Clinical Neuroscience

[DYT1 POSITIVE GENERALISED DYSTONIA: A CASE STUDY OF TWO SIBLINGS]

BEREZNAI Benjámin1, BARACZKA Krisztina1, NAGY Zoltán1, MOLNÁR Mária Judit1

JULY 30, 2007

Clinical Neuroscience - 2007;60(07-08)

[The early-onset generalised dystonia is a dyskinetic movement disorder with a wide variety in phenotype and poor response to pharmacological treatment. A mutation on the DYT1 gene is responsible for the disease in more than 50% of cases with typical early-onset dystonia beginning in a limb. We describe the medical history of two brothers with first signs of focal dystonia at age 12 starting with right side lower limb dystonia of the older brother and writers cramp of the younger one. In both over a period of 6 and 10 years dystonia generalised. The negativ results of MRI, electrophisiological testing and muscle biopsy corroborate the diagnosis of primary dystonia. The DNA from the older patient was tested for the 3 bp deletion in exon 5 of the DYT1 gene by restriction enzyme. The positive result confirmed the diagnosis of early-onset primary dystonia. A short synopsis of routine molecular genetic tests indications and treatment options is outlined.]

AFFILIATIONS

  1. Országos Pszichiátriai és Neurológiai Intézet, Budapest

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Clinical Neuroscience

[MORTALITY OF HOSPITALIZED STROKE PATIENTS IN HUNGARY; 2003-2005]

GULÁCSI László, MÁJER István, KÁRPÁTI Krisztián, BRODSZKY Valentin, BONCZ Imre, NAGY Attila, BERECZKI Dániel

[The aim of our research was to assess the incidence and the 12- and 24-month mortality of hospitalized stroke in Hungary. We analyzed the rate of mortality after stroke and compared it to the standard mortality rate of the population. To assess the incidence we extracted the data of “new” stroke patients (ICD- 10 diagnoses: I60-64) hospitalized in May 2003 from the database of the National Health Insurance Fund Administration. We regarded those as “new” patients who had not been treated with these primary or secondary diagnoses in the previous 24 months. Data were collected by sex and age (age groups: 25-44, 45-64, 65 and over). We analyzed the patients' survival on the basis of their April 2004 and April 2005 data. The incidence of the “new” hospitalized stroke patients was higher in men than in women; the incidence in the age group of 65 and over was 2112/100.000 in males and 1582/100.000 in females, the corresponding values in the 45-64 age group were 623 vs. 366 per 100.000, respectively. In 2003 more than 42 thousand “new” stroke patients were hospitalized in Hungary of whom over 10 thousand died in the first year, followed by a further 2 thousand in the second year. Women’s survival is more favourable than men's: in the first year it is 71.47% vs. 69.24% (65+ group), and 88.18% vs. 83.16% (45-64 group); in the second year the corresponding values are 66.95% vs. 61.62% (65+), and 85.45% vs. 80.90% (45-64), respectively. The risk of death in the first year after stroke, compared to the standard population, is 5.17- fold in women and 4.70-fold in men in the total sample, and 10-15-fold in the 45-64 group. There are large differences by gender, particularly in men of the working age groups (25-44, 45-64), whose mortality is twice as high as that of women of the same age.]

Clinical Neuroscience

[In memoriam István Somogyi MD]

SZILÁRD János, JÁRDÁNHÁZY Tamás

Clinical Neuroscience

[SOCIAL INSURANCE COSTS OF STROKE HOSPITAL TREATMENTS IN HUNGARY; 2003-2005]

KÁRPÁTI Krisztián, MÁJER István, BONCZ Imre, NAGY Attila, BERECZKI Dániel, GULÁCSI László

