Characteristics Of Pediatric Patients Research Articles

Ocular biometric features of pediatric patients with fibroblast growth factor receptor-related syndromic craniosynostosis

Ametropia is reported as a common ophthalmic manifestation in craniosynostosis. We retrospectively compared childhood refractive error and ocular biometric features of fibroblast growth factor receptor (FGFR)-related syndromic craniosynostosis patients with those of non-syndromic craniosynostosis and control subjects. Thirty-six eyes (18 patients) with FGFR-related syndromic craniosynostosis, 76 eyes (38 patients) with non-syndromic craniosynostosis, and 114 eyes (57 patients) of intermittent exotropes were included in the analysis. Mean age at examination was 7.82 ± 2.51 (range, 4–16) years and mean spherical equivalent was -0.09 ± 1.46 Diopter. Mean age and refractive error were not different between groups, but syndromic craniosynostosis patients had significantly longer axial length, lower corneal power, and lower lens power than other groups (p < 0.01, p < 0.01, and p < 0.01, respectively). Axial length was positively correlated and keratometry and lens power were negatively correlated with age in non-syndromic craniosynostosis and controls, while these correlations between age and ocular biometric parameters were not present in the FGFR-related syndromic craniosynostosis. In conclusion, ocular biometric parameters in FGFR-related syndromic craniosynostosis differed from those of non-syndromic craniosynostosis and age-matched controls, and did not show the relations with age, suggesting this cohort may have abnormal refractive growth.

Exome sequencing and electro-clinical features in pediatric patients with very early-onset retinal dystrophies: A cohort study.

Inherited retinal dystrophies (IRDs) are a major cause of childhood blindness. Timely diagnosis requires a high level of clinical suspicion from both neurologists and ophthalmologists and is increasingly important given recent advancements in gene therapy. We focused our study on genotype-phenotype associations in very early-onset forms of retinal dystrophy, the least well characterized and most challenging diagnostic subgroup. From January 12, 2015 to March 31, 2017, we prospectively performed whole exome sequencing targeted on the phenotype of non-syndromic IRDs and phenotype characterization in a cohort of 68 children affected by very early-onset inherited retinal dystrophies, defined by the onset before five years of age. Phenotype parameters included age at onset, clinical presentation, ophthalmic evaluation, electrophysiological patterns and clinical course. A genetically confirmed diagnosis was achieved in 50 out of 60 (83%) families. The median age at onset was 4 months (<6m in 70%, < 2y in 82% of the cases). Clinical presentation was associated with visual loss and nystagmus in the majority of patients. Three (CNGB3, CNGA3 and CACNA1F) out of 22 genes considered pathogenic in the cohort, accounted for 51% of all IRD's, all within the class of stationary IRDs. This study reports on the largest cohort of very early-onset retinal dystrophies, including a description of electroretinography patterns. The electro-clinical phenotype coupled with genetic diagnosis provided additional clues for child neurologists dealing with low vision and nystagmus in infancy. A high level of clinical suspicion improves the diagnosis with important implications for the future of the affected child.

Average volume-assured pressure support vs conventional bilevel pressure support in pediatric nocturnal hypoventilation: a case series.

