bluuebunny/crossref_metadata_2025 huggingface dataset:
Associations of genetic variants in/near body mass index‐associated genes with type 2 diabetes: a systematic meta‐analysis
Authors: Xi Bo , Takeuchi Fumihiko , Meirhaeghe Aline , Kato Norihiro , Chambers John C. , Morris Andrew P. , Cho Yoon Shin , Zhang Weihua , Mohlke Karen L. , Kooner Jaspal S. , Shu Xiao Ou , Pan Hongwei , Tai E Shyong , Pan Haiyan , Wu Jer‐Yuarn , Zhou Donghao , Chandak Giriraj R. ,   DIAGRAM Consortium,   AGEN‐T2D Consortium,   SAT2D Consortium
Published: February 2014

Objective

Genome‐wide association studies have identified many obesity/body mass index (BMI)‐associated loci in Europeans and East Asians. Since then, a large number of studies have investigated the role of BMI‐associated loci in the development of type 2 diabetes (T2D). However, the results have been inconsistent. The objective of this study was to investigate the associations of eleven obesity/BMI loci with T2D risk and explore how BMI influences this risk.

Methods

We retrieved published literature from PubMed and Embase. The pooled odds ratios (OR) with 95% confidence intervals (CI) were calculated using fixed‐ or random‐effect models.

Results

In the meta‐analysis of 42 studies for 11 obesity/BMI‐associated loci, we observed a statistically significant association of the FTO rs9939609 polymorphism (66 425 T2D cases/239 689 normoglycaemic subjects; P = 1·00 × 10−41) and six other variants with T2D risk (17 915 T2D cases/27 531 normoglycaemic individuals: n = 40 629–130 001; all P < 0·001 for SH2B1 rs7498665, FAIM2 rs7138803, TMEM18 rs7561317, GNPDA2 rs10938397, BDNF rs925946 and NEGR1 rs2568958). After adjustment for BMI, the association remained statistically significant for four of the seven variants (all P < 0·05 for FTO rs9939609, SH2B1 rs7498665, FAIM2 rs7138803, GNPDA2 rs10938397). Subgroup analysis by ethnicity demonstrated similar results.

Conclusions

This meta‐analysis indicates that several BMI‐associated variants are significantly associated with T2D risk. Some variants increase the T2D risk independent of obesity, while others mediate this risk through obesity.
Recurrent mutations of BRCA1 and BRCA2 in Poland: an update
Authors: Szwiec M. , Jakubowska A. , Górski B. , Huzarski T. , Tomiczek‐Szwiec J. , Gronwald J. , Dębniak T. , Byrski T. , Kluźniak W. , Wokołorczyk D. , Birkenfeld B. , Akbari M.R. , Narod S.A. , Lubiński J. , Cybulski C.
Published: February 2014

Three founder alleles of BRCA1 (C61G, 4153delA, 5382insC) were reported in Poland in 2000, and these three mutations have comprised the standard testing panel used throughout the country. However, since 2000, other recurrent mutations of BRCA1 and BRCA2 have been reported. To establish if the inclusion of one or more of these mutations will increase the sensitivity of the standard test panel, we studied 1164 Polish women with unselected breast cancer diagnosed at age of 50 or below. All women were genotyped for 12 recurrent mutations of BRCA1 and BRCA2. We identified a mutation in 83 of 1164 patients (7.1%) including 61 women with one of the original three mutations (C61G, 4153delA, 5382insC) and 22 women with a different mutation (1.9%). Three new mutations (3819del5, 185delAG and 5370C>T) were seen in multiple families. By including these three mutations in the extended panel, the mutant frequency increased from 5.2 to 6.7%. Polish women with breast cancer diagnosed at age of 50 or below should be screened with a panel of six founder mutations of BRCA1 (C61G, 4153delA, 5382insC, 3819del5, 185delAG and 5370C>T).
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller‐Gerold syndromes
Authors: Piard J. , Aral B. , Vabres P. , Holder‐Espinasse M. , Mégarbané A. , Gauthier S. , Capra V. , Pierquin G. , Callier P. , Baumann C. , Pasquier L. , Baujat G. , Martorell L. , Rodriguez A. , Brady A. F. , Boralevi F. , González‐Enseñat M. A. , Rio M. , Bodemer C. , Philip N. , Cordier M.‐P. , Goldenberg A. , Demeer B. , Wright M. , Blair E. , Puzenat E. , Parent P. , Sznajer Y. , Francannet C. , DiDonato N. , Boute O. , Barlogis V. , Moldovan O. , Bessis D. , Coubes C. , Tardieu M. , Cormier‐Daire V. , Sousa A. B. , Franques J. , Toutain A. , Tajir M. , Elalaoui S. C. , Geneviève D. , Thevenon J. , Courcet J.‐B. , Rivière J.‐B. , Collet C. , Gigot N. , Faivre L. , Thauvin‐Robinet C.
Published: February 2014

Three overlapping conditions, namely Rothmund–Thomson (RTS), Baller‐Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a different diagnosis in 7/17 negative cases, including Clericuzio‐type poikiloderma with neutropenia, hereditary sclerosing poikiloderma, and craniosynostosis/anal anomalies/porokeratosis. No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype. One chromosomal abnormality and one TWIST mutation was found in this cohort. This study highlights the search for differential diagnoses before the prescription of RECQL4 sequencing in this clinically heterogeneous group. The combination of clinically defined subgroups and next‐generation sequencing will hopefully bring to light new molecular bases of syndromes with poikiloderma, as well as BGS without poikiloderma.
Evacuation proctography: a reappraisal of normal variability
Authors: Palit S. , Bhan C. , Lunniss P. J. , Boyle D. J. , Gladman M. A. , Knowles C. H. , Scott S. M.
Published: February 2014

Aim

Interpretation of evacuation proctography (EP) images is reliant on robust normative data. Previous studies of EP in asymptomatic subjects have been methodologically limited. The aim of this study was to provide parameters of normality for both genders using EP.

