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Biomedical subjects

L Pavone

Publications and source records attributed to L Pavone.

At least 55 records · Page 3Linked to original sources
PubMed1996

Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens).

We report our clinical and neuroradiologic findings in 13 patients affected by hypomelanosis of Ito. Seven patients were boys and six were girls; their ages ranged from 11 months to 16 years. Neurologic signs were present in all but two cases, and they consisted of language disabilities, seizures, hypotonia, mental retardation, and autistic behavior. MRI was performed in all patients. We observed anomalies of the white matter in seven of the 13 patients; all but one of these seven had neurologic signs that included seizures, hypotonia, language disabilities, and mental retardation. The abnormal signals in the white matter were mostly located in the parietal periventricular and subcortical regions of both hemispheres. Moreover, we found asymmetry of the cerebral hemispheres in one of our 13 patients and atrophy of the cerebellar vermis in another patient, with no involvement of the white matter in either. In the remaining four of the 13 patients results of MRI appeared normal. There was a relationship between the anomalies in the central nervous system at MRI, as a whole, and the neurologic manifestations, even though two patients with apparently normal images on MRI had partial and generalized tonic clonic seizures, respectively. A correlation was also found between white matter anomalies and neurologic signs; extended and deep changes in white matter images were associated with more severe neurologic abnormalities and delayed language milestones appeared to be a constant finding in this group of patients. These anomalies of the white matter, which did not progress over time, resembled those seen in other neurocutaneous syndromes. The hypothesis is presented that underlying disarray of cortical lamination or neuronal loss with subsequent wallerian degeneration and altered or delayed myelination could be the cause of the abnormal findings on MRI.

Adolescent↗
PubMed1996

Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation.

A 17-year-old boy with a complex array of dysmorphic features including generalized hypertrichosis of the terminal hair, coarse face, short stature, obesity, brachydactyly with broad proximal phalanges, small and dyschromic nails, and mental retardation is reported. Virilizing endocrinopathies, obesity/mental retardation syndromes, and conditions with hirsutism associated with small or absent nails are discussed and particular emphasis is given to the syndrome of "generalized hypertrichosis terminalis and gingival hyperplasia" which shares some features with the patient.

Abnormalities, Multiple↗
PubMed1996

Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I.

CDG syndrome (CDGS) type I is the most frequent form of a group of metabolic disorders characterised by a defect of the carbohydrate moiety of glycoproteins. A large number of plasma glycoproteins, including clotting factors and inhibitors, are decreased and stroke-like episodes have been described in about half of the reported patients. We studied blood coagulation factors, inhibitors and D-dimer plasma levels in four subjects, aged 12-23 years, with CDGS type I. Factors VIII, XI, antithrombin III activity, antigen plasma levels of antithrombin III, free protein S and protein C were decreased whereas protein C as activity was normal. In addition two patients had reduction of factors II, V, VII, IX, X reflecting the phenotypic heterogeneity associated with CDGS type I. D-dimer plasma concentrations were elevated in all subjects. The hypercoagulable state as consequence of the combined deficiencies of coagulation inhibitors could contribute to the stroke-like phenomena in CDGS type I.

Adolescent↗
PubMed1995

Autosomal-recessive microcephaly in two siblings, one with normal IQ and both with protruding mandible, small ears, and curved nose.

We report on 2 sibs with severe microcephaly and unusual associated manifestations. The brother has borderline/normal intelligence, episodic seizures, clumsiness, and the more severe of facial manifestations; the sister has normal IQ and neither seizures nor behavior abnormalities. Small ears, markedly protruding midface, curved nose, and severe retrognathia are present in both sibs. We postulate that our patients have a "new" form of AR microcephaly, since normal intelligence is not found, nor are the associate findings as pronounced, as in other, more common forms of AR microcephaly (i.e., "microcephalia vera").

Abnormalities, Multiple↗
PubMed1995

Neuropaediatrics.

Explore the source record for details and available documents.

Brain Diseases↗
PubMed1995

Congenital muscular dystrophies: clinical review and proposed classification.

The clinical spectrum of the congenital muscular dystrophies is reviewed using as a sample population 10 Sicilian patients with various clinical subtypes. A comprehensive classification scheme for the muscular dystrophies is presented based on recent advances in our understanding of this heterogeneous group of syndromes.

Biopsy↗
PubMed1994

Localization of the human genes encoding the two subunits of general transcription factor TFIIE.

