PubMed Health⌕ Search

Biomedical subjects

M Ghezzi

Publications and source records attributed to M Ghezzi.

15 recordsLinked to original sources
PubMed1995

Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.

We report on the clinical and molecular characterization of 3 sibs with X-linked ichthyosis and variable expression of Kallmann syndrome. One of the affected brothers had mild hyposmia and showed normal pubertal progression. However, we demonstrated the same partial deletion of the X-linked Kallmann gene, sparing the first exon in the mildly affected patient as well as in one of his severely affected brothers.

Adolescent↗
PubMed1993

Antiphospholipid antibodies syndrome and cerebral ischemia.

Antiphospholipid antibodies are acquired circulating immunoglobulins that interact with phospholipids. These factors may manifest anticoagulant properties in vitro, interfering with phospholipid-dependent coagulation tests. They are not, however, associated with a hemorrhagic diathesis. Indeed, far from exerting the anticoagulant properties they possess in vitro, they are associated with episodes of thromboembolism, systemic and cerebral. We report the clinical and instrumental findings in 7 patients with ischemic stroke and circulating antiphospholipid antibodies classifiable as antiphospholipid antibodies syndrome.

Adult↗
PubMed1992

The primary antiphospholipid syndrome: case report.

Lupus anticoagulant antibodies and anticardiolipin antibodies are acquired circulating immunoglobulins that interact with phospholipids. These factors may exert anticoagulant properties in vitro and so interfere with coagulation tests that use phospholipids. These antibodies are not, however, associated with a hemorrhagic diathesis. Indeed, despite their name and their in vitro anticoagulant properties, they have been associated right from the earliest reports with systemic and cerebral thromboembolic episodes. We report the clinical and instrumental findings in a patient with ischemic stroke and anticoagulant antibodies in the serum.

Adult↗
PubMed1992

C3 fixed in vivo to cornea from horses inoculated with Leptospira interrogans.

C3 was detected bound in vivo to the opaque cornea of horses inoculated with killed Leptospira interrogans. Employing epithelial corneal cells isolated from a monolayer in tissue culture, we proved that C3 is fixed in vitro to the intact cell surface after incubation with a fresh equine anti-Leptospira serum. These findings, in addition to the infiltration of cornea with neutrophils and lymphocytes, may explain the mechanisms of tissue damage in recurrent uveitis of horses with leptospirosis.

Animals↗
PubMed1992

Clinical evaluation of CAP System and RAST in the measurement of specific IgE.

We investigated the diagnostic value of a new in vitro test, Pharmacia CAP System (Pharmacia Diagnostics AB, Uppsala, Sweden), for the quantitative measurement of allergen-specific IgE antibodies by comparison with RAST in 2 groups of patients, 71 atopic and 48 non-atopic. In the last 20 years RAST has supplied a good diagnostic tool, but this test presents some problems, the main one being sensitivity. The new test has a solid phase able to bind even very small amounts of specific IgE and an anti-IgE tracer with very low cross-reactivity with other immunoglobulins, thus presenting more favourable conditions. From the analysis of our results, Pharmacia CAP System gave higher sensitivity (94% compared to 88% of RAST) with no loss of specificity (96% for both tests). The reliability of these results is ensured by the proper selection of patients who were all suffering from pollinosis and were clinically diagnosed as certainly hypersensitive to a single pollen. A positive trend was found between severity of asthma and levels of specific IgE for timothy. Pharmacia CAP System appears to identify a larger number of atopic patients than RAST.

Adolescent↗
PubMed1992

Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases.

We describe two new cases of cardio-facio-cutaneous (CFC) syndrome, and underline the clinical variability of the CFC phenotype in our two patients presenting with border-line psychomotor development. The first patient showed some additional clinical manifestations, such as cryptorchidism and scoliosis, and the second one had atypical skin lesions.

Cryptorchidism↗
PubMed1987

Neuromyelitis optica in the old age: a clinico-pathological contribution.

We present a case of neuromyelitis optica (NMO) in a previously healthy 64-year-old woman. While CT scan and MRI investigations of the brain as well as myelography were normal, CSF revealed a pathological increase of IgG. Notwithstanding an intensive steroid therapy the patient died after 4 1/2 months. Microscopic examination showed, besides extensive demyelination of the optic nerves and spinal cord (especially in its cervico-dorsal tract), several small demyelinating plaques in the white matter of the pons and near the right lateral ventricle. These findings confirm once again that NMO is a clinical variant of multiple sclerosis and that this disease may make it first appearance at an old age.