Method

Evacuation proctography was prospectively performed on 46 healthy volunteers (28 women). Proctograms were independently analysed by two reviewers. All established and some new variables of defaecatory structure and function were assessed objectively: anorectal dimensions; anorectal angle changes; evacuation time; percentage contrast evacuated; and incidence of rectal wall morphological ‘abnormalities’.

Results

Normal ranges were calculated for all main variables. Mean end‐evacuation time was 88 s (95% CI: 63–113) in male subjects and 128 s (95% CI: 98–158) in female subjects; percentage contrast evacuated was 71% (95% CI: 63–80) in male subjects and 65% (95% CI: 58–72) in female subjects. Twenty‐six (93%) of 28 female subjects had a rectocoele with a mean depth of 2.5 cm (upper limit = 3.9 cm). Recto–rectal intussusception was found in nine subjects (approximately 20% of both genders); however, recto–anal intussusception was not observed. Only rectal diameter differed significantly between genders. Qualitatively, three patterns of evacuation were present.

Conclusion

This study defines normal ranges for anorectal dimensions and parameters of emptying, as well as the incidence and characteristics of rectal‐wall ‘abnormalities’ observed or derived from EP. These ranges can be applied clinically for subsequent disease comparison.
The impact of recurrence of primary glomerulonephritis on renal allograft outcome
Authors: Moroni Gabriella , Longhi Selena , Quaglini Silvana , Rognoni Carla , Simonini Paola , Binda Valentina , Montagnino Giuseppe , Messa Piergiorgio
Published: February 2014

Twenty‐yr patient and death‐censored graft survival of 348 kidney transplant recipients with primary glomerulonephritis (GN) and of 696 matched controls were 82.2% in GN patients and 75% in controls (p = 0.037) and 49.5% and 54%, respectively (p = 0.013). GN patients had a higher incidence of graft failure than controls even considering death as a competing risk (p = 0.004). In the GN group, graft survival of deceased and of living donor recipients was similar. At multivariate analysis, GN as primary disease (RR: 1.47), delayed graft function recovery (RR: 2.34), acute rejection (RR: 2.36), and any PRA positivity (RR: 1.01) were predictive of graft loss. GN recurred in 85 of 348 grafts (24.4%), and 43 were lost for recurrence. In non‐recurrent patients, graft survival at 20 yr was significantly better than in recurrent patients (59.4% vs. 24.4%, p = 0.000), but not different from that of controls (59.4 vs. 54%, p = 0.9). At multivariate analysis, young age at transplantation (RR: 0.97), shorter duration of dialysis (RR: 1.05 per each dialysis year), and graft from living donors (RR: 1.668) were independent predictors of recurrence. Patients with primary GN have reduced graft survival in comparison with controls, and this is mainly due to recurrence of original disease. However, the most frequent recurrence in living recipients does not compromise graft survival.
Clinical, dermoscopic and histopathological features of melanocytic nevi in dystrophic epidermolysis bullosa
Authors: Fernandes Juliana Dumêt , Rivitti‐Machado Maria Cecilia , Nakano Juliana , de Oliveira Rocha Bruno , Oliveira Zilda Najjar P.
Published: February 2014

Background

Epidermolysis bullosa (EB) nevi are acquired pigmented melanocytic lesions which may have clinical and dermoscopic features quite similar to those found in melanoma. More detailed information on this phenomenon is still lacking.

Objectives

To evaluate clinical, dermoscopic, and histopathological features of melanocytic lesions in 13 patients with dystrophic EB (DEB).

Patients and Methods

Patients underwent clinical and dermoscopic evaluation. Suspicious lesions were excised and examined microscopically.

Results

There were 12 cases of recessive DEB and one of dominant DEB. Five patients were men; 8 were women; the ages ranged from 2 to 27 years old. All patients had at least 2 atypical melanocytic lesions. Two of the 5 biopsied patients showed an atypical nevus or lentigo on histopathological examination.

Conclusions

We observed a high incidence of large and atypical melanocytic lesions in DEB patients. Although the exact explanation for this is still unclear, it seems that re‐epithelization and the chronic inflammatory process may stimulate the proliferation of melanocytes, as well as the emergence of lesions with atypical clinical and dermoscopic features. As an unequivocal discrimination from malignant melanoma in vivo is not always possible, regular clinical follow‐up and histopathological evaluation of suspicious lesions in EB patients are mandatory.
Lichen planopilaris: Epidemiology and prevalence of subtypes – a retrospective analysis in 104 patients
Authors: Meinhard Johanna , Stroux Andrea , Lünnemann Lena , Vogt Annika , Blume‐Peytavi Ulrike
Published: February 2014

Background

Management of patients with lichen planopilaris (LPP) and frontal fibrosing alopecia (FFA) is rendered difficult as robust epidemiologic data, insights on pathogenesis, associated diseases, possible relevance of concomitant medications or environmental factors are lacking.

Patients and Methods

Retrospective analysis of demography, skin status, concomitant medication and diagnostic procedures were performed on 104 medical records (71 classic LPP, 32 FFA, and one Graham‐Little‐Piccardi‐Lassueur syndrome).

