Macro-AST as cause of unknown hypertransaminasaemia.
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Biomedical subjects
Publications and source records attributed to A Moro.
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BACKGROUND: Hecht and Beals in 1969 described an autosomal dominant syndrome characterised by severe restriction of mouth opening, camptodactyly, shortness of leg muscles and, as a direct consequence, foot deformities. CASE REPORT: A case of a 4-year-old girl affected by this unusual syndrome is described. The patient underwent bilateral resection of coronoid processes by intraoral approach. An intraoral device was used in the immediate postoperative period in order to maintain mouth opening. Once at home, the patient has had, for six months, phisiokinesic therapy by means of a modified Darcissac device.
BACKGROUND: Nine cases of persistent or complicated cyst were analyzed in an attempt to answer two questions: whether laparoscopic treatment of ovarian cyst in the newborn is justified and whether a pneumoperitoneum can be used in such infants. METHODS: Laparoscopic treatment was used for nine newborn babies. The children were 4 days to 2.5 months old. Cyst size ranged from 36 to 72 mm in length. RESULTS: The treatment was exclusively laparoscopic in six cases, and the other three cases required conversion. A maximal insufflation of 4 mmHg was used in five cases. Adnexectomy was necessary in three cases. The duration of the laparoscopic procedure was 20 to 75 min, and that of the postoperative stay was 1 to 5 days. There were no intraoperative or postoperative complications. CONCLUSIONS: Laparoscopy in the newborn is justified, but only in the hands of well-trained teams. The use of a pneumoperitoneum is possible, but should be reserved for difficulties with abdominal wall suspension.
The authors evaluate the possible use of osteodistraction techniques to restore the vertical dimension of the mandibular ramus after reduction during surgical treatment of TMJ ankylosis. They report the case of a fully grown female patient with monolateral right TMJ ankylosis following previous fracture injury who was treated at the Maxillofacial Surgery Unit of George Eastman Hospital in Rome. The patient underwent removal of the ankylotic block and the concomitant restoration of the vertical dimension of the mandibular ramus achieved using subperiosteal osteodistraction. Bichat's bubble flap was used as the interarticular interposition material. The distractor was activated one week after surgery with daily increments of 1 mm for a total of 7 days. Clinical and instrumental tests performed after the removal of the distractor and after a cycle of physiotherapy confirmed the good functional recovery of the joint and the restored vertical dimension of the mandibular ramus. The authors affirm that the method used represents a valid alternative for correcting loss of height after extensive resection of ankylotic joint processes in fully-grown patients.
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The absence of the fragile X mental retardation protein (FMRP), encoded by the FMR1 gene, is responsible for pathologic manifestations in the Fragile X Syndrome, the most frequent cause of inherited mental retardation. FMRP is an RNA-binding protein associated with polysomes as part of a messenger ribonucleoprotein (mRNP) complex. Although its function is poorly understood, various observations suggest a role in local protein translation at neuronal dendrites and in dendritic spine maturation. We present here the identification of CYFIP1/2 (Cytoplasmic FMRP Interacting Proteins) as FMRP interactors. CYFIP1/2 share 88% amino acid sequence identity and represent the two members in humans of a highly conserved protein family. Remarkably, whereas CYFIP2 also interacts with the FMRP-related proteins FXR1P/2P, CYFIP1 interacts exclusively with FMRP. FMRP--CYFIP interaction involves the domain of FMRP also mediating homo- and heteromerization, thus suggesting a competition between interaction among the FXR proteins and interaction with CYFIP. CYFIP1/2 are proteins of unknown function, but CYFIP1 has recently been shown to interact with the small GTPase Rac1, which is implicated in development and maintenance of neuronal structures. Consistent with FMRP and Rac1 localization in dendritic fine structures, CYFIP1/2 are present in synaptosomal extracts.
Many paradigms employed so far with functional imaging in language studies do not allow a clear differentiation of the semantic, morphological, and syntactic components, as traditionally defined within linguistic theory. In fact, many studies simply consider the brain's response to lists of unrelated words, rather than to syntactic structures, or do not neutralize the confounding effect of the semantic component. In the present PET experiment, we isolated the functional correlates of morphological and syntactic processing. The neutralization of the access to the lexical-semantic component was achieved by requiring the detection of anomalies in written sentences consisting of pseudowords. In both syntactic and morphosyntactic processing, the involvement of a selective deep component of Broca's area and of a right inferior frontal region was detected. In addition, within this system, the left caudate nucleus and insula were activated only during syntactic processing, indicating their role in syntactic computation. These findings provide original in vivo evidence that these brain structures, whose individual contribution has been highlighted by clinical studies, constitute a neural network selectively engaged in morphological and syntactic computation.
