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Biomedical subjects

F Barbieri

Publications and source records attributed to F Barbieri.

At least 55 records · Page 3Linked to original sources
PubMed1990

Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes.

A clinical and genetic study was performed on 20 patients affected by early onset cerebellar ataxia with retained tendon reflexes (EOCA). Mean age at onset was 8.8 (SD 6.0) years. The frequency distribution of age of onset significantly differed from the normal distribution. Consanguinity rate was 16.7% and segregation ratio 0.164. As well as ataxia, which was a constant feature, there were signs of involvement of the cortico-spinal tracts and/or peripheral nerves in most patients. Results of neurophysiological studies were not homogeneous, nor were morphological findings of the sural nerve biopsy. The data suggest that EOCA may be genetically and clinically heterogeneous.

Adolescent↗
PubMed1990

Neurocutaneous melanosis, neurofibromatosis and spinal meningioma: an unusual association.

The case of 38-year-old woman bearer of a congenital giant naevus "en pélerine" with numerous neurofibromas and other satellite naevi was reported: the patient was afflicted by spastic tetraparesis, more pronounced on the right side. MRIscan of the spine revealed the presence of a cervical spinal tumor shown histologically to be a psammomatous meningioma. The skin picture was consistent with neurocutaneous melanosis; the rarity of its association with neurofibromatosis and spinal meningioma is discussed in the light of embryologic arguments.

Adult↗
PubMed1990

Recurrent frontal status epilepticus with polymorphic clinical features. A case report.

A patient who, two years after the surgical excision of a right frontal astrocytoma, presented with recurrent episodes of Partial Status Epilepticus of long duration is described. Ictal manifestations are initially inconspicuous from a clinical standpoint, but are accompanied by a marked interictal impairment of consciousness. The EEGs show a persistent depression of the background activity and very frequent subclinical right frontal discharges. Successively, seizures become more evident with polymorphic features (versive, oculoclonic, somatomotor, autonomic, automatic, laughing manifestations). The difficulties of an early definition of the clinical picture and the diagnostic importance of the EEG study are stressed, together with other peculiar features (polymorphism of seizures, difficulties of management, progressive mental impairment occurring after every episode of Status Epilepticus).

Adult↗
PubMed1989

The idiopathic hypereosinophilic syndrome. Clinical, electrophysiological and histological study of a case.

A case of idiopathic hypereosinophilic syndrome (HES) is reported. The disease started at the age of 31, with polyneuropathic-like symptoms and disorders of the gastrointestinal tract. Hypereosinophilia and leukocytosis were observed. Instrumental investigation of the digestive tract showed esophagitis, a peptic ulceration, signs of chronic rectocolitis. Charcot-Leyden crystals were present in feces. Peripheral nervous system changes were seen with EMG and nerve conduction studies. Muscle biopsy findings were in agreement with the electrophysiological data and showed inflammatory abnormalities. Qualitative histology and teased nerve fiber studies of sural nerve indicated axonal degeneration. Protein substances derived from eosinophils degranulation may account for the disturbances observed in various systems and organs.

Adult↗
PubMed1989

Source of pain and primitive dysfunction in migraine: an identical site?

Twenty common migraine patients received a one sided frontotemporal application of nitroglycerin (10 patients) or placebo ointment (10 patients) in a double blind study. Early onset migraine attacks were induced by nitroglycerin in seven out of 10 patients versus no patient in the placebo group. Subsequently 20 migraine patients, who developed an early onset attack with frontotemporal nitroglycerin, received the drug in a second induction test at other body areas. No early onset migraine was observed. Thus the migraine-inducing effect of nitroglycerin seems to depend on direct stimulation of the habitual site of pain, suggesting that the frontotemporal region is of crucial importance in the development of a migraine crisis. This is not consistent with a CNS origin of migraine attack.

Administration, Cutaneous↗
PubMed1989

Late onset recessive ataxia with Friedreich's disease phenotype.

The Quebec Cooperative Study on Friedreich's ataxia required an onset before age 20 as an obligatory criterion of Friedreich's disease (FD). Harding included patients with onset before 25 years. We studied nine patients with FD phenotype but with onset ranging from 21 to 29 years (mean 24.4). Statistical analysis of the distribution and intrafamilial variation of onset age suggests that late onset Friedreich's disease (LOFD) is a distinct genetic entity or results from modifying genes in some families. Scoliosis was less common in LOFD than FD patients but otherwise the clinical picture was similar.

Adolescent↗
PubMed1989

Free-from-failure survival in Hodgkin's disease. Long-term analysis of 148 cases treated with a MOPP-modified protocol.

The incidence of relapses and second malignant neoplasms was investigated in a group of 148 patients with bad-risk stage II, or stage III and IV Hodgkin's disease treated with a MOPP-modified protocol between 1973 and 1979. Sixty-eight patients received chemotherapy alone, 80 a combined modality treatment including radiotherapy. One hundred and twelve patients achieved complete remission with induction therapy. Thirty-six patients relapsed 3-120 months (median 27 months) after the induction program with a 10-year cumulative risk of relapse of 33.6%. Seven out of 112 complete responders developed a second malignancy 65-145 months from the start of therapy; one more neoplasm has been recorded in a patient with active Hodgkin's disease. Survival after diagnosis of second malignant neoplasm did not exceed 12 months. The cumulative risk of developing a second malignancy was 6.2% at 10 years. The free-from-failure survival was 49.2% at 10 years, being 64.7% for patients achieving complete remission and 92.4% for long-term complete responders. Although an increased number of second malignant neoplasms may occur in patients treated for Hodgkin's disease, the high risk of early relapse, together with the limited effectiveness of salvage therapy, suggests that intensive induction programs should be carried out in patients with advanced or poor-prognosis Hodgkin's disease in order to achieve long-lasting complete remission.

