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Biomedical subjects

D Tomaccini

Publications and source records attributed to D Tomaccini.

At least 19 recordsLinked to original sources
PubMed1992

[Correlation of the clinical phenotype with a pericentric inversion of chromosome 9].

Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations. It is considered as a paraphysiological variant of a normal karyotype and it is possible to find it as occasional report in healthy subjects. In the last ten years different signals have appeared in literature, concerning carriers of pericentric inversion of chromosome 9, who showed different anomalies of the clinical condition. Today it is difficult, because of the rarity of the data to establish if a true correlation exists between phenotypical anomalies in the subjects studied and the pericentric inversion, or if they are only casual associations. We are trying to find possible correlations between the chromosomal rearrangements and eventual congenital defects. We describe 11 subjects with pericentric inversion of chromosome 9 examined for the presence of dysmorphic signs, mental retardation and repeated miscarriage.

Abnormalities, Multiple↗
PubMed1992

[Familial segregation of simple and complex chromosomal rearrangements].

We report our observations about familial segregations of chromosomal aberrations: the simple forms and complex rearrangements. Congenital malformations and mental retardation, can be present both in unbalanced and in balanced translocations. Various hypotheses have been proposed to explain this phenomenon: in particular a possible "position effect" or genic mutation or genomic imprinting. In our study we have used both standard techniques and techniques with high resolution banding to investigate if the rearrangements were balanced or not. Molecular study and gene dosage have been used when possible, to define the correlation with the clinic phenotype.

Abnormalities, Multiple↗
PubMed1989

Growing skull fractures: progressive evolution of brain damage and effectiveness of surgical treatment.

The growing skull fracture of childhood is a well-known but variously interpreted syndrome. Attempts have been made to find different pathogeneses for clinical and pathological patterns that are really successive phases of a single process, arising from the interaction of three basic conditions: (1) head injury with a large gaping fracture; (2) corresponding dural tear; (3) occurrence nearly always in infancy (the first year of life or period of maximum brain growth). This combination of factors alters the normal distribution of the intracranial pressure vectors and the fracture behaves like a "neosuture" with abnormal growth of the skull on the injured side. Simultaneously, the ventricular system tends to deform, dilating and shifting towards the side of the fracture. Three cases, successfully treated at a very late stage, are described. The good surgical results confirm the validity of the surgical method and its underlying theoretical basis.

Adolescent↗
PubMed1988

Intractable epilepsy: etiology, risk factors and treatment.

The data emerging from our study are the following: the presence of an identifiable cause is important: complications like tuberous sclerosis or signs of marked cerebral damage represent an adverse risk factor for IE. The presence of epilepsy among relatives, evidence of pre- or perinatal cerebral damage, mental retardation, and early onset, long periods of uncontrolled seizures before starting an adequate therapy and frequency of seizures appear to be indicative of an adverse prognosis, since differences between the two groups of responsive or unresponsive patients are statistically significant. On the contrary, the occurrence of febrile convulsions in the past history does not seem to have an adverse prognosis. Temporal lobe epilepsy and IS bear the worst prognosis. ME, CPS, GTCS, SPS, LGS and PM have a progressively better outcome in responsiveness to AEDs. Concerning therapy in patients with IE, studies indicate the results of high dose monotherapy appear to be equal or better than with polypharmacy. Because of the gravity of the situation, trials with unconventional drugs have been performed, but it is too early to draw definite conclusions about the long-term usefulness of most of them. In conclusion, our data indicate that the appearance of an IE can be predicted utilizing the above mentioned criteria, considered either alone or in combination. The issue of IE remains undoubtedly an important one among the group of convulsive disorders. Further studies considering a greater number of patients and new therpeutic strategies are to be recommended.

Anticonvulsants↗
PubMed1980

Supratentorial hemangioblastoma in childhood.

Only 2 cases of supratentorial hemangioblastoma in children are recorded. We report a third: an occipital cerebral hemangioblastoma in a 9-year-old girl. The tumor had a solid subpial portion continuous with a cystic intraparenchymal portion. It had no dural insertion, although it was in contact with the falx. A year after complete removal there is no sign of recurrence.

Brain Neoplasms↗
PubMed1979

Contribution to the study of craniostenosis: disturbance of the cerebrospinal fluid flow in oxycephaly.

In 6 cases of oxycephaly, isotope (RIHSA) cisternography showed an altered CSF circulation with ventricular reflux or cisternal block and accumulation of the contrast at lumbosacral level. These changes express increased absorption of the CSF by the spinal arachnoid villi to compensate for reduced or nonexistent absorption by the subarachnoid villi of the vault, obstructed by chronic intracranial hypertension secondary to craniosynostosis. The possible clinical implications are outlined.

Cephalometry↗
PubMed1979

[Hydrocephalus and craniodiaphyseal dysplasia (author's transl)].

One case is reported of dilatation of the lateral ventricles in a patient suffering from craniodiaphyseal dysplasia, with follow up of one year. The pathogenic hypothesis personally proposed are: a) partial and intermittent compression of the aqueduct by a dolico-mega basilar artery; b) "cisternal hypofunction".

Bone Diseases, Developmental↗
PubMed1977

Histologic, microradiographic and electron microscopic investigations of bone tissue in a case of craniodiaphyseal dysplasia.

The results of histologic, microradiographic and electron microscopic investigations carried out on two bone biopsies pertaining to a case of craniodiaphyseal dysplasia are reported. They show that the affected skeletal segments are chiefly characterized by enhancement of bone volume, and defective calcification of the bone matrix. Moreover, interstitial calcification of skeletal muscle has been found.

Bone Diseases, Developmental↗
PubMedDate not supplied

Clinical findings in children with occipital paroxysmal discharges.

Occipital paroxysmal discharges (OPDs) have been related to a variety of clinical problems. To evaluate associated symptoms and patient outcome, we studied 293 children with OPDs. Follow-up of more than 6 months was available in 141 children. Mental retardation, neurological symptoms, behavior problems, ocular symptoms, and convulsions of various types were present. Eight patients had ictal visual phenomena consistent with the diagnosis of benign epilepsy with occipital spike and wave (BEOSW). In the 141 children with at least 6 months follow-up, 58 had other types of convulsions. Clinical and EEG normalization was observed in 25 and clinical normalization only in 17. The use of antiepileptic drugs did not seem to influence the outcome although seizure control was obtained in 26 patients. In all the cases where follow-up was 9 or more years, clinical normalization was observed. Clinical symptoms in these patients were quite heterogeneous and frequently not ictal. The disappearance of OPDs with increasing age points to their being "not lesional" in origin.

Adolescent↗
PubMedDate not supplied

[Multiple pterygium syndrome].

The authors relate about a non sporadic case of "Multiple pterygium syndrome" in a child born to consanguineous parents. Clinical features of the syndrome are: short stature, articular contractures, pterygia of the neck, axillae, elbows, facial anomalies, vertebral malformation, mental retardation. The syndrome, delineated as a distinct entity by Escobar, is a rare autosomal recessive disorder with a clinical heterogeneity, which is included within the "Arthrogryposis syndromes".

Abnormalities, Multiple↗
PubMedDate not supplied

[Empty sella syndrome: a cause of GH deficiency?].

A deficiency of growth hormone (GH) was detected in a male child with "empty sella syndrome" (ESS). Association between ESS and defeciences of pituitary hormones has been previously reported in adult subjects. It seems likely that GH deficiency is be related to ESS in the case described in this paper. An appropriate evaluation of the endocrine system seems suitable in this condition, since ESS in childhood is not to be regarded only from neuroradiologic point of view.

Child↗