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Öğe Brainstem involvement in subacute sclerosing panencephalitis(Turkish J Pediatrics, 2010) Yaramis, Ahmet; Taskesen, MustafaSubacute sclerosing panencephalitis (SSPE), which usually develops 2-10 years after measles infection, is a progressive neurologic disorder with an insidious onset. The neurologic dysfunctions associated with SSPE include generalized myoclonic jerks and seizure activity, and progression of the disease usually results in coma and death within one to two years after onset. Most of the cerebral lesions in SSPE are observed in the periventricular and subcortical white matter. Brainstem involvement in SSPE is very rare. In this paper, we report two cases with brainstem involvement in SSPE that was accompanied by other intracranial lesions with magnetic resonance imaging (MRI). These two patients died in a short time. Thus, brainstem involvement should be considered in patients with SSPE.Öğe Cerebral vasculitis and obsessive-compulsive disorder following varicella. infection in childhood(Turkish J Pediatrics, 2009) Yaramis, Ahmet; Herguener, Sabri; Kara, Buelent; Tatli, Burak; Tuezuen, Uemran; Oezmen, MeralYaramis A, Herguner S, Kara B, Tatli B, Tuzun O, Ozmen M. Cerebral vasculitis and obsessive-compulsive disorder following varicella infection in childhood. Turk J Pediatr 2009; 51: 72-75. Varicella is largely a childhood disease, with more than 90% of cases occurring in children younger than 10 years. The primary infection is characterized by generalized vesicular dermal exanthemas, which are extremely contagious. Secondary bacterial infection and varicella pneumonia, usually seen in the immunocompromised or adult populations, may have high morbidity and mortality. Varicella in childhood is a generally benign and self-limited disorder; however, severe, life-threatening neurological complications may occur. We report a previously healthy eight-year-old boy who presented with acute hemiplegia and obsessive-compulsive disorder secondary to a lesion in lentiform nuclei associated with a history of recent varicella infection. The child was treated with sertraline for obsessive-compulsive disorder symptoms and made a full recovery.Öğe Chest computerized tomography scan findings in 74 children with tuberculous meningitis in southeastern Turkey(Turkish J Pediatrics, 2007) Yaramis, Ahmet; Buekte, Yasar; Katar, Selahattin; Oezbek, M. NuriThis prospective study was done over seven years from 1996 to 2003 to investigate the chest computed tomography scan findings along with other radiologic examinations that included chest roentgenography and cranial computed tomography in children with tuberculous meningitis (TBM). Chest roentgenography demonstrated abnormal findings in 32 cases (43%) (hilar adenopathy, 32%; miliary pattern, 18%; bronchopneumonic infiltrate, 24%), while chest computerized tomography was abnormal in 65 cases (88%; p<0.005): mediastinal and hilar lymphadenopathy were present in 46% (p<0.005); miliary pattern, in 23% (p<0.05); and bronchopneumonic infiltrate, in 23% (p<0.05). Cranial computerized tomography was abnormal in 68 cases (92%). Chest computerized tomography scan helps establish the diagnosis of TBM when chest radiography is normal or inconclusive, and it is useful in assessing children with suspected TBM.Öğe Cranial magnetic resonance imaging findings of nutritional Vitamin B12 deficiency in 15 hypotonic infants(Elsevier Sci Ltd, 2012) Taskesen, Mustafa; Yaramis, Ahmet; Pirinccioglu, Ayfer Gozu; Ekici, FaysalBackground: Nutritional vitamin B-12 deficieny is common among infants in the developing and underdeveloped countries. There is limited information concerning neuroimaging findings in infants with vitamin B-12 deficiency in the literature. Aims: The aim of this study is to evaluate the cranial magnetic resonance imaging (MRI) changes and clinical characteristics of hypotonic infants due to vitamin B-12 deficiency. Materials and methods: A total of 15 infants with neuroradiologic investigations were diagnosed with nutritional B-12 vitamin deficiency. Cranial MRI was performed on all infants. Results: Five infants were female (33%) and the mean age of infants was 12.3 +/- 5.5 months. Hypotonia and neurodevelopmental retardation were present in all patients. MRI demonstrated thinning of the corpus callosum in 6 (40%), cortical atrophy in 5 (33.3%), large sylvian fissures in 5 (33.3%), ventricular dilatation in 3 (20%), asymetric large lateral ventricle in 2 (13.3%) and delayed in myelination in 2(13.3%) patients. Four infants had normal MRI findings. Conclusion: Because of the importance of vitamin B-12 in the development of the brain, MRI findings may be detected and useful in infants with vitamin B-12 deficiency. (C) 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.Öğe Early onset multipl sclerosis(Aves, 2006) Kara, Bulent; Aydin, Kubilay; Tatli, Burak; Yaramis, Ahmet; Yilmaz, Ceren; Aydinli, Nur; Caliskan, MineMultipl sclerosis is a chronic disease of the central nervous system, characterized by discrete areas of demyelination and axon injury. The occurrence of multipl sclerosis in children younger than 16 years has been found to between 2-5%. The incidence of posterior fossa plaques and tumefactive lesions were higher in children. A fourteen-year old boy who had a history of acute disseminhated encsephalomyelitis one year before and demosttrated tumefactive plaques confused with tumor or abscess, in the second attack was diagnosed as multipl sclerosis. Current knowledge of the diagnosis, differential diagnosis and therapy of multipl sclerosis are discussed.