bluuebunny/crossref_metadata_2025_split huggingface dataset:
Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients
Authors: Khan Aysha H , Aban Muniba , Raza Jamal , ul Haq Naeem , Jabbar Abdul , Moatter Tariq 
Published: February 2011

Abstract

Background
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2). We studied the spectrum of mutations in CYP21A2 gene in a multi-ethnic population in Pakistan to explore the genetics of CAH.

Methods
A cross sectional study was conducted for the identification of mutations CYP21A2 and their phenotypic associations in CAH using ARMS-PCR assay.

Results
Overall, 29 patients were analyzed for nine different mutations. The group consisted of two major forms of CAH including 17 salt wasters and 12 simple virilizers. There were 14 phenotypic males and 15 females representing all the major ethnic groups of Pakistan. Parental consanguinity was reported in 65% cases and was equally distributed in the major ethnic groups. Among 58 chromosomes analyzed, mutations were identified in 45 (78.6%) chromosomes. The most frequent mutation was I2 splice (27%) followed by Ile173Asn (26%), Arg 357 Trp (19%), Gln319stop, 16% and Leu308InsT (12%), whereas Val282Leu was not observed in this study. Homozygosity was seen in 44% and heterozygosity in 34% cases. I2 splice mutation was found to be associated with SW in the homozygous. The Ile173Asn mutation was identified in both SW and SV forms. Moreover, Arg357Trp manifested SW in compound heterozygous state.

Conclusion
Our study showed that CAH exists in our population with ethnic difference in the prevalence of mutations examined.
Spatio-temporal analysis of mortality among children under the age of five in Manhiça (Mozambique) during the period 1997-2005
Authors: Escaramís Geòrgia , Carrasco Josep L , Aponte John J , Nhalungo Delino , Nhacolo Ariel , Alonso Pedro , Ascaso Carlos 
Published: February 2011

Abstract

Background
Reducing childhood mortality is the fourth goal of the Millennium Development Goals agreed at the United Nations Millennium Summit in September 2000. However, childhood mortality in developing countries remains high. Providing an accurate picture of space and time-trend variations in child mortality in a region might generate further ideas for health planning actions to achieve such a reduction. The purpose of this study was to examine the spatio-temporal variation for child mortality rates in Manhiça, a district within the Maputo province of southern rural Mozambique during the period 1997-2005 using a proper generalized linear mixed model.

Results
The results showed that childhood mortality in all the area was modified from year to year describing a convex time-trend but the spatial pattern described by the neighbourhood-specific underlying mortality rates did not change during the entire period from 1997 to 2005, where neighbourhoods with highest risks are situated in the peripheral side of the district. The spatial distribution, though more blurred here, was similar to the spatial distribution of child malaria incidence in the same area. The peak in mortality rates observed in 2001 could have been caused by the precipitation system that started in early February 2000, following which heavy rains flooded parts of Mozambique's southern provinces. However, the mortality rates at the end of the period returned to initial values.

Conclusions
The results of this study suggest that the health intervention programmes established in Manhiça to alleviate the effects of flooding on child mortality should cover a period of around five years and that special attention might be focused on eradicating malaria transmission. These outcomes also suggest the utility of suitably modelling space-time trend variations in a region when a point effect of an environmental factor affects all the study area.
In vivo observation of gold nanoparticles in the central nervous system of Blaberus discoidalis
Authors: Rocha Aracely , Zhou Yan , Kundu Subrata , González Jorge M , BradleighVinson S , Liang Hong 
Published: February 2011

Abstract

Background
Nanoparticles (NPs) are widely studied for biomedical applications. Understanding interactions between NPs and biomolecules or cells has yet to be achieved. Here we present a novel in vivo method to study interactions between NPs and the nervous system of the discoid or false dead-head roach, Blaberus discoidalis. The aims of this study were to present a new and effective method to observe NPs in vivo that opens the door to new methods of study to observe the interactions between NPs and biological systems and to present an inexpensive and easy-to-handle biological system.

Results
Negatively charged gold nanoparticles (nAuNPs) of 50 nm in diameter were injected into the central nervous system (CNS) of the insect. By using such a cost effective method, we were able to characterize nAuNPs and to analyze their interactions with a biological system. It showed that the charged particles affected the insect's locomotion. The nAuNPs affected the insect's behavior but had no major impacts on the life expectancy of the cockroach after two months of observation. This was apparently due to the encapsulation of nAuNPs inside the insect's brain. Based on cockroach's daily activity, we believed that the encapsulation occurred in the first 17 days.

