bluuebunny/crossref_metadata_2025_split huggingface dataset:
Neurodevelopmental and Cognitive Outcomes in Children With Intestinal Failure
Authors: Chesley Patrick M. , Sanchez Sabrina E. , Melzer Lilah , Oron Assaf P. , Horslen Simon P. , Bennett F. Curt , Javid Patrick J. 
Published: December 2015

ABSTRACTObjectives:Recent advances in medical and surgical management have led to improved long‐term survival in children with intestinal failure. Yet, limited data exist on their neurodevelopmental and cognitive outcomes. The aim of the present study was to measure neurodevelopmental outcomes in children with intestinal failure.Methods:Children enrolled in a regional intestinal failure program underwent prospective neurodevelopmental and psychometric evaluation using a validated scoring tool. Cognitive impairment was defined as a mental developmental index <70. Neurodevelopmental impairment was defined as cerebral palsy, visual or hearing impairment, or cognitive impairment. Univariate analyses were performed using the Wilcoxon rank‐sum test. Data are presented as median (range).Results:Fifteen children with a remnant bowel length of 18 (5–85) cm were studied at age 17 (12–67) months. Thirteen patients remained dependent on parenteral nutrition. Twelve (80%) subjects scored within the normal range on cognitive testing. Each child with cognitive impairment was noted to have additional risk factors independent of intestinal failure including cardiac arrest and extreme prematurity. On univariate analysis, cognitive impairment was associated with longer inpatient hospital stays, increased number of surgical procedures, and prematurity (P < 0.02). In total, 4 (27%) children demonstrated findings consistent with neurodevelopmental impairment.Conclusions:A majority of children with intestinal failure demonstrated normal neurodevelopmental and cognitive outcomes on psychometric testing. These data suggest that children with intestinal failure without significant comorbidity may be at low risk for long‐term neurodevelopmental impairment.
Prevalence and Outcomes of Liver Transplantation in Children With Intellectual Disability
Authors: Wightman Aaron , Hsu Evelyn , Zhao Qianqian , Smith Jodi 
Published: December 2015

ABSTRACTObjective:We sought to describe the prevalence and outcomes of liver transplantation in children with intellectual disability (ID). We hypothesized that recipients with ID have comparable short‐term outcomes compared with those without ID.Methods:We performed a retrospective cohort analysis of children receiving a first liver‐alone transplant in the United Network for Organ Sharing dataset from 2008 to 2013. Recipients with definite or probable ID were compared to children without ID using χ2 tests. Kaplan‐Meier curves were constructed for patient and graft survival. Cox proportional hazard models were used to estimate the association between ID and graft failure and patient survival.Results:During the study period, 254 children with definite (115) or probable (139) ID underwent first liver transplant, accounting for 15% of all first pediatric liver transplants (1721). Recipients with definite ID tended to be male have a metabolic indication for transplant, a lower pediatric end‐stage liver disease score at listing than recipients with no ID, and were less likely to receive a living donor transplant. Recipients with ID were more likely to have public insurance and had more treatment‐related hospitalizations in the first year than those without ID. Functional status tended to improve in all recipients at follow‐up. ID was not significantly associated with patient or graft survival.Conclusions:Children with ID form a significant portion of total liver transplant recipients, and their short‐term graft and patient survival are comparable with children without ID. Further research is needed to examine long‐term outcomes of transplant in this population.
Soap Suds Enemas Are Efficacious and Safe for Treating Fecal Impaction in Children With Abdominal Pain
Authors: Chumpitazi Corrie E. , Henkel Erin B. , Valdez Karina L. , Chumpitazi Bruno P. 
Published: December 2015

ABSTRACTObjectives:Constipation is a common cause of pediatric abdominal pain and emergency department (ED) presentation. Despite the high prevalence, there is a dearth of clinical information and wide practice variation in childhood constipation management in the ED. The objective of the study was to assess the efficacy and safety of soap suds enema (SSE) in the therapy for fecal impaction in children with abdominal pain within the pediatric ED setting. The primary outcome was stool output following SSE. Secondary outcomes were adverse events, admissions, and return visits within 72 hours.Methods:The present study is a retrospective cross‐sectional study performed in the ED at a quaternary care children's hospital of patients seen during a 12‐month period who received an SSE for fecal impaction.Results:Five hundred twelve patients (53% girls, median age 7.8 years, range: 8 months–23 years) received SSE therapy during a 1‐year period. Successful therapy (bowel movement) following SSE occurred in 419 (82%). Adverse events included abdominal pain in 24 (5%) and nausea/vomiting in 18 (4%). No SSE‐related serious adverse events were identified. Following SSE, 405 (79%) were subsequently discharged, of which 15 (3.7%) returned to the ED for re‐evaluation within 72 hours.Conclusions:SSE is an efficacious and safe therapeutic option for the acute treatment of childhood fecal impaction in the ED setting.
Vitamin D Levels in Infants With Biliary Atresia
Authors: Ng Jessica , Paul Anu , Wright Naomi , Hadzic Nedim , Davenport Mark 
Published: December 2015

