protein in the assessment of infections of the eye.

Introduction: Staphylococcus lugdunensis (SL), a tube coagulase negative Staphylococcus , is known to be pathogenic in adults, causing mainly skin infections. Gap Statement: Previous studies assessing SL's role in paediatric populations are sparse and are mainly limited to case reports. Aim: Present the clinical characteristics consistent with SL infections and its putative role as a pathogen in the paediatric population. Methodology: A retrospective multicentre study was conducted in four paediatric medical centres in Israel. Patients with isolates of SL presenting between 2009–2019 were included. Results: SL was isolated from 40 patients. Average (±SD) age at presentation was 5.9 (±6.2) years, with 22 (55 %) being female. Skin, soft tissue and musculoskeletal infections were the most common (n=20, 50%) followed by ear infections (n=13, 32.5%). Five cases of urine isolates and two isolates from blood culture samples were also reported. Skin abscess was the most common infection among skin and soft tissue isolates, reported in 17 children (85%) with SL being the only pathogen in 15 (75%). Otitis media was the most common ear infection accounting for 12 (92%) of all cases with SL as the only isolate reported in 6 (46%). Five cases of SL isolates from urine specimens were reported, all of which with poor growth of bacteria and normal urinalysis. Two cases of SL growth in blood culture were found in children presenting with signs and symptoms consistent with invasive blood stream infection. Conclusions: In the paediatric population, studied infections caused by SL are increasingly observed. The results of this study highlight its role as a pathogen in soft tissue infections and its putative role in otitis media and invasive blood stream infections. However, the role of SL as an uropathogen was not established.

Background: We determined the temporal pattern of early SARS-CoV-2 IgG response in patients with mild COVID-19, and sought to identify predictive clinical and laboratory features. Methods: Serum samples were prospectively obtained from 111 convalescent COVID-19 patients, staying in dedicated Isolation–hotels, and tested for the presence of SARS-CoV-2 IgG by anti-S1 protein ELISA.Results: SARS-CoV-2 IgG was detected in 78 (70.3%) patients tested within the first month from diagnosis. While highly variable between patients, the rate of antibody detection generally increased with time, from 47.1% to 93.8% at the first and fourth weeks from diagnosis, respectively, with the largest shift observed between the second and third week. Notably, the presence of more profound symptoms at presentation, namely, fever and chills, positively and independently correlated with early antibody response. IgG-positive patients had higher ferritin levels (p=0.039). Older age (pConclusions: The identified temporal pattern along with the correlation between inflammation-related clinical and laboratory parameters and early IgG response in patients with mild COVID-19, could provide a basis for better prediction and understating of the immune response to SARS-CoV-2, and inform therapeutic donor-plasma selection.

Type 1 diabetes (T1D) is an autoimmune disease where pancreatic β-cells are destroyed by islet-infiltrating T cells. Although a role for β-cell defects has been suspected, β-cell abnormalities are difficult to demonstrate. We show a β-cell DNA damage response (DDR), presented by activation of the 53BP1 protein and accumulation of p53, in biopsy and autopsy material from patients with recently diagnosed T1D as well as a rat model of human T1D. The β-cell DDR is more frequent in islets infiltrated by CD45+ immune cells, suggesting a link to islet inflammation. The β-cell toxin streptozotocin (STZ) elicits DDR in islets, both in vivo and ex vivo, and causes elevation of the proinflammatory molecules IL-1β and Cxcl10. β-Cell–specific inactivation of the master DNA repair gene ataxia telangiectasia mutated (ATM) in STZ-treated mice decreases the expression of proinflammatory cytokines in islets and attenuates the development of hyperglycemia. Together, these data suggest that β-cell DDR is an early event in T1D, possibly contributing to autoimmunity.

The role of glucosylsphingosine (lyso-Gb1), a downstream metabolic product of glucosylceramide, for monitoring treated and untreated children with Gaucher disease (GD) has not yet been studied. We reviewed the clinical charts of 81 children (