[Our aim was to assess the social insurance costs of hospital treatments for acute stroke in Hungary between 2003 and 2005. We studied how much burden stroke patients impose on the financer (National Health Insurance Fund Administration) in acute and chronic hospital admissions. We extracted the data of “new” stroke patients (ICD-10: I60-64 diagnosis) hospitalized in May 2003 from the database of the financer. We analyzed active and chronic hospital treatment costs of these patients in the period of 12 months before the stroke and in the following first and second 12 months. Data were collected by sex and age (age groups: 25-44, 45-64, over 65). We studied patients hospitalized in May 2003 with the ICD-10: I60-64 main diagnosis but not being treated with the same diagnosis in the previous 24 months. In the first 12 months of the active care the burden of the disease was (male vs. female) 65+: 254.6 vs. 205.8; 45-64: 341.4 vs. 280.5; 25-44: 370.1 vs. 306.1 thousand HUF per patient. In the second 12 months the costs were 50.6 vs. 36.2; 24.2 vs. 32.6; 27.6 vs. 24.8 thousand HUF respectively. In the first year following the episode the costs of the chronic hospital treatment were (age groups as above) 23.3 vs. 31.3; 28.9 vs. 22.2; 22.8 vs. 22.5 thousand HUF. A year later the chronic hospital costs were 9.0 vs. 10.9; 6.7 vs. 12.2; 1.4 vs. 38.1 thousand HUF respectively. Average costs of stroke are higher in the case of males as are in the case of females, 364.8 vs. 303.0 thousand HUF in the first 24 months. The remarkable difference results from active hospital treatment costs (331.5 vs. 262.1 thousand HUF), while the discrepancy is smaller in the chronic hospital care (33.3 vs. 40.9 thousand HUF).]

Clinical Neuroscience

[CONGRESS CALENDAR]

[Congress calendar 2007;60(07-08)]

Clinical Neuroscience

[A CASE OF FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INTRANEURONAL INCLUSIONS]

LEEL-ŐSSY Lóránt, RÉVÉSZ Tamás, ALMÁSI Kálmán, SZŰCS Iván, SZABÓ Éva

[The case of a 57 year-old-man is reported who has been treated several times because of his relatively expedite mental decline which has begun four years before his death. His first complaints were forgetfulness, mild changes in his behaviour, confusion and difficulty in speech. The neuropsychiatric examinations displayed a mild difficulty in naming and sometimes comprehension of words, although his speech was gramatically correct. Furthermore the patient presented a very severe decrease in short term memory with dementia and confusion. These symptomes together with the results of CT and test examinations established the diagnosis of Alzheimer's disease. Finally pneumonia afflicted the patient during the last hospitalization and he died. Histopathological examinations of the brain showed a severe, mainly temporofrontal atrophy caused by an extensive cortical neuronal loss and gliosis without neurofibrillar degenerations and senile plaques which characterize the Alzheimer's disease. Tau-positivity Pick- and Lewy-bodies may not be found. The loss of neurons associated in some places with spongiosity of laminar form. The ubiquitine-positive intracytoplasmic inclusions proved to be the most characteristic feature in the swollen neurons. These mainly occurred in the gray matter of the mediobasal part of the temporal lobe. The positivity of GFAP immunocytochemistry revealed a definite astrocytosis in the affected parts of the gray matter. In the temporal and frontal cortex scattered ballooned cells (achromatic or Pick cells) were seen in αB-crystallin immunohistochemistry. These findings confirmed the diagnosis of the case of frontotemporal lobar degeneration with ubiquitin-positive intraneuronal inclusions (FTLD-U) without tau-positivity. The separation of the different forms in the group of the frontotemporal dementias is recommended by means of the modern immunocytochemical examinations.]

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Cases of inborn errors of metabolism diagnosed in children with autism

CAKAR Emel Nafiye, YILMAZBAS Pınar

Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism. One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients were analyzed retrospectively. Out of the 3261 patients who presented to our outpatient clinic, 179 (5.48%) were diagnosed with autism spectrum disorder and were included in the study. As a result of specific metabolic examinations performed, 6 (3.3%) patients were diagnosed with inborn errors of metabolism. Two of our patients were diagnosed with classical phenylketonuria, two with classical homocystinuria, one with mucopolysaccharidosis type 3D (Sanfilippo syndrome) and one with 3-methylchrotonyl Co-A carboxylase deficiency. Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. Careful evaluation of the history, physical examination and additional findings in patients diagnosed with autism spectrum disorder will guide the clinician in the decision-making process and chose the appropriate specific metabolic investigation. An underlying inborn errors of metabolism may be a treatable cause of autism.