Average volume-assured pressure support (AVAPS) is a modality of noninvasive ventilation that provides a targeted tidal volume by automatically adjusting the inspiratory pressure support within a set range. Pediatric studies evaluating the efficacy of AVAPS in treating nocturnal hypoventilation are confined to case reports. The aim of this study was to compare AVAPS to conventional bilevel positive airway pressure (BPAP) support in improving hypercarbia in a cohort of pediatric patients with nocturnal hypoventilation. Retrospective review of patient records at an established tertiary pediatric sleep laboratory over a 6-year period. Ventilatory and sleep study parameters from AVAPS and conventional BPAP titration studies were compared. AVAPS was used only if hypoventilation was not controlled using conventional BPAP. Inspiratory pressures, tidal volumes, and adherence were downloaded on final titrated ventilatory settings. Comparisons were made using paired t test. A total of 19 patients (11 boys, 8 girls; median age 10.5 years, range 1 to 20 years) were identified. Diagnoses included neuromuscular disease (n = 9), obstructive hypoventilation (n = 5), parenchymal lung disease (n = 4), and congenital central hypoventilation syndrome (n = 2). AVAPS demonstrated significant improvement in peak (P = .009) and mean (P = .001). Transcutaneous CO₂ parameters compared to conventional bilevel. Oxygenation on AVAPS showed positive trend but did not reach statistical significance. AVAPS delivered higher tidal volumes (P = .04) using similar pressures. There was no statistically significant difference in obstructive apnea-hypopnea index, respiratory arousal index, sleep efficiency, and adherence between AVAPS and conventional BPAP. AVAPS was an effective alternative to conventional BPAP in improving hypercarbia in our selective cohort of pediatric patients. Prospective, longitudinal studies are needed to evaluate the benefits of AVAPS feature in the pediatric population.

Paediatric Agranulocytosis Associated with Metamizole Treatment.

Metamizole, which has antipyretic and pain-relieving properties, is generally used to treat fever in children who do not respond to paracetamol treatment. The most remarkable side effect of metamizole is that it causes myelotoxicity independently of dose. In this study, we aimed to present the clinical features of paediatric patients who developed agranulocytosis after the use of metamizole and draw attention to this side effect. The patients who were admitted to Eskişehir Osmangazi University Faculty of Medicine Hospital, Pediatric Infectious Diseases and Pediatric Hematology Service, between January 1, 2015, and December 31, 2018, with a diagnosis of secondary agranulocytosis to metamizole use were examined retrospectively. In all, 12 patients were included in the study; oral metamizole was used in these patients for fever reduction. The mean absolute neutrophil count was 225/mm3 ± 226 (0-600/mm3) at admission, and the neutrophil value of 11 patients was < 500/mm3. The mean length of hospitalisation of the patients was 9.92 ± 8 (3-28) days. Eight patients received intravenous antibiotic therapy and four patients received at least one of the following treatments: intravenous immunoglobulin, granulocyte colony-stimulating factor and methylprednisolone. Bone marrow aspiration examination showed neutrophil/band maturation delaying in the myeloid series with normocellular bone marrow in three patients. Hypocellularity in the bone marrow and decrease in myeloid precursors were observed in three patients. There were no fatal cases. The development of agranulocytosis after the use of metamizole causes long-term hospitalisation and may require the use of medications in treatment management. Considering the availability of alternative options to treat fever and pain, and given the side-effect profile of metamizole, it should not be the preferred, first-line antipyretic treatment in children.

Children with coronavirus disease 2019: A review of demographic, clinical, laboratory, and imaging features in pediatric patients.

There is a current outbreak of coronavirus disease 2019 (COVID‐19), with a global spread. With the rapid increase in the number of infections, an increase is observed in the number of children with COVID‐19. Most research findings are regarding adult cases, which are not always transferrable to children. Evidence‐based studies are still expected to formulate clinical decisions for pediatric patients. In this review, we included 2597 pediatric patients that reported recently and evaluated the demographic, clinical, laboratory, and imaging features of children with COVID‐19. We found that even lymphopenia was the most common lab finding in adults; it infrequently occurred in children (9.8%). Moreover, elevated creatine kinase MB isoenzyme was much more commonly observed in children (27.0%) than that in adults, suggesting that heart injury would be more likely to occur in pediatric patients. Our analysis may contribute to determine the spectrum of disease in children and to develop strategies to control the disease transmission.

AGA Rapid Recommendations for Gastrointestinal Procedures During the COVID-19 Pandemic

Abbreviations used in this paper AGAAmerican Gastroenterological AssociationCDCCenters for Disease Control and PreventionCIconfidence intervalCOVID-19coronavirus disease 2019GIgastrointestinalGRADEGrading of Recommendations Assessment, Development and EvaluationMERS-CoVMiddle East respiratory syndrome–related coronavirusORodds ratioPAPRpowered air-purifying respiratorPPEpersonal protective equipmentRRrisk ratioSARS-CoV-2severe acute respiratory syndrome coronavirus 2WHOWorld Health Organization

SARS-CoV-2 causing pneumonia-associated respiratory disorder (COVID-19): diagnostic and proposed therapeutic options.

