Syndrome In Pediatric Patients Research Articles

Cognitive disengagement syndrome in pediatric patients with long COVID: associations with mood, anxiety, and functional impairment

ABSTRACT Children with long COVID often report symptoms that overlap with cognitive disengagement syndrome (CDS, previously sluggish cognitive tempo (SCT)), a set of behaviors distinct from attention-deficit/hyperactivity disorder (ADHD) including excessive daydreaming, mental fogginess, and slowed behavior and thinking. Those with long COVID also frequently report low mood and anxiety, which are linked to CDS. The relationships between cognitive difficulties, mood, and functional impairment have yet to be explored in pediatric long COVID. Specifically, it is unclear how much cognitive difficulties (CDS, inattention) contribute to functional impairment, when accounting for mood/anxiety symptoms in this population. Retrospective parent-reported data was collected from 34 patients with long COVID (22 females, Mage = 14.06 years, SD = 2.85, range 7–19) referred for neuropsychological consultation through a multidisciplinary Post-COVID-19 clinic. Compared to community and clinically referred samples, on average, long COVID patients showed elevated CDS symptoms, including Sluggish/sleepy (e.g., fatigue) and Low Initiation subscales (e.g., difficulty performing goal directed behaviors). Low Initiation, mood, anxiety, and inattention were associated with functional impairment. In multiple hierarchical regression models, after controlling for mood and anxiety, Low Initiation and inattention were no longer predictive of functional impairment. Instead, anxiety remained the sole predictor of functional impairment. Our results demonstrate that children with long COVID have high levels of CDS symptoms. The association between cognitive difficulties and functional impairment dissipated with the inclusion of mood and anxiety, suggesting behavioral health interventions targeting anxiety may help improve daily functioning and quality of life in pediatric long COVID patients.

Prevalence of Insulin Resistance and Metabolic Syndrome in Pediatric Patients with Type 1 Diabetes Mellitus and Its Association with Macrovascular Complications

Background Insulin resistance (IR) is an independent risk factor for the development of micro and macrovascular diseases in both type 2 diabetes (T2DM) and type 1 diabetes (T1DM) patients. Objective To assess the frequency of insulin resistance and metabolic syndrome among pediatric patients with T1DM and highlight the factors associated with both. Subjects and Methods Analytical cross-sectional study, including eighty (80) patients with T1DM divided into two equal groups according to body mass index(BMI) (Group1= 40 patients with normal BMI, Group 2= 40 obese or overweight patients). Both groups were subjected to: Detailed history, through clinical examination with special emphasis on assessment of Insulin Resistance and Metabolic Syndrome. Carotid intima media thickness (CMIT) was assessed as a marker of macrovascular complication. Results In group 2, (93%) of participants showed manifestations of metabolic syndrome Also, the same group showed significantly higher HbA1c (P < 0.05) and waist/ hip ratio (P < 0.05). Estimated glucose disposal rate formula (eGDR) (5.49 ± 3.53) were significantly lower in group 2 compared with group 1 (10.51 ± 2.20) (P < 0.05).The best cut-off value of eGDR for prediction of IR among patients with T1DM was < 7.15 mg/kg/min. CIMT was significantly higher in group 2 (0.93 ± 0.13) compared to group 1 (0.66 ± 0.09) (P < 0.05). Furthermore, there was a strong negative correlation between eGDR and CIMT. Conclusion Overweight and obese youth with T1DM had significantly higher prevalence of components of metabolic syndrome including insulin resistance. A specific novel finding of this study is the relationship between eGDR and macrovascular complications.

Histopathological Subtypes of Primary Nephrotic Syndrome in Paediatric Patients at the University Teaching Hospital in Lusaka, Zambia

Background: Minimal change disease (MCD) has been shown to be a common histological presentation in children presenting with nephrotic syndrome (NS) in developed countries. In Africa, information on clinical and histological characteristics of paediatric NS is scarce. This study assessed the characteristics and histological subtypes of NS.
 Methods: This was a prospective study that consecutively indexed children aged 2-16 years with the diagnosis of NS who were referred to the largest tertiary teaching hospital, Lusaka, Zambia. Thirteen children presenting with NS were biopsied under ultrasound guidance after ethical approval. The primary outcome of the study was to describe the histological characteristics of paediatric NS.
 Results: Thirteen children of African descent with a median age of onset of NS of 9.25 years (2.0-15.0) were enrolled in the study. The histopathologic lesions were as follows; four had MCD, four had focal segmental glomerulosclerosis (FSGS), one had immune complex mediated glomerulonephritis (ICMN) and four were inconclusive. Haematuria was present in eight out of 13 patients (61.5%) and hypertension was present in five of 13 patients (38.0%). Three children did not have either haematuria or hypertension. Ten of the 13 participants had primary steroid resistance. 
 Conclusion: This study has demonstrated the need to perform a pre-treatment renal biopsy in paediatric patients presenting with NS in view of the atypical presentation, variable histopathologic findings, and unpredictable response to steroid therapy.

