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Biomedical subjects

S Saygi

Publications and source records attributed to S Saygi.

At least 19 recordsLinked to original sources

Serial analysis of gene expression in the hippocampus of patients with mesial temporal lobe epilepsy.

Hippocampal sclerosis constitutes the most frequent neuropathological finding in patients with medically intractable mesial temporal lobe epilepsy. Serial analysis of gene expression was used to get a global view of the gene profile in human hippocampus in control condition and in epileptic condition associated with hippocampal sclerosis. Libraries were generated from control hippocampus, obtained by rapid autopsy, and from hippocampal surgical specimens of patients with mesial temporal lobe epilepsy and the classical pattern of hippocampal sclerosis. More than 50,000 tags were analyzed (28,282, control hippocampus; 25,953, hippocampal sclerosis) resulting in 9206 (control hippocampus) and 9599 (hippocampal sclerosis) unique tags (genes), each representing a specific mRNA transcript. Comparison of the two libraries resulted in the identification of 143 transcripts that were differentially expressed. These genes belong to a variety of functional classes, including basic metabolism, transcription regulation, protein synthesis and degradation, signal transduction, structural proteins, regeneration and synaptic plasticity and genes of unknown identity of function. The database generated by this study provides an extensive inventory of genes expressed in human control hippocampus, identifies new high-abundant genes associated with altered hippocampal morphology in patients with mesial temporal lobe epilepsy and serves as a reference for future studies aimed at detecting hippocampal transcriptional responses under various pathological conditions.

Base Sequence↗

Lafora disease due to EPM2B mutations: a clinical and genetic study.

OBJECTIVE: To study EPM2B gene mutations and genotype-phenotype correlations in patients with Lafora disease. METHODS: The authors performed a clinical and mutational analysis of 25 patients, from 23 families, diagnosed with Lafora disease who had not shown mutations in the EPM2A gene. RESULTS: The authors identified 18 mutations in EPM2B, including 12 novel mutations: 4 nonsense mutations (R265X, C26X, W219X, and E67X), a 6-base pair (bp) microdeletion resulting in a two amino acid deletion (V294_K295del), a 4-bp insertion resulting in a frameshift mutation (S339fs12), and 6 missense mutations (D308A, I198N, C68Y, E67Q, P264H, and D233A). In our data set of 77 families with Lafora disease, 54 (70.1%) tested probands have mutations in EPM2A, 21 (27.3%) in EPM2B, and 2 (2.6%) have no mutations in either gene. The course of the disease was longer in patients with EPM2B mutations vs patients with EPM2A mutations. CONCLUSIONS: Genetic allelic heterogeneity is present in Lafora disease associated with mutations in EPM2B. Patients with mutations in EPM2A and EPM2B express similar clinical manifestation, although patients with EPM2B-associated Lafora disease seem to have a slightly milder clinical course. The lack of mutations in EPM2A and EPM2B in two families could be because of the presence of mutations in noncoding, nontested regions or the existence of an additional gene associated with Lafora disease.

Adolescent↗

Psychiatric morbidity, quality of life, and disability in mesial temporal lobe epilepsy patients before and after anterior temporal lobectomy.

Considerable interest has been focused on the psychiatric complications of medically refractory temporal lobe epilepsy (TLE) before and after epilepsy surgery. The aim of the present study was to evaluate the psychiatric status, quality of life, and level of disability in medically refractory mesial temporal lobe epilepsy (MTLE) patients, a homogenous subgroup of patients with TLE, before and after anterior temporal lobectomy (ATL). The study population consisted of 22 patients with medically refractory MTLE who were candidates for ATL. Patients were examined before surgery as well as in the third and sixth months of the postoperative period. Psychiatric diagnosis was determined by using SCID-I. To rate the severity of psychiatric disorders, BPRS, HDRS, and HARS were employed on each visit. WHO-DAS-II and WHOQOL-BREF were used to determine the level of disability and quality of life. Preoperatively, six patients had a psychiatric diagnosis. Three months after surgery, six of the patients had psychiatric diagnoses. Five of these six patients had not been previously diagnosed. There was no significant difference between preoperative and postoperative follow-up evaluations in terms of HDRS, HARS, and BPRS ratings. With respect to the total scores and domains of WHO-DAS-II, the change in pre- and postoperative evaluations was statistically significant only for the social life attendance domain. There was no significant difference in the mean scores on the WHOQOL-BREF domains or on the first question about general evaluation of quality of life. For the second question on the level of satisfaction with health, the difference between the three ratings was statistically significant. Preoperative and postoperative rates of psychiatric disorders in our sample were low. While social phobia was frequently seen preoperatively, the postoperative period was spearheaded by major depressive disorder. The decrease in disability in attendance to social life and improvement in the quality of health were in concordance with the literature, indicating the positive results of surgical treatment of epilepsy on quality of life. This study suggests that surgical intervention might be one of the causes of postoperative psychiatric disorders in patients with MTLE.

