Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

Glutaric aciduria Type I (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolites glutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tissues, particularly within the brain. Here we presented a 3-year-old girl with hypotonia and dystonia diagnosed with GA-I although the repeated analysis of the carnitine profile and organic acid analyses were normal. The patient has motor, mental retardation, hypotonia. Her weight standard deviation score (SDS) was -1.86 SDS, height SDS was -0.55 SDS, head circumference SDS was -1.01. The physical examination was normal except severe hypotonia. Spot blood carnitine profile, blood amino acid, urine organic acid, lactic acid and pyruvic acid were normal in repeated analysis. Dystonia and spastic tetraparesis developed on her follow-up. Cranial magnetic resonance imaging revealed bilateral cortical atrophy and bilateral striatal and caudate nucleus T2 flair hyperintensities. In GCDH gene analysis p.Y123C (c.368A>G)/p.L340F (c.368A>G) mutation was found. There was no history of encephalopathy. The patient treated with levodopa and trihexyphenidyl and lysine-restricted diet. In the presence of bilateral striatal involvement and cortical atrophy and dystonia, GA-I should be kept in mind. Blood carnitine profile and urine organic acid analyses may not be consistent. It is important to evaluate the cases for genetic investigation

Postmortem Yaygın Alveol Hasarı Tespit Edilen Çocuklarda Klinik-Patolojik Korelasyon

Diffuse alveolar damage (DAD) is the distruption of alveolar barriers and gas exchange due to overactive pulmonary inflammation. Pathological examination of acute respiratory distress syndrome (ARDS) patients reveals diffuse alveolar damage. Diagnosis of ARDS is based on clinical consensus established in 1994 AECC criteria and revised in 2012 Berlin criteria. To study the correlation between these clinical criteria and severity of pathological findings, patients with diffuse alveolar damage in postmortem histological examination were evaluated. The study included 20 patients who were histologically diagnosed (postmortem) as diffuse alveolar damage in Hacettepe University Ihsan Dogramaci Hospital. ARDS criteria and other clinical parameters were noted. Pulmonary tissues were evaluated for DAD findings; hyalen membranes, type 1 alveolar cell necrosis, endothelial cell necrosis, inflammation, edema, type 2 alveolar cell proliferation and fibrosis. Severity of DAD was graded. Fibrosis was not present in any sample, inflammation (infection) markers were common. Patients were classified according to fulfilment of clinical criteria and severity of pathological findings (mild-medium severity vs high severity). 55% of patients met 1994 AECC criteria, whereas only 41% met 2012 Berlin criteria. Evaluation of alveolar damage revealed that clinical criteria could not foresee pathological severity. Clinical parameters, scores, PaO2/FiO2 ratio (one of the clinical criteria) have not been statistically correlated with pathological severity. Oxygenation index, based on mean pressure and FiO2 needed for oxygen consumption, seems to be higher in patients who meet clinical ARDS criteria than who do not, and higher in patients who have more severe DAD than milder DAD. Oxygenation index, alongside clinical criteria, may be a valuable tool in predicting pulmonary damage severity.Yaygın alveol hasarı, akciğerde abartılı inflamatuar yanıta bağlı olarak alveol bariyerlerinin zedelenmesi ve gaz alışverişinin bozulmasıdır. Akut respiratuar distres sendromu (ARDS) hastalarının akciğer incelemelerinde yaygın alveol hasarı beklenir. ARDS tanısı için 1994 yılında AECC kriterleri oluştulmuş, 2012 yılında Berlin'de tekrar düzenlenmiştir. Bu kriterlerin patolojik bulgularla ne derece uyumlu olduğunu araştırmak amacıyla; 2000-2011 yılları arasında Hacettepe Üniversitesi İhsan Doğramacı Hastanesi'nde postmortem akciğer incelemesinde yaygın alveol hasarı tespit edilen 20 hasta değerlendirildi. Hastaların ARDS tanı kriterleri için gereken bilgilerininin yanında, retrospektif olarak klinik parametreleri kaydedildi. Akciğer örnekleri, yaygın alveol hasarını gösteren hyalen membran, alveoler tip 1 hücre nekrozu, endotel hücre nekrozu, inflamasyon, ödem, alveoler tip 2 hücre proliferasyonu ve fibrozis açısından değerlendirildi ve ağırlığı derecelendirildi. Örneklerin hiçbirinde fibrozis saptanmadı, inflamasyon (enfeksiyon) bulguları yaygındı. Hastalar; ARDS klinik kriterlerini karşılayanlar ve karşılamayanlar, patolojik bulgularına gore hafif-orta alveol hasarı olanlar ve ağır alveol hasarı olanlar olarak gruplandırılarak karşılaştırıldı. Hastaların %55'inin tüm AECC kriterlerini karşıladığı, sadece %41'inin ise mekanik ventilatör parametrelerini de içeren 2012 Berlin kriterlerini karşılayabildiği tespit edildi. Klinik kriterlerin, akciğer hasarlanmasının ağırlığını öngöremediği görüldü. Klinik parametreler, skorlamalar ve tanı kriterlerinden PaO2/FiO2 oranının; patolojik ağırlıkla istatistiksel olarak anlamlı bir ilişkisi bulunmadı. Oksijenin kullanımı için gereken ortalama basınç ve FiO2'yi esas alan oksijenizasyon indeksi; klinik ARDS tanısı alanlarda almayanlardan, akciğer hasarlanması ağır olanlarda hafif-orta olanlardan daha yüksek bulundu. Akciğer hasarının öngörülmesinde oksijenizasyon indeksinin mevcut klinik kriterlerle birlikte kullanılması değerli bir parametre olarak ortaya çıkmıştır