Incidence of Air Leak Syndrome in Pediatric Patients With SARS-COV-2 Pneumonia and Respiratory Failure: A Single-Center Retrospective Study.

Air leak syndrome (ALS) is defined as the extrusion of air from an aerated compartment into an unaerated compartment with associated symptoms of respiratory distress. This syndrome can occur as a consequence of trauma, iatrogenic causes, or spontaneously. Retrospective investigations conducted in the adult population have demonstrated an elevated risk of spontaneous ALS development in patients with coronavirus disease 2019 (COVID-19) pneumonia, along with its correlation with mortality. However, no studies have yet explored this phenomenon within the pediatric population. In light of this knowledge gap, we conducted a retrospective chart review comprising 128 pediatric patients ranging in age from one month to 18 years. The primary objective was to assess the incidence of ALS in two distinct groups: patients diagnosed with COVID-19 pneumonia and those with non-COVID-19 viral pneumonia. The groups were compared using Fisher's exact test for sex, the presence of ALS, the requirement of extracorporeal membrane oxygenation (ECMO), and death. The modified Wald method was used to calculate the 95% confidence interval for the mortality rate in patients with COVID-19 pneumonia in the presence of ALS. Our findings revealed a higher prevalence of ALS in patients with COVID-19 pneumonia compared to the non-COVID-19 viral pneumonia group, with a statistically significant P-value of 0.02 and an odds ratio (OR) of 6.72. In terms of mortality rates, there was a statistically significant difference between the two groups (P = 0.025, OR = 1.083). In addition, in patients with ALS in the presence of COVID-19 pneumonia, the mortality rate was 37.5%. However, the requirement of ECMO was not statistically significant (P = 0.16, OR = 1.04). These results suggest that patients with COVID-19 pneumonia have an increased mortality rate and a heightened risk of developing ALS compared to individuals with other viral pneumonias. Furthermore, the presence of ALS was associated with a high mortality rate in COVID-19 pneumonia patients. However, it is crucial to note that obtaining a larger patient sample and involving multiple institutions would be necessary to obtain more consistent and robust data.

Emapalumab for the treatment of refractory cytokine release syndrome in pediatric patients

Emapalumab for the treatment of refractory cytokine release syndrome in pediatric patients

Pediatric Hodgkin's lymphoma presenting with nephrotic syndrome: a case report

Hodgkin's lymphoma (HL) is a common type of lymphoma in children and adolescents, and it typically presents with lymphadenopathy, fever, and weight loss. Nephrotic syndrome is a rare but reported complication of HL, and it is associated with a poor prognosis. We report a case of a 12-year-old boy who presented with nephrotic syndrome as the initial manifestation of HL. The diagnosis was confirmed by a biopsy of the lymph node, which showed the characteristic Reed-Sternberg cells. The patient was treated with chemotherapy and he achieved complete remission of both HL and nephrotic syndrome. This report aims to raise awareness of the potential association between HL and nephrotic syndrome in pediatric patients, which can aid in early detection and prompt management.

Frequency of tethered cord syndrome in pediatric patients with refractory daytime incontinence.

Frequency of tethered cord syndrome in pediatric patients with refractory daytime incontinence.

An Overview of Short-Bowel Syndrome in Pediatric Patients: Focus on Clinical Management and Prevention of Complications.