Results

Women were more often affected (distribution F: M classic LPP 4.9: 1; FFA: 31: 1). Compared to LPP patients, patients with FFA were significantly older (p < 0.001), more often postmenopausal, and more frequently on hormone replacement therapy. No other specific associations were identified. An association with lichen planus, other autoimmune diseases, or hepatitis virus infection was found only in individual patients. Clinically, FFA patients were significantly more often reported to have reduced eyebrows (p < 0.005), axillary, and/or pubic hair (p = 0.050).

Conclusions

The findings obtained from this study, with currently largest LPP/FFA patient cohort in Germany, encouraged us to set up a national FFA patient registry. Prospective data collected from larger numbers of patients with standardized questionnaires will help to assess assumed associations and influencing factors and to develop, in the long‐term, recommendations for diagnosis and treatment.
Rapid deforestation threatens mid‐elevational endemic birds but climate change is most important at higher elevations
Authors: Harris J. Berton C. , Dwi Putra Dadang , Gregory Stephen D. , Brook Barry W. , Prawiradilaga Dewi M. , Sodhi Navjot S. , Wei Dan , Fordham Damien A.
Published: February 2014

Aim

Deforestation and climate change are two of the most serious threats to tropical birds. Here, we combine fine‐scale climatic and dynamic land cover models to forecast species vulnerability in rain forest habitats.

Location

Sulawesi, Indonesia.

Methods

We sampled bird communities on four mountains across three seasons in Lore Lindu National Park, Sulawesi, Indonesia (a globally important hotspot of avian endemism), to characterize relationships between elevation and abundance. Deforestation from 2000 to 2010 was quantified, and predictors of deforestation were identified. Future forest area was projected under two land use change scenarios – one assuming current deforestation rates and another assuming a 50% reduction in deforestation. A digital elevation model and an adiabatic lapse rate were used to create a fine‐scale map of temperature in the national park. Then, the effects of climate change were projected by fitting statistical models of species abundance as a function of current temperature and forecasting future abundance based on warming from low‐ and high‐emissions climate change.

Results

The national park lost 11.8% of its forest from 2000 to 2010. Model‐based projections indicate that high‐elevation species (white‐eared myza Myza sarasinorum and Sulawesi leaf‐warbler Phylloscopus sarasinorum) might be buffered from deforestation because their ranges are isolated from human settlement, but these species may face steep population declines from climate change (by as much as 61%). The middle‐elevation sulphur‐bellied whistler Pachycephala sulfuriventer is predicted to undergo minor declines from climate change (8–11% reduction), while deforestation is predicted to cause larger declines of 13–19%.

Main conclusions

The biological richness and rapid deforestation now occurring inside the national park emphasize the need for increased enforcement, while our modelling suggests that climate change is most threatening to high‐elevation endemics. These findings are likely applicable to other highland tropical sites where deforestation is encroaching from below and climate change is stressing high‐elevation species from above.
Long‐term outcome of endoscopic balloon dilation for small bowel strictures in patients with Crohn's disease
Authors: Hirai Fumihito , Beppu Takahiro , Takatsu Noritaka , Yano Yutaka , Ninomiya Kazeo , Ono Yoichiro , Hisabe Takashi , Matsui Toshiyuki
Published: February 2014

Background and Aim

Endoscopic balloon dilation (EBD) is an alternative to surgery for small bowel strictures of patients with Crohn's disease (CD). However, little is known about the long‐term efficacy of EBD. The aim of the present study was to clarify the long‐term outcome of EBD for small bowel strictures in patients with CD.

Methods

Subjects comprised 65 patients with CD who underwent EBD for small intestinal strictures and were followed up for at least 6 months. All subjects had obstructive symptoms as a result of small bowel strictures. Short‐term success was defined as technical success and the disappearance of obstructive symptoms. The short‐term success rate of EBD, its safety profile, the cumulative surgery‐free rate and the cumulative redilation‐free rate were investigated.

Results

Short‐term success rate was 80.0% (52/65). Complications were encountered in six of the 65 patients (9.2%). Seventeen patients (26.2%) underwent surgery during the observation period of this study. Cumulative surgery‐free rate after initial EBD was 79% at 2 years and 73% at 3 years, respectively. EBD successful cases showed significantly higher surgery‐free rates than unsuccessful cases (P < 0.0001). In 52 of the successful cases, the cumulative redilation‐free rate after initial EBD was 64% at 2 years and 47% at 3 years, respectively.

Conclusion

EBD for small bowel strictures secondary to CD provides not only short‐term success but also long‐term efficacy. However, the high redilation rate is one of the clinical problems of this procedure.
Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome
Authors: Freilinger Michael , Böhm Michael , Lanator Ines , Vergesslich‐Rothschild Klara , Huber Wolf‐Dietrich , Anderson Alison , Wong Kingsley , Baikie Gordon , Ravikumara Madhur , Downs Jenny , Leonard Helen
Published: February 2014

Aim

This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and identified recommendations for assessment and management of gallbladder disease.

Method

The incidence of cholelithiasis/cholecystectomy was estimated from data describing 270 and 681 individuals with a pathogenic MECP2 mutation in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database respectively. Gallbladder function in 25 females (mean age 16y 5mo, SD 20y 7mo, range 3y 5mo–47y 10mo) with Rett syndrome (RTT) was evaluated with clinical assessment and ultrasound of the gallbladder. The Delphi technique was used to develop assessment and treatment recommendations.

Results

The incidence rate for cholelithiasis and/or cholecystectomy was 2.3 (95% confidence interval [CI] 1.1–4.2) and 1.8 (95% CI 1.0–3.0) per 1000 person‐years in the Australian and International Databases respectively. The mean contractility index of the gallbladder for the clinical sample was 46.5% (SD 38.3%), smaller than for healthy individuals but similar to children with Down syndrome, despite no clinical symptoms. After excluding gastroesophageal reflux, gallbladder disease should be considered as a cause of abdominal pain in RTT and cholecystectomy recommended if symptomatic.

