bluuebunny/crossref_metadata_2025_split huggingface dataset:
Recessive hyperekplexia mutations of the glycine receptor α1 subunit affect cell surface integration and stability
Authors: Villmann Carmen , Oertel Jana , Melzer Nima , Becker Cord‐Michael 
Published: September 2009

AbstractThe human neurological disorder hyperekplexia is frequently caused by recessive and dominant mutations of the glycine receptor α1 subunit gene, GLRA1. Dominant forms are mostly attributed to amino acid substitutions within the ion pore or adjacent loops, resulting in altered channel properties. Here, the biogenesis of glycine receptor α1 subunit mutants underlying recessive forms of hyperekplexia was analyzed following recombinant expression in HEK293 cells. The α1 mutant S231R resulted in a decrease of surface integrated protein, consistent with reduced maximal current values. Decreased maximal currents shown for the recessive α1 mutant I244N were associated with protein instability, rather than decreased surface integration. The recessive mutants R252H and R392H encode exchanges of arginine residues delineating the intracellular faces of transmembrane domains. After expression, the mutant R252H was virtually absent from the cell surface, consistent with non‐functionality and the importance of the positive charge for membrane integration. Surface expression of R392H was highly reduced, resulting in residual chloride conductance. Independent of the site of the mutation within the α1 polypeptide, metabolic radiolabelling and pulse chase studies revealed a shorter half‐life of the full‐length α1 protein for all recessive mutants as compared to the wild‐type. Treatment with the proteasome blocker, lactacystin, significantly increased the accumulation of α1 mutants in intracellular membranes. These observations indicated that the recessive α1 mutants are recognized by the endoplasmatic reticulum control system, and degraded via the proteasome pathway. Thus, the lack of glycinergic inhibition associated with recessive hyperekplexia may be attributed to sequestration of mutant subunits within the endoplasmatic reticulum quality control system.
Protective effect of epigallocatechin gallate on the immune function of dendritic cells after ultraviolet B irradiation
Authors: Jin Song Liang , Zhou Bing Rong , Luo Dan 
Published: September 2009

SummaryAim  To investigate the protective effect of epigallocatechin gallate (EGCG) on the immune function of dendritic cells (DCs) after ultraviolet B irradiation (UVB) and its underlying mechanisms.Methods  The monocytes were isolated from peripheral blood and cultivated into DCs with cytokines, such as granulocyte‐macrophage colony‐stimulating factor (GM‐CSF) and interleukin (IL)‐4. DCs were harvested after cultivation for 7 days and subjected to irradiation with different dosages of UVB. Then, 200 μg/mL of EGCG was added in certain groups 24 h before irradiation. DCs simply treated with UVB or treated with both UVB and EGCG were co‐cultured with lymphocytes, and Mono‐nuclear cell direct cytotoxicity (MTT) assay was used to detect the ability of DCs to stimulate proliferation of lymphocytes. Surface markers CD80, CD86, human leukocyte antigen(locus)‐DR (HLA‐DR), and CD40 were detected using flow cytometry, and the levels of IL‐10 and IL‐12 secreted from DCs 24 h after cultivation were measured using ELISA.Results  UVB irradiation was able to inhibit the ability of DCs to stimulate the proliferation of lymphocytes and surface expressions of CD80, CD86, HLA‐DR, and CD40 on DCs in a dose‐dependent manner. The inhibition rate of DCs was improved to some extent after treatment with 200 μg/mL of EGCG. UVB showed no significant influence on the secretion of IL‐10 and IL‐12 from DCs, while EGCG was able to down‐regulate the secretion level of IL‐12 and up‐regulate that of IL‐10.Conclusions  EGCG can antagonize the inhibitory effect on DCs induced by UVB irradiation. This function has some relationship with its protecting effect of the expression of the costimulating molecules on the surface of DCs and the secretion level of IL‐10 and IL‐12.
Vulnerability of reactive skin to electric current perception – a pilot study implicating mast cells and the lymphatic microvasculature
Authors: Quatresooz Pascale , Piérard‐Franchimont Claudine , Piérard Gérald E 
Published: September 2009

