Search PubMed⌕ Search

Biomedical subjects

M Mazzocco

Publications and source records attributed to M Mazzocco.

At least 19 recordsLinked to original sources
PubMed2004

Foscarnet therapy for congenital cytomegalovirus liver fibrosis following prenatal ascites.

We report on an infant with multi-system disease including liver fibrosis, right microphthalmia with cataract, interstitial pneumonitis, and hyperechoic lesions in the basal ganglia and in the periventricular and thalamic regions. Prenatal ascites with hepatomegaly concomitantly with detection of cytomegalovirus (CMV) DNA in the amniotic fluid, following recurrent maternal CMV infection, had been shown. Although CMV culture and DNA detection were negative in the urine, the infant was given foscarnet because CMV infection was demonstrated in the liver by DNA detection and immunohistochemical staining. Favorable clinical outcome and absence of CMV in the liver were subsequently shown. Our case suggests that congenital CMV disease following maternal recurrence may not be associated with disseminated infection but only with intracellular infection. The diagnosis should therefore be based on CMV detection in the involved organs. Moreover, this is the first report on the possible efficacy and safety of foscarnet for therapy of immunocompetent infants with congenital CMV disease.

Adult↗
PubMed2003

Three-dimensional sonography and hysterosalpingosonography in the diagnosis of uterine anomalies.

Uterine anomalies implicated in female subfertility, implantation failure and miscarriages can often be detected often by two-dimensional transvaginal (2D TV) ultrasound scanning. When used as a screening test TV ultrasound has provided sensitivity rates of up to 100% about uterine anomalies. Improved depiction has been achieved with the development of hysterosalpingosonography (HSSG). The anechoic interface provided by the saline solution allows the examiner to determine whether an abnormality is intracavitary, endometrial, or submucosal. The aim of this study was to evaluate the role of 2D TV contrast sonography and 3D TV ultrasound in the diagnosis of congenital uterine anomalies in comparison with their appearance of hysterosalpingosonography findings.

Adolescent↗
PubMed2001

A novel human homologue of the SH3BGR gene encodes a small protein similar to Glutaredoxin 1 of Escherichia coli.

Glutaredoxins (GRXs) are ubiquitous GSH-dependent oxidoreductases, which catalyze the reduction of protein-glutathionyl-mixed disulfides and are considered to play an important role in the enzymatic regulation of redox-sensitive proteins. In this paper, we describe the identification and characterization of a new human homologue of the SH3BGR gene, named SH3BGRL3 (SH3 domain binding glutamic acid-rich protein like 3). SH3BGRL3 is widely expressed and codes for a highly conserved small protein, which shows a significant similarity to Glutaredoxin 1 (GRX1) of Escherichia coli and is predicted to belong to the Thioredoxin Superfamily. However, the SH3BGRL3 protein lacks both the conserved cysteine residues, which characterize the enzymatic active site of GRX. This structural feature raises the possibility that SH3BGRL3 could function as an endogenous modulator of GRX biological activity. EGFP-SH3BGRL3 fusion protein expressed in COS-7 cells localizes both to the nucleus and to the cytoplasm. The SH3BGRL3 gene was mapped to chromosome 1p34.3-35.

Amino Acid Sequence↗
PubMed2000

Developmental expression of the SH3BGR gene, mapping to the Down syndrome heart critical region.

The SH3BGR gene has been recently isolated and mapped to chromosome 21 within the Down syndrome (DS) congenital heart disease (CHD) minimal region. As a first step to evaluate the possible involvement of SH3BGR in CHD that affect 40% of DS patients, we have analyzed by in situ hybridization the expression pattern of the mouse homolog gene (Sh3bgr), during development. Our results show that Sh3bgr is already expressed at embryonic day 7.75 (E7.75) in the precardiogenic mesoderm and that from E8.5 to E10.5 its expression is restricted to the heart. In subsequent developmental stages, Sh3bgr transcripts are also detected in skeletal muscle and in some visceral smooth muscles including urinary bladder and gut wall, but not in vascular smooth muscle. Our results, demonstrating that Sh3bgr is expressed in earliest stages of mouse heart development, support a possible role of this gene in heart morphogenesis and, consequently, in the pathogenesis of CHD in DS.

Animals↗
PubMed2000

[Therapy or prevention of fetal infection by cytomegalovirus with immunoglobulin infusion in pregnant women with primary infection].

