Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele.
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Alleles↗
Biomedical subjects
S Esposito
Publications and source records attributed to S Esposito.
Eosinophil involvement and serum IgE level in HIV-1-infected children.
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Adolescent↗
Differential development of type 1 and type 2 cytokines and beta-chemokines in the ontogeny of healthy newborns.
Interleukin (IL)-2, interferon gamma (IFN-gamma; type 1 cytokines), IL-4, and IL-10 (type 2 cytokines), and beta-chemokines (MIP-1alpha and RANTES) production by cord blood lymphocytes (CBL) and peripheral blood lymphocytes (PBL) of newborns was analyzed in a cross-sectional study to examine the maturation of these components of the immune response. Immunophenotyping was performed on the same specimens. Results showed that the CD4/CD8 ratio remains stable, the percentage of natural killer cells decreases, and the number and percentage of B cells increase after birth. Analysis of cytokine production suggested that the production of all cytokines increases gradually and steadily after birth, and that IFN-gamma and IL-10 production is reduced at birth whereas IL-2 and IL-4 production is not. Finally, mitogen-stimulated beta-chemokine production was present at birth and increased slightly but significantly with age. These data indicate that a differential functional maturation of immune response after birth favoring a more precocious development of IL-2 (a type 1 cytokine) is present and should help to analyze the ontogeny of the immune system.
Aging↗
Comparative tolerability of erythromycin and newer macrolide antibacterials in paediatric patients.
The macrolides are a well established group of antibacterials frequently used in general practice. The most frequently used macrolides in paediatric patients are erythromycin, a naturally occurring compound, and clarithromycin and azithromycin, recently developed macrolides. Overall adverse effect rates of 7 to 26% for erythromycin, 14 to 26% for clarithromycin, and 6 to 27% for azithromycin have been described in children. Adverse gastrointestinal effects, including nausea, vomiting, diarrhoea and abdominal cramps, are the most common problems in children. Allergic reactions, hepatotoxicity, ototoxicity and adverse effects involving the central and peripheral nervous systems have also been observed in children. Stevens-Johnson, Schonlein-Henoch and Churg-Strauss syndromes have been rarely described in children. Treatment-related laboratory abnormalities have been recorded in 2 to 4% of erythromycin- and in 0 to 1% of both clarithromycin- and azithromycin-treated children. Elevation in liver function tests was the most common abnormality cited. Increased macrolide use in children in recent years has resulted in a growing potential for drug interactions between them and other pharmacologically active agents via the inhibition of cytochrome P450 (CYP) microsomal enzymes. Drug interactions with theophylline, cyclosporin, carbamazepine, terfenadine and warfarin limit erythromycin use. Clarithromycin is a weak inducer of CYP and exhibits fewer drug-drug interactions than erythromycin. However, its use with theophylline, carbamazepine and terfenadine is contraindicated. In contrast, no significant interactions have been reported with azithromycin to date. Macrolides have been proven to be well tolerated in the treatment of upper and lower respiratory tract infections, skin and soft tissue infections, and also in less frequent infections occurring in paediatric patients. In addition, clarithromycin and azithromycin have shown good tolerability profiles in immunocompromised paediatric patients. In conclusion, macrolides antibacterials have proven to be well tolerated in paediatric patients. Although the incidence of adverse effects is similar with the use of erythromycin and the newer macrolides, drug interactions occur significantly less when clarithromycin or azithromycin are administered.
Anti-Bacterial Agents↗
[Duplication of the vena cava inferior with a continuation into the vena azygos. A report of a rare case].
The embryogenesis of the inferior vena cava is a complicated process involving development, regression, anastomosis and replacement of three pairs of venous channels (posterior cardinal, subcardinal and supracardinal). A rare case of concurrent duplication and azygos continuation of the inferior vena cava is presented; it is caused by an altered development of subcardinal and supracardinal venous channels. This anomaly, without other congenital malformations (splenic or cardiac), has been previously described only in six cases in the literature. In this case contrast-enhanced CT enabled the correct diagnosis to be made. The subsequent cavography confirmed the CT report.
Azygos Vein↗
Diaphragma sellae metastasis from colon carcinoma mimicking a meningioma. A case report.