Conclusions
The method proposed here is an inexpensive and reliable way of observing the response of biological systems to nanoparticles in-vivo. It opens new windows to further understand how nanoparticles affect neural communication by monitoring insect activity and locomotion.
Epidermal growth factor receptor mutation in combination with expression of MIG6 alters gefitinib sensitivity
Authors: Naruo Yoshimi , Nagashima Takeshi , Ushikoshi-Nakayama Ryoko , Saeki Yuko , Nakakuki Takashi , Naka Takashi , Tanaka Hiroshi , Tsai Shih-Feng , Okada-Hatakeyama Mariko 
Published: February 2011

Abstract

Background
Epidermal growth factor receptor (EGFR) signaling plays an important role in the regulation of cell proliferation, survival, metastasis, and invasion in various tumors. Earlier studies showed that the EGFR is frequently overexpressed in non-small-cell lung cancer (NSCLC) and EGFR mutations at specific amino acid residues in the kinase domain induce altered responsiveness to gefitinib, a small molecule EGFR tyrosine kinase inhibitor. However, the mechanism underlying the drug response modulated by EGFR mutation is still largely unknown. To elucidate drug response in EGFR signal transduction pathway in which complex dynamics of multiple molecules involved, a systematic approach is necessary. In this paper, we performed experimental and computational analyses to clarify the underlying mechanism of EGFR signaling and cell-specific gefitinib responsiveness in three H1299-derived NSCLC cell lines; H1299 wild type (H1299WT), H1299 with an overexpressed wild type EGFR (H1299EGFR-WT), and H1299 with an overexpressed mutant EGFR L858R (H1299L858R; gefitinib sensitive mutant).

Results
We predicted and experimentally verified that Mig6, which is a known negative regulator of EGFR and specifically expressed in H1299L858R cells, synergized with gefitinib to suppress cellular growth. Computational analyses indicated that this inhibitory effect is amplified at the phosphorylation/dephosphorylation steps of MEK and ERK.

Conclusions
Thus, we showed that L858R receptor mutation in combination with expression of its negative regulator, Mig6, alters signaling outcomes and results in variable drug sensitivity.
Ovarian cryopreservation after laparoscopic ovariectomy using the Endo-GIA stapling device and LAPRO-clip absorbable ligating clip in a woman: a case report
Authors: Roux Isabelle , Grynberg Michaël , Linehan Jenna , Messner Alexandra , Deffieux Xavier 
Published: February 2011

Abstract

Introduction
Several options are available for preserving fertility before cytotoxic treatment, including ovarian tissue cryopreservation. Most reported surgical techniques include electrocoagulation. Our hypothesis is that avoidance of electrocoagulation may decrease ovarian cortex injury during cryopreservation procedures.

Case presentation
We report a laparoscopic technique of whole-ovary removal without coagulation using Endo-GIA forceps and clips. Laparoscopic ovariectomy was performed for cryopreservation in a 37-year-old Caucasian woman with breast cancer and for whom chemotherapy was planned. The procedure was completed quickly and without complication. This Endo-GIA procedure was of short duration with a short period of ischemia before freezing.

Conclusion
Laparoscopic ovariectomy using the Endo-GIA stapling device procedure without coagulation may diminish ovary injury before ovarian cryopreservation.
Nuclear receptors from the ctenophore Mnemiopsis leidyi lack a zinc-finger DNA-binding domain: lineage-specific loss or ancestral condition in the emergence of the nuclear receptor superfamily?
Authors: Reitzel Adam M , Pang Kevin , Ryan Joseph F , Mullikin James C , Martindale Mark Q , Baxevanis Andreas D , Tarrant Ann M 
Published: February 2011