Aged↗
PubMed1981

A case of benign recurrent meningitis of Mollaret.

A 72-year-old woman, previously in good health, suffered for 2 years from attacks of a complex neuropsychiatric syndrome lasting from 2 days to 4 weeks. These episodes, which were followed by intervals of nearly complete recovery, were usually marked by fever, headache, mental confusion, vomiting ataxia, anisocoria, epileptic seizures and stiffness of the neck. Neuroradiological investigation revealed only slight ventricular dilatation. In 13 CSF examinations, there was reduced glucose, increased protein, considerable rise of the IgG index and constant oligoclonal bands. There was also an increase of polymorphonuclear leucocytes, lymphocytes or epithelial-like cells. As all microbial, viral or mycotic tests were negative and the patient recovered, the case was considered to be benign recurrent meningitis of Mollaret. The nosological position of this rare disease, as well as its probable pathogenetic mechanisms, are discussed.

Aged↗
PubMedDate not supplied

[Antiphospholipid antibodies and cerebral ischemia].

Lupus anticoagulants (LAs) and anticardiolipin antibodies (ACAs) are acquired circulating immunoglobulins that cross-react with anionic and neural phospholipids. These factors may display anticoagulant properties in vitro by interfering with phospholipid-dependent coagulation tests. These antibodies are usually not associated with a bleeding tendency. In fact, paradoxically to their name, since the initial recognition they have been related to systemic and cerebral thromboembolisms, despite their in vitro "anticoagulant" properties. We report the clinical and laboratory findings in 4 LAs and ACAs positive patients with brain ischemia.

Adult↗
PubMedDate not supplied

[Oculopharyngeal muscular dystrophy. Description of a case with involvement of the central nervous system].

A sporadic case of oculopharyngeal muscular dystrophy occurred in a 74-year-old woman is described. High levels of IgA and IgG in the serum, and esophageal smooth muscle involvement are shown. Electromyography of several limb muscles displayed myopathic pattern with giant polyphasic motor unit potentials, suggesting superimposed denervation. The histological examination of peroneus brevis muscle biopsy specimen showed myopathic changes with dystrophic features, associated with neurogenic changes, including atrophic angulated fibers, small-group atrophy and type-grouping: concomitant involvement of spinal motor neuron pathway is hypotized, normal values of motor and sensory nerve conduction velocities excluding associated polineuropathy. Furthermore, Somatosensory Evoked Potentials recording revealed bilaterally increased Central Conduction Time. Referring to other similar cases previously reported in the literature, the significance of neurogenic involvement in oculopharyngeal muscular dystrophy is discussed.

Aged↗
PubMedDate not supplied

[Immunological and therapeutic aspects of myasthenia gravis (author's transl)].

In the treatment of Myasthenia Gravis (M.G.) new therapeutic techniques have been gradually added to the usual anticholinesterase drugs. Steroids, immunosuppressive drugs, plasma exchange have been employed whereas thymectomy is still the most useful surgical treatment. On the basis of both personal experience and data from the literature the AA. reviewed the therapeutic techniques. Thymectomy is practically indicated for all patients particularly young ones. However there are some reserves in the presence of thymomas as sometimes deterioration may occur. Steroids are mostly employed in cases resistant to other therapies. Immunosuppressive drugs are usually associated with plasma-exchange. The latter has been recently preferred because of the absence of side effects; however its real therapeutic value has not yet been fully assessed.

Adrenal Cortex Hormones↗
PubMedDate not supplied

[The incidence of the X-linked progressive muscular dystrophies in Tuscany from 1966 to 1974 (author's transl)].

An investigation was carried out to establish the incidence of X-linked progressive muscular dystrophies in Tuscany from 1966 to 1974. 52 cases were identified, the incidence being 23,95 X 10(-5) with reference to live-born males. The frequency of new mutations calculated according to Haldane's method was 7,97 X 10(-6). These data practically correspond to those reported by other AA. in Italy and abroad. There was also a remarkable variability in the incidence among individual districts with values ranging from 7,60 X 10(-5) to 41,91 X 10(-5). It was noticed that the number of new cases tended to decrease in the last few years.

Female↗