bluuebunny/crossref_metadata_2025_split huggingface dataset:
Phenotypic variability in three families with valosin‐containing protein mutation
Authors: Spina S. , Van Laar A. D. , Murrell J. R. , Hamilton R. L. , Kofler J. K. , Epperson F. , Farlow M. R. , Lopez O. L. , Quinlan J. , DeKosky S. T. , Ghetti B. 
Published: August 2012

Background and purposeThe phenotype of IBMPFD [inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia (FTD)] associated with valosin‐containing protein (VCP) mutation is described in three families.MethodsProbands were identified based on a pathological diagnosis of frontotemporal lobar degeneration with TDP‐43‐positive inclusions type IV. VCP sequencing was carried out. Clinical data on affected family members were reviewed.ResultsOhio family: four subjects presented muscle weakness and wasting. (One subject had both neuropathic and myopathic findings and another subject showed only evidence of myopathy. The etiology of weakness could not be ascertained in the remaining two subjects.) Two individuals also showed Parkinsonism (with associated FTD in one of the two). The proband's brain displayed FTLD‐TDP type IV and Braak stage five Parkinson's disease (PD). A VCP R191Q mutation was found. Pennsylvania family: 11 subjects developed IBMPFD. Parkinsonism was noted in two mutation carriers, whilst another subject presented with primary progressive aphasia (PPA). A novel VCP T262A mutation was found. Indiana family: three subjects developed IBMPFD. FTD was diagnosed in two individuals and suspected in the third one who also displayed muscle weakness. A VCP R159C mutation was found.ConclusionsWe identified three families with IBMPFD associated with VCP mutations. Clinical and pathological PD was documented for the first time in members of two families. A novel T262A mutation was found. One individual had PPA: an uncommon presentation of IBMPFD.
Early infarct FLAIR hyperintensity is associated with increased hemorrhagic transformation after thrombolysis
Authors: Kufner A. , Galinovic I. , Brunecker P. , Cheng B. , Thomalla G. , Gerloff C. , Campbell B. C. V. , Nolte C. H. , Endres M. , Fiebach J. B. , Ebinger M. 
Published: August 2012

Background and purposeAbsence of FLAIR hyperintensity within an acute infarct is associated with stroke onset <4.5 h. However, some patients rapidly develop FLAIR hyperintensity within this timeframe. We hypothesized that development of early infarct FLAIR hyperintensity would predict hemorrhagic transformation (HT) in patients treated with tissue plasminogen activator (tPA) < 4.5 h after onset.MethodsConsecutive acute stroke patients treated with intravenous tPA <4.5 h after onset who had MRI before and 1 day after thrombolysis were included. Two raters (blind to HT) independently identified FLAIR hyperintensity with reference to the diffusion‐weighted image (DWI) lesion. HT was assessed using T2* MRI at 24 h. Hemorrhagic infarction (HI) was defined as petechial HT without mass effect, and parenchymal hematoma (PH) as HT with mass effect. Multivariable logistic regression analysis for HT included FLAIR status, baseline National Institutes of Health Stroke Scale and DWI lesion volume, leukoaraiosis (Wahlund score), serum glucose and reperfusion.ResultsOf 109 patients, 33 (30%) had acute FLAIR hyperintensity. HT occurred in 17 patients (15.6%; 15 HI, 2 PH). HT was more common in FLAIR‐positive patients than FLAIR‐negative patients (33.3% vs. 9.2%, P = 0.009). Median time‐to‐scan and median time‐to‐thrombolysis did not differ significantly between patients with HT and without [97 IQR(68, 155) vs. 90 IQR(73, 119), P = 0.5; 120 IQR(99, 185) vs. 125 IQR(95, 150), P = 0.6, respectively]. In multivariable analysis, only FLAIR hyperintensity was independently associated with HT after thrombolysis (OR 18; 95% CI 2–175, P = 0.013).ConclusionsEarly development of FLAIR hyperintensity within the area of diffusion restriction is associated with increased risk of HT after thrombolysis in acute stroke patients.
The flexibility of partial information transmission in the auditory channel: The role of perceptual discriminability
Authors: Gong Diankun , Ma Weiyi , Hu Jiehui , Hu Qingqing , Lai Yongxiu , Yao Dezhong 
Published: August 2012

