PubMed Health⌕ Search

Biomedical subjects

C Lenti

Publications and source records attributed to C Lenti.

33 records · Page 2Linked to original sources
PubMed1991

[Phakomatosis in childhood. Clinical and instrumental observations of 11 cases].

Taking the institution of the Italian Neuroectodermosis Register (Fois, April 1987) as a starting point, the Authors reviewed their own case-records, including six cases of neurofibromatosis and five cases of tuberous sclerosis, observed during the period 1982/88, and stress the need for early diagnosis (unfortunately often neglected), indispensable both for an effective prevention of any pathological involvement and for precise genetic counselling, susceptible of further improvements thanks to more and more advanced diagnostic techniques.

Adolescent↗
PubMed1991

Rhizomelic chondrodysplasia punctata: 16-year follow-up of a child from birth.

A boy with rhizomelic chondrodysplasia punctata, diagnosed on the laboratory evidence of a high plasma concentration of phytanic acid and a low erythrocyte concentration of plasmalogens, has been followed from birth to the age of 16 years. The clinical pattern (somatic, skeletal and neurological) tallies with published findings in this disease. Unusual findings are the associated epilepsy, confirmed by EEG, and the long survival. CT brain scan and MRI showed cortical and subcortical atrophy but not gyral abnormalities or demyelination.

Brain↗
PubMed1990

HLA study of 21 families with two or more members affected by febrile convulsions.

21 Italian families with at least two members who had had febrile convulsions (FC) were HLA-typed for class I antigens. A total of 49 subjects and 43 close relatives (parents or sibs) were examined. No single antigen or haplotype was statistically more frequent among pooled FC subjects. The study, however, is not conclusive regarding a relationship between FC and HLA region because of the possible genetic heterogeneity of proneness to FC. In a significant proportion of cases two FC affected sibs had unaffected parents: besides the models of inheritance so far proposed for this pathology, the involvement of two complementary dominant factors was also considered. The report includes uncommon cases: a family where one FC affected parent transmitted the same HLA haplotype to all three affected sibs; two more families, with both parents and progeny affected by FC. The HLA typing of all members of these unusual families, although not furnishing relevant information at present, may be of value to other investigators.

Female↗
PubMed1990

Fragile-X mental retardation in a large five-generation family. A clinical and cytogenetic study.

A number of problems concerning both clinical and genetic or cytogenetic aspects of the fragile-X syndrome remain unsolved. In the present work, a large 5-generation fragile-X family has been clinically and cytogenetically investigated. The results of our study indicated that an unusually high proportion of affected males was present in the family examined; all fragile-X-positive males were profoundly retarded and showed the phenotype typically described for this syndrome; moreover, we observed a variability of penetrance within the pedigree and all fragile-X-positive females in the 4th and 5th generation had some degree of mental impairment. A multistep mutation model has been proposed in order to explain some of these findings.

Adolescent↗
PubMedDate not supplied

Proteinuria in focal segmental glomerulosclerosis: role of circulating factors and therapeutic approach.

The clinical course of primary Focal Segmental Glomerulosclerosis (FSGS) is frequently complicated by nephrotic range proteinuria and progression to renal failure. The high recurrence rate of the disease in transplanted kidney suggests the hypothesis that such patients have a circulating factor that alters glomerular capillary permeability. In recent years some authors found that serum from patients with FSGS increases glomerular permeability to albumin and partially identified the permeability factor (PF) as a protein of 30-50 Kd m.w. The removal of this protein by means of Plasma Exchange (PE) or plasma Immunoadsorption by Protein A (IA) decreased proteinuria. In this report we provide preliminary data about the prevalence of PF and the therapeutic effect of its removal by IA, in 3 pts with recurrence in the transplanted kidney, and 4 with FSGS of the native kidneys. They were resistant to corticosteroids (CS) and immunosuppressive (IS) therapy. 10 IA sessions were performed in 4 weeks: if a remission was achieved IA was gradually tapered. The level of PF in the serum was measured by an in vitro assay to determine the glomerular permeability to albumin. The FSGS was histologically proven in all cases and the degree of evolution was evaluated. PF levels, serum creatinine, daily proteinuria and serum albumin were monitored. The 3 patients with recurrent FSGS had a normalization of the PF levels; 2 had a clinical remission. In FSGS of native kidneys PF was elevated in 3/4 cases; 1 had a clinical remission; 2 with extensive sclerohyalinosis and 1 without PF levels did not improve. Our results confirm that most patients with FSGS have high PF serum levels and suggest that its removal can be beneficial.

Adolescent↗
PubMedDate not supplied

Color-Doppler in the imaging work-up of primary hyperparathyroidism.

Primary hyperparathyroidism (PHP) is a rare disease that must be suspected in all the cases of recurrent calcium nephrolithiasis, and that may be totally corrected by surgery. The imaging techniques permit to locate the hyperplastic gland or adenoma before intervention, but their usefulness in patients without a history of previous neck surgery is still debated. Several imaging techniques have been proposed with the aim of locating parathyroid hyperfunctioning glands, including high resolution sonography (US) with color-Doppler (CD), scintigraphy, computed tomography (CT) and magnetic resonance imaging (MRI). We report here a case of recurrent calcium oxalate nephrolithiasis sustained by PHP, which demonstrates how US coupled with CD and echocontrast enhancement is useful in the preoperative location of parathyroid glands. US is the first choice technique in the evaluation of PHP because it is less expensive and useful in detailing lesions of the neck when carried out by a skilled operator. CD should be regarded as a useful complement of US enhancing its sensitivity (80 vs 90%) especially in the cases of associated thyroid gland diseases. Tc-99m SESTAMIBI scintigraphy coupled with MRI is mandatory in high risk surgical patients, namely in those undergoing repeated neck surgery. In conclusion, considering that surgeon must explore all the four parathyroid glands (because of the possibility of multiple adenomas or hyperplasia) a well definite location of the adenomatous lesion may reduce the risks and the time of intervention, and allow the use of alternative procedures, such as videoscopic surgery. On this view and in terms of economy, only US and CD coupled with Tc-99 SESTAMIBI scintigraphy should be considered before surgery.

Adenoma↗
PubMedDate not supplied

[Follow-up and prognosis of congenital hypothyroidism].

Neonatal screening of congenital hypothyroidism has been recently extended to the most of North America, Australia, Europe, and to several Italian areas. Before screening programs, several Authors reported neurological defects and behavioral disturbances also in patients whose treatment has been precocious, thus stressing the importance of an antenatal thyroidal defect. We have therefore setted up a follow-up program to evaluate the prevalence and to treat such disturbances in hypothyroid children. In this report we describe the program, present the most significant preliminary data and discuss the prognosis of hypothyroid patients detected by screening programs.

Adolescent↗
PubMedDate not supplied

A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2.

We report here that some patients affected by schizencephaly are heterozygous for mutations in EMX2, a homeobox gene implicated in the patterning of the developing forebrain. Schizencephaly is a very rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. Large portions of these may be absent and replaced by cerebrospinal fluid. We previously reported the presence of EMX2 mutations in 7 out of 8 sporadic cases of schizencephaly. We now extend this analysis to 10 additional patients, including 2 brothers. Six patients were found to be heterozygous for de novo mutations in EMX2. In particular, the 2 brothers show the same mutation affecting the splicing of the first intron, while this mutation is absent in their parents and in the 2 unaffected siblings.

Base Sequence↗