SARS-CoV-2 is responsible for the outbreak of severe respiratory illness (COVID-19) in Wuhan City, China and is now spreading rapidly throughout the world. The prompt outbreak of COVID-19 and its quick spread without any controllable measure defines the severity of the situation. In this crisis, a collective pool of knowledge about the advancement of clinical diagnostic and management for COVID-19 is a prerequisite. Here, we summarize all the available updates on the multidisciplinary approaches for the advancement of diagnosis and proposed therapeutic strategies for COVID-19. Moreover, the review discusses different aspects of the COVID-19, including its epidemiology; incubation period; the general clinical features of patients; the clinical features of intensive care unit (ICU) patients; SARS-CoV-2 infection in the presence of co-morbid diseases and the clinical features of pediatric patients infected with the SARS-CoV-2. Advances in various diagnostic approaches, such as the use of real-time polymerase chain reaction (RT-PCR), chest radiography, and computed tomography (CT) imaging; and other modern diagnostic methods, for this infection have been highlighted. However, due to the unavailability of adequate evidence, presently there are no officially approved drugs or vaccines available against SARS-CoV-2. Additionally, we have discussed various therapeutic strategies for COVID-19 under different categories, like the possible treatment plans with drug (antiviral drugs and anti-cytokines) therapy for disease prevention. Lastly, potentials candidates for the vaccines against SARS-CoV-2 infection have been described. Collectively, the review provides an overview of the SARS-CoV-2 infection outbreak along with the recent advancements and strategies for diagnosis and therapy of COVID-19.

Clinical and CT features in pediatric patients with COVID-19 infection: Different points from adults.

PurposeTo discuss the different characteristics of clinical, laboratory, and chest computed tomography (CT) in pediatric patients from adults with 2019 novel coronavirus (COVID‐19) infection.MethodsThe clinical, laboratory, and chest CT features of 20 pediatric inpatients with COVID‐19 infection confirmed by pharyngeal swab COVID‐19 nucleic acid test were retrospectively analyzed during 23 January and 8 February 2020. The clinical and laboratory information was obtained from inpatient records. All the patients were undergone chest CT in our hospital.ResultsThirteen pediatric patients (13/20, 65%) had an identified history of close contact with COVID‐19 diagnosed family members. Fever (12/20, 60%) and cough (13/20, 65%) were the most common symptoms. For laboratory findings, procalcitonin elevation (16/20, 80%) should be pay attention to, which is not common in adults. Coinfection (8/20, 40%) is common in pediatric patients. A total of 6 patients presented with unilateral pulmonary lesions (6/20, 30%), 10 with bilateral pulmonary lesions (10/20, 50%), and 4 cases showed no abnormality on chest CT (4/20, 20%). Consolidation with surrounding halo sign was observed in 10 patients (10/20, 50%), ground‐glass opacities were observed in 12 patients (12/20, 60%), fine mesh shadow was observed in 4 patients (4/20, 20%), and tiny nodules were observed in 3 patients (3/20, 15%).ConclusionProcalcitonin elevation and consolidation with surrounding halo signs were common in pediatric patients which were different from adults. It is suggested that underlying coinfection may be more common in pediatrics, and the consolidation with surrounding halo sign which is considered as a typical sign in pediatric patients.

