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Biomedical subjects

A Fiumara

Publications and source records attributed to A Fiumara.

70 records · Page 4Linked to original sources
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↗
PubMed1984

Effects of carnitine and acetylcarnitine isomers on mitochondrial respiration.

Mitochondrial respiration was studied in the presence of carnitine or acetyl-carnitine isomers. The results demonstrate that 15 mM L-acetylcarnitine stimulates oxygen consumption by approximately 25%. D-acetylcarnitine (15 mM) had a slight inhibitory effect whereas racemic DL-acetylcarnitine (15 mM) markedly inhibited mitochondrial respiration. Similarly racemic DL-carnitine showed approximately 60% inhibition of mitochondrial respiration. L-carnitine or D-carnitine showed no significant effect on oxygen consumption. Further studies will be required to establish whether the carnitine or acetylcarnitine isomers competitively inhibit the acylcarnitine translocase systems of the mitochondrial membrane.

Acetylcarnitine↗
PubMed1983

The effects of 2-(alpha-Tenoyl) thiopropionylglycine (TTPG) on human lung mucus.

2-(alpha-Tenoyl)-thiopropionylglycine (TTPG) was tested for its mucolytic activity on mucus specimens from human lungs. Our data demonstrate that a significant amount of mucus is solubilized in the presence of TTPG; this aspect is more evident when rat liver microsomes are incubated together with lung mucus and TTPG. Furthermore our data demonstrate the presence of thioesterase activity associated with liver, lung, kidney and brain microsomes capable of hydrolysing TTPG and thus liberating free thiol groups. Further studies are in progress to characterize the microsomal thioester activity as well as its probable role in regulating the viscosity of mucus.

Centrifugation, Density Gradient↗
PubMedDate not supplied

A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases.

The aim of this study is to evaluate 75 patients affected by childhood-onset spinal muscular atrophy (SMA), using the diagnostic criteria and classification recently suggested by the International SMA Collaboration Consortium. Sex predominance, age of onset, clinical evaluation and other relevant clinical data of the disease are reported. These findings, as well as the role of the EMG and muscle biopsy as diagnostic tools, are discussed. The study suggests that the frequency of SMA in some areas of Sicily is high, possibly correlating with a relatively high gene frequency.

Age of Onset↗
PubMedDate not supplied

[Neuronal ceroid lipofuscinosis. Description of a case].

The Authors describe a case of Batten-Bielschowsky disease and how they made the diagnosis. It's stressed the importance of the pathological examination, in the absence of any laboratory tests for the diagnosis of this disease.

Cerebellum↗
PubMedDate not supplied

[Heart involvement in progressive spinal muscular atrophy. A review of the literature and case histories in childhood].

There are few cardiological studies in progressive spinal muscular atrophy and mainly concern subjects affected by the juvenile form (Kugelberg-Welander disease). The presence of a cardiomyopathy has been reported in these patients but the cardiac involvement is often secondary to the chronic respiratory insufficiency typical of the disease. We performed a retrospective study in our Institute on 43 patients, age range 3 months to 3 years, 37 of which presented type I (Werdnig-Hoffmann disease) and 6 type II (intermediate form) of the disease. No clinical nor instrumental signs of cardiomyopathy were observed. However, ECG revealed signs of right ventricular overload in 37.3% of the patients, probably provoked by pulmonary hypertension due to respiration anomalies. The authors underline the importance of correct respiratory assistance to prevent onset of cardiological alterations.

Cardiomyopathies↗
PubMedDate not supplied

[Early-onset hyperthyroidism with muscle involvement: a report on a patient].

A case of Graves' disease in a 2 years child old is reported. He presented tachycardia, loss of weight, anxiety and gait abnormality. The serum free T3 and T4 and thyrotropin receptor antibodies values were elevated, TSH was not measurable. The EMG was abnormal with short duration motor unit potentials.

Antithyroid Agents↗
PubMedDate not supplied

[Melnick-Needles syndrome. Report of a case].

Melnick-Needles osteodisplasty is a X-linked dominant syndrome characterized by generalized bone dysplasia and abnormal facies. The Authors report on a 13 year old girl affected by severe valgus. At clinical examination the patient showed exophthalmos, full cheeks and micrognathia. Radiological examination revealed sclerosis of the skull base and mastoids, bowed radius and ulna (S-shaped), coxa valga and abnormal vertebral.

Adolescent↗