PubMed Health⌕ Search

Biomedical subjects

L Pucci

Publications and source records attributed to L Pucci.

At least 19 recordsLinked to original sources
PubMed2005

Chromosome 18 aberrations and epilepsy: a review.

Epilepsy is commonly observed in patients with chromosomal aberrations. We evaluated epilepsy and electroencephalographic (EEG) features in a group of patients carrying aberrations of chromosome 18. Fourteen patients were recruited: five with an 18p deletion syndrome (18pDS); six with an 18q deletion syndrome (18qDS); two with trisomy 18p syndrome; and one with a 45,XY,t(17-18) (cen-q11.2) karyotype. Patients with 18pDS had neither epilepsy nor EEG anomalies; four patients with 18qDS had epilepsy with partial seizures occurring during infancy or early childhood. Partial seizures were also present in both patients with trisomy 18p. By contrast, mixed seizures were observed in the patient carrying a translocation between chromosomes 17 and 18. Our data and a re-evaluation of the literature suggest that epilepsy is infrequent in patients with 18pDS. Conversely, partial seizures and focal EEG anomalies may be observed in those with patients with 18qDS. Our observations suggest that the haplo-insufficiency of genes located on the long arm of chromosome 18 is more likely to be associated with epilepsy, than is haplo-insufficiency of genes located on the short arm. While further EEG/clinical investigations are needed to validate these observations, this study indicates a possible relationship between chromosome 18 genes and epilepsy.

Adolescent↗
PubMed2003

De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities.

A de novo, apparently balanced complex chromosome rearrangement (CCR) involving five chromosomes and six chromosome breakpoints was found in a child with Marfanoid habitus, kyphoscoliosis, axillary pterygium, camptodactyly, joint laxity, and mild mental retardation. Fluorescence in situ hybridization (FISH) revealed a simple translocation involving chromosomes 3 and 13, and a complex rearrangement involving chromosomes 4, 8, and 18 with four breakpoints.

Abnormalities, Multiple↗
PubMed2003

18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.

The 18q- syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine-year-old boy possessing a simple 18q- deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31-qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q- deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal.

Abnormalities, Multiple↗
PubMed2001

Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)].

We report on a 2-year-old girl with a de novo mutation [45,XX,der(5),t(5;14) (pter;q11.2)] with corpus callosum agenesis, multiple cysts (cerebral and cardiac), subtle eye abnormalities, and at least two different skin defects, strongly indicating neuroectodermal involvement, as a neuromuscular choristoma (hamartoma) and an eccrine hamartoma. Fluorescent in situ hybridization with different single-locus probes showed that chromosome 5 has a very small deletion, confined to a region composed of repetitive sequences. By contrast, the long (q) arm of chromosome 14 seems to be much more involved in the rearrangement, with partial monosomy spanning from the centromere to the D14S72 and D14S261 loci. The extent of the deleted region of chromosome 14 is approximately 16 cM. To our knowledge, this is the smallest reported deletion involving the chromosome 14q11.2 region to be associated with a developmental disorder resulting in variable eye, skin, and brain anomalies. We suggest that a new syndrome, mimicking in some ways the MLS phenotype, is caused by a deletion in the chromosome 14q11.2 region.

Abnormalities, Multiple↗
PubMed2001

Iohexol as a marker of glomerular filtration rate in patients with diabetes: comparison of multiple and simplified sampling protocols.

AIMS: To report on the reproducibility of iohexol glomerular filtration rate (GFR) estimation, to compare the plasma clearance of iohexol with that of[51Cr]EDTA and to evaluate the reliability of reduced sampling schedules in estimating GFR in Type 1 and Type 2 diabetes mellitus. METHODS: Agreement was assessed in 15 Type 1 and 26 Type 2 diabetics with creatinine ranging from 53 to 564 micromol/l. RESULTS: The regression between multiple-sample iohexol and[51Cr]EDTA clearances was 0.999 in Type 1 and 0.987 in Type 2 diabetes (P < 0.0001 for both). A seven-sample design and the three-sample approach by Brøchner-Mortensen were validated by comparison with the full-sample schedule in 87 patients (51 Type 1, 36 Type 2). Full-sample GFR was 80.3 +/- 43.8, seven-sample 79.5 +/- 43.9 (r = 0.990) and three-sample 79.8 +/- 45.2 ml.min-1.1.73 m-2 (r = 0.972). The coefficients of variation of GFR were 2.7 +/- 1.4% and 3.8 +/- 1.9% for the full-sample and the seven-sample approaches, respectively, and significantly higher for the three-sample design (6.9 +/- 3.4%, P = 0.0001). CONCLUSIONS: After iohexol injection, the Brøchner-Mortensen schedule does not provide an accurate estimate of GFR. The seven-sample approach gives acceptable errors and allows a good estimate of GFR throughout a wide range of renal function.

Adult↗
PubMed2001

Pubertal disorders in inv dup(15) syndrome.