OBJECTIVE: Administration of cytomegalovirus (CMV)-specific immunoglobulins to pregnant women with primary CMV infection in order to inhibit viral activity. MATERIALS AND METHODS: We considered 2 groups of patients including 24 pregnant women. GROUP A: 12 women with primary maternal-fetal CMV infection, shown by CMV culture and CMV DNA detection in 9 (75%) and by only CMV DNA detection in 3 (25%) of the amniotic fluid (AF) samples. These pregnant women were treated with infusions of CMV-specific immunoglobulins (200 U/Kg of maternal weight and 400 U/Kg of fetal weight to prevent CMV pneumonia and gastroenteritis). As control group we considered 15 pregnant women, 5 of whom had CMV-positive AF samples demonstrated by polymerase chain reaction (PCR) and 10 also by CMV culture. GROUP B: 12 women with primary CMV infection, who were treated with monthly infusions of specific immunoglobulins to prevent the transmission of CMV to the fetus. In the control group we followed up 53 patients who were not treated, including 15 subjects with CMV-positive AF samples, 20 with CMV-negative AF samples and 18 women who did not accept amniocentesis. RESULTS GROUP A: All 9 neonates born to mothers with culture and DNA positive AF samples were CMV infected. On the contrary, the babies born to 3 women with only PCR-positive amniotic fluid were CMV-negative by culture and DNA detection. Of 9 neonates infected, 8 were asymptomatic and 3 became culture-negative before they were one year old. The only symptomatic baby (IUGR and ventriculomegaly diagnosed by ultrasound during the pregnancy) was treated with ganciclovir and foscarnet. Of 15 non-treated patients, 11 had ultrasound signs of placental and/or fetal CMV involvement. Seven of these (46%) aborted and 4 (27%) delivered neonates with severe symptomatic infection. The other 4 patients delivered oligo-symptomatic CMV infected neonates positive by culture or PCR only. Overall, the prevalence of symptomatically infected neonates or fetuses was significantly higher (p = 0.02) among non-treated than treated women. Moreover, the babies of treated women showed less prolonged (p = 0.01) viruria than those of non-treated patients. GROUP B: all 11 pregnant women, treated with immunoglobulins delivered CMV-negative neonates. One patient, who had interrupted infusions at the 24th gestation week, delivered an asymptomatic CMV infected baby. In the control group, 4 women with CMV-negative AF samples delivered neonates with asymptomatic infection. Of 18 patients who did not undergo amniocentesis, 9 (50%) aborted; of remaining 9 women, 3 (33%) delivered CMV infected neonates. CONCLUSIONS: Our data suggest that CMV immunoglobulins may be effective for treatment or prevention of fetal CMV infection.

Cytomegalovirus Infections↗
PubMed1999

Multi-system cytomegalovirus fetopathy by recurrent infection in a pregnant woman with hepatitis B.

A pregnant woman with acute hepatitis B virus (HBV) infection had her second pregnancy terminated at 25 weeks' gestation because of fetal ascites and ventriculitis. Meconium peritonitis was also found at autopsy. No HBV DNA but cytomegalovirus (CMV) DNA was detected in the fetal liver and ascitic fluid. Recurrent maternal CMV infection was demonstrated by pre-existing CMV IgG antibodies, high IgG avidity and low IgM levels. After abortion, the patient developed chronic active hepatitis. Nevertheless, having become pregnant again with a new partner, she had an uneventful third pregnancy and gave birth to a healthy boy.

Abnormalities, Multiple↗
PubMed1999

Hyperimmunoglobulin therapy for a twin fetus with cytomegalovirus infection and growth restriction.

OBJECTIVE: Cytomegalovirus immunoglobulin was administered to a pregnant woman with primary cytomegalovirus infection and placental involvement of 1 twin fetus, in whom growth restriction had developed. STUDY DESIGN: Inhibition of viral activity was attempted by administration of high-titer cytomegalovirus neutralizing antibodies for therapy of the involved fetoplacental unit and prevention of cytomegalovirus infection in the uninfected twin fetus. RESULTS: After cytomegalovirus immunoglobulin infusions the placental edema decreased and the infected fetus started to grow once again, showing at birth only hepatosplenomegaly associated with viruria and cytomegalovirus deoxyribonucleic acidemia. Moreover, cytomegalovirus immunoglobulin G avidity increased and cell-mediated immunity improved. The other twin, who had negative results of cytomegalovirus culture and deoxyribonucleic acid detection at birth, was found to have cytomegalovirus deoxyribonucleic acid in the urine after 1 week. From the age of 9 months, however, both twins had persistent negative results of cytomegalovirus deoxyribonucleic acid detection. CONCLUSION: Although large-scale studies are needed to establish the real efficacy and the best therapeutic regimen, cytomegalovirus immunoglobulin may be considered for treatment or prevention of fetal cytomegalovirus infection.

