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Biomedical subjects

A Saiz

Publications and source records attributed to A Saiz.

At least 55 records · Page 3Linked to original sources
PubMed1998

[Diagnostic usefulness of glutamic acid decarboxylase antibodies in stiff-man syndrome].

Stiff-man syndrome (SMS) is a rare neurological disorder characterized by progressive rigidity of the axial musculature with superimposed spasms. Frequently, SMS remains undiagnosed for prolonged periods or the patients are diagnosed of a primary psychiatric disorder. 60% of the SMS patients harbor GAD-autoantibodies (GAD-Ab). We have analyzed the diagnostic value of GAD-Ab in a syndrome whose clinical expression is not well known, but its diagnosis is performed by clinical criteria. Five patients were studied following the established clinical criteria for diagnosis of SMS. GAD-Ab were analyzed by radioimmunoassay (RIA) and immunohistochemistry, and confirmed by immunoblot. The GAD-Ab titers were compared with those of 49 patients with insulin-dependent diabetes mellitus (IDDM), 322 with other neurological disorders, 14 non-IDDM first-degree relatives of IDDM patients with antibodies anti-islet cells and 91 normal subjects. Three patients fulfilled all clinical criteria (typical SMS). Unilateral limb symptoms alone, and acute onset with rapid progression involving the distal limb muscles constituted the atypical features of SMS in the remaining 2 patients. The 5 patients presented several serum organ-specific autoantibodies. All but one also presented autoimmune diseases. By RIA, GAD-Ab titers from all patients were elevated (mean: 24,532 +/- 26,892 U/ml) and significantly higher than the titers of IDDM patients without neurological disorders (mean: 48 +/- 112 U/ml) (p < 0.0001). GAD-Ab were absent in the non-SMS patients and in normal subjects. These findings suggest that clinical expression of SMS is more extensive than that recognized by the established criteria. GAD-Ab are helpful to define the clinical spectrum of SMS.

Aged↗
PubMed1998

Stiff-leg syndrome: a focal form of stiff-man syndrome.

We report on 2 patients who presented stiffness and spasms similar to those of stiff-man syndrome (SMS) that were limited to one leg for up to 11 years. Patients had serum glutamic acid decarboxylase (GAD) autoantibodies in high titer, clinical evidence of organ-specific autoimmunity, and electromyographic pattern of continuous motor unit activity with abnormally enhanced exteroceptive reflexes. The clinical and immunological profile suggests that this disorder may be a focal form of SMS.

Autoantibodies↗
PubMed1997

[Factors associated to aspirin failure for secondary stroke prevention].

BACKGROUND: It is not settled whether aspirin (ASA) failure may be predicted in stroke and transient ischemic attack (TIA) patients. The risk of ASA failure may be predicted by analyzing the epidemiological traits of patients with stroke or TIA. PATIENTS AND METHODS: We evaluated retrospectively 695 stroke or TIA patients admitted to the Downtown Barcelona Stroke Registry, including 54 patients who recurred while on 125-500 mg/day of ASA (group ASA failure), and 178 patients who showed a good clinical response to the same dose of ASA for at least one year of follow-up (group ASA sensitive). Vascular risk factors, stroke subtypes, and clinical and radiological findings were compared in both groups. RESULTS: On multivariate analysis ASA failure was independently correlated with history of myocardial infarction, nonvalvular atrial fibrillation or hypercholesterolemia. A trend toward age older than 65 was also correlated with ASA failure. On the contrary, periventricular lucencies were a protector factor. Stroke severity at clinical onset and at follow-up was unrelated to the intake of ASA at stroke onset. CONCLUSIONS: Males or females older than 65 years, with a history of coronary heart disease or atrial fibrillation, serum cholesterol level > 240 mg/dl, and a CT scan showing no evidence of small vessel disease are, respectively, the characteristics most frequently encountered in patients who suffer an ischemic stroke despite preventive treatment with 125-500 mg/day of ASA. Moreover, this treatment does not reduce initial and long-term stroke severity.

Aged↗
PubMed1997

Periventricular white matter lucencies in patients with lacunar stroke. A marker of too high or too low blood pressure?