Parental Perception and Child's Nutritional Status

Childhood obesity is a health hazard increasing worldwide. Preschool period which is under supervision of parents is a critical period to detect overweight and take precautions. We studied the factors affecting parental estimation of their preschool child's weight. Three hundred sixty seven mothers completed questionnaires consisting of child's and parents' anthropometric measurements, parents' assessment of their child's and their own weight status, and general information about their lifestyle. Mothers also chose their wish for current and future body image of their child from child drawings representing percentiles. Child body mass index-for-age z score (BAZ) was related to birth weight and child's appetite. BAZ was not related to child's gender, presence of chronic disease, family pattern, parental age, education or income. 43.1 % of mothers correctly assessed child's BAZ verbally. Maternal verbal estimation was correlated with maternal visual estimation, paternal verbal estimation and child's BAZ. Mothers' wish for future figure of the child was not related to child's BAZ, but showed correlation with mothers' wish for current figure of the child. Mother's correct perception of her child's weight was found to be high, consistent with her spouse and related to child's BAZ.WoSScopu

Molecular modeling study on the water-electrode surface interaction in hydrovoltaic energy

Abstract The global energy problem caused by the decrease in fossil fuel sources, which have negative effects on human health and the environment, has made it necessary to research alternative energy sources. Renewable energy sources are more advantageous than fossil fuels because they are unlimited in quantity, do not cause great harm to the environment, are safe, and create economic value by reducing foreign dependency because they are obtained from natural resources. With nanotechnology, which enables the development of different technologies to meet energy needs, low-cost and environmentally friendly systems with high energy conversion efficiency are developed. Renewable energy production studies have focused on the development of hydrovoltaic technologies, in which electrical energy is produced by making use of the evaporation of natural water, which is the most abundant in the world. By using nanomaterials such as graphene, carbon nanoparticles, carbon nanotubes, and conductive polymers, hydrovoltaic technology provides systems with high energy conversion performance and low cost, which can directly convert the thermal energy resulting from the evaporation of water into electrical energy. The effect of the presence of water on the generation of energy via the interactions between the ion(s) and the liquid–solid surface can be enlightened by the mechanism of the hydovoltaic effect. Here, we simply try to get some tricky information underlying the hydrovoltaic effect by using DFT/B3LYP/6-311G(d, p) computations. Namely, the physicochemical and electronic properties of the graphene surface with a water molecule were investigated, and how/how much these quantities (or parameters) changed in case of the water molecule contained an equal number of charges were analyzed. In these computations, an excess of both positive charge and negative charge, and also a neutral environment was considered by using the Na+, Cl−, and NaCl salt, respectively