ABSTRACTObjectives:Infants with biliary atresia (BA) are at high risk of vitamin D deficiency. We aimed to determine the prevalence and factors influencing vitamin D levels at presentation and post‐Kasai portoenterostomy (KPE).Methods:Single‐centre retrospective review of infants with BA who underwent KPE. Pre‐ and postoperatively 25‐hydroxyvitamin D (25‐OHVD), liver and bone biochemistry data were collected. 25‐OHVD levels <10 and 10 to 20 ng/mL were defined as vitamin D “deficiency” and “insufficiency,” respectively.Results:One hundred twenty‐nine infants with BA (isolated n = 101, developmental n = 28, and white n = 79; non‐white n = 50) were included in this study. At presentation, 75 of 92 (81%) were vitamin D deficient and only 1 infant had a level >20 ng/mL. Median 25‐OHVD levels were 5(2–23), 17(2–72), 15(2–80), 17(2–69), and 23(2–98) ng/mL at pre‐KPE, 1, 4, 6, and 12 months postoperation. There was no difference in 25‐OHVD levels between the isolated and developmental groups with BA. Pre‐KPE, white infants had significantly higher levels than non‐white infants (6[2–23] vs 3[2–14] ng/mL, P = 0.01). Post‐KPE 25‐OHVD levels correlated well with liver and bone biochemical variables (eg, at 6 months: bilirubin rs = −0.34; P < 0.001, alkaline phosphatase rs = −0.46; P < 0.00001, and phosphate rs = 0.49; P < 0.00001).Conclusions:25‐OHVD deficiency is invariable at presentation in infants with BA, irrespective of its likely aetiology, and is more severe in non‐white infants. Despite routine parenteral and enteral supplementation, low 25‐OHVD levels persist post KPE especially in icteric infants. More aggressive vitamin D supplementation and monitoring in this population is paramount.
Infant Colic—What works
Authors: Harb Tracy , Matsuyama Misa , David Michael , Hill Rebecca J. 
Published: December 2015

ABSTRACTObjectives:To determine the strength of evidence for commonly used interventions for colic in breast‐fed and mixed‐fed infants younger than 6 months.Methods:Searches of PubMed, CINAHL, Embase, AMED, and Web of Science databases were conducted from July 2014 to July 2015. Included studies were randomised controlled trials involving mothers and their colicky infants younger than 6 months; assessed colic against the Wessel or modified Wessel criteria; and included phytotherapies, prescription medicines, and maternal dietary interventions. Studies with <16 participants were excluded. Meta‐analyses were conducted where data were sufficient to enable pooling. Quality was assessed against the Cochrane Risk Bias Assessment Tool.Results:A total of 17 articles met the inclusion criteria for this review. The 6 studies included for subgroup meta‐analysis on probiotic treatment, notably Lactobacillus reuteri, demonstrated that probiotics appear an effective treatment, with an overall mean difference in crying time at day 21 of −55.8 min/day (95% CI −64.4 to −47.3, P = 0.001). The 3 studies included for subgroup meta‐analysis on preparations containing fennel suggest it to be effective, with an overall mean difference of −72.1 min/day (95% CI −126.4 to −17.7, P < 0.001).Conclusions:Probiotics, in particular L reuteri, and preparations containing fennel oil appear effective for reducing colic, although there are limitations to these findings. The evidence for maternal dietary manipulation, lactase, sucrose, glucose, and simethicone is weak. Further well‐designed clinical trials are required to strengthen the evidence for all of these interventions.
EBV Status and Thiopurine Use in Pediatric IBD
Authors: Gordon Julia , Ramaswami Archana , Beuttler Marc , Jossen Jacqueline , Pittman Nanci , Lai Joanne , Dunkin David , Benkov Keith , Dubinsky Marla 
Published: December 2015