Short-bowel syndrome (SBS) in pediatric age is defined as a malabsorptive state, resulting from congenital malformations, significant small intestine surgical resection or disease-associated loss of absorption. SBS is the leading cause of intestinal failure in children and the underlying cause in 50% of patients on home parental nutrition. It is a life-altering and life-threatening disease due to the inability of the residual intestinal function to maintain nutritional homeostasis of protein, fluid, electrolyte or micronutrient without parenteral or enteral supplementation. The use of parenteral nutrition (PN) has improved medical care in SBS, decreasing mortality and improving the overall prognosis. However, the long-term use of PN is associated with the incidence of many complications, including liver disease and catheter-associated malfunction and bloodstream infections (CRBSIs). This manuscript is a narrative review of the current available evidence on the management of SBS in the pediatric population, focusing on prognostic factors and outcome. The literature review showed that in recent years, the standardization of management has demonstrated to improve the quality of life in these complex patients. Moreover, the development of knowledge in clinical practice has led to a reduction in mortality and morbidity. Diagnostic and therapeutic decisions should be made by a multidisciplinary team that includes neonatologists, pediatric surgeons, gastroenterologists, pediatricians, nutritionists and nurses. A significant improvement in prognosis can occur through the careful monitoring of nutritional status, avoiding dependence on PN and favoring an early introduction of enteral nutrition, and through the prevention, diagnosis and aggressive treatment of CRSBIs and SIBO. Multicenter initiatives, such as research consortium or data registries, are mandatory in order to personalize the management of these patients, improve their quality of life and reduce the cost of care.

Predictive Value of Complete Blood Count, Venous Blood Gas Measurements, and Glucose/Potassium Ratio for Delayed Neuropsychiatric Syndrome in Children with Acute Carbon Monoxide Poisoning Due to Coal-Burning Stove.

Delayed neuropsychiatric syndrome may occur after carbon monoxide poisoning has completely healed. The literature on indicators to predict delayed neuropsychiatric syndrome in pediatric patients is limited. The aim of the study is to investigate the effectiveness of complete blood count parameters, neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, systemic immune inflammation index, glucose/potassium ratio, venous blood gas parameters, and carboxyhemoglobin in predicting delayed neuropsychiatric syndrome in children with carbon monoxide poisoning due to coal-burning stove. The patients admitted to the pediatric emergency department with acute carbon monoxide poisoning between 2014 and 2019 were analyzed. The patients were divided into 2 groups as delayed neuropsychiatric syndrome (+) and delayed neuropsychiatric syndrome (-). Neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, systemic immune inflammation index (platelet count×neutrophil count/lymphocyte count), and glucose/ potassium ratio were calculated. Of the 137 patients, 46 were diagnosed with delayed neuropsychiatric syndrome within 1 year of carbon monoxide poisoning. A control group was formed from 137 age- and sexmatched children. Glasgow Coma Scale < 15 was found in 11% of patients with delayed neuropsychiatric syndrome (-) and 8.7% of patients with delayed neuropsychiatric syndrome (+) (P = .773). Blood glucose, potassium, glucose/potassium ratio, platelet/lymphocyte ratio, white blood cell, neutrophil count, lymphocyte count, neutrophil/lymphocyte ratio, systemic immune inflammation index, venous partial pressure of carbon dioxide, carboxyhemoglobin, and methemoglobinemia levels were significantly different between control, delayed neuropsychiatric syndrome (+), and delayed neuropsychiatric syndrome (-) groups (P < .05). The most effective predictors for delayed neuropsychiatric syndrome were systemic immune inflammation index (area under the curve = 0.852; cut-off value > 1120; sensitivity = 89.1%; specificity = 75.8%), neutrophil (area under the curve = 0.841; cut-off value > 8000/mm3; sensitivity = 78.2%; specificity = 79.1%), and neutrophil/lymphocyte ratio (area under the curve = 0.828; cut-off value > 4; sensitivity = 78.2%; specificity = 75.5%). About one-third of children with carbon monoxide poisoning due to coal-burning stove develop delayed neuropsychiatric syndrome. Systemic immune inflammation index, neutrophil count, and neutrophil/lymphocyte ratio obtained immediately after the poisoning in the pediatric emergency department may be effective predictors for delayed neuropsychiatric syndrome.