Surface hydrophobicity of whey protein concentrate (WPC) under heated (85 degrees C for 5, 10, 20, 30, 40, and 60 min) and unheated conditions was measured using cis-parinaric acid (CPA), 1-anilino-8-naphthalenesulfonate (ANS), and a fluorescence quenching method using acrylamide as a quencher. This last method evaluates the degree of exposure of tryptophanyl residues in proteins to the solvent. The initial slope of Stern-Volmer plots, K(app), was used as an index of protein hydrophobicity. Surface hydrophobicity of WPC exhibited good relation with surface functional properties such as emulsifying and foaming. Analysis of the data obtained in this work showed that the fluorescence quenching method gave results similar to those obtained using CPA and ANS. Therefore, this simple technique is satisfactory in effectively obtaining information about the hydrophobicity of whey proteins.
p27(Kip1) is one of the key regulatory proteins in cell cycle through inhibition of pRB phosphorylation by suppression of the activity of several cyclin/Cdk complexes. The expression of p27(Kip1) has been shown to be controlled by a posttranslational mechanism, although vitamin D(3) and neuronal differentiation can also induce its mRNA. Recently, the p27(Kip1) promoter was isolated and sequenced from a human leukocyte genomic library. In this report, we demonstrate that IFNalpha 2b, activates the human p27(Kip1) promoter-driven luciferase reporter gene in transient expression assays in H82 cells. This induction might involve two IRF 1-like binding sites present in the p27(Kip1) promoter. To our knowledge this is the first report on the direct activation of the human p27(Kip1) promoter by IFNalpha 2b.
Petrovic and Lavergne have proposed a classification of facial growth, consisting of 6 growth categories, according to which patients belonging to growth category 5 at the beginning are supposed to have greater mandibular growth during treatment than patients belonging to growth category 3. We tested this hypothesis with 2 groups of Class II patients: 25 from growth category 3 and 25 from category 5. Both groups consisted of males and females and had starting ages that ranged from 10 to 15 years. Treatment was carried out with a nonangulated edgewise appliance in conjunction with the extraction of four first premolars. The Johnston "Pitchfork" analysis was used to assess treatment changes. It showed that the molar correction was almost identical in amount in growth categories 3 and 5. Its source, however, was not. Differential jaw growth (ABCH) accounted for 75% of molar correction in category 3, but 107. 5% in category 5. On average, there was 1.9 mm of extra mandibular advancement relative to cranial base in category 5 as compared with that of category 3. Mandibular advancement was the most important single factor for the molar and overjet corrections in both groups. Treatment success, evaluated according to Lavergne's treatment objectives, showed that edgewise extraction therapy with headgear is more suitable to patients in category 3 than to the ones in category 5. Further research should explore the treatment methods and goals appropriate to these two growth categories.
IFNs arrest the growth of a small cell lung cancer (SCLC) cell line NCI-H82 in the G1 phase but not the growth of the derived cell line NCI-H82R. Progression through the G1 phase is controlled by positive and negative regulatory genes. Oncoviral genes can override this control. In this study, we compared the effects of human IFN alpha 2b on the mRNA levels of the Cdk inhibitor p27Kip1 in NCI-H82, NCI-H82R and HPV 16 E7-transfected NCI-H82 cell lines. Induction of the 2-5 Oligoadenylate synthetase (2-5 OAS) gene was used as a marker of IFN-dependent signal transduction The expression of p27Kip1 mRNA increased at 48 and 72 hr after IFN alpha 2b addition in sensitive cells. In contrast, p27Kip1 mRNA had only slight variations in both the resistant and E7-transfected cells. Interestingly, the E7-transfected NCI-H82 cells became resistant to the IFN alpha 2b anti-proliferative effect. Our results suggest that p27Kip1 could be a key mediator of the IFN alpha 2b-induced growth arrest and that HPV 16 E7 might affect p27Kip1 inducibility, originating IFN alpha 2b-resistant cells.
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To study the effect of several cyclins on cyclin B1 promoter activation, we co-transfected cyclin A. cyclin E and cyclin D1 expressing plasmids with a cyclin B1 promoter construction driving a luciferase reporter gene into NIH 3T3 cells. All three cyclins produced activation of the reporter gene, however, co-transfection of cyclin A with a Cdk2 dominant negative mutant blocks activation by cyclin A. Our results suggest that cyclin B1 activation depends on Cdk2 kinase activity associated to cyclin A. To our knowledge this is the first report showing positive effect of cyclin A, cyclin E and cyclin D1 on cyclin B1 activation and blocking of this activation by a Cdk2 dominant negative mutant.
