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Biomedical subjects

P Cortelli

Publications and source records attributed to P Cortelli.

At least 19 recordsLinked to original sources

Sleep--wake and body core temperature rhythms in multiple sclerosis with fatigue.

OBJECTIVE: To study sleep-wake and body core temperature (BCT) circadian rhythms in patients with multiple sclerosis (MS)-associated with chronic fatigue. METHODS: Six relapsing-remitting MS patients with chronic fatigue underwent 48 consecutive hours polysomnography (PSG) with BCT measurement, followed by a Multiple Sleep Latency Test (MSLT). All patients were relapse- and drug-free. Mood depression, brain and cervical cord enhanced MRI, dynamic spirometry and Fatigue Severity Scale (FSS) were assessed just before PSG. RESULTS: In all patients mood depression was absent and dynamic spirometry normal, but FSS confirmed fatigue. MRI showed non-enhancing lesions. Nocturnal sleep was characterized by normal architecture and mean sleep efficiency was only slightly reduced. Arousal index was normal and periodic limb movements during sleep (PLMS) were present in four patients, with an increased index (PLMS-I) in only two of them. Upon MSLT, mean sleep latency was normal in all patients with one sleep onset REM period in one patient. All patients displayed a normal BCT 24-h rhythm. Mesor, amplitude and acrophase of BCT rhythm did not show significant differences between MS and controls. CONCLUSIONS: We found substantially normal sleep-wake and BCT rhythmicity in six patients with MS and fatigue. Non-restorative sleep and abnormal BCT regulation were unlikely mechanisms of chronic fatigue in our MS patients. SIGNIFICANCE: Subjective fatigue and abnormal sleep and BCT can be independent manifestation in MS patients. The findings support the notion that objective measures of fatigue comparable to the MSLT for sleepiness do not exist.

Adult↗

Study of hypothalamic metabolism in cluster headache by proton MR spectroscopy.

The authors used 1H-MRS to investigate hypothalamic metabolism in 26 patients with cluster headache (CH) and 12 healthy subjects. Hypothalamic N-acetylaspartate/creatine was reduced in patients with CH vs controls (p < 0.01). Dividing the patients into episodic CH outside- and in-cluster periods and chronic CH, the hypothalamic N-acetylaspartate/creatine in all three subgroups of patients was reduced. The reduction of the neuronal marker N-acetylaspartate is consistent with hypothalamic neuronal dysfunction in patients with CH.

Acute Disease↗

Which therapy for which patient?

Prophylactic treatment is mainly intended to reduce the frequency of migraine attacks, enhance response to acute medications, improve patient function and reduce disability. Sufficient evidence and consensus exist to recommend propranolol, timolol, amitriptyline, pizotifen, divalproex, sodium valproate and topiramate as first line agents for migraine prevention. These drugs can halve the frequency of attacks in 50% of patients. The anticipated benefit must be weighed against the adverse effects associated with each agent in determining the optimal preventive regimen for individual patients considering any comorbid conditions that are often present. The decision to treat and the choice of prophylactic drug must be taken with the patient. It is important to balance expectations and therapeutic realities for each particular drug. Recent data on the effect of prophylactic treatment on trigeminovascular activation and on cortical spreading depression emphasise the importance of developing research on migraine-preventive drugs.

Adrenergic beta-Antagonists↗

Chronic daily headache: risk factors and pathogenetic considerations.

Chronic daily headache (CDH) is a major clinical concern, although it is still plagued by difficulties with classification and definitions. CDH usually evolves from an episodic headache, mainly migraine. Drug overuse and other somatic or psychological traits are considered risk factors for CDH. The neurobiology underlying this clinical evolution is incompletely understood. There is evidence of a progressive dysfunction of central pain systems in some individuals probably genetically predisposed.

Chronic Disease↗

Headache: clinical governance in health care management in the Emergency Department.

Headache is a common Emergency Department (ED) problem accounting for 1.7%-4.5% of patients every year. The main aim in the ED is to differentiate between primary and secondary headache. Although secondary headache represents the lowest percentage (20%) of ED patients presenting with headache, it can be life threatening. Patients with primary headache require a follow-up programme on discharge from the ED with a specialist headache clinic taking responsibility for these patients. This procedure was applied at Ravenna Hospital ED for 2 years and recorded (unpublished data) a reduction in the number of repeat visits to the ED for headache and the number of inappropriate admissions for headache (DRG 25).

Delivery of Health Care↗

Fatal cerebral haemorrhage after liver transplantation in a patient with transthyretin variant (gly53glu) amyloidosis.

Transthyretin (TTR) amyloidosis is a form of systemic amyloidosis caused by an amyloidogenetic TTR variant. The most common mutant forms of TTR are mainly produced by the liver and therefore orthotopic liver transplantation (OLT) is currently accepted as the only known curative treatment. We describe the clinical and pathological features of a patient with TTR variant (gly53glu) with TTR amyloid infiltration of the leptomeningeal vessels in whom fatal cerebral haemorrhage occurred two months after OLT, soon after severe viral pneumonia.