AbstractA stimulus contains multiple attributes. Under certain circumstances, some information can be transmitted to the next cognitive stage before the processing of other information. An examination of partial information transmission is essential in improving our understanding of the mechanism of information processing. By manipulating two attributes, namely, pitch and intensity, this study examined whether the transmission speed of an attribute could be influenced by its perceptual discriminability. Using a choice go/no‐go paradigm, this study presented adults with two pieces of pure tones and measured their LRPs. Results showed that pitch and intensity were transmitted earlier as partial information in the high pitch‐ and intensity‐discriminability conditions, respectively. Thus, this study demonstrated that the transmission speed of a certain attribute could be modulated by its perceptual discriminability.
Pregnancy‐associated acquired haemophilia A: results from the European Acquired Haemophilia (EACH2) registry
Authors: Tengborn L , Baudo F , Huth‐Kühne A , Knoebl P , Lévesque H , Marco P , Pellegrini F , Nemes L , Collins P ,   on behalf of the EACH2 registry contributors
Published: August 2012

Please cite this paper as: Tengborn L, Baudo F, Huth‐Kühne A, Knoebl P, Lévesque H, Marco P, Pellegrini F, Nemes L, Collins P on behalf of the EACH2 registry contributors. Pregnancy‐associated acquired haemophilia A: results from the European Acquired Haemophilia (EACH2) registry. BJOG 2012;119:1529–1537.Objective  The European Acquired Haemophilia registry (EACH2) collected data on the demographics, diagnosis, underlying disorders, bleeding characteristics, treatment, and outcome of women with acquired haemophilia A (AHA), a rare and often severe bleeding disorder caused by autoantibodies directed against coagulation factor VIII.Design  Prospective, multi‐centre, large‐scale, pan‐European registry.Setting  A total of 117 haemophilia centres in 13 European countries.Population  Pregnancy‐associated AHA.Methods  Data were reported using a web‐based electronic case report form. Diagnosis was based on the presence of a prolonged activated partial thromboplastin time, reduced coagulation Factor VIII level and positive inhibitor assay.Main outcome measures  Presenting characteristics, time to diagnosis, haemostatic treatment and outcome, immunosuppressive treatment and outcome.Results  The EACH2 registry (n = 501) documented 42 (8.4%) cases of AHA associated with the peripartum period, a median Factor VIII level at diagnosis of 2.5 (range 0–25) IU/dl and inhibitor titre of 7.8 (range 0.7–348) BU/ml. Antepartum inhibitors were evident in eight women. Time to diagnosis of AHA after delivery was 89 (range 21–120) days. First‐line haemostatic treatment was successful in 20/23 (87%) women treated. Bleeding episodes resolved in 17/18 (94%) women treated with a bypassing agent and 29/39 (74%) women achieved complete remission with first‐line immunosuppressive treatment. Two babies experienced postnatal bleeding, suggesting transplacental transfer of the antibody. All women were alive at last follow‐up.Conclusions  Although rare, pregnancy‐associated AHA may cause severe bleeding‐related morbidity. Once diagnosed, women respond well to haemostatic treatment with bypassing agents and immunosuppression. Awareness of peripartum AHA requires improvement to facilitate rapid and appropriate management.
The risk of vesicovaginal and urethrovaginal fistula after hysterectomy performed in the English National Health Service—a retrospective cohort study examining patterns of care between 2000 and 2008
Authors: Hilton P , Cromwell DA 
Published: August 2012