Interpretation

Gallbladder disease is relatively common in RTT and should be considered in the differential diagnosis of abdominal pain in RTT.
Sleep disturbances in Malaysian children with cerebral palsy
Authors: Atmawidjaja Raymond Warouw , Wong Sau Wei , Yang Wai Wai , Ong Lai Choo
Published: February 2014

Aim

The aim of the study was to compare the frequency and type of sleep disturbances in a group of Malaysian children aged 4 to 18 years with cerebral palsy (CP) with their nearest‐age, able‐bodied siblings and to identify factors associated with sleep disturbances.

Method

The study was a case–control study of 109 children with CP (61 males, 48 females; mean age 9y, SD 3y 11mo, range 4–18y) and their healthy siblings (56 males, 53 females; mean age 10y, SD 3y 9mo, range 4–18y). The Sleep Disturbances Scale for Children (SDSC) questionnaire was completed by the main caregiver. In children with CP, multiple regression analysis was be used to determine factors related to higher Total SDSC sleep scores.

Results

Ninety‐seven children (89%) had spastic CP, 10 (9%) had dyskinetic CP, and two (2%) had mixed CP. Based on the Gross Motor Function Classification System (GMFSC), 34 patients (31%) were at GMFSC level I or II, 10 patients (9%) at level III, and 65 patients (60%) at level IV or V. Children with CP scored significantly higher than their siblings on Total SDSC and four SDSC subscale scores – difficulty in initiating and maintaining sleep, sleep breathing disorders, sleep–wake transition disorders, and sleep hyperhidrosis. Caregiver sleep duration of less than 7 hours (p=0.02) and caregiver sleep latency of more than 30 minutes (p=0.03) were significantly associated with higher Total SDSC scores. Co‐sleeping was not a significant factor.

Interpretation

Sleep disturbances are more common in children with CP than in their siblings. Attention should be given to caregiver sleep when evaluating sleep disturbances in children with CP as this factor was shown to be associated with higher Total SDSC scores.
Factors associated with statin treatment for the primary prevention of cardiovascular disease in people within 2 years following diagnosis of diabetes in Scotland, 2006–2008
Authors: Jones N. R. V. , Fischbacher C. M. , Guthrie B. , Leese G. , Lindsay R. S. , McKnight J. A. , Pearson D. , Philip S. , Sattar N. , Wild S. H. ,   the Scottish Diabetes Research Network Epidemiology Group
Published: February 2014

Aim

To describe characteristics associated with statin prescribing for the primary prevention of cardiovascular disease in people with newly diagnosed diabetes.

Methods

Data from the Scottish Care Information—Diabetes Collaboration data set for 2006–2008 were used. This data set contains socio‐demographic and prescribing data for over 99% of people with diagnosed diabetes in Scotland. Analyses were conducted on people aged over 40 years diagnosed with Type 1 or Type 2 diabetes between 2006 and 2008 with complete data and no previous history of cardiovascular or statin prescription. Logistic regression was used to calculate odds ratios for statin prescription in the 2 years following diagnosis of diabetes.

Results

There were 7157 men and 5601 women who met the inclusion criteria, 68% of whom had a statin prescription recorded in the 2 years following diagnosis of diabetes. The proportions receiving statins were lower above 65 years of age in men and 75 years of age in women. People with Type 1 diabetes had lower odds of receiving statins than people with Type 2 diabetes [odds ratio (95% CI) 0.42 (0.29–0.61) for men and 0.48 (0.28–0.81) for women, after adjustment for age, BMI, smoking status, cholesterol level and deprivation]. Higher total cholesterol, BMI and being a current smoker were associated with greater odds of statin prescription.

Conclusion

Approximately one third of the study population had no record of statin prescription during the 2 years after diagnosis of diabetes. Cardiovascular disease risk reduction opportunities may be missed in some of these people.
Weight changes in obese adults 6‐months after discontinuation of double‐blind zonisamide or placebo treatment
Authors: Shin J. H. , Gadde K. M. , Østbye T. , Bray G. A.
Published: February 2014

We evaluated weight changes in obese patients at 6‐months after they ended participation in a 12‐month randomised controlled trial in which they received daily placebo, zonisamide 200 mg or zonisamide 400 mg, in addition to lifestyle counselling. Of the originally randomised 225 patients, 218 completed month‐12 when study interventions were discontinued. For the 154 patients who returned for 6‐month follow‐up off‐treatment, weight changes between month‐12 and month‐18 for placebo (n = 53), zonisamide 200 mg (n = 49) and zonisamide 400 mg groups (n = 52) were 0.5 kg [95% confidence interval (CI), −0.8 to 1.8; 0.7%], 1.5 kg (0.2–2.8; 1.6%; p = 0.26 vs. placebo) and 2.4 kg (1.1–3.7; 2.6%; p = 0.04 vs. placebo), respectively. Our results suggest that although zonisamide 400 mg daily for 12‐months resulted in greater weight loss than with placebo, weight regain after discontinuation of interventions was greater in the zonisamide 400 mg group than placebo group.
Association of adiponectin (ADIPOQ) rs2241766 polymorphism and dyslipidemia in HIV/HCV‐coinfected patients
Authors: Pineda‐Tenor Daniel , Berenguer Juan , García‐Broncano Pilar , Jiménez‐Sousa María A. , Fernández‐Rodríguez Amanda , Diez Cristina , García–Álvarez Mónica , Carrero Ana , Catalán Pilar , Aldámiz‐Echevarria Teresa , Resino Salvador
Published: February 2014

Background

The adiponectin (ADIPOQ) rs2241766 polymorphism is related to metabolic abnormalities. The aim of this study was to evaluate the association of the ADIPOQ rs2241766 polymorphism with serum dyslipidemia and insulin resistance (IR) in human immunodeficiency virus (HIV)/hepatitis C virus (HCV)‐coinfected patients.