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Although vertigo is one of the most common complaints, intracranial malignant tumors rarely cause sudden asymmetry between the tone of the vestibular peripheries masquerading as a peripheral-like disorder. Here we report a case of simultaneous temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting as acute unilateral vestibular syndrome, due to the reawakening of a primary gastric signet ring cell carcinoma. Purpose – Our objective was to identify those pathophysiological steps that may explain the complex process of tumor reawakening, dissemination. The possible causes of vestibular asymmetry were also traced. A 56-year-old male patient’s interdisciplinary medical data had been retrospectively analyzed. Original clinical and pathological results have been collected and thoroughly reevaluated, then new histological staining and immunohistochemistry methods have been added to the diagnostic pool. During the autopsy the cerebrum and cerebellum was edematous. The apex of the left petrous bone was infiltrated and destructed by a tumor mass of 2x2 cm in size. Histological reexamination of the original gastric resection specimen slides revealed focal submucosal tumorous infiltration with a vascular invasion. By immunohistochemistry mainly single infiltrating tumor cells were observed with Cytokeratin 7 and Vimentin positivity and partial loss of E-cadherin staining. The subsequent histological examination of necropsy tissue specimens confirmed the disseminated, multi-organ microscopic tumorous invasion. Discussion – It has been recently reported that the expression of Vimentin and the loss of E-cadherin is significantly associated with advanced stage, lymph node metastasis, vascular and neural invasion and undifferentiated type with p<0.05 significance. As our patient was middle aged and had no immune-deficiency, the promoting factor of the reawakening of the primary GC malignant disease after a 9-year-long period of dormancy remained undiscovered. The organ-specific tropism explained by the “seed and soil” theory was unexpected, due to rare occurrence of gastric cancer to metastasize in the meninges given that only a minority of these cells would be capable of crossing the blood brain barrier. Patients with past malignancies and new onset of neurological symptoms should alert the physician to central nervous system involvement, and the appropriate, targeted diagnostic and therapeutic work-up should be established immediately. Targeted staining with specific antibodies is recommended. Recent studies on cell lines indicate that metformin strongly inhibits epithelial-mesenchymal transition of gastric cancer cells. Therefore, further studies need to be performed on cases positive for epithelial-mesenchymal transition.

Clinical Neuroscience

Alexithymia is associated with cognitive impairment in patients with Parkinson’s disease

SENGUL Yildizhan, KOCAK Müge, CORAKCI Zeynep, SENGUL Serdar Hakan, USTUN Ismet

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Clinical Neuroscience

[The role of sleep in the relational memory processes ]

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[A growing body of evidence suggests that sleep plays an essential role in the consolidation of different memory systems, but less is known about the beneficial effect of sleep on relational memory processes and the recognition of emotional facial expressions, however, it is a fundamental cognitive skill in human everyday life. Thus, the study aims to investigate the effect of timing of learning and the role of sleep in relational memory processes. 84 young adults (average age: 22.36 (SD: 3.22), 21 male/63 female) participated in our study, divided into two groups: evening group and morning group indicating the time of learning. We used the face-name task to measure relational memory and facial expression recognition. There were two sessions for both groups: the immediate testing phase and the delayed retesting phase, separated by 24 hours. 84 young adults (average age: 22.36 (SD: 3.22), 21 male/63 female) participated in our study, divided into two groups: evening group and morning group indicating the time of learning. We used the face-name task to measure relational memory and facial expression recognition. There were two sessions for both groups: the immediate testing phase and the delayed retesting phase, separated by 24 hours. Our results suggest that the timing of learning and sleep plays an important role in the stabilizing process of memory representation to resist against forgetting.]

Clinical Neuroscience

Evaluation of the effectiveness of transforaminal epidural steroid injection in far lateral lumbar disc herniations

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