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Biomedical subjects

A Mansouri

Publications and source records attributed to A Mansouri.

At least 73 records · Page 4Linked to original sources
PubMed1996

Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France.

DNA from 414 French blood donors from the Paris area was assessed for the A985G mutation responsible for most cases of autosomal recessive medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. The mutant gene frequency averaged 1/140, predicting a frequency of mutant homozygotes of 1/19 000. Discrepancy between the numbers of expected (42 per year) and recorded cases of MCAD (6 per year) suggests that most MCAD-deficient patients escape detection in France.

Acyl-CoA Dehydrogenase↗
PubMed1996

Pax genes and their roles in cell differentiation and development.

Members of the Pax gene family are expressed in various tissues during ontogenesis. Evidence for their crucial role in morphogenesis, organogenesis, cell differentiation and oncogenesis is provided by rodent mutants and human diseases. Additionally, recent experimental in vivo and in vitro approaches have led to the identification of molecules that interact with Pax proteins.

Animals↗
PubMed1996

Dentate gyrus formation requires Emx2.

Emx 1 and 2 are the murine homologues of the Drosophila empty spiracles gene and based on their expression pattern may be involved in the regional specification of the mammalian forebrain. During early embryogenesis, Emx2 is expressed in the presumptive cerebral cortex and olfactory bulbs and later, in the hippocampus proper and dentate gyrus. The latter are involved in memory processes. To understand the role of Emx2 in vivo, we have mutated the gene in mice. Homozygous embryos die postnatally because of severe urogenital alterations. These mice present cerebral hemispheres with a reduced size and exhibit specific morphological alterations in allocortical structures of the medial wall of the brain. The dentate gyrus is missing and the hippocampus proper is reduced. The medial limbic cortex is also severely shortened. The development of the dentate gyrus is affected at the onset of its formation with defects in the neuroepithelium from which it originates. These findings demonstrate that Emx2 is required for the development of several forebrain structures.

Animals↗
PubMed1996

Dysgenesis of cephalic neural crest derivatives in Pax7-/- mutant mice.

Pax7 is a member of the paired box containing gene family. Its expression pattern suggests a function in cephalic neural crest derivatives, skeletal muscle and central nervous system development. To understand the role of Pax7 during mouse embryogenesis, we used the homologous recombination technique in embryonic stem cells and generated Pax7-/- mice. Homozygous animals are born but die shortly afer weaning. They exhibit malformations in facial structures involving the maxilla and nose. Our analysis suggests that the observed phenotype is due to a cephalic neural crest defect. No obvious phenotype could be detected in the central nervous system and skeletal muscle. Functional redundancy between Pax7 and Pax3 is discussed.

Animals↗
PubMed1996

[Cerebral vascular accidents due to hydatid embolisms. Apropos of 2 cases].

Hydatid cysts of the brain are very rare. Exceptionally, signs and symptoms are primarily those of acute cerebral ischaemia. Two cases of acute cerebral ischaemia are reported in a 21 year old and 40 year old women. A computed tomographic scan revealed a middle cerebral artery (MCA) infarct and an abrupt cutoff of the MCA at cerebral angiography. A few months later, a CT scan showed cysts in the territory of the infarct. Hydatid cysts were also found in multiple viscera, particularly in the heart. These two observations and some cases reported in the literature suggested that the myocardial cyst may have ruptured into the ventricular cavity, resulting in widespread intravascular dissemination of embryo and causing an acute cerebral infarction. The interest of these cases lies in the rarity of an acute cerebral ischaemia due to hydatid cyst embolism, and in the early diagnosis of cardiac cysts in young patients.

Adult↗
PubMed1996

[The expression of Pax7 in C2C12 cell line and its inducible inactivation].

Pax7 is a member of mouse Pax gene family. It was expressed from day 8 to 17 p. c. during murine embryogenesis, mainly restricted to the central nerve systems. Additional Pax7 expression could be followed during myogenesis from the dermamyotome of the somites to the skeletal muscle tissues. For the first time, we demonstrated that Pax7 is expressed in mouse myoblast cell line, C2 C12. The expression of Pax7 was blocked when C2 C12 cells were induced to differentiate into myotube. Moreover, cells of mesodermal origin, in particular of the mouse embryo fibroblast cell line C3 H10 T1/2 which were especially permissive to the action of myogenic HLH proteins, did not express Pax7. These results suggest that Pax7 may be a suppressive factor for the myoblast differentiation of C2 C12 cells in vitro.

Animals↗
PubMed1995

Hepatic mitochondrial DNA deletion in alcoholics: association with microvesicular steatosis.