The Evaluation of Paraspinal Markers in the Numbering of the Lumbosacral Transitional Vertebrae

Amaç: Lumbosakral geçiş vertebra (GV) yaygın bir konjenital anomali olup kronik bel ağrısı ile ilişkili olduğu bilinmektedir. Bu çalışmanın amacı bilgisayarlı tomografi (BT) görüntülerde lumbosakral GV’nin doğru numaralandırılmasında çölyak arter (ÇA), süperior mezenterik arter (SMA), sağ renal arter (SRA) orijinleri, abdominal aort bifurkasyonu (AAB) ve iliolumbar ligament (İL) gibi paraspinal belirteçlerin değerini ortaya koymaktır. Gereç ve Yöntem: Ocak 2015 ile Aralık 2017 tarihleri arasında tüm vücut BT görüntülemesi yapılan 18-65 yaşları arasındaki olgular retrospektif olarak değerlendirildi. Bulgular: Çalışmaya 380 olgu (yaş, 53,4±10,8 yıl; 164 kadın ve 216 erkek) dahil edildi, 51 olguda (%13,4) GV vardı. Normal spinal segmentasyonlu ve GV’li olgular arasında ÇA, SMA, SRA orijini, AAB ve İL düzeyleri açısından anlamlı farklılık saptandı (p<0,001). Sonuç: Normal spinal segmentasyonlu ve GV’li bireyler arasında ÇA, SMA, SRA orijinleri, AAB ve İL düzeylerinin lokalizasyonu açısından anlamlı farklar vardır. Dolayısıyla, bu belirteçlerin kullanımı, vertebral numaralandırmanın belirlenmesinde yanlışlıklara neden olabilir.Objective: Lumbosacral transitional vertebrae (TV) are a common congenital anomaly and known to be associated with chronic low back pain. The purpose of this study is to reveal the value of the paraspinal markers such as celiac artery (CA), superior mesenteric artery (SMA), right renal artery (RRA) origins, abdominal aorta bifurcation (AAB), and iliolumbar ligament (IL) in the correct numbering of lumbosacral TV on computed tomography (CT) imaging. Materials and Methods: The cases with aged from 18-65 years who underwent the whole-body CT imaging between the dates January 2015 and December 2017 were assessed retrospectively. Results: Of the 380 cases (age 53.4±10.8 years; 164 women and 216 men) included in the study, 51 (13.4%) had TV. A significant difference was determined in terms of the level of CA, SMA, RRA origin, AAB, and IL between the cases with TV and normal spinal segmentation (p<0.001). Conclusion: There are significant differences in terms of the localization of the CA, SMA, RRA origins, AAB, and IL levels between the subjects with normal spinal segmentation and TV. Therefore, the use of these marks may result in inaccuracy of the vertebral numbering

A Turkish Bcs1L Mutation Causes Gracile-Like Disorder

A full-term growth-restricted female newborn (1790 g), presented with lactic acidosis (12.5 mmol/L) after birth. She had renal tubulopathy, cholestasis and elevated serum ferritin concentration (2819 ng/ml). Two similarly affected sisters had died before 3 months of age. Mitochondrial disorder was suspected since the disease resembled the Finnish GRACILE syndrome, caused by a homozygous mutation (c.232A>G) in BCS1L. Thus, we sequenced the BCS1L gene, encoding the assembly factor for respiratory chain complex III. The patient had a homozygous mutation (c. 296C>T; p.P99L), for which both parents were heterozygous. In four previously published patients of Turkish origin, the same homozygous mutation resulted in complex III deficiency, tubulopathy, encephalopathy, and liver failure. The p.P99L mutation seems to be specific to Turkish population and leads to GRACILE-like or Leigh-like condition. Assembly defects in complex III should be investigated in the affected tissues, since fibroblasts may not exhibit the deficiency.WoSScopu

Benign epilepsy with centrotemporal spikes: Is there a thalamocortical network dysfunction present?

