Search PubMed⌕ Search

Biomedical subjects

G Campanella

Publications and source records attributed to G Campanella.

At least 19 recordsLinked to original sources
PubMed2003

Clinical presentation and treatment of Wilson's disease: a single-centre experience.

Thirty patients with Wilson's disease (WD) were observed at a movement disorder clinic between 1970 and 2000. Disease onset was at the mean age (SD) of 14.5 (+/-5.9) years. Presentation with hepatic disease occurred in 12 of 30 patients and with neurologic disease in 15. Three patients were asymptomatic at the time of diagnosis. The mean (SD) delay to diagnosis was 5.9 (+/-5.7) years. Five patients diagnosed in an advanced stage of disease died before initiating treatment. Eighteen patients were followed and treated with D-penicillamine alone or in combination with zinc sulphate. Treatment improved most of neurological symptoms. Dystonic postures, behavioural disturbances and dysarthria were the most resistant neurological signs. 'Pseudo-sclerotic' neurologic involvement predicted a good outcome, whereas hepatic onset and 'classic' neurologic involvement were associated with a poorer prognosis. Two of the 18 treated patients died of hepatic failure due to voluntary discontinuation of therapy. Both D-penicillamine and zinc sulphate were well tolerated. No teratogenic effect of D-penicillamine was observed throughout 5 pregnancies. Our results suggest that D-penicillamine or a combination of D-penicillamine and zinc sulphate is a safe and effective long-term treatment in patients with WD.

Adolescent↗
PubMed2001

Excitatory and inhibitory mechanisms in Wilson's disease: investigation with magnetic motor cortex stimulation.

We have evaluated cortical excitability in nine patients affected by Wilson's disease (WD) using transcranial magnetic (TMS) and electric (TES) cortical stimulation and central silent period (CSP) data. A clinical score was derived from the sum of scores assigned to extrapyramidal, pyramidal and cerebellar signs. All patients underwent TMS. Motor evoked potentials (MEPs) from abductor pollicis brevis (APB) and tibialis anterior (TA) muscles were recorded. MEP threshold and amplitude, central motor conduction time (CMCT), CSP threshold, CSP and peripheral silent period (PSP) duration were measured. Three patients also underwent transcranial bifocal electric cortical stimulation (TES) and MEPs were recorded from the APB muscle, and CMCT, MEP threshold and amplitude were measured. TMS MEPs were absent from relaxed muscles in six patients and from contracted muscles in three. CMCT was prolonged in six patients. APB CMCT correlated with clinical score. In three patients in whom TMS revealed abnormal or no MEP, TES MEPs were of normal threshold and amplitude. The CSP threshold was increased in seven patients, and CSP was absent in one. These results suggest an intracortical presynaptic motor dysfunction in WD.

Adult↗
PubMed2000

Effect of diabetes on some primitive reflexes.

Primitive reflexes (PRs) are present in newborns; they disappear as the brain matures and increase in frequency in healthy elderly individuals. Primitive reflexes are more frequent in some neurological disorders than in age-matched controls. The aim of this study was to investigate the effect of diabetes on some PRs. We examined three PRs (glabellar tap, snout and palmomental reflexes) in 376 subjects: 111 normal age-matched controls, 60 patients with cerebrovascular disease (CVD) and 205 patients with type 2 diabetes mellitus. The latter patients were divided into three groups: (1) diabetics without neurological complications (D); (2) diabetics with cerebrovascular disease (D-CVD); and (3) diabetics with polyneuropathy (D-PN). The frequency of PRs was increased in CVD, unchanged in D-CVD (except palmomental) and greatly reduced in D and D-PN. It is possible that the vascular lesions in perforating arteries of the pons in diabetic subjects, previously studied in some pathological reports, can account for the reduced occurrence of primitive reflex responses.

Aged↗
PubMed2000

Takayasu's arteritis associated with Crohn's disease. Report of a case.

The authors report a rare case of Takayasu's arteritis with aortic arch and abdominal aorta involvement associated with Crohn's disease of the colon which both occurred in a young female patient. The coexistence of two immune mediated diseases in the same subject is unusual for they are generally considered to be independent of each other, however a hypothesis of their possible interrelationship is put forward.