AbstractBackgroundNuclear receptors (NRs) are an ancient superfamily of metazoan transcription factors that play critical roles in regulation of reproduction, development, and energetic homeostasis. Although the evolutionary relationships among NRs are well-described in two prominent clades of animals (deuterostomes and protostomes), comparatively little information has been reported on the diversity of NRs in early diverging metazoans. Here, we identified NRs from the phylum Ctenophora and used a phylogenomic approach to explore the emergence of the NR superfamily in the animal kingdom. In addition, to gain insight into conserved or novel functions, we examined NR expression during ctenophore development.ResultsWe report the first described NRs from the phylum Ctenophora: two fromMnemiopsis leidyiand one fromPleurobrachia pileus. All ctenophore NRs contained a ligand-binding domain and grouped with NRs from the subfamily NR2A (HNF4). Surprisingly, all the ctenophore NRs lacked the highly conserved DNA-binding domain (DBD). NRs fromMnemiopsiswere expressed in different regions of developing ctenophores. One was broadly expressed in the endoderm during gastrulation. The second was initially expressed in the ectoderm during gastrulation, in regions corresponding to the future tentacles; subsequent expression was restricted to the apical organ. Phylogenetic analyses of NRs from ctenophores, sponges, cnidarians, and a placozoan support the hypothesis that expansion of the superfamily occurred in a step-wise fashion, with initial radiations in NR family 2, followed by representatives of NR families 3, 6, and 1/4 originating prior to the appearance of the bilaterian ancestor.ConclusionsOur study provides the first description of NRs from ctenophores, including the full complement fromMnemiopsis. Ctenophores have the least diverse NR complement of any animal phylum with representatives that cluster with only one subfamily (NR2A). Ctenophores and sponges have a similarly restricted NR complement supporting the hypothesis that the original NR wasHNF4-like and that these lineages are the first two branches from the animal tree. The absence of a zinc-finger DNA-binding domain in the two ctenophore species suggests two hypotheses: this domain may have been secondarily lost within the ctenophore lineage or, if ctenophores are the first branch off the animal tree, the original NR may have lacked the canonical DBD. Phylogenomic analyses and categorization of NRs from all four early diverging animal phyla compared with the complement from bilaterians suggest the rate of NR diversification prior to the cnidarian-bilaterian split was relatively modest, with independent radiations of several NR subfamilies within the cnidarian lineage.
Propranolol as a modulator of M2b monocytes in severely burned patients
Authors: Kobayashi Makiko , Jeschke Marc G , Asai Akira , Kogiso Mari , Yoshida Shohei , Herndon David N , Suzuki Fujio 
Published: February 2011

ABSTRACTA role of immunosuppressive M2 monocytes (IL-12–IL-10+) on the increased susceptibility of severely burned patients to various opportunistic pathogens has been described. Among M2 monocyte subpopulations, M2b monocytes (IL-17–CCL1+CXCL13–) are predominantly present in the peripheral blood of severely burned patients. In the present study, the rise and fall of M2b monocytes were examined in severely burned patients treated with propranolol. Catecholamine is known as an inducer of M2 monocytes, and propranolol is a competitive blocker of catecholamine binding to β-adrenergic receptors. Twenty-two children with 30% or more TBSA burn were enrolled in the study. Propranolol at a dose of 4 mg/kg/day was administered to these patients by feeding-tube or mouth. Burn patient monocytes exhibited weak bactericidal activity. IL-12 was produced by propranolol-treated patient monocytes after stimulation with Staphylococcus aureus antigen, and the production of IL-10, CCL1, CCL17, or CXCL13 by these monocytes was not demonstrated. These results indicate that a predominance of M2b monocytes in severely burned patients is intervened by the propranolol treatment. The increased susceptibility, to be associated with the appearance of M2b monocytes, of severely burned patients to opportunistic pathogens might be controlled by propranolol.
Reactive Oxygen Species (ROS) Play a Critical Role in the cAMP-Induced Activation of Ras and the Phosphorylation of ERK1/2 in Leydig Cells
Authors: Tai Ping , Ascoli Mario 
Published: February 2011

AbstractActivation of the LH receptor (LHR) in Leydig cells results in the phosphorylation of ERK1/2 by cAMP-dependent and cAMP-independent pathways. Here we examine the mechanisms by which cAMP stimulates ERK1/2 phosphorylation. We show that the stimulation of steroidogenesis is not necessary or sufficient to stimulate the phosphorylation of ERK1/2 but that other cAMP-dependent mitochondrial functions are involved. Using MA-10 cells as a model, we showed that cAMP analogs increase reactive oxygen species (ROS) formation and that an uncoupler of oxidative phosphorylation and a ROS scavenger prevent this increase. These two compounds also inhibit the increase in ERK1/2 phosphorylation provoked by cAMP analogs, thus suggesting that the cAMP-induced phosphorylation of ERK1/2 is mediated by mitochondrial ROS. In agreement with this hypothesis we also show that a reduction in glutathione levels, which alters the redox state of MA-10 cells, potentiates the effect of cAMP on ERK1/2 phosphorylation. Measurements of the dephosphorylation of ERK and the activation of Ras showed that the ROS scavenger prevents the cAMP-provoked activation of Ras and that cAMP, with or without a ROS scavenger, has little or no effect on the dephosphorylation of ERK. Lastly, we show that the uncoupler of oxidative phosphorylation and the ROS scavenger also prevent the ability of cAMP analogs to increase ERK1/2 phosphorylation in primary cultures of mouse Leydig cells. We conclude that, in Leydig cells, cAMP enhances the phosphorylation of ERK1/2 via a mitochondria-derived, ROS-dependent activation of Ras.
The use of dispersion-corrected DFT calculations to prevent an incorrect structure determination from powder data: the case of acetolone, C11H11N3O3
Authors: Brüning Jürgen , Alig Edith , van de Streek Jacco , Schmidt Martin U. 
Published: February 2011