SummaryBackground/objective  Sensitive/reactive skin is regarded as a manifestation of sensory irritation. This susceptibility condition to various exogenous factors suggests the intervention of some neuropeptides and other neurobiological mediators. Mast cells are among the putative implicated cells.Method  The present immunohistochemical and morphometric study was performed on two groups of 36 gender‐ and age‐matched subjects complaining or not from reactive skin as determined by electric current perception. In the mid upper part of the dermis, the numerical density in mast cells and the size of the microvasculature were assessed distinguishing the blood and lymphatic vessels.Results  Globally, the distributions of data were large in reactive skin. This condition was characterized by a prominent increase in both the numerical density in mast cells and the overall size of the lymphatics. By contrast, no difference was found in the size of cutaneous blood vessels. More precisely, it appeared that a subgroup of people with reactive skin exhibited these changes contrasting with some other individuals whose data remained close to the normal range.Conclusion  Mast cells and lymphatics are probably involved in the process of sensory irritation affecting a subgroup of the population.
Loose anagen hair syndrome: an unusual cause of alopecia of cosmetic importance only
Authors: Santiago Felicidade , Vieira Ricardo , Figueiredo Américo 
Published: September 2009

SummaryA 5‐year‐old girl was referred to our clinic because of a 5‐month history of diffuse hair loss. Her hair was light brown and dull with evident patches of alopecia. There were no signs of scalp inflammation or scarring. A hair pull test revealed multiple hairs, easily and painlessly extracted. Light microscopic examination and trichogram were consistent with loose anagen hair syndrome. This is an unusual benign hair disorder of childhood that improves spontaneously with aging.
Hypoxic conditioned culture medium from fibroblasts grown under embryonic‐like conditions supports healing following post‐laser resurfacing
Authors: Kellar Robert S , Hubka Mark , Rheins Lawrence A , Fisher Garth , Naughton Gail K 
Published: September 2009

SummaryObjectives  Treatment of facial skin perturbed by laser resurfacing with a novel, topical hypoxic conditioned culture medium (HCCM) product results in apparent, accelerated wound recovery time. The HCCM product is conditioned by neonatal fibroblasts under hypoxic conditions and used as the active ingredient in a formulated topical lotion. The HCCM contains significant quantities of growth factors such as vascular endothelial growth factor, keratinocyte growth factor, and interleukin‐8. As these molecules are known to play an important role in normal wound healing in vivo, we conducted a pilot clinical evaluation “Proof of Concept” in which individuals, after receiving laser resurfacing, were instructed to use either active or placebo lotion on their abraded skin.Methods  The end points used were clinical assessment of the time to complete healing, clinical and bioinstrumental mexameter measurements of erythema, and the number of days of rescue petrolatum use by patients, post‐laser.Results  Day 7, post‐laser treatment, resulted in a greater improvement in erythema, and re‐epithelization of the peri‐oral and peri‐ocular regions in subjects using the active lotion vs. placebo control as determined by blinded, clinical evaluation of gross photographs and bioinstrumental mexameter measurements. A statistically significant reduction in rescue petrolatum use in active lotion‐treated subjects was reported. Finally, no attendant cutaneous safety concerns (e.g., irritant/allergic dermatitis) were reported with either active or placebo lotion.Conclusions  This HCCM product may have broad applications within the field of skin wound repair.
Specific gel‐cream as adjuvant to oral isotretinoin improved hydration and prevented TEWL increase – a double‐blind, randomized, placebo‐controlled study
Authors: Herane María Isabel , Fuenzalida Héctor , Zegpi Emilia , De Pablo Carolina , Espadas Maria José , Trullás Carles , Mirada Alfons , Martin Guillermo González 
Published: September 2009