Adolescent↗
PubMed1989

Hearing loss associated with progressive ataxia (Lichtenstein-Knorr disease?). Report of a sporadic case with peculiar neuroradiological findings.

A sporadic case of hearing loss with ataxia, clinically suggesting Lichtenstein-Knorr disease, is described. Magnetic Resonance (MR) shows an involvement of the white matter, which appears diffusely reduced and abnormal, together with a peculiar tickening of the grey matter. The possible relationships with leukodystrophies and with generalized cortical dysplasias are discussed. To our knowledge, MR imaging has never been performed in Lichtenstein-Knorr disease.

Cerebellar Ataxia↗
PubMed1989

[The onset of double metachronous neoplasms 29 years after the diagnosis of Hodgkin's disease].

The occurrence of two new cancers (a diffuse centrocytic lymphoma and a basal cell cancer) in a patient successfully treated for Hodgkin's disease 29 years before is reported. The centrocytic lymphoma mainly involved the skin, the basal cell carcinoma developed on the dorsum of the right hand. The patient had received high-dose Roentgen-radiation therapy on the mediastinum and lymph nodes for his Hodgkin's disease. The possible relationship between performed therapy and occurrence of new malignancies is discussed.

Aged↗
PubMed1989

Hereditary motor and sensory neuropathy type I and motor neuron disease. An unusual association.

A 34-year-old man experienced progressive muscle weakness and wasting in the shoulder girdle later spreading distally to the upper limbs. Neurological examination revealed signs of pyramidal and bulbar involvement as well as widespread fasciculations. Pes cavus and distal hypoesthesia were also observed. MCV and nerve biopsy findings were consistent with HMSN-I, while EMG pattern suggested a MND. The association of HMSN-I with MND has not been previously described in literature.

Adult↗
PubMed1989

Benign essential tremor. A clinical survey of 82 patients from Campania, a region of southern Italy.

We report a clinical survey of 82 patients with benign essential tremor (ET). Sixty five patients had a positive family history. Onset age showed two peaks before 20 years and in the sixth decade. Segregation analysis confirmed an autosomal dominant inheritance. Head tremor occurred mainly in aged women, mental symptoms occurred mainly in subjects with a low onset age and a disabling tremor. An early onset age was not related to paternal or maternal transmission. In one family ET was associated with retinitis pigmentosa and ichthyosis.

Adult↗
PubMed1989

Neuromyelitis optica in the elderly.

Acute transverse myelitis and monolateral optic neuritis developed within a few weeks of each other in a 68-year-old woman. CSF findings consisted of elevated protein, pleocytosis, increased IgG and presence of one oligoclonal band in the electrophoresis. MRI investigation revealed diffusely increased signal on the T2-weighted images in the cervical and thoracic tracts of the spinal cord. Notwithstanding an intense steroid therapy, the patient died after 6 weeks. Despite the absence of post-mortem examination, clinical, laboratory and neuroimaging findings are consistent with the diagnosis of neuromyelitis optica (NO) related to multiple sclerosis. This case serves to document that NO can occur initially at an advanced age.

Aged↗
PubMed1988

[Creatinine as an adjustment parameter in urinary excretion of vanadium and nickel].

Urinary creatinine is used as an adjustment factor of the concentration of metabolites excreted in urinary random samples. The usefulness of this practice is longtime disputed. The aim of this study, made in 94 workers, is to estimate if the creatinine-adjustment of V and Ni urinary concentrations brings a true advantage in his capacity to predict the amount of metal excreted in 24 hours. The results shown this practice is pointless and that also in case of urinary samples at anomalous dilution. A greater accuracy in expression of analytical results of V and Ni excretion may be obtained collecting the urinary samples with a known amount, that is to say more representative of the daily diuresis.

Adult↗
PubMed1988

[Ataxia-telangiectasia: an optic and electron morphocytologic study of a conjunctival biopsy].

The authors present a case of ataxia-telangiectasia also known as Louis-Bar Syndrome. The rarity of the disease and the dearth of extensive literature about the subject submitting this particular case to optic and electronic study and to report the results. The description, that comes out from our histologic and submicroscope study of the conjunctiva, attests the change of the conduct, of the diameter and conjunctival flow of the microvessels. This, in turn touches upon the cytological question behind the cause of changes in the relationships of vessels and surrounding tissues.

Adolescent↗
PubMed1987

[A case of Hodgkin's disease complicated by Strongyloides stercoralis infestation].

A case of Hodgkin's disease complicated by severe Strongyloides stercoralis infection is reported. Strongyloides is an opportunistic parasite that can produce particularly dangerous clinical pictures by autoinfestation in patients with impaired immunity. The appearance of aspecific gastrointestinal symptoms in such patients should trigger careful examination to discover the presence of parasites as well as the more common pathogenic bacteria. reduced among the elderly.

Aged↗
PubMed1987

A case of Dejerine-Sottas disease with prominent ataxia and brain stem involvement. A clinical, electrophysiological, otoneurologic, and ultrastructural study.

A case is presented of Dejerine-Sottas disease in a 12-year-old boy in which clinical signs made diagnosis of Friedreich's ataxia seem plausible. Based on marked slowing of motor conduction velocity, the sural nerve biopsy findings of a hypertrophic neuropathy with hypo- and demyelination of the nerve fibres, as well as the clinical history, the diagnosis of Dejerine-Sottas disease was made. ABR examination suggested involvement of brain stem at the roots and/or nuclei of the eighth cranial nerve, without involvement of higher structures.

Adolescent↗