Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.

Incontinentia Pigmenti (IP) is an X-linked genodermatosis that is lethal for males and present in females with abnormal skin pigmentation and high variable clinical signs, including retinal detachment, anodontia, alopecia, nail dystrophy and nervous system defects. The NF-kappaB essential modulator (NEMO) gene, responsible for IP, encodes the regulatory subunit of the IkappaB kinase (IKK) complex required for nuclear factor kappaB (NF-kappaB) activation. We analyzed the NEMO gene in 122 IP patients and identified mutations in 83 (36 familiar and 47 sporadic cases).

Crossover temperature of Bose-Einstein condensation in an atomic Fermi gas.

We show that in an atomic Fermi gas near a Feshbach resonance the crossover between a Bose-Einstein condensate of diatomic molecules and a Bose-Einstein condensate of Cooper pairs occurs at positive detuning, i.e., when the molecular energy level lies in the two-atom continuum.

Molecular Kondo resonance in atomic Fermi gases.

The usual Kondo effect is associated with the formation of a many-body ground state that contains a quantum-mechanical entanglement between a (localized) fermion and the free fermions. We show, however, that also a bosonic form of the Kondo effect can occur in degenerate atomic Fermi gases near a Feshbach resonance, if the energy of the diatomic molecular level associated with the Feshbach resonance approaches twice the Fermi energy of the atoms.

Dietary intake of hexachlorobenzene in Catalonia, Spain.

To assess the dietary intake of hexachlorobenzene (HCB) by the population of Catalonia, Spain, a total-diet study was carried out. Concentrations of HCB were determined in food samples randomly acquired in seven cities of Catalonia between June and August 2000. A total of 11 food groups were included in the study.

Transcriptome analysis of mouse stem cells and early embryos.

Understanding and harnessing cellular potency are fundamental in biology and are also critical to the future therapeutic use of stem cells. Transcriptome analysis of these pluripotent cells is a first step towards such goals. Starting with sources that include oocytes, blastocysts, and embryonic and adult stem cells, we obtained 249,200 high-quality EST sequences and clustered them with public sequences to produce an index of approximately 30,000 total mouse genes that includes 977 previously unidentified genes.

Polycyclic aromatic hydrocarbons in foods: human exposure through the diet in Catalonia, Spain.

The dietary intake of 16 polycyclic aromatic hydrocarbons (PAHs) (naphthalene, acenaphthylene, acenaphthene, fluorene, phenanthrene, anthracene, fluoranthene, pyrene, benz[a]anthracene, chrysene, benzo[b]fluoranthene, benzo[k]fluoranthene, benzo[a]pyrene, dibenz[a,h]anthracene, benzo[g,h,i]perylene, and indeno[1,2,3-c,d]pyrene) by the general population of Catalonia, Spain, was calculated. Concentrations of PAHs in food samples randomly acquired in seven cities of Catalonia from June to August 2000 were measured. Eleven food groups were included in the study.

Effects of cryopreservation and coculture with pancreatic ductal epithelial cells on insulin secretion from human pancreatic islets.

Long-term storage methods, such as cryopreservation and long-term in vitro culture, hinder the therapeutical application of pancreatic islet transplantation, because they decrease islet viability. Pancreatic ductal epithelial cells (DEC) are putative stem cells for islets, which may secrete specific factors supporting islet growth and function. Hence, we studied the effect of coculture with DEC on the viability of fresh and cryopreserved human pancreatic islets.

In vivo time-course of the angiogenic response induced by multiple myeloma plasma cells in the chick embryo chorioallantoic membrane.

In this study, we set out to make a fine characterization of the angiogenic response induced by plasma cells obtained from patients with active-multiple myeloma (MM), in comparison with cells obtained from patients with non-active MM and benign lesions such as monoclonal gammopathy of undetermined significance (MGUS), in the chick embryo chorioallantoic membrane (CAM) assay. To achieve this we investigated the time-course of the angiogenic response induced by gelatin sponges soaked in the cell suspensions and implanted on the CAM surface from day 8 to day 12 of incubation by evaluating the number of vessels, of the vessel bifurcation and the intervascular distance at 24, 48, 72 and 96 h after the implants. The results show that plasma cell suspensions obtained from patients with active MM induce a vasoproliferative response that was significantly higher than that induced by cell suspensions obtained from patients with non-active MM or with MGUS, which is also a function of the day of implantation.

Pathologic aspects of AIDS malignancies.

Since the emergence of the HIV pandemic, a close association between HIV infection and the development of a selected group of cancers has been acknowledged. The introduction of highly active antiretroviral therapy, however, has had a dramatic impact on the incidences of several AIDS-defining malignancies. This suggests the possibility of a direct and indirect role of HIV in HIV-related tumor genesis.

Interaction between HIV-1 Tat and pRb2/p130: a possible mechanism in the pathogenesis of AIDS-related neoplasms.

Tat protein is an early nonstructural protein necessary for virus replication, which is secreted by infected cells and taken up by uninfected cells. Extensive evidence indicates that Tat may be a cofactor in the development of AIDS-related neoplasms. The molecular mechanism underlying Tat's oncogenic activity may include deregulation of cellular genes.

Polychlorinated naphthalenes in foods: estimated dietary intake by the population of Catalonia, Spain.

Concentrations of polychlorinated naphthalenes (PCNs) were measured in foodstuffs randomly acquired in seven cities of Catalonia, Spain. A total of 108 samples, belonging to 11 food groups (vegetables, tubers, fruits, cereals, pulses, fish and shellfish, meat and meat products, eggs, milk, dairy products, and oils and fats), were analyzed by high-resolution gas chromatography/high-resolution mass spectrometry (HRGC/HRMS). The levels of tetra-, penta-, hexa-, and hepta-CNs, those of octachloronaphthalene, and the mean sum concentration of tetra-octa-CN were determined.

