bluuebunny/crossref_metadata_2025_split huggingface dataset:
MODY type 2 P59S GCK mutant: founder effect in South of Italy
Authors: Delvecchio M , Ludovico O , Bellacchio E , Stallone R , Palladino T , Mastroianno S , Zelante L , Sacco M , Trischitta V , Carella M 
Published: February 2012

Delvecchio M, Ludovico O, Bellacchio E, Stallone R, Palladino T, Mastroianno S, Zelante L, Sacco M, Trischitta V, Carella M. MODY type 2 P59S GCK mutant: founder effect in South of Italy.Mutations in the glucokinase (GCK) gene are the most frequent cause of maturity onset diabetes of the young (MODY) in Italy. We evaluated GCK mutations in 32 unrelated patients younger than 18 years who had been diagnosed with MODY. Eleven different GCK heterozygous mutations were identified in 22 (68.7%) of the 32 probands. Nine mutations were missense and two were nonsense. Three of these mutations (E17X, P59S and E372X) have not been described previously and were shown to be associated with hyperglycaemia. Several prediction methods suggested that the E17X and E372X mutations result in a premature truncated protein and that the P59S mutation is pathogenic. This idea was further supported by evidence suggesting that Proline 59 is a highly conserved amino acid residue and that the P59S mutation does not appear to be present in non‐diabetic controls and in sequence variant databases. Furthermore, this mutation was found in six (27.3%) of the patients from the same geographical area, Gargano, pointing to the existence of a founder effect, which was confirmed by microsatellite analysis.
Management of intracranial hemorrhage in a child with a left ventricular assist device
Authors: Haque Raqeeb , Wojtasiewicz Teresa , Gerrah Rabin , Gilmore Lisa , Saiki Yoshikatsu , Chen Jonathan M. , Richmond Marc , Feldstein Neil A. , Anderson Richard C. E. 
Published: February 2012

Haque R, Wojtasiewicz T, Gerrah R, Gilmore L, Saiki Y, Chen JM, Richmond M, Feldstein NA, Anderson RCE. Management of intracranial hemorrhage in a child with a left ventricular assist device.Abstract:  Pediatric patients bridged to heart transplant with LVADs require chronic anticoagulation and are at increased risk of hemorrhagic complications, including intracranial hemorrhage. In this population, intracranial hemorrhage is often fatal. We report a case of successful management of a five‐yr‐old‐boy with DCM on an LVAD who developed a subdural hematoma. We initially chose medical management, weighing the patient’s high risk of thromboembolism from anticoagulation reversal against the risk of his chronic subdural hematoma. When head CT showed expansion of the hemorrhage with increasing midline shift, we chose prompt surgical evacuation of the hematoma with partial reversal of anticoagulation, given the increased risk of acute deterioration. The patient ultimately received an orthotopic heart transplant and was discharged with no permanent neurological complications. This represents a case of a pediatric patient on an LVAD who survived a potentially fatal subdural hematoma and was successfully bridged to cardiac transplantation.
Is day surgery safe? A Danish multicentre study of morbidity after 57,709 day surgery procedures
Authors: MAJHOLM B. , ENGBÆK J. , BARTHOLDY J. , OERDING H. , AHLBURG P. , ULRIK A.‐M. G. , BILL L. , LANGFRITS C. S. , MØLLER A. M. 
Published: February 2012

BackgroundDay surgery is expanding in several countries, and it is important to collect information about quality. The aim of this study was to assess morbidity and unanticipated hospital visits 0–30 days post‐operatively in a large cohort.MethodsWe prospectively recorded data from 57,709 day surgery procedures performed in eight day surgery centres over a 3‐year period. We cross‐checked with the National Patient Registry to identify complications 0–30 days post‐operatively, and registrations from The Danish Register of Cause of Death were requested. We retrieved the records of 1174 patients to assign a relation between secondary contact and day surgery.ResultsThe overall rate of return hospital visits was 1.21% [95% confidence interval (CI): 1.12–1.30%] caused by a wide range of diagnoses. No deaths were definitely related to day surgery. The return hospital visits were due to haemorrhage/haematoma 0.50% (95% CI: 0.44–0.56%), infection 0.44% (95% CI: 0.38–0 49%) and thromboembolic events 0.03%. Major morbidity was rare. The surgical procedures with the highest rate of complication were tonsillectomies 11.4%, surgically induced abortions 3.13% and inguinal hernia repairs 1.23%.ConclusionThis large‐scale Danish national study confirmed that day surgery is associated with a very low rate of return hospital visits. Despite the rapid expansion of day surgery, safety has been maintained, major morbidity being very rare, and no deaths being definitely related to day surgery.
The saphenous nerve and its relationship to the nerve to the vastus medialis in and around the adductor canal: an anatomical study
Authors: KAPOOR R. , ADHIKARY S. D. , SIEFRING C. , MCQUILLAN P. M. 
Published: February 2012

