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Biomedical subjects

A Iester

Publications and source records attributed to A Iester.

61 records · Page 4Linked to original sources
PubMedDate not supplied

[Williams syndrome. Considerations on an unusual case].

We report one case of WS, who came at our first observation at age of eight for mental retardation and congenial cardiopathy of unknown origin. Echocardiography and Doppler examination showed immediately isthmic aortic stenosis, and therefore aortic plastic surgery was performed, with a good post-operative result. The case aroused the interest of the Authors, owing to the late diagnosis of aortic coarctation, which, however, did not produce hemodynamic alteration.

Angiocardiography↗
PubMedDate not supplied

[18q syndrome with deficiency of myelin basic protein (MBP)].

The Authors present a patient with 18q- Syndrome in which lymphatic cell karyotype could resume development of extrapyramidal degeneration signs before they appeared. Severity range of phenotypic manifestations in the 18q- syndrome is correlated with chromosomic breakpoint and with genetic background. Many chromosome 18's distal arm genes have been mapped Myelin Basic Protein gene (MBP) has been located in 22-23 position; it forms about 30-40% of myelinic sheath proteins. Failure in MBP gene expression would be correlated in the central white matter with extrapyramidal system degeneration signs: in 18q- patients with involuntary movements studied by MRI or by post-mortem autopsy unmyelinated areas in central white matter tracts have been put in evidence. As MBP absence in peripheral nervous system does not appear to have a functional effect, it has been suggested that some specific component of peripheral myelin is functionally equivalent to MBP and capable to substitute this protein in its absence.

Age Factors↗
PubMedDate not supplied

[The use of n-3 fatty acids in chronic juvenile arthritis].

Juvenile Chronic Arthritis (JCA) is a chronic disease still lacking of a complete therapeutic solution. Therapy traditionally used consists of non steroidal anti-inflammatory drugs and in some selected cases of gold salt and immuno-suppressive agents. Recently it has been described the possibility of a dietary supplementation of n-3 fatty acids in addition to conventional pharmacotherapy. The aim of our study is to demonstrate the real efficacy of this dietary supplementation on JCA symptoms. The group of 16 patients treated, compared to a control group of 16 patients, has shown a significative decrease of CRP.

Adolescent↗
PubMedDate not supplied

[Thrombocytopenia, arthritis and enteropathy: a casual association or the expression of a unique entity?].

The arthropathy of inflammatory bowel disease (IBD) is a noninfectious arthritis occurring before or during the course of either regional enteritis or ulcerative colitis. Two patterns of joint disease are described: a chronic asymmetric oligoarthritis affecting peripheral joints, and a spondylo-sacroiliitis similar to the idiopathic type. Different criteria for diagnosis and classification (ACR and EULAR) of arthropathies associated with IBD are used and this is not helpful in order to a correct nosography. An unusual case of ulcerative colitis with thrombocytopenia and oligoarticular arthritis at onset, 4 and 2 years before the assessment of IBD, is reported. Moreover the arthritis had characteristics much more similar to a juvenile chronic arthritis (JCA) with pauciarticular onset of type I (FR-; ANA+) than to an enteropathic arthropathy.

Arthritis, Juvenile↗