BACKGROUND/AIMS: Alcohol abuse may lead to microvesicular steatosis, a lesion ascribed to impaired mitochondrial function. Because alcohol abuse leads to reactive oxygen species in the hepatic mitochondria, it may damage mitochondrial DNA. The aim of this study was to look for the presence of the "common" 4977-base pair deletion in the hepatic mitochondrial DNA of alcoholic patients and age-matched, nonalcoholic controls. METHODS: Hepatic DNA was subjected to two polymerase chain reactions that amplified non-deleted and deleted mitochondrial DNA, respectively. RESULTS: The deletion was found in 6 of 10 alcoholics with microvesicular steatosis, 2 of 17 alcoholic patients with macrovacuolar steatosis, but in none of 12 patients with acute alcoholic hepatitis, 11 patients with alcoholic cirrhosis, or 62 nonalcoholic patients of comparable ages with various other liver diseases or normal liver histology. In all patients with the deletion, restriction fragments of deleted mitochondrial DNA co-migrated with those of reference Pearson bone marrow-pancreas syndrome patients with the common mitochondrial DNA deletion. CONCLUSIONS: The common deletion is frequent in the hepatic DNA of alcoholic patients with microvesicular steatosis. Alcohol-induced mitochondrial DNA damage may contribute to the occurrence of this lesion in some alcoholics.

Adult↗
PubMed1995

Targeted mutation of the murine goosecoid gene results in craniofacial defects and neonatal death.

The goosecoid gene encodes a homeodomain-containing protein that has been identified in a number of species and has been implicated in a variety of key developmental processes. Initially suggested to be involved in organizing the embryo during early development, goosecoid has since been demonstrated to be expressed during organogenesis-most notably in the head, the limbs and the ventrolateral body wall. To investigate the role of goosecoid in embryonic development, we have inactivated the gene by gene targeting to generate mice mutant for the goosecoid gene. Mice that are homozygous for the goosecoid mutation do not display a gastrulation phenotype and are born; however, they do not survive more than 24 hours. Analysis of the homozygotes revealed numerous developmental defects affecting those structures in which goosecoid is expressed during its second (late) phase of embryonic expression. Predominantly, these defects involve the lower mandible and its associated musculature including the tongue, the nasal cavity and the nasal pits, as well as the components of the inner ear (malleus, tympanic ring) and the external auditory meatus. Although the observed phenotype is in accordance with the late expression domains of goosecoid in wild-type embryos, we suggest that the lack of an earlier phenotype is the result of functional compensation by other genes.

Animals↗
PubMed1995

[Amniotic adhesions. A case report].

Amniotic adhesions occur in a wide variety of foetal malformations and can involve the limbs, the cranio-caudal region and the trunk. They usually occur after premature rupture of the aminos membranes. We report a case of amniotic adhesions diagnosed late at 37 weeks gestation.

Adult↗
PubMed1994

Anti-proliferative effects of deflazacort on Nb2 cells as quantitated by formazan production.

Prolactin and other lactogenic hormones are mitogenic for the rat T-cell lymphoma line, Nb2. Glucocorticoids have antiproliferative effects on these cells. A limiting feature of experiments utilizing the Nb2 line is their labor-intensive nature. We therefore adapted the commonly used MTT dye proliferation assay for the Nb2 cell line. While rPRL, hPRL, oPRL, hGH, bPL, and to a lesser extent bPRL stimulated the Nb2 cells, hormones without lactogenic activity, rGH and oGH did not. Human serum and rat sera from animals bearing a PRL-secreting tumor stimulated the Nb2 cells in parallel to standards. Glucocorticoids had anti-proliferative effects on Nb2 cells in the presence of half-maximal or maximal PRL doses, as measured by the MTT proliferation assay. It has been claimed that an oxazoline steroid, deflazacort, has anti-inflammatory effects in clinical studies with fewer of the deleterious side-effects common to glucocorticoids. We therefore compared the in vitro anti-proliferative effects of deflazacort with other glucocorticoids. Deflazacort's negative effect on Nb2 cell proliferation was similar to that of cortisol and prednisolone and less than that of dexamethasone. We conclude that the MTT proliferation assay can be used to study both mitogenic and anti-proliferative substances in Nb2 cells. In addition we found that deflazacort acts similarly in vitro to other glucocorticoids.

Animals↗
PubMed1994

Tumor drug-resistance: a challenge to therapists and biologists.

Cancer is the second largest cause of death after cardiovascular disease in the United States. Systemic chemotherapy is the major treatment modality for a number of common cancers, such as lymphomas, leukemias, and for the majority of disseminated tumors. The emergence of drug-resistant tumor cells is the major cause of subsequent cancer treatment failures. Overcoming drug resistance is a difficult problem that remains unresolved; results to date suggest that tumor drug-resistance will continue to be a major limitation to success with anticancer chemotherapy. Short term, a multi-disciplinary treatment of cancer (eg, via cancer centers) should seek to eradicate cancer effectively at the time of diagnosis, with encouragement of patients to participate in clinical trials (eg, adjuvant chemotherapy). Long-term goals for cancer management should include cancer prevention and early detection through intensive public education, incentives for participation in early detection programs, and continued research, with a focus on mechanisms of tumor drug-resistance.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
PubMed1994

Pax genes in development.