Adult↗

A genetic association study of dopamine metabolism-related genes and chronic headache with drug abuse.

To assess the role of dopamine metabolism-related genes in the genetic liability to chronic headache with drug abuse (DA). We performed a genetic association study using four functional polymorphisms of the dopamine receptor 4 (DRD4), dopamine transporter (DAT), mono-amino-oxidase A (MAOA) and cathecol-O-methyl-transferase (COMT) genes in 103 patients with chronic daily headache associated with DA (CDHDA). Control samples were 117 individuals without headache or DA (controls) and 101 patients with episodic migraine without aura and without DA (MO). No differences were found at the COMT and MAOA genes among the three groups investigated. Allele 4 of DRD4 was significantly overrepresented in patients with MO compared with both controls and CDHDA. Allele 10 of the DAT gene was significantly underrepresented in patients with CDHDA when compared with the MO group. Genetic variability at the DRD4 gene is involved in the predisposition to episodic MO but not to DA, while liability to CDHDA may involve genetic variability at the DAT gene in comparison with episodic MO.

Adult↗

EFNS guidelines on the diagnosis and management of orthostatic hypotension.

Orthostatic (postural) hypotension (OH) is a common, yet under diagnosed disorder. It may contribute to disability and even death. It can be the initial sign, and lead to incapacitating symptoms in primary and secondary autonomic disorders. These range from visual disturbances and dizziness to loss of consciousness (syncope) after postural change. Evidence based guidelines for the diagnostic workup and the therapeutic management (non-pharmacological and pharmacological) are provided based on the EFNS guidance regulations. The final literature research was performed in March 2005. For diagnosis of OH, a structured history taking and measurement of blood pressure (BP) and heart rate in supine and upright position are necessary. OH is defined as fall in systolic BP below 20 mmHg and diastolic BP below 10 mmHg of baseline within 3 min in upright position. Passive head-up tilt testing is recommended if the active standing test is negative, especially if the history is suggestive of OH, or in patients with motor impairment. The management initially consists of education, advice and training on various factors that influence blood pressure. Increased water and salt ingestion effectively improves OH. Physical measures include leg crossing, squatting, elastic abdominal binders and stockings, and careful exercise. Fludrocortisone is a valuable starter drug. Second line drugs include sympathomimetics, such as midodrine, ephedrine, or dihydroxyphenylserine. Supine hypertension has to be considered.

Diagnosis, Differential↗

Pharmacogenetics of headache treatment.

Headaches and migraines are widely prevalent diseases causing relevant disability and worsened quality of life. Several pharmacological options are available for headache therapy, mostly however without firm rationales and all having high rates of non-responders and often serious side effects. Variability of therapeutic effect and adverse events depend at least in part upon genetic variability, but the genetic factors involved are mostly unknown. Pharmacogenetics, i. e., the application of the knowledge of genomic diversity to the analysis of the phenotypic traits involved in therapeutic response and adverse events, is still in its infancy, but represents a promising approach to therapy in migraine. The extant evidence is summarised here, with special attention to pain therapy and the pharmacogenetics of the serotonergic and the dopaminergic systems.

Dopamine↗

Autonomic nervous system laboratories: a European survey.

We present a questionnaire-based survey on methods adopted in European autonomic nervous system (ANS) laboratories in the year 2002. Seventy-nine laboratories from 16 countries in Western and Eastern Europe provided information on test methods, equipment, staff, educational programme and research activities. The results confirmed the anticipated heterogeneity of techniques used to investigate ANS disorders. However, cardiovascular (84.8%) and sudomotor (43.0%) tests were the most common. There were no standards regarding equipment, but devices used varied widely, in part commercially available, in part self-developed. Some ANS laboratories performed cardiovascular tests using standard EMG devices with implemented routines to measure heart rate variability. Many investigators used published normative data (75.4%). Most of the responders were involved in scientific work, half were active in education of trainees. A wide variation was found in number and profession of staff members. As more than 60% of questionnaires were returned by neurologists our results may be limited to neurological ANS laboratories. Given the wide variation of methods and equipment used in European ANS laboratories, minimal standards for routine ANS testing are desirable. Standards may help to compare results of diagnostic tests, evaluate equipment and test laboratory methods and commercial devices and set-up educational programmes.

Autonomic Nervous System↗

Generalised anhidrosis: different lesion sites demonstrated by microneurography and skin biopsy.