An interesting manifestation of COVID-19 in children: case report and review on multisystem inflammatory syndrome in pediatric patients

Multisystem inflammatory syndrome in children (MIS-C) associated with COVID-19 or PIMS-TS (pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 infection) has been presenting itself in children in connection to the SARS-CoV-2 infection. Along with a brief review of global data on MIS-C, we present two case reports of critically ill pediatric patients (aged 16 and 14 years), presenting with features of MIS-C from May 2020 to March 2021, to a tertiary-care hospital in Telangana, India. The patients with MIS-C were healthy prior to testing positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Clinical presentations were similar, with fever, abdominal pain, gastrointestinal complaints, or maculopapular rash. The diagnostic parameters revealed elevated levels of C-reactive protein, D-dimer, and NtProBNP. Other infectious aetiologies were ruled out. Both patients required ionotropic support, and intravenous immunoglobulin (IVIG), and were also given empiric antibiotics. Both were hemodynamically stable upon discharge. As knowledge of the various COVID-19 manifestations in children increases, reporting is essential to better-educating healthcare professionals in clarifying and streamlining the variety of symptoms connected to MIS-C and assessing the associated risk factors that predispose the pediatric population to develop severe disease.

A Retrospective Single-center Study of Presentation and Prognosis of Guillain-Barré Syndrome in Pediatric Patients

Background: Guillain-Barré syndrome (GBS) is a post-infectious immune-mediated peripheral neuropathy, progressing bilaterally and often symmetrically and affecting sensory and motor function. Most cases completely recover, but around 20% of cases may lead to complications, incomplete recovery, or even death. Objectives: This study aims to assess the prognosis of GBS in pediatric patients and possible associated conditions regarding recovery or prognosis. Methods: We investigated 71 cases of GBS admitted to Mofid Pediatric Hospital from March 2014 to March 2017. Demographic, clinical, and laboratory data were retrospectively recorded and analyzed. Two follow-up visits were performed after 1 to 3 and 5 to 8 years from onset, according to the GBS Disability Scale, and recovery of motor function was assessed during patients’ visits to the clinic. Results: We found 35 male and 36 female subjects with an average age of 6.17 ± 3.82 (range 0.9 up to 15 years old); cases were mostly presented with myalgia and weakness (78.9%) followed by headache, found in 5 patients (7%). Around 84.5% of patients had an upper respiratory infection as their antecedent infection. Fifteen cases of autonomic dysfunction were observed, and 15 patients had cranial nerve involvement. Most cases had the acute inflammatory demyelinating polyradiculoneuropathy (AIDP) form of GBS on electrophysiologic tests. Analysis showed only axonal involvement was significantly correlated with poor prognosis (P-value

Pharmacological Management of Atypical Hemolytic Uremic Syndrome in Pediatric Patients: Current and Future.

Atypical hemolytic uremic syndrome is a thrombotic microangiopathy characterized by hemolysis, thrombocytopenia, and acute kidney injury, usually caused by alternative complement system overactivation due to pathogenic genetic variants or antibodies to components or regulatory factors in this pathway. Previously, a lack of effective treatment for this condition was associated with mortality, end-stage kidney disease, and the risk of disease recurrence after kidney transplantation. Plasma therapy has been used for atypical hemolytic uremic syndrome treatment with inconsistent results. Complement-blocking treatment changed the outcome and prognosis of patients with atypical hemolytic uremic syndrome. Early administration of eculizumab, a monoclonal C5 antibody, leads to improvements in hematologic, kidney, and systemic manifestations in patients with atypical hemolytic uremic syndrome, even with apparent dialysis dependency. Pre- and post-transplant use of eculizumab is effective in the prevention of atypical hemolytic uremic syndrome recurrence. Evidence on eculizumab use in secondary hemolytic uremic syndrome cases is controversial. Recent data favor the restrictive use of eculizumab in carefully selected atypical hemolytic uremic syndrome cases, but close monitoring for relapse after drug discontinuation is emphasized. Prophylaxis for meningococcal infection is important. The long-acting C5 monoclonal antibody ravulizumab is now approved for atypical hemolytic uremic syndrome treatment, enabling a reduction in the dosing frequency and improving the quality of life in patients with atypical hemolytic uremic syndrome. New strategies for additional and novel complement blockage medications in atypical hemolytic uremic syndrome are under investigation.

