bluuebunny/crossref_metadata_2025_split huggingface dataset:
First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: An exome analysis study
Authors: Hayashi Teruo , Legati Andrea , Nishikawa Tadashi , Coppola Giovanni 
Published: September 2014

AimsPrimary familial brain calcification (PFBC) is a rare disorder characterized by abnormal deposits of calcium in the basal ganglia and cerebellum. PFBC can present with a spectrum of neuropsychiatric symptoms resembling those seen in dementia and schizophrenia. Mutations in a few genes have been identified as causing PFBC: namely, the SLC20A2 gene that codes for the sodium‐dependent phosphate transporter and the PDGFRB gene that codes for the platelet‐derived growth factor receptor β (PDGF‐Rβ). A recent study identified mutations in PDGFB coding for PDGF‐B, the main ligand for PDGF‐Rβ, in six families with PFBC. Here we report the first Japanese family with PFBC carrying a mutation in PDGFB, which causes the substitution of an arginine with a stop codon at amino acid 149 of the PDGF‐B protein (p. Arg149*).MethodsClinical histories and computed tomography scan images were provided. Sanger sequencing was performed for the exome analysis of SLC20A2 and PDGFB genes.ResultsOne family member began to complain of auditory hallucination at 16 years of age and had been treated for schizophrenia. His father suffered from memory and gait disturbances in his late 60s. A computed tomography scan revealed a symmetrical area of calcification over the basal ganglia in both cases. A known mutation in PDGFB (c.445C>T, p.Arg149*) was consistently detected in both PFBC cases by Sanger sequencing. No mutations in SLC20A2 were detected.ConclusionsOur findings suggest that this mutation in PDGF‐B is responsible for PFBC in this Japanese family and that abnormal PDGF signaling may be involved in the pathophysiology of certain psychiatric disorders.
Scalp Hair Heterochromia in a 5‐Year‐Old Child: Rare Somatic Mosaicism?
Authors: Bonamonte Domenico , Filoni Angela , Vestita Michelangelo , Angelini Gianni , Foti Caterina 
Published: September 2014

AbstractScalp hair heterochromia presenting in tufts with no underlying skin changes is rare and can be a sign of somatic mosaicism. We describe the case of a healthy 5‐year‐old boy with this condition.
Relationship Between Skin Barrier Function in Early Neonates and Diaper Dermatitis During the First Month of Life: A Prospective Observational Study
Authors: Yonezawa Kaori , Haruna Megumi , Shiraishi Mie , Matsuzaki Masayo , Sanada Hiromi 
Published: September 2014

AbstractDiaper dermatitis, a common skin problem in newborn infants, is characterized by poor functioning of the skin barrier. This study aimed to elucidate the relationship between skin barrier function in 4‐day‐old infants and the occurrence of diaper dermatitis during the first month of life. We recruited healthy Japanese infants born at 35 weeks of gestation or more. We measured indicators of skin barrier function, namely skin pH and transepidermal water loss, in 4‐day‐old infants on four places on the body. Individual characteristics were recorded from the infants' medical charts. The presence of diaper dermatitis was judged using the diaper rash and erythema scoring scale, which was based on daily recording of the infants' skin condition by their parents. The parents also filled out a questionnaire 1 month after birth regarding stool frequency and certain external factors. The association between diaper dermatitis and skin barrier function was assessed using multiple logistic regression analysis. The analysis included 88 infants. The incidence of diaper dermatitis was 25.0%. After adjusting for stool frequency for 1 month we noted that high pH on the inner arm skin in 4‐day‐old infants increased the risk of diaper dermatitis during the first month of life (adjusted odds ratio 3.35 [95% confidence interval = 1.12, 10.04]). Early neonatal skin pH may predict the risk of diaper dermatitis during the first month of life. Our results may be useful in devising strategies to prevent diaper dermatitis.
Is Phototherapy Useful in the Treatment of Atopic Dermatitis in Asian Children? A 5‐Year Report from Singapore
Authors: Mok Zhun‐Rui , Koh Mark Jean‐Aan , Chong Wei‐Sheng 
Published: September 2014

AbstractThe goal of the current study was to review a cohort of Asian children with atopic dermatitis (AD) treated using phototherapy at a tertiary dermatologic center in Singapore. We performed a retrospective review of patients younger than 16 years old with a clinical diagnosis of AD treated with phototherapy at the National Skin Center, Singapore, over a 5‐year period from 2004 to 2008. Twenty‐five patients were identified who were ages 7 to 15 years at the time they underwent phototherapy, with equal sex distribution. The duration of disease ranged from 2 to 14 years. Most patients had extensive disease involving more than 70% of their body surface area. Fifteen patients were treated with narrowband ultraviolet B (NBUVB) phototherapy, with 10 (66%) showing improvement of symptoms. The duration of therapy was 3 to 30 months (mean 11 mos), with a mean of 60 treatment sessions (range 12–104). Nine patients were treated with combined ultraviolet A (UVA) and NBUVB phototherapy. Five patients (55%) improved, with four having good response and one having mild improvement. The duration of therapy was 1–6 months (mean 3.6 mos), with an average of 22 treatment sessions (range 10–44). Two patients underwent combined UVA/broad‐band UVB (BBUVB) phototherapy. Both had worsening of disease requiring cessation of treatment. Phototherapy is a useful adjunct in the treatment of moderate to severe AD in children. More than half of the patients treated with NBUVB or combined UVA and NBUVB improved with phototherapy, but the usefulness of combined UVA and BBUVB requires further evaluation.
Plica “Neuropathica” in an 11‐Month‐Old Boy
Authors: Verma Shikha , Thakur Binod K. 
Published: September 2014

AbstractPlica neuropathica is an acquired, irreversible tangling and matting of scalp hair presenting as discrete masses. Many cases are reported in the literature, but it has never been reported in an infant. Herein we report the first case of plica neuropathica in an 11‐month‐old.
Structural changes in plastids of developing Splachnum ampullaceum sporophytes and relationship to odour production
Authors: McCuaig B. , Dufour S. C. , Raguso R. A. , Bhatt A. P. , Marino P. 
Published: September 2014

AbstractMany mosses of the family Splachnaceae are entomophilous and rely on flies for spore dispersal. Splachnum ampullaceum produces a yellow‐ or pink‐coloured hypophysis that releases volatile compounds, attracting flies to the mature moss. The biosynthetic sources of the visual and aromatic cues within the hypophysis have not been identified, and may be either symbiotic cyanobacteria or chromoplasts that break down lipids into volatile compounds. Here, we used transmission electron microscopy and gas chromatography‐mass spectrometry (GC‐MS) to investigate the sources of these attractants, focusing on different tissues and stages of maturation. Microscopy revealed an abundance of plastids within the hypophysis, while no symbiotic bacteria were observed