Adolescent↗

Neurotrophin receptor immunoreactivity in the hippocampus of patients with mesial temporal lobe epilepsy.

Recent evidence supports a critical role of neurotrophins in the regulation of both neuronal survival and synaptic transmission during epileptogenesis. We have examined the immunohistochemical expression of high- (tyrosine kinase receptors, trk) and low-affinity (p75) neurotrophin receptors (NTRs) in the hippocampal specimens from 18 patients with chronic temporal lobe epilepsy [TLE; 14 patients with hippocampal sclerosis (HS) and four with focal lesions (tumours) not involving the hippocampus proper]. Nonepileptic autopsy brains (n = 6) and surgical specimens from tumour patients without epilepsy (n = 3) were used as controls. Immunoreactivity (IR) for the trk receptors (trkA, trkB, trkC) was detected in normal human brain within the pyramidal neurones of hippocampal cornus ammoni (CA) regions and in the dentate gyrus. There were no detectable differences in the neuronal trk IR patterns in the hippocampus between control and TLE cases with HS, except for a decrease in neuronal density in regions where cell death had occurred (CA1, CA3 and CA4). In contrast, a consistent increase in trkA IR was observed in reactive astrocytes in CA1 and dentate gyrus. The low-affinity p75 neurotrophin receptor (p75(NTR)) was expressed in low levels in postnatal normal hippocampus. In contrast, neuronal p75(NTR) IR was detected in 10/14 cases of HS in spared neurones within the CA and hilar regions of the hippocampus. Double labelling revealed that p75(NTR)-positive neurones also contain trk receptor IR. In six cases with prominent glial activation strong p75(NTR) IR was observed in microglial cells within the sclerotic hippocampus. The present results indicate that changes in NTR expression are still detectable in the hippocampus of patients with chronic TLE and involve both glial and neuronal cells. Reactive astrocytes were immunoreactive for trkA, whereas activated microglia cells were reactive for p75(NTR), suggesting different functions for specific NTRs in the development of reactive gliosis. Moreover, the increased expression of p75(NTR) in hippocampal neurones of TLE patients may critically influence the neuronal survival during the epileptogenic process.

Adolescent↗

Determination of heavy metal contents in human colostrum samples by electrothermal atomic absorption spectrophotometry.

Determination of lead, cadmium, nickel, chromium, manganese and copper levels in colostrum samples (n = 30), collected from middle-class mothers, was carried out by electrothermal atomic absorption spectrophotometer (ETAAS) with Zeeman effect background correction using a tungsten-palladium-citric acid chemical modifier mixture. A wet-ashing procedure was applied to dissolve the samples and to remove the fat. The graphite furnace temperature programme for analytes determined by ETAAS was studied, and the optimum pyrolysis temperatures of Pb, Cd, Ni, Cr, Mn and Cu were determined in the presence of the modifier mixture. Detection limits of Pb, Cd, Cu, Mn and Cr were determined using a modifier mixture solution. Zinc and iron levels were determined by Zeeman flame atomic absorption spectrometer (F-AAS). Heavy metal levels (mean values) found in colostrum samples were 14.6 microg/l of Pb, 2.8 microg/l of Cd, 27.8 microg/l of Ni, 8.6 microg/l of Cr, 43.2 microg/l of Mn, 278 microg/l of Cu, 12.9 mg/l of Zn, and 3.5 mg/l of Fe. These metal levels were compared with results from other studies in different countries.