Methods

We carried out a cross‐sectional study on 262 patients. ADIPOQ rs2241766 polymorphisms were genotyped by GoldenGate® assay. Generalized linear models (GLMs) were used to compare continuous outcome variables (total cholesterol (TC), triglycerides (TG), low‐density lipoprotein cholesterol (LDL‐C), high‐density lipoprotein cholesterol (HDL‐C), non‐HDL‐C and homeostatic model assessment (HOMA)) and categorical outcome variables (TC ≥ 200 mg/dL, TG ≥ 170 mg/dL, LDL‐C ≥ 100 mg/dL, HDL‐C ≤ 35 mg/dL, non‐HDL‐C ≥ 120 mg/dL and HOMA ≥ 3·8) according to ADIPOQ genotype under a dominant inheritance model.

Results

Patients with the rs2241766 GG/GT genotype had significantly lower serum TC levels (P = 0·038) and percentages of TC ≥ 200 mg/dL (P = 0·022) than rs2241766 TT carriers. When adjusted GLM was performed, rs2241766 GG/GT was associated with low serum TC levels (arithmetic mean ratio (AMR) = 0·92 [(95% CI = 0·85; 0·99) P = 0·024]) and low likelihood of TC ≥ 200 mg/dL (odds ratio (OR) = 0·32 [(95% CI = 0·11; 0·88) P = 0·027]. When stratifying by steatosis, no significant values were found for patients without steatosis. However, for patients with steatosis, rs2241766 GG/GT genotypes were related to low TC serum values of TC (AMR = 0·89; P = 0·027), LDL‐C (AMR = 0·85; P = 0·039) and non‐HDL‐C (AMR = 0·86; P = 0·015). No significant associations were found between rs2241766 and HOMA values.

Conclusions

The presence of the ADIPOQ rs2241766 G allele (GG/GT genotype) was associated with a protective effect against dyslipidemia, primarily in HIV/HCV‐coinfected patients with steatosis.
CD20‐positive plasmablastic lymphoma with excellent response to bortezomib combined with rituximab
Authors: Yan Min , Dong Zhaoming , Zhao Frank , Chauncey Thomas , Deauna‐Limayo Delva , Wang‐Rodriguez Jessica , Liu Dayu , Wang Huan‐You , Pilz Renate
Published: February 2014

As a distinct type of aggressive mature large B‐cell lymphoma, plasmablastic lymphoma (PBL) poses diagnostic and treatment challenges. PBL is distinguished from other B‐cell lymphomas by the presence of plasmacytic differentiation markers such as CD38, CD138, and MUM1. Clinically, PBLs from oral and extra‐oral sites are rapidly progressive tumors with frequent relapse after treatment with standard diffuse large B‐cell lymphoma regimens. Here, we report a near‐complete response of one patient with relapsed PBL following treatment with a non‐cytotoxic regimen containing bortezomib, rituximab, and dexamethasone.
Acute myeloid leukemia following solid organ transplantation: entity or novelty?
Authors: Rashidi Armin , Fisher Stephen I.
Published: February 2014

Due to the rarity of the disease, the characteristics of acute myeloid leukemia following solid organ transplantation (post‐transplant AML; PT‐AML) are unclear; furthermore, it is not known for certain whether PT‐AML is a separate entity or not. We provide a systematic review of all previously reported cases of PT‐AML in the English literature (n = 51). 45% of cases occurred after renal transplantation, and 72% were males. The median age at diagnosis of AML was 50 yr, with a median transplant‐to‐AML interval of 3.8 yr and a rapid decline in incidence after 5 yr. 26% of patients were asymptomatic at the time of presentation, and 42% were pancytopenic. M0/M1/M2, M3, M4/M5, and M6/M7 subtypes comprised 17%, 25%, 39%, and 19% of all cases, respectively. 36% of patients had unfavorable cytogenetic risk disease. The median overall survival was only 3 months. We observed several transplant‐specific features: (i) The transplant‐to‐AML interval follows two very different patterns between renal vs. liver transplant patients. (ii) All 4 cases of donor cell leukemia occurred after liver transplant. (iii) Unfavorable risk disease was marginally significantly more common among renal compared with liver transplant patients (P = 0.057). Our results suggest that PT‐AML is a separate entity with distinct characteristics, which need to be investigated further in future research. Heavy post‐transplant immunosuppression likely plays a key role in the pathogenesis of PT‐AML.
Cantharidin world in nature: a concealed arthropod assemblage with interactions via the terpenoid cantharidin
Authors: Hashimoto Kosei , Hayashi Fumio
Published: February 2014