ABSTRACTObjectives:Epstein Barr virus (EBV) is a human herpes virus that infects 90% of the world's population and has been linked to the development of lymphoproliferative disorders (LPDs) and immunosuppression. Primary EBV infection in patients with IBD on thiopurines is a risk factor for LPD, including lymphoma. We aimed to describe EBV status in a pediatric population with IBD with an emphasis on those initiating thiopurines.Methods:Electronic medical records and EBV serologies were reviewed and categorized into asymptomatic screening versus suspicion for acute infection. EBV status before therapy was described by sex, age, and therapeutic regimen. Descriptive statistics and univariate analysis were employed.Results:Only 150 (22%) of our 688 pediatric patients with IBD had documented EBV status regardless of age or treatment regimen. Only 17% were assessed for suspicion of acute infection and 83% for screening. Sixty‐four (52%) screened patients were checked before starting any treatment and only 40% were immunoglobulin (Ig)G positive. There was no difference in mean age between the seronegative and seropositive group. The majority (63%) of thiopurine‐treated patients were IgG negative before starting therapy. Eighty percent of primary EBV infections occurred on thiopurines at a mean (SD) of 2 ± 1.5 years after initiating therapy.Conclusions:The majority of our pediatric patients with IBD with documented EBV status were IgG negative at thiopurine initiation. Thiopurines were also associated with primary EBV infection. EBV status may be an important determinate of whether physicians prescribe thiopurines given the risk of primary EBV infections and lymphoproliferative diseases.
Human copy number variants are enriched in regions of low mappability
Authors: Monlong Jean , Cossette Patrick , Meloche Caroline , Rouleau Guy , Girard Simon L. , Bourque Guillaume 
Published: December 2015

AbstractCopy number variants (CNVs) are known to affect a large portion of the human genome and have been implicated in many diseases. Although whole-genome sequencing (WGS) can help identify CNVs, most analytical methods suffer from limited sensitivity and specificity, especially in regions of low mappability. To address this, we usePopSV, a CNV caller that relies on multiple samples to control for technical variation. We demonstrate that our calls are stable across different types of repeat-rich regions and validate the accuracy of our predictions using orthogonal approaches. ApplyingPopSVto 640 human genomes, we find that low-mappability regions are approximately 5 times more likely to harbor germline CNVs, in stark contrast to the nearly uniform distribution observed for somatic CNVs in 95 cancer genomes. In addition to known enrichments in segmental duplication and near centromeres and telomeres, we also report that CNVs are enriched in specific types of satellite and in some of the most recent families of transposable elements. Finally, using this comprehensive approach, we identify 3,455 regions with recurrent CNVs that were missing from existing catalogs. In particular, we identify 347 genes with a novel exonic CNV in low-mappability regions, including 29 genes previously associated with disease.
Protective coding variants inCFHandPELI3and a variant nearCTRB1are associated with age-related macular degeneration
Authors: Wagner Erin K. , Yu Yi , Souied Eric H. , Seitsonen Sanna , Immonen Ilkka J. , Häppölä Paavo , Raychaudhuri Soumya , Daly Mark J. , Seddon Johanna M. 
Published: December 2015

ABSTRACTAlthough >20 common frequency age-related macular degeneration (AMD) alleles have been discovered with genome-wide association studies, substantial disease heritability remains unexplained. In this study we sought to identify additional variants, both common and rare, that have an association with advanced AMD. We genotyped 4,332 cases and 25,268 controls of European ancestry from three different populations using the Illumina Infinium HumanExome BeadChip. We performed meta-analyses to identify associations with common variants and performed single variant and gene-based burden tests to identify associations with rare variants. Two protective, low frequency, non-synonymous variants A307V inPELI3(odds ratio [OR]=0.14,P=4.3×10−10) and N1050Y inCFH(OR=0.76,Pconditional=1.6×10−11) were significantly associated with a decrease in risk of AMD. Additionally, we identified an enrichment of protective alleles inPELI3using a burden test (OR=0.14). The new variants have a large effect size, similar to rare mutations we reported previously in a targeted sequencing study, which remain significant in this analysis:CFHR1210C (OR=18.82,P=3.5×10−07),C3K155Q (OR=3.27,P=1.5×10−10), andC9P167S (OR=2.04,P=2.8×10−07). We also identified a strong protective signal for a common variant (rs8056814) nearCTRB1associated with a decrease in AMD risk (logistic regression: OR = 0.71, P = 1.8x10−07; Firth corrected OR = 0.64, P = 9.6x10−11). This study supports the involvement of both common and low frequency protective variants in AMD. It also may expand the role of the high-density lipoprotein pathway and branches of the innate immune pathway, outside that of the complement system, in the etiology of AMD.
Inferences from a network to a subnetwork and vice versa under an assumption of symmetry
Authors: Porta Mana P.G.L. , Torre E. , Rostami V. 
Published: December 2015