Adult↗
PubMed1999

Prenatal diagnosis of fetal cytomegalovirus infection after primary or recurrent maternal infection.

OBJECTIVE: To determine the reliability of prenatal diagnosis of cytomegalovirus infection in women with primary or recurrent infection. METHODS: Amniotic fluid (AF) samples from 117 pregnant women were evaluated for cytomegalovirus culture and cytomegalovirus-DNA detection. Neonatal and postnatal samples also were examined to confirm or exclude transmission of maternal-fetal cytomegalovirus infection. RESULTS: Of 25 women with primary cytomegalovirus infection, 13 (52%) had cytomegalovirus-positive AF samples by polymerase chain reaction (PCR), nine of which also were diagnosed by culture. All eight neonates born to mothers whose AF was cytomegalovirus-positive by PCR and culture were cytomegalovirus infected, and three were symptomatic. One aborted fetus had cytomegalovirus-DNAemia. Of four women with cytomegalovirus-positive AF samples by PCR only, two delivered asymptomatic cytomegalovirus-infected neonates and two aborted (one fetus had cytomegalovirus encephalopathy). Of 45 mothers with recurrent infection, two with AF cytomegalovirus-positive by PCR and culture, and another with cytomegalovirus-positive AF samples by PCR only, aborted cytomegalovirus-DNA-positive fetuses. Of the other seven women with cytomegalovirus-positive AF samples by PCR only, two delivered asymptomatic cytomegalovirus-infected neonates, two delivered neonates cytomegalovirus-positive by PCR only (one was symptomatic), and three delivered infants cytomegalovirus-negative by PCR and culture. All 47 mothers with nonactive cytomegalovirus infection and cytomegalovirus-negative AF samples had uninfected neonates. Polymerase chain reaction was superior to viral culture in sensitivity and negative predictive value (100% compared with 57% and 94%, respectively) but was lower in specificity and positive predictive value (97% and 83%, respectively, compared with 100%). CONCLUSION: Prenatal diagnosis of fetal cytomegalovirus infection should include PCR in addition to viral culture, particularly for congenital cytomegalovirus infections following maternal recurrence.

Adult↗
PubMed1999

The effect of primary cytomegalovirus infection on fetal lung maturity indices.

The aim of this study was to evaluate the impact of primary cytomegalovirus (CMV) infection on fetal pulmonary surfactant production as assessed by different tests for the diagnosis of fetal lung maturity (FLM) on amniotic fluid (AF). A cross-sectional cohort study. AF samples from 11 pregnant women with primary CMV infection were examined for FLM between the 26th and 37th week of gestation. Normal pregnancies (n = 11) were matched for gestational age at amniocentesis and at delivery, birth weight, Apgar score and gender sex. FLM was assessed by planimetric and stoichiometric lecithin to sphingomyelin ratio (L/S), phosphatidylglycerol (PG) presence and lamellar bodies count (LB). Maternal immunological parameters (T-cells, natural killer [NK] activity) were also considered. Mean planimetric L/S ratio (4.2+/-2.1 vs 2.3+/-0.7, P < 0.01) and LB count (42.6 x 10(3)+/-19.0 x 10(3) vs 16.8 x 10(3)+/-11.5 x 10(3), P < 0.004) were higher in controls when compared to CMV infected patients. Moreover, planimetric L/S ratio was higher in five CMV non-infected babies compared to six CMV-infected babies (3.1+/-1.3 vs 1.9+/-0.8, P < 0.05). When FLM was related to maternal immunological results, planimetric and stoichiometric L/S and LBs count were negatively correlated with CD8+ T-cells (r = -0.8, P < 0.05; r = -0.9, P < 0.05; r = -0.9, P < 0.01, respectively); LBs was also negatively correlated with CD14+ T-cells (r = -0.8, P < 0.03). In contrast, a positive correlation was found between stoichiometric L/S and NK activity (r = 0.9, P > 0.01). Maternal primary CMV infection impairs FLM indices as a possible result of reduced surfactant release and/or production. Significant correlations were found between immunity status of CMV-infected mothers and FLM tests.

Amniotic Fluid↗
PubMed1998

Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene.

