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Biomedical subjects

L Pavone

Publications and source records attributed to L Pavone.

At least 91 records · Page 5Linked to original sources
PubMed1988

Intrathecal interferon in subacute sclerosing panencephalitis.

Three patients at Stage II of subacute sclerosing panencephalitis (SSPE) were treated with semipurified alpha-interferon (IFN) using different combinations of intrathecal and intravenous routes: 1 x 10(6) IU of alpha-IFN were given every other day up to a total of 15 x 10(6) IU. Transient improvement of neurological symptoms and electroencephalogram were noted in all 3, while cognitive function slightly improved in 2 of them. Clinical benefits gradually disappeared 2 to 6 months after cessation of IFN. Intrathecal antibody production did not change substantially, but CSF Leu 3a/Leu 2a ratio appeared to increase. No significant side effects were observed, except for a mild meningeal inflammatory reaction after each intrathecal administration of IFN.

Adolescent↗
PubMed1987

Familial Ehlers-Danlos syndrome type II: abnormal fibrillogenesis of dermal collagen.

We examined a father and son affected by Ehlers-Danlos syndrome type II. Both patients had micrognathia together with ligament and skin hyperlaxity. The son exhibited complete cleft palate. Ultrastructural studies revealed abnormal collagen fibrils in the dermis of both patients. In the child the most striking alterations consisted of lateral fusion of an enormous number of collagen fibrils giving rise to huge polymorphic collagen masses. In the father's dermis the great majority of collagen fibrils appeared normal; however, lateral fusion of fibrils together with local abnormal collagen aggregation were occasionally seen. In both patients the dermal elastic network was well developed and elastic fibers appeared normal.

Adult↗
PubMed1986

Niemann-Pick disease type B: clinical signs and follow-up of a new case.

A girl affected by Niemann-Pick disease type B is reported. The patient presented unusual skin lesions of nummular eczematous dermatitis, signs of delayed puberty and stunted physical development, together with the typical symptoms involving visceral organs and lungs. This disease may therefore indirectly affect more body organs than assumed.

Bone Marrow↗
PubMed1986

Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant?

The authors report a family in whom three members suffered from congenital hydrocephalus and ocular abnormalities. One of these patients showed along with these symptoms congenital muscular dystrophy. In this child, autopsy disclosed severe cerebral malformations consisting of lissencephaly, arhinencephaly, stenosis of aqueduct, Dandy-Walker cyst and cerebellar micropolygyria. The mode of transmission, the eyes abnormalities and the neuropathological findings of this family resemble the clinical and pathological aspects of Warburg syndrome. However, the presence of congenital muscle dystrophy in one of these children suggests some links with Fukuyama's congenital muscular dystrophy and/or with so-called brain-eye-muscle disease of Santavuori. These three syndromes are shortly discussed. The present case and few others reported in the literature obviously represent a severe and lethal form of a congenital disease involving brain, muscle and eyes.

Abnormalities, Multiple↗
PubMed1986

Autosomal dominant cone-rod dystrophy associated with sickle-cell trait in a Sicilian family.

Three Sicilian siblings had a typical cone-rod dystrophy. The same ocular anomaly was probably present in their mother and in the maternal grandmother. The three probands were also carriers of Hb S, but this last anomaly was also present in an unaffected brother. It is concluded that the cone-rod dystrophy of this family is inherited as an autosomal dominant character and that its association with sickle-cell trait is coincidental.

Adolescent↗
PubMed1986

Acrofacial dysostosis of Nager and ocular abnormalities.

Acrofacial dysostosis of Nager is a little known hereditary syndrome in which the findings of mandibulofacial dysostosis are associated with defects of the limbs. The present case showed other abnormalities including the Stilling-Turk-Duane syndrome, conductive deafness and ptosis of the transverse colon.

Abnormalities, Multiple↗
PubMed1985

Infantile spasms syndrome in monozygotic twins. A 7-year follow-up.