Electroencephalographic features in pediatric patients with moyamoya disease in China

BackgroundMoyamoya disease (MMD) is a relatively important and common disease, especially in East Asian children. There are few reports about EEG in children with MMD in China till now. This study is aimed to analyze the electroencephalographic features of MMD in pediatric patients in China preliminarily.MethodsPediatric patients with MMD who were hospitalized in Peking University International Hospital and Beijing Tiantan Hospital from January 2016 to December 2018 were collected. Clinical and electroencephalography (EEG) findings were analyzed retrospectively.ResultsA total of 110 pediatric patients with MMD were involved, and 17 (15.5%) cases had a history of seizure or epilepsy. Ischemic stroke was associated with a 1.62-fold relative risk of seizure. A subset of 15 patients with complete EEG data was identified. Indications for EEG in patients with MMD included limb shaking, unilateral weakness, or generalized convulsion. Abnormal EEG was seen in 14 (93.3%) cases, with the most common findings being focal slowing 12 (80.0%), followed by epileptiform discharge 10 (66.7%), and diffuse slowing 9 (60.0%). “Re-build up” phenomenon on EEG was observed in one patient.ConclusionsSeizure and abnormal background activity or epileptiform discharge on EEG were common in pediatric patients with MMD. EEG may play a role in differential diagnosis among the transient neurological events in MMD such as transient ischemic attack and seizure.

Clinical Features of Children with Polycythemia Vera, Essential Thrombocythemia, and Primary Myelofibrosis in Japan: Retrospective Nationwide Survey

Background: Myeloproliferative neoplasms (MPNs) are clonal hematopoietic disorders characterized by overproduction of differentiated hematopoietic cells. Among MPNs, chronic myeloid leukemia (CML) with BCR-ABL1 is the best studied subtype and is sometimes diagnosed during childhood. "Ph-negative" MPNs are typically found in older adults and are exceedingly rare during childhood. These classical Ph-negative MPNs include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Because of this rarity, clinical features of pediatric MPNs are largely unknown, except for CML. Method: We administered questionnaires to institutions registered with the Japanese Society of Pediatric Hematology/Oncology (JSPHO). We collected clinical information of pediatric and young adult patients aged younger than 30 years who had been diagnosed with Ph-negative MPNs during 2000-2016. This study was conducted as a project of the Leukemia and Lymphoma Committee of the JSPHO. Results: We received responses from 145 institutions, which included all 107 board-certificated educational institutions of the JSPHO. A summary of the clinical features of included patients is shown in Table 1. From 2000 to 2016, 5 patients with PV, 42 with ET, and 2 with PMF were newly diagnosed with Ph-negative MPNs. Among them, 1 patient with PMF was excluded from subsequent analysis because of insufficient clinical information. The male-female ratio was almost balanced. The median age at diagnosis was 14 years for patients with PV, 9 years for patients with ET, and 1 patient with PMF was 10 months old. Only 1 patient with PV had a karyotype abnormality. The median follow-up period was 51 months since diagnosis. The JAK2V617F mutation was screened in almost all patients, and no patients with PV and 9 patients with ET had this mutation. With regard to treatment, 3 of 5 patients with PV received phlebotomy. Among patients with ET, aspirin was used most frequently (21 patients), followed by anagrelide (11 patients). However, 2 patients with PV and 8 patients with ET received no therapeutic approach. With regard to adverse events, hemorrhage and thrombosis were observed in 4 and 3 patients with ET, respectively, but these events were not found in patients with PV or PMF. Transformation to leukemia or myelofibrosis was found in 1 and 1 patient with PV, and 1 and 3 patients with ET, respectively. Among the patients who received no therapeutic approach, only 1 patient with PV experienced a hemorrhagic event and no other patients experienced any adverse events. Only 1 child with PV died owing to subsequent development of myelofibrosis and acute myeloid leukemia approximately 11 years after the initial diagnosis of PV. Conclusion: To the best of our knowledge, this is the first nationally-representative survey to clarify the clinical aspects of pediatric patients with Ph-negative MPNs. Although the methodology was not standardized, the frequency of the JAK2V617F mutation appears to be lower than that previously reported for adult patients. Moreover, the incidence of adverse events, such as thrombosis, hemorrhage, leukemia development, and transformation to myelofibrosis, was much lower than that of adult patients. As a result, although at relatively short durations of follow-up, the prognosis of pediatric patients with Ph-negative MPNs appears to be comparatively good. Further study with genetic analysis is warranted to determine the clinical and genetic features of pediatric patients with Ph-negative MPNs. Disclosures Mitsui: Astellas pharmaceutica: Research Funding; Daiichi Sankyo pharmaceutical: Research Funding; Chugai pharmaceutical: Research Funding; Teijin pharmaceutical: Research Funding; JCR pharmaceutical: Research Funding; Maruho pharmaceutical: Research Funding; MSD pharmaceutical: Research Funding; Shionogi pharmaceutical: Research Funding.

