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Biomedical subjects

M Calişkan

Publications and source records attributed to M Calişkan.

At least 19 recordsLinked to original sources

99Tc-HmPAO SPECT in 13 patients with classic lissencephaly.

In this study, technetium-99 ((99)Tc)-hexamethylpropyleneamine-oxine single-photon emission computed tomography (SPECT) was performed on 13 children with classic lissencephaly (nine with epileptic seizures, four without seizures). Focal or multifocal hypoperfusions were observed in 12 patients. The hypoperfused areas observed on SPECT scanning did not correlate with the localization of agyric-pachygyric regions in all patients. The distribution of perfusion abnormalities by SPECT and the localization of agyria-pachygyria as detected by magnetic resonance imaging did not correlate strongly. All nine patients with seizures and three of the four patients without seizures had focal or multifocal cerebral blood flow abnormalities on the SPECT scans. The presence of brain perfusion abnormalities detected by SPECT and the occurrence of epileptic seizures did not have a significant relationship. These results suggest that the role of SPECT studies in classic lissencephaly is not clearly defined. More sophisticated methods are needed to clarify the correlation between structural and functional abnormalities of patients diagnosed with lissencephaly.

Brain↗

Effect of simvastatin therapy on blood and tissue ATP levels and erythrocyte membrane lipid composition.

3-Hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors decrease mevalonate and subsequently cholesterol synthesis competitively. Mevalonate is also the precursor of ubiquinone. Ubiquinone is an important component of electron transport chain. We therefore investigated the effect of simvastatin on rat blood and tissue ATP concentrations and the lipid composition of red blood cell membranes after 4 weeks of therapy. Significant reductions in rat plasma cholesterol, triglyceride, and blood ATP concentrations were detected. Tissue ATP levels were not affected. Membrane phospholipids increased, while cholesterol and the cholesterol to phospholipid ratio decreased (P < 0.05). A positive correlation between the plasma cholesterol concentration and the cholesterol to phospholipid ratio was noted (P < 0.05, r = 0.851). Our results show that HMG-CoA reductase inhibitors change the composition and probably also the functions of cell membrane lipids and blood ATP concentration.

Adenosine Triphosphate↗

Clinical assessment, MRI, and EMG in congenital brachial plexus palsy.

Thirteen infants with congenital brachial plexus palsy (eight with upper, five with upper and lower) were monitored by magnetic resonance imaging (the first performed between 7 and 41 days of age and the second at 3 months of age), electromyography (the first performed between 27 and 50 days and the second at 3 months), and the muscle scoring system of the Hospital for Sick Children (at 3, 6, and 9 months of age). The findings were evaluated with respect to the clinical status of the patients at 12 months of age. Magnetic resonance imaging, which could be performed readily even in the neonatal period, revealed pseudomeningoceles in two of the five patients with a poor prognosis (in all planes even in the early days after birth) and in two of the eight patients with a good prognosis (more easily visible at 3 months of age). Electromyography implied root avulsion in three of five patients with a poor prognosis. Electromyography can be of great value for patients with a poor prognosis and root avulsion but may underestimate the severity. The muscle scoring system (Hospital for Sick Children) was determined to be the most predictive method for prognosis.

Brachial Plexus↗

Clinical significance of nuclear p53 protein accumulation in bladder cancer.

OBJECTIVES: To investigate the correlation of nuclear p53 accumulation with disease outcome in a cohort of patients with transitional cell carcinoma of the bladder. METHODS: A total of 90 patients (11 female, 79 male) with transitional cell carcinoma of the bladder were included in this study. Tumour samples from the primary tumour were analysed by immunohistochemistry for nuclear accumulation of p53 protein. Outcome of each patient was recorded and investigated for a possible relation with p53 status. RESULTS: Nuclear p53 deposition was determined in 22 specimens. The nuclear p53 deposition was seen in less than 20% of the nuclei examined in 13 and more than 20% in 9 cases. No stromal staining was observed. Nuclear p53 deposition was present in 15.2% (7/46) of grade 2 tumours, and 34% (15/44) of grade 3 tumours (p=0.037). Stage distribution revealed 15.5% (5/33) positivity in stage pTa, 25.8% (8/31) in pT1 and 34% (9/26) in stage pT2-3 tumours. Tumours with p53 nuclear accumulation had a higher rate of recurrence and progression and shorter survival. CONCLUSION: Results of the current study indicate p53 as an important factor in determination of biological behaviour of bladder cancer.