Please cite this paper as: Hilton P, Cromwell D. The risk of vesicovaginal and urethrovaginal fistula after hysterectomy performed in the English National Health Service—a retrospective cohort study examining patterns of care between 2000 and 2008. BJOG 2012;119:1447–1454.Objective  To estimate rates of vesicovaginal and urethrovaginal fistula among women undergoing hysterectomy by indication and type of procedure, and to assess trends in risk over time.Design  Retrospective cohort using data from Hospital Episode Statistics.Setting  English National Health Service (NHS) hospitals.Population  Women undergoing hysterectomy for selected common conditions in English NHS hospitals between January 2000 and December 2008.Methods  Unadjusted rates of urogenital fistula were calculated by type of procedure and indication. Logistic regression was used to assess whether the risk of fistula was associated with age, or had changed over time.Main outcome measure  Rate of urogenital fistula (vesicovaginal and urethrovaginal fistula) within 1 year of hysterectomy.Results  Among 343 771 women undergoing hysterectomy, the overall rate of fistula was 1 in 788. The rate varied by indication and procedure, being highest following radical hysterectomy for cervical cancer (1 in 87; 95% CI 61–128) and lowest following vaginal hysterectomy for prolapse (1 in 3861; 95% CI 2550–6161). After total abdominal hysterectomy for endometriosis, menstrual problems or fibroids, the risk of fistula was lower in women aged 50 years or over than in women under 40 years (adjusted odds ratio 0.61; 95% CI 0.38–0.98). The overall rate of fistula increased by 46% during the study period.Conclusions  The risk of urogenital fistula was associated with type of hysterectomy and indication; the risk increased during the study period, and was lower after hysterectomy for benign conditions in women aged 50 years or over.
Evaluation of adjunctive perampanel in patients with refractory partial‐onset seizures: Results of randomized global phase III study 305
Authors: French Jacqueline A. , Krauss Gregory L. , Steinhoff Bernhard J. , Squillacote David , Yang Haichen , Kumar Dinesh , Laurenza Antonio 
Published: August 2012

SummaryPurpose:  To assess the efficacy and safety of once‐daily doses of perampanel 8 and 12 mg when added to 1–3 concomitantly administered, approved antiepileptic drugs (AEDs) in patients with uncontrolled partial‐onset seizures.Methods:  Study 305 was a multicenter, double‐blind, placebo‐controlled trial in patients aged 12 years and older with ongoing seizures despite prior therapy with at least two AEDs, and currently receiving 1–3 AEDs. Equal randomization to once‐daily oral perampanel 8 or 12 mg, or placebo was performed. Patients entered a 19‐week double‐blind treatment phase comprising a 6‐week titration period, with weekly 2‐mg dose increments, followed by a 13‐week maintenance period. Primary efficacy end points were the responder rate (proportion of patients who had a ≥50% reduction in seizure frequency during treatment per 28 days relative to baseline), and the percent change in seizure frequency per 28 days relative to pre‐perampanel baseline. A secondary end point was percent change in the frequency of complex partial plus secondarily generalized seizures. Adverse events (AEs) were monitored throughout the study.Key Findings:  Three hundred eighty‐six patients were randomized and treated with study medication. Of these, 321 patients completed the study. The 50% responder rates (intent‐to‐treat analysis) were 14.7%, 33.3%, and 33.9%, respectively, for placebo, perampanel 8 mg, and perampanel 12 mg, with significant improvements over placebo for both perampanel 8 mg (p = 0.002) and 12 mg (p < 0.001). The median percent change from baseline in seizure frequency per 28 days (intent‐to‐treat analysis) was −9.7%, −30.5%, and −17.6% for placebo, 8 mg, and 12 mg, respectively, with significant reductions compared with placebo for both 8 mg (p < 0.001) and 12 mg (p = 0.011). For complex partial seizures plus partial seizures that secondarily generalized, the median percent change in frequency was −32.7% (8 mg), −21.9 (12 mg), and −8.1% (placebo), with significant reductions for both 8 mg (p < 0.001) and 12 mg (p = 0.005). The most frequent (occurring in ≥10% of patients in any treatment group) treatment‐emergent AEs were dizziness, somnolence, fatigue, and headache, with an apparent dose effect suggested for all except headache.Significance:  This phase III trial demonstrated that adjunctive treatment with once‐daily perampanel at 8 mg and 12 mg was effective in improving seizure control in patients 12 years and older with refractory partial‐onset seizures. These study results also demonstrated that once‐daily doses of 8 mg and 12 mg were safe and acceptably tolerated in this study. Perampanel demonstrated a favorable risk/benefit ratio in this population.
Duration of untreated bipolar disorder: missed opportunities on the long road to optimal treatment
Authors: Drancourt N. , Etain B. , Lajnef M. , Henry C. , Raust A. , Cochet B. , Mathieu F. , Gard S. , MBailara K. , Zanouy L. , Kahn J. P. , Cohen R. F. , Wajsbrot‐Elgrabli O. , Leboyer M. , Scott J. , Bellivier F. 
Published: August 2012