SummaryBackground  Hydrating and emollient products are often recommended to patients under isotretinoin therapy to control the most frequent mucocutaneous side effects and to improve adherence to treatment.Aims  To assess, using noninvasive biophysical tests, the clinical and instrumental effectiveness of a hydrating gel‐cream compared with placebo as an adjuvant to isotretinoin for treatment of facial skin in patients with inflammatory acne.Methods  Prospective, double‐blind, randomized study, using MULTI SKIN MC750, on the adjuvant effect of a hydrating gel‐cream for acne (active product) vs. a gel‐cream without active substances (placebo). Follow‐up lasted 3 months.Results  Sixty‐six patients were included. Thirty‐four were administered the active product, and 32 placebo. Though the number of lesions fell significantly in both groups, the mean number of papules on day 30 was significantly lower in the active product group. The active product group showed a significant increase in hydration, while the placebo group showed a significant increase in transepidermal water loss (TEWL). Seborrhoea decreased significantly in both groups; there were no differences between them.Conclusions  Compared with placebo, the specific gel‐cream with active products as an adjuvant to oral isotretinoin improved hydration, prevented TEWL increase, and reduced inflammatory acne lesions after 30 days.
Environmental impacts of the Norse settlement: palaeoenvironmental data from Myvatnssveit, northern Iceland
Authors: LAWSON IAN T. , GATHORNE‐HARDY FREDERICK J. , CHURCH MIKE J. , NEWTON ANTHONY J. , EDWARDS KEVIN J. , DUGMORE ANDREW J. , EINARSSON AARNI 
Published: September 2009

Lawson, I. T., Gathorne‐Hardy, F. J., Church, M. J., Newton, A. J., Edwards, K. J., Dugmore, A. J. & Einarsson, Á. 2007 (January): Environmental impacts of the Norse settlement: palaeoenvironmental data from Mývatnssveit, northern Iceland. Boreas, Vol. 36, pp. 1–19. Oslo. ISSN 0300–9483.The first stratigraphically continuous pollen profile spanning the Norse and Medieval periods from the archaeologically‐rich Mvatnssveit region of northern Iceland is presented. Detailed analyses were made of the tephra, sediment characteristics, pollen and chironomids of a 3 kyr sediment sequence from Helluvastjörn, a small, shallow lake. The pollen data show a steady decline in the percentage abundance of tree birch (Betula pubescens) pollen between the Norse settlement (landnám, c. AD 870) and c. AD 1300, a pattern that contrasts with the abrupt fall in birch pollen percentages immediately following the Norse colonization at almost all previously studied sites in Iceland. Some lines of evidence suggest that the gradual birch decline could be a result of reworking of soil pollen, but independent evidence suggests that this may not necessarily be the case. The pollen record indicates that birch woodland was replaced by acidophilic taxa (notably Empetrum nigrum and Sphagnum), again contrasting with the more usual pattern of Poaceae expansion seen in post‐landnám pollen diagrams from mires close to farm sites. Chironomid and Pediastrum accumulation data show that the limnic environment became more productive immediately after landnám, probably because of anthropogenic disturbance. An increase in sedimentation rate after landnám appears initially to have been caused by increased lake productivity, while reworked inorganic soil materials became a significant contributor to the sediments after c. AD 1200. The data suggest that the impact of settlement on terrestrial vegetation may have been more variable than previously thought, while freshwater ecosystems experienced significant and rapid change.
Peat multi‐proxy data from Männikjärve bog as indicators of late Holocene climate changes in Estonia
Authors: SILLASOO UULLE , MAUQUOY DMITRI , BLUNDELL ANTONY , CHARMAN DAN , BLAAUW MAARTEN , DANIELL JOHN R. G. , TOMS PHILLIP , NEWBERRY JULIA , CHAMBERS FRANK M. , KAROFELD EDGAR 
Published: September 2009