Systemic inflammatory response syndrome in pediatric patients undergoing cardiac surgery

Systemic inflammatory response syndrome in pediatric patients undergoing cardiac surgery

Cephalgic Syndrome Correction in Pediatric Patients at the Sanatorium Treatment Stage: a Simple Randomized Prospective Study

INTRODUCTION. Diagnosis and treatment of headache in pediatric patients is of priority medical and social importance, including when correcting it at the sanatorium and health resort stage. Difficulties and problems are associated with the complexity of taking an anamnesis in children, incorrect diagnosis, comorbidity, the need for timely correction of risk factors, and the appointment of the effective pathogenetically proved treatment. AIM. To determine the structure and features of the cephalgic syndrome in pediatric patients undergoing treatment in Evpatoria sanatoriums and to determine the effectiveness of psychological correction in the treatment of patients with frequent tension-type headache by using the method of music therapy method. MATERIAL AND METHODS. As a result of a complex examination of pediatric patients, 150 patients with headache complaints were selected out of 513 examined by the method of simple random sampling. Together with a psychologist, a subgroup of 30 patients with frequent tension headaches was selected from the total number of patients after psychological testing for whom music therapy was included in the treatment plan. RESULTS AND DISCUSSION. In the structure of the cephalgic syndrome the prevalence of tension headache was revealed, while 20% of patients had frequent episodic tension headache against the background of increased anxiety and fatigability, which significantly affects quality of life and social functioning. The patients who underwent correction of tension headaches by music therapy showed improvement of extraversion indices, reduction of neuroticism, decrease of anxiety, fatigability and irritability indices, decrease of frequencyand intensity of headaches. None of the patients were diagnosed with headache according to ICHD-III in the referral diagnosis for sanatorium treatment, but were diagnosed with vegetative-vascular dystonia and other comorbidities. CONCLUSION. The obtained data of a complex examination made it possible to substantiate a pathogenetically differentiated rehabilitation course in sanatorium treatment and led to an increase in the efficiency and quality of treatment for each patient. Using the method of music therapy, emotional and psychological correction was carried out, which occupies an important place in the relief of headache in pediatric patients.

Lemierre's Syndrome in Pediatric Patients: Case Report

Introduction: Lemierre's syndrome is a severe and extremely rare septic thromboembolic event of an infection usually located in the neck and head. It is a rapidly progressive disease that can cause fatal consequences when there is no timely treatment. Clinical Case: A 6-year 5-month old female patient was evaluated due to a clinical picture of a continuous burning pain in the left anterior cervical region of moderate intensity of 3 weeks of evolution that worsens with a sudden mass growth at the mentioned level. Physical examination revealed an asymmetric neck with limited mobility due to the presence of an oval mass of approximately 6 cm in diameter located in the left anterior cervical quadrant. A CT scan showed an invasive process in the left infrahyoid region that is enhanced with the use of intravenous contrast medium, measuring 4.7 cm x 3.8 cm x 4.2 cm, with an approximate volume of 39 ml. In addition, a hypodense image is observed in the left internal jugular vein suggesting thrombosis. Drainage of a cervical abscess is performed, revealing a mass in the left external segment. The result of the study of the collected purulent fluid reports isolation of two types of germs: Bacteroides fragilis and Peptococus species. Considering also the radiological finding of the internal jugular vein thrombosis, anticoagulation with low molecular weight heparins was started. Patient with good evolution of clinical picture. Conclusions: Lemierre's Syndrome is a disease in which early diagnosis and treatment can reduce morbidity and mortality, especially in pediatric patients, where its incidence is extremely rare. However, specific clinical data can guide us to its diagnosis.

Frequency of non-thyroidal illness syndrome in pediatric patients with sepsis and septic shock

BackgroundNon-thyroidal illness syndrome (NTIS) is considered when patients demonstrate altered thyroid hormones and is frequently seen in patients with sepsis and septic shock. Levels keep affected with disease progression and usually get normalized after the sickness is cured. NTIS is not studied well in pediatric population.Aim of the workOur primary outcome was to assess the frequency of hormonal changes of NTIS in sepsis and septic shock patients. The secondary outcome was to follow-up the severity of NTIS and its effect on the prognosis of the primary illness.Patients and methodsThis study (1st phase: cross-sectional, 2nd phase: prospective) included 40 critically ill children categorized into two groups: (i) sepsis group: defined according to standard international criteria using pediatric Sequential Organ Failure Assessment (p SOFA) score and sepsis was considered when p SOFA score > 2; (ii) septic shock group: defined by a vasopressor requirement to maintain a mean arterial pressure ≥ 65 mmHg and having a serum lactate level > 2 mmol/L despite adequate fluid resuscitation, with 20 patients in each group. Patients were admitted to the pediatric intensive care unit (PICU). Thyroid hormone levels were assessed and compared in day 1 and day 5 in all patients and subgroups. All patients were followed up until discharge or death.ResultsNTIS was found in 47.5% of patients. NTIS was higher among septic shock group than sepsis 65.5% versus 30% (p = 0.027). NTIS was associated with each of ventilation, catecholamines infusion and SOFA score (p = 0.044, 0.027, and 0.033) respectively. FT3 (free triiodothyronine) levels were lower and rT3 (reverse T3) levels were higher in day 5 of sickness than day 1 (p = 0.041 and 0.000) respectively. Furthermore, FT3 levels in day 5 were lower, and rT3 levels in day 1 and day 5 were higher in non-survivors than survivors (p = 0.002, 0.015, and 0.003) respectively. ROC curve was done to assess predictors of mortality and revealed that FT3 levels in day 5 was the best in predicting PICU mortality, followed by SOFA score day 5.ConclusionNTIS is common among critically ill children and higher among septic shock group than sepsis. Also, beside the SOFA score, FT3 measured in day 5 of sickness were the best predictors of PICU mortality.

