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Biomedical subjects

S Rampini

Publications and source records attributed to S Rampini.

At least 19 recordsLinked to original sources
PubMed1997

Marked changes of lipid levels during puberty in a patient with lipoprotein lipase deficiency.

UNLABELLED: Clinical and biochemical characteristics of a female patient with familial lipoprotein lipase deficiency have been followed in short intervals before and during puberty. The proband is compound heterozygote for two missense mutations in the lipoprotein lipase gene. One mutation occurs in codon 250 (Asp250-->Asn), the other is in codon 410 (Glu410-->Lys). The residual lipoprotein lipase activity in the proband is less than 10% of controls. Before puberty the proband usually presented with moderate isolated hypertriglyceridaemia. During the initial phase of puberty a dramatic increase in the plasma concentration of both cholesterol and triglycerides was observed. During the second half of puberty a reduction of cholesterol but not of triglycerides was noticed. CONCLUSION: These findings show that the phenotypic expression of familial chylomicronaemia can be modified to a large extent by hormones. Furthermore they demonstrate the need for a closer clinical observation of type I patients during puberty.

Adolescent↗
PubMed1987

[Mucopolysaccharidosis 6-A (Maroteaux-Lamy disease): comparison of clinical and pathologico-anatomic findings in a 27-year-old patient].

The autopsy of the 27-year-old patient suffering from a severe form of mucopolysaccharidosis type VI-A (Maroteaux-Lamy) described in the article by Rampini et al. revealed the compressive cervical myelopathy (C1) to be due to a severe, slit-like deformity of the vertebral canal which was due to a massive thickening of the ligaments, dislocation of the posterior arch of the atlas and broadening of the dura. The massive, generalized disorder of the enchondral ossification involving mainly tubular bones and spine, led to short stature, arthrosis of large joints, and to an angular thoraco-lumbar kyphoscoliosis. Our patient had a massive V-shaped stenosis of the upper third of the trachea. The atrio-ventricular valves of the heart were thickened, and there was fibrosis of the endocardium. The cardiac conduction system displayed fibrosis and foam cell transformation of the fibroblasts in the bundle of His, a lesion not previously reported. Light and electron microscopic investigation showed a massive increase of mucopolysaccharides mainly in the matrix of the fibrous tissue and of the cartilage. Furthermore, the fibroblasts and chondrocytes as well as the hepatocytes and the ganglion cells of the central nervous system contained increased amounts of glycosaminoglycans.

Adult↗
PubMed1986

[Mucopolysaccharidosis IV-A (Maroteaux-Lamy disease, severe form): incipient compressive myelopathy, cerebrospinal fluid fistula and tracheal stenosis in an adult patient].

A 25-year-old male with the severe form of Maroteaux-Lamy disease (mucopolysaccharidosis VI-A) developed rhinoliquorrhea of undetermined origin. The head was held permanently in extension, and there was both inspiratory and expiratory stridor. Flexion of the head worsened the stridor and caused dyspnea. Radiological examination showed a massive narrowing of the trachea and a marked retropharyngeal and retrotracheal swelling. Hyperreflexia and slight impairment of the sensation of the lower limbs were found on neurological examination. Computed tomography revealed hydrocephalus and extreme narrowing of the subarachnoid space in the region of the occipito-cervical junction, caused by marked epidural soft tissue thickening and a dysplastic arch of the atlas protruding dorsally into the foramen magnum, and displacement of the cervical spinal cord. At the age of 26 years rhinoliquorrhea suddenly stopped and the patient developed acute signs of occlusive hydrocephalus. Emergency ventriculo-peritoneal shunting was performed.

Adult↗
PubMed1986

[Infantile cataract, hypertrophic cardiomyopathy and lactic acidosis following minor muscular exertion--a little known metabolic disease].

Three children from two unrelated families were found to be suffering from a hitherto little-known disorder. Infantile cataract was the primary symptom at the age of 3 months, progressed quickly and necessitated surgery. At the same age, muscular hypotonia was prominent and delayed gross motor development. At preschool and school ages muscle strength and exercise tolerance were reduced, and slight muscular exercise caused marked lactic acidemia. Subsequently, hypertrophic cardiomyopathy was discovered by echocardiography, though with no signs of cardiac obstruction at that time. There were no neurological symptoms. Intellectual development was normal. The disorder is inherited as an autosomal recessive. It can be recognized from the combination of infantile cataract, muscular hypotonia, cardiomyopathy, and lactic acidosis, which, however, must be looked for carefully. Early diagnosis is mandatory for genetic counseling. The ophthalmologist holds the key to diagnosis.

Acidosis, Lactic↗
PubMed1985

[Acquired immunodeficiency syndrome in a child of Swiss origin whose mother died from AIDS].

