Arterial hypertension as a risk factor for chronic symmetric polyneuropathy.

OBJECTIVE: To assess whether arterial hypertension (AH) is an independent risk factor for chronic symmetric polyneuropathy (CSP) in the elderly. BACKGROUND: A strong relationship has been detected between AH and distal symmetric polyneuropathy in insulin-dependent and non-insulin-dependent diabetes. However, the correlation between AH and polyneuropathy caused by other clinical conditions has not yet been studied. METHODS: Four thousand one hundred and ninety-one subjects aged > or = 55 years seen in office consultations by 25 general practitioners (GPs) from two separate areas in Italy were interviewed, using a pretested semistructured questionnaire covering conditions commonly associated with neuropathy and symptoms of peripheral nerve disease. A neurologist later visited individuals with > or = 2 symptoms of polyneuropathy and a diagnosis of CSP was made in the presence of bilateral, fairly symmetric impairment of at least two among strength, sensation and tendon reflexes. AH was ascertained when known to the GP and/or if the patient was being treated with antihypertensive drugs. RESULTS: One hundred and fifty one subjects had CSP (3.6%). Diabetes was the commonest associated condition (18%). AH was present in 47 patients with CSP (31%). The odds ratio (OR) of AH in patients with CSP was 4.5 [95% confidence interval (CI) 3.1-6.6]. The OR of AH was 3.2 (95% CI 1.5-6.9) in patients with diabetes, and 5.7 (95% CI 3.6-9.3) in those without diabetes. The OR of AH was 4.8 (95% CI 4.4-5.2) after adjusting for the commonest risk factors for CSP. CONCLUSION: AH may be an independent risk factor for CSP in the elderly.

The international classification of the epilepsies and epileptic syndromes. An algorithm for its use in clinical practice.

An algorithm has been structured as a guided reading of the international league against epilepsy (ILAE) syndromic classification to be used in clinical practice by less experienced physicians in newly diagnosed patients. The algorithm followed the original structure of the classification, which identifies major syndromic groups, subgroups, and specific syndromes. Validation required two raters, a resident and a board-certified neurologist, to apply the algorithm with different techniques (direct or recorded interview, medical record consultation) to 19 children and 18 adults with epilepsy with information available at the time of diagnosis. The two raters' diagnoses were compared with those of the caring physicians, and cases where disagreement arose were discussed in conference to achieve consensus. The kappa statistic was used as a measure of inter-rater agreement. Caring physicians and both raters agreed in 51% of cases. Substantial agreement (kappa = 0.75) was obtained between the resident and the neurologist on major diagnostic groups and subgroups, mostly in adults. Agreement with the caring physician was slightly more satisfactory for the resident (kappa=0.67) than for the neurologist (kappa = 0.60). Agreement was better with direct or indirect interview than with record consultation, and improved further after discussion. Agreement was obtained after discussion in 32% of cases, in some of which the caring physician agreed on the resident's diagnosis. Agreement was less satisfactory for specific syndromes. On this basis, an algorithm of the ILAE classification is a fairly reliable instrument only for making a broad syndromic classification of epilepsy at the time of diagnosis. The limits of the algorithm tend mostly to reflect the intrinsic limitations of the classification itself.

[Central core disease. Report of 2 cases in adults]. / "Central core disease". Osservazione di due casi in età non infantile.

"Central core disease" (CCD) is a rare disease of infancy and childhood and represents the prototypic member of a group of muscular disorders known as "congenital, benign (non progressive) myopathies". It is very uncommon to diagnose cases affected by CCD in youth and adulthood. The disease is mainly familial with a dominant autosomal pattern of inheritance, but sporadic cases are known to occur. The candidate gene has been localized on chromosome 19q13.1, and is allelic with RYR-1 ("ryanodine receptor" [calcium release channel gene]), the gene responsible of the susceptibility to malignant hyperthermia. In some familial cases of CCD a susceptibility to malignant hyperthermia was also recognized. The diagnosis is only made based on muscular biopsy, which documents some peculiar morphological abnormalities, i.e. focal losses of oxidative enzyme activities, exclusively in type I muscular fibres. The basis for the loss of such activities is represented by an almost total absence of mitochondria and sarcoplasmic reticulum in those focal regions of muscle fibres. Cores may be "structured" and "unstructured" based on the reactivity with myosin ATPases, which ultrastructurally means preservation or destruction of myofilaments. Both structured and unstructured cores qualify this disease in the same way. The authors have observed two cases of CCD in patients in their non infantile age. Both diagnoses were accomplished by means of muscular biopsy, and the results of their studies in both cases are herein presented and discussed.

Myasthenia gravis during interferon alfa therapy.

Patients treated with interferon alfa can develop autoantibodies and autoimmune diseases. We describe two patients who developed myasthenia gravis with abnormal levels of serum anti-acetylcholine receptor antibodies during interferon alfa-2b treatment for malignancies. One of these patients had myopathic findings on EMG and focal deficiency of cytochrome c oxidase on muscle biopsy.

Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings.

We describe clinical, morphological and biochemical findings of a patient with reducing body myopathy (RBM). This 15-year-old patient was affected by severe limb-girdle progressive myopathy with asymmetric distribution. Muscle biopsy showed many fibers with cytoplasmic polymorphic masses, which stained dark purple with modified Gomori's trichrome, associated with proliferation of cytoplasmic bodies. Cytoplasmic polymorphic masses showed marked reducing activity with menadione-nitro blue tetrazolium reaction. Ultrastructurally, there was great amount of highly electron-dense tubular-filamentous structures of 16-17 nm in diameter. Immunohistochemistry showed that many fibers were positive for desmin. Sodium dodecyl sulfate-electrophoresis disclosed an increase in two bands of approximately 53 and 70 kDa, and Western blot demonstrated that the 53-kDa band was desmin. It was not possible to characterize the 70-kDa protein further.

Polyneuropathy in an adult hospital population. Assessment of the prevalence through a simple screening procedure.

An epidemiological survey has been conducted during a 3-month period in the Regional Hospital of S. Giovanni Rotondo, a small city in Southern Italy. A total of 1,878 patients aged 12 years and over admitted to the hospital were randomized during the study period. Each patient was asked 7 specific questions focusing on symptoms most likely due to polyneuropathy. The sensitivity and specificity of the screening procedure were tested separately and found to be high. All cases who gave affirmative answers to at least 2 questions were carefully investigated in search of a polyneuropathy. Of the 20 cases which gave an affirmative answer to 2 or more questions, 19 (1% or 10 cases per 1,000 hospital population) had a neurological examination fitting with the diagnosis of polyneuropathy. There were 3 males and 16 females with a median age of 61 years. Diabetes was the commonest associated disorder. The disease ran a mild course in 12 cases and was severe in only 1. The screening model used in the current study seems a valuable and simple approach for case ascertainment in epidemiological investigations of polyneuropathy.