Effects of Vasoactive Drug Use on Hemodynamics in Critical Disease Pediatic Patients

Introduction:The fact that critically ill pediatric patients have hemodynamic and metabolic characteristics different from that in adults plays a key role in the selection of vasoactive agent. The aim of this study was to compare the effects of vasoactive agent and agent groups on hemodynamics in order to effectively regulate impaired hemodynamics in critically ill pediatric patients, to provide early diagnosis, time-sensitive and targeted treatment and reduce side effects. Methods:Disease severity, vital signs, renal function, and laboratory data of 103 patients aged 1 to 18 years, who were treated in the pediatric intensive care unit and administered one or more vasoactive agents, were evaluated.Results:The average Pediatric Risk of Mortality (PRISM III-24) score in the dobutamine group was significantly higher than in the adrenalin-dobutamine group (p=0.048), and no statistically significant difference was observed between the other groups (p>0.05). There was a statistically significant difference in the mean cardıac apex beat between dopamine, dobutamine, dopamine-dobutamine and dopamine-adrenaline groups (p=0.0001, p=0.0001 p=0.007 and p=0.011, reespectively). A statistically significant difference was observed in systolic blood pressure (SAB) between dopamine-dobutamine, dopamine-adrenaline and dopamine-dobutamine-adrenaline groups (p=0.003, p=0.00 and p=0.005, respectively). The S0 lactate levels in the adrenaline group were found to be statistically significantly higher than those in dopamine and adrenaline-dobutamine and dopamine-dobutamine-adrenaline groups (p=0.048, p=0.036 and p=0.045. There was a significant difference in S4 lactate values between dopamine-adrenaline and adrenaline-dobutamine groups and between dobutamine and adrenaline groups (p=0.045 and p=0.047, respectively). There was no statistically significant difference in the average central venous oxygen saturation (ScVO2) between dopamine, dobutamine, dopamine-dobutamine, dopamine-adrenaline, adrenaline-dobutamine, dopamine-dobutamine-adrenaline, dopamine-dobutamine-adrenaline-noradrenaline and adrenaline groups (p>0.05). A statistically significant difference was observed between the mean amounts of urine S0, S24 and S48 in the dobutamine group (p=0.002). The average S0 urine volume in the dobutamine group was found to be statistically significantly lower than the average S24, S48 urine volume (p=0.01 and p=0.03, respectively). No statistically significant difference was observed between the other times and groups (p>0.05).Conclusion:Blood lactate levels were significantly higher in the adrenaline group than in the other groups, while no significant difference was found in cardiac apex beat, SAB, ScVO2 and amount of urine between the groups. This elevation was limited to the first 4 hours, and the use of adrenaline together with dopamine and/or dobutamine significantly reduced the incidence of hyperlactatemia compared to the use of adrenaline alone. The use of dobutamine alone significantly increased the amount of urine within hours

Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation Study

Children with phenylketonuria (PKU) follow a protein restricted diet with negligible amounts of docosahexaenoic acid (DHA). Low DHA intakes might explain subtle neurological deficits in PKU. We studied whether a DHA supply modified plasma DHA and neurological and intellectual functioning in PKU. In a double-blind multicentric trial, 109 PKU patients were randomized to DHA doses from 0 to 7 mg/kg&day for six months. Before and after supplementation, we determined plasma fatty acid concentrations, latencies of visually evoked potentials, fine and gross motor behavior, and IQ. Fatty acid desaturase genotypes were also determined. DHA supplementation increased plasma glycerophospholipid DHA proportional to dose by 0.4% DHA per 1 mg intake/kg bodyweight. Functional outcomes were not associated with DHA status before and after intervention and remained unchanged by supplementation. Genotypes were associated with plasma arachidonic acid levels and, if considered together with the levels of the precursor alpha-linolenic acid, also with DHA. Functional outcomes and supplementation effects were not significantly associated with genotype. DHA intakes up to 7 mg/kg did not improve neurological functions in PKU children. Nervous tissues may be less prone to low DHA levels after infancy, or higher doses might be required to impact neurological functions. In situations of minimal dietary DHA, endogenous synthesis of DHA from alpha-linolenic acid could relevantly contribute to DHA status.This work was supported by the Commission of the European Communities, the Sixth Framework Programme NUTRIMENTHE (Grant Agreement No. 212652). Additional support was provided by Nutricia (Liverpool, UK)