TFIIE is a general transcription factor for class II genes composed of two types of subunits, a large one of 56 kDa and a small of 34 kDa. By Southern analysis at high and at low stringency of a panel of mouse/human hybrid cell lines and by in situ chromosomal hybridization, we have demonstrated that both polypeptides are encoded by genes that are single copy in the human genome and are localized at 3q13-q21 and at 8p12, respectively. A TaqI RFLP (heterozygosity index of 0.07) was detected at the locus for the 56-kDa subunit.

Animals↗
PubMed1994

Physical mapping at 6q27 of the locus for the TATA box-binding protein, the DNA-binding subunit of TFIID and a component of SL1 and TFIIIB, strongly suggests that it is single copy in the human genome.

The TATA box-binding protein (TBP) has a fundamental role in eukaryotic cell metabolism, since it is necessary for transcription of class I, class II, and class III genes; in fact, TBP is the DNA-binding subunit of TFIID and a component of SL1 and TFIIIB. Contrary to the previously hypothesized existence of a family of genes coding for DNA-binding proteins highly related to TBP, our experiments show that the segment coding for the evolutionarily well-conserved carboxyl-terminal domain, involved in DNA binding, is unique; accordingly, we conclude that the TBP locus itself, which we have localized to 6q27, is single copy in the human genome. On the other hand, a cDNA fragment coding for the evolutionarily variable amino-terminal domain detects multiple cross-hybridizing sequences in the genome of higher eukaryotes. We suggest that the common motif is represented by the long string of glutamine codons, which characterizes the amino-terminal segment of human TBP: in fact, other proteins involved in transcription, such as TAF II 110, Sp1, and some homeobox proteins, are known to contain glutamine-rich segments.

Animals↗
PubMed1994

Infantile spasms in patients with neurofibromatosis type 1.

The authors report two patients with neurofibromatosis type 1 who were affected by infantile spasms. The infantile spasms were severe and unresponsive to anticonvulsant treatment. The authors maintain that infantile spasms may belong to the clinical features of neurofibromatosis type 1.

Cerebral Ventricles↗
PubMed1993

Febrile and afebrile convulsions: a clinical follow-up.

A joint study was performed on 204 children who suffered separate febrile (FS) and afebrile seizures (aFS) within a short space of time to evaluate the risk of subsequent convulsive crises. The data obtained revealed frequent recurrence of seizures and high risk of subsequent convulsive afebrile crises in these children.

Atrophy↗
PubMed1993

Clinical manifestations and evaluation of isolated lissencephaly.

Lissencephaly ("smooth brain") is a brain malformation characterized by a smooth cerebral surface, incomplete neuronal migration, and secondary abnormalities such as mental retardation, seizures, and minor facial dysmorphisms. Recent reports have produced evidence supporting several different causes including submicroscopic deletions in chromosome band 17p13.3, autosomal recessive inheritance, intrauterine infection, and intrauterine perfusion failure. We describe the clinical manifestations in seven patients with lissencephaly, and review pertinent studies regarding possible causes. The clinical manifestations were uniformly severe. All patients had severe mental retardation, hypotonia, often combined with spastic paralysis, and infantile spasms which did not respond to treatment. Most had poor growth, postnatal microcephaly, feeding problems, and frequent respiratory infections including pneumonia. None had other significant birth defects. Appropriate studies include computed tomography or magnetic resonance imaging (sometimes both), chromosome analysis, DNA analysis of the lissencephaly region on chromosome 17, electroencephalography and sometimes metabolic studies.

Cerebral Cortex↗
PubMed1993

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.

Wilson disease (WD) is an autosomal recessive disorder characterized by the toxic accumulation of copper in a number of organs, particularly the liver and brain. As shown in the accompanying paper, linkage disequilibrium & haplotype analysis confirmed the disease locus to a single marker interval at 13q14.3. Here we describe a partial cDNA clone (pWD) which maps to this region and shows a particular 76% amino acid homology to the Menkes disease gene, Mc1. The predicted functional properties of the pWD gene together with its strong homology to Mc1, genetic mapping data and identification of four independent disease-specific mutations, provide convincing evidence that pWD is the Wilson disease gene.

Adenosine Triphosphatases↗
PubMed1993

Syndactyly type 1 with cataracts and mental retardation.

We report a child affected by a malformation syndrome characterized by unusual facies, congenital cataracts, mental retardation, bilateral soft tissue syndactyly of the 3rd and 4th fingers and bilateral partial syndactyly of the 2nd and 3rd toes. The overall clinical picture in this patient is not similar to other cases previously reported.

Abnormalities, Multiple↗