The Infantile Spasms Syndrome is a fairly common form of seizures in infancy. Many papers and several books have been published on this syndrome but several aspects are still obscure. In particular, there is some controversy about anticonvulsant treatments and on the question of improvements in mental status. An unusual case of 2 monozygotic twins with by this syndrome, both with clinical manifestations appearing within a few hours on the same day, at 6 months has been followed up for 7 years, giving us the opportunity to understand some aspects of the clinical course of the disease and long term treatment.

Adrenocorticotropic Hormone↗
PubMed1985

Twins with acardia and anencephaly.

The authors describe a pair of twins, one of whom showed acardia while the other had severe neural tube defect including anencephaly. This is the first observation of a fetal malformation (anencephaly) in the cotwin of an acardius and confirms the fact that even the cotwin of an acardiac fetus may be at risk of severe congenital malformations.

Anencephaly↗
PubMed1984

Determination of C20-C30 fatty acids by reversed-phase chromatographic techniques: an efficient method to quantitate minor fatty acids in serum of patients with adrenoleukodystrophy.

An analytical method for the determination of saturated very long chain (VLC) fatty acids in the serum has been devised. Free fatty acids obtained after hydrolysis of total lipid extracts were converted into p-bromophenacyl esters. The derivatives were purified in two sequential steps by clean-up on C18 reversed-phase cartridge and fractionation by reversed-phase thin-layer chromatography (TLC), and then quantitated by high performance liquid chromatography (HPLC) analysis. This technique provides a reliable and alternative method for the biochemical identification of patients and carriers of an inherited metabolic disease characterized by the accumulation of saturated VLC fatty acids (C24-C26) such as Adrenoleukodystrophy (ALD). In four cases of diagnosed ALD the fatty acid composition of serum total lipids was dramatically enriched in saturated VLC fatty acids compared to controls. The ratio of hexacosanoic acid (C26:0) to docosanoic acid (C22:0) in ALD patients was approximately six-fold higher than that of healthy controls or patients affected by metabolic or neurological disorders other than ALD.

Adrenoleukodystrophy↗
PubMed1983

Unusual combination of genetic defects in a Sicilian boy: G gamma delta beta thalassemia, G gamma A gamma heterocellular HPFH, beta (0) thalassemia, and albinism.

We describe the clinical and hematological findings in a 5-year-old boy with G gamma A gamma delta beta thalassemia, a G gamma A gamma heterocellular form of HPFH, beta(0) thalassemia, and albinism. Clinically he manifested only the characteristics of beta-thalassemia trait and not the typical picture of doubly heterozygous beta thal/delta beta thal. The simultaneous presence of heterocellular HPFH improves gamma chain synthesis, thus reducing the alpha chain excess. It is also possible that gene expression can be modified by the presence of other genetic anomalies.

Albinism↗
PubMed1983

Serum IgE in polytransfused thalassemic patients.

Serum IgE was determined by radioimmunoassay in 28 subjects affected by homozygous beta thalassemia (14 males and 14 females, aged 3-19 years, mean age 7 +/- 5.6 years). They were given transfusions with packed red cells and chelant therapy. Blood samples were taken just before a transfusion (basal value) and at 10-day intervals (2-3 times) between transfusions. Serum IgE values were significantly increased in the thalassemic patients as compared with the control group. There was no relation between IgE and age, sex, skin allergy, familial atopy and splenectomy. Serum IgE was significantly higher in 7 subjects with a history of febrile non-hemolytic transfusion reactions. In the intertransfusional period there was a further serum IgE increase, which was statistically significant only in the older patients.

Adolescent↗
PubMed1983

Rigid spine syndrome. Some evidence of varying pathological patterns.

Rigid spine syndrome is a rare disorder supposed to be myopathic in origin, its major histologic abnormality being apparently a proliferation of connective tissue. A case of this syndrome observed in a 8-year-old girl with a progressive and rapidly fatal course is reported. Examination of nerve conduction velocity suggested a neurogenic rather than a myopathic impairment. Muscle biopsy disclosed nonspecific findings, such as fibre size variation, few streamings, but no proliferation of connective tissue. A review of the cases presented in the literature let us suppose that this syndrome is a complex clinical disorder probably secondary to varying pathological processes.

Child↗