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Biomedical subjects

L Santoro

Publications and source records attributed to L Santoro.

At least 199 records · Page 11Linked to original sources
PubMedDate not supplied

Friedreich's ataxia: electrophysiologic and histologic findings in patients and relatives.

Peripheral nerve conduction velocity and cortical evoked potentials were investigated in 48 patients with Friedreich's disease and in 35 relatives. There were 14 patients and 2 relatives who underwent sural nerve biopsy. In the patients sensory conduction velocity was moderately slowed, whereas sensory responses were markedly reduced. Nerve biopsy showed a severe loss of large myelinated fibers and no demyelination. On teased nerve fiber preparations, most fibers presented uniformly short internodes. No correlation was seen between sensory conduction findings or histologic abnormalities and clinical disability. In patients SSEP changes, which were constant, and VEPs, which were frequently involved, were unrelated to the severity or duration of clinical disability. There were 14 relatives who showed clinical signs of Friedreich's disease. Slightly decreased distal conduction velocity along sensory fibers was observed in more than half of the relatives. Nerve biopsy was noncontributory. In conclusion, we could not determine whether the abnormalities observed in the siblings were an expression of a heterozygotic condition, or whether they were early signs of the disease.

Adolescent↗
PubMedDate not supplied

Premature aging in Werner's syndrome spares the central nervous system.

Werner's Syndrome is a rare genetic disease, characterized by premature aging of many tissues and organs. We studied the brain morphology and function in two patients with Werner's syndrome to assess the possible involvement of the central nervous system in this premature aging process. The two patients (brother and sister, respectively) were studied by magnetic resonance imaging (MRI) and angiography (MRA), single photon emission computed tomography (SPECT) with (99mTc)-d,l-hexamethyl propilene amine oxime (HMPAO), positron emission tomography (PET) with 2(18F)-Fluoro-2-deoxyglucose (FDG), electroencephalography (EEG), and electromyography (EMG). Some of these investigations were also repeated after 1 year. The results of all these studies were normal. The premature aging process in patients with Werner's syndrome, while affecting most tissues, seems to spare the central nervous system.

Adult↗
PubMedDate not supplied

Normalisation of high CA 19-9 values in autoimmune hepatitis after steroidal treatment.

Carbohydrate 19-9 antigen (CA 19-9) is considered a specific marker of pancreatobiliary adenocarcinomas, but slight increase of its levels can be found in several non-malignant diseases of the liver, such as autoimmune hepatitis. We describe a case of marked CA 19-9 elevation (up to 898.0 U/ml) in a patient with autoimmune hepatitis. Laboratory and instrumental examinations excluded malignant diseases. Immunohistochemical analysis for CA 19-9 and MIB-1, performed on liver biopsy, showed reactivity in inflammatory areas, in particular in bile ductule cells and hepatocytes in ductular metaplasia, suggesting that these cells could be involved in CA 19-9 serum levels increase. After steroids, the clinical picture improved and all the laboratory parameters normalised.

Alkaline Phosphatase↗
PubMedDate not supplied

Sjogren's syndrome in a celiac patient: searching for environmental triggers.

In the last few years many studies have shown the potential role of different triggers in the pathogenesis of several autoimmune diseases. In particular, in Sjogren's syndrome the presence of a genetic background is considered determining, but environmental factors have recently been described as triggers or precipitators. In this report, we describe the case of a young woman affected by celiac disease in which an Ascaris lumbricoides infestation and estrogen therapy could have played a role in the development of Sjogren's syndrome.

Adult↗
PubMedDate not supplied

[Clodronate in erosive osteoarthrosis of the hand: efficacy for pain and function recovery].

29 patients suffering from erosive osteoarthritis of the hands (26 women with a mean age of 61.47 years and 3 men with a mean age of 53.3 years) were treated during painful episodes with cyclical intravenous clodronate (300 mg for slow infusion for 7 days). We administered 73 cycles after which the pain, evaluated by VAS' score, decreased from 5.63 +/- 2.14 to 2.93 +/- 1.95 (p = 0.0001); the pain reduction lasted for a mean of 88.33 days. In 16 out of those 73 cycles were measured also: the strength of the hands (mmHg) which increased, on the right from 169.38 +/- 75.85 to 190.31 +/- 81.76, on the left from 180.56 +/- 68.27 to 196.11 +/- 85.55 (p = n.s.); the number of painful joints which decreased from 4.75 +/- 2.52 to 2.56 +/- 1.93 (p = 0.0011); the number of swollen joints which decreased from 3.07 +/- 2.69 to 2.67 +/- 2.61 (p = n.s). These data prove the efficacy of the clodronate in treating painful episodes of erosive osteoarthritis and suggest that bisphoshonates could play an important role in the rehabilitation of this disease.