The Pax gene family consists of nine members encoding nuclear transcription factors. Their temporally and spatially restricted expression pattern during embryogenesis suggests that they may play a key role during embryogenesis. Direct evidence for the important role of the Pax genes during embryonic development has been demonstrated by the correlation of mouse developmental mutants and human syndromes with mutations in some Pax genes. To date three Pax genes have been shown to be mutated in undulated, Splotch and small eye, respectively. In man, Pax-3 is mutated in the Waardenburg syndrome, while in aniridia Pax-6 is mutated.

Animals↗
PubMed1993

Concise review: methemoglobinemia.

The ferrous iron of hemoglobin is exposed continuously to high concentrations of oxygen and, thereby, is oxidized slowly to methemoglobin, a protein unable to carry oxygen. To restore hemoglobin function, methemoglobin (ferrihemoglobin) must be reduced to hemoglobin (ferrohemoglobin). Under physiological conditions, methemoglobin reduction is accomplished mainly by red cell NADH-cytochrome b5 reductase (NADH-methemoglobin reductase) so efficiently that there is insignificant amounts of methemoglobin in the circulating blood. However, should methemoglobin formation be increased--e.g., due to the presence of oxidant drugs, or an abnormal methemoglobin not amenable to reduction (hemoglobin M), or a deficiency in red cell cytochrome b5 reductase--methemoglobinemia will result. Most methemoglobinemias have no adverse clinical consequences and need not be treated. Under certain conditions, such as exposure to large amounts of oxidant or in young infants, rapid treatment is necessary. In hereditary cytochrome b5 deficiency, treatment is often directed at improving the poor cosmetic effect of persistent cyanosis with the minimum amount of drugs to give satisfactory clinical results.

Hemoglobin M↗
PubMed1993

Pathogenic significance of interleukin-6 in angioimmunoblastic lymphadenopathy-type T-cell lymphoma.

Patients with angioimmunoblastic lymphadenopathy (AILD)-type T-cell lymphoma may develop hypergammaglobulinemia. Among four cases of AILD-type T-cell lymphoma that we have studied, we detected a correlation between the number of plasma cells in tissue and the extent of interleukin-6 (IL-6) expression in lymphoma cells. We did not detect IL-6 in three patients who had no hypergammaglobulinemia and whose tissues showed only minimal plasma cell infiltration. In the fourth patient we observed an abundant IL-6 production by lymphoma cells, which accounted for a B-cell plasmacytic tissue response and for hypergammaglobulinemia. The pathogenic significance of IL-6 was substantiated by a concomitant decrease in the serum IL-6 level, measurable tumor mass, and immunoglobulin levels, as well as by a decline in the proportion of plasmacytoid cells in peripheral blood promptly on administration of chemotherapy. Plasmacytoid B cells could be maintained in culture in the presence of IL-6, but viability was lost on co-incubation with anti-IL-6. Interleukin-1 and tumor necrosis factor were not produced by T lymphoma cells and were incapable of sustaining plasmacytoid B-cell viability in vitro. Small amounts of IL-4 were noted in T lymphoma cells. Thus, in this case of AILD-type T-cell lymphoma, tumor cells with a T-cell phenotype produced IL-6 in large quantities, explaining the accompanying B-cell and plasmacytic histologic changes and humoral disease manifestations, including marked hypergammaglobulinemia. Although not all cases of AILD-type T-cell lymphoma have an accompanying plasma cell proliferation and hypergammaglobulinemia, and although the cytokine network in these patients may be more complex than has been recognized, this case with IL-6 expression serves to illustrate the utility of cytokine assays in the analysis of the histopathologic and clinical heterogeneities of peripheral T-cell lymphomas.

Aged↗
PubMed1993

Primary non-Hodgkin's lymphoma of the central nervous system.

In the past few years, non-Hodgkin's lymphoma of the central nervous system has been the object of increasing attention because of the recent rise in its incidence. Part of this increase can clearly be attributed to the AIDS epidemic. This tumor responds unsatisfactorily to the traditional treatments. Various studies to determine the most effective treatment modality have yielded inconclusive results. A concise review of non-Hodgkin's lymphoma of the central nervous system is presented along with a case study of cerebellar non-Hodgkin's lymphoma.

Aged↗
PubMed1992

Anemia in the elderly patient.

Anemia is one of the most common disorders in elderly patients. The pathophysiology of anemia is the same in the young as well as the old. However, the common presence of multiorgan dysfunction or disease in elderly patients can alter the clinical presentation, response to treatment, and prognosis of anemia in this group.

Aging↗