We describe a rare case of metastatic intra-suprasellar adenocarcinoma from colonic cancer mimicking a meningioma of the "diaphragma sellae". Autopsy studies indicate breast and lung carcinoma to be the most frequent primary tumor metastasizing this site, particularly in patients with systemic spread. While diabetes insipidus is reported to be one of the commonest symptoms in these cases, the only clinical manifestation of the tumor in our patient was a bitemporal hemianopia, while the primary tumor remained asymptomatic. In the available literature are reported only two pituitary metastasis from operated colon carcinoma. In both cases the diagnosis of the colon cancer preceded the pituitary operation. The clinico-pathological and neuroradiological aspects of this unusual lesion are analyzed in the light of the relevant literature on the topic focusing on recent MRI acquisitions.
Adenocarcinoma↗
[Pathology of heart transplantation.(Morphological study of 1246 endomyocardial biopsies from 167 transplanted hearts). Causes of early, intermediate, and late deaths].
From January 1988 through October 1997, 167 cardiac transplants were performed. 1246 endomyocardial biopsies (EMBs) from 138 cardiac allograft recipients were investigated and graded according to the Working Formulation (WF) criteria. The specimens were inadequate in 44 EMBs (3.5%), while 598 (48%) showed no rejection. The grade of rejection was: mild (grade 1A and 1B) in 531 EMBs (42.6%), mild/moderate (grade 2) in 38 (3.1%), and moderate (grade 3A and 3B) in 35 (2.8%). The indications for transplantation were: dilated cardiomyopathy (46.1%); ischemic disease (37.1%); valvular disease (12%); hypertrophic cardiomyopathy (1.8%); myocarditis (1.2%); congenital cardiopathy (0.6%), restrictive cardiomyopathy (0.6%) and chronic rejection (0.6%). The most reliable histologic feature of acute rejection was the myocyte necrosis or damage in presence of pironinophilic mononuclear cell infiltrate, so our protocol requires multifocal or diffuse myocyte damage (rejection grade 3A and 3B) to perform an additional treatment, which was required in 35 cases (2.8%). An intermediate grade mild/moderate 2, was introduced from the WF to classify the EMBs in which the myocyte necrosis was scant or not clear; this grade in our series generally resolves without any additional treatment; in order to monitor the rejection another EMB was performed 5 days after in these patients. The EMBs showed also the following lesions other than acute rejection: Quilty A (79 patients; 57.25%), Quilty B (24 pts; 17.39%), early ischemic necrosis (43 pts; 31.15%) and late ischemic necrosis (5 pz; 3.62%). Quilty B and late ischemic necrosis were correlated with acute rejection (grade 2), furthermore the patients with graft vascular disease showed 3 or more episodes of acute rejection. These findings confirm the relationship between acute and chronic rejection. Furthermore, a relationship between chronic rejection (4 pts) and infection from hepatitis C (antibodies positive 3 pts/4) and cytomegalovirus (antibodies positive 4 pts/4) was found in our series. In the follow-up period (117 months), a 30.72% death rate was recorded; the main causes of death were: early failure of the transplanted heart (30 pts) in 4 of them associated with pulmonary hypertension, infections (6 pts), sudden death (4 pts), graft's vasculopathy (4 pts), acute pancreatitis (1 pts) pulmonary embolism (1 pts), lung (1 pts) and ovary (1 pts) carcinoma, acute rejection (1 pts), others (2 pts). In the early period (< 1 month), the most frequent cause of death was the early failure of the transplanted heart, while in the late period (> 1 year) the chronic rejection following by sudden death and tumours. The actuarial survival curve drops to 83.13% after the first post-operative month, abates to 75.30 at the end of the first year, and progressively decreases to 70.48% at the end of the fifth follow-up year. The mortality rate was 38.7% in pts transplanted for ischemic disease and 24.7% for dilated cardiomyopathy. Cardioplegia seems to play an important role in the success of the heart transplant.
Actuarial Analysis↗
Zidovudine therapy and HIV type 1 mutations in children with symptomatic HIV type 1 infection: effect of switching to didanosine or zidovudine plus didanosine therapy. Italian Multicenter Study Group on HIV Mutations in Children.
