bluuebunny/crossref_metadata_2025_split huggingface dataset:
Involvement of astrocyte and oligodendrocyte gene sets in migraine
Authors: Eising Else , de Leeuw Christiaan , Min Josine L , Anttila Verneri , Verheijen Mark HG , Terwindt Gisela M , Dichgans Martin , Freilinger Tobias , Kubisch Christian ,   on behalf of the International Headache Genetics Consortium, Ferrari Michel D , Smit August B , de Vries Boukje , Palotie Aarno , van den Maagdenberg Arn MJM , Posthuma Danielle 
Published: December 2015

Background Migraine is a common episodic brain disorder characterized by recurrent attacks of severe unilateral headache and additional neurological symptoms. Two main migraine types can be distinguished based on the presence of aura symptoms that can accompany the headache: migraine with aura and migraine without aura. Multiple genetic and environmental factors confer disease susceptibility. Recent genome-wide association studies (GWAS) indicate that migraine susceptibility genes are involved in various pathways, including neurotransmission, which have already been implicated in genetic studies of monogenic familial hemiplegic migraine, a subtype of migraine with aura. Methods To further explore the genetic background of migraine, we performed a gene set analysis of migraine GWAS data of 4954 clinic-based patients with migraine, as well as 13,390 controls. Curated sets of synaptic genes and sets of genes predominantly expressed in three glial cell types (astrocytes, microglia and oligodendrocytes) were investigated. Discussion Our results show that gene sets containing astrocyte- and oligodendrocyte-related genes are associated with migraine, which is especially true for gene sets involved in protein modification and signal transduction. Observed differences between migraine with aura and migraine without aura indicate that both migraine types, at least in part, seem to have a different genetic background.
Familial limb pain and migraine: 8-year follow-up of four generations
Authors: Angus-Leppan Heather , Guiloff Roberto J 
Published: December 2015

Background Migraine limb pain may be under-recognized in adults and children. There is little information about familial forms of this disorder. Objectives To describe the clinical and inheritance patterns of familial migraine limb pain over four generations and to review the evidence for limb pain as a manifestation of migraine. Methods Prospective clinical and pedigree analysis with an 8-year follow-up of 27 family members. Results Eight members of the family had benign recurrent limb pain associated with headache in a dominant inheritance pattern. Limb pain occurred before, during or after the headache, with probable or definite migraine with aura, migraine without aura and lower-half headache. The limb pain fulfilled the International Headache Society criteria for aura in six patients and also occurred without headache in three. Four members of the family had recurrent abdominal pain and/or motion sickness in childhood. Conclusions This is the first report of dominant familial limb pain temporally associated with migraine headache, starting in adulthood or starting in childhood and continuing into adulthood. A search for a genetic marker is indicated. Limb pain should be included as a childhood periodic syndrome linked to migraine and recognized as part of the migraine spectrum in adults.
Prevalence and characteristics of migraine in CADASIL
Authors: Guey Stephanie , Mawet Jérôme , Hervé Dominique , Duering Marco , Godin Ophelia , Jouvent Eric , Opherk Christian , Alili Nassira , Dichgans Martin , Chabriat Hugues 
Published: December 2015

Background and objective Migraine with aura (MA) is a major symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We assessed the spectrum of migraine symptoms and their potential correlates in a large prospective cohort of CADASIL individuals. Methods A standardized questionnaire was used in 378 CADASIL patients for assessing headache symptoms, trigger factors, age at first attack, frequency of attacks and associated symptoms. MRI lesions and brain atrophy were quantified. Results A total of 54.5% of individuals had a history of migraine, mostly MA in 84% of them; 62.4% of individuals with MA were women and age at onset of MA was lower in women than in men. Atypical aura symptoms were experienced by 59.3% of individuals with MA, and for 19.7% of patients with MA the aura was never accompanied by headache. MA was the inaugural manifestation in 41% of symptomatic patients and an isolated symptom in 12.1% of individuals. Slightly higher MMSE and MDRS scores and lower Rankin score were detected in the MA group. Conclusion MA is observed in almost half of all CADASIL patients. Atypical aura symptoms are reported by more than one in two of them. MA is often inaugural, can remain isolated and is not associated with the severity of the disorder.
Prediction of Lateral Ankle Sprains in Football Players Based on Clinical Tests and Body Mass Index
Authors: Gribble Phillip A. , Terada Masafumi , Beard Megan Q. , Kosik Kyle B. , Lepley Adam S. , McCann Ryan S. , Pietrosimone Brian G. , Thomas Abbey C. 
Published: December 2015