Plasma Microbial Cell-Free DNA to Characterize Infection Vs Cytokine Release Syndrome in Pediatric Patients with B ALL after CAR T Cell Therapy

Introduction Chimeric antigen receptor (CAR) T cell therapy is a promising treatment for pediatric patients with relapsed or refractory B cell acute lymphoblastic leukemia (R/R B ALL). Cytokine release syndrome (CRS) is a common toxicity characterized by fever and hemodynamic instability due to pro-inflammatory cytokines. Patients receiving CAR-T cell therapy are also at high risk of infection. Because both infection and CRS present with fever and signs of inflammation, they can be difficult to distinguish. Karius Inc has developed and validated a novel method for detecting and quantifying microbial cell free DNA (mcfDNA) in plasma for over 1000 species. McfDNA of organisms observed above background at statistically significant levels are reported in molecules per microliter (MPM). This retrospective cohort study sought to describe bacterial Karius Test®(KT) results, concordance with blood culture results, and association with signs of CRS in pediatric patients in the first 2 months after CAR-T cell infusion for R/R B ALL. Methods We identified 27 patients who had received CAR-T cell therapy at Lucile Packard Children's Hospital between November 2017 and March 2021 with banked plasma samples available for KT. Patients received CARs targeting CD19, CD22, or CD19-CD22 bispecific. We performed KT prior to CAR-T infusion, week 1, week 2, week 3 and week 4 or later. KT results were classified as likely pathogenic if MPM was >300 or if the same organism was detected on 2 consecutive tests. Results KT results are summarized in Table 1. Five patients had a least 1 positive blood culture in the 2 months post CAR-T infusion. Two of these patients had concurrent KT results that detected the same organism. Patient 3 experienced coagulase negativeStaphylococcus (CONS) bacteremia on days 0-2 post CAR-T. He was febrile a few hours after CAR-T infusion with no signs of CRS. KT was positive for Staphylococcus epidermidis on day -6 and day +3 after CAR-T infusion at MPM of 104,913 and 17,957, respectively. Patient 20 had grade 3 CRS by day 9 which improved after tocilizumab and steroids. She had recurrence of fevers at Day 24 and was treated with broad spectrum antimicrobials as well as immunosuppressive therapy for CRS. Blood cultures were persistently positive for CONS. She developed severe hyperammonemia at Day 56 with no evidence of hepatic dysfunction and subsequently progressed to cerebral edema and died on day 60 post CAR-T. Mycoplasma hominis was detected by bacterial sequencing on autopsy. KT detected M. hominis at a very low level (MPM 104) on day 21 post CAR-T. Subsequent measurements found increasing MPM for M. hominis at 89,071 on day 52 and then 201,096 on day 57 (Figure 1). Case reports have described M. hominis as a cause of severe hyperammonemia in immunocompromised patients. The 3 remaining patients (Patients 1, 2, and 30) did not have positive KT results for various reasons. Patient 1 experienced Enterococcus faecium bacteremia on day 23 but did not have a banked sample available for KT. This was in the setting of fevers and hypotension after progression of leukemia post CAR-T. Patient 2 had Streptococcus mitis bacteremia on day 11 post CAR-T and was started on cefepime. His KT was positive for Escherichia coli (but not s. mitis) at 11,559 MPM on day 14. He did not have blood cultures drawn that day so it is unclear if this KT result would have been detected on blood culture. Patient 30 had one blood culture positive for CONS. She was briefly treated with cefepime which was discontinued when subsequent cultures were negative. The CONS was thought to be a contaminant. KT was negative. Patients 2 and 30 had blood cultures sent in the setting of persistent fevers with rising inflammatory markers and Grade 1 CRS. Analysis across the cohort suggests KT positivity may correlate with periods of increased inflammation after CAR-T infusion. The relationship between KT positivity, inflammatory laboratory values, elevated temperature, and CRS score will be presented. Conclusions KT results may be helpful in identifying organisms in febrile patients following CAR-T when other diagnostic measures are unrevealing. This is especially true for fastidious organisms that may not grow in blood culture. Increased KT positivity during times of inflammation after CAR-T may reflect low level translocation rather than environmental contaminants. More work is needed to determine how best to use KT clinically in this patient population. Figure 1View largeDownload PPTFigure 1View largeDownload PPT Close modal