Duplication of chromosome 15 (inv dup[15] chromosome) is the most common supernumerary marker chromosome in humans. Inv dup(15) chromosomes are commonly associated with mental retardation, epilepsy, behavioral problems and structural malformations. Ten patients (4 male, 6 female) were detected with inv dup(15) syndrome. At clinical follow-up three girls showed pubertal disorders: two with central precocious puberty and one with ovarian dysgenesis. As has already been found in other patients with chromosome 15p abnormalities, we believe that gynecological disorder is an important clinical finding also in patients with inv dup(15) syndrome. We report the first data of a systematic endocrinological study on inv dup(15) syndrome which suggest that endocrine investigation in these patients is both warranted and useful. Moreover, our observations confirm that a karyotype analysis in patients in whom precocious puberty is associated with mental retardation is mandatory.

Adolescent↗
PubMed2000

Char syndrome: an additional family with polythelia, a new finding.

This report describes a father and daughter with Char syndrome, a rare autosomal dominant disorder. Both affected individuals had typical face, strabismus, and foot anomalies. The girl also had a patent ductus arteriosus. In addition, both patients had polythelia (supernumerary nipples), a finding not described before in the Char syndrome.

Abnormalities, Multiple↗
PubMed2000

Vagal and hypoglossal Bell's palsy.

A 7-year-old boy was referred because of a sudden change to nasal speech, dysarthria for words with explosive consonants in speech, and nasal regurgitation of fluids. The symptoms arose over 1 week following a capricious episode of acute asthmatic bronchitis. Physical and neurologic examinations were normal except for a left deviation of the uvula, accompanied by a "curtain" movement of the posterior pharyngeal wall against the opposite side, and a left deviation of the protruded tongue. No vascular, traumatic, infectious, neoplastic, or neurologic causes could be identified. No therapy was administered. Full recovery occurred 4 months later. The diagnosis was idiopathic vagal and right hypoglossal nerve palsy (Bell's palsy).

Bell Palsy↗
PubMed2000

The syndrome of inv dup (15): clinical, electroencephalographic, and imaging findings.

The clinical and laboratory data of four pediatric patients and one adult patient with inverted duplication (inv dup) (15) are reported. The most evident findings were dysmorphic features with frontal bossing; genital abnormalities, such as macropenis or hypospadias; mental retardation; autistic behavior; and seizures. Two additional adults with inv dup (15) from other institutions were also diagnosed in our laboratory. Seizures and mental retardation were the reasons for their referral. The clinical picture of inv dup (15) seems to be quite variable since the phenotype can also be normal. However, karyotyping and fluorescent in-situ hybridization, focused in particular on chromosome 15, appear to be indicated in patients with dysmorphic phenotypes, such as the one present in our patients, and in subjects with early-onset seizures and psychomotor retardation with autistic features.

Adult↗
PubMed2000

Central precocious puberty and abnormal chromosomal patterns.

Central precocious puberty (PP) can be caused by chromosomal aberrations. We report three patients presenting with central PP in whom karyotype analysis demonstrated abnormal chromosomal patterns. The first patient was affected by the triple-X syndrome, commonly characterized by premature ovarian failure. The second patient, a girl with inv dup(15)(pter-->q12::q12-->pter), had a chromosomal aberration involving an imprinted region of the human genome, whose deletion is commonly associated with Prader-Willi syndrome (PWS) and hypogonadotrophic hypogonadism. The third patient was a boy carrying a rare chromosome abnormality, the duplication of chromosome 9 (q22-->qter). All patients had mental retardation, which was mild in patient 1, moderate in patient 2, and severe in case 3. They underwent treatment with luteinizing hormone releasing hormone (LHRH) analogs, which were able to stop the progression of the sexual development. We confirm that chromosomal aberrations are an important cause of central PP, and that karyotype analysis in patients with PP and mental retardation, even if mild, is necessary because chromosomal abnormalities can be present.

Journal Article↗
PubMed1999

Diagnosis of Angelman syndrome: clinical and EEG criteria.

In order to evaluate which diagnostic criteria can be indicative for an early diagnosis of Angelman syndrome (AS), 144 children with severe epilepsy and mental retardation were evaluated. In 10 of them the diagnostic criteria indicated by Williams were present. Of the remaining 134 patients we were able to diagnose one 15-year-old patient with AS, on the basis of the EEG findings, even though the typical clinical features of the syndrome were absent. In all patients the diagnosis of AS was confirmed by fluorescent in situ hybridization (FISH) in 10 patients and by methylation analysis in one patient. AS is very likely when both typical clinical and EEG findings are present. Nevertheless, it must be considered in all patients affected by severe epilepsy and mental retardation, when the EEG pattern is sufficiently indicative, and FISH and/or molecular analysis should be performed even in absence of typical clinical signs.