BACKGROUND: Periventricular white matter lucencies (PWML) have been described in stroke patients with arterial hypertension, hypotensive episodes, or increased nocturnal fall of blood pressure (BP). As a result of these mixed factors, the relationship between PWML and BP remains unsettled and the appropriate management of arterial BP in stroke patients with PWML is unknown. OBJECTIVE: To clarify the relationship between PWML, arterial BP, and cerebral hemodynamics. DESIGN: Cohort study followed up 6 months after index stroke. SETTING: Referral center. PATIENTS: In 41 consecutive patients with first-ever lacunar infarction, the extent of PWML detected on brain magnetic resonance images was measured. Six months after stroke, BP values were monitored during a 24-hour period and transcranial Doppler examinations were performed at rest and following the administration of acetazolamide. MAIN OUTCOME MEASURES: Correlation of cerebral hemodynamics and BP values with the extent of PWML. RESULTS: The severity of PWML varied substantially among patients, suggesting that PWML and lacunar infarctions could be due to several different mechanisms. Older age, elevated awake systolic BP, increased cerebrovascular tone, and the interaction between history of heart disease and the lowest heart rate were the strongest independent predictors of the severity of PWML. Diastolic BP and the vasodilatory capacity of the resistance vessels did not predict the severity of PWML. CONCLUSIONS: Overall, PWML are markers of systolic damage in older lacunar stroke patients with stiffer arteries. In addition, hemodynamic failure may be relevant in patients with concomitant heart disease.

Aged↗
PubMed1997

Autoantibodies to glutamic acid decarboxylase in three patients with cerebellar ataxia, late-onset insulin-dependent diabetes mellitus, and polyendocrine autoimmunity.

BACKGROUND: Glutamic acid decarboxylase (GAD) is the main target of humoral autoimmunity in stiff-man syndrome (SMS) and insulin-dependent diabetes mellitus (IDDM). GAD autoantibodies (GAD-Abs) are reported in a few patients with cerebellar ataxia, but their relevance is unclear. We describe three patients with cerebellar ataxia and GAD-Abs. METHODS: GAD-Abs were assayed by radioimmunoassay (RIA) and immunohistochemistry and confirmed by immunoblot of recombinant human GAD65. The GAD-Ab levels of the three patients with cerebellar ataxia were compared with those of five with SMS, 49 with IDDM, 64 with cerebellar ataxia of probable degenerative origin without associated autoimmune features, 14 non-IDDM islet cell antibody-positive first-degree relatives of IDDM patients, and 91 normal subjects. RESULTS: The three patients with ataxia and GAD-Abs were women (mean age, 63 years) with an isolated progressive cerebellar disorder, family history of IDDM, late-onset IDDM, and several positive serum organ-specific autoantibodies. Two patients had autoimmune thyroiditis, and one had pernicious anemia. CSF analysis demonstrated oligoclonal IgG bands and intrathecal synthesis of GAD-Abs. By RIA, GAD-Ab titers from the three patients were similar to those of SMS and significantly higher, without overlap, than the titers of IDDM patients. GAD-Abs were absent in the 64 patients with cerebellar ataxia and no evidence of autoimmune disorders. CONCLUSIONS: These findings suggest a link of GAD autoimmunity not only with SMS but also with cerebellar dysfunction. GAD-Abs should be sought in patients with cerebellar ataxia who have late-onset IDDM and other organ-specific autoimmune manifestations.

Adolescent↗
PubMed1996

Contribution of arterial blood pressure to the clinical expression of lacunar infarction.

BACKGROUND AND PURPOSE: The relation between symptomatic lacunar infarction, silent stroke, and arterial hypertension is controversial. METHODS: From 500 patients with ischemic or hemorrhagic stroke admitted to the Downtown Barcelona Stroke Registry between July 1992 and December 1994, we evaluated prospectively the prevalence of silent infarction in 249 patients who had a brain MRI. The association of risk factors with silent infarction was investigated with the use of logistic regression analysis. In a selected group of 43 patients with symptomatic lacunes, we performed at stroke follow-up transcranial Doppler sonography and 24-hour continuous blood pressure monitoring to evaluate whether blood pressure, cerebrovascular tone, and cerebral blood flow at rest and after the administration of 1 g acetazolamide correlated with silent infarction. RESULTS: A total of 147 silent infarctions were observed in 83 patients (33%). Most silent infarctions corresponded to small deep lesions in the territory of the lenticulostriate arteries. Patients with silent infarctions had higher systolic and diastolic blood pressure at stroke onset. However, on multivariate analysis, age greater than 60 years was the only risk factor associated with silent infarction. In a subgroup of 43 patients with symptomatic lacunes and patent extracranial vessels, systolic and diastolic pressure at stroke onset and diastolic pressure and vascular resistance at stroke follow-up were higher when silent infarctions co-existed. However, cerebral blood flow at rest and after acetazolamide injection were unrelated to silent infarction. CONCLUSIONS: Silent ischemia in patients with symptomatic lacunar and nonlacunar stroke was only associated with aging. However, a history of arterial hypertension was perhaps unrecognized, since hemodynamic testing and continuous blood pressure monitoring in patients with lacunar stroke suggested that the coexistence of silent lesions indicated a more generalized cerebral arteriolosclerosis.

