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Biomedical subjects

P Pavone

Publications and source records attributed to P Pavone.

At least 19 recordsLinked to original sources
PubMed2006

Blink reflex abnormalities in children with Tourette syndrome.

Tourette syndrome (TS) is a common disorder which typically occurs during childhood or early adolescence. There is no definitive diagnostic test for TS. The objective of this study was to demonstrate whether neurophysiological abnormalities of the blink reflex can be observed in children with TS. We enrolled 15 children with TS, diagnosed according to DSM IV Diagnostic Criteria, and 15 controls. The blink reflex was elicited by stimulating the supraorbital nerve in order to measure the early response (R1), homolateral and contralateral R2 (late) responses, amplitude of R1 and duration of R2. The mean duration of R2 was significantly longer in TS patients than in the controls (P < 0.001, Student's t-test). An abnormal pattern of the blink reflex can be, even in childhood, an early neurophysiologic marker of TS, which is not related to the duration of TS or to the age of onset.

Adolescent↗
PubMed2006

Kawasaki's disease with paralytic ileus. A case report.

The authors report on an 18 month-old boy affected by Kawasaki's disease (KD). The diagnosis of KD was made after exclusion of conditions with similar presentation. Two days after admission the child presented vomiting, abdominal distension, meteorism and increase of scrotal swelling with edema. An abdominal X-ray showed the presence of multiple water and gas levels in the ileum and subsequent diagnosis of paralitic ileus was made. After several evacuative enema the intestinal symptomatology resolved. The patient was treated twice (2 g/kg day and after 3 days again 2 g/kg day) with intravenous immunoglobulin following which he made an uneventful recovery. The authors conclude that the presence of paralytic ileus in a febrile child may represent an unusual clinical sign of KD and justify a timely commencement of intravenous immuno-globulin therapy.

Diagnosis, Differential↗
PubMed2005

Congenital insensitivity to pain with Anhidrosis (NTRK1 mutation) and early onset renal disease: clinical report on three sibs with a 25-year follow-up in one of them.

Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor kinase 1 (NTRK1) gene which encodes the receptor for nerve growth factor (NGF). We report the clinical course in three sibs with CIPA and proven NTRK1 gene mutations with a follow-up over a 25-year period in one of them. They had the characteristic clinical features of an abnormally high pain threshold, and mental retardation; in addition their clinical course was marked by the occurrence of early onset renal disease with recurrent microhematuria and proteinuria and frequent observations of increased serum creatinine and blood urea levels. Light microscopy study of a renal biopsy performed in one of them at age of 20 months showed focal glomerulosclerosis, interstitial fibrosis and tubular atrophy. This patient and his younger brother died because of renal failure at the age of 25 years and 14 years, respectively. The sister still alive showed renal impairment and deep venous thrombosis associated with lupus anticoagulant activity, decrease of circulating autoreactive CD5 (+) B lymphocytes and increased urinary levels of IgG and kappa and lambda light chains, suggesting a possible defect in regulation of B-lymphocyte function. In the light of the NGF-related molecular defect, the extraneurological tissue involvement in CIPA might in part reflect dysregulation of immune mechanisms which possibly brings about a chronic inflammatory response. This, in turn, could result in renal disease which should be mentioned among the life-threatening complications associated with this disorder.

Adolescent↗
PubMed2005

A complex brain malformation syndrome with rhombencephalosynapsis, preaxial hexadactyly plus facial and skull anomalies.

We report on a 15-year-old boy with epilepsy and mental retardation who had been repeatedly shunted since birth for hydrocephalus. This child showed at imaging an unusual, severe and complex brain malformation consisting of distorted gyral patterns with deeply infolded mantle in the parietal-lateral and posterior-temporal lobes, normal versus dysplastic cortex, unseparated thalami, thin white matter, collapsed ventricles, partial frontal corpus callosum agenesis, closely apposed superior and middle cerebral peduncles with narrow fourth ventricle, continuity of posterior cerebellum hemispheric foliar patterns across the midline, closely apposed cerebellar peduncles, asymmetrical hypogenesis of the vermis and herniation of the cerebellar hemispheric pattern up through the tentorial incisure. In addition, this boy had congenital skeletal and skin anomalies including pre-axial hexadactyly with thumb duplication, wide bone occipital lacunae (catlin mark) with partial occipital suture synostosis, cutis vertex rigirata and a tuft of hair in the outer region of the right eyebrow. Several of these cerebral and cerebellar abnormalities were suggestive of rhombencephalosynapsis. Nonetheless, many of these brain abnormalities are also recorded in Chiari type 2 malformation after operative shunting. To the best of our knowledge, however, this complex constellation of nervous system, skeletal and skin abnormalities has not been previously reported.

