97 research outputs found
A case of acute post-streptococcal glomerulonephritis that developed posterior reversible encephalopathy syndrome
No full textNonketotic Hyperglycinemia and Acquired Hydrocephalus
No full textNonketotic hyperglycinemia is an autosomal recessive disorder of glycine metabolism. Patients generally present in the neonatal period with lethargy, feeding difficulty, hypotonia, apnea, poorly controlled convulsions, and coma. Myoclonic seizures and burst suppression pattern on electroencephalography are major findings of disease, but development of hydrocephalus is not an expected finding. The present case is that of an infant with acquired hydrocephalus, psychomotor retardation, and myoclonic seizures in whom the final diagnosis was nonketotic hyperglycinemia. (C) 2009 by Elsevier Inc. All rights reserved
Hydrogen sorption and desorption properties of Pd-alloys and steels investigated by electrochemical methods and mass spectrometry
No full textAlthough it has been more than a century since the first known hydrogen embrittlement case was reported, the fundamental question regarding its mechanism is still open to debate. Understanding the hydrogen-metal interactions is of great importance in tailoring microstructures that will have excellent mechanical properties while still resisting hydrogen embrittlement. This is because microstructure and composition affect the thermodynamic and mechanical stability of a material in the presence of hydrogen, as well as the kinetics of processes such as crack propagation, and absorption, desorption and diffusion of hydrogen.So far, thermal desorption spectroscopy has been widely used in investigating hydrogen traps present in alloys. This method is well-established in identifying binding energies of traps with hydrogen. Mechanical testing, on the other hand, provides a direct assessment of embrittlement but cannot determine trap types or the amount of hydrogen in the material. A direct observation of the material can be provided by in-situ TEM, where evidence of the effect of hydrogen on fracture behavior and dislocation pile-ups is given.In order to complement the above-mentioned methods, in this work a non-destructive, fast and easy method is presented that can be used for screening the hydrogen uptake of alloys. An electrochemical method based on cyclic voltammetry (CV) is used to investigate the hydrogen absorption and desorption of different materials. The method is very useful in quantifying small amounts of hydrogen.(OLD) MSE-
A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia
No full textNonconvulsive status epilepticus and neurodevelopmental delay
No full textNonconvulsive status epilepticus is characterized by continuous or near continuous epileptiform discharges on electroencephalography without overt motor or sensory phenomena. It is a symptomatic condition related to a disease such as epileptic encephalopathy or a metabolic disorder. Children with isolated nonconvulsive status epilepticus rarely present with global neurodevelopmental delay. This report describes an 18-month-old male who presented with global neurodevelopmental delay and decreased alertness in whom electrical status epilepticus during sleep, which is a form of nonconvulsive status epilepticus, was determined. Metabolic investigations and cranial magnetic resonance imaging were normal. He began to achieve developmental milestones after treatment with valproic acid. Although rare, pediatric neurologists and pediatricians must be aware of this condition in making the differential diagnosis of global neurodevelopmental delay and decreased alertness. (c) 2006 by Elsevier Inc. All rights reserved
Dentatorubral pallidoluysian atrophy in a Turkish family
No full textDentatorubral pallidoluysian atrophy is a neurodegenerative disease that generally presents in adulthood. Although rare, it can be observed in childhood due to extreme expansion of the triplet repeat size during spermatogenesis. The diagnosis in childhood is very difficult in the absence of family history. Here we describe a 12-year-old girl with dentatorubral pallidoluysian atrophy who presented with progressive myoclonic epilepsy and ataxia. Family history exhibited similarly affected cases on the paternal side. Molecular testing for dentatorubral pallidoluysian atrophy revealed abnormal "cytosine-adenine-guanosine" expansion in the atrophin-1 gene
Basilar artery thrombosis in a child heterozygous for prothrombin gene G20210A mutation
No full textProthrombin G20210A mutation is an important prothrombotic condition for venous thrombosis. Recently, some studies have also considered it to be a risk factor for arterial ischemic stroke in children. A 10-year-old boy with basilar artery thrombosis who was heterozygous for prothrombin G20210A Mutation is described. In concordance with the previous literature, the present case suggests that prothrombin G20210A mutation may be a risk factor for arterial ischemic stroke in childhood
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study
No full textPontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and pons. We aimed to identify the clinical, laboratory, and imaging findings of the patients with diagnosed PCH with confirmed genetic analysis. We collected available clinical data, laboratory, and imaging findings in our retrospective multicenter national study of 64 patients with PCH in Turkey. The genetic analysis included the whole-exome sequencing (WES), targeted next-generation sequencing (NGS), or single gene analysis. Sixty-four patients with PCH were 28 female (43.8%) and 36 (56.3%) male. The patients revealed homozygous mutation in 89.1%, consanguinity in 79.7%, pregnancy at term in 85.2%, microcephaly in 91.3%, psychomotor retardation in 98.4%, abnormal neurological findings in 100%, seizure in 63.8%, normal biochemistry and metabolic investigations in 92.2%, and dysmorphic findings in 51.2%. The missense mutation was found to be the most common variant type in all patients with PCH. It was detected as CLP1 (n = 17) was the most common PCH related gene. The homozygous missense variant c.419G > A (p.Arg140His) was identified in all patients with CLP1. Moreover, all patients showed the same homozygous missense variant c.919G > T (p.A307S) in TSEN54 group (n = 6). In Turkey, CLP1 was identified as the most common causative gene with the identical variant c.419G > A; p.Arg140His. The current study supports that genotype data on PCH leads to phenotypic variability over a wide phenotypic spectrum.Karadeniz Technical UniversityWe would like to thank Sefer Kumandas, Cetin Okuyaz, Ozlem Herguner, Ayse Aksoy and Figen Celep Eyuboglu for their valuable comments
Two Young Sisters with Spinocerebellar Ataxia Type 2 Showing Different Clinical Progression of Disease
No full textSpinocerebellar ataxia type 2 is a neurodegenerative disease caused by a CAG repeat expansion in the ataxin-2 gene. Gain-of-toxic effects caused by expanded polyglutamine tracts are important for the disease pathogenesis and there is an inverse relationship between the number of CAG repeats and the age of onset and clinical severity. Previously, we reported an extended Turkish family with spinocerebellar ataxia type 2 with several affected members in three generations. Two sisters in this generation showed an earlier age of onset (5 and 7years, respectively) than their father (30years). In this paper, we present a further interesting finding regarding the disease onset and manifestation in the two sisters. Interestingly, the age of onset was delayed and the clinical severity of the disease was milder in the child who had more CAG repeats (84 vs. 70). This finding suggests that there are other factors contributing to the age of onset and clinical severity in spinocerebellar ataxia type 2 other than the increased CAG repeat
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