Sillasoo, Ü., Mauquoy, D., Blundell, A., Charman, D., Blaauw, M., Daniell, J. R. G., Toms, P., Newberry, J., Chambers, F M. & Karofeld, E. 2007 (January): Peat multi‐proxy data from Männikjärve bog as indicators of late Holocene climate changes in Estonia. Boreas, Vol. 36, pp. 20–37. Oslo. ISSN 0300–9483.As part of a wider project on European climate change over the past 4500 years, a 4.5‐m peat core was taken from a lawn microform on Männikjärve bog, Estonia. Several methods were used to yield proxy‐climate data: (i) a quadrat and leaf‐count method for plant macrofossil data, (ii) testate amoebae analysis, and (iii) colorimetric determination of peat humification. These data are provided with an exceptionally high resolution and precise chronology. Changes in bog surface wetness were inferred using Detrended Correspondence Analysis (DCA) and zonation of macrofossil data, particularly concerning the occurrence of Sphagnum balticum, and a transfer function for water‐table depth for testate amoebae data. Based on the results, periods of high bog surface wetness appear to have occurred at c. 3100,3010–2990,2300, 1750–1610, 1510, 1410, 1110, 540 and 310 cal. yr BP, during four longer periods between c. 3170 and 2850 cal. yr BP, 2450 and 2000 cal. yr BP, 1770 and 1530 cal. yr BP and in the period from 880 cal. yr BP until the present. In the period between 1770 and 1530 cal. yr BP, the extension or initiation of a hollow microtope occurred, which corresponds with other research results from Mannikjarve bog. This and other changes towards increasing bog surface wetness may be the responses to colder temperatures and the predominance of a more continental climate in the region, which favoured the development of bog micro‐depressions and a complex bog microtopography. Located in the border zone of oceanic and continental climatic sectors, in an area almost without land uplift, this study site may provide valuable information about changes in palaeohydrological and palaeoclimatological conditions in the northern parts of the eastern Baltic Sea region.
A stable isotope record from freshwater lake shells of the eastern Tibetan Plateau, China, during the past two centuries
Authors: WU JINGLU , SCHLESER GERHARD HANS , LÜCKE ANDREAS , LI SHIJIE 
Published: September 2009

Wu, J. L., Schleser, G. H., Lücke, A. & Li, S. 2007 (January): A stable isotope record from freshwater lake shells of the eastern Tibetan Plateau, China, during the past two centuries. Boreas, Vol. 36, pp. 38–46. Oslo. ISSN 0300–9483.Lake Xingcuo is a small, closed, hardwater lake situated in the eastern Tibetan Plateau. Stable isotope data (δ18O and δ13C) from the freshwater snail Gyraulus sibirica (Dunker) in a 34‐cm‐long, radioactive isotope‐dated sediment core represent the past 200 years of Lake Xingcuo environmental history. Carbon and oxygen isotope ratios in the shells of the snail yield information on the isotopic composition of the water in which the shell was formed, which in turn relates to climatic conditions prevailing during the snail's life‐span. Living and fossil shells from Lake Xingcuo were collected. δ18O values in the living shells from Lake Xingcuo are in equilibrium with ambient waters, while δ13C values may trace snail dietary carbon. On comparing δ18O and δ13C in the shell of Gyraulus sibirica with monitored data for the period 1954–1995, we found that the δ18O composition in the shell is an efficient proxy revealing air temperature during the warmer months from April to September. There is a positive correlation between the δ18O in the shells of Gyraulus sibirica and the running average temperature of the warmer months. Climatic variability in the eastern Tibetan Plateau for the past two centuries has been inferred from the δ18O record from the freshwater snails in the sediments of Lake Xingcuo. As such, the last 200 years' palaeoclimatic record for this region can be separated into three periods representing oscillations between warm and cool conditions consistent with the Guliya ice record in the Tibetan Plateau.
Dating early Holocene palaeoseismic event(s) in the Gulf of Bothnia, Baltic Sea
Authors: HUTRI KAISA‐LEENA , HEINSALU ATKO , KOTILAINEN AARNO T. , OJALA ANTTI E. K. 
Published: September 2009