Adolescent↗
PubMed2005

Subclinical cardiological involvement in Sicilian patients with pure congenital muscular dystrophy.

AIM: Congenital muscular dystrophies (CMD) are a heterogeneous group of diseases characterized by a marked weakness, generalized hypotonia, joint contractures and a muscle biopsy suggestive of dystrophic changes. The aim of this study has been to assess the prevalence of heart involvement in merosin-positive CMD patients examined by echocardiography and Doppler. METHODS: A total of 10 merosin-positive CMD patients and 100 healthy children were evaluated by echocardiography and Doppler examinations and the results were compared. RESULTS: Three out of 10 patients showed a reduction of the ejection fraction and of the shortening fraction; in 1 case, a dilatation of left ventricular diastolic diameter was observed. CONCLUSIONS: In the 10 patients examined by echocardiography and Doppler, a heart involvement has been observed in 25% of cases.

Child↗
PubMed2005

[Leishmaniasis in a splenectomized thalassodrepanocytic young adult].

We report a 23-year-old thalassodrepanocytic man who contracted leishmaniasis. The diagnostic difficulties related to some overlapping features between the two conditions are discussed. To the best of our knowledge, this is the first reported occurrence of leishmaniasis in a thalassodrepanocytic patient.

Adult↗
PubMed2004

Epilepsy is not a prominent feature of primary autism.

The authors report on a series of 72 patients (57 male, 15 female; aged from 4 to 21 years) affected by autism with the aim of evaluate their experience regarding the prevalence of seizure and/or epilepsy. Patients were divided into two groups: the first includes individuals (n = 54) affected by so-called idiopathic or primary autism which was further subdivided according to the grade of mental retardation (MR) and the second (n = 18) in which a known pathological event was associated to the autism (secondary autism). According to these results in the first group 12 % of autistic patients with moderate MR (i.e., IQ > 55) suffered from seizures but in three patients (9 %) they were occasional and only in one recurrent (i.e., epileptic) (3 %). Autistic patients with severe MR (i.e., IQ < 55) suffered from seizures in 20 % of the cases: in three the episodes were recurrent (15 %) and in one occasional (5 %). In the second group in which autism was associated to other morbidities 61 % (n = 11/18) had seizures, being recurrent in 10 (55 %). According to this series, in autism the risk of epilepsy is higher compared to the general population but it does not seem to be correlated to the autism itself, but rather to the associated co-morbidities and underlying brain dysfunction (overall prevalence of epilepsy in primary autism [4/54 or 7.4 %] vs. secondary autism [10/18 or 55 %]).

Adolescent↗
PubMed2004

Fetal cells in maternal blood: a six-fold increase in women who have undergone amniocentesis and carry a fetus with Down syndrome: a multicenter study.

Fetal nucleated red blood cells (FNRBCs) circulate in the maternal blood throughout pregnancy. Even if the frequency of fetal cells in the maternal circulation remains to be ascertained, complications of pregnancy such as fetal cells aneuploidies, preeclampsia, abnormal Doppler of the uterine artery without symptoms of preeclampsia, fetal growth restriction and polyhydramnios are associated with an increased feto-maternal trafficking. Based on these observations, previous studies have suggested that determination of the fetal nucleated red blood cell count (FNRBCC) might be a useful non-invasive screening test, either alone or in combination with existing maternal tests, for the non-invasive assessment of aneuploidies, in particular Down syndrome (DS). In this paper we have evaluated the distribution of FNRBCC in a set of 18 normal pregnancies and 18 pregnancies with a trisomy 21-affected fetus, matching for gestational age, maternal age, and, when possible, fetal gender, in order to quantify the difference in the number of fetal cells between the two populations. Maternal blood was collected from each pregnant woman two to three weeks after amniocentesis after knowing the cytogenetic results. Correlation of FNRBCC with the gestational week and clinical status (affected vs. non affected) by multiple regression analysis provided significant results (p < 0.001). Adjusted values of FNRBCC were 48 +/- 10.2 in controls and 301 +/- 17.01 in DS cases, corresponding to a 6.27 fold increase. These retrospective results prompt a prospective evaluation of the use of FNRBCC for screening purposes.

Adult↗
PubMed2004

Ophthalmological manifestations in segmental neurofibromatosis type 1.