Adult↗
PubMed1999

A case of neurofibromatosis type 1 with an aldosterone-producing adenoma of the adrenal.

Neurofibromatosis type 1 is a phacomatosis. Neurofibromas are the most common tumours associated with the disease, and along with other tumours, make neurofibromatosis type 1 the most common tumour predisposing syndrome in humans. Hypertension may be coincidental, but at least two specific neurofibromatosis related causes must be considered, namely neurofibromatous involvement of the renal artery and pheochromocytoma. We have described the first known case of a patient with neurofibromatosis type 1 who developed hypertension due to an aldosterone-producing adenoma of the adrenal. The question of whether this association was coincidental or due to the tumour predisposition of neurofibromatosis type 1 was debated.

Adenoma↗
PubMed1999

[Tularemia: considerations on a new case in the Monte Amiata].

One sporadic case of tularemia induced by direct contact with an infected hare is described. Human epidemiological data of the last ten years in Tuscany, emphasize that this infection, although at low incidence, shows the presence and persistence of Francisella tularensis in the animals and the ensuing transmission to humans so that it continues to be responsible for significant morbididy in "at risk" territories. Difficulties in the differential diagnosis, above all for glandular and pharyngeal forms, are reviewed.

Humans↗
PubMed1998

Long-term effect of a single dose of flunarizine in Huntington's disease.

We report a preliminary pilot study on the clinical efficacy of flunarizine (FNZ), a calcium-entry blocker that causes extrapyramidal side-effects, in 10 patients with Huntington's disease (HD). FNZ (20 mg) administered by the sublingual route resulted in a decrease in choreic movements and improved dexterity in performing several tests. These effects lasted for at least 7 days after a single dose. Therefore, FNZ seems to exert the same effect as a long-acting neuroleptic agent in our HD patients.Copyright Lippincott-Raven Publishers

Journal Article↗
PubMed1997

International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology.

Despite the involvement of cerebellar ataxia in a large variety of conditions and its frequent association with other neurological symptoms, the quantification of the specific core of the cerebellar syndrome is possible and useful in Neurology. Recent studies have shown that cerebellar ataxia might be sensitive to various types of pharmacological agents, but the scales used for assessment were all different. With the long-term goal of double-blind controlled trials-multicentric and international-an ad hoc Committee of the World Federation of Neurology has worked to propose a one-hundred-point semi-quantitative International Cooperative Ataxia Rating Scale (ICARS). The scale proposed involves a compartimentalized quantification of postural and stance disorders, limb ataxia, dysarthria and oculomotor disorders, in order that a subscore concerning these symptoms may be separately studied. The weight of each symptomatologic compartment has been carefully designed. The members of the Committee agreed upon precise definitions of the tests, to minimize interobserver variations. The validation of this scale is in progress.

Cerebellar Ataxia↗
PubMed1997

May age onset be relevant in the occurrence of left ventricular hypertrophy in Friedreich's ataxia?

BACKGROUND: Although heart involvement has been widely reported in Friedreich's ataxia (FA), which is the most prevalent of the spino-cerebellar degenerative diseases, the reason that cardiac abnormalities develop has not been yet established. HYPOTHESIS: The investigation was undertaken to study the prevalence and characteristics of cardiac abnormalities in patients with FA and to evaluate whether the presence of left ventricular hypertrophy could be predicted. METHODS: In all, 75 patients with FA and 16 patients with late onset FA (LOFA) disease were investigated for cardiac abnormalities using noninvasive methods. RESULTS: A significant (p < 0.01) difference in the age onset (9.8 +/- 3.9 years) was found in 31 of the 75 patients with FA (41%) who showed left ventricular hypertrophy (LVH) at echocardiographic examination compared with the remaining 44 patients with FA without LVH (12.6 +/- 4.3 years). Moreover, none of the 16 patients with LOFA (age onset 26.5 +/- 4.2 years) showed abnormalities at echocardiographic examination. A significant (p < 0.01) concordance in the familial distribution of hypertrophy was also found. CONCLUSION: These data suggest that the earlier the disease develops the more frequently LVH occurs.