Immunological features in pediatric patients with recurrent and severe infection: Identification of Primary Immunodeficiency Diseases in Merida, Venezuela

Introduction and objectivesPrimary immunodeficiency diseases (PIDs) are disorders associated mainly with recurrent and severe infection and an increase in susceptibility to autoimmune conditions and cancer. In Venezuela, PIDs are underdiagnosed and there is usually a delay in their diagnosis. Hence there are no data concerning the frequency and type of PIDs that occur. The aim of this study was to identify and quantify the types of PIDs that occur in Merida, a population within Venezuela. Patients or materials and methodsFollowing an informative program designed to alert local health professionals to the warning signs for PIDs, patients with a history of recurrent infections were referred to the Instituto de Inmunologia Clinica, Universidad de Los Andes. Results and conclusionsDuring the three-year period January 2014 to January 2017, thirty-two cases of PIDs were identified in pediatric patients, and 17 different types of PIDs, were identified. Predominantly antibody deficiencies were most frequent (40.6%), followed by immunodeficiencies affecting cellular and humoral immunity (21.8%), congenital defects of phagocyte (18.7%), CID with associated or syndromic features (9.3%), defects in intrinsic and innate immunity (6.4%) and diseases of immune dysregulation (3.2%). These results have important implications not only to the future approach for management of patients in our regions, but add important knowledge concerning PIDs in Latin America and worldwide.

Green tea extract catechin improves cardiac function in pediatric cardiomyopathy patients with diastolic dysfunction

BackgroundOur previous studies have demonstrated that Ca2+ desensitizing catechin could correct diastolic dysfunction in experimental animals with restrictive cardiomyopathy. In this study, it is aimed to assess the effects of green tea extract catechin on cardiac function and other clinical features in pediatric patients with cardiomyopathies.MethodsTwelve pediatric cardiomyopathy patients with diastolic dysfunction were enrolled for the study. Echocardiography, ECG, and laboratory tests were performed before and after the catechin administration for 12 months. Comparison has been made in these patients before and after the treatment with catechin. Next Generation Sequencing was conducted to find out the potential causative gene variants in all patients.ResultsA significant decrease of isovolumetric relaxation time (115 ± 46 vs 100 ± 42 ms, P = 0.047 at 6 months; 115 ± 46 vs 94 ± 30 ms, P = 0.033 at 12 months), an increase of left ventricle end diastolic volume (40 ± 28 vs 53 ± 28 ml, P = 0.028 at 6 months; 40 ± 28 vs 48 ± 33 ml, P = 0.011 at 12 months) and stroke volume (25 ± 16 vs 32 ± 17 ml, P = 0.022 at 6 months; 25 ± 16 vs 30 ± 17 ml, P = 0.021 at 12 months) were observed with echocardiography in these patients 6-month after the treatment with catechin. Ejection fraction, left ventricular wall thickness, biatrial dimension remained unchanged. No significant side effects were observed in the patients tested.ConclusionsThis study indicates that Ca2+ desensitizing green tea extract catechin, is helpful in correcting the impaired relaxation in pediatric cardiomyopathy patients with diastolic dysfunction.

Cytoplasmic Fibrillar Aggregates in Gallbladder Epithelium Are a Frequent Mimic of Cystoisospora in Pediatric Cholecystectomy Specimens.