Cantharidin is produced by beetles of only two families, the Meloidae and the Oedemeridae. This substance is a defensive terpenoid that is toxic to the enemies of the beetles. Cantharidin also attracts other groups of insects and has been used as a bait to trap them. Cantharidin‐baited traps deployed in central Japan captured coleopterans (Anthicidae, Endomychidae, Pyrochroidae, and Scarabaeidae), dipterans (Ceratopogonidae), hymenopterans (Formicidae), and harvestmen (Podoctidae). The seasonal occurrences of these arthropods, their sex ratios, known feeding choices, and mating habits suggest three possible underlying reasons for the attractancy of cantharidin: (i) it is accumulated as a defense against enemies and sometimes for transfer from males to females as a nuptial gift; (ii) it is used as a chemical cue in food searching; and (iii) it is used as an aggregation pheromone by mature arthropod individuals. The group of canthariphilous arthropods we describe represents a cryptic ecological assemblage with rare chemical networking among apparently unrelated species.
Innate attractant for long‐tongued bumblebee, Bombus diversus diversus in floral scent of bumblebee‐pollinated epiparasitic plant, Monotropastrum humile (Ericaceae)
Authors: Kubo Ryohei , Ono Masato
Published: February 2014

The epiparasitic plant Monotropastrum humile (D. Don) Hara is pollinated by workers of the long‐tongued bumblebee, Bombus diversus diversus (Smith). The interaction between the floral scents of this plant and bumblebee was investigated using electrophysiological and behavioral techniques. Three components (linalool, α‐terpineol and geraniol) elicited strong responses in antennae from B. d. diversus workers and are innate attractants, suggesting floral scents play an important role in attracting these pollinators and successful pollination.
The Caries Assessment Spectrum and Treatment (CAST) instrument: construct validation
Authors: de Souza Ana L. , Leal Soraya C. , Chaves Sacha B. , Bronkhorst Ewald M. , Frencken Jo E. , Creugers Nico H. J.
Published: February 2014

The Caries Assessment Spectrum and Treatment (CAST) is a newly developed epidemiological instrument. The aim of this study was to investigate its construct validity. Four calibrated examiners, using CAST codes 0–6, visually examined 109 surfaces of extracted and exfoliated teeth. These teeth were then hemisectioned, photographed, and assessed histologically by two calibrated examiners using the Downer criteria. Twenty‐eight of the 109 teeth were scanned using micro‐computed tomography (micro‐CT) and assessed by the same examiners using the same criteria. Validation was determined through calculation of the sensitivity, specificity, and Youden index for two categories of carious lesions examined visually, with histology and micro‐CT as gold standards. Interexaminer consistency was κ = 0.76: SE ± 0.05 between visual and histological assessments of teeth and was κ = 0.89: SE ± 0.08 between visual and micro‐CT assessments. For the category ‘healthy’ vs. ‘diseased’ (CAST codes 0–2 vs. CAST codes 3–6), sensitivity, specificity, and Youden index values of 100%, 92.9%, and 93%, respectively, for micro‐CT, and 96.6%, 86%, and 83%, respectively, for histology, were obtained. For the category ‘dentine’ vs. ‘non‐dentine lesions’ (CAST codes 0–3 vs. CAST codes 4–6) sensitivity, specificity, and Youden index values of 90%, 100%, and 90%, respectively, for micro‐CT, and 81.4%, 100%, and 81%, respectively, for histology, were obtained. Construct validity of the CAST instrument was obtained.
Ethmoid adenocarcinoma: Severe neurological complications after combined laser ablation and intralesional formalin injection
Authors: Maischberger E. , Jackson M. A. , Kühn K. , Grest P. , de Brot S. , Wehrli Eser M.
Published: February 2014

An 11‐year‐old Warmblood gelding with chronic bilateral epistaxis was diagnosed with an adenocarcinoma of the right ethmoid, based on transendoscopic biopsy. On computed tomography images, the cribriform plate was considered intact and the tumour was minimally invasive in surrounding tissue. The palliative treatment included a combination of surgical exploration and laser ablation. Following recurrence of the clinical signs one month later, intralesional formalin injection was performed. In the immediate post injection period, the horse developed severe neurological signs. Because of the overall poor prognosis, the horse was subjected to euthanasia. On post mortem examination, changes were seen in the frontal lobe consistent with diffusion of formalin through the cribriform plate. Care is needed when treating horses with intralesional formalin because macroscopic appearance of the cribriform plate may not relate to its functionality.
Diagnosis and treatment of intrathecal tears of the accessory ligament of the superficial digital flexor
Authors: Minshall G. J. , Wright I. M.
Published: February 2014

Reasons for performing study

Tears of the accessory ligament of the superficial digital flexor (ALSDF) that communicate with the carpal sheath are not reported in the literature. The study describes ultrasonographic techniques for evaluation of the ALSDF and reports clinical, ultrasonographic and endoscopic features associated with intrathecal tears of the ligament.

Objectives

To investigate whether tearing of the ALSDF can be: 1) intrathecal with respect to the carpal sheath; 2) cause lameness and distension of the carpal sheath; and 3) result in intrathecal haemorrhage by tearing vessels that appear to be direct branches of the median artery, as well as to confirm that these lesions are reliably predicted by ultrasonography.

Study design

Retrospective case series.

Methods

Case records and diagnostic images of horses with ALSDF injuries were reviewed retrospectively, and follow‐up information was obtained.

Results

Ultrasonographic examination using a combination of linear and curved array transducers identified 10 cases with intrathecal tears of the ALSDF. This was confirmed in 7 cases that underwent tenoscopy. Tears were consistently in the caudal ALSDF and in 3 cases exposed the median artery. Extruded torn fibres were removed. Of the 7 surgical cases, one horse returned to competitive work, one was back in full training, 2 were retired from racing but performing riding club activities, 2 were convalescing and one was lost to follow‐up. Of the 3 cases that did not undergo surgery, one was subjected to euthanasia and the other 2 failed to return to training.