AbstractThe crystal structure of acetolone (5-(acetoacetylamino)benzimidazolone, C11H11N3O3), was determined from X-ray powder data. Despite strong preferred orientation effects, the structure could be solved with real-space methods and refined by the Rietveld method using restraints. The resulting structure gave a good Rietveld fit with reasonable confidence values; the structure looked chemically sensible and passed all tests including a CSD check and thecheckCIFprocedure. But dispersion-corrected density functional theory (DFT) calculations revealed that this structure was actually wrong, and further work showed that the terminal acetyl group had to be rotated by 180°. The correct crystal structure led to a better Rietveld refinement with improvedR-values. This structure was confirmed by dispersion-corrected DFT calculations. The compound crystallises inP-1 with two molecules per unit cell. The molecules are connected by a 2-dimensional hydrogen bond network.
A műtőtől a mikroszkópig. A rendszerezett nyirokcsomóminták azonosításának új eszköze a ráksebészetben
Authors: Molnár F. Tamás , Horváth Örs Péter , Farkas László , Gerlinger Imre , Pajor László , Kelemen Dezső , Kalmár Nagy Károly , Tizedes György , Pavlovics Gábor , Bódis József , Gőcze Péter , Szekeres György 
Published: February 2011

Absztrakt
A modern onkológiai sebészetben elengedhetetlen a lokoregionális nyirokcsomók műtéti eltávolítása szövettani vizsgálatra stádiummeghatározás végett, mely a pTNM besorolás egyik feltétele is. Az egyes nyirokcsomók eltávolításának terápiás és/vagy prognosztikus értéke ellentmondásokkal teli, a protokollok pedig szervenként, szubspecialitásonként különböznek. Nemzetközi jelenség, hogy a műtéti területről a mikroszkópig vezető út számos csapdával terhes, az információvesztés veszélye nagy, melynek kiküszöbölése közös érdek. A felhasi, retroperitonealis (urológiai, nőgyógyászati), emlő- és nyaki dissectio során eltávolítandó nyirokcsomók azonosítására dolgoztunk ki egy közös elvű integrált rendszert, az adott régiók anatómiai jellegzetességeinek figyelembevételével.
Vékonybéltumor miatt végzett műtéteink osztályunk 3 éves anyagában
Authors: Varga Zsombor , Bálint András , Vitályos Tibor 
Published: February 2011

AbsztraktA vékonybélből kiinduló rosszindulatú daganatok igen ritkák, az összes rosszindulatú emésztőszervi daganat kevesebb, mint két százalékát teszik ki. Előfordulásuk gyakoribb coeliakiában (lymphoma), illetve egyes örökletes bélbetegségekben, mint Peutz–Jegher-szindróma, familiáris adenomatosus polyposis. A betegség legtöbbször tünetmentes, illetve az első panaszok megjelenésétől a diagnózis felállításáig rendszerint több hónap telik el. A rendelkezésre álló noninvazív, részlegesen invazív vizsgáló módszerek gyakran nem vezetnek megoldáshoz és műtéti exploratio során derül fény a betegségre. Cikkünkben az osztályunkon előforduló vékonybéltumorok előfordulásáról, kivizsgálásáról, műtéti ellátásáról írunk feldolgozva az elmúlt 3 év beteganyagát. Megjegyzendő, hogy mindegyik beteg intézetünk Sürgősségi Osztályán keresztül érkezett, tehát nem tervezett módon. A műtétet megelőző vizsgálatok csak a műtéti indikáció felállításában segítettek, pontos diagnózishoz egy esetben sem vezettek. A műtéteket sürgősséggel vagy halasztott sürgősséggel végeztük. Mindegyik esetben vékonybélresectio történt. Anyagunkban adenocarcinoma, non-Hodgkin-lymphoma, GIST fordult elő.
Malignus eredetű pericardialis folyadékgyülemek ellátása parasternalis fenestratióval
Authors: Tóth Imre , Hanyik János , Almássy Sándor , Gyáni Károly , Mezei Péter , Szűcs Géza 
Published: February 2011