Covid-19 ve Nörolojik Bozukluklar

Dünya Sağlık Örgütü tarafından 11 Mart 2019’da pandemi olarak kabul edilen COVID-19 hastalığının pandeminin ilk döneminde öncelikle solunum yollarını etkileyen ve ciddi akut solunum yetmezliğine (SARS) neden olan bir viral enfeksiyon olduğu kabul edilmiştir. Zaman içinde vasküler sistemler başta olmak üzere diğer organ sistemlerini ve en önemlisi de diğer sistemlerle beraber nörolojik sistemleri ve hatta bazen sadece nörolojik sistemleri etkilediği ortaya konmuştur. Ciddi semptomu olmayan hastalarda bile koku alma kaybı sık olarak görülmekte olup bazı hastalarda ilk veya tek belirti olabilmektedir. Viral enfeksiyonun iyileşmesine rağmen koku alma fonksiyonunun aynı hızla kazanılamaması yaşam kalitesini etkileyen önemli bir nörolojik tutulumdur. Dünyada pandemi sürecinde vaka bildirimleri ve klinik verilerin analizleri ile hızlı bilgi akışı devam etmektedir. Bu yazıda literatür incelemesi ile dünyada bildirilen nörolojik tutulumlar ışığında kranial sinir tutulumları, serebrovasküler hastalıklar ve inme, ansefalit, epilepsi, Guillain Barré sendromu, psikiyatrik bozukluklar ile ilgili güncel bilgilerin paylaşılması amaçlanmıştır

Antinuclear antibody testing in a Turkish pediatrics clinic: is it always necessary?

Introduction: the term anti-nuclear antibody (ANA) is used to define a large group of autoantibodies which specifically bind to nuclear elements. Although healthy individuals may also have ANA positivity, the measurement of ANA is generally used in the diagnosis of autoimmune disorders. However, various studies have shown that ANA testing may be overused, especially in pediatrics clinics. Our aim was to investigate the reasons for antinuclear antibody (ANA) testing in the general pediatrics and pediatric rheumatology clinics of our hospital and to determine whether ANA testing was ordered appropriately by evaluating chief complaints and the ultimate diagnoses of these cases. Methods: the medical records of pediatric patients in whom ANA testing was performed between January 2014 and June 2016 were retrospectively evaluated. Subjects were grouped according to the indication for ANA testing and ANA titers. Results: ANA tests were ordered in a total of 409 patients during the study period, with 113 positive ANA results. The ANA test was ordered mostly due to joint pain (50% of the study population). There was an increased likelihood of autoimmune rheumatic diseases (ARDs) with higher ANA titer. The positive predictive value of an ANA test was 16% for any connective tissue disease and 13% for lupus in the pediatric setting. Conclusion: in the current study, more than one-fourth of the subjects were found to have ANA positivity, while only 15% were ultimately diagnosed with ARDs. Our findings underline the importance of an increased awareness of correct indications for ANA testing

Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population

Glycogen storage diseases (GSDs) are clinically and genetically heterogeneous disorders that disturb glycogen synthesis or utilization. Although it is one of the oldest inherited metabolic disorders, new genetic methods and long-time patient follow-ups provide us with unique insight into the genotype–phenotype correlations. The aim of this study was to share the phenotypic features and molecular diagnostic results that include new pathogenic variants in our GSD cases. Twenty-six GSD patients were evaluated retrospectively. Demographic data, initial laboratory and imaging features, and current findings of the patients were recorded. Molecular analysis results were classified as novel or previously defined variants. Novel variants were analyzed with pathogenicity prediction tools according to American College of Medical Genetics and Genomics (ACGM) criteria. Twelve novel and rare variants in six different genes were associated with the disease. Hearing impairment in two patients with GSD I, early peripheral neuropathy after liver transplantation in one patient with GSD IV, epilepsy and neuromotor retardation in three patients with GSD IXA were determined. We characterized a heterogeneous group of all diagnosed GSDs over a 5-year period in our institution, and identified novel variants and new clinical findings. It is still difficult to establish a genotype–phenotype correlation in GSDs

Çokşeritli Dönel Kavşaklarda Kapasite Analizi: Highway Capacity Manual 2010 Kapasite Modeliyle Bir Değerlendirme

