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Biomedical subjects

A Siva

Publications and source records attributed to A Siva.

At least 19 recordsLinked to original sources
PubMed2006

The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome.

Mutations in Notch3 gene are responsible for the cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). It is a late onset neurological disorder recognized by recurrent strokes and dementia. We describe here the clinical and molecular findings of three unrelated Turkish families with CADASIL syndrome. Two of the families were identified to have the same mutation, p.R110C (c.C328T), located in exon 3 of the Notch3 gene. Interestingly, the phenotypic expression of the disease in these two families was markedly different in severity and age of onset implicating additional genetic and/or non-genetic modulating factors involved in the pathogenesis. In addition, we identified the novel p.C201R (c.T601C) mutation in exon 4 of the Notch3 gene in a proband of the third family with two consecutive stroke-like episodes and typical MRI findings. Mutations described here cause an odd number of cysteines in the N-terminal of the EGF domain of Notch3 protein, which seems to have an important functional effect in the pathophysiology of CADASIL. The phenotypic variability in families carrying the same molecular defect as presented here makes the prediction of prognosis inconceivable. Although DNA analysis is effective and valuable in diagnosing approximately 90% of the CADASIL patients, lack of genotype-phenotype correlation and prognostic parameters makes the presymptomatic genetic counseling very difficult.

Adult↗
PubMed2006

Fatigue and sleep disturbance in multiple sclerosis.

Considering the association of sleep disturbance and fatigue in multiple sclerosis (MS), we investigated the presence of sleep disturbances that may be related to fatigue by using objective and subjective measures. We included 27 MS patients with fatigue, 10 MS patients without fatigue and 13 controls. The Pittsburgh sleep quality index score showed significant differences between patient groups and controls. Beck depression inventory scores were significantly higher in fatigued than non-fatigued patients. Comparison of patient groups and controls revealed significant differences for time in bed, sleep efficiency index, sleep continuity index, wake time after sleep onset, total arousal index and periodic limb movement arousal index. Our study confirms that MS causes sleep fragmentation in terms of both macro and microstructure. Fatigue in MS could be partially explained by disruption of sleep microstructure, poor subjective sleep quality and depression.

Adult↗
PubMed2005

Real-time three-dimensional echocardiography: a novel technique to quantify global left ventricular mechanical dyssynchrony.

BACKGROUND: Left ventricular (LV) mechanical dyssynchrony (LVMD) has emerged as a therapeutic target using cardiac resynchronization therapy (CRT) in selected patients with chronic heart failure. Current methods used to evaluate LVMD are technically difficult and do not assess LVMD of the whole LV simultaneously. We developed and validated real-time 3D echocardiography (RT3DE) as a novel method to assess global LVMD. METHODS AND RESULTS: Eighty-nine healthy volunteers and 174 unselected patients referred for routine echocardiography underwent 2D echocardiography and RT3DE. RT3DE data sets provided time-volume analysis for global and segmental LV volumes. A systolic dyssynchrony index (SDI) was derived from the dispersion of time to minimum regional volume for all 16 LV segments. Healthy subjects and patients with normal LV systolic function had highly synchronized segmental function (SDI, 3.5+/-1.8% and 4.5+/-2.4%; P=0.7). SDI increased with worsening LV systolic function regardless of QRS duration (mild, 5.4+/-0.83%; moderate, 10.0+/-2%; severe LV dysfunction, 15.6+/-1%; P for trend <0.001). We found that 37% of patients with moderate to severe LV systolic dysfunction had significant dyssynchrony with normal QRS durations (SDI, 14.7+/-1.2%). Twenty-six patients underwent CRT. At long-term follow-up, responders demonstrated reverse remodeling after CRT with a significant reduction in SDI (16.9+/-1.1% to 6.9+/-1%; P<0.0001) and end-diastolic volume (196.6+/-17.3 to 132.1+/-13.5 mL; P<0.0001) associated with an increase in LV ejection fraction (17+/-2.2% to 31.6+/-2.9%; P<0.0001). CONCLUSIONS: RT3DE can quantify global LVMD in patients with and without QRS prolongation. RT3DE represents a novel technique to identify chronic heart failure patients who may otherwise not be considered for CRT.

Computer Systems↗
PubMed2005

Moderate mitral stenosis in pregnancy: the haemodynamic impact of diuresis.