As part of an effort to identify genes potentially involved in the Down Syndrome pathogenesis, in this paper we report the identification and characterization of a new human gene (named SH3BGRL), which shows a high homology to the SH3BGR gene, previously mapped to the Down Syndrome region of chromosome 21. The SH3BGRL gene encodes for a small protein of 114 amino acids, sharing 60% identity and 84% conservation on the amino acid level with the middle, proline-rich region of the SH3BGR gene and containing a similar SH3 (Scr homology 3) binding motif. The SH3BGRL and the proline-rich region of SH3BGR proteins appear to be highly conserved, sharing 95 and 98% identity, respectively, with the mouse homologues. A 1.9 kb transcript of the SH3BGRL gene has been found in all the tissues examined, in contrast with the expression pattern of the SH3BGR gene which is transcribed only in heart and skeletal muscle. The SH3BGR gene and its homologue, SH3BGRL, could be members of a new family of genes containing a highly conserved proline-rich functional domain. The SH3BGRL gene has been mapped by fluorescent in situ hybridization to Chromosome Xq13.3.

Amino Acid Sequence↗
PubMed1998

Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein.

Congenital heart disease (CHD) affects over 40% of Down syndrome (DS) patients. The region proposed to contain the gene(s) for DS CHD has been restricted to 21q22.2-22.3, from D21S55 to MX1. The identification and functional characterization of the genes mapping to this region is a necessary step to understand the pathogenesis of CHD in DS. In an effort to contribute to the construction of a transcriptional map of the DS CHD region we have performed direct cDNA selection using a YAC contig that maps between ETS2 and D21S15 and cDNAs synthesised from fetal heart structures. Here we describe the identification and characterization of a new gene, WRB, that maps to 21q22.3 between ACTL5 and HMG 14 and appears to be widely expressed in adult and fetal tissues. The new gene encodes a basic protein of unknown function containing a tryptophan-rich carboxyl-terminal region and a potential nuclear localization signal. Immunofluorescence analysis shows a predominant localization in the cell nucleus. The understanding of the biological function of the protein product should clarify the potential role of WRB in the pathogenesis of DS CHD.

Adult↗
PubMed1998

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies, including autosomal dominant and recessive forms. To date, two autosomal dominant forms have been recognized: LGMD1A, linked to chromosome 5q, and LGMD1B, associated with cardiac defects and linked to chromosome 1q11-21. Here we describe eight patients from two different families with a new form of autosomal dominant LGMD, which we propose to call LGMD1C, associated with a severe deficiency of caveolin-3 in muscle fibres. Caveolin-3 (or M-caveolin) is the muscle-specific form of the caveolin protein family, which also includes caveolin-1 and -2. Caveolins are the principal protein components of caveolae (50-100 nm invaginations found in most cell types) which represent appendages or sub-compartments of plasma membranes. We localized the human caveolin-3 gene (CAV3) to chromosome 3p25 and identified two mutations in the gene: a missense mutation in the membrane-spanning region and a micro-deletion in the scaffolding domain. These mutations may interfere with caveolin-3 oligomerization and disrupt caveolae formation at the muscle cell plasma membrane.

Adolescent↗
PubMed1997

A new fast-moving variant causing erythrocytosis and mild hemolysis: Hb Gàmbara [beta 82(EF6)Lys-->Glu].

Hb Gàmbara is a new hemoglobin variant with abnormal beta chains that has been found in three out of four members of a family of Lombardy origin (Gàmbara, Brescia, Northern Italy). The affected subjects led a normal life, but they had modest erythrocytosis and mild (compensated) hemolysis with slight splenomegaly. Their abnormal hemoglobin was about 52% of the total hemoglobin, and was shown to be stable by the isopropanol test. Whole blood P50 of the proband was 19.3 Torr, Bohr effect was decreased (-0.25), as well as the molar ratio between the 2,3-diphosphoglycerate level and total hemoglobin of erythrocytes (0.68). The purified abnormal hemoglobin was characterized by an altered oxygen affinity, low n-factor, chloride, and 2,3-diphosphoglycerate effects. The Bohr effect was about 40% of the normal control. The abnormal hemoglobin moved faster than Hb A at alkaline electrophoresis, and split into two fractions, probably due to the formation of hybrid tetramers (alpha 2 beta A beta X). The reversed phase high performance liquid chromatogram from the tryptic digest of the aminoethylated abnormal beta chain subunits indicated the presence of an extra peptide, beta T-9, 10, replacing the individual peptides beta T-9 and beta T-10. Finally, the proband's DNA, drawn from a suitable segment of the beta structural gene (exon 2), revealed a nucleotide sequence carrying the heterozygous mutation AAG-->GAG at codon 82. This led to a Lys-->Glu substitution at position 82(EF6) of the beta chain.

Electrophoresis↗
PubMed1997

Postpartum lupus erythematosus associated with parvovirus B19 infection.