We have expressed an unfused E7 protein from human papillomavirus 16 into Escherichia coli by using a T7-RNA polymerase system. E7 mRNA was detected one hour after promoter induction. Western blot analysis using either a murine monoclonal antibody elicited against E7 or sera from cervical carcinoma patients demonstrated that recombinant E7 expressed in E. coli reacted to both of them, and a 21 kD band is observed as a positive signal. This protein provides a suitable material for further protein structure and immunological studies and offers a screening tool for identification of circulating antibodies in human sera.
Macrophage infectivity potentiators are membrane proteins described as virulence factors in bacterial intracellular parasites, such as Legionella and Chlamydia. These factors share amino acid homology to eukaryotic peptidyl-prolyl cis-trans isomerases that are inhibited by FK506, an inhibitor of signal transduction in mammalian cells with potent immunosuppressor activity. We report here the characterization of a protein released into the culture medium by the infective stage of the protozoan intracellular parasite Trypanosoma cruzi. The protein possesses a peptidyl-prolyl cis-trans isomerase activity that is inhibited by FK506 and its non-immunosuppressing derivative L-685,818. The corresponding gene presents sequence homology with bacterial macrophage infectivity potentiators. The addition of the protein, produced heterologously in Escherichia coli, to cultures of trypomastigotes and simian epithelial or HeLa cells enhances invasion of the mammalian cells by the parasites. Antibodies raised in mice against the T.cruzi isomerase greatly reduce infectivity. A similar reduction of infectivity is obtained by addition to the cultures of FK506 and L-685,818. We concluded that the T.cruzi isomerase is involved in cell invasion.
To ascertain the incidence of aortic dissection, we retrospectively studied the data base of our hospital (Ospedale di Treviso-ULSS n 10). The population in the Treviso area is well defined as a geographic settlement and was sufficiently stable from a demographic point of view in the period examined (1976-1988). Patients were selected on the basis of established aortic dissection diagnosed by angiography, surgical inspection or autopsy. One hundred eighty-seven patients were included: 126 of them lived in the hospital-referring area (mean annual population of 239824 people in the study period). The calculated incidence of aortic dissection was 40.4 new cases/million inhabitants/year. This figure is consistently higher than that reported in the literature. The outcome of the study is discussed and data are compared with those of previously published papers.
To address the issues of variability and prognostic role of left ventricular dimensions in dilated cardiomyopathy (DCM), 144 patients with DCM were studied. They were arbitrarily assigned to two groups according to an echocardiographic left ventricular end-diastolic diameter index < or = 15% (45 patients with mildly dilated cardiomyopathy) and above 15% (99 patients with typically dilated cardiomyopathy) of the upper normality range. Among the patients with mildly dilated cardiomyopathy, there were more men (89% vs 66%; p < 0.01). This group of patients also had a greater prevalence of atrial fibrillation (22% vs 3%; p < 0.001) higher left ventricular fractional shortening (15 +/- 6% vs 13 +/- 5%; p < 0.05), higher ejection fraction (28 +/- 8% vs 24 +/- 8%; p < 0.01), and a lower exercise tolerance (5 +/- 2 MET vs 6 +/- 2 MET; p < 0.05). At the time of follow-up examination (30 +/- 15 months), event-free survival was not significantly different between patients with mildly dilated cardiomyopathy and those with typically dilated cardiomyopathy. Pulmonary capillary wedge pressure (p < 0.001) and left atrial dimension index (p < 0.01) were significant predictors of prognosis as determined by Cox multivariate analysis. Minimal or mild ventricular dilatation is not uncommon in DCM, and it identifies a heterogenous group of patients--some who are in the early stages of disease and others with severe pump dysfunction and persistently small hearts. Ventricular dilatation is not an independent predictor of prognosis.
The effect of platelet-poor plasma from patients with von Recklinghausen's disease (neurofibromatosis, NF) on the cell growth of cultured neurofibroma-derived fibroblast-like cells (NF fibroblast-like cells grown from explant cultures of cutaneous neurofibromas) was examined. Platelet-poor plasma and sera from nine NF patients and nine control individuals were examined. When comparing platelet-poor plasma from patients with NF with control individuals, the former stimulated the proliferation of fibroblast-like cells derived from neurofibromas, not that of normal fibroblasts.