Conclusions

Tears of the ALSDF can communicate with the carpal sheath, resulting in lameness and intrathecal haemorrhage. The latter appears to result from vessels that are primary branches of the median artery, and tears in the ALSDF can extend to this. These injuries are reliably predicted by multimodal ultrasonography, which also allows assessment of the proximity of tears to the median artery.
Bone fatigue and its implications for injuries in racehorses
Authors: Martig S. , Chen W. , Lee P. V. S. , Whitton R. C.
Published: February 2014

Musculoskeletal injuries are a common cause of lost training days and wastage in racehorses. Many bone injuries are a consequence of repeated high loading during fast work, resulting in chronic damage accumulation and material fatigue of bone. The highest joint loads occur in the fetlock, which is also the most common site of subchondral bone injury in racehorses. Microcracks in the subchondral bone at sites where intra‐articular fractures and palmar osteochondral disease occur are similar to the fatigue damage detected experimentally after repeated loading of bone. Fatigue is a process that has undergone much study in material science in order to avoid catastrophic failure of engineering structures. The term ‘fatigue life’ refers to the numbers of cycles of loading that can be sustained before failure occurs. Fatigue life decreases exponentially with increasing load. This is important in horses as loads within the limb increase with increasing speed. Bone adapts to increased loading by modelling to maintain the strains within the bone at a safe level. Bone also repairs fatigued matrix through remodelling. Fatigue injuries develop when microdamage accumulates faster than remodelling can repair. Remodelling of the equine metacarpus is reduced during race training and accelerated during rest periods. The first phase of remodelling is bone resorption, which weakens the bone through increased porosity. A bone that is porous following a rest period may fail earlier than a fully adapted bone. Maximising bone adaptation is an important part of training young racehorses. However, even well‐adapted bones accumulate microdamage and require ongoing remodelling. If remodelling inhibition at the extremes of training is unavoidable then the duration of exposure to high‐speed work needs to be limited and appropriate rest periods instituted. Further research is warranted to elucidate the effect of fast‐speed work and rest on bone damage accumulation and repair.
Measuring Deal Premiums in Takeovers
Authors: Mulherin Harold , Aziz Simsir Serif
Published: February 2014

We investigate whether the merger announcement dates provided in the Securities Data Corporation (SDC) database are handled correctly by researchers performing event studies. We find that in 24.1% of deals, the popular choice of using the SDC's “Date Announced” field as the event date leads to biased estimates of target firm abnormal returns because of earlier abnormal price movements due to merger‐related events such as merger rumors or search‐for‐buyer types of announcements. We hand collect the merger‐related events from news sources and make the complete data set publicly available at the Financial Management website.
Potential carbon sequestration of European arable soils estimated by modelling a comprehensive set of management practices
Authors: Lugato Emanuele , Bampa Francesca , Panagos Panos , Montanarella Luca , Jones Arwyn
Published: February 2014

Bottom–up estimates from long‐term field experiments and modelling are the most commonly used approaches to estimate the carbon (C) sequestration potential of the agricultural sector. However, when data are required at European level, important margins of uncertainty still exist due to the representativeness of local data at large scale or different assumptions and information utilized for running models. In this context, a pan‐European (EU + Serbia, Bosnia and Herzegovina, Montenegro, Albania, Former Yugoslav Republic of Macedonia and Norway) simulation platform with high spatial resolution and harmonized data sets was developed to provide consistent scenarios in support of possible carbon sequestration policies. Using the CENTURY agroecosystem model, six alternative management practices (AMP) scenarios were assessed as alternatives to the business as usual situation (BAU). These consisted of the conversion of arable land to grassland (and vice versa), straw incorporation, reduced tillage, straw incorporation combined with reduced tillage, ley cropping system and cover crops. The conversion into grassland showed the highest soil organic carbon (SOC) sequestration rates, ranging between 0.4 and 0.8 t C ha−1 yr−1, while the opposite extreme scenario (100% of grassland conversion into arable) gave cumulated losses of up to 2 Gt of C by 2100. Among the other practices, ley cropping systems and cover crops gave better performances than straw incorporation and reduced tillage. The allocation of 12 to 28% of the European arable land to different AMP combinations resulted in a potential SOC sequestration of 101–336 Mt CO2 eq. by 2020 and 549‐2141 Mt CO2 eq. by 2100. Modelled carbon sequestration rates compared with values from an ad hoc meta‐analysis confirmed the robustness of these estimates.
On the tracks of Nitrogen deposition effects on temperate forests at their southern European range – an observational study from Italy
Authors: Ferretti Marco , Marchetto Aldo , Arisci Silvia , Bussotti Filippo , Calderisi Marco , Carnicelli Stefano , Cecchini Guia , Fabbio Gianfranco , Bertini Giada , Matteucci Giorgio , de Cinti Bruno , Salvati Luca , Pompei Enrico
Published: February 2014

