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Biomedical subjects

M Di Rocco

Publications and source records attributed to M Di Rocco.

At least 37 records · Page 2Linked to original sources
PubMed2002

Identification of the novel allele B*4427 and a confirmatory sequence (B*44022).

This report presents a novel allele, HLA-B*4427, which was identified in a bone marrow donor of Caucasian origin, and a confirmatory sequence (B*44022). Sequence analysis revealed the new allele differs from B*44021 by a single nucleotide exchange at position 668 (C-->T), which is located in exon 4. At the protein level, it is the only B*44 variant to produce an Ala in place of a Val at codon 199. Its structure suggests that it may have originated from a point mutation in B*44021 or by gene conversion with a variety of HLA-B alleles. Cloning and sequencing of the allele B*44022 revealed a sequence identical to B*44021 and B*44 exon 4, with the codon GTC (Val) in position 199.

Alleles↗
PubMed2002

Aspermia and chronic testicular pain after imperforate anus correction. Cryopreservation of sperm cells extracted from whole orchiectomized testis: case report.

This paper describes an unusual association of aspermia and untreatable, chronic testicular pain in a young man who underwent 14 surgical interventions for an imperforate anus. Physical examination and ultrasonography revealed left epididymal and vas enlargement, normal-sized testes, tubular ectasia of the left rete testis and a small intraprostatic paramedian left cyst. Retrograde ejaculation and urogenital infections were excluded, and the FSH and karyotype results were normal. The patient gave his consent to an exploratory intervention with possible radical left orchiectomy. The patency of the left distal seminal duct was unexpectedly normal, and no sperm were found in the epididymis or vas deferens despite their obstructive appearance. Sperm were only found in a 'testicular touch' preparation. The removed testis was immediately opened and most of the testicular lobules were removed, thus allowing the extraction of 25 x 10(6) sperm, which were cryopreserved in 35 straws. An 8-month follow-up examination documented the complete absence of pain and, during the next few months, it is planned to use the thawed sperm for ICSI. Radical orchiectomy plus the cryopreservation of sperm extracted from the whole testis must be considered in the case of the co-existence of chronic unilateral testicular pain and aspermia.

Adult↗
PubMed2001

Malignant migrating partial seizures in infancy.

A previously unreported epileptic condition characterised by onset before 6 months of age, nearly continuous electroencephalographic seizures involving multiple independent areas originating in both hemispheres, no identifiable cause, and poor outcome has been described by Coppola et al. We report three cases presenting the same clinical and EEG pictures. They show a peculiar epileptic condition unlike the other early epileptogenic encephalopathies, so they may represent a new infantile epileptic syndrome.

Brain↗
PubMed2001

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

Mevalonic aciduria (MA) and hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) are two autosomal recessive inherited disorders both caused by a deficient activity of the enzyme mevalonate kinase (MK) resulting from mutations in the encoding MVK gene. Thus far, disease-causing mutations only could be detected by analysis of MVK cDNA. We now describe the genomic organization of the human MVK gene. It is 22 kb long and contains 11 exons of 46 to 837 bp and 10 introns of 379 bp to 4.2 kb. Three intron-exon boundaries were confirmed from natural splice variants, indicating the occurrence of exon skipping. Sequence analysis of 27 HIDS and MA patients confirmed all previously reported genotypes based on cDNA analysis and identified six novel nucleotide substitutions resulting in missense or nonsense mutations, providing new insights in the genotype/phenotype relation between HIDS and MA.

Alternative Splicing↗
PubMed2001

Hepatitis A vaccine in pediatric patients affected by metabolic liver diseases.

Twenty children with a variety of metabolic liver diseases were given two doses of hepatitis A vaccine. Adverse reactions were mild. All subjects responded to vaccine with seroconversion to hepatitis A virus antibodies after the first dose, regardless of transaminase values, and had a booster effect from the second doses.

Adolescent↗
PubMed2000

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.

We report on a clinical-genetic study of 16 Wolf-Hirschhorn syndrome (WHS) patients. Hemizygosity of 4p16.3 was detected by conventional prometaphase chromosome analysis (11 patients) or by molecular probes on apparently normal chromosomes (4 patients). One patient had normal chromosomes without a detectable molecular deletion within the WHS "critical region." In each deleted patient, the deletion was demonstrated to be terminal by fluorescence in situ hybridization (FISH). The proximal breakpoint of the rearrangement was established by prometaphase chromosome analysis in cases with a visible deletion. It was within the 4p16.1 band in six patients, apparently coincident with the distal half of this band in five patients. The extent of each of the four submicroscopic deletions was established by FISH analyses with a set of overlapping cosmid clones spanning the 4p16.3 region. We found ample variations in both the size of the deletions and the position of the respective breakpoints. The precise definition of the cytogenetic defect permitted an analysis of the genotype-phenotype correlations in WHS, leading to the proposal of a set of minimal diagnostic criteria, which in turn may facilitate the selection of critical patients in the search for the gene(s) responsible for this disorder. We observed that genotype-phenotype correlations in WHS mostly depend on the size of the deletion, a deletion of <3.5 Mb resulting in a mild phenotype, in which malformations are absent. The absence of a detectable molecular deletion is still consistent with a WHS diagnosis. Based on these observations a "minimal" WHS phenotype was inferred, the clinical manifestations of which are restricted to the typical facial appearance, mild mental and growth retardation, and congenital hypotonia.