Acetazolamide↗
PubMed1996

Neurologic complications of autologous and allogeneic bone marrow transplantation in patients with leukemia: a comparative study.

We retrospectively evaluated the neurologic complications in 425 patients who underwent bone marrow transplant (BMT) (310 allogeneic, 115 autologous) for leukemia. Forty-six patients (11%) developed 47 central and three peripheral neurologic complications. The most common complications were cerebral hemorrhage (3.8%), metabolic encephalopathy (3%), and CNS infections (2%). All CNS infections occurred with allogeneic BMT. Eleven of 16 hemorrhages were subdural hematomas (69%), which were more frequent in autologous (8%) than in allogeneic (0.6%) BMT (p < 0.0001), and in patients with acute myelogenous leukemia (AML) (5%) than in the remaining leukemia patients (0.8%) (p = 0.013). Eight of 11 subdural hematomas occurred in AML patients receiving autologous BMT. When we compared patient-, disease-, and transplant-related characteristics of these patients with those without subdural hematoma, only platelet refractoriness correlated with an increased risk of subdural hematoma. The actuarial probability of developing subdural hematoma was 44% in patients with platelet-refractory disease and only 2.5% in the other patients (p < 0.0001). Ten patients with subdural hematoma did not have surgery and eight had significant clinical improvement associated with reduction or resolution of the hematoma, confirmed by CT scan in six patients. The subdural hematoma was the cause of death in only one patient. This study shows that the frequency of the different neurologic complications varies among types of BMT. Patients undergoing autologous BMT for AML with platelet refractoriness have an increased risk of subdural hematoma that may be treated with conservative measures.

Adolescent↗
PubMed1996

Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion.

Wolfram syndrome (MIM 222300) is characterized by optic atrophy, diabetes mellitus, diabetes insipidus, neurosensory hearing loss, urinary tract abnormalities, and neurological dysfunction. The association of clinical manifestations in tissues and organs unrelated functionally or embryologically suggested the possibility of a mitochondrial implication in the disease, which has been demonstrated in two sporadic cases. Nonetheless, familial studies suggested an autosomal recessive mode of transmission, and recent data demonstrated linkage with markers on the short arm of human chromosome 4. The patient reported here, as well as her parents and unaffected sister, carried a heteroplasmic 8.5-kb deletion in mtDNA. The deletion accounted for 23% of mitochondrial genomes in lymphocytes from the patient and approximately 5% in the tissues studied from members of her family. The presence of the deletion in the patient in a proportion higher than in her unaffected parents suggests a putative defect in a nuclear gene that acts at the mitochondrial level.

Base Sequence↗
PubMed1995

Early prediction of stroke severity. Role of the erythrocyte sedimentation rate.

BACKGROUND AND PURPOSE: Early predictors of functional outcome after stroke are necessary for better planning of treatment and care. METHODS: We evaluated prospectively early clinical predictors of short-term functional outcome in a group of patients with ischemic cerebral infarction and explored whether the intensity of the acute-phase response provided further information concerning the short-term functional outcome. We evaluated a group of 208 ischemic stroke patients using the Mathew scale at entry. All patients had neuroimaging studies and routine blood tests, including erythrocyte sedimentation rate (ESR), within 72 hours from clinical onset. At discharge, functional outcome was graded according to a Stroke Outcome Scale. RESULTS: Larger infarcts, more embolic infarcts, and fewer lacunar infarcts were observed in the poor-outcome group. Vascular risk factors, radiological findings not related to the index stroke, time to admission, and treatment were similar in the two outcome groups. Variables with statistically significant differences between outcome groups included the following: age > 65 years, female sex, admission Mathew score < 75, worsening at clinical presentation, infarct volume > 6 cm3, complicating infections, fasting glucose > 110 mg, nonfasting glucose > 130 mg, and elevated ESR. With stepwise logistic regression analysis, Mathew score on admission, infarct volume, mode of clinical presentation, and ESR remained in the predictive model of stroke outcome, with a sensitivity and specificity of 89.91% and 85.71%, respectively. After removing the computed tomographic information from the model the same variables remained, with a sensitivity and specificity of 83.05% and 94.29%, respectively. CONCLUSIONS: Infarct size and clinical severity on admission are the stronger predictors of short-term functional outcome. Mode of clinical presentation, clinical evolution during the first day of stroke, and ESR are also independent predictors of short-term stroke outcome. These findings might be indicative of an inadequate collateral profile and/or a more pronounced prothrombotic state.

Adult↗
PubMed1995

Abnormal sensory nerve conduction in multifocal demyelinating neuropathy with persistent conduction block.