Background: The lateral ankle sprain (LAS) is the most common injury suffered in sports, especially in football. While suggested in some studies, a predictive role of clinical tests for LAS has not been established. Purpose: To determine which clinical tests, focused on potentially modifiable factors of movement patterns and body mass index (BMI), could best demonstrate risk of LAS among high school and collegiate football players. Study Design: Case-control study; Level of evidence, 3. Methods: A total of 539 high school and collegiate football players were evaluated during the preseason with the Star Excursion Balance Test (SEBT) and Functional Movement Screen as well as BMI. Results were compared between players who did and did not suffer an LAS during the season. Logistic regression analyses and calculated odds ratios were used to determine which measures predicted risk of LAS. Results: The LAS group performed worse on the SEBT–anterior reaching direction (SEBT-ANT) and had higher BMI as compared with the noninjured group ( P < .001). The strongest prediction models corresponded with the SEBT-ANT. Conclusion: Low performance on the SEBT-ANT predicted a risk of LAS in football players. BMI was also significantly higher in football players who sustained an LAS. Identifying clinical tools for successful LAS injury risk prediction will be a critical step toward the creation of effective prevention programs to reduce risk of sustaining an LAS during participation in football.
Therapeutic Breast Massage in Lactation for the Management of Engorgement, Plugged Ducts, and Mastitis
Authors: Witt Ann M. , Bolman Maya , Kredit Sheila , Vanic Anne 
Published: December 2015

Background: Many women in developed countries do not meet their breastfeeding goals and wean early because of breast pain. Objective: This study aimed to describe clinical response to therapeutic breast massage in lactation (TBML) in the management of engorgement, plugged ducts, and mastitis. Methods: Breastfeeding women presenting with engorgement, plugged ducts, or mastitis who received TBML as part of their treatment were enrolled (n = 42). Data collected at the initial visit included demographic, history, and exam data pre-TBML and post-TBML. Email surveys sent 2 days, 2 weeks, and 12 weeks following the initial visit assessed pain and breastfeeding complications. A nested case control of engorged mothers (n = 73) was separately enrolled to compare engorgement severity. Results: Reasons for the visit included engorgement (36%), plugged ducts (67%), and mastitis (29%). Cases, compared to controls, were significantly more likely to have severe engorgement (47% vs 7%, P < .001). Initial mean breast pain level among those receiving TBML was 6.4 out of 10. Following TBML, there was significant improvement in both breast (6.4 vs 2.8, P < .001) and nipple pain (4.6 vs 2.8, P = .013). All women reported immediate improvement in their pain level. At the 12-week survey, 65% found the massage treatment very helpful. The majority of the women with a new episode of mastitis or plugged duct during the study follow-up found the techniques learned during the office visit very helpful for home management of these episodes. Conclusion: In office, TBML is helpful for the reduction of acute breast pain associated with milk stasis. Mothers find TBML helpful both immediately in-office and for home management of future episodes.
Acetylcholinesterase Inhibitors for Delirium in Older Adults
Authors: Tampi Rajesh R. , Tampi Deena J. , Ghori Ambreen K. 
Published: December 2015

Objectives: The aim of this systematic review is to identify published randomized controlled trials (RCTs) that evaluated the use of acetylcholinesterase inhibitors for delirium in older adults (≥60 years). Methods: A literature search was conducted of PubMed, MEDLINE, EMBASE, PsycINFO, and Cochrane collaboration databases for RCTs in any language that evaluated the use of acetylcholinesterase inhibitors for delirium in older adults (≥60 years). Also, bibliographic databases of the published articles were searched for additional studies. Results: A total of 7 RCTs that evaluated the use of acetylcholinesterase inhibitors for delirium in older adults (≥60 years) were identified. In 5 of the 7 studies, there was no benefit for the acetylcholinesterase inhibitor in either the prevention or the management of delirium. In one study, there was a trend toward benefit for the active drug group on the incidence of delirium and the length of hospital stay, but both outcomes did not attain statistical significance. One study found a longer duration of delirium and a longer length of hospital stay in the active drug group when compared to the placebo group. The acetylcholinesterase inhibitors were well tolerated in 4 of the 7 studies. In 1 study, the mortality rate was found to be almost 3 times higher in the group receiving haloperidol and rivastigmine when compared to the group receiving haloperidol and placebo. Conclusion: Current evidence does not suggest efficacy of acetylcholinesterase inhibitors for the prevention or management of delirium in older adults.
Factors Affecting the Results of Superficial Femoral Artery Stenting
Authors: Kay Mark , Rogoveanu Radu , Hodson James , Tallowin Simon , Hopkins Jonathan , Duddy Martin , Vohra Rajiv 
Published: December 2015