BackgroundRecently, ultrasound‐guided saphenous nerve blocks within and distal to the adductor canal have shown success. However, a potential side effect is an unintentional block of branches of the nerve to the vastus medialis resulting in undesired motor weakness.MethodsWe dissected 40 embalmed cadaver thighs to determine the course and relation of the saphenous nerve to the nerve to the vastus medialis. Measurements were taken between various landmarks, and descriptive statistics were used to present the collected data.ResultsIn 72.5% of specimens, the most distal visible branch of the nerve to the vastus medialis pierced the muscle proximal to the site where the saphenous nerve crosses the anterior surface of the superficial femoral artery to become medial to the vessel.ConclusionKnowledge of this anatomy may help establish a safe region in preventing motor blockade when performing saphenous nerve blocks.
Acrosin Activity Regulation by Protein Kinase C and Tyrosine Kinase in Bovine Sperm Acrosome Exocytosis Induced by Lysophosphatidylcholine
Authors: Pérez Aguirreburualde MS , Fernández S , Córdoba M 
Published: February 2012

ContentsAcrosin is an important proteolytic enzyme that is capable of hydrolysing the zona pellucida in bovine oocyte. Lysophosphatydic acid (LPA) derivated from lysophosphatidylcholine (LPC) is known to trigger the acrosome exocytosis. The present study was aimed at examining the acrosin activity variations in LPC‐induced acrosome exocytosis and its regulation by tyrosine kinase, protein kinase C (PKC) and voltage‐dependent calcium channels (VDCC) in spermatozoa previously capacitated with heparin or quercetin. The enzyme activities were spectrophotometrically measured using N‐α‐benzoyl‐DL‐arginine p‐nitroanilide as an acrosin‐specific substrate. The capacitation and acrosomal reaction were evaluated by chlorotetracycline assay, and the viability and acrosome integrity were evaluated by the trypan blue stain/differential interference contrast. It was observed that LPC induced acrosome exocytosis and increased the activity of acrosin in spermatozoa previously capacitated with heparin. In heparin/LPC‐treated samples, it was observed that the inhibition of tyrosine kinase and PKC blocked the acrosome exocytosis and the acrosin activity (p < 0.05). Under these conditions, in heparin‐capacitated spermatozoa, the LPC provokes an acrosin activity increase that is independent of calcium influx through VDCC Type L. In cryopreserved bovine spermatozoa, LPC might require modulation, mainly tyrosine kinase participation with respect to PKC activity to induce acrosome exocytosis and increase acrosin activity.
Gene Expression of ACTH, Glucocorticoid Receptors, 11βHSD Enzymes, LH‐, FSH‐, GH Receptors and Aromatase in Equine Epididymal and Testicular Tissue
Authors: Herrera‐Luna CV , Budik S , Aurich C 
Published: February 2012

ContentsGlucocorticoids (GCs) are important mediators of the stress response and have been implicated in the function and regulation of testicular functions in different species. In many tissues, intracellular glucocorticoid activity is controlled by either or both of the two known isoforms of 11β‐hydroxysteroid dehydrogenase (11βHSD) type 1 and 2, which interconvert active and inactive GCs. Little is known about the effects of stress on fertility in the equine species. The main objective of the present study was to investigate the expression of receptors for GCs and adrenocorticotropic hormone [ACTH, melanocortin 2 receptor (MC2R)] as well 11βHSD1 and 11βHSD2 in male equine epididymal and testicular tissue. In addition, expression of aromatase P‐450 and receptors for luteinizing hormone (LHR), follicle stimulating hormone (FSHR) and growth hormone (GHR) was studied. Reverse transcriptase PCR and quantitative real‐time PCR were performed in tissue from the epididymis (caput and cauda) and testes collected from nine healthy mature stallions (age 4–10 years). mRNA for ACTH and GC receptors as well as 11βHSD1 and ‐2 were found in epididymal and testicular tissue. Expression of the genes studied was always positive in testicular tissue, while it was inconsistent in epididymal tissue. Quantitative gene expression in relation to β‐actin and glyceraldehyde‐3‐phosphate dehydrogenase (GAPDH) was significantly correlated (R = 0.403, p < 0.001). Quantitative PCR in relation to β‐actin revealed significant differences in the gene expression of 11βHSD1, 11βHSD2, LHR, FSHR, MC2R and aromatase between tissue collected from caput epididymidis, cauda epididymidis and testicular parenchyma (p < 0.05). With GAPDH, differences between tissues were significant for 11βHSD1, 11βHSD2 and MC2R (p < 0.05) In addition, high concentrations of mRNA of aromatase and receptors of LH and FSH were found in testicular tissue, while a pronounced expression of GH receptor was present in epididymal tissue. The results support the hypothesis of an interaction between the pituitary‐adrenal axis and testicular function in the stallion.
Transumbilical laparoendoscopic single‐site surgery in urology
Authors: Humphrey John E , Canes David 
Published: February 2012