Type and prevalence of zidovudine (ZDV) resistance mutations in HIV-1-infected children in clinically stable condition and on ZDV monotherapy were analyzed to evaluate the effect of switching to didanosine (ddI) monotherapy or to ZDV plus ddI on the pattern of mutations and on the clinical outcome. Monthly clinical and laboratory controls for HIV-1 infection status were performed; at enrollment and every 4 to 6 months after treatment randomization mutant proviral sequences were evaluated in all the children, whereas viral burden was performed only in a small subgroup of patients randomly selected in each of the three treatment groups. ZDV resistance-associated proviral DNA mutations were defined as low-level resistance (LLR) mutations or medium/high-level resistance (MHLR) mutations; clinical outcome was considered as stable or deteriorating. Results showed that at entry into the study the duration of ZDV therapy was significantly correlated with the presence of mutations, and that the level of resistance given by mutations was associated with the severity both of symptoms and immunodeficiency. After randomization to treatment, in patients with mutations that confer LLR a better clinical outcome with ddI monotherapy than with ZDV plus ddI and ZDV alone was observed in the subsequent 6 months, whereas in patients with mutations that confer MHLR no significant difference among the three treatment groups was found. Data showed also that levels of viral burden at the time of changing therapy are related to clinical outcome if measured by plasma viral load. These results suggest that genotypic resistance assays, together with viral load, may prove useful for rational treatment decisions both at the start of therapy and with failure.
Anti-HIV Agents↗
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder caused by the deficiency of the enzyme heparin sulfamidase (EC 3.10.1.1), required for the degradation of the mucopolysaccharide heparan sulfate. Patients develop central nervous system degeneration resulting in progressive dementia, developmental delay, hyperactivity, and aggressive behaviour; subjects may present a wide spectrum of clinical severity. Here, we report the results from molecular analysis of 24 Italian MPS IIIA patients diagnosed over the last 15 years in our laboratory. Altogether, we were able to characterize 38 out of the 48 (79%) pathogenic alleles. We identified 16 molecular defects, 13 novel. The majority of alterations were missense mutations: on exon two (Y40N; A44T; S66W; R74C), on exon four (G122R; P128L; L146P; R150Q), on exon five (D179N; R182C), on exon six (P227R) and on exon eight (E369K; R377C). Single base pair deletions: on exon two (A52nt-1) and on exon eight (T360nt-1) and one base pair insertion on exon eight (V361nt+1) were also identified. Restriction enzyme or ARMS analyses were used to confirm each alteration. S66W represents the most common alteration in our patients population accounting for 33% of the total alleles. Interestingly, all six patients from Sardinia present this mutation, and five of them are homozygous for this change, suggesting that these subjects may have been derived from a common founder.
Alleles↗
Hemispherectomy complications in the light of craniocerebral disproportion: review of the literature and rationale for a filling-reduction cranioplasty.
Hemispherectomy has had excellent results in treating drug-resistant seizures of infantile hemiplegia, except for the vulnerability of the remaining hemisphere. The hemispherectomy cavity has been considered responsible for early and late complications. Modified techniques have been widely performed and are not without complications. CNS hemosiderosis is probably not the only explanation; the craniocerebral disproportion following the surgery, the shunt effect and low pressure of the cavity should also be taken into account. Splinting the remaining hemisphere to avoid its dislodgment could be important. One of our patients who suffered a series of complications hitherto unreported in the literature was eventually treated with a filling-reduction cranioplasty. The rationale for the technique can be inferred from the literature reviewed in the article. Our technique is validated by a follow-up of 28 years since the hemispherectomy and 13 years since treatment for complications.
Brain↗
Incidence of Chlamydia pneumoniae infection in vertically HIV-1 infected children.
The rate of seroconversion for antibody to Chlamydia pneumoniae was analysed in blood samples of 26 vertically HIV-1 infected children and 14 seroreverter children (HIV-negative children born to HIV-positive mothers) during a 3-year study period. Seroconversion for Chlamydia pneumoniae was found in 13 of 26 HIV-1 infected children and in 1 of 14 in the seroreverter group (P=0.013). A lower mean CD4+ cell count and p24 antigen positivity at enrolment were significantly associated with seroconversion for Chlamydia pneumoniae. Signs and symptoms of acute respiratory infection were recorded in the 30 to 40 days preceding collection of the blood samples showing seroconversion for Chlamydia pneumoniae in 8 of 13 HIV-1 infected children and in the single seroreverter. This study confirms the potential role of Chlamydia pneumoniae in the pathogenesis of respiratory tract infections in HIV-1 infected subjects.
Child, Preschool↗
Effect of superimposed infections on viral replication in human immunodeficiency virus type 1-infected children.
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Bacterial Infections↗
Role of CCR5 chemokine receptor gene in vertical human immunodeficiency virus type 1 transmission and disease progression.