Introduction: The aim of this study was to assess the durability of superficial femoral artery (SFA) stents and factors that affect stent patency. Methods: A retrospective assessment of 214 SFA stent procedures between 2003 and 2012 was conducted from a prospectively compiled database. Patency rates and patient outcomes were compiled from case notes and computerized records. Stent patency was confirmed by either duplex scan or clinical examination (palpable distal pulse). Survival and patency were compared across a range of factors using Kaplan-Meier plots and log-rank tests. Factors found to be significant were further assessed by Cox regression models. Results: Data were analyzed for 214 limbs in 205 patients. Inclusion criteria included those patients who received an SFA stent for treatment of claudication or critical limb ischemia (CLI) with follow-up data. This gave a study group of 151 limbs divided into 76 claudicant and 75 patients with CLI (male–female ratio = 103:48, mean age 71 years, standard deviation 11.7). Seventy-one percent of procedures were elective and 29% were emergency procedures; 53% of procedures were carried out on a day case basis. Median follow-up was 11 months (range 1 day-89 months). Patency was significantly worse for patients with CLI ( P = .009), with a 1- and 3-year patency of 63% and 34% compared to 79% and 60% in patients with claudication. Significant factors associated with patency included oral therapy controlled diabetes ( P = .003), lesions located in either the mid-SFA ( P = .029) or the mid-popliteal ( P = .013), and periprocedural complications ( P = .005). There was no significant difference in patency rates between insulin-dependent and nondiabetic patients (hazard ratio: 1.0, 95% confidence interval: 0.4-5.6, P = .983). The overall amputation rate for the total study group was 5%. Patients with 1- and 3-year survival were 98% and 96% in the claudication group and 74% and 51%, respectively, in the CLI group. Conclusion: SFA stents have superior outcomes in claudicants. Patency is related to severity of disease, diabetes, and location of disease.
Treatment of aortic graft infection by in situ reconstruction with Omniflow II biosynthetic prosthesis
Authors: Krasznai AG , Snoeijs MGJ , Siroen MP , Sigterman T , Korsten A , Moll FL , Bouwman LH 
Published: December 2015

Currently available conduits for in situ reconstruction after excision of infected aortic grafts have significant limitations. The Omniflow II vascular prosthesis is a biosynthetic graft associated with a low incidence of infection that has succesfully been used in the treatment of infected infrainguinal bypass. We report on the first use of the Omniflow II prosthesis for in situ reconstruction after aortic graft infection. A bifurcated biosynthetic bypass was created by spatulating and anastomosing two 8-mm tubular Omniflow II grafts. This bypass was used for in situ reconstruction after excision of infected aortic grafts in three cases. After a mean follow-up of 2.2 years, no occlusion, degeneration, or rupture of the Omniflow II grafts was observed. Although one patient suffered from graft reinfection, the bypass retained structural integrity and no anastomotic dehiscence was observed. Treatment of aortic graft infection by in situ reconstruction with the Omniflow II vascular prosthesis is feasible. Its resistance to infection and off-the-shelf availability make this graft a promising conduit for aortoiliac reconstruction.
Piecrusting to Facilitate Skin Closure
Authors: Singh Dishan , Lomax Adam 
Published: December 2015

Wound dehiscence and infection may arise when the skin around the foot or ankle is closed under tension after a surgical incision or trauma. Two cases where a piecrusting technique, using small transdermal incisions made in the surrounding skin similar to the holes in a pie crust, are presented and a literature review of the technique has been performed. The multiple small stab incisions perpendicular to the line of tension have enabled skin closure without tension and have healed with minimal scarring. Levels of Evidence: Level V: Expert opinion
Congenital hepatic fibrosis and polycystic kidney disease not linked to C >A mutation in exon 29 of PKD1 in a Persian cat
Authors: Guerra Juliana Mariotti , Daniel Alexandre Gonçalves Teixeira , Cardoso Natalia Cavalca , Grandi Fabrizio , Queiroga Felisbina , Cogliati Bruno 
Published: December 2015