Introduction: Benign epilepsy of childhood with centrotemporal spikes (BECTS) is one of the most frequently seen epileptic syndromes in childhood. It is characterized by centrotemporal spikes (CTS) on electroencephalography (EEG) that are typically activated by drowsiness and stage N2 sleep. The location, frequency, and amplitude of the spikes may vary in different EEG records of the same patient, supporting the presence of a global pathology rather than a focal one. Despite the well-known relation between BECTS and stage N2 sleep, the results of sleep studies have been diverse and have mainly focused on sleep cycles. The characteristics of sleep spindles in the interictal periods have not been studied well. Methods: A retrospective study involving patients with BECTS who were admitted to the Gazi University, Faculty of Medicine, Department of Pediatric Neurology from January 2017 to October 2018 was conducted herein. Patients with BECTS and age-matched controls who had stage N2 sleep records of 10 min were enrolled for spindle amplitude (peak-to-peak difference in spindle voltage), frequency (number of waveforms per second), and duration and density (number of spindle bursts/minute of stage N2 sleep). Results: A total of 30 children with BECTS and 20 age-matched healthy peers were enrolled in the study. There were no significant differences between the age and sex of the patients. Statistically significant lower mean values of the amplitude, and duration and density of the spindle activity were observed in patients with BECTS when compared to the controls (P: 0.034, P: 0.016, and 0.020, respectively). Additionally, the risk of epilepsy was found to increase by 1.9 %, by the decrease of the mean amplitude of the spindles by 1 mV when compared to control group. Conclusion: The interictal records of stage N2 sleep differed in the patients with BECTS when compared to the controls. Findings related to the stage N2 sleep of the present study may suggest a network problem involving the thalamus and thalamocortical pathways in patients with BECTS

Trends in the choice of antiseizure medications in juvenile myoclonic epilepsy: A retrospective multi-center study from Turkey between 2010 and 2020

Purpose:Valproic acid (VPA) is frequently used and effective in juvenile myoclonic epilepsy (JME). Recently, levetiracetam (LEV) has been suggested as a monotherapy in JME. This study aimed to evaluate antiseizure medication (ASM) use in patients with JME. Methods: Treatment choices in a total of 257 patients (age range 8–18 years, 152 girls, 105 boys) with JME diagnosed and treated between 2010 and 2020 were evaluated retrospectively. Seizure remission was defined as complete seizure control for at least 12 months. Results: Across the study period and entire patient group, VPA was most commonly chosen as the initial ASM (50.9%), followed by LEV (44.4%), and lamotrigine (4.7%). VPA was also the most frequent first choice in the subgroup of boys (73.3%), while LEV was the commonest first choice in girls (57.9%). The sex difference regarding the ASM of the first choice was statistically significant (p<0.001). While VPA was the most frequent initial ASM in the first 5 years of the study period (2010–2015,n = 66, 64%), LEV had taken over as the most popular first ASM in the last 5 years (n = 83, 53.9%, p = 0.005). The most frequent reasons for discontinuation were inefficacy for LEV and adverse effects for VPA (p = 0.001). During follow-up, 237 patients (92.2%) were seizure-free for at least 12 months, and 159 (61.9%) were also in electrographic remission. Seizure remission occurred earlier than electroencephalographic remission (p<0.001). Conclusion: This study revealed that LEV has become the most frequently chosen initial ASM in the treatment of JME. Although LEV appears to have a better adverse effect profile, VPA seems more likely to be effective in achieving seizure control