Adolescent↗
PubMed1999

Pronatriodilatin gene polymorphisms, microvascular permeability, and diabetic nephropathy in type 1 diabetes mellitus.

Approximately 30% of diabetic patients develop nephropathy, the appearance of which is partially under genetic control. Atrial natriuretic peptide (ANP) has associated physiologic effects on the kidney. This study was conducted to examine the relationship between a newly identified and known polymorphism at the pronatriodilatin (PND) gene locus and renal involvement in type 1 diabetic subjects. Of 454 type 1 diabetic patients (219 men, 235 women), 323 showed no sign of nephropathy, 79 had incipient renal involvement, and 52 established nephropathy; 58 healthy control subjects were examined for comparison. Allele frequencies (C708 versus T708) were: 0.95 and 0.05 in normoalbuminuric patients, respectively; 0.88 and 0.12 in microalbuminuric patients; 0.96 and 0.04 both in those with overt nephropathy and in healthy control subjects (P = 0.011). Patients with incipient nephropathy were in disequilibrium compared with the total diabetic cohort (P = 0.02). In the same populations, an additional genotype for ScaI polymorphism of the PND gene was tested. The A1 and A2 allele frequencies were: 0.21 and 0.79 in normoalbuminuric patients; 0. 13 and 0.87 in microalbuminuric patients; 0.06 and 0.94 in type 1 diabetic subjects with overt nephropathy; and 0.20 and 0.80 in healthy control subjects, respectively (P < 0.0001). A subset of 55 normotensive patients with type 1 diabetes, well matched for clinical features, plasma ANP levels, and microvascular permeability to macromolecules, was investigated on the basis of the C708/T and A2/A1 polymorphisms. Both transcapillary escape rate of albumin (TERalb) and plasma ANP levels were significantly lower in patients with the T708 than with C708 allele, as well as in the A1 than in A2 allele (TERalb: T708 versus C708: 5.5+/-1.7 versus 7.8+/-2.0%/h, P = 0.0001; plasma ANP levels: 8.3+/-3.9 versus 15.3+/-7.7 pg/ml, P = 0.0003; A1 versus A2: 6.05+/-2.2 versus 7.3+/-2.1%/h, P = 0.044; 8.53+/-4.6 versus 14.5+/-7.4 pg/ml, P = 0.0024, respectively). Thus, in a large ethnically homogeneous cohort of diabetic subjects, our data show: (1) a significant association of C708/T polymorphism with microalbuminuria in long-term diabetes and with both lower plasma ANP levels and widespread albumin leakage; and (2) a strong association between ScaI polymorphism and both diabetic nephropathy and plasma ANP concentrations. These results suggest a possible role of PND gene in conferring protection from nephropathy and microvascular damage in type 1 diabetes.

Adult↗
PubMed1998

Iohexol plasma clearance in determining glomerular filtration rate in diabetic patients.

The plasma clearance of iohexol has recently been proposed as a new method for estimating GFR. The iohexol plasma clearance was compared with that of 51Cr-EDTA in 32 diabetic patients (12 IDDM, 20 NIDDM; age 23-70; diabetes duration 1-35 years) with normal to impaired renal function (serum creatinine: 0.8-6.4 mg/dL). Bolus i.v. injection of 51Cr-EDTA (1 muCi/kg) was followed by 5 mL slow i.v. injection of Omnipaque (Nycomed, Oslo, Norway). Samples for radioactivity and iohexol analysis were drawn at 0, 5, 10, 15, 30, 60, 90, 120, 150, 180, 210, 240, 270, 300 min (+360 and 420 min if serum creatinine > 2.0; +1440 min if > 5.0 mg/dL). Iohexol was assayed in duplicate by HPLC throughout a Nova-Pak C18 column (Waters-Millipore, USA). Only the second peak obtained during elution of iohexol (about 4.5 min) was used for calculation. Dilution tests show highly linear regressions for concentrations between 3.25-650 micrograms/mL (r = 0.99). Imprecision of iohexol assay (the whole procedure from deproteinization to chromatography) was: intra-assay 1.4 +/- 1.5%, mlsd (95% CI: 1.0-1.8%); inter-assay 3.0 +/- 2.7% (1.4-4.6%). Iohexol plasma clearance ranged between 12.9 and 150.9 mL/min, while 51Cr-EDTA plasma clearance between 11.9 and 149.8 mL/min with excellent correlation (iohexol = 0.95 51Cr-EDTA + 2.49; r = O.995). Mean CV between the two methods was 1.7% (range 0-4.9%) with a significant negative correlation (r = 0.5 I, p = 0.007) with the GFR levels. Correlation between repeated measurements, performed in eight patients, was excellent (r = O.994, P = 0.0001). In diabetes, GFR measured by plasma clearance of iohexol shows an excellent agreement with plasma clearance of 51Cr-EDTA throughout a wide range of renal function. Iohexol provides an accurate alternative method for measuring GFR.

Adult↗