Carcinoma, Transitional Cell↗

Prognostic significance of p53 protein accumulation in stage pT1 transitional cell carcinoma of the bladder.

OBJECTIVE: Mutations in the tumour suppressor gene p53 results in the production of a mutant type, dysfunctional p53 protein which can readily be detected in the cell nucleus by immunohistochemical staining. This study aims to investigate the association of nuclear p53 protein accumulation with the clinical outcome of stage pT1 transitional cell carcinoma of the bladder which is renowned for high rates of recurrence and progression. METHODS: TUR samples of the tumours from fifty-two patients with primary stage T1 bladder cancer were analyzed immunohistochemically using the standard avidin-biotin peroxidase method for nuclear p53 accumulation. Status of p53 immunostaining was correlated with tumour recurrence, disease progression and three-year survival of each patient. RESULTS: The rate of tumour recurrence in pT1 bladder cancer was 36% in patients with tumours stained negatively for p53 protein and 78% in patients with tumours stained positively for p53 protein. Disease progression was seen in 15% of p53 (-) patients and in 56% of p53 (+) patients. CONCLUSIONS: In stage pT1 bladder tumours p53 nuclear accumulation indicates higher rates of tumour recurrence and disease progression. Accordingly, in patients who have pT1 bladder tumours with nuclear p53 accumulation, institution of more aggressive therapy should be considered and early radical therapeutic modalities should be offered to these patients.

Adult↗

Acute childhood hemiplegia associated with chickenpox.

Although primary varicella-associated central nervous system complications and herpes zoster ophthalmicus with delayed hemiplegia are well known, and chickenpox is a common infection, cerebral vasculopathy associated with chickenpox has only been described recently. We report the case of an 18-month-old girl who developed a right hemiplegia 10 days after the onset of a primary varicella infection. She has the shortest latent interval in the literature. Cranial computed tomography and magnetic resonance imaging suggest an infarction involving the left putamen and internal capsule. Magnetic resonance angiography is normal. Possible causes of acute infantile hemiplegia are excluded. Neurologic signs gradually improve without any specific treatment. A review of the literature is also presented.

Acute Disease↗

Neuroradiologic aspects of West syndrome.

Cranial computed tomography (CT) or magnetic resonance imaging (MRI), or both, of 143 patients with West syndrome were retrospectively reviewed. Twenty-four children had normal CT scans. The most striking findings on pathologic scans were cerebral atrophy, ventricular enlargement, and encephalomalacia. Of 78 children who underwent MRI, 14 had normal scans. Cerebral malformations, cerebral atrophy, and delayed myelination were the most common pathologic findings and were observed in 25, 20, and 16 of the cases, respectively. MRI was found to be more informative in 21 of the 27 patients who underwent both neuroimaging methods. In fact, in two patients with normal CT scans, MRI revealed delayed myelination and hyperintensity of the hippocampal area on T2-weighted images in one and increased intensity of basal ganglia on T1-weighted images in the other. On the basis of all data, four patients were classified as cryptogenic and 126 as symptomatic. The most frequent etiologic factors were perinatal asphyxia, cerebral malformations, and infections, encountered in 34, 25, and 24 of the children, respectively. Twenty-one cases could be classified solely on the basis of the data obtained with neuroimaging modalities. The data confirm and provide additional details of the ways in which neuroimaging, especially MRI, is useful in distinguishing between cryptogenic and symptomatic cases of West syndrome.

Brain↗

Vitamin K deficiency--late onset intracranial haemorrhage.