Case summary We describe the case of a 1-year-old male Persian cat diagnosed with congenital hepatic fibrosis (CHF) associated with renal polycystic disease and, for the first time, we have shown that there was no C >A mutation in exon 29 of PKD1 (polycystic kidney disease 1). The cat presented with a history of chronic weight loss, anorexia, vomiting, depression and lethargy, with profuse salivation and ascites on clinical examination. A mild elevation in liver-associated plasma enzymes suggested a hepatic disease. Owing to the cat’s deteriorating condition, it was euthanized. During necropsy, the liver was found to be enlarged, firm and reddish, and the kidney had multiple small cortical cysts. Immunohistochemistry revealed that bile duct cells and epithelial cells of renal cysts showed positive immunoreactivity to keratin 19. Collagen fibers surrounding bile ducts within portal areas demonstrated reactivity to type IV collagen antibody, confirming the congenital nature of the process. A diagnosis of ductal plate malformation consistent with CHF associated with polycystic kidney in a young Persian cat was made. Interestingly, genetic testing revealed a wild-type sequence at position 3284 in exon 29 of PKD1. Relevance and novel information The absence of the classic genetic mutation associated with the particular clinical presentation supports the hypothesis of a distinct etiopathogenesis among fibropolycystic diseases in domestic cats. Moreover, congenital hepatic fibrosis is a rare but important differential diagnosis for young Persian cats and their crosses with clinical signs of chronic end-stage liver disease.
CCL5 derived from platelets increases megakaryocyte proplatelet formation
Authors: Machlus Kellie R. , Johnson Kelly E. , Kulenthirarajan Rajesh , Forward Jodi A. , Tippy Mason D. , Soussou Thomas S. , El-Husayni Saleh H. , Wu Stephen K. , Wang Suming , Watnick Randolph S. , Italiano Joseph E. , Battinelli Elisabeth M. 
Published: December 2015

Key Points
CCL5 increases MK ploidy and subsequent proplatelet formation in a CCR5-dependent manner. CCL5 may act to increase platelet counts during physiological stress.
Airway dysbiosis:Haemophilus influenzaeandTropherymain poorly controlled asthma
Authors: Simpson Jodie L. , Daly Joshua , Baines Katherine J. , Yang Ian A. , Upham John W. , Reynolds Paul N. , Hodge Sandra , James Alan L. , Hugenholtz Philip , Willner Dana , Gibson Peter G. 
Published: December 2015

Asthma is a chronic inflammatory disorder of the airways where bacteria may act as protagonists of chronic inflammation. Little is known about the relation of airway inflammation to the presence of specific bacterial taxa. We sought to describe the sputum microbiome in adults with poorly controlled asthma.DNA was extracted from induced sputum and microbial communities were profiled using 16S rRNA pyrosequencing. Bacterial species were characterised, and the relationship between microbial populations, asthma inflammatory subtypes and other covariates was explored. Real-time PCR was used to identifyTropheryma whippleiandHaemophilus influenzaein sputum.Adults with neutrophilic asthma had reduced bacterial diversity and species richness.Tropherymawas identified and confirmed with real-time PCR in 12 (40%) participants.Haemophilusoccurred most often in a group of younger atopic males with an increased proportion of neutrophils. PCR confirmed the presence ofH. influenzaein 35 (76%) participants with poorly controlled asthma.There are phenotype-specific alterations to the airway microbiome in asthma. Reduced bacterial diversity combined with a high prevalence ofH. influenzaewas observed in neutrophilic asthma, whereas eosinophilic asthma had abundantT. whipplei.
Bedaquiline in the treatment of multidrug- and extensively drug-resistant tuberculosis
Authors: Pym Alexander S. , Diacon Andreas H. , Tang Shen-Jie , Conradie Francesca , Danilovits Manfred , Chuchottaworn Charoen , Vasilyeva Irina , Andries Koen , Bakare Nyasha , De Marez Tine , Haxaire-Theeuwes Myriam , Lounis Nacer , Meyvisch Paul , Van Baelen Ben , van Heeswijk Rolf P.G. , Dannemann Brian 
Published: December 2015

