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Biomedical subjects

C Marchese

Publications and source records attributed to C Marchese.

30 records · Page 2Linked to original sources
PubMed1992

Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa.

By screening patients with autosomal dominant retinitis pigmentosa for mutations in the rhodopsin gene, two deletions (8 bp and 1 bp) have been identified in exon 5; these deletions cause a shift in the reading frame. The predicted proteins should be radically altered with translation continuing past the normal stop signal and resulting in a rhodopsin molecule that is, respectively, 1 and 10 amino acids longer. The clinical phenotype of the patients is described and is compared with that associated with other mutations in the same region of the gene.

Adult↗
PubMed1992

Paraphenylenediamine, a contact allergen, induces oxidative stress and ICAM-1 expression in human keratinocytes.

In an investigation of the role of keratinocytes in the pre-immunological phase of contact allergy, we have studied the effect of paraphenylenediamine (PPD) on cell proliferation, membrane lipid peroxidation and the expression of the intercellular adhesion molecule 1 (ICAM-1). Because PPD undergoes rapid autoxidation in the culture medium, the effect of PPD-modified medium on keratinocyte proliferation and ICAM-1 expression was also examined. PPD at low concentrations (up to 10 micrograms/ml) and with low exposure times (0.5 h) enhanced keratinocyte proliferation, but at high concentrations and with longer exposure times resulted in cell stasis and toxicity. These effects and the enhanced membrane lipid peroxidation that was also observed can be ascribed to the production of superoxide and hydrogen peroxide by the autoxidation of PPD in the medium. At non-cytotoxic concentrations, PPD induced ICAM-1 expression on the keratinocytes. PPD-modified medium was also cytotoxic to the keratinocytes and induced ICAM-1 expression in non-cytotoxic concentrations. It appeared that superoxide and hydrogen peroxide were not responsible for the cytotoxicity. These results are consistent with the view that oxidative stress may be an essential part of the pre-immunological phase in the induction of allergic contact dermatitis.

Allergens↗
PubMed1990

Human keratinocyte growth factor activity on proliferation and differentiation of human keratinocytes: differentiation response distinguishes KGF from EGF family.

Human keratinocyte growth factor (KGF) is an epithelial cell specific mitogen which is secreted by normal stromal fibroblasts. In the present studies, we demonstrate that KGF is as potent as EGF in stimulating proliferation of primary or secondary human keratinocytes in tissue culture. Exposure of KGF- or EGF-stimulated keratinocytes to 1.0 mM calcium, an inducer of differentiation, led to cessation of cell growth. However, immunologic analysis of early and late markers of terminal differentiation, K1 and filaggrin, respectively, revealed striking differences in keratinocytes propagated in the presence of these growth factors. With KGF, the differentiation response was associated with expression of both markers whereas their appearance was retarded or blocked by EGF. TGF alpha, which also interacts with the EGF receptor, gave a similar response to that observed with EGF. These findings functionally distinguish KGF from the EGF family and support the role of KGF in the normal proliferation and differentiation of human epithelial cells.

Biomarkers↗
PubMed1990

Growth factor-regulated pathways in epithelial cell proliferation.

Investigations of the pathways regulating normal growth of epithelial cells have revealed the existence of two major growth-factor signaling cascades required for proliferation. One pathway is activated by IGF-1 or high insulin concentration. The other is triggered by EGF, TGF alpha, or members of the FGF family, including the recently discovered epithelial-cell-specific growth factor, designated keratinocyte growth factor (KGF). Its expression pattern in vivo suggests that KGF plays an important normal physiologic role as a stromal effector of epithelial cell proliferation. Oncogenes, which represent constitutively activated forms of genes critically involved in growth-factor signaling pathways, specifically abrogate the requirement for mitogens of the EGF pathway. Examples of such genes include the erbB/EGF receptor and erbB-2, which encode structurally related receptor proteins and are often amplified and/or overexpressed in epithelial malignancies. Employing reduced stringency hybridization with v-erbB as a probe, we recently identified a third member of this receptor family, designated erbB-3. cDNA cloning revealed a predicted 148-kD transmembrane polypeptide with structural features similar to those of the EGF receptor. Normal erbB-3 expression in keratinocytes and glandular epithelium suggests its physiologic role in these cell types. Moreover, markedly elevated erbB-3 mRNA levels in certain mammary tumor cell lines suggest that increased erbB-3 expression may also play a role in some human epithelial malignancies.

Animals↗
PubMed1988

A new childhood T-cell lymphoma established in nude mice and in vitro.

A T-lymphoma cell line was established from a lymph node biopsy of a boy currently alive in complete remission. Neoplastic cells from this biopsy did not grow in vitro, whereas they formed a progressively growing s.c. tumor in splenectomized and sublethally irradiated nude mice and became serially transplantable in splenectomized and sublethally irradiated nude mice with a stable latency time. After the fourth transplant, cells were stored in liquid nitrogen and referred to as ST-4 cells. ST-4 cells display a membrane phenotype and a karyotype similar to that of the biopsy cells. After thawing, ST-4 cells grow both in splenectomized and sublethally irradiated nude mice and in vitro. They do not secrete interferon or interleukin 2, do not have natural killer activity, and do not respond to mitogen or alloantigen stimulation. The stable features of these T-lymphoma cells and the availability of normal autologous lymphocytes from the patient make this in vivo system quite unique and of importance for studies in tumor immunotherapy.

Animals↗
PubMed1987

Non-mosaic isodicentric X-chromosome in a patient with secondary amenorrhea.

An isodicentric X-chromosome idic(X) (pter----q26.1::q26.1----pter) was found in lymphocytes and ovarian tissue of a 40-year-old female patient with secondary amenorrhea. No mosaicism was observed. The phenotype-karyotype correlation of our case and of previously described non-mosaic cases of idic(X) (q::q) with different breakpoints is discussed.

Adult↗
PubMed1987

[2 cases of arrhythmogenic dysplasia of the right ventricle of familial occurrence].

Cases of familial arrhythmogenic right ventricular dysplasia (ARVD) have been reported by many authors, and a genetic mechanism of transmission has been hypothesized. Both autosomal dominant and autosomal recessive mechanism of inheritance were suggest. We present a father and a daughter affected by arrhythmogenic right ventricular dysplasia, belonging to a family with many cases of sudden death. Both of them presented with an episode of ventricular tachycardia with left bundle branch block. The clinical diagnosis was made according to electrocardiographic, echocardiographic, angionuclear and hemodynamic criteria of ARVD. The familia analysis suggest an autosomal dominant mechanism of transmission.

Adolescent↗
PubMedDate not supplied

Cystic hygroma: prenatal diagnosis and genetic counselling.

Six cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were observed. In the latter case the family history suggested an autosomal recessive pattern of inheritance. In order to reach a definite diagnosis and give proper genetic counselling when a fetus is found to have cystic hygroma, a fetal karyotype as well as a family and reproductive history should be obtained.

Adult↗
PubMedDate not supplied

Association between multiple intestinal atresia and omphalocele: a case report.

Multiple intestinal atresia is a rare disorder with vascular or hereditary etiology. So far, the occurrence of this malformation along with omphalocele has not been reported. We describe a boy born from a nonconsanguineous gypsy couple with intrauterine growth retardation, omphalocele, and multiple intestinal atresia from the pylorus to the rectum. The microscopic examination of the intestine shows multiple small lumina with a sieve-like appearance. This is characteristic of the hereditary atresias and suggests development of a defect in (re)canalization during embryogenesis. The association with omphalocele indicates a common developmental defect may be present.

Hernia, Umbilical↗