Adult↗

Epilepsia partialis continua: clinical and electrophysiological features of adult patients.

In this study we reviewed the clinical, electrophysiological and neuroimaging data of 21 patients with epilepsia partialis continua (EPC), which is a rare form of epilepsy with focal motor seizures persisting hours to years. We found infections, cerebrovascular events and tumors as the most common causes of EPC in adults. SSPE was also shown as a cause of EPC. EPC in SSPE patients was resistant to therapies and persisted more than 1 year. EPC is usually a predictor of poor outcome and 29% of patients died after EPC in this study. As prognosis is usually bad and as response to treatment is poor in patients who had EPC, early diagnosis and treatment of the underlying cause is important. Although the most common etiologies are infections, cerebrovascular events and tumors, if EPC persists several months SSPE should be kept in mind as a rare cause of EPC. MRI should be repeated in chronic cases to show dysplastic cortex, which was shown in 1 patient in this study.

Adult↗

The role of patient companions in long-term video-EEG monitoring.

In developing countries it is difficult to have full-time dedicated nurses in Epilepsy Monitoring Units (EMU). Our one-bed EMU is within the Neurology Service and is adequately staffed during daytime working hours only. So we created a new model where the patient's companion was asked to press a nurse call button, allowing the examination of the patient by the nurse. In this study we aimed to understand how patient companions behaved and which factors influenced their behaviour. Patients were allowed to choose a single companion who were educated by the specialist monitoring nurse according to a protocol. Only the first recorded seizures of the patients were included in the study. The seizures were reviewed from the video-cassette recordings and the behaviour of the companions was scored according to the results of the following three questions: (1) when was the seizure noticed?; (2) was the nurse call button pushed?; and (3) did the companion prevent the recording of the seizure by the camera? The companions were grouped according to the following criteria; age, sex, level of education, type of relationship. The scores were compared for each criterion separately. The behaviours of the 50 companions (34F, 16M; age: 25-72) were studied. When statistically compared for age, sex and level of education, there were no significant differences between different groups. However, the mean score of the 47 companions who were immediate family members (3.72) was greater than those three who were not (1.66) In one-bed EMUs, patient companions who are family members can help nurses in the early detection of seizures.

Adult↗

Familial adult onset myoclonic epilepsy associated with migraine.

We report a new type of migraine associated epileptic syndrome in a family: adult onset myoclonic epilepsy with benign course and migraine. Affected members of the family had myoclonic and rare generalised tonic-clonic seizures. Most of the patients, but not all, had a history of migraine. Also, some cases of the family had only migraine. This family will be discussed because of two distinct features. Firstly, in this family a different type of epilepsy, adult onset myoclonic epilepsy was diagnosed that has not been classified in the ILAE 1989, classification(s), but was similar to that previously reported in Japanese families. Secondly, in most of the cases migraine was associated with the epilepsy.

Age of Onset↗

The value of provocation methods in patients suspected of having non-epileptic seizures.

Non-epileptic seizures (NES) are reported in 18-23% of patients referred to comprehensive epilepsy centres. Non-epileptic seizures may also be present in 5-20% of the patients who are diagnosed as having refractory seizures. Because of their prevalence, financial and psychosocial outcomes cannot be ignored and accurate diagnosis is of the utmost importance. Various methods of seizure induction have been developed with the aim of differentiating epileptic from non-epileptic seizures. However, recording the attacks by video-EEG monitoring is the gold standard. In our outpatient EEG laboratory we try to induce seizures with verbal suggestion or IV saline infusion in patients who are referred by a clinician with the diagnosis of probable non-epileptic seizures. In this study we investigated the results of 72 patients who were referred between January 1992-June 1996. Non-epileptic seizures were observed in 52 (72.2%) patients. Thirteen of these patients still had risk factors for epilepsy. We could not decide whether all of their previous attacks were non-epileptic because 10-30% of the patients with NES also have epileptic seizures. For a more accurate diagnosis it was decided that these 13 patients, together with the 20 patients who did not have seizures with induction, needed video-EEG monitoring. Thirty-nine patients who had NES and no risk factors for epilepsy were thought to have pure non-epileptic seizures. We claim that not all patients suspected of having NES need long-term video-EEG monitoring and almost half (54.2%) of the cases can be eliminated by seizure induction with some provocative techniques.