A case of asymptomatic, newly diagnosed, moderate mitral stenosis in a 27 year old pregnant woman is described. A conservative management strategy with regular cardiac assessment was adopted and the patient remained well. Routine transthoracic echocardiography at 36 weeks' gestation showed the development of severe pulmonary hypertension with right ventricular pressure overload, which was successfully treated with oral diuretics resulting in rapid normalisation of pulmonary pressure. Mitral stenosis in pregnancy and its management in pregnancy are briefly discussed.

Adult↗
PubMed2004

MRI findings in pediatric neuro-Behçet's disease.

Behçet's disease (BD), a systemic vasculitis of unknown cause, affects many organs and systems. Neurological involvement is seen in 5-15% of the patients, and the two major forms of neurological disease seen in BD are central nervous system (CNS) parenchymal involvement and cerebral venous sinus thrombosis. We report a 14-year-old boy with BD who had neuro-parenchymal involvement. The diagnosis of the systemic disease was not made until the onset of the neurological manifestations, which led to an MRI study that revealed findings suggestive of CNS involvement of BD. We therefore emphasize the importance of the localization and appearance of other characteristics of the lesions on MRI in the differential diagnosis of parenchymal neuro-Behçet syndrome.

Adolescent↗
PubMed2004

Cerebral venous thrombosis is associated with major vessel disease in Behçet's syndrome.

OBJECTIVE: To examine the association between the type of central nervous system (CNS) involvement (parenchymal disease and cerebral venous thrombosis (CVT)) and extra-cranial large vessel events, mainly venous thrombosis, in Behcet's syndrome (BS). METHODS: Conventional venous angiograms, Doppler ultrasonography, computed tomography, and MR angiography were used to study 88 patients with BS, with (n = 88) and without (n = 80) CNS disease for the presence of major vessel disease. RESULTS: Major vessel involvement among the male patients with and without CNS disease (21/73 (29%) v 18/80 (23%), respectively) showed no significant differences (p = 0.374). When patients with CNS disease were stratified according to the type of CNS involvement, 7/11 (64%) patients with CVT had major vessel disease compared with 15/77 (19%) patients with parenchymal disease (p = 0.004). The mean (SD) age of onset of CVT (23.1 (8.8) years) among the male patients was significantly earlier than among the men with parenchymal disease (32.0 (7.5); p = 0.002). CONCLUSIONS: CVT in BS was strongly associated with peripheral major vessel disease and occurred earlier in the disease course than the parenchymal type of CNS disease. As superficial thrombophlebitis also occurs more frequently in patients with major vessel disease in BS, this may suggest a common pathogenic mechanism.

Adult↗
PubMed2003

The sensitivity and specificity of the case definition criteria in diagnosis of headache: a school-based epidemiological study of 5562 children in Mersin.

The objectives of the present study were to estimate the prevalence of recurrent headaches in schoolchildren (ranging from 2nd to 5th degrees) in Mersin city of Turkey and to determine the sensitivity, specificity, positive predictive value and positive likelihood ratio of the diagnostic headache characteristics in children with migraine and Tension Type Headache (TTH) using neurologist's diagnosis as the gold standard. The stratified sample of study was composed of 5562 children. The prevalence of recurrent headache was 49.2% (2739 of 5562) and the prevalence of current headache was 31.3% (859 of 2739). TTH was more common than migraine (24.7% vs. 10.4%). The most sensitive headache characteristic for migraine was 'severity of pain' and the most sensitive definitive symptom is 'duration of headache' in children with TTH. IHS-based symptom definition criteria are highly beneficial in diagnosis of childhood headache, if used together with detailed clinical assessment.

Adolescent↗
PubMed2002

The sensitivity and specificity of the case definition criteria in diagnosis of headache: a school-based epidemiological study of 5562 children in Mersin.

The objectives of the present study were: (i) to estimate the prevalence of recurrent headaches in schoolchildren (ranging from 2nd to 5th degrees) in Mersin city of Turkey; (ii) to determine the sensitivity, specificity, positive predictive value and positive likelihood ratio of the diagnostic headache characteristics in children with migraine and tension-type headache (TTH) using neurologist's diagnosis as the gold standard. The stratified sample of study was composed of 5562 children. The prevalence of recurrent headache was 49.2% (2739 of 5562) and the prevalence of current headache was 31.3% (859 of 2739). TTH was more common than migraine (24.7% vs. 10.4%). The most sensitive headache characteristic for migraine was 'severity of pain' and the most sensitive definitive symptom was 'duration of headache' in children with TTH. International Headache Society-based symptom definition criteria are highly beneficial in diagnosis of childhood headache, if used together with detailed clinical assessment.