Cystoisospora belli is an intracellular parasite associated with gastrointestinal disease in immunocompromised hosts. Although infection has been classically associated with intestinal disease, studies have identified Cystoisospora in the gallbladder of immunocompetent patients based on hematoxylin-eosin morphology. Recently, the identity of this histologic finding as Cystoisospora has been questioned based on negative results of nucleic acid studies. To determine the prevalence of this histologic feature in pediatric patients, we retrospectively reviewed all cholecystectomy specimens from a pediatric hospital during a 24-month period. In 180 cholecystectomy specimens, we identified 11 cases (6.1%) with classical histologic features previously described to represent Cystoisospora organisms. To further investigate these structures, we retrieved tissue from paraffin-embedded blocks and performed electron microscopy. Ultrastructural examination identified ovoid perinuclear cytoplasmic structures composed of dense fibrillar aggregates rather than organisms. Patients with positive cases were similar in age to controls (positive cases: mean patient age 13.4 years [range, 2-23 years]; negative cases: mean patient age 14.7 years [range, 12 weeks-31 years]; P = .35). There was no significant association of this finding with cholelithiasis (54.5% versus 65.1%, P = .52), cholesterolosis (0% versus 22.5%, P = .12), acute cholecystitis (9.1% versus 10.1%, P > .99), or chronic cholecystitis (45.5% versus 66.3%, P = .20). To our knowledge, this is the first positive identification of these structures as cytoplasmic fibrillar aggregates rather than parasitic inclusions by ultrastructural examination, and the first study of this histologic finding in pediatric cholecystectomies.

Chewing induced reflex seizures (“eating epilepsy”) and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases

PurposeHeterozygous SYNGAP1 gene mutations have been associated with several forms of idiopathic generalized epilepsy, autism spectrum disorders and delay of psychomotor development. We report eight patients with a SYNGAP1 mutation and chewing/eating induced reflex seizures as new phenotype and compare them to other patients with eating epilepsy and genetic mutations. MethodsPresentation of clinical and anamnestic features and retrospective analysis of Video-EEG data of a 4 year old index patient with SYNGAP1 mutation and chewing /eating induced seizures. Clinical and anamnestic features and home videos of seven additional patients (4 female; age: 4–14 years) with SYNGAP1 mutation and eating induced reflex seizures were compared. ResultsAll reflex seizures of the index patient showed similar focal EEG pattern with 1–5 seconds high amplitude, irregular 3/sec spike-wave complexes with initiation from left temporo-occipital, right temporo-occipital or bi- occipital / temporo-occipital regions. Eyelid myoclonia, the most common seizure type in all 8 patients, were typically initiated by eating or other simple orofacial stimuli. In the index patient eye closure preceded eating induced-eyelid myoclonia in 30/38 seizures. ConclusionThe main clinical features of our patient (i.e. intellectual disability, epilepsy, autistic features) are compatible with previous reports on patients with SYNGAP1 mutations. This is the first complete description of eating induced seizures in association with SYNGAP1 mutations. Whether eye closure sensitivity (ECS) represents an independent reflex epileptic trait, as seen in other patients with idiopathic “generalized” epilepsies (IGE), or eye closure is part of a complex trigger mechanism in SYNGAP1 patients’ remains to be elucidated.

Viral Features and Testing for Streptococcal Pharyngitis.

The Infectious Diseases Society of America recommends that clinicians forego testing for group A Streptococcal (GAS) pharyngitis in patients with clinical features of viral illness. The prevalence of viral features in patients tested for GAS pharyngitis is not known. The objectives of this study were as follows: to describe the prevalence of viral features in pediatric patients for whom rapid antigen detection tests (RADTs) for GAS pharyngitis are performed; and to compare the prevalence of GAS and the sensitivity of the RADT in patients with and without viral features. This secondary analysis of data from a prospective cohort study included children aged 3 to 21 years for whom RADTs were performed for sore throat in an urban tertiary care emergency department. The primary outcome was the prevalence of viral features, defined as cough, rhinorrhea, oral ulcers/vesicles, and/or conjunctival injection. Secondary outcomes were the prevalence of GAS and sensitivity of the RADT; these outcomes were compared between patients with and without viral features. Overall, 63% (95% confidence interval [CI]: 57%-68%) of patients had at least 1 viral feature. The prevalence of GAS pharyngitis was higher in patients without viral features (42% [95% CI: 33%-51%]) than in patients with viral features (29% [95% CI: 23%-35%]) (P = .01). The sensitivity of the RADT was 84% (95% CI: 77%-91%) and was not significantly different in patients with and without viral features. Because many asymptomatic children are carriers of GAS, judicious use of laboratory testing for GAS pharyngitis remains an important target for antimicrobial stewardship.