AbsztraktA pericardialis folyadékgyülem okozta szívtamponád megszüntetésére számos módszer áll rendelkezésünkre. A malignus eredetű pericardialis folyadékgyülemek hosszú távú megoldására ezek csak korlátozottan alkalmasak. Újabb módszerek bevezetésére, minimálisan invazív beavatkozások elvégzésére vonatkozóan vannak útkeresések, ezek közül jelenleg a VATS technika terjedt el. Ez speciális eszközöket igényel és a műtét során egytüdős lélegeztetést, amire a tumoros beteg nem mindig alkalmas. Gyakorlatunkban a Stemmer-féle parasternalis mediastinoscopia behatolási módjának felhasználásával egy új, egyszerű, minimálisan invazív és tartós recidívamentességet biztosító fenestratiós módszert alkalmazunk. Osztályunkon 10 év alatt 73 beteget láttunk el pericardialis folyadékgyülem miatt, és eddig 22 esetben végeztünk parasternalis pericardium-fenestratiót. A módszert malignus eredetű pericardialis folyadékgyülemek definitív ellátásához ajánljuk.
Selection for Dry Bean Yield On‐Station Versus On‐Farm Conventional and Organic Production Systems
Authors: Singh Shree P. , Terán Henry , Lema Margarita , Hayes Richard 
Published: February 2011

ABSTRACTHigh yielding cultivars adapted to conventional and organic production system would maximize efficiency of nutrient usage and reduce dependence on pesticides. The objective of this study was to determine if separate breeding efforts are needed to obtain high yielding dry bean breeding lines for on‐farm organic (FO) and on‐farm conventional (FC) production systems. The six highest yielding breeding lines selected from each of FO, FC, and on‐station conventional (SC) production systems in two populations (1WS, 2WS) and their parents were evaluated for days to maturity, 100‐seed weight, and seed yield in 2007 and 2008. The production system and genotype effects were significant (P ≤ 0.01) for all three traits. Seed yield gains were between 10.5% in FC and 15.0% in SC in 1WS and between 6.2% in FO and 21.0% in SC in 2WS. Seed yield of breeding lines selected in SC was higher than those selected in FC and FO when tested across the three production systems. The SC seed yield was positively associated with seed yield in FC and FO in 2WS and with seed yield in FC in 1WS. The FC and FO seed yields were positively associated only in 2WS. The highest yielding breeding lines within and across the three PS varied by the production system in which they were selected. Thus, breeding high yielding cultivars in SC or FC may serve FO in some populations, whereas a separate breeding for FO and FC may be justified in other populations if the accompanying seed yield gains would off‐set the added costs involved in the production system specific breeding.
Marker Development and Quantitative Trait Loci in a Fall‐Sown Oat Recombinant Inbred Population
Authors: Maloney P. V. , Lyerly J. H. , Wooten D. R. , Anderson J. M. , Livingston D. P. , Brown‐Guedira G. , Marshall D. , Murphy J. P. 
Published: February 2011

ABSTRACTMarker‐assisted selection for improved winter survival in oat (Avena sativa L.) is difficult because the number of simple sequence repeat (SSR) markers available in this species is limited. The objectives of this research were to increase the number of SSR markers on the ‘Fulghum’ × ‘Norline’ recombinant inbred population genetic map and to scan for quantitative trait loci (QTL) associated with winter field survival, crown freezing tolerance, vernalization response, and heading date. New SSR markers were developed from ‘Kanota’ and ‘Ogle’ genomic DNA libraries enriched for eight microsatellite motifs. New primers were evaluated for amplification, reproducibility, and polymorphism in 11 oat lines. Simple sequence repeat markers showing high‐quality polymorphism between Fulghum and Norline were subsequently examined in 128 recombinant inbred lines. Sixty‐five new SSR, four single nucleotide polymorphism (SNP), and one cleaved amplified polymorphic sequence (CAPS) markers were added to the Fulghum × Norline linkage map. This brought the total number of markers mapped on the population to 101. Phenotypic data for winter hardiness component traits in the population were obtained in previous field and controlled chamber experiments. All previously mapped markers and new SSR markers were evaluated and QTL identified. Marker loci on linkage group FN1_3_38 accounted for multiple QTL associated with winter hardiness component traits. The addition of new SSR markers to the Fulghum × Norline map in regions with winter hardiness component trait QTL will enhance marker assisted selection for these important traits.