Adolescent↗
PubMed2002

Arthritis during interferon beta-1b treatment in multiple sclerosis.

Interferon beta (IFN-beta) is the most widely prescribed disease-modifying drug for multiple sclerosis (MS). Therapy with IFN-beta may be associated with a number of adverse reactions The development or exacerbation of other autoimmune diseases is a rare but reported side effect of IFN-beta therapy. In this case report, we present clinical and laboratory findings of two MS patients who developed arthritis during IFN-beta1b treatment, probably of autoimmune origin.

Adjuvants, Immunologic↗
PubMed2001

Vasculitis of the nervous system.

Vasculitis is inflammation of the blood vessels, which may involve either the central nervous system (CNS), or the peripheral nervous system (PNS), or both. This involvement may be primary and restricted to the CNS, and rarely to the PNS."Primary angiitis of the CNS" is the term used to describe isolated CNS involvement by vasculitis, in which neither the clinical presentation and behaviour of the disease, nor the histopathology is uniform. This heterogeneity indicates a spectrum, depending on the type and extent of the vascular involvement seen within the CNS, covering a group of disorders, rather than a single disease. This may explain the different prognosis and response to treatments. In clinical practice vasculitis of the nervous system, secondary to a known cause or underlying disease is more commonly seen than as a primary disorder. Primary systemic vasculitides and connective-tissue disorders, Behçet's Disease, lymphoproliferative diseases and other malignancies, some infections and related conditions, drugs and substance abuse are some of the conditions known to cause vasculitis in the nervous system. There is a broad variety of pathogenetic mechanisms. Both the CNS and the PNS may be involved, either separately or together.

Connective Tissue Diseases↗
PubMed2001

Behçet's disease: diagnostic and prognostic aspects of neurological involvement.

This study was conducted to describe clinical and prognostic aspects of neurological involvement in Behçet's disease (BD). Patients referred for neurological evaluation fulfilled the criteria of the International Study Group for Behçet's Disease. We analyzed disability and survival by the Kaplan-Meier method, using Kurtzke's Extended Disability Status Scale (modified for BD) and the prognostic effect of demographic and clinical factors by Cox regression analysis. We studied 164 patients; of the 107 diagnostic neuroimaging studies: 72.1% showed parenchymal involvement, 11.7% venous sinus thrombosis (VST) and the others were normal. CSF studies were performed in 47 patients; all with inflammatory CSF findings (n = 18) had parenchymal involvement. An isolated increase in pressure was compatible with either VST or normal imaging. The final diagnoses were VST (12.2%), neuro-Behçet syndrome (NBS) (75.6%), isolated optic neuritis (0.6%), psycho-Behçet syndrome (0.6%), and indefinite (11%). VST and NBS were never diagnosed together. Ten years from onset of BD 45.1% (all NBS) reached a disability level of EDSS 6 or higher, and 95.7 +/- 2.1% of the patients were still alive. Having accompanying cerebellar symptoms at onset or a progressive course is unfavorable. Onset with headache or a diagnosis of VST is favorable. Two major neurological diagnoses in BD are NBS and VST. These are distinct in clinical, radiological, and prognostic aspects, hence suggesting a difference in pathogenesis.

Behcet Syndrome↗
PubMed2001

Hepatitis B vaccine related-myelitis?

We present four incidental cases that developed partial myelitis following the administration of hepatitis B vaccine in 1998. The first two cases, a 33-year-old man and a 42-year-old woman developed progressive sensory symptoms without motor involvement within 4 weeks following the vaccination. Their magnetic resonance imaging (MRI) disclosed similar lesions consistent with myelitis at their cervical spinal cord. A comparable inflammatory lesion was seen at the T9-T10 levels of the spinal cord in the third case, who was a 40-year-old woman presenting with numbness in her legs and urinary retention following the vaccination. The fourth case who was a 42-year-old woman, presented with sensory symptoms in her left extremities, which developed 3 months after the vaccination. Her MRI showed a hyperintense lesion at C6. She also had two tiny lesions in her cranial MRI. In all cases, there was no history of preceding infections and no clinical evidence suggestive of any other disorders that may cause myelopathy. All patients recovered completely within 3 months with the exception of the third patient who developed new neurological symptoms after 12 months. Similar clinical and imaging presentation of myelitis following hepatitis B vaccination within a 1 year period with no other demonstrable clinical and laboratory evidence for any other disorder raise the probability of a causal link between these two events.