AbstractLaparoendoscopic single‐site surgery has seen a dramatic rise in the urological community. With the advent of new techniques and instrumentation, laparoendoscopic single‐site surgery has become more accessible for a wide variety of applications. The majority have been carried out through a transumbilical incision in order to effectively hide the scar within the umbilicus. Here, we review the history and clinical applications for transumbilical laparoendoscopic single‐site surgery within urology. The current scope is broad, and great strides have been made, but the overall benefit appears to be predominantly cosmetic. Diffusion of laparoendoscopic single‐site surgery techniques from tertiary referral centers to the community urologist remains unknown. This review demonstrates the feasibility of transumbilical laparoendoscopic single‐site surgery as shown in the urological literature.
Prevalence of moderate–severe pain in hospitalized children
Authors: Groenewald Cornelius B. , Rabbitts Jennifer A. , Schroeder Darrell R. , Harrison Tracy E. 
Published: February 2012

SummaryBackground:  Acute pain management in children is often inadequate. The prevalence of pain in hospitalized children in the US is unknown.Methods:  We reviewed clinical characteristics of all pediatric patients admitted to Mayo Eugenio Litta Children’s hospital during July 2009. Patients with moderate–severe pain were identified. For patients identified as having moderate–severe pain risk factors, analgesia regimens, and pain outcomes were reviewed.Results:  The prevalence of moderate–severe in‐hospital pain was 27% (95% C.I. 23% to 32%). Teenagers and infants experienced higher prevalence rates of moderate–severe pain (38% and 32% respectively) than children (17%, P < 0.001). In addition, patients admitted to medical services had much lower rates of moderate–severe pain (13%) than those admitted to surgical services (44%, P < 0.001). Regional anesthesia was used in eleven (7.2%) of the patients on surgical services. Acetaminophen was administered to 75% of patients with moderate–severe pain. Only 21% of these patients had nonsteroidal anti‐inflammatory drugs (NSAIDS) available. Opioids were given scheduled to 36% of patients with moderate–severe pain and as needed to another 40%. Fifty‐five percent of patients still had one or more episode of moderate–severe pain on the day following an initial diagnosis; however, this number decreased steadily over subsequent days. Eleven patients (13% of those diagnosed with moderate–severe pain) still had one or more episodes of daily moderate–severe pain by day four.Conclusions:  The prevalence of moderate–severe pain in hospitalized children remains high. Analgesia regimens may not be optimal. Underutilization of regional anesthesia techniques may have contributed to increased pain scores. A large proportion of children diagnosed with moderate–severe pain may have persistent clinically significant pain in subsequent days.
Functional convergence of microbes associated with temperate marine sponges
Authors: Ribes M. , Jiménez E. , Yahel G. , López‐Sendino P. , Diez B. , Massana R. , Sharp J. H. , Coma R. 
Published: February 2012

SummaryMost marine sponges establish a persistent association with a wide array of phylogenetically and physiologically diverse microbes. To date, the role of these symbiotic microbial communities in the metabolism and nutrient cycles of the sponge‐microbe consortium remains largely unknown. We identified and quantified the microbial communities associated with three common Mediterranean sponge species, Dysidea avara, Agelas oroides and Chondrosia reniformis (Demospongiae) that cohabitate coralligenous community. For each sponge we quantified the uptake and release of dissolved organic carbon (DOC) and nitrogen (DON), inorganic nitrogen and phosphate. Low microbial abundance and no evidence for DOC uptake or nitrification were found for D. avara. In contrast A. oroides and C. reniformis showed high microbial abundance (30% and 70% of their tissue occupied by microbes respectively) and both species exhibited high nitrification and high DOC and NH4+ uptake. Surprisingly, these unique metabolic pathways were mediated in each sponge species by a different, and host specific, microbial community. The functional convergence of microbial consortia found in these two sympatric sponge species, suggest that these metabolic processes may be of special relevance to the success of the holobiont.
Molecular phylogeny, larval case architecture, host–plant associations and classification of European Coleophoridae (Lepidoptera)
Authors: Bauer Franziska , Stübner Andreas , Neinhuis Christoph , Nuss Matthias 
Published: February 2012