AbstractThis note summarizes some mathematical relations between the probability distributions for the states of a network of binary units and a subnetwork thereof, under an assumption of symmetry. These relations are standard results of probability theory, but seem to be rarely used in neuroscience. Some of their consequences for inferences between network and subnetwork, especially in connection with the maximum-entropy principle, are briefly discussed. The meanings and applicability of the assumption of symmetry are also discussed.PACS: 87.19.L-,87.19.lo,05.90.+mMSC: 03B48,97K50
Peroxisomes move by hitchhiking on early endosomes using the novel linker protein PxdA
Authors: Salogiannis John , Egan Martin J. , Reck-Peterson Samara L. 
Published: December 2015

AbstractEukaryotic cells use microtubule-based intracellular transport for the delivery of many subcellular cargos, including organelles. The canonical view of organelle transport is that organelles directly recruit molecular motors via cargo-specific adaptors. In contrast to this view, we show here that peroxisomes move by hitchhiking on early endosomes, an organelle that directly recruits the transport machinery. Using the filamentous fungusAspergillus nidulanswe find that hitchhiking is mediated by a novel endosome-associated linker protein, PxdA. PxdA is required for normal distribution and long-range movement of peroxisomes, but not early endosomes or nuclei. Using simultaneous time-lapse imaging we find that early endosome-associated PxdA localizes to the leading edge of moving peroxisomes. We identify a coiled-coil region within PxdA that is necessary and sufficient for early endosome localization and peroxisome distribution and motility. These results present a new mechanism of microtubule-based organelle transport where peroxisomes hitchhike on early endosomes and identify PxdA as the novel linker protein required for this coupling.
Daylight photodynamic therapy with 1.5% 3‐butenyl 5‐aminolevulinate gel as a convenient, effective and safe therapy in acne treatment: A double‐blind randomized controlled trial
Authors: Kwon Hyuck Hoon , Moon Ki Rang , Park Seon Yong , Yoon Ji Young , Suh Dae Hun , Lee Jee Bum 
Published: December 2015

AbstractWhile daylight photodynamic therapy (PDT) is a simpler and more tolerable treatment procedure for both clinicians and patients, it has never been applied for acne treatment. In this study, we evaluated efficacy, safety and histological changes of facial acne after application of the novel variant of 5‐aminolevulinate (ALA)‐ester, 1.5% 3‐butenyl ALA‐bu gel, using daylight only as the potential visible light source. Forty‐six acne patients were randomly assigned to either ALA‐bu or vehicle application group in a double‐blind fashion. Both groups applied the allocated gel to facial acne lesions every other day for 12 weeks. At the final 12 week, both inflammatory and non‐inflammatory acne lesions had decreased significantly by 58.0% and 34.1% in the ALA‐bu group, respectively. Only a few patients expressed mild adverse effects. In the histopathological analysis, attenuated inflammatory cell infiltrations were observed and immunostaining intensities for interleukin‐8, interleukin‐1β, matrix metalloproteinase‐9 and phosphorylated nuclear factor‐κB were reduced concomitantly. Changes of their mRNA expression demonstrated comparable patterns. In conclusion, this ambulatory PDT was effective, very well tolerated and convenient for treating inflammatory acne lesions. Experimental results correlated well with clinical results. This novel regimen would provide a viable option for acne therapy.
Skin testing of gallic acid‐based hair dye in paraphenylenediamine/paratoluenediamine‐reactive patients
Authors: Choi Yunseok , Lee Joon Ho , Kwon Hyok Bu , An Susun , Lee Ai‐Young 
Published: December 2015