Objective:  Duration of untreated illness represents a potentially modifiable component of any diagnosis‐treatment pathway. In bipolar disorder (BD), this concept has rarely been systematically defined or not been applied to large clinically representative samples.Method:  In a well‐characterized sample of 501 patients with BD, we estimated the duration of untreated bipolar disorder (DUB: the interval between the first major mood episode and first treatment with a mood stabilizer). Associations between DUB and clinical onset and the temporal sequence of key clinical milestones were examined.Results:  The mean DUB was 9.6 years (SD 9.7; median 6). The median DUB for those with a hypomanic onset (14.5 years) exceeded that for depressive (13 years) and manic onset (8 years). Early onset BD cases have the longest DUB (P < 0.0001). An extended DUB was associated with more mood episodes (P < 0.0001), more suicidal behaviour (P = 0.0003) and a trend towards greater lifetime mood instability (e.g. rapid cycling, possible antidepressant‐induced mania).Conclusion:  Duration of untreated bipolar disorder (DUB) will only be significantly reduced by more aggressive case finding strategies. Reliable diagnosis (especially for BD‐II) and/or instigation of recommended treatments is currently delayed by insufficient awareness of the early, polymorphous presentations of BD, lack of systematic screening and/or failure to follow established guidelines.
Deconstructing the familiality of variability in momentary negative and positive affect
Authors: Jacobs N. , Menne‐Lothmann C. , Derom C. , Thiery E. , van Os J. , Wichers M. 
Published: August 2012

Objective:  The daily life, affective phenotypes of momentary negative affect (NA), positive affect (PA) variability and NA variability are associated with future depressive symptomatology. This study investigates the extent to which genetic and environmental factors contribute to the inter‐individual differences in these daily life, affective phenotypes.Method:  Two hundred and seventy‐nine female twins from the Flemish (Belgium) general population participated in an experience sampling study measuring affect in daily life. Structural equation modelling was used to fit univariate and bivariate models.Results:  Genetic factors explained, respectively, 18%, 18% and 35% of the inter‐individual differences in momentary NA, PA variability and NA variability. Non‐shared environmental factors were found to explain the remaining inter‐individual variation. In addition, 41% of the association between positive and NA variability was attributed to shared genetic factors.Conclusion:  Results of this study show that daily life patterns of affective expression are subject to substantial environmental influence. Prospective assessments of the effect of interventions on these expressions may therefore represent a powerful tool to prevent transition from subclinical depressive symptomatology to a clinical outcome or to reduce symptomatology in those with clinical depression.
Determination of GHG and ammonia emissions from stored dairy cattle slurry by using a floating dynamic chamber
Authors: MINATO Keiko , KOUDA Yasuyuki , YAMAKAWA Masaaki , HARA Satoshi , TAMURA Tadashi , OSADA Takashi 
Published: August 2012

ABSTRACTWe developed a system for measuring emissions from stored slurry by using a floating dynamic chamber. CH4, CO2, N2O and NH3 emitted from the storage tank of a dairy cattle farm in eastern Hokkaido were measured during summer 2008 (7/16–8/6), fall 2008 (10/2–10/26), spring 2009 (6/2–6/21) and winter 2009 (3/11). Average daily gas emission rates in summer, fall and spring were, respectively, 54.8, 54.2 and 34.3 g/m2 for CH4; 602, 274 and 254 g/m2 for CO2; 55.4, 68.2 and trace mg/m2 for N2O; and 0.55, 0.73 and 0.46 g/m2 for NH3. CH4, CO2 and NH3 emission rates during the brief measurement period in winter were reduced to 1/4, 1/23 and 1/2, respectively, of summer emission rate levels. All gas emissions showed diurnal fluctuation and were greatest during the daytime, when the ambient temperature rose. CH4, NH3 and CO2 emissions increased significantly during the daytime, and the daily emission (in grams) of each gas was positively correlated with maximum daily temperature. According to the combined spring, summer and fall measurements, the CH4, N2O and NH3 annual emission factors were 1.42% (g CH4/g volatile solids), 0.02% (g N2O‐N/g total N) and 0.43% (g NH3‐N/g total N), respectively.
Anandamide Transforms Noncopulating Rats into Sexually Active Animals
Authors: Canseco-Alba Ana , Rodríguez-Manzo Gabriela 
Published: August 2012

ABSTRACT

Introduction
Noncopulating (NC) male rats are apparently normal and healthy animals that will not mate despite repeated exposure to sexually receptive females. Several lines of evidence suggest the involvement of endogenous opioids in this sexual inhibitory state. Endogenous opioids and endocannabinoids are neuromodulators of neurotransmitter release, although through different mechanisms.

