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T Pampols

Publications and source records attributed to T Pampols.

11 recordsLinked to original sources
PubMed1999

Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicism.

Peroxisomal disorder phenotypes are the result of mutations that cause defective peroxisomal assembly or alterations in the import mechanism of peroxisomal proteins that lead to multiple peroxisomal dysfunctions, or the result of a peroxisomal enzymatic deficiency with a single peroxisomal dysfunction. With complementation analysis, 16 groups have been found. Assignment of the genetic defect has been described for some of the complementation groups. We describe the clinical evolution and follow-up over 10 years of a patient who belongs to complementation group 4, although he showed a milder clinical course. It has been found in fibroblasts different peroxisome populations, normal processing and expression of beta-oxidation PTS1 and PTS2 proteins, abnormal ALD protein distribution and normal plasmalogen biosynthesis; abnormal beta-oxidation metabolites have also been detected in serum. Ultrastructural studies in liver showed peroxisomal mosaicism as in fibroblasts. It has been taken into account that peroxisomal mosaicism may lead to variability in peroxisomal diagnostic parameters, making difficult the final diagnosis in these patients.

Adolescent↗
PubMed1997

ALDP expression in fetal cells and its application in prenatal diagnosis of X-linked adrenoleukodystrophy.

X-linked adrenoleukodystrophy (X-ALD) is due to an impairment in the peroxisomal beta-oxidation of very long straight chain fatty acids (VLCFAs) and the gene involved encodes a 75 kD protein (ALDP). Prenatal diagnosis is usually made by measurement of VLCFAs in cultured amniotic fluid cells (CAF) and chorionic villus cells (CCV), but some misdiagnoses have been reported. For this reason, some authors suggest the use of more than one strategy to minimize the risk of pitfalls. In this study we show, by immunochemical techniques, that ALDP is expressed in chorionic villi and amniotic cells and can be used for prenatal diagnosis of X-ALD in kindreds where ALDP is absent (69-84 per cent), together with VLCFA determination. Moreover, we demonstrate that the culture medium modifies ALDP expression; therefore, it is a factor that must be taken into account when a prenatal diagnosis is done.

ATP Binding Cassette Transporter, Subfamily D, Mem↗
PubMed1993

Diagnosis of X-adrenoleucodystrophy phenotypic variants.

We report the radiological and biochemical data of a familial X-adrenoleucodystrophy with an extreme phenotypic variability, in which the diagnosis of several affected members was delayed for several years. The propositus developed a progressive dementia, while two of his brothers were diagnosed of primary Addison's disease several years previously. MRI in two cases with different phenotypes revealed hyperintense diffuse white matter lesions, and the diagnosis was confirmed by increased serum levels of very long chain fatty acids. We conclude that X-adrenoleucodystrophy should be included in the differential diagnosis of adult Addison's disease even though no neurological involvement or family history is recorded, and that MRI is a useful tool for diagnosis and follow-up of neurological involvement in this disease.

Addison Disease↗
PubMed1984

[Sandhoff disease].

A new case of Sandhoff disease is presented (gangliosidosis GM2 type II or variant O) with enzymatic study in serum and leukocytes from the patient, as well as in serum from the newborn's, father and mother. The clinical expression, enzymatic study and evolution are discussed comparing them with Tay-Sachs disease (gangliosidosis GM2 type I o variant B).

Female↗
PubMed1984

[Sandhoff's disease (GM2 gangliosidosis, type II). Presentation of a case with a clinical and biochemical study. Carrier detection].

A case affected by Sandhoff's disease is reported, with clinical and biochemical studies. In the propositus, total absence of hexosaminidases is reported. In parents hexosaminidase A is present, but hexosaminidase B is decreased. In the carriers there is a total low activity of hexosaminidase and a lower proportion 20% of hexosaminidase is confirmed.

Female↗
PubMed1979

[Gm1 gangliosidosis types 1 and 2 (author's transl)].

Two cases of gangliosidosis due to aggregates of Gm1 are described. The first patient was a female infant with noticeable retardation in psychomotor development, coarse facies, hepatomegaly, and X-rays showing skeletal anomalies in the large bones, vertebral column, cranium and ribs. She died at the age of 10 months of a septic condition. The second patient was a male infant; deterioration in psychomotor development was first noticed 8 months after birth and this progressed slowly to arrive at a vegetative state with convulsions and myoclonus. The child died at the age of 4 years. There were no signs of enlargement of visceral organs but a cherry red stain was observed in the ophthalmologic examination. In the first case, necropsy revealed the presence of a deposit substance in the histiocytes of the hepatic sinusoids, spleen, pancreas, thymus, septi and pulmonary alveoli, intestinal lamina propria, epithelial cells of the renal glomeruli, and in the neurons and glial cells of the brain. The same deposits were observed only in the neurons and glial cells in the second case. Ultrastructural examination showed the presence of typical cytoplasmic membranous bodies in the central nervous system of both patients. The beta-galactosidase activity in the urine of both patients during life was zero. There was a higher than normal total amount of gangliosides in brain tissue samples from both (1906.7 and 2459.9 NANA/g respectively) as compared with normal values (724.0). This increase was proportional to the rise in Gm1 ganglioside (76.8 and 89.6 percent molar respectively) as compared to control (27.0). These clinical, morphologic, and biochemical data characterize both types 1 and 2 of gangliosidosis due to Gm1 aggregates.

Cerebral Cortex↗
PubMed1977

[GM2 gangliosidosis diagnosis and carriers detection by fractionation of N-acetyl-beta-D-hexosaminidase by electrophoresis on cellulose acetate gel (author's transl)].

A method is described for the fractionation of GM2 gangliosidosis diagnosis and carriers detection by fractionation of N-acetyl-beta-D-Hexosaminidase by electrophoresis on cellulose acetate gel. The hexosaminidase activity is resolved into three bands that are quantified by a densitometric procedure. The methods is applied to normal controls, normal pregnant women, patients of Tay-Sachs disease, heterozigous carriers of Tay-Sachs disease, amniotic fluid, uncultured amniotic cells. The results are compared with those obtained by the "heat inactivation method".

Amniotic Fluid↗