Adolescent↗
PubMed1997

Reliability of ultrasounds in detecting common bile duct stones before biliary surgery. A retrospective analysis.

UNLABELLED: The aim of this study is to evaluate the diagnostic benefit of US in the preoperative screening for CBD stones in patients submitted to surgery for biliary lithiasis. MATERIALS AND METHODS: We analyzed the data of 135 patients admitted for biliary lithiasis, jaundice or biliary pancreatitis in the last three years. Mean age was 63 years (54.8% females), 48% of the cases had an urgent admission. US of the liver and biliary ducts was the first examination performed and the patients were divided in 2 groups on the bases of the results: those with the diameter of the CBD < 1 cm (101 pts-group A) and those with a diameter > 1 cm (34 pts-group B). RESULTS: In group A were subsequently performed: 35 IV cholangiographies (6 showed CBD stones, 1 was a false negative for CBD stones), 15 intraoperative (I.O.) cholangiographies (1 positive for CBD stones), 9 ERCP for jaundice or pancreatitis (2 positive for CBD stones). The incidence of CBD stones was 8.9% in this group. In group B were performed: 7 IV cholangiographies (2 showed CBD stones), 12 I.O. cholangiographies (6 showed CBD stones), 10 ERCP for jaundice or pancreatitis (7 showed CBD stones). The incidence of CBD stones was 44% in this group. CBD stones were detected by US in 2 cases (22%) in group A and in 6 cases (40%) in group B. CONCLUSIONS: In our patients there is a relatively high incidence of CBD stones (8.9%) in spite of a normal CBD at US. Considering that the minimally invasive approach for the gallbladder stones is becoming the "gold standard" and the laparoscopic treatment of the CBD stones is not widely diffused, it is important to know the presence of CBD stones before surgery. With this in mind US does not seem to be a reliable diagnostic tool and we suggest that before surgery an IV cholangiography (sensitivity > 95% in our experience) should be performed together with US and ERCP in selected cases. Moreover this could reduce the number of preoperative ERCP leaving the possibility to treat more selectively by endoscopic papillosphincterotomy the patients with CBD stones before laparoscopic cholecystectomy.

Female↗
PubMed1996

Environmental and genetic risk factors in Parkinson's disease: a case-control study in southern Italy.

To clarify the role of heredity and of some environment risk factors in the etiology of idiopathic Parkinson's disease, we performed a case-control study in two regions of southern Italy, Campania and Molise. We selected two controls for each parkinsonian patient, the patient's spouse and a sex- and age-matched neurological control. One hundred sixteen consecutive outpatients with Parkinson's disease (77 men, 39 women; mean age +/- SD = 62.5 +/- 9.9) and the same number of spouses and neurological controls were interviewed about five environmental risk factors (cigarette smoking, well-water drinking, head trauma with loss of consciousness, strict diets, general anesthesia) and two genetic risk factors (family history of Parkinson's disease or of essential tremor). Well-water drinking and family history of Parkinson's disease or essential tremor showed a positive association with Parkinson's disease; smoking showed a negative association. The most relevant risk factor was history of familial Parkinson's disease (odds ratio = 14.6; 95% confidence interval = 7.2 - 29.6); 33% of our patients had at least one affected relative. We also showed a unilateral distribution of ancestral secondary cases on the paternal or on the maternal side, which suggests a dominant inheritance. Clinical and epidemiologic features of cases with familial Parkinson's disease showed no peculiarity. The study suggests a strong role of the genetic factors in the etiology of Parkinson's disease.

Aged↗
PubMed1996

Transglutaminase activity is related to CAG repeat length in patients with Huntington's disease.

Huntington's disease (HD) is a neurodegenerative disorder associated with CAG repeat expansion. We measured transglutaminase (TGase) activity in lymphocytes from 35 HD patients and from healthy individuals to ascertain whether it was altered in this condition. TGase activity was above maximum control levels in 25% of HD patients; it was correlated with the age of the patient and inversely correlated with the CAG repeat length. These results suggest that: (1) HD could be biochemically heterogeneous, and (2) the length of the CAG repeat expansion/TGase ratio could be important in the manifestation of HD.