AIMS: To study the ophthalmological manifestations in individuals with the typical features of neurofibromatosis type 1 (NF1) circumscribed to one or more body segments, usually referred to as segmental NF1. METHODS: Visual acuity and colour tests, visual field examination, slit lamp biomicroscopy of the anterior segment, and a detailed examination of the retina by indirect ophthalmoscopy were performed at diagnosis and follow up in 72 consecutive subjects (29 males, 43 females; aged 1-64 years; mean age 14.6 years) seen at the university departments of paediatrics in Catania and Rome, Italy, during years 1990-2003, who had in restricted body areas: (1) typical pigmentary manifestations of NF1 (cafe au lait spots and freckling) only (n = 48); (2) NF1 pigmentary manifestations and neurofibromas alone (n = 2); (3) neurofibromas only (n = 15); and (4) plexiform neurofibromas only (n = 7). RESULTS: None of the 72 patients had Lisch nodules in the iris irrespective of age at eye examination or hypertelorism (a "minor" NF1 feature) and none developed typical associated ophthalmological NF1 complications. An additional child had an isolated optic pathways glioma (OPG), which behaved both biologically and radiographically as an NF1 associated OPG. CONCLUSIONS: This represents the first systematic study reporting on eye involvement in the largest series of individuals at different ages having segmental NF1. As one of the postulated mechanisms to explain segmental NF1 is somatic mosaicism for the NF1 gene (so far demonstrated only in two patients) the present findings could be explained either by the fact that the eye is too far from the mutated area with NF1 lesions in most cases or by the NF1 (or other "predisposing" or "cooperating") gene mutation restricted to too few cellular clones or to tissues embryologically different from the eye.

Adolescent↗
PubMed2003

Non-invasive angiography of the coronary arteries with multislice computed tomography: state of the art and future prospects.

Until now conventional angiography has represented the only technique for assessing the coronary arteries. During the last decade, attempts have been made to validate a non-invasive technique for the study of coronary arteries. In particular, Electron-beam Tomography and Magnetic Resonance Imaging have been used for this purpose, even though they have not become clinical tools. More recently, spiral computed tomography (CT) technology, improved by the use of multiple slices and 500ms gantry rotation times, has shown a good potential without entering routine clinical practice. The introduction of multislice technology with 16 rows and rotation times below 500ms has yielded such good results in detecting significant (>50%) coronary artery stenosis that it has been proposed as a clinical tool. This paper describes the examination technique and the results achieved in CT angiography of the coronary arteries.

Coronary Angiography↗
PubMed2003

[Early-onset of primary intestinal lymphangiectasia. A case report and diet treatment].

Primary intestinal lymphangiectasia is a rare disorder, characterized by hypoproteinemia due to obstruction of the intestinal lymphatic vessels and loss of lymph fluid in the gastrointestinal tract. The case of a 3-month old patient with protein-losing enteropathy due to a primitive intestinal lymphangiectasia diagnosed with duodenal histology is reported. The adapted formula was replaced by a formula enriched with medium-chain triglycerides (MCT) and the patient presented a clinical and biochemical improvement. The importance of an early diagnosis and the efficacy of treatment with MCT is stressed.

Female↗
PubMed2002

Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.

At least six different forms of congenital muscular dystrophy are associated with structural changes of the central nervous system, and three of these have been mapped: merosin-deficient congenital muscular dystrophy on chromosome 6q2, Fukuyama congenital muscular dystrophy on chromosome 9q31, and muscle eye brain disease on chromosome 1p32. Walker-Warburg syndrome, congenital muscular dystrophy with calf hypertrophy, pontocerebellar hypoplasia, and normal eyes, and congenital muscular dystrophy with severe mental retardation and cerebellar cysts are nosologically distinct and have been excluded from the known congenital muscular dystrophy loci with structural changes of the central nervous system. Here, we describe a novel congenital muscular dystrophy syndrome which is phenotypically distinct from the recognized forms of congenital muscular dystrophy with brain involvement. Two siblings, a boy and a girl, were born to consanguineous parents from Sicily. Both children were born with adducted thumbs and toe contractures. They were floppy from birth, walked late, showed profound generalized muscle weakness including facial muscles, elevated creatine kinase levels of 200-700U/l, and histological changes compatible with muscular dystrophy. In addition, both showed ptosis, external ophthalmoplegia, mild mental retardation, and mild cerebellar hypoplasia on MRI. Immunocytochemistry showed normal expression of muscle membrane proteins including laminin alpha 2, laminin beta 2, and alpha-dystroglycan. Linkage analysis excluded the candidate loci on chromosomes 6q2, 9q31, and 1q32. The gene locus for congenital muscular dystrophy 1B, MDC 1B, on chromosome 1q42 was also excluded. Adducted thumbs are a distinct clinical sign that has not been reported in congenital muscular dystrophy before and should facilitate recognition of further patients with this disorder.

Blepharoptosis↗
PubMed2002

Guillain-Barré syndrome after varicella zoster virus infections. A case report.

The case of a 13 year-old patient affected by Guillain-Barré syndrome developed after varicella zoster virus infection is reported. Cerebrospinal fluid examination and motor and sensory conduction velocity were consistent with GBS. Antibodies against gangliosides GM1 were present; it is likely that some of these may play an important role in the pathogenesis of syndrome after varicella infection. The therapy was carried out with increasing high-doses of immunoglobulins, with full clinical recovery.