AbstractIncidence of allergic contact dermatitis (ACD) to para‐phenylenediamine (PPD)/paratoluenediamine (PTD) hair dyes is increasing. Hair dyes utilizing gallic acid (GA) may be a safe alternative. However, pretesting is recommended. We investigated the contact sensitivity to ingredients of a dye product; GA, monoethanolamine thioglycolate (MT), l‐cystein and ferrous sulfate, and an appropriate pretest method in 31 patients reactive to PPD and/or PTD. An open test was performed with the test dye following the patch test. Subsequently, a use test was performed twice, with a 4‐week interval. One subject showed a positive reaction to ferrous sulfate in the patch test. Another subject reacted to the first compound alone in the open test. Thirteen subjects manifesting cutaneous lesions from previous regular hair dyeing, showed reactions at the first use of the test dye; and six had reactions with reduced severity at the second test. GA and MT are safe for use in ACD patients reactive to PPD and/or PTD. For predicting contact allergy to hair dyes, the open test appeared to be a better pretest method than the patch test.
Contact immunotherapy enhances the therapeutic effects of nivolumab in treating in‐transit melanoma: Two cases reports
Authors: Fujimura Taku , Furudate Sadanori , Kakizaki Aya , Kambayashi Yumi , Haga Takahiro , Hashimoto Akira , Aiba Setsuya 
Published: December 2015

AbstractBecause nivolumab significantly prolongs survival in patients with metastatic melanoma, enhancing its antitumor immune response is of great interest to dermato‐oncologists. In this report, we describe two cases of metastatic melanoma successfully treated with nivolumab in combination with contact immunotherapy, using contact sensitizing agents, such as squaric acid dibutylester and diphencyprone. In addition, immunohistochemical staining supported one of the possible mechanisms of this combination therapy. Our present cases suggested a possible therapy for metastatic melanoma using nivolumab in combination with contact immunotherapy.
Thermal climate‐linked variation in annual survival rate of hibernating rodents: shorter winter dormancy and lower survival in warmer climates
Authors: Turbill Christopher , Prior Samantha 
Published: December 2015

Summary

In seasonal climates, many animals, including a wide range of small mammals, are physiologically capable of prolonged dormancy (˜hibernation), when foraging‐related activity ceases entirely for part the year. Low metabolic rates while dormant minimise energy and water requirements, but the behavioural state of inactivity also reduces exposure to mortality risks, especially predation.

Thermal effects on activity underlie spatial patterns in annual survival rate of ectothermic animals. We hypothesised that, because local thermal conditions affect the duration of mammalian hibernation, positive effects of dormancy on survival could also underlie a negative relationship between spatial variation in thermal climate and annual survival rate among populations of hibernating rodents.

We applied mixed models to test for effects of local thermal climate on collated data of hibernation duration and annual survival rate among populations of hibernating and a representative sample of non‐hibernating rodent species.

Our analyses revealed strong negative effects of mean annual temperature on hibernation duration and adult annual survival rate within hibernating species (β: −8·6 day and −5·1% per 1 °C) but no effect in non‐hibernating rodent species. This thermal climate‐linked pattern in annual survival rate seems to be unique among mammals. A parsimonious explanation lies in the large increase in monthly survival rates during hibernation compared to activity.

The current spatial pattern suggests ongoing climate warming might reduce annual survival rates of hibernating rodents by shortening their hibernation season. Decreased annual survival because of increased activity in warmer climates with shorter winter seasons is an unappreciated mechanism leading to impacts of global warming on animal populations in temperate climates.
One lump or two? Explaining a major latitudinal transition in reproductive allocation in a viviparous lizard
Authors: Schwarzkopf Lin , Caley Michael Julian , Kearney Michael R. 
Published: December 2015

Summary

In viviparous ectotherms, the interval between reproductive bouts is often extended by long gestation times, preventing multiple reproductive events per annum.

We assessed the potential roles of physiological adaptation and environmental constraints in driving an unusual case of geographic variation in life history, in the viviparous lizard (Eulamprus quoyii), which has either one or two reproductive bouts per annum, depending on the geographic location of the population.

Using dynamic energy budget theory, we developed an integrated model of the energetics of growth and reproduction in this lizard, and applied it in conjunction with biophysical calculations of body temperature and activity time across its geographic range to predict reproductive frequency.

Our model indicated that geographic variation in body temperature alone (i.e. environmental constraints) explained the observed pattern of litter frequency, suggesting that differences in energy allocation among populations were unlikely to be a major cause of differences in litter frequency in E. quoyii. It also suggested that natural selection should favour fixation of litter size in the transition zone.