Öğe Neurological presentations of nutritional vitamin B12 deficiency in 42 breastfed infants in Southeast Turkey(Tubitak Scientific & Technological Research Council Turkey, 2011) Taskesen, Mustafa; Yaramis, Ahmet; Katar, Selahattin; Gozu, Ayfer; Pirinccioglu, Ayfer Gozu; Soker, MuratAim: Nutritional vitamin B12 deficiency is common in developing and underdeveloped countries and has a wide variety of neurological presentations. The aim of this study was to evaluate the neurological characteristics and laboratory results of infants with vitamin B12 deficiency. Materials and methods: A total of 42 infants were included in this study. All patients were evaluated for clinical, physical, and neurological abnormalities, and an attempt was made to obtain short-term neurologic follow-up. Results: Of 42 patients, 24 (57%) were boys and 18 (43%) were girls. The average age at diagnosis was 13.04 +/- 5.68 months. Most of these infants were breastfed only and born from mothers with inadequate animal-derived protein consumption. Hypotonia (100%), anorexia (92.8%), neurodevelopmental (85.7%), and social (80.9%) retardation were the most present symptoms in all infants. Conclusion: Severe neurological and hematological findings may be found in children with vitamin B12 deficiency. Early diagnosis and treatment is crucial in cases of hematological complications and neurologic impairment. Neurologic impairment may be irreversible if the diagnosis is delayed beyond 12 months. We think that dietary management, such as nutritional support with vitamin B12 for the mothers during pregnancy and complementary food for infants, may prevent the neurological deficits and neurodevelopmental retardation.Öğe Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing(Nature Publishing Group, 2016) Kancheva, Daliya; Atkinson, Derek; De Rijk, Peter; Zimon, Magdalena; Chamova, Teodora; Mitev, Vanyo; Yaramis, AhmetPurpose: Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are identical by descent. Constant developments in next-generation sequencing created possibilities to combine whole-exome sequencing (WES) and homozygosity Mapping in a single step. Methods: Basic optimization of homozygosity mapping parameters was performed in a group of families with autosomal-recessive (AR) mutations for which both single-nucleotide polymorphism (SNP) array and WES data were available. We varied the criteria for SNP extraction and PLINK thresholds to estimate their effect on the accuracy of homozygosity mapping based on WES. Results: Our protocol showed high specificity and sensitivity for homozygosity detection and facilitated the identification of novel mutations in GAN, GBA2, and ZFYVE26 in four families affected by hereditary spastic paraplegia or Charcot-Marie-Tooth disease. Filtering and mapping with optimized parameters was integrated into the HOMWES (homozygosity mapping based on WES analysis) tool in the GenomeComb package for genomic data analysis. Conclusion: We present recommendations for detection of homozygous regions based on WES data and a bioinformatics tool for their identification, which can be widely applied for studying AR disorders.Öğe Nutritional megaloblastic anemia in young Turkish children is associated with vitamin B-12 deficiency and psychomotor retardation(Lippincott Williams & Wilkins, 2006) Katar, Selahattin; Ozbek, Mehmet Nuri; Yaramis, Ahmet; Ecer, SultanWe aimed to investigate the presence of psychomotor retardation, physical and laboratory examination in infants with megaloblastic anemia. Inclusion criteria for the study were; age 9 to 36 months, refusal of food except for breast and cow milk, loss of appetite, developmental delay, significant pallor, and hypersegmentation neutrophils in the peripheral blood smear. A total of 33 children fulfilling the inclusion criteria were enrolled among 3368 patients attending Pediatric Outpatient Clinics of Sirnak-Cizre State Hospital between January 25, 2004 and May 5, 2004. Mean age was 16.4 months. Thirty-two patients had Vitamin B(12) deficiency, 1 patient had folate deficiency, and 10 patients had combined vitamin B(12) and folate deficiency. Statistically, a positive significant relationship was detected between serum vitamin B(12) levels and mean corpuscular volume (P = 0.001, r = 0.56), and between vitamin B(12) levels and hemoglobin (P = 0.004, r = 0.49). We believe that preventative measures such as fortification of flour with vitamin B(12), nutritional support with vitamin B(12) for the mother during pregnancy and nursing, provision of adequate primary preventive health services, and starting complementary food after 6 months of age are important determinants for preventing megaloblastic anemia.Öğe Role and Clinical Significance of Plasma N-Terminal Brain Natriuretic Peptide Measurement in Children with Brain Edema(Georg Thieme Verlag Kg, 2016) Taskesen, Mustafa; Celik, Hasan; Yaramis, Ahmet; Tas, Mehmet A.Objective Brain natriuretic peptide (BNP) is a potent natriuretic and vasodilator factor. BNP plasma concentrations were found to be elevated in patients with brain edema. The purpose of the present study is to evaluate the relationship between plasma NT-proBNP concentration and the presence of brain edema in patients with intracranial pathology. Materials and Methods The plasma NT-proBNP levels of 50 patients and 25 healthy subjects were measured. The NT-proBNP levels of the patient group were measured during admission and after 7 days of treatment. Results NT-proBNP plasma concentrations were found to be significantly higher in the patient group with brain edema than in the control group (p < 0.005). There were no significant differences in the NT-proBNP plasma concentrations between patients with intracranial pathology without brain edema and the control group (p > 0.005). NT-proBNP plasma concentrations were found to be significantly higher in patients with brain edema as compared with patients without brain edema before treatment (p < 0.005). Conclusion These results suggest that excessive secretion of plasma NT-proBNP is related to brain edema. Plasma NT-proBNP levels may serve as a marker to guide the early-diagnostic and therapeutic management in children with brain edema. Further studies are required to evaluate the role of BNP in brain edema pathophysiology.