Adolescent↗
PubMed2001

Structural changes induced by antineoplastic therapies: keys to evaluate tumor response to treatment.

The criteria to define therapeutic response in oncology are those proposed by Miller, characterized by four response categories (complete response, partial response, no change, progression of disease), and based upon both measurable and non-measurable (and otherwise assessable) morphological parameters in comparison with baseline and subsequently modified following the Response Evaluation Criteria In Solid Tumors. In addition to these classical morphological criteria, we review the predictive value of structural changes in the evaluation of response to antineoplastic therapies. The goal of the present review is to evaluate in detail structural variations (calcification, fibrosis, differentiation, necrosis, cavitation, vascularization, edema, and pseudocapsule formation) induced by therapy, and to ascertain their significance in terms of biological evolution of the neoplastic process.

Calcinosis↗
PubMed2001

A genomewide screen for autism susceptibility loci.

We report the analysis of 335 microsatellite markers genotyped in 110 multiplex families with autism. All families include at least two "affected" siblings, at least one of whom has autism; the remaining affected sibs carry diagnoses of either Asperger syndrome or pervasive developmental disorder. Affected sib-pair analysis yielded multipoint maximum LOD scores (MLS) that reach the accepted threshold for suggestive linkage on chromosomes 5, X, and 19. Nominal evidence for linkage (point-wise P<.05) was obtained on chromosomes 2, 3, 4, 8, 10, 11, 12, 15, 16, 18, and 20, and secondary loci were found on chromosomes 5 and 19. Analysis of families sharing alleles at the putative X chromosomal linked locus and one or more other putative linked loci produced an MLS of 3.56 for the DXS470-D19S174 marker combination. In an effort to increase power to detect linkage, scan statistics were used to evaluate the significance of peak LOD scores based on statistical evidence at adjacent marker loci. This analysis yielded impressive evidence for linkage to autism and autism-spectrum disorders with significant genomewide P values <.05 for markers on chromosomes 5 and 8 and with suggestive linkage evidence for a marker on chromosome 19.

Asperger Syndrome↗
PubMed2001

Noninvasive prenatal diagnosis of chromosomal aneuploidies by isolation and analysis of fetal cells from maternal blood.

The isolation and analysis of nucleated fetal cells (NFCs) from maternal blood may represent a new approach to noninvasive prenatal diagnosis. Although promising, these techniques require highly accurate separation of NFCs from nucleated cells of maternal origin; the two major problems limiting these techniques are the relative rarity of fetal cells in maternal blood and the need to establish their fetal origin. We now report a novel procedure that has allowed accurate separation of NFCs from maternal cells. The technique reported involves direct micromanipulator isolation of histochemically identified hemoglobin F-positive nucleated cells to obtain fetal nucleated red blood cells (FNRBCs) of high yield and purity. Using this technique, followed by cell-by-cell multicolor fluorescence in situ hybridization (FISH) analysis of purified FNRBCs, we were able to detect some of the most common human aneuploidies (including Down syndrome, Klinefelter syndrome, and trisomy 13) in 33 pregnant women referred for amniocentesis. The procedure used, which can be completed in <72 hrs, produced complete concordance with the results of amniocentesis. We also confirm findings of prior studies suggesting that the number of FNRBCs in maternal circulation is remarkably higher in abnormal pregnancies than in normal pregnancies, especially in women carrying a fetus with trisomy 21.

Aneuploidy↗
PubMed2001

Neuropsychological assessment in children with absence epilepsy.

OBJECTIVE: To define cognitive deficits in children with absence epilepsy. BACKGROUND: Cognitive deficits have often been reported in children with epilepsy, but have rarely been characterized in patients with a specific epileptic syndrome. METHODS: Detailed neuropsychological testing was carried out on 16 right-handed children with absence epilepsy with similar clinical and EEG findings, and the findings were compared to 16 well-matched right-handed children without absence epilepsy. RESULTS: The authors found lower scores of measures of general cognitive functioning and visuospatial skills in patients with absence epilepsy, as compared to controls. Memory disturbances were also detected in absence epilepsy patients, with selective involvement of nonverbal memory and delayed recall. In contrast, verbal memory and language skills were relatively preserved. Patients whose seizures began at an earlier age seemed to have more severe cognitive deficits. CONCLUSION: Language skills tend to be relatively well preserved in children with generalized epilepsy, with more dysfunction seen in global terms rather than specific lateralizing deficits. Patients with absence epilepsy seem to show a similar neurocognitive profile that may be a reflection of the underlying epilepsy syndrome.

Adolescent↗