Hutri, K.‐L., Heinsalu, A., Kotilainen, A. T. & Ojala, A. E. K. 2007 (January): Dating early Holocene palaeoseismic event(s) in the Gulf of Bothnia, Baltic Sea. Boreas, Vol. 36, pp. 56–64. Oslo. ISSN 0030–9483.Deformation structures in submarine Holocene sediments caused by palaeoseismicity have recently been found in the Olkiluoto area, Gulf of Bothnia, Baltic Sea, within old fracture zones of bedrock. In this study, the palaeoseismic event(s) was dated and the palaeoenvironment was characterized using palaeomagnetic, biostratigraphical and lithostratigraphical methods, thereby enhancing the reliability of the chronology. The variations in the inclination and declination of the Olkiluoto sediment core showed very good correlation with the palaeosecular variations recorded in the annually laminated long lake sediment record from Lake Nautajarvi in central Finland. Combined litho‐, bio‐ and palaeomagnetic stratigraphy revealed an age estimation of 10 650 to 10 200 cal. yr BP for the palaeoseismic event(s), which coincides with postglacial bedrock faulting in northern Fennoscandia.
Impact of Systematic Isolation of Superior Vena Cava in Addition to Pulmonary Vein Antrum Isolation on the Outcome of Paroxysmal, Persistent, and Permanent Atrial Fibrillation Ablation: Results from a Randomized Study
Authors: CORRADO ANDREA , BONSO ALDO , MADALOSSO MICHELA , ROSSILLO ANTONIO , THEMISTOCLAKIS SAKIS , DI BIASE LUIGI , NATALE ANDREA , RAVIELE ANTONIO 
Published: September 2009

Impact of the Systematic Isolation of the Superior Vena Cava. Background: Pulmonary veins (PVs) have been shown to represent the most frequent sites of ectopic beats initiating paroxysmal atrial fibrillation (AF). However, additional non‐PV triggers, arising from different areas, have been reported as well. One of the most common non‐PV sites described is the superior vena cava.
Aims:
The purpose of the study was to investigate the impact resulting from the systematic isolation of the superior vena cava (SVCI) in addition to pulmonary vein antrum isolation (PVAI) on the outcome of paroxysmal, persistent, and permanent AF ablation.
Methods:
A total of 320 consecutive patients who had been referred to our center in order to undergo a first attempt of AF ablation were randomized into 2 groups. Group I (160 patients) underwent PVAI only; Group II (160 patients) underwent PVAI and SVCI.
Results:
AF was paroxysmal in 134 (46%), persistent in 75 (23%), and permanent in 111 (31%) of said patients. SVCI was performed on 134 of the 160 patients (84%) in Group II. SVC isolation was not performed on the remaining 26 patients either because of phrenic nerve capture or the lack of SVC potentials. Comparison of the outcome data between the 2 groups, after a follow‐up of 12 months, revealed a significant difference in total procedural success solely with patients manifesting paroxysmal atrial fibrillation (56/73 [77%] Group I vs. 55/61 [90%] Group II; P = 0.04; OR 2.78).
Conclusions:
In our study, the strategy of the empiric SVCI in addition to PVAI has improved the outcome of AF ablation solely in patients manifesting paroxysmal AF. (J Cardiovasc Electrophysiol, Vol. 21, pp. 1–5, January 2010)
Slow Wall Motion Rather Than Electrical Conduction Delay Underlies Mechanical Dyssynchrony in Postinfarction Patients With Narrow QRS Complex
Authors: KLEMM HANNO U. , KRAUSE KORFF T. , VENTURA RODOLFO , SCHNEIDER CARSTEN , AYDIN MUHAMMAT A. , JOHNSEN CHRISTIN , BOCZOR SIGRID , MEINERTZ THOMAS , MORILLO CARLOS A. , KUCK KARL‐HEINZ 
Published: September 2009