Report of a now 2 8/12-year-old girl, who presented at the age of 8 months with chronic progressive pneumonia, mucocutaneous candidiasis, diarrhea, failure to thrive and a non-progressive paraplegia. The child's mother presented AIDS with pneumocystis carinii pneumonia and progressive general paralysis one year after the beginning of the child's disease and died within a few months. Additional findings in the child include lymphopenia, hyperimmunoglobulinemia, cutaneous anergy and an abnormal T helper/T suppressor cell ratio. HTLV-III antibodies were positive (ELISA and Western blot virus strip RIA). Prophylactic treatment with Co-trimoxazole relieved pulmonary infections but failure to thrive remained unchanged in spite of a continuous nutritional support. A vertical mode of transmission of AIDS from mother to child seems very probable.

Acquired Immunodeficiency Syndrome↗
PubMed1983

Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide.

A boy, aged 7 months, of consanguineous parents presented with an acute onset of vomiting, fever, nonketotic hypoglycemia and acidosis and died from cardiac arrest after ventricular fibrillation. He had hepatomegaly and echocardiographically a non-obstructive cardiomyopathy. Autopsy was not allowed. After birth the child had suffered from a severe respiratory distress syndrome, transient metabolic acidosis and had a sweaty feet odour. Later on, development was retarded with a severe muscular hypotonia. Post mortem, numerous unusual organic acids were found in high concentrations in urine, e.g. dicarbonic acids, 2-hydroxyisobutyric, isovaleric, 3-hydroxyisovaleric acid, N-acyl glycines, isovalerylglutamic acid and sarcosine. This pattern indicated deficiencies of several acyl-Co A dehydrogenases in the metabolism of leucine, isoleucine, valine, lysine, short-chain fatty acids and sarcosine. This could be confirmed using cultured skin fibroblasts which were shown to degrade the corresponding labeled substrates insufficiently to 14CO2. It is assumed that the functional multiple acyl-Co A dehydrogenation deficiency is caused by a deficiency of a common link in the electron transfer system of these dehydrogenases which is inherited autosomal recessively in this family. Among the 12 patients reported, 7 died within the first 5 days of age.

Cardiomyopathies↗
PubMed1981

[Dyggve-Melchior-Clausen syndrome. Case report and review of the literature].

The Dyggve-Melchior-Clausen syndrome is inherited in an autosomal recessive mode and is clinically characterized by mental retardation, small stature mainly due to a short vertebral column with thoracal kyphosis, protruding sternum, reduced articular mobility, and in most cases also by microcephaly. Specific radiologic findings concern the vertebral column, the pelvis, and the hands. A patient suffering from this syndrome is presented, the literature is summarized, and the clinical and radiologic manifestations are reviewed. As in two cases studied by others [27], the incorporation of radioactive sulphate into the mucopolysaccharides of the fibroblasts was normal in our patient. The activity of arylsulphatase B in the fibroblasts, however, was reduced as in the leucocytes of three reported cases [21]. These observations suggest that an as yet undefined specific sulphatase could be of importance for the pathogenesis of this condition.

Abnormalities, Multiple↗
PubMed1978

Congenital pseudohypoaldosteronism: case report and review. Effect of indomethacin during sodium chloride depletion.

A newborn boy (birth weight 2550 g) presented from the first days of life with poor drinking, moderate vomiting and persistent weight loss. On hospital admission at age 4 weeks, there were severe dehydration, dystrophy and electrolyte disturbances (Na 107, Cl 80, K 5,4 mval/l). The usual causes of salt wasting were excluded, but plasma renin activity, plasma aldosterone and urinary aldosterone-18-glucuronide were markedly increased. DOCA had no salt-retaining effect, but a sodium chloride supplement of 3 g per day improved the clinical condition dramatically and normalized the electrolyte values. With this treatment, plasma renin activity and aldosterone were normal or almost normal beyond the age of 6.5 months, but urinary aldosterone-18-glucuronide remained slightly increased. Considerable augmentation of the plasma renin activity and of urinary aldosterone-18-glucuronide, but no clear salt loss were induced by spironolactone. With salt restriction, there was evidence for marked salt loss. Its progress could be inhibited by administration of indomethacin. Since indomethacin inhibits the synthesis of prostaglandins with saluretic activity, it is probable that the prostaglandins participate in the pathogenesis of the salt wasting in pseudohypoaldosteronism.

Adrenal Insufficiency↗
PubMed1976

Congenital bilateral anorchia in childhood: a clinical, endocrine and therapeutic evaluation of twenty-one cases.

An evaluation of twenty-one boys, including a discordant pair of identical twins, is presented in whom bilateral anorchia was found with a negative family history and without history of breech presentation or of postnatal testicular trauma, torsion or orchitis. The most likely cause is prenatal testicular torsion. The incidence of the condition in our hospital is 1 in 177 cases of cryptorchidism. Prepubertal growth was normal before treatment, and testosterone replacement therapy allowed a normal pubertal growth spurt and skeletal maturation. Although demonstrable basal urinary testosterone was found in the subjects with a postpubertal bone age, most patients tested showed no increase after stimulation with human chorionic gonadotrophin. In the presence of a normal penis and scotum, such findings, together with a high basal FSH and an increased response of plasma LH to LHRH, make surgical exploration unnecessary. In the rare patient who shows a positive but subnormal response of testosterone to HCG, Leydig cells are presumed to be present either ectopically or in rudimentary testes, and further surgical exploration is indicated.

Adolescent↗