Bu çalışmada, genel kabul görmüş çok şeritli dönel kavşak kapasite hesap yöntemlerinin uygulanabilirliği, yeni Highway Capacity Manual (HCM) 2010 yöntemiyle karşılaştırılmıştır. Yöntemlerden elde edilen sonuçlar, yerel çalışmalardan toplanan verilerin ışığında değerlendirilmiştir. Karşılaştırma için regresyon analiz yöntemini temsilen Transportation Research Laboratory (TRL) formülasyonu, Kritik aralık kabulü yöntemini temsilen Avusturya Hesap Yöntemi seçilmiştir. Bunlara ek olarak, sınırlı öncelik ve ters öncelik koşullarının göz önünde bulundurulduğu kalibre edilmiş kritik aralık yöntemi ve HCM 2010 da yerel uygulamalar için öngörülen kalibre edilmiş formüller ile hesaplamalar yapılmış ve HCM 2010'un olağan değerleriyle karşılaştırılmıştır.Çalışmanın sonucunda elde edilenler, kritik aralık kabul yöntemi ve regresyon yönteminin HCM 2010 olağan değerlerine kıyasla genellikle daha yüksek sonuçlar verdiğini göstermiştir. Yöntemler arasında yapılan regresyon analizleri sonucu, özellikle yüksek dönen akımlar altında kritik aralık kabul yönteminin HCM 2010 yönteminden daha uygun sonuçlar verdiği görülmüştür. Ancak HCM 2010'da yerel uygulamalar için kalibrasyon yapılmasını sağlayan formülasyon sonucunda elde edilenler, olağan formülasyonun verdiği düşük kapasite tahminlerini daha uygun değerlere yükseltmiştir

Evaluation of glycogen storage patients: Report of twelve novel variants and new clinical findings in a Turkish population

© 2021 by the authors. Licensee MDPI, Basel, Switzerland.Glycogen storage diseases (GSDs) are clinically and genetically heterogeneous disorders that disturb glycogen synthesis or utilization. Although it is one of the oldest inherited metabolic disorders, new genetic methods and long-time patient follow-ups provide us with unique insight into the genotype–phenotype correlations. The aim of this study was to share the phenotypic features and molecular diagnostic results that include new pathogenic variants in our GSD cases. Twenty-six GSD patients were evaluated retrospectively. Demographic data, initial laboratory and imaging features, and current findings of the patients were recorded. Molecular analysis results were classified as novel or previously defined variants. Novel variants were analyzed with pathogenicity prediction tools according to American College of Medical Genetics and Genomics (ACGM) criteria. Twelve novel and rare variants in six different genes were associated with the disease. Hearing impairment in two patients with GSD I, early peripheral neuropathy after liver transplantation in one patient with GSD IV, epilepsy and neuromotor retardation in three patients with GSD IXA were determined. We characterized a heterogeneous group of all diagnosed GSDs over a 5-year period in our institution, and identified novel variants and new clinical findings. It is still difficult to establish a genotype–phenotype correlation in GSDs

The correlation between bone biomarkers, glucosylsphingosine levels, and molecular findings in Gaucher type 1 patients under enzyme therapy

Objectives We aimed to determine the relationship of Lyso-Gb1 levels, bone biomarkers, and mutation findings with bone marrow burden (BMB) scores. Methods Lyso-Gb1 and bone biomarkers, and BMB scores of 10 Gaucher type 1 (GD1) patients under enzyme therapy were prospectively evaluated. Results Ten GD1 patients, aged between 4.5 and 40 (mean 23 +/- 11 years), were included in the study. Four patients were homozygous for L444P/L444P, and six patients were compound heterozygous for N370S/R415H. We found positive correlations between pain and BMB scores with Lyso-Gb1 levels (r=0.889, p=0.001 and r=0.701, p=0.035, respectively). There were negative correlations between bone mineral density (BMD) of both the lumbar spine and femoral neck between Lyso-Gb1 levels (r=-0.929, p=0.001 and r=-0.893, p=0.007, respectively). Patients with L444P/L444P mutation had higher Lyso-Gb1 levels and BMB, pain scores and lower BMD measurements than patients with N370S/R415H (p=0.01, p=0.02, p=0.03, p=0.04, p=0.04, respectively). Conclusions There was an apparent correlation between, Lyso-Gb1 levels, BMB scores and genotype in evaluating bone involvement in Gaucher patients

A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case

Biçer Çakır, Nihan (Arel Author)Key Clinical Message We evaluate the clinical findings and the treatment response of a late-diagnosed case with a novel homozygous insertion c.13_14insG (p.P6Afs*202) result in a frameshift mutation in MLYCD gene. Both cardiac and neurologic involvements were mild when compared to previously reported cases, and see low-fat/high-carbohydrate diet treatment is highly effective