Telomerase activity as a prognostic indicator in stage I non-small cell lung cancer.

Patients with stage I non-small cell lung cancer (NSCLC) are typically treated with surgical resection alone. However, about one-third of such patients develop disease recurrence and die within 5 years after complete resection. The ability to predict recurrence could represent an important contribution to treatment planning. This study evaluates the presence of telomerase activity in tumor cells as a predictor of disease recurrence and cancer-related death after operation for stage I NSCLC patients. The activity of the telomerase enzyme was investigated by telomeric repeat amplification protocol (TRAP) in tumors and matching normal lung tissue samples obtained from 107 consecutive operable patients with pathological stage I NSCLC. Telomerase activity was detected in 66 (62%) of the 107 tumors examined and in none of the corresponding adjacent noncancerous lung tissue samples. Correlation with pathological parameters showed that telomerase activity was associated with histopathological grade (P = 0.0135) but not with tumor size or histological type. Univariate survival curves, estimated using the method of Kaplan and Meier, defined a significant association between telomerase activity and both disease-free survival (P = 0.0115) and overall survival (P = 0.0129). In multivariate analyses, performed by Cox's proportional hazards regression models, the presence of telomerase activity was the only strong predictor of disease-free survival (P = 0.0173) and overall survival (P = 0.0187). Our data indicate that telomerase activity can be an important prognostic factor that should be considered in future prospective trials of adjuvant therapy for high-risk stage I NSCLC patients.

Neurophysiological study in an Italian family with autosomal dominant late-onset leukodystrophy.

Evoked potentials (EPs) and nerve conduction velocities (NCV) were evaluated in 8 affected and 10 asymptomatic members of a new Italian family with an adult-onset autosomal dominant leukodystrophy of uncertain nosography. NCV studies did not show anomalies. Various EPs abnormalities were found in all the symptomatic patients (increase of interpeak latency and/or loss of cortical responses), according with a myelin disorder. Among the asymptomatic subjects 3/10 (30%) showed similar anomalies at auditory brainstem EPs (increase of I-III/I-V/III-V interval). Two of these patients had normal brain MRI. This datum require further confirms (very low penetrance of the disease?), but it remarks the importance of a functional study of SNC in order to obtain elements not usually given from clinical and neuroradiological study.

MRI and CT in an autosomal-dominant, adult-onset leukodystrophy.

We report MRI findings in a family with an autosomal-dominant, adult-onset neurological disorder. The clinical picture, the white matter changes detected on MRI and the absence of any laboratory abnormality suggested the diagnosis of leukodystrophy with an unknown biochemical defect. Autosomal-dominant inheritance is extremely rare in this kind of disease, and most reported families have not undergone MRI. We performed MRI and clinical examination of 17 members of our family; 9 affected subjects, at different stages of the disease, were detected. The most characteristic MRI findings were initially symmetrical areas of signal change in the white matter of the trigonal region; demyelination extending thereafter to the frontal and parietal regions, partially involving subcortical white matter; the temporal lobe and optic radiations were less involved; the internal capsule and corpus callosum were involved later, in a dorsoventral direction; patchy demyelination was evident in the late stages in the brain stem; the cerebellum was spared even in the latest stages of the disease. While pathological examination is essential to characterise and classify these kinds of diseases, MRI can make substantial contributions to understanding their natural history, and to detect early signs of the disease.

Autosomal dominant late-onset leukoencephalopathy. Clinical report of a new Italian family.

The adult-onset autosomal dominant leukoencephalopathies are rare disorders. Very few pedigrees have been extensively described and no biochemical or genetic marker has been identified so far. The present study was aimed to characterized an autosomal dominant late-onset leukoencephalopathy occurring in a large Italian kindred. A genealogic method was adopted to ascertain 51 affected individuals among nearly 400 subjects in 8 generations. Medical records were obtained from 11 deceased patients. We personally examined 8 symptomatic and 9 asymptomatic at-risk individuals who underwent a standardized clinical, biochemical, radiological and neurophysiological study. The mean age at onset of the disease was 46.6 years and the mean duration of disease 9.9 years. The clinical picture was characterized by progressive pyramidal and pseudobulbar signs, urinary incontinence and, sometimes, action tremor of the head and/or hands. No relevant mental deterioration was noted. In all the symptomatic and in 1 asymptomatic subject, brain MRI showed marked symmetrical hyperintensity on T2-weighted images of the white matter of the cerebral hemispheres, with constant sparing of the cerebellum. In these subjects, evoked potentials revealed altered central neural conduction. Nerve conduction velocity, biochemical (including lysosomal enzymatic activities) and biopsy (peripheral tissue specimens) examination were normal. The clinical and neuroradiological data are consistent with an autosomal dominant adult-onset leukoencephalopathy whose features are unusual when compared to those previously reported.

Early modification of stretch reflex in Parkinson's disease.