Bauer, F., Stübner, A., Neinhuis, C. & Nuss, M. (2012). Molecular phylogeny, larval case architecture, host–plant associations and classification of European Coleophoridae (Lepidoptera). —Zoologica Scripta, 41, 248–265.Several attempts based on adult morphology have aimed at classifying the megadiverse Coleophoridae, either by defining species groups or by splitting the large genus Coleophora into many smaller genera. A previous cladistic analysis focussing on larvae suggests monophyly of some case type groups as well as host–plant associations with a preference for certain plant tissues and growth forms. Here, a first molecular phylogeny for Coleophoridae is presented to test these partly contradicting hypotheses. Bayesian statistics is applied to different partitioning strategies of a COI + wingless data set (1815 bp) for 105 European species, revealing eight monophyletic species groups. A broader defined Coleophora with internal groups is better supported than the division into many genera. GoniodomaZeller, 1849 syn. rev. and Metriotes Herrich‐Schäffer, 1853 syn. n. are nested within Coleophora Hübner, 1822. Seven species are transferred to Coleophora: C. auroguttella (Zeller, 1849) comb. rev., C. limoniella Stainton, 1884 comb. rev., C. millierella (Ragonot, 1882) comb. n., C. nemesi (Căpuşe, 1970) comb. n., C. sinica (Li & Zheng, 2002) comb. n. (from Goniodoma) as well as C. jaeckhi (Baldizzone, 1985) comb. n. and C. lutarea (Haworth, 1828) comb. n. (from Metriotes). None of the formerly suggested case types is synapomorphic for any of the recovered clades. In contrast, cases built from glossy silk that turns black or dark brown is synapomorphic for the vibicella group. Some clades have radiated on certain plant taxa along with a specialisation in specific tissues, for example, the clade containing the saturatella (leaf miners) and frischella (seed miners) groups is associated with Fabaceae, the albella group (seed miners) with Caryophyllales and the serpylletorum group (leaf miners) with Lamiaceae. Calculating an index of host specificity for all studied species confirms significant differences between seed and leaf feeders on herbaceous plants, but not between leaf feeders on herbaceous and woody plants.
The Phylogenetic Kantorovich–Rubinstein Metric for Environmental Sequence Samples
Authors: Evans Steven N. , Matsen Frederick A. 
Published: February 2012

SummaryIt is now common to survey microbial communities by sequencing nucleic acid material extracted in bulk from a given environment. Comparative methods are needed that indicate the extent to which two communities differ given data sets of this type. UniFrac, which gives a somewhat ad hoc phylogenetics-based distance between two communities, is one of the most commonly used tools for these analyses. We provide a foundation for such methods by establishing that, if we equate a metagenomic sample with its empirical distribution on a reference phylogenetic tree, then the weighted UniFrac distance between two samples is just the classical Kantorovich–Rubinstein, or earth mover’s, distance between the corresponding empirical distributions. We demonstrate that this Kantorovich–Rubinstein distance and extensions incorporating uncertainty in the sample locations can be written as a readily computable integral over the tree, we develop Lp Zolotarev-type generalizations of the metric, and we show how the p-value of the resulting natural permutation test of the null hypothesis ‘no difference between two communities’ can be approximated by using a Gaussian process functional. We relate the L2-case to an analysis-of-variance type of decomposition, finding that the distribution of its associated Gaussian functional is that of a computable linear combination of independent X12 random variables.
The relative frailty variance and shared frailty models
Authors: Paddy Farrington C. , Unkel Steffen , Anaya-Izquierdo Karim 
Published: February 2012