Adult↗
PubMed1996

Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes.

We studied 83 patients from 36 Italian families with autosomal dominant cerebellar ataxia type I. Mean onset age +/- SD was 34.2 +/- 12.8 years with a mean anticipation of 12.8 +/- 15.1 in 52 parent-offspring pairs. Onset age anticipation occurred predominantly through paternal transmission. Mean age at death was at 56.5 +/- 15.5 years. The most common associated features were supranuclear ophthalmoplegia, corticospinal signs, peripheral neuropathy and cognitive impairment. Cerebellar atrophy was constant at MRI and usually associated with shrinkage of the pons and degeneration of the pontine transverse fibres. Direct mutation analysis in 29 families showed two families with SCA1 and none with Machado-Joseph/SCA3 mutation. We performed linkage analysis in the ten largest families. Two of them showed linkage to SCA2 locus and none to SCA4 and SCA5 loci. SCA2 patients showed higher occurrence of peripheral neuropathy and slow saccades, rarer corticospinal signs and a milder course of the disease in comparison with SCA1 patients.

Adolescent↗
PubMed1996

Childhood onset of Friedreich ataxia: a clinical and genetic study of 36 cases.

The onset of Friedreich ataxia (FA) was before 10 years of age in 36 out of 95 personally observed patients. We studied the clinical and laboratory findings of these childhood onset patients. Mean onset age +/- SD was 6.3 +/- 2.4 years. Gait and stance ataxia and lower limb areflexia were constant, dysmetria, dysarthria, Babinski sign, pes cavus, scoliosis and decreased vibration sense were present in the majority of patients. Higher occurrence of diabetes in childhood onset cases (25%) was the only statistical difference in comparison with later onset patients. Mean onset age of diabetes was 21.1 +/- 6.9 years and all patients required insulin. ECG was abnormal in 72% of the patients and echocardiographic evidence of hypertrophic cardiomyopathy was found in 43%. Linkage analysis, performed in 10 families, showed no recombination between the polymorphic markers of the 9q13-21.1 region and the disease locus with a peak lod score of 4.21 at a recombination fraction = 0.00.

Adult↗
PubMed1996

Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich's disease: a retrospective study on 119 patients.

We performed a retrospective study on a series of 119 of our patients who have Friedreich's disease to assess the predictive value of age at onset, gender, and left ventricular hypertrophy in regard to disease progression. Outcome variables were survival, time to loss of independent gait, and time to confinement in a wheelchair. Diabetes was considered to be an outcome variable when defining time to diabetes and an explanatory variable when testing its effect on survival. Eleven patients died. The median estimated survival from onset was 36 years, and the median time to loss of independent gait was 8 years and to confinement in a wheelchair was 15 years from onset. Nineteen patients developed diabetes after a median time of 16 years. The presence of left ventricular hypertrophy or diabetes significantly reduced survival based on univariate analysis. Onset at the age of < or = 20 years and the presence of left ventricular hypertrophy predicted a faster rate of progression of the disease.

Adolescent↗
PubMed1996

[Complications in stomach cancer surgery. A review of cases].

The improvement in surgical and anesthesiological techniques have allowed a reduction in oncological surgical morbidity and mortality. The objective of this retrospective study is to evaluate the morbidity and the mortality in oncological gastric surgery up to date. Between 1979 and 1994 we evaluated 281 patients for gastric cancer, of whom 249 underwent surgery. The patients ranged in age from 34 to 88 years, with a mean age of 67.8 years, and included 158 males and 91 females. An oncological radical excision was performed in 184 patients (122 gastroresections and 62 gastrectomies). The other 65 patients underwent exploratory or palliative surgery: 26 explorative laparotomies, 26 gastroenteroanastomoses, 9 gastroresections, 3 digiunostomies and one gastrostomy. The overall post-operative morbidity has been 40.1%, 27.3% was generic and 12.8% was surgical morbidity. The overall mortality has been 9.6%, of whom about one third following surgical complications. In our experience the factors related with morbidity and mortality have been: age, preoperative nutritional state and stage of the disease.

Adult↗