Should Posterior Reversible Encephalopathy Syndrome Be Mainly Considered an Epileptic Disorder? Results of a Sequential Neurophysiological Study in a Pediatric Cohort.

Despite a wide number of studies trying to define clinical, physiopathological, and neuroradiological features of posterior reversible encephalopathy syndrome (PRES), the true nature of symptoms is still not fully understood. We studied a standard cohort of 24 pediatric patients, affected by hemato-oncological diseases, with a neuroradiological diagnosis consistent with PRES identified from 2006 to 2013. Ten of them developed PRES after hematopoietic stem cell transplantation. We analyzed the sequence of clinical, radiological, and electrophysiological data. In all the patients who were recorded at the onset of the first symptoms, electroencephalograms showed focal nonconvulsive seizures or status epilepticus (SE). We found a sensitivity of 100% for electroencephalogram (EEG) with a good correlation between clinical signs and the localization of seizures, whereas computed tomography scans showed a sensitivity of 50% only. Following prompt treatment, intensive care unit admission rate was only 8%. PRES is a multifactorial neurologic event with focal nonconvulsive seizures or SE as the main feature in pediatric patients. Clinical manifestations are epileptic in nature, and prompt EEG recording is useful for diagnosis and supports an earlier treatment, potentially preventing the appearance of complications such as generalized seizures or refractory SE.

&lt;b&gt;一地方都市病院における小児尿酸高値の小児症例の特徴&lt;/b&gt;

小児の血清尿酸値については成長期をまたぐ要素もあるため，正常値を含めていまだ不確定な部分が多い．高値を示す症例は代謝性疾患が有名であるが，それらは頻度的に少ない．一般臨床において頻度的には年齢分布は2相になることが知られており，5歳以下でピークとなる群では急性胃腸炎などの感染症の関与が多いとされている．われわれの施設では比較的高頻度に小児の血清尿酸値が測定（血清クレアチニンサンプル数の65%）されており，9ヶ月間で7.0mg/dl以上を示した28 サンプル28例の患者背景を検討した．ロタウイルス8例を含む急性胃腸炎が17例で，低出生体重児や初期嘔吐など分娩出産時に関わる症例の5例，上気道感染症3例と続いた．これら28例の尿素窒素値/ クレアチニン値比（BUN/Cr）と血清尿酸値との間には相関関係は認められなかった．

ANESTHETIC MANAGEMENT OF ENDOSCOPIC ENDONASAL SURGERIES IN PEDIATRIC ONCOLOGY

Treatment of children with tumors of the nasal cavity and the base of the skull is an urgent issue in both surgery and anesthesiology. First of all, it is related to the anatomical and physiological characteristics of children, as well as to the localisation of tumors in the anatomical zone surrounded by important anatomical structures (internal carotid arteries and their branches, cavernous sinus, orbit). Currently, such tumors are removed by the endoscopic endonasal method. Considering anesthetic support of such surgeries, the issues of upper respiratory tract protection, correction of systemic hemostasis disorders, adequate analgesia, prevention of postoperative complications (postoperative nausea and vomiting, postoperative cognitive dysfunction (delirium), delayed bleeding) are the most importrant. Adequate anesthetic support in pediatric ENT surgery is the most important factor determining the patient’s safety and psychophysiological comfort, improving the quality of treatment and hospitalization. Materials and methods . From July 2016 to March 2017 27 endoscopic endonasal surgeries were performed. The age of patients was from 39 days to 17 years, the median age was 6.6 years. Types of surgeries: 18 out of 27 (66.7%) cases — resection of the tumor, 9 out of 27 (33.3%) — biopsy. Multicomponent anesthesia was conducted according to the protocol presented. The parameters of hemodynamics, the incidence of complications in the perioperative and postoperative periods were recorded. Results . Hemodynamically stable course of anesthesia without significant fluctuations in mean arterial pressure and heart rates was noted at all the stages of surgeries. The terms of observation of patients after surgery in the intensive care ward — from 1 to 3 days, median — 1.2 days. There were no cases of delayed postoperative hemorrhage. Episodes of excitement, postoperative delirium were registered in 4 (14.8%) cases. Postoperative nausea and vomiting were observed in 3 (11.1%) cases. Conclusion . The anatomical and physiological features of pediatric patients determine the tactics of anesthesia, and only taking into account these features, it is possible to achieve patient’s safety during the perioperative and postoperative periods, to improve the quality of treatment and to shorten the periods of hospitalization.