Abnormalities, Multiple↗
PubMed2000

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

GM1-gangliosidosis is a lysosomal storage disorder caused by deficiency of acid beta-galactosidase (GLB1). We report five new beta-galactosidase gene mutations in nine Italian patients and one fetus, segregating in seven unrelated families. Six of the eight patients with the infantile, severe form of the disease presented cardiac involvement, a feature rarely associated with GM1-gangliosidosis. Molecular analysis of the patients' RNA and DNA identified two new RNA splicing defects, three new and three previously described amino acid substitutions. Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59H, Y591C, Y591N, or IVS14-2A>G. In contrast, all other patients were compound heterozygous for one of the following mutations: R201H, R482H, G579D, IVS8+2T>C. Although we could not directly correlate the presence of cardiac abnormalities with specific genetic lesions, the mutations identified in patients with cardiomyopathy fell in the GLB1 cDNA region common to the lysosomal enzyme and the Hbeta-Gal-related protein, also known as the elastin binding protein (EBP). Consequently, both molecules are affected by the mutations, and they may contribute differently to the occurrence of specific clinical manifestations.

Amino Acid Sequence↗
PubMed2000

HLA class I residue mismatch and renal graft outcome.

Donor-recipient HLA matching was retrospectively evaluated in 111 cadaveric renal transplants using Takemoto's ten-residue model in which HLA class I antigens are clustered by crossreactive group (CREGs) on the basis of amino acid sequence homology and the sharing of a particular public epitope. The grade and type of HLA residue mismatching were correlated to posttransplant, class I donor-specific antibody production (monitored by flow cytometry crossmatch), rejection occurrence and clinical outcome during the 1st year posttransplant. In 52 patients with 0 mismatchings (MMs) we observed a low incidence of rejection (11.1%) and antibody production (11.1%) for 0 CREG MM grade, while 1 MM was enough to increase immune response against graft (rejection 35%; antibodies 30%). Moreover, a significant correlation was observed between Q144, E163, Q62 and L82/R82 epitopes and the incidence of acute rejection and antibody production ("immunogenic" residues) in patients grouped for a single residue mismatch.

Antibody Formation↗
PubMed2000

Osteopetrorickets: case report.

UNLABELLED: We report the case of a baby girl who presented with rickets at 3 months. At the age of 5 months she was readmitted because of nystagmus and a diagnosis of osteopetrosis was made on the basis of clinical and radiological findings. Rickets is a paradoxical feature of osteopetrosis resulting from inability to maintain a normal calcium-phosphorus balance. In our patient the onset of rickets before other symptoms of osteopetrosis suggests a primary defect. CONCLUSION: It is possible that patients with osteopetrosis and rickets (osteopetrorickets) represent a different mutation like the osteopetrosis mouse, which is the only animal mutation with rickets.

Alkaline Phosphatase↗
PubMed2000

Sequence analysis of a new HLA-DR11 allele in a Caucasian Italian family: DRB1*11272.

This communication describes a new DRB1*11 allele identified in a familial group of Caucasian individuals from central Italy. The new sequence has been officially named DRB1*11272 by the World Health Organization (WHO) Nomenclature Committee (February 2000). It encodes an HLA antigen serologically recognized as DR11. The sequence variation of this new allele was localized to codon 77 of exon 2. It differs at position 230 from DRB1*11011 allele (A replacing C), and at position 231 from DRB1*1127 (C replacing T). At the amino acid level, the DRB1*11272 mutation is silent with respect to the DRB*1127 phenotype, coding for a synonymous asparagine.

Alleles↗
PubMed2000

Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.

We describe a child with severe psychomotor retardation, peripheral neuropathy and bilateral abnormal signal in basal ganglia on magnetic resonance imaging, consistent with Leigh disease. Fibroblast pyruvate dehydrogenase assayed with routine method was normal. However, because of neurological improvement after treatment with thiamine, pyruvate dehydrogenase activity was studied again with thiamine pyrophosphate concentration adjusted to the normal human tissue level and found to be deficient. We report here on diagnostic difficulties and clinical follow-up of this patient.

Child↗