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Child↗
Clinical applications of neuroimaging in psychiatry.
New techniques are dramatically expanding current clinical applications of neuroimaging in neuropsychiatry. Neuroimaging research that examines brain structure and function relationships in neuropsychiatric disorders is also enhancing our understanding of the pathophysiology of neuropsychiatric illnesses such as dementia, focal CNS insult, schizophrenia, affective disorders, and neurodevelopmental disorders.
Brain↗
The thyroid axis and mood disorders: overview and future prospects.
For over 200 years, the relationships between neuroendocrine systems and mental illness have been studied. Research has focused in substantial part on mood disorders and thyroid axis function. This review presents a brief examination of the history and the progress in this area of investigation. Consideration is given to mood states in thyroid disorders, as well as to thyroid function in mood disorders. Thyroid hormones, usually in conjunction with standard medications, can be used to treat both manic and depressed phases of mood disorders. The review with a presentation of some of the many issues that merit further investigation.
Affective Disorders, Psychotic↗
Echistatin induces decrease of pp125FAK phosphorylation, disassembly of actin cytoskeleton and focal adhesions, and detachment of fibronectin-adherent melanoma cells.
B16-BL6 mouse melanoma cells cultured on fibronectin-coated dishes were detached by treatment with echistatin, an RGD-containing disintegrin. Echistatin was active at micromolar concentrations and was not cytotoxic. Its effect was dose-dependent and reversible. Sequential morphological changes leading to rounding up of the cells were detected by phase-contrast microscopy and by immunofluorescence analysis. A dramatic reduction in the number and size of focal adhesions and loss of cytoplasmic actin filaments were observed well before cell detachment occurred. Echistatin treatment down-regulated the phosphorylation of pp125FAK in fibronectin-adherent cells in a dose- and time-dependent fashion. The reduction of pp125FAK phosphorylation preceded cell detachment and occurred even in the presence of orthovanadate, an inhibitor of protein tyrosine phosphatases. These results suggest that echistatin detaches cells from the fibronectin substratum by inducing a decrease of pp125FAK phosphorylation and that echistatin acts by inhibiting protein tyrosine kinase activity rather than activating protein tyrosine phosphatases.
Actin Cytoskeleton↗
[Static functional study with magnetic resonance of anterior shoulder instability].
We studied the glenohumeral joint, in its different components, with cine MRI. Ten asymptomatic volunteers and 6 patients with recurrent shoulder instability were examined with T2-weighted GE MR sequences on the axial plane with the subjects' arms rotated in different positions. The sections corresponding to the subcoracoid space and bicipital groove were recorded in closed-loop video format for cine display. Normal morphological glenoid labrum changes were demonstrated in different degrees of humerus rotation. The subscapularis tendon and the capsule were redundant and infolded toward the joint on internal rotation in 4/6 patients. We found capsular detachment in 2 patients, humeral head subluxation in 3 and subcoracoid impingement in 2 patients. Cine MRI permitted the accurate study of the changes in the glenoid labrum, capsule and subscapularis tendon in all patients and it also showed narrowed coracohumeral distance (< 11 mm) on internal rotation.
Humans↗
[Computerized tomography of osteochondral diseases of the talus dome].
The definition "osteochondritis dissecans" of the talus improperly includes a variety of diseases involving the chondral surface of the talus dome and the relative subchondral bone. To investigate the CT diagnostic potentials in the study of these conditions, 35 patients complaining of a "painful ankle" were examined with plain radiography and axial and direct paracoronal CT over a 2-year period. Twelve patients were then examined with double contrast CT arthrography with air and iodated contrast agents. CT diagnostic accuracy was assessed evaluating the following parameters: the presence and extent of the subchondral bone fragment, the presence of residual bone fragment attachment at the lesion base or its intraarticular dislocation, the presence of subchondral bone cysts, of chondral surface lesions and, finally, of capsular and ligamentous damage. All the patients with CT findings of osteochondral conditions of the talus dome were submitted to arthroscopic examination/treatment and/or surgical arthrotomy. Baseline CT exams accurately depicted all the lesions, except for early (grade I) lesions. Moreover, the administration of intraarticular contrast agent (CT arthrography) increased the diagnostic accuracy in articular cartilage studies. Therefore, the authors believe baseline CT on the orthogonal planes to represent an effective tool for the staging of osteochondral talar lesions and for accurate treatment planning.
Adolescent↗