Adolescent↗

Circling seizures in a case with Wilson's disease.

We report a case of Wilson's disease with circling seizures. Because of the existence of other types of frontal automatism and the EEG focus on the frontal regions, circling seizures of the patient were thought to originate from the frontal lobe. Magnetic resonance imaging demonstrated large cavitary lesions on bilateral frontal lobes. The mechanisms of circling behavior are discussed in association with Wilson's disease.

Adolescent↗

Importance of cranial nerve involvement in nasopharyngeal carcinoma. A clinical study comprising 124 cases with special reference to clinical presentation and prognosis.

A review of nasopharyngeal carcinomas (NPCs) treated in the Hacettepe University Hospitals is presented. One hundred twenty-four patients between the ages of 3 years and 72 years were managed in the period 1968-1992. Of these cases, 48 had only cranial nerve (CN) involvement on admission. The most commonly affected CNs were the VIth and the Vth, in that order. The prognostic significance of this finding is obvious, because early diagnosis and treatment is vital in a cancer patient. This study includes retrospective analysis of 124 patients with NPC. The patients were investigated with respect to clinical and radiological diagnosis and outcome. Our results also show that CN involvement in NPC usually requires careful neuro-otological examination. It is suggested that increased knowledge and understanding of the disease among neurosurgeons, neurologists and ENT surgeons would improve the prognosis of patients with NPC.

Adolescent↗

Beta-interferon plus inosiplex in the treatment of subacute sclerosing panencephalitis.

We treated seven patients with subacute sclerosing panencephalitis with beta-interferon and oral inosiplex for 2 to 15 months. Stabilization or improvement was observed in three patients. The effect of treatment was equivocal in two other patients who became stable. The disease continued its progression in the remaining two patients who died. Treatment shorter than 2 months was not effective. Changes in electroencephalograms (EEG), magnetic resonance images (MRI), or cerebrospinal fluid measles antibody levels did not have a close correlation with clinical course. These results suggest that beta-interferon might be efficient in some patients with subacute sclerosing panencephalitis and justify its trial in larger studies with longer follow-up.

Adolescent↗

Rotatory seizures in juvenile myoclonic epilepsy.

Rotatory seizures have been reported in association with focal intracranial lesions. This type of seizure was also described in patients with primary generalized epilepsies. To our knowledge, there is only one previous publication denoted an association between juvenile myoclonic epilepsy (JME) and rotatory seizures. We present two female patients with JME and rotatory seizures together. The onset of myoclonic jerks and generalized tonic clonic (GTC) seizures was in their midteens. Their interictal EEGs showed bilateral symmetric spike and polyspike wave discharges. The rotatory seizures of the patients started at age of 26 and 33 years, respectively. In one of the patients, turning to the left was followed by three or four complete turns, after then, she had GTC seizures. The other patient has turned to the right with only one or two turns and sometimes continued with GTC seizures. Neuroradiologic investigations including brain CT, MRI, and SPECT were performed. Response to valproate therapy of rotatory seizures was good. We believe that rotatory seizures are rarely seen in JME patients, and this causes false diagnosis which lead unsuitable drug choice.

Adult↗

Circling seizures.

Twelve cases with circling seizures are presented with their clinical, electroencephalographic and radiological findings. Four patients had symptomatic partial epilepsy, five had cryptogenic partial epilepsy, and the remaining three had idiopathic generalized epilepsy. Three of the patients with symptomatic partial epilepsy had frontal lesion, and one had parito-occipital lesion. Turning direction had no lateralizing value in patients with partial epilepsy. Based on our study we conclude that circling seizures may occur in different epileptic syndromes and epilepsies. In cases with symptomatic partial epilepsy, lesions are mostly located in frontal lobes but also in parietooccipital areas.

Adult↗