Can Latent Class Analysis Be Used to Improve the Diagnostic Process in Pediatric Patients with Chronic Ataxia?

Chronic ataxia is a relatively common symptom in children. There are numerous causes of chronic ataxia, making it difficult to derive a diagnosis in a timely manner. We hypothesized that the efficiency of the diagnostic process can be improved with systematic analysis of clinical features in pediatric patients with chronic ataxia. Our aim was to improve the efficiency of the diagnostic process in pediatric patients with chronic ataxia. A cohort of 184 patients, aged 0-16years with chronic ataxia who received medical care at Winnipeg Children's Hospital during 1991-2008, was ascertained retrospectively from several hospital databases. Clinical details were extracted from hospital charts. The data were compared among the more common diseases using univariate analysis to identify pertinent clinical features that could potentially improve the efficiency of the diagnostic process. Latent class analysis was then conducted to detect unique patterns of clinical features and to determine whether these patterns could be associated with chronic ataxia diagnoses. Two models each with three classes were chosen based on statistical criteria and clinical knowledge for best fit. Each class represented a specific pattern of presenting symptoms or other clinical features. The three classes corresponded to a plausible and shorter list of possible diagnoses. For example, developmental delay and hypotonia correlated best with Angelman syndrome. Specific patterns of presenting symptoms or other clinical features can potentially aid in the initial assessment and diagnosis of pediatric patients with chronic ataxia. This will likely improve the efficiency of the diagnostic process.

Corpus callosum abnormalities: neuroradiological and clinical correlations.

To study neuroradiological features in pediatric patients with corpus callosum abnormalities, using new functional subtyping for the corpus callosum, and to correlate the features with the clinical presentation. We performed a retrospective review of 125 patients with radiologically identified abnormalities of the corpus callosum seen between 1999 and 2012. The study reviewed clinical features, genetic etiology, and chromosomal microarray (CMA) results. We used a new functional classification for callosal abnormalities based on embryological and anatomical correlations with four classes: complete agenesis, anterior agenesis (rostrum, genu, body), posterior agenesis (isthmus, splenium), and complete hypoplasia (thinning). We also studied the presence of extracallosal abnormalities. The new functional callosal subtyping did not reveal significant differences between the various subtypes in association with neurological outcome; however, the presence of cardiac disease was found more frequently in the group with complete agenesis. Thirty-seven per cent (46/125) had identifiable causes: of these, 48% (22/46) had a monogenic disorder, 30% (14/46) had a pathogenic chromosomal copy-number variant detected by CMA or karyotype, and 22% (10/46) had a recognizable clinical syndrome for which no confirmatory genetic test was available (namely Aicardi syndrome/septo-optic dysplasia and Goldenhar syndrome). The diagnostic yield for a significant CMA change was 19%. The presence of Probst bundles was found to be associated with a better neurodevelopmental outcome. The functional classification system alone 'without clinical data' cannot predict the functional outcome. The presence of extracallosal brain abnormalities and an underlying genetic diagnosis predicted a worse neurodevelopmental outcome. This study highlights the importance of CMA testing and cardiac evaluation as part of a routine screen.