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Biomedical subjects

G Parenti

Publications and source records attributed to G Parenti.

At least 109 records · Page 6Linked to original sources
PubMed1986

X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.

We report a large Italian pedigree in which five out of six males are affected by a syndrome, following an X-linked inheritance pattern, characterized by ichthyosis, hypogonadotropic hypogonadism, and anosmia. The concurrence of features of X-linked ichthyosis (XLI) with those of Kallmann syndrome, another disease often inherited as an X-linked trait, prompted us to perform biochemical, cytogenetic, and molecular studies in relation to the short arm of the X chromosome (Xp). Steroid sulphatase (STS) activity was found to be completely deficient in all affected members of the family. Prometaphase chromosome analyses of two obligate heterozygous women and one affected male showed normal karyotypes. Xg blood group antigen analysis and molecular studies employing cloned DNA sequences from the distal segment of the Xp (probes RC8, 782, dic56, and M1A), did not provide evidence for deletions or rearrangements of the X chromosome. The linkage analysis showed no crossovers between the disease, Xg, and DXS143, the locus defined by probe dic56, thus suggesting the possibility of a linkage between these two markers of the distal segment of Xp and the X-linked ichthyosis, hypogonadism, and anosmia syndrome.

Adolescent↗
PubMed1986

Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship.

Hereditary malformations of the external ear, such as microtia and meatal atresia, not associated with other congenital defects or syndromes, are rarely reported. Only a few familial cases have been described in which both dominant and recessive inheritance has been suggested. We report a sibship in which a wide variation of expression is present and recessive inheritance can be postulated.

Child↗
PubMed1985

Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency.

Complementation studies of steroid sulphatase were carried out in the heterokaryon population of fibroblasts derived from patients with X-linked ichthyosis and multiple sulphatase deficiency. The activity of steroid sulphatase of the fused cell population was constantly higher (approximately 2-5 fold) than that of the unfused cocultivated cells. The occurrence of complementation further supports the hypothesis that at least two different loci control the expression of steroid sulphatase in the human genome.

Female↗
PubMed1985

Growth disturbances following fractures of the femur and tibia in children.

During a period of 10 years we treated 855 children aged from 1 to 13 years suffering from diaphyseal fractures of the femur or tibia. From this material we were able to compile statistics regarding age, type and level of fracture, quality of reduction and duration of traction. From this material we were able to follow-up 357 fractures at a minimum of 3 and a maximum of 12 years with a view to evaluating the incidence of dysmetria in relation to age, level of fracture, and the presence of compensatory scoliosis. Our survey showed that lengthening due to growth disturbance following fractures is more frequent in fractures of the middle third of the bone in children in the 5-9 years age group. It also showed that spontaneous correction of axial deformities during growth is more likely to occur in the sagittal plane than in the frontal plane. The radiographic survey showed constant thickening of the fractured diaphysis with sclerosis of the load bearing cortex and thinning where the cortex is under tension.

Adolescent↗
PubMed1985

Osteogenesis imperfecta. A study of 10 cases.

From a retrospective study of 10 cases of osteogenesis imperfecta the authors have verified the usefulness of the classification proposed by Sillence. This has particular advantages in relation to correct prenatal diagnosis and genetic counselling.

Child↗
PubMed1984

Extra-intracranial arterial bypass in typical carotid reversible ischaemic deficits: long-term follow-up in 100 patients.

The long-term follow-up of 100 consecutive patients who suffered from a reversible ischaemic attack (RIA) in the carotid territory and were submitted to extra-intracranial arterial bypass (EIAB) surgery in seven Italian Neurosurgical Centres is reported. The preoperative angiographic and clinical features, and the surgical complications are reported. The follow-up ranged from two to seven years with a mean of thirty-five months. In this period in the territory served by the bypass only two completed strokes and six RIAs occurred. Four patients died, only one for cerebral ischaemic problems. The results of the present series have been compared with those of the literature: they appeared consistent with other surgical series and clearly better than those of medical treated patients. The EIAB can then be considered a good therapeutic choice for the treatment of RIAs in carotid territory.

Adult↗
PubMed1980

Phenobarbital prophylaxis of post traumatic epilepsy.

Phenobarbital (PB) was tested for its efficacy in averting post-traumatic epilepsy (PTE) in patients with non-missile head injuries. The protocol envisaged the administration of PB throughout a period of two years in randomly assigned doses ranging from 0.5 to 1.5 and from 1.6 to 2.5 mg/kg/day. The study included neurologic examination, EEG and plasma PB levels. Ninety patients, 83 of whom with serious head injury followed the prescribed treatment for the entire period. Two adult patients manifested seizures 5 and 10 months after the trauma. They were being treated with doses over 1.5 mg/kg/day. Another patient had a seizure six months after the end of the prophylaxis. Low doses of PB and monitoring permitted a reduction of side effects. The low incidence of PTE indicates that PB has an efficient prophylactic effect. The results also show that a low dosage has a favourable effect.

Adolescent↗
PubMedDate not supplied

Spontaneous arteriovenous fistula of the vertebral artery. Three case reports.

Three cases of spontaneous arteriovenous fistulas of the vertebral artery (VAF) are reported. In one case the only symptom was a cervical bruit; in the other two cases, symptoms of multiple cervical radiculopathy were also observed. Definitive diagnostic findings were obtained by Doppler ultrasonography, computed tomography, magnetic resonance imaging, and angiography. Clinical signs of radiculopathy disappeared after endovascular balloon occlusion of the fistula, in about 1 month. In one case the vertebral artery was occluded without clinical consequences.

Arteriovenous Fistula↗
PubMedDate not supplied

Congenital bilateral juvenile granulosa cell tumor of the ovary in leprechaunism: a case report.

We report on a case of leprechaunism. In addition to the typical clinical and biochemical features, a bilateral juvenile granulosa cell tumor of the ovaries and cytomegalovirus hepatitis were found. The granulosa cell tumor may result from the mitogenic effect of insulin at high concentration, which acts via a mechanism mediated by insulin-like growth factor I receptors.

Cytomegalovirus Infections↗
PubMedDate not supplied

Acute spontaneous subdural haematoma. Description of four clinical cases.

Four cases of acute spontaneous subdural haematoma are described. A review of the literature reveals the rarity of this pathology. The several etiological possibilities are discussed. The clinical onset may simulate other cerebrovascular diseases. The prognosis is correlate to the neurological findings at the operations.

Adult↗