Aim
To establish if the endocannabinoid anandamide was able to induce sexual behavior expression in male rats classified as noncopulators.

Methods
NC male rats were intraperitoneally (i.p.) injected with anandamide or vehicle and tested for copulatory behavior with a receptive female during 120 minutes. Fourteen days after anandamide or vehicle injection, the animals were subjected to a second sexual behavior test during 60 minutes.

Main Outcome Measures
The percentage of rats showing male sexual behavior responses: mount, intromission, ejaculation, and copulation resumption after ejaculation and the specific sexual behavior parameters were quantified.

Results
Anandamide injection induced sexual behavior expression in 50% of previously NC rats, while the NC animals injected with vehicle did not show sexual behavior. The responding animals executed several successive ejaculatory series and were still capable of showing sexual behavior 14 days after anandamide injection. Copulation in these rats (the first copulatory series) was characterized by a large number of mounts and intromissions preceding ejaculation, as well as by statistically significant increases in the latencies to mount, intromit, and ejaculate when compared with the sexual performance of sexually naïve animals copulating for the first time.

Conclusion
The endocannabinoid anandamide transforms previously NC rats into sexually active animals, capable of showing sexual behavior in a long-lasting manner. Only half of the NC population responds to anandamide injection, suggesting that different mechanisms underlie the sexual inhibition of NC rats. The endocannabinoid system seems to play a role in the regulation of male rat sexual behavior expression.
Laparoscopic spleen‐preserving distal pancreatectomy: A consecutive series at an experienced centre
Authors: Schloericke Erik , Zimmermann Markus , Roblick Uwe Johannes , Hildebrand Phillip , Hoffmann Martin , Jungbluth Thomas , Bader Franz Georg , Bruch Hans‐Peter , Buerk Conny Georg 
Published: August 2012

AimThe increasing experience within the area of laparoscopic procedures has paved the way for technically‐complex procedures, such as distal pancreatectomy. In order to avoid complications associated with concomitant splenectomy, these procedures are increasingly performed with spleen preservation. A drawback is the low number of cases, which does not allow for an evidence‐based comparison between laparoscopic and open procedures, and spleen‐preserving and concomitant splenectomy procedures.Patients and MethodsBetween 2006 and 2010, all data for patients who underwent a laparoscopic distal pancreatectomy (LDP) at the Department of Surgery, University of Schleswig‐Holstein, Luebeck, Germany, were collected are stored in a prospectively‐maintained database. Patients with tumours in the pancreatic tail and body that did not exceed the level of the portal vein were included in this database.ResultsA total of 22 patients who underwent LDP could be included in the evaluation. Ten of those patients underwent a laparoscopic spleen‐preserving distal pancreatectomy (LSPDP), while the remaining 12 received an LDP with splenectomy (LDPwS). The median operation time was 155 min (range: 98–253) for the LSPDP group, and 201 min (range: 60–310) for the LDPwS group (P = 0.06). The median hospital stay was 8.5 days (range: 5–23) in the LSPDP group compared to 11 days (range: 4–41) in the LDPwS group (P = 0.06). Pancreatic fistula occurred in two patients from each group. It caused an intraabdominal haemorrhage in one patient of the LSPDP group, which required re‐laparoscopy. Two patients experienced subphrenic abscesses in the LDPwS group and were treated interventionally. Histological examination revealed six cystadenomas and five pseudocysts (maximum diameter: 7 cm) in the LDPwS group, and six neuroendocrine tumours (maximum diameter: 2 cm) in the LSPDP group.ConclusionLDP can be performed safely. The optic magnification provided by laparoscopy facilitates LSPDP, as dissection of the splenic vessels can be avoided. Although not significant, there was a trend towards reduced hospital stay and operating time for LSPDP. Oncologic outcomes and morbidity seem to not be inferior to open procedures. The size of the tumours and the peripancreatic, as well as paraneoplastic, tissue alterations determine the indication for splenectomy.