We stretched quadriceps femoris in healthy subjects and in patients with a recent diagnosis of PD in order to assess whether modifications of the long-latency component of the stretch reflex is an early event in the course of Parkinson's disease (PD). We found a modified mechanical and electromyographic (EMG) behavior in stretching relaxed muscles of patients while voluntary activation greatly reduced differences between normal and Parkinsonian subjects, suggesting that a lower threshold of the response is an early sign in PD.

Stretch reflex of quadriceps femoris in normal man: methodological considerations and normative data.

Short- and long-latency responses to stretching have been evoked in various muscles in the healthy subject. The quadriceps femoris, however, has never been investigated in this connection, despite its functional importance. We studied its stretch reflex in 17 healthy subjects with a torque motor to determine its morphological features in relation to the level of background EMG activity, the stretching velocity and duration and the instructions given to the subject. Two bursts of EMG activity were constantly evoked when the muscle was voluntarily activated. Response magnitude was proportional to the background activity and displacement velocity. Short stretching evoked only one EMG burst. These findings are similar to those from other muscles. Intra-individual variability was evaluated repeating the experiment in the same session without changing position of the electrodes, and then after two months. The long-latency response showed a good intra-individual reproducibility.

Stretch reflex of quadriceps femoris and its relation to rigidity in Parkinson's disease.

Much evidence suggests that parkinsonian rigidity is due to hyperactivity of a reflex arc. While tendon jerk and H reflex are not modified in Parkinson's disease (PD), the long-latency component of stretch reflex (LLR) shows an increased size in PD. It has been proposed that this modification could account for rigidity. We studied in 14 PD patients and 8 normal subjects the stretch reflex of the quadriceps femoris. The muscle was stretched by a torque motor in two experimental sets: at rest and with voluntary background activity. Latency, duration and size of the reflex were compared in two groups; correlation between size of the reflex and rigidity was investigated. A lower threshold for the reflex was found in PD patients in trials at rest, and LLR showed increased size and duration in trials with background activity. No clear relationships between these data and rigidity were demonstrated.

Rhinocerebral mucormycosis and internal carotid artery thrombosis in a previously healthy patient.

Mucormycosis is a very serious fungal infection caused by habitual saprophytes of the human organism, in many cases concomitant with various pathological conditions marked by immunodepression. The rhinocerebral variant habitually accompanies ketoacidotic diabetes. We report a case of rhinocerebral mucormycosis in a subject free from immunodepression and non-diabetic, in apparently normal health. Following treatment with amphotericin B combined with 5-fluorocytosine and surgery, remission of the disease was finally secured and about one year after the last operation there are no sign of resumption.

A case of cortical blindness due to carbon monoxide poisoning.

We report a case of cortical blindness occurring 7 days after acute CO poisoning with no other neurological or psychic deficits apart from denial of the blindness with visual confabulation and slight loss of retentive memory. There was scant correlation between the course of the clinical pattern, which cleared completely within 6 days, and the electroencephalographic pattern with marked and diffuse slowing, which did not recede completely during 3 months observation. CT scanning of the skull, initially within normal limits, displayed 2 weeks later a faint but diffuse hypodensity of the white substance, more marked in the occipital region, which was no longer present 80 days after the first scan.

[An atypical case of subacute sclerosing panencephalitis (SSPE), (with special reference to psychiatric and psychological evaluations)]. / Su di un caso atipico di P.E.S.S. (con particolare riguardo alle valutazioni psichiatrica e psicologica).

An atypical case of subacute sclerosing panencephalitis is described, with particular reference to its psychiatric and psychological aspects in the light of the neurological and laboratory data: slow-gamma electrophoresis of the spinal fluid, periodic delta signs in the EEG over about 6 yr, 1/160 blood titre of anti-measles virus antibodies. The history displayed an ingravescent dementia course and the patient's continuing survival for more than 11 yr makes the case the longest recorded in the literature. Both the psychiatric-psychological and neurological symptoms had occurred in distinct stages. It is suggested that neurological recrudescence was responsible for the pattern of symptomatological stabilisation followed by sudden relapses. The symptoms regarded as characteristic of the terminal stage have not yet appeared, especially on the neurological side.

[Antagonism between focal epilepsy and taurine administered by cortical perfusion]. / Antagonismo fra epilessia focale e taurina somministrata per perfusione corticale

The therapeutic action of taurine cortical perfusion was tested in cats affected with Premarin and cobalt cortical epileptogenic foci. In all animals taurine provoked the disappearance of EEG epileptic abnormalities. In the case of Premarin focus the effect appeared more quickly than in the cobalt one. This different time-course, according to previous reports on the antiepileptic action of the parenteral administration of the amino acid, suggests the hypothesis of a taurine direct inhibitory action against Premarin focus and, on the contrary, a mediated action towards the cobalt's. The latter might be related to the metabolic production of some taurine derivative.