Generalised anhidrosis (GA) shows a uniform clinical picture whether the pathogenesis involves intrinsic abnormalities of sweat glands or postganglionic sympathetic cholinergic nerve dysfunction. We describe two patients who presented intolerance to heat and anhidrosis. In the first patient, symptoms started at 33 years of age, and were associated with absent tendon reflexes and a mydriatic right pupil unreactive to light. The other patient had been unable to sweat since birth. GA was diagnosed on the basis of clinical findings and thermoregulatory tests. Microneurography and morphological analysis of the skin and its innervation disclosed a different lesion site underlying GA in the two patients, and distinguished between a postganglionic autonomic nerve fibre lesion and sweat gland dysfunction.

Adult↗

Studies on homocysteine and dehydroepiandrosterone sulphate plasma levels in Alzheimer's disease patients and in Parkinson's disease patients.

Homocysteine (HC) and dehydroepiandrosterone sulphate (DHEAS) plasma levels have been evaluated in groups of male and female patients with Parkinson's disease (PD) and in a group of female patients with Alzheimer's disease (AD) and compared with the corresponding plasma levels observed in a group of age-matched subjects. It has been confirmed that HC plasma levels are enhanced in both PD and AD patients. As far as the DHEAS plasma levels are concerned no changes have been observed in PD patients while a marked decrease has been observed in AD patients. These results support the view that while the pro-oxidant effects of HC and its agonist action at NMDA receptors can play a role in both neurodegenerative diseases, the role of DHEAS is more complex and may be an important factor only in certain neurodegenerative diseases. Thus, according to the present study DHEAS is likely to be involved in AD but not in PD.

Aged↗

The role of cardiac diseases in the comorbidity between migraine and stroke.

Several case-control and cohort studies have suggested an association between migraine and stroke. A significantly higher risk for stroke was found in women under the age of 45 years and for the subgroup with migraine with aura, the posterior circulation being significantly more frequently involved. The link between cardiac diseases and the comorbidity migraine-stroke has been evaluated considering both possible relationships: a higher prevalence of a vascular disease involving both heart and brain in migraineurs, or a cardiac disorder, more prevalent in migraineurs, with a possible aetiological role in migraine attacks.

Aortic Aneurysm↗

Headache and hypertension.

Headache is generally regarded as a symptom of high blood pressure in spite of conflicting opinions on the association of headache and arterial hypertension. Most studies have shown that mild chronic hypertension and headache are not associated and this demonstration needs to be implemented in clinical practice. Whether moderate hypertension predisposes to headache remains controversial, but there is little evidence that it does. Headaches caused by significant disturbances in arterial pressure are included in the section "Headache attributed to a disorders of homeostasis" (code 10.3) of the 2nd edition of the International Classification of Headache disorders.

Adrenal Gland Neoplasms↗

Spontaneous low cerebrospinal pressure: a mini review.

Spontaneous intracranial hypotension (SIH) is a syndrome of low cerebrospinal fluid (CSF) pressure characterised by postural headaches in patients without any history of dural puncture or penetrating trauma. Described by Schaltenbrand in 1938, SIH is thought to result from an occult CSF leak resulting in decreased CSF volume and, consequently, in low CSF pressure. Magnetic resonance imaging of the head and spine has improved the diagnosis of the syndrome showing peculiar radiographic abnormalities including diffuse pachymeningeal enhancement, subdural fluid collections and downward displacement of the cerebral structures. Treatment of SIH headache should start with conservative, non-invasive therapies while epidural blood patch has emerged as the treatment of choice for those symptomatic patients who have failed medical noninvasive approaches.

Cerebrospinal Fluid Pressure↗

Does headache represent a clinical marker in early diagnosis of cerebral venous thrombosis? A prospective multicentric study.

The main aim of this study is to look for early clinical markers of cerebral venous thrombosis (CVT). As headache represents the major clinical manifestation at presentation we focused our attention on this symptom. We present the preliminary results of a prospective multicentric study that includes cases diagnosed as CVT in the participating centres. We have so far studied 35 patients (5 males and 30 females) from the ages of 18 to 78. The most frequent manifestation was headache (77.1%). It was more frequently localised (66.7%) and continuous (77.8%). The onset of pain was mostly acute-subacute (38.5%-50.0%) and the intensity moderate-severe (37.0%-51.9%). On univariate analysis, we found a positive correlation between CVT, acute headache onset (p=0.001) and severe headache (p=0.004). These preliminary results seem in accordance with our previous findings in the retrospective study, suggesting that CVT is more often associated with acute-onset headache of severe intensity.

Acute Disease↗

Vasovagal syncope interrupting sleep?

Clinical data are reported for 13 patients who were referred with recurrent loss of consciousness at night interrupting their sleep. Most of the patients were women (10 of 13) with a mean age of 45 years (range 21-72 years). The histories were more consistent with vasovagal syncope than with epilepsy. This was supported by electroencephalographic and tilt test results. More polysomnographic monitoring data are required to confirm the diagnosis of vasovagal syncope interrupting sleep. This will be difficult because, although the condition may not be rare, the episodes are usually sporadic.

Adult↗