We studied forest monitoring data collected at permanent plots in Italy over the period 2000–2009 to identify the possible impact of nitrogen (N) deposition on soil chemistry, tree nutrition and growth. Average N throughfall (N‐NO3+N‐NH4) ranged between 4 and 29 kg ha−1 yr−1, with Critical Loads (CLs) for nutrient N exceeded at several sites. Evidence is consistent in pointing out effects of N deposition on soil and tree nutrition: topsoil exchangeable base cations (BCE) andpHdecreased with increasing N deposition, and foliar nutrient N ratios (especially N : P and N : K) increased. Comparison between bulk openfield and throughfall data suggested possible canopy uptake of N,levelling out for bulk deposition >4–6 kg ha−1 yr−1. Partial Least Square (PLS) regression revealed that ‐ although stand and meteorological variables explained the largest portion of variance in relative basal area increment (BAIrel2000–2009) ‐ N‐related predictors (topsoil BCE, C : N,pH; foliar N‐ratios; N deposition) nearly always improved the BAIrelmodel in terms of variance explained (from 78.2 to 93.5%) and error (from 2.98 to 1.50%). N deposition was the strongest predictor even when stand, management and atmosphere‐related variables (meteorology and tropospheric ozone) were accounted for. The maximal annual response of BAIrelwas estimated at 0.074–0.085% for every additional kgN. This corresponds to an annual maximal relative increase of 0.13–0.14% of carbon sequestered in the above‐ground woody biomass for every additional kgN, i.e. a median value of 159 kgC per kgN ha−1 yr−1(range: 50–504 kgC per kgN, depending on the site). Positive growth response occurred also at sites where signals of possible, perhaps recent N saturation were detected. This may suggest a time lag for detrimental N effects, but also that, under continuous high N input, the reported positive growth response may be not sustainable in the long‐term.
Migration of metamorphic CO2 into a coal seam: a natural analog study to assess the long‐term fate of CO2 in Coal Bed Carbon Capture, Utilization, and Storage Projects
Authors: Wang L. , Cheng Y. , Li W.
Published: February 2014

This study assesses the displacement of coalbed methane by CO2 migration along a fault into the coal seam in the Yaojie coalfield. Coal and gas samples were collected continuously at various distances in NO.2 coal seam from F19 fault. Vitrinite reflectance, maceral, and pore distributions and proximate analysis of fourteen coal samples were performed. Gas components, concentrations, carbon isotopes of 28 gas samples were determined. We examined the coal–gas trace characteristics of coalbed methane displaced away from the fault by CO2 injection after geological ages. From east to west, away from the F19 fault, the CO2 concentration decreased, whereas the CH4 concentration increased gradually. The δ13C values for CO2 varied between −9.94‰ and 1.12‰, suggesting a metamorphic origin. A wider range of values (from −9.94‰ to 20‰) was associated with the mixing of microbial carbon dioxide, isotopic fractionation during CO2 migration through the microporous structures of coals, and/or carbon isotope fractionation during gas–water exchange and dissolution of CO2. Away from the F19 fault, the volumes of micropores, mesopores and macropores decrease gradually. The Dubinin–Radushkevich (DR) micropore volume decreased from 0.0059 to 0.0037 cm3 g‐1, and the mesopore and macropore volumes decreased from 0.066 to 0.026 cm3 g‐1. The CO2 injection can mobilize aromatic hydrocarbons and mineral matter from coal matrix, resulting in the decrease in the absorption peak intensity for coal samples after supercritical CO2 treatment, which indicates that chemical reactions occur between coal and CO2, not only physical adsorption.
Short‐Run Dynamics of Income Disparities and Regional Cycle Synchronization in the U.S.
Authors: Engin Duran Hasan
Published: February 2014

Since the 1990s, the issue of regional income convergence and its long‐term tendencies has been thoroughly and heatedly discussed. Much less attention, however, has been devoted to the short‐run dynamics of regional convergence. In particular, three important aspects have not yet been adequately addressed. First, it is indeed essential to understand whether regional disparities manifest a tendency to move systematically along the national cycle. Then, if this happens to be the case, it becomes crucial to know whether 1) these movements are pro‐ or counter‐cyclical,2) the cyclical evolution of the disparities is a consequence of differences in the timing with which the business cycle is felt in regions or it is motivated by the amplitude differences across local cyclical swings. In this paper, we shed light on these issues using data on personal income for the 48 coterminous U.S. states between 1969 and 2008. Our results indicate that income disparities do not move randomly in the short run but follow a distinct cyclical pattern, moving either pro‐ or counter‐cyclically depending on the period of analysis. These patterns are probably explained by the changes in the direction of capital and labor flows that favor developed or poorer states in different periods. As for the underlying mechanism, it appears that the short‐run evolution of the disparities in recent years is largely a consequence of differences in the timing with which the business cycle is felt across states rather than the outcome of amplitude differences across local cyclical swings.
Neurostimulation for Neck Pain and Headache
Authors: Hong Jennifer , Ball Perry A. , Fanciullo Gilbert J.
Published: February 2014

Patients with medically refractory headache disorders are a rare and challenging‐to‐treat group. The introduction of peripheral neurostimulation (PNS) has offered a new avenue of treatment for patients who are appropriate surgical candidates. The utility of PNS for headache management is actively debated. Preliminary reports suggested that 60‐80% of patients with chronic headache who have failed maximum medical therapy respond to PNS. However, complications rates for PNS are high. Recent publication of 2 large randomized clinical trials with conflicting results has underscored the need for further research and careful patient counseling. In this review, we summarize the current evidence for PNS in treatment of chronic migraine, trigeminal autonomic cephalagias and occipital neuralgia, and other secondary headache disorders.
Headache in Autoimmune Diseases
Authors: John Seby , Hajj‐Ali Rula A.
Published: February 2014

Autoimmune diseases are a group of heterogeneous inflammatory disorders characterized by systemic or localized inflammation, leading to ischemia and tissue destruction. These include disorders like systemic lupus erythematosus and related diseases, systemic vasculitides, and central nervous system (CNS) vasculitis (primary or secondary).

Headache is a very common manifestation of CNS involvement of these diseases. Although headache characteristics can be unspecific and often non‐diagnostic, it is important to recognize because headache can be the first manifestation of CNS involvement. Prompt recognition and treatment is necessary not only to treat the headache, but also to help prevent serious neurological sequelae that frequently accompany autoimmune diseases.

In this review, we discuss headache associated with autoimmune diseases along with important mimics.