We describe postpartum onset of systemic lupus erythematosus (SLE) associated with parvovirus B19 infection in a mother presenting with fever, polyarthritis, erythema, and multiorgan involvement. B19 infection was revealed by detection of B19 DNA and IgM antibodies. In addition, our patient showed low CD4+ (384 x 10(6)/l) and CD8+ (213 x 10(6)/l) T cells, high immunoglobulin values (23.77 g/l), hypocomplementemia, thrombocytopenia, leukopenia, and anemia. Her daughter had rash associated with increasingly high B19 IgG levels and transient antinuclear and anti-ds-DNA antibodies, suggesting that both development of SLE and active B19 infection occurred in pregnancy and B19 was transmitted prenatally. A 2 year followup showed persisting polyarthritis in the mother and atopy in the daughter.

Adult↗
PubMed1996

Rapid progression of HIV disease in children with cytomegalovirus DNAemia.

OBJECTIVE: In HIV-1-infected children, active cytomegalovirus (CMV) infection can cause severe clinical manifestations and accelerate progression of HIV disease. However, sufficient quantities of blood samples may not be available either for culture or detection of CMV DNA or antigens in white blood cells. The aim of this study was to investigate the diagnostic and prognostic significance of detecting CMV DNA in serum samples from HIV-1-infected children. DESIGN: Sera from 55 children (18 boys), aged 2-130 months (mean, 49.8 months), with perinatal HIV-1 infection and clinical manifestations attributable to CMV infection were tested for CMV DNA by nested polymerase chain reaction and for class-specific CMV antibodies [immunoglobulin (Ig) G, IgA, IgM] by enzyme-linked immunosorbent assay. The children were followed up for 2 days to 59 months (mean, 25.5 months). RESULTS: CMV infection was demonstrated in 43 children (74.5%), 18 of whom (42%) were positive for CMV DNA. During the follow-up, 13 children with CMV infection (30.2%) died, including 11 (84.6%) who were positive for CMV DNAemia just before death. Of these children, seven died soon after hospitalization without antiviral treatment, and four died despite therapy with ganciclovir or foscarnet. Post-mortem CMV inclusions were revealed in seven out of eight children who underwent autopsy. The two other children who died also had progressive CMV disease and received ganciclovir until death. In comparison with CMV-seropositive children without CMV DNAemia, children with CMV DNAemia showed significantly shorter mean survival time (42.5 versus 60 months; P < 0.01), lower final CD4+ T-cell count (218 versus 499 x 10(6)/1; P < 0.01) and higher mortality rate (P < 0.0001). CONCLUSIONS: The detection of CMV DNA in serum is of value for diagnosis of active CMV infection in HIV-1-positive children, and CMV DNAemia is a good prognostic indicator of severe outcome of HIV disease.

Antibodies, Viral↗
PubMed1995

Clinical and ultrasonographic implications of uterine leiomyomatosis in pregnancy.

OBJECTIVE: To study the complications related to leiomyomatosis in pregnancy by clinical and ultrasonographic assessment. DESIGN: A retrospective study. SUBJECTS: All pregnancies admitted to the 2nd Institute of Gynecology and Obstetrics, Policlinico Umberto I, in the period between January 1992 to December 1993 were surveyed. RESULTS: Gestational age at the time of ultrasonographic neoplasm diagnosis was 25.1 +/- 13.4 weeks, 'we found no correlation between maternal age or parity affecting pregnancy outcome, Leiomyomatosis complicated pregnancy rate was 1.68%. Myomatosis was diagnosed clinically in 25 of 67 cases (37.3%). Regarding the location of the neoplasm, 59% was located in the corpus-uteri, 21% was considered a diffuse neoplasm and the 14% was located in the fundus. Threatened abortion was the most frequent complication (20%), abortion was the second (16.4%). We observed an increased abortion threat rate (p < 0.001) in those cases where the leiomyoma was in relation with the placenta. We had a surgery rate of 76% in pregnancies complicated by myomatosis, and the indication for surgery was given either primarily or exclusively by the presence of myomatous formation in 19 cases (50%). CONCLUSIONS: Our study suggests that location of the leiomyoma in relation to the placenta is a higher risk factor than its size, and that there is a higher risk for threats of abortion and abortion rates in pregnancies complicated by leiomyomatosis. We recommend that every pregnant woman with a suspected myoma should be ultrasonographically scanned.

Adult↗
PubMed1989

[Intermittent locking. Clinical case].

The Author reports a case of chronic closed lock of TMJ treated by inferior repositioning appliance. In management of internal derangement is useful to perform a diagnostic follow up using tomographic images of TMJs before and during treatment. In this way you can drive the splint therapy and set a new position of the mandible up in the better way.

Dental Occlusion↗