A retrospective study is presented of the clinical features and outcome of late onset haemorrhagic disease due to vitamin K deficiency in 11 babies who were admitted to the emergency or child neurology unit during a 4-year period (January 1994-December 1997). The disease occurred in infants between 30 and 119 days of age (mean: 56+/-24 days). None of them received vitamin K after birth and all were breastfed. The presenting complaints were seizures (91%), drowsiness (82%), poor sucking (64%), vomiting (46%), fever (46%), pallor (46%), acute diarrhoea (27%), irritability and high-pitched cry (18%). On examination, tense or bulging fontanelle (73%), anisocoria (36%), weak neonatal reflexes (18%), cyanoses (18%) were the most frequent findings. The localizations of the intracranial haemorrhage were as follows: intracerebral (91%), subarachnoid (46%), subdural (27%), and intraventricular (27%). No fatality was observed. However, after a follow-up period ranging from 6 to 48 months (mean: 21+/-13 months), only three (27%) infants remained neurologically normal. Seizure disorders (73%), severe psychomotor retardation (46%), cerebral palsy (46%) and microcephaly (46%) were observed in the remainder. Hydrocephalus developed in three (27%) babies but none of them required shunt replacement. The value is emphasized of vitamin K prophylaxis in the newborn to reduce the incidence of late onset intracranial haemorrhage and handicap in children.

Follow-Up Studies↗

Multiple pineal cysts associated with an ependymal cyst presenting with infantile spasm.

We present a unique case of infantile spasm in a patient with multiple pineal cysts associated with an ependymal cyst. Such a morphological etiology, to our knowledge, has not been described for patients with infantile spasm. Although postoperative neuroradiological studies demonstrated satisfactory surgical results, the patient continued to have seizures.

Brain Diseases↗

Continuous muscle fiber activity syndrome.

A 5.5 year old Turkish boy who suffered from progressive muscle stiffness was diagnosed as having continuous muscle fiber activity syndrome. Electromyography showed continuous motor neuron activity at rest and following intravenous injection of diazepam. Peripheral nerve block, spinal and general anesthesia diminished the spontaneous activities. The clinical and electrophysiological findings of our case were compared to the previously reported cases with emphasis on the heterogeneity of the syndrome.

Child, Preschool↗

8-year clinical experience in cerebral palsy.

The changes in frequency and distribution of the clinical types of cerebral palsy (CP) were evaluated in 1873 CP cases admitted to the Department of Pediatric Neurology between 1982 and 1989. The observed panorama of CP was unlike the situation in developed countries. The majority of the cases were term-born and perinatal risk factors were noted to play the predominant role in the etiology of these cases. On the other hand, the most common type of CP was spastic quadriplegia where as spastic diplegia cases were less commonly encountered. These differences led us to conclude that the clinical panorama of CP might be an indicator of socio-economic development.

Age Factors↗

Infantile neuroaxonal dystrophy: diagnosis by skin biopsy.

A child who shows progressive motor and mental deterioration after the first year of life, who has pyramidal signs, marked muscle hypotonia, but no seizures, suggests to have infantile neuroaxonal dystrophy (INAD). Beyond the age of two years, the EEG also entails characteristic findings. Diagnosis may be obtained by an ultrastructural examination of biopsied skin. The respective clinical and morphological findings are recorded and illustrated from four patients in this report.

Biopsy↗

Thalamic hyperdensity--is it a diagnostic marker for Sandhoff disease?

Sandhoff disease, also known as GM2-gangliosidoses variant 0, is caused by the deficient activity of both hexosaminidase A and hexosaminidase B. We report a 15-month-old boy diagnosed with Sandhoff disease by demonstrating the enzyme deficiency. The interesting finding was bilateral thalamic hyperdensity on the CT scan. The hyperdensity in all previously published cases was homogeneous and symmetric and limited to the thalamus; the cause still remains unknown. We suggest that the finding of dense thalami may be useful as a specific diagnostic criterion for the GM2-gangliosidoses and especially for Sandhoff disease.