Acute Disease↗
PubMed2001

Baló's concentric sclerosis: clinical and radiologic features of five cases.

Baló's concentric sclerosis (BCS) is a rare demyelinating disease considered to be a variant of multiple sclerosis. Five BCS cases were diagnosed antemortem based on their typical concentric mass patterns on MR images and based on clinical and CSF findings. Histopathologic investigation was also performed in one case. Our case report supports the concept that BCS may be a self-limited disease that is not always fatal. Characteristic MR imaging findings may allow antemortem diagnosis of BCS when performed at the onset of the disease.

Adolescent↗
PubMed2000

Behçet's Disease.

Clinical and imaging data suggest that Behçet's disease (BD) can present with a variety of neurologic complications, which may be subclassified into two forms. One is attributable to small venous inflammatory disease with focal or multifocal central nervous system involvement and is seen in the majority of patients. It is designated Central Nervous System-Neuro-Behçet syndrome (CNS-NBS). The other form is due to cerebral venous sinus thrombosis and has limited symptoms and a better prognosis. It is very uncommon for these two types of involvement to occur in the same individual. It is very likely that the two major forms have different pathogeneses. Patients with small vein inflammation should be considered for aggressive treatment. A substantial number of patients in this group will have a relapsing-remitting course; for some, this will evolve into a secondary progressive course. A few patients from this group will have progressive CNS dysfunction from the onset. Acute attacks of CNS-NBS are treated with either oral prednisone (1 mg/kg/d up to 4 weeks or until improvement is observed) or high-dose intravenous methylprednisolone (IVMP), 1 g/d for 5 to 7 days. After either treatment, an oral tapering dose of glucocorticoids should be given over 2 to 3 months to avoid early relapses. Some patients may require the long-term use of low maintenance doses of glucocorticoids to prevent exacerbations. Immunosuppressive agents (eg, azathioprine, cyclosporine A, cyclophosphamide, and chlorambucil), given either alone or in different combinations (eg, azathioprine with cyclosporine) for the long-term treatment of various systemic manifestations of BD, have not been shown to prevent the development of the neurologic complications of the disease, reduce its exacerbations, or stop its progression. Immunomodulatory treatments such as interferon alfa and thalidomide have been shown to be effective in treating some of the systemic manifestations of BD, but there is no information on their effects on the development and progression of CNS-NBS. Cerebral venous sinus thrombosis in BD is treated with either intravenous unfractionated heparin or subcutaneous low-molecular-weight heparin given together with a short course of glucocorticoids. Evidence of benefit from this treatment, however, is weak.

Journal Article↗
PubMed1998

Thalidomide in the treatment of the mucocutaneous lesions of the Behçet syndrome. A randomized, double-blind, placebo-controlled trial.

BACKGROUND: Recurrent oral and genital ulcers are the most frequent problem in the management of the Behçet syndrome. Uncontrolled experience suggests that thalidomide may help prevent recurrences of these ulcers. OBJECTIVE: To determine the efficacy of two thalidomide dosages in the treatment of mucocutaneous lesions of the Behçet syndrome. DESIGN: Randomized, double-blind, placebo-controlled trial. SETTING: Specialist outpatient clinic for the Behçet syndrome in Turkey. PATIENTS: 96 male patients with the Behçet syndrome who primarily had mucocutaneous lesions without major organ involvement. INTERVENTION: Thalidomide, 100 mg/d or 300 mg/d, or placebo for 24 weeks. MEASUREMENTS: Sustained absence of any oral and genital ulceration during treatment (complete response) and changes in the number of mucocutaneous lesions. An additional evaluation was done 4 weeks after treatment ended. RESULTS: A complete response occurred in 2 of the 32 patients (6% [95% CI, 0.8% to 20.8%]) receiving thalidomide, 100 mg/d; in 5 of the 31 patients (16% [CI, 5.5% to 33.7%]) receiving thalidomide, 300 mg/d; and in none of the 32 patients (0% [CI, 0% to 10.9%]) receiving placebo (P = 0.031). The suppressive effect of thalidomide with either dosage was evident at 4 weeks for oral ulcers (P < 0.001) and at 8 weeks for genital ulcers (P < 0.001) and follicular lesions (P = 0.008). This effect persisted during treatment but diminished rapidly after treatment was discontinued. Both thalidomide dosages led to significant increases in the number of erythema nodosum lesions during the first 8 weeks of treatment (P = 0.03). Polyneuropathy developed in 4 patients (1 in the 100-mg/d group and 3 in the 300-mg/d group); in 3 of these patients, the condition was diagnosed after the trial had ended. CONCLUSIONS: Thalidomide is effective for treating the oral and genital ulcers and follicular lesions of the Behçet syndrome. A dosage of 100 mg/d is as effective as a dosage of 300 mg/day.

