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Biomedical subjects

L Pavone

Publications and source records attributed to L Pavone.

155 records · Page 9Linked to original sources
PubMedDate not supplied

Congenital bone malformations in patients with neurofibromatosis type 1 (Nf1).

To address the prevalence of congenital bone malformations in neurofibromatosis type 1 (Nf1; compared with Nf1 bone anomalies and tumors), we studied the Nf1 population of 135 children (70 boys, 65 girls) seen at the neurofibromatosis clinic, University of Catania, Italy, in the period 1990 through 1996. Twelve (8.8%) of the 135 children had congenital bone malformations: unilateral or bilateral postaxial polydactyly type A (n = 1) and type B (n = 1), bilateral postaxial polydactyly type A in association with preaxial polydactyly type 1 (n = 1) and bilateral preaxial polydactyly (n = 1); clynodactyly (n = 1); multiple segmentation anomalies of the vertebrae (n = 6), and complex costovertebral anomalies (n = 1). We found a higher frequency of polydactyly (2.9%) in comparison to that in the general population (0.014-0.12%) and in our national (0.027%) and regional (0.066%) population, and a higher frequency of vertebral (5.1%) and costovertebral (0.7%) malformations. This is the first study to state the overall prevalence of congenital bone malformations in an Nf1 population. Interestingly, polydactyly (postaxial type) and Nf1 was previously reported only once.

Adolescent↗
PubMedDate not supplied

[A 'lucky' patient].

A 72-year-old male diabetic patient admitted to our operative unit of nephrology and dialysis underwent hemodialytic treatment because of rapidly progressive renal failure. A moderate hypertensive state was associated to nephrotic proteinuria and microematuria. Renal angiography showed a severe stenosis of the right renal artery and a smaller left kidney. Right renal artery stenting induced a significant reduction in serum creatinine (Cr) and the patient discontinued with the dialytic treatment.

Acute Kidney Injury↗
PubMedDate not supplied

[Therapy of infantile spasms (West syndrome) with sodium dipropylacetate].

The authors report the results obtained in 42 patients affected by infantile spasms syndrome during treatment with Sodium Dipropylacetic acid. The subjects were divided into two groups according to the aetiology: idiopathic and secondary. In the first group the use of DPK as determined the disappearance of the seizures in 6 cases (40%), reduction of the crises beyond 50% in 7 cases (46.6%), while in 2 subjects (13.3%) the crises persisted. In the secondary group the crises ceased in 3 cases (11.1%), in 17 (62.9%) there were a reduction of the crises beyond 50%, no response to the drug was observed in 7 subjects (25.9%). In 10 patients the anticonvulsant treatment was progressively diminished and was substituted with hormonal treatment. The long term follow up (1-6 years) gives the following results: the seizures persisted in 2 cases (18.18%) among the idiopathic form and in 6 cases (28.57%) among the secondary group. Mental retardation was found in 4 subjects (36.36%) among the idiopathic group and in 12 patients (57.14%) among the secondary group. The authors shortly report the side effect of the hormonal treatment: they prefer the initiation of treatment of I.S. with anticonvulsant drug and suggest to resort to the ACTH when the initial treatment is unsuccessful.

Adrenocorticotropic Hormone↗
PubMedDate not supplied

[Neurologic emergencies in children].

Neuropediatric emergencies are reviewed. In particular in this topic the Authors point out the diseases in which an immediate treatment is required. Hypoxic ischemic encephalopathy, acute neonatal metabolic disease, seizures disorders and status epilepticus, meningitis, encephalitis, post viral neurological syndromes, acute hemiplegia, coma, acute endocranial hypertension are discussed with special emphasis on the possible causes and treatment.

Brain Diseases↗
PubMedDate not supplied

[Hypertrophic cardiomyopathy (probably secondary) in an infant with Stickler's syndrome. The physiopathological aspects].

Stickler syndrome is a hereditary connective tissue disease transmitted by AD pattern. It is characterized by peculiar facies with bone and ocular anomalies. Heart anomalies (except mitral valve prolapse) are an uncommon features that may be associated. The authors report on a 4 months patient affected by this syndrome who had hypertrophic cardiomyopathy. Pathogenetic mechanism of this anomaly is discussed.

Abnormalities, Multiple↗
PubMedDate not supplied

[The pathogenesis of cerebral malformations].

Although data on the true incidence of brain malformation pathologies do not exist in Italy, such pathology is nevertheless becoming a question of current debate thanks to new neuroradiological and contrastographic techniques. For some of these brain malformations the time when the agent causes the anomalies and the various causative agents have been well identified, whether materno-foetal in origin or multifactorial. Subjects with brain malformations must be followed-up clinically with instrumental tests.

Brain↗
PubMedDate not supplied

[Recurrent facial paralysis in a child with renovascular hypertension].

Hypertension is rarely observed in childhood. The renal diseases are the most common causes of this condition. Headache, seizures, cranial nerve palsy and hemiplegia are the most frequent neurological manifestations. The Authors report on a patient with a severe involvement of central nervous system due to renal hypertension. The main clinical features were recurrent episodes of facial nerve palsy.

Child, Preschool↗