Burkitt's lymphoma: new insights into molecular pathogenesis.

The World Health Organisation classification reports three subcategories of Burkitt's lymphoma (BL)--endemic, non-endemic, and immunodeficiency associated--proposed to reflect the major clinical and genetic subtypes of this disease. These different types of BL have been reviewed and studied by immunohistochemistry and molecular methods. The results point out the heterogeneity of BL and suggest that AIDS related BL may have a different pathogenesis from that of classic BL.

Concentrations of arsenic, cadmium, mercury, and lead in common foods and estimated daily intake by children, adolescents, adults, and seniors of Catalonia, Spain.

This study was designed to estimate the dietary intake of arsenic (As), cadmium (Cd), mercury (Hg), and lead (Pb) by the general population of Catalonia, Spain. The concentrations of these elements were determined in food samples randomly acquired in seven cities of Catalonia between June and August 2000. A total of 11 food groups were included in the study.

Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion.

Familial incontinentia pigmenti (IP) is a rare X-linked dominant disorder that affects ectodermal tissues. Over 90% of IP carrier females have a recurrent genomic deletion of exons 4-10 of the NEMO (IKBKG-IKKgamma) gene, which encodes a regulatory component of the IkB kinase complex, required to activate the NF-kB pathway. In IP, mutations in NEMOlead to the complete loss of NF-kB activation creating a susceptibility to cellular apoptosis in response to TNF-alpha.

Missing expression of pRb2/p130 in human retinoblastomas is associated with reduced apoptosis and lesser differentiation.

Purpose: Although the retinoblastoma gene (RB/p105) has been intensely investigated as a prototype suppressor gene in humans, mutational data on the Rb family member pRb2/p130 (p130) has only recently been reported. A protective role against apoptosis has been suggested for pRb/p105, both in vitro and in vivo. However, only limited information is available on the role of pRb2/p130 in controlling apoptosis.

CDK9: from basal transcription to cancer and AIDS.

Cdk9 is a member of the Cdc2-like family of kinases. Its cyclin partners are members of the family of cyclin T (T1, T2a and T2b) and cyclin K. The Cdk9/cyclin T complexes appear to be involved in regulating several physiological processes.

Cdk9, a member of the cdc2-like family of kinases, binds to gp130, the receptor of the IL-6 family of cytokines.

Cdk9 is a member of the Cdc2-like family of kinases. It binds to members of the family of cyclin T (T1, T2a and T2b) and to cyclin K. The Cdk9/cyclin T complex appears to be involved in regulating several physiological processes.

Vasoactive intestinal peptide stimulation modulates the expression of Bcl-2 family members in the adrenal gland of the lizard Podarcis sicula.

The adrenal gland of the lizard Podarcis sicula is formed by a dorsal ribbon of chromaffin cells, generally defined as medullary tissue, arranged along a central part of steroidogenic cells considered as cortical tissue. These two tissues produce catecholamines and steroids as part of the hypothalamo-hypophyseal-adrenal gland axis. Recent studies have demonstrated that Podarcis sicula adrenal gland is not only under hypothalamo-hypophyseal axis control but that several peptides may influence the physiological activity of the gland; among these, vasoactive intestinal peptide is able to enhance strongly both catecholamine and steroid hormone production.

Expression of RB2/p130 tumor-suppressor gene in AIDS-related non-Hodgkin's lymphomas: implications for disease pathogenesis.

In this study we examined 21 cases of AIDS-related lymphomas for genomic organization and expression of RB2/p130 oncosuppressor gene and compared the results with the proliferative features of these neoplasms. We found no mutations in the RB2/p130 gene and unusually high percentages of cells expressing nuclear pRb2/p130 in tumors with a high proliferative activity, such as AIDS-related lymphomas. These findings might suggest that a molecular mechanism usually observed in viral-linked oncogenesis could be involved.

Activation of MyoD-dependent transcription by cdk9/cyclin T2.

Myogenic transcription is repressed in myoblasts by serum-activated cyclin-dependent kinases, such as cdk2 and cdk4. Serum withdrawal promotes muscle-specific gene expression at least in part by down-regulating the activity of these cdks. Unlike the other cdks, cdk9 is not serum- or cell cycle-regulated and is instead involved in the regulation of transcriptional elongation by phosphorylating the carboxyl-terminal domain (CTD) of RNA polymerase II.

Angiogenesis and anti-angiogenesis in neuroblastoma.

Angiogenesis is a biological process by which new capillaries are formed from pre-existing vessels. It occurs in physiological and pathological conditions, such as tumours, where a specific critical turning point is the transition from the avascular to the vascular phase. Tumour angiogenesis depends mainly on the release by neoplastic cells of growth factors specific for endothelial cells that able to stimulate the growth of the host's blood vessels.

Angiogenesis, angiogenic factor expression and hematological malignancies.

Solid tumor growth consists of an avascular and a subsequent vascular phase. Several studies have now shown that, as in solid tumors, angiogenesis also plays a critical role in the progression of hematological malignancies. Monoclonal gammopathy of undetermined significance (MGUS) and non-active to active multiple myeloma (MM) progress when plasma cells induce angiogenesis and this in turn promotes progression.

Role of hematopoietic growth factors in angiogenesis.

In early ontogeny, hematopoiesis is closely associated with angiogenesis. This article reviews recent studies of the effect of hematopoietic growth factors on several endothelial cell functions together with recent findings about angiogenesis and antiangiogenic therapies in hematopoietic malignancies such as leukemia, lymphoma and myeloma.