Using deep learning and electronic health records to detect Noonan syndrome in pediatric patients

PurposeThe variable expressivity and multisystem features of Noonan syndrome (NS) make it difficult for patients to obtain a timely diagnosis. Genetic testing can confirm a diagnosis, but underdiagnosis is prevalent owing to a lack of recognition and referral for testing. Our study investigated the utility of using electronic health records (EHRs) to identify patients at high risk of NS. MethodsUsing diagnosis texts extracted from Cincinnati Children’s Hospital’s EHR database, we constructed deep learning models from 162 NS cases and 16,200 putative controls. Performance was evaluated on 2 independent test sets, one containing patients with NS who were previously diagnosed and the other containing patients with undiagnosed NS. ResultsOur novel method performed significantly better than the previous method, with the convolutional neural network model achieving the highest area under the precision-recall curve in both test sets (diagnosed: 0.43, undiagnosed: 0.16). ConclusionThe results suggested the validity of using text-based deep learning methods to analyze EHR and showed the value of this approach as a potential tool to identify patients with features of rare diseases. Given the paucity of medical geneticists, this has the potential to reduce disease underdiagnosis by prioritizing patients who will benefit most from a genetics referral.

Anti–glomerular basement membrane disease with rapidly progressive glomerulonephritis and hemorrhagic alveolitis in pediatric patients (reviev of literature)

The article is devoted to controversial issues of autoimmune small vessel vasculitis with kidney and lung damage. Modern data on the features of pathogenesis, clinical manifestation, treatment, outcome, and prognosis of the disease with AT to GBM have presented: an idiopathic disease with AT of class IgG (IgG1 and IgG3) against non-collagen domain-1 (NC1) α3-chain ofcollagen type IV GBM (Goodpasture autoantigen); with the simultaneous increase in AT to GBM and ANCA; "de novo" diseases with AT to the α5(IV) and α3(IV) chains of GBM type IV collagen in renal graft with Alport syndrome in pediatric patients.

Phelan-McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses.

BackgroundPhelanrMcDermid syndrome (PMS) is an uncommon autosomal dominant inherited developmental disorder. The main characteristics are hypotonia, intellectual disability, autism spectrum disorder, autism-like behaviors and tiny facial deformities. Most cases are caused by the deletion of the 22q13 genomic region, including the deletion of SHANK3.MethodsGenetic and phenotype evaluations of ten Chinese pediatric patients were performed. The clinical phenotypes and genetic testing results were collected statistically. We analyzed the deletion of the 22q13 genomic region and small mutations in SHANK3 (GRCh37/hg19) and performed parental genotype verification to determine whether it was related to the parents or was a novel mutation.ResultsThe age of the patients diagnosed with PMS ranged from 0 to 12 years old. Nine of the pediatric patients experienced Intellectual Disability, language motion development delay and hypotonia as prominent clinical features. One subject had autism, two subjects had abnormal electroencephalogram discharge and one subject was aborted after fetal diagnosis. Three patients had a SHANK3 mutation or deletion. All but the aborted fetuses had intellectual disability. Among the ten patients, a deletion in the 22q13 region occurred in seven patients, with the smallest being 60.6 kb and the largest being >5.5 Mb. Three patients had heterozygous mutations in the SHANK3 gene.ConclusionAll ten patients had novel mutations, and three of these were missense or frameshift mutations. For the first time reported, it is predicted that the amino acid termination code may appear before protein synthesis. The novel mutations we discovered provide a reference for clinical research and the diagnosis of PMS.