Bedaquiline, a diarylquinoline, improved cure rates when added to a multidrug-resistant tuberculosis (MDR-TB) treatment regimen in a previous placebo-controlled, phase 2 trial (TMC207-C208;NCT00449644). The current phase 2, multicenter, open-label, single-arm trial (TMC207-C209;NCT00910871) reported here was conducted to confirm the safety and efficacy of bedaquiline.Newly diagnosed or previously treated patients with MDR-TB (including pre-extensively drug-resistant (pre-XDR)-TB or extensively drug-resistant (XDR)-TB) received bedaquiline for 24 weeks with a background regimen of anti-TB drugs continued according to National TB Programme treatment guidelines. Patients were assessed during and up to 120 weeks after starting bedaquiline.Of 233 enrolled patients, 63.5% had MDR-TB, 18.9% had pre-XDR-TB and 16.3% had XDR-TB, with 87.1% having taken second-line drugs prior to enrolment. 16 patients (6.9%) died. 20 patients (8.6%) discontinued before week 24, most commonly due to adverse events or MDR-TB-related events. Adverse events were generally those commonly associated with MDR-TB treatment. In the efficacy population (n=205), culture conversion (missing outcome classified as failure) was 72.2% at 120 weeks, and 73.1%, 70.5% and 62.2% in MDR-TB, pre-XDR-TB and XDR-TB patients, respectively.Addition of bedaquiline to a background regimen was well tolerated and led to good outcomes in this clinically relevant patient cohort with MDR-TB.
Accuracy of diagnostic testing in primary ciliary dyskinesia
Authors: Jackson Claire L. , Behan Laura , Collins Samuel A. , Goggin Patricia M. , Adam Elizabeth C. , Coles Janice L. , Evans Hazel J. , Harris Amanda , Lackie Peter , Packham Samantha , Page Anton , Thompson James , Walker Woolf T. , Kuehni Claudia , Lucas Jane S. 
Published: December 2015

Diagnosis of primary ciliary dyskinesia (PCD) lacks a “gold standard” test and is therefore based on combinations of tests including nasal nitric oxide (nNO), high-speed video microscopy analysis (HSVMA), genotyping and transmission electron microscopy (TEM). There are few published data on the accuracy of this approach.Using prospectively collected data from 654 consecutive patients referred for PCD diagnostics we calculated sensitivity and specificity for individual and combination testing strategies. Not all patients underwent all tests.HSVMA had excellent sensitivity and specificity (100% and 93%, respectively). TEM was 100% specific, but 21% of PCD patients had normal ultrastructure. nNO (30 nL·min−1cut-off) had good sensitivity and specificity (91% and 96%, respectively). Simultaneous testing using HSVMA and TEM was 100% sensitive and 92% specific.In conclusion, combination testing was found to be a highly accurate approach for diagnosing PCD. HSVMA alone has excellent accuracy, but requires significant expertise, and repeated sampling or cell culture is often needed. TEM alone is specific but misses 21% of cases. nNO (≤30 nL·min−1) contributes well to the diagnostic process. In isolation nNO screening at this cut-off would miss ∼10% of cases, but in combination with HSVMA could reduce unnecessary further testing. Standardisation of testing between centres is a future priority.
Oestradiol metabolism and androgen receptor genotypes are associated with right ventricular function
Authors: Ventetuolo Corey E. , Mitra Nandita , Wan Fei , Manichaikul Ani , Barr R. Graham , Johnson Craig , Bluemke David A. , Lima Joao A.C. , Tandri Hari , Ouyang Pamela , Kawut Steven M. 
Published: December 2015

Sex hormones are linked to right ventricular (RV) function, but the relationship between genetic variation in these pathways and RV function is unknown.We performed a cross-sectional study of 2761 genotyped adults without cardiovascular disease. The relationships between RV measures and single nucleotide polymorphisms (SNPs) in 10 candidate genes were assessed. Urinary oestradiol (E2) metabolites produced by cytochrome P4501B1 (CYP1B1) and serum testosterone were measured in women and men respectively.In African-American (AA) women, the CYP1B1 SNP rs162561 was associated with RV ejection fraction (RVEF), such that each copy of the A allele was associated with a 2.0% increase in RVEF. Haplotype analysis revealed associations with RVEF in AA (global p<7.2×10−6) and white (global p=0.05) women. In white subjects, higher E2 metabolite levels were associated with significantly higher RVEF. In men, androgen receptors SNPs (rs1337080; rs5918764) were significantly associated with all RV measures and modified the relationship between testosterone and RVEF.Genetic variation in E2 metabolism and androgen signalling was associated with RV morphology in a sex-specific manner. The CYP1B1 SNP identified is in tight linkage disequilibrium with SNPs associated with pulmonary hypertension and oncogenesis, suggesting these pathways may underpin sexual dimorphism in RV failure.