SummaryThe relative frailty variance among survivors provides a readily interpretable measure of how the heterogeneity of a population, as represented by a frailty model, evolves over time. We discuss the properties of the relative frailty variance, show that it characterizes frailty distributions and that, suitably rescaled, it may be used to compare patterns of dependence across models and data sets. In shared frailty models, the relative frailty variance is closely related to the cross-ratio function, which is estimable from bivariate survival data. We investigate the possible shapes of the relative frailty variance function for the purpose of model selection, and we review available frailty distribution families in this context. We introduce several new families with contrasting properties, including simple but flexible time varying frailty models. The benefits of the approach that we propose are illustrated with two applications to bivariate current status data obtained from serological surveys.
Language experience modulates weighting of acoustic cues for vowel perception: An event‐related potential study
Authors: Lipski Silvia C. , Escudero Paola , Benders Titia 
Published: February 2012

AbstractIn behavioral tasks, previous research has found that advanced Spanish learners ofDutch rely on duration cues to distinguishDutch vowels, whileDutch listeners rely on spectral cues. This study tested whether language‐specific cue weighting is reflected in preattentive processing. The mismatch negativity (MMN) ofDutch andSpanish participants was examined in response to spectral and duration cues inDutch vowels. TheMMNat frontal and mid sites was weaker and peaked later atFzforSpanish than forDutch listeners for the spectrally cued contrasts, whereas both groups responded similarly to the duration cue. In line with overt categorization behavior, theseMMNdata indicate that preattentive cue weighting depends on the listeners' language experience.
Retest reliability of event‐related potentials: Evidence from a variety of paradigms
Authors: Cassidy Sarah M. , Robertson Ian H. , O'Connell Redmond G. 
Published: February 2012

AbstractEvent‐related potentials (ERPs) offer unparalleled temporal sensitivity in tracing the distinct electrocortical processing stages enabling cognition and are frequently utilized in clinical and experimental investigations, yet few studies have investigated their retest reliability. We administered a battery of typical ERP paradigms to elicit a diverse range of components linked to distinct perceptual and cognitive processes (P1, N1, N170, P3a, P3b, error‐related negativity, error positivity, P400). Twenty‐five participants completed the battery on two occasions, 1 month apart. Analysis of component amplitudes indicated moderate‐to‐strong split‐half and strong test‐retest reliability. Peak latency reliability varied substantially across components and ranged from weak to strong. We confirm that a range of prominent ERPs provide highly stable neurophysiological indices of human cognitive function.
Sphingosine kinase: a key to solving the ‘French Paradox’?
Authors: Hengst Jeremy A , Yun Jong K 
Published: February 2012

A host of beneficial effects have been attributed to the red wine polyphenol, resveratrol. Foremost, among these are its anti‐cancer properties. Yet, the mechanism by which resveratrol achieves these effects are unknown. In this issueof the BJP, Lim et al. report that resveratrol and its higher order oligomers inhibit sphingosine kinase 1 (SphK1). SphK1 is a key regulator of sphingolipid metabolism and alterations of this key metabolic pathway have been linked to many hyperproliferative diseases. This study identifies a target for the action of resveratrol and its higher order oligomers and opens the door to evaluation of SphK1 as a target for chemo‐prevention of cancer.LINKED ARTICLEThis article is a commentary on Lim et al., pp. 1605–1616 of this issue. To view this paper visit http://dx.doi.org/10.1111/j.1476‐5381.2012.01862.x
Evaluation of a Public Health Nurse Visiting Program for Pregnant and Parenting Teens
Authors: Schaffer Marjorie A. , Goodhue Amy , Stennes Kaye , Lanigan Cheryl 
Published: February 2012

AbstractA visiting nurse agency created the Pregnant and Parenting Team Program, an innovative program for serving pregnant and parenting teen mothers to promote family and child health and family self‐sufficiency. Public health nurses (PHNs) provide home visits that offer social, emotional, educational, and health care support to pregnant and parenting teen mothers 19 years of age and younger and their children. Foundational program pillars include: (1) a trusting relationship between teen mothers and a PHN through home visits; (2) outreach and coordination with schools, hospital, clinics, and human service agencies; (3) a comprehensive and intensive maternal mental health curriculum; and (4) community support and caring through provision of essential items needed for success in parenting. Measures of program effectiveness included identification of pregnant and parenting adolescent mothers, birth outcomes, active enrollment in school, delay of repeat pregnancy, maternal‐infant bonding and attachment, use of community resources, and infant growth and development. Participants in the program were more likely to be enrolled in school and had better birth outcomes in comparison with nonparticipants. Outcome data collected from January 1, 2008 to July 23, 2010 demonstrated progress toward stated goals.