Aged↗
PubMedDate not supplied

In vitro enzymatic conversion of pantothenylcysteine-4'-phosphate into cysteamine.

In vivo production of taurine can not proceed from cysteine via the action of cysteinsulphinic acid-decarboxylase in those mammalian organs where this enzymatic activity is absent, such as heart. The possibility of existence of another metabolic way is strengthened by the experimental finding that, in vitro, cysteamine is obtained from pantothenylcysteine-4'-phosphate through the combined action of two mammalian enzymes, i.e. pantothenylcysteine-4'-phosphate decarboxylase and pantetheinase, used in partially purified forms. This new route should be related to the known biosynthetic pathway of CoA.

Acid Phosphatase↗
PubMedDate not supplied

[Clinical and electrophysiological findings in various hereditary sensory neuropathies].

An electrophysiological study, comprehensive of peripheral sensory and motor conduction velocity (SCV, MCV), motor cortical stimulation (CS), median nerve somatosensory evoked potentials (SSEPs), brainstem evoked potentials (BAEPs) and sural nerve biopsy, was performed on 100 hereditary ataxia patients: 48 with Friedreich's ataxia (FA), 18 with Early Onset Cerebellar Ataxia (EOCA) and 34 with Autosomal Dominant Cerebellar Ataxia (ADCA). An early "peripheral" and "central" sensory impairment was observed in FA probably due to axonal loss and not related to disease severity or duration. On the contrary, BAEP and CS findings suggested a progressive involvement of the auditory and motor pathways. The presence of a non progressive sensory neuropathy allowed a distinction of EOCA patients in two groups: with and without peripheral neuropathy. The clinical and genetic heterogeneity was confirmed by the variability of evoked potential results. The ADCA patients showed the mildest degree of electrophysiologic abnormalities with an involvement of the peripheral pathways, both sensory and motor, more frequent than the central ones.

Adolescent↗
PubMedDate not supplied

Cutaneous circulation in Raynaud's phenomenon during emotional stress. A morphological and functional study using capillaroscopy and laser-Doppler.

In order to assess the effects of emotional stress on the cutaneous microcirculation in patients suffering from Raynaud's phenomenon (RP) a group of 18 patients with this pathology and 16 healthy control subjects underwent an "arithmetical test". The microcirculatory response was examined using a laser Doppler apparatus. The results obtained showed a constantly reduced flow during mental stress in normal subjects; in the RP group it was possible to observe: a first subgroup with a reduced flow similar to that seen in normal subjects, and a second subgroup with a paradoxically increased flow. It is likely that the normal vasoconstrictor response is the expression of the functional impairment of the microcirculation alone (primary RP), whereas vasodilatation in response to mental stress is a sign, of the organic development of the disease right from an early stage.

Female↗
PubMedDate not supplied

A new case of Ullrich's disease.

A new case of congenital, hypotonic-sclerotic muscular dystrophy is presented. The patient showed congenital hyperlaxity and looseness of distal joints, muscle weakness, and spur-like protrusion of the calcaneus. Afterwards rapid progressive contractures of both knees and hip joints developed. Muscle biopsies revealed unequivocal dystrophic abnormalities and small atrophic fibers with numerous foldings of basal lamina suggestive of a neurogenic lesion. The disease presents clinical variability but the diagnosis is possible when a newborn shows: no dominant family history, slender body, marked distal joint laxity and hyperflexibility, proximal joint contractures and normal or slightly increased serum enzymes.

Child, Preschool↗
PubMedDate not supplied

[Dietary prevention and therapy with lamb meat extract in 26 children multi-allergic to food, with multiple exclusion diet during intensive or post-diagnostic maintenance therapy].

Actuating a study on foods' allergenicity with respiratory expression, in 100 children, with FBST (food bronchostimulation test) has been selectioned 86 responsive children. Twenty poliallergic subjects whose ten with audiometric and impedentiometric damage and six children of intensive care has received a diet with a "like-milk" with liofilized lamb's meat. This "like-milk" allowed to effect homely cream-pie and ice-cream and "milk" cup. The use of this milk allowed the food allergen's removal holding a accepted diet and sufficient for calorie too. Holding this diet reappeared the normality of spirometric, rinomanometric and impedentiometric values.

Animals↗