Post‐MI Narrow QRS Dyssynchrony. Introduction: The mechanism of mechanical dyssynchrony in postinfarction patients with a narrow QRS complex is not defined but essential for cardiac resynchronization therapy (CRT).
Methods and Results:
Left ventricular electrical activation and subsequent wall motion were recorded for 16 patients with ischemic cardiomyopathy during intrinsic rhythm using a modified NOGA electromechanical mapping system. Ten patients presented mechanical dyssynchrony on tissue Doppler imaging, while 6 patients served as control subjects. The local activation time (LAT) was set by the maximum downslope of the unipolar electrogram. Local wall motion time (LMT) was defined as the time needed for the catheter tip to traverse half of its maximum inward deflection during systole. LAT and LMT were measured relative to the onset of the QRS complex. Electrical activation showed a septal‐to‐lateral pattern in all patients with a mean endocardial activation time of 65 ± 13 ms. Control subjects exhibited 97.5% of all LMTs <290 ± 17 ms. Delayed motion areas (cut‐off LMT > 300 ms) showed no slowing of conduction. Wall motion time corrected for differences in electrical activation (LMT‐LAT) was significantly longer in delayed (289 ± 34 ms) than in regular (204 ± 24 ms) motion areas (P = 0.002). Delayed motion segments were hypokinetic on echocardiography and presented a lower maximum inward motion (9.9 ± 1.1 mm) compared to regular segments (10.9 ± 1.2 mm) on electromechanical maps (P = 0.004). Viability, however, was preserved with unipolar and bipolar voltage amplitude >7 mV and >1.5 mV for 79% of all delayed motion areas.
Conclusion:
Dyssynchronous segments of an ischemic myocardium show unimpaired local activation but slow wall motion, thereby limiting the benefit of ventricular preexcitation via CRT. (J Cardiovasc Electrophysiol, Vol. 21, pp. 70–77, January 2010)
Reliability and Validity of the Emergency Severity Index for Pediatric Triage
Authors: Travers Debbie A. , Waller Anna E. , Katznelson Jessica , Agans Robert 
Published: September 2009

AbstractObjectives:  The Emergency Severity Index (ESI) triage algorithm is a five‐level triage acuity tool used by emergency department (ED) triage nurses to rate patients from Level 1 (most acute) to Level 5 (least acute). ESI has established reliability and validity in an all‐age population, but has not been well studied for pediatric triage. This study assessed the reliability and validity of the ESI for pediatric triage at five sites.Methods:  Interrater reliability was measured with weighted kappa for 40 written pediatric case scenarios and 100 actual patient triages at each of five research sites (independently rated by both a triage nurse and a research nurse). Validity was evaluated with a sample of 200 patients per site. The ESI ratings were compared with outcomes, including hospital admission, resource consumption, and ED length of stay.Results:  Interrater reliability was 0.77 (95% confidence interval [CI] = 0.76 to 0.78) for the scenarios (n = 155 nurses) and 0.57 (95% CI = 0.52 to 0.62) for actual patients (n = 498 patients). Inconsistencies in triage were noted for the most acute and least acute patients, as well as those less than 1 year of age and those with medical (rather than trauma) chief complaints. For the validity cohort (n = 1,173 patients), outcomes differed by ESI level, including hospital admission, which went from 83% for Level 1 patients to 0% for Level 5 (chi‐square, p < 0.0001). Nurses from dedicated pediatric EDs were 31% less likely to undertriage patients than nurses in general EDs (odds ratio [OR] = 0.31, 95% CI = 0.14 to 0.67).Conclusions:  Reliability of the ESI for pediatric triage is moderate. The ESI provides a valid stratification of pediatric patients into five distinct groups. We found several areas in which nurses have difficulty triaging pediatric patients consistently. The study results are being used to develop pediatric‐specific ESI educational materials to strengthen reliability and validity for pediatric triage.