Brain↗

Classification of epilepsies and epileptic syndromes in a child neurology unit.

We attempted to classify, according to the 1989 International Classification of Epilepsies and Epileptic Syndromes, 1076 patients examined during a 4-year period (1 January 1988 to 31 December 1991) in the Child Neurology Unit. We aimed to determine the proportion of the clearly defined epileptic syndromes or the non-specific categories of the International Classification of Epilepsies and Epileptic Syndromes, to estimate the relative incidence of different categories and to review the criteria for defining epileptic syndromes. The proportion in categories as defined by the International Classification of Epilepsies and Epileptic Syndromes in our patients was as follows. Localization-related epilepsies and syndromes: idiopathic 3.15%, symptomatic 17%, cryptogenic 9.20%. Generalized epilepsies and syndromes: idiopathic 20.35%, cryptogenic or symptomatic 14.68%, symptomatic 11.5%. Epilepsies and syndromes undetermined whether focal or generalized: with both generalized and focal seizures 7.8%, without unequivocal focal or generalized features 1.68%. Special syndromes: situation-related seizures: febrile convulsions 12.83%, isolated seizures or isolated status epilepticus 1.02%, seizures due to an acute toxic or metabolic event 1.20%. The presence of non-specific categories in the International Classification of Epilepsies and Epileptic Syndromes enables the categorization of all patients but it gives the false impression of diagnostic precision to what are essentially uncertain cases.

Adolescent↗

Use of localized proton nuclear magnetic resonance spectroscopy in Canavan's disease.

Canavan's disease is characterized by megalencephaly, leukodystrophy and early motor and mental retardation. On computerized tomography and magnetic resonance imaging, severe changes compatible with white matter disease due to demyelination is observed. It has been demonstrated that urinary N-acetylaspartate levels are increased because of a deficiency of aspartoacylase (N-acyl-L-aspartate aminohydrolase) in these patients. In this study, with the use of proton nuclear magnetic resonance spectroscopy, we were able to demonstrate elevated levels of N-acetylaspartate compared to choline and creatine in the frontal region white matter of three patients. The in vivo measurement of N-acetylaspartate, choline and creatine in the brain by magnetic resonance spectroscopy offers an additional noninvasive diagnostic test for establishing the diagnosis of Canavan's disease.

Aspartic Acid↗

Late infantile acid maltase deficiency: a case report.

A five-year-old boy with late-infantile (juvenile) form of acid maltase deficiency is presented. His symptoms were restricted to skeletal muscle. There is commonly a correlation between the amount of residual acid maltase activity and the severity of the clinical picture. Although the residual enzyme level was very low in our patient, no progression of his neurological findings have been observed during the follow-up period of two years.

Age of Onset↗

Clinical features of 21 patients with lissencephaly type I (agyria-pachygyria).

Lissencephaly (agyria-pachygyria) is the most severe neuronal migration disorder, characterized by total or partial absence of gyri. In this study, 21 patients with lissencephaly type I (9 girls, 12 boys) with a mean age of 19 +/- 21 months (2 weeks-8 years) were evaluated clinically and graded according to neuroradiological findings (19 patients by magnetic resonance imaging MRI and 2 by computed tomography CT). Three patients were classified as lissencephaly grade 2 and 18 patients as grade 3 or 4. Clinically, 12 patients (57%) had microcephaly, and eight (38%) had facial dysmorphism. All the patients had prominent psychomotor retardation, moderate to severe; the most frequent neurological findings were spastic guadriplegia (36.4%) and hypotonia with exaggerated tendon reflexes (27.3%). Seventy-eight percent of the patients had epileptic seizures resistant to conventional treatment. Lissencephaly is a cerebral cortical malformation that should be considered in children with developmental delay with or without microcephaly and facial dysmorphism. In addition, it should be investigated in the etiology of early-onset childhood epilepsy.

Abnormalities, Multiple↗