Adolescent↗
PubMed1998

Corticosteroid therapy augments gastroduodenal permeability to sucrose.

OBJECTIVE: The aim of the present study was to investigate whether corticosteroid therapy alters gastroduodenal mucosal permeability and whether permeability alteration is associated with macroscopic mucosal damage. METHODS: Eight patients taking oral corticosteroid therapy (total prednisone-equivalent dose, 1.5+/-0.1 g; duration, approximately 30 days), nine patients with multiple sclerosis taking high-dose intravenous methyl-prednisolone therapy (total dose, 11.7+/-0.5 g; duration, approximately 9 days), and 20 age- and gender-matched controls were studied. Gastroduodenal permeability was determined using sucrose as a site-specific permeability probe. Five-hour urine was collected after ingesting 100 g of sucrose and its urinary excretion rate was measured using high-pressure liquid chromatography. Gastroduodenal endoscopy was performed before steroid therapy to exclude subjects with evidence of macroscopic mucosal lesions. The sucrose test and endoscopy were repeated after completion of corticosteroid therapy. RESULTS: The urinary sucrose excretion rates were similar in the control group and in patient groups before corticosteroid therapy. The median excretion rate of sucrose increased four (one to 28)- and eight (two to 35)-fold, respectively, as compared with pretreatment values in patients taking oral steroid and high-dose intravenous methyl-prednisolone therapy (p < 0.01). Considering all patients together, subjects who received a mean prednisone-equivalent dose of 8.4+/-1.5 g exhibited mucosal lesions, whereas patients who received 3.3+/-1.8 g did not (p = 0.06). The post-therapy increments in sucrose excretion rates were associated with neither the presence of macroscopic lesions nor with the total steroid dose received. CONCLUSIONS: Corticosteroid therapy augments gastroduodenal permeability and high doses are associated with macroscopic mucosal lesions. Steroid-induced permeability increase does not appear to be associated with the presence of macroscopic mucosal lesions.

Administration, Oral↗
PubMed1998

Survival and predictors of disability in Turkish MS patients. Turkish Multiple Sclerosis Study Group (TUMSSG).

OBJECTIVE: To examine the natural history, survival, and prognostic factors in a sample of Turkish MS patients. METHOD: This multicenter study included 1,259 definite MS patients diagnosed according to the criteria of Poser et al. Actuarial analysis of selected disability levels of 3, 6, 8, and 10 achieved with the Expanded Disability Status Scale (EDSS); a multivariate Cox regression analysis for prognostic factors related to time to reach EDSS > or = 6; and Pearson's correlation coefficient for individual factors were performed. RESULTS: The survival (+/- SE) at 15 years from onset was 94.6 +/- 2.9%, and at 25 years was 89.0 +/- 5.8%. The disability reached by 15 years was EDSS > or = 3 in 66.4%, EDSS > or = 6 in 41.2%, EDSS > or = 8 in 10.5%, and EDSS = 10 in 5.4%. The most significant unfavorable prognostic factors were progressive course (relative risk [RR], 3.73; CI, 2.71 to 5.13) and sphincter symptoms at onset (RR, 1.86; CI, 1.23 to 2.82), followed by male sex, motor symptoms at onset, and a high attack frequency within the first 5 years. Primary progressive disease was correlated positively with male sex (r = 0.0895, p = 0.001), older age (r = 0.1807, p = 0.000), and motor (r = 0.1433, p = 0.000) or sphincter symptoms (r = 0.1001, p = 0.000) at onset, unlike relapsing-remitting and secondary progressive disease. CONCLUSIONS: Although a slightly better prognosis is observed in the Turkish MS population, early prognostic factors are similar to most of the previous Western series. Primary progressive disease, mostly seen in older men with motor and sphincter involvement at onset, has a worse prognosis and may represent a distinct behavioral variant of MS.

Adolescent↗