Two patients exhibited chronic, slightly asymmetric weakness and wasting with fasciculations of the upper limb and hand muscles. Motor nerve conduction studies showed features of multifocal conduction block in nerve segments other than those usually involved in entrapment syndromes. The F wave was markedly delayed in the median and ulnar nerves. Transcranial cortical and cervical root magnetic stimulation showed bilaterally delayed thenar responses with normal central conduction time. Needle electromyography demonstrated a chronic denervation pattern with large polyphasic motor units in several muscles of the upper limbs. Sensory symptoms were mild and limited to paresthesias in the fingertips. Sensory nerve conduction velocity and sensory nerve action potential amplitudes were normal in elbow-to-wrist and wrist-to-finger segments of the median and ulnar nerves, but there was a delayed cortical response and unrecognizable Erb's point and cervical responses in the somatosensory evoked potentials to median nerve electrical stimulation. Electrophysiologic examination was normal in most nerves of the lower limbs. These two patients, meeting clinical and electrophysiologic criteria of multifocal neuropathy with conduction block, demonstrate that sensory fibers may also be involved in this syndrome.

Action Potentials↗
PubMed1995

Early anticoagulation after large cerebral embolic infarction: a safety study.

OBJECTIVE: To assess whether hemorrhage after early anticoagulation in nonseptic embolic infarction is related to clinical severity and infarction size. BACKGROUND: Explicit clinical criteria and timing of anticoagulation after large embolic infarctions are unknown. METHODS: Out of 171 patients receiving anticoagulation between July 1992 and December 1993, 83 patients with hemispheric embolisms received heparin within 72 hours from onset (activated partial thromboplastin time [aPTT] 1.5 times control value). Stratified by age and sex, a "high-risk" group (46 patients) was defined as those having stroke symptoms involving three or more CNS domains, Mathew Scale score < or = 74, or hemorrhagic infarction on initial CT, and a "low-risk" group (37 patients) as those having stroke symptoms involving fewer than three cortical domains, or Mathew Scale score > 74, and CT showing no blood. Loss of consciousness, seizures, or history of bleeding were exclusion criteria. Repeated CTs (100%) and MRIs (36%) detailed infarctions according to standard maps and evaluated all unexplained clinical worsening. RESULTS: Prior to therapy, high-risk patients had more severe clinical deficits (p < 0.01), larger infarctions on CT (p < 0.01), and more mass effect (p < 0.01). Hemorrhagic conversion (26% in the high-risk group versus 22% in the low-risk group) and hemorrhagic worsening (4% in the high-risk group versus 13% in the low-risk group) were unrelated to admission clinical severity or infarction size, but they were related to an excessive prolongation of the aPTT (p < 0.01). CONCLUSIONS: Infarction size and clinical severity in alert patients with nonseptic embolic stroke carries no additional bleeding complications after early anticoagulation. If anticoagulants are deemed necessary, treatment delay seems unjustified. However, rigorous monitoring of the aPTT is strongly advised to keep the level at 1.5 to 2 times control values.

Aged↗
PubMed1995

[Wolfram's syndrome: correlation of clinical signs and neurological images].

Wolfram's syndrome is defined by the association of diabetes mellitus, diabetes insipidus, optic atrophy and nerve deafness. Other neurological anomalies, such as ataxia, nystagmus, tonic pupil, dizziness, dysarthria, dysphagia and epilepsy are rarely described and tend to appear later than the primary manifestations. We describe a patient with Wolfram's syndrome whose magnetic resonance image (MRI) of the head showed brainstem and cerebellar atrophy years before the appearance of clinical signs of brainstem disfunction. We conclude that alterations in MRI precede neurological symptoms by several years in Wolfram's syndrome.

Adult↗
PubMed1995

[Limb shaking and loss of consciousness: a carotid-basilar artery syndrome].

We describe the brain MRI and cerebral blood flow characteristics in a patient with hypertension, severe bilateral carotid artery disease and moderate vertebrobasilar atheromatosis. When standing, the patient experienced short repetitive episodes of loss of consciousness and involuntary shaking of the lower extremities. We believe that, in this patient, the combination of bilateral perfusion insufficiency through the carotid artery, the local effects of atheromatosis of the penetrating branches arising from the basilar artery and the systemic effects of orthostatic hypotension may have caused ischemic lesions in the terminal zones of the paramedian branches of the basilar artery.

Carotid Artery Diseases↗
PubMed1994

Laparoscopic ventral hernia repair.

Laparoscopic repair of ventral hernia can be done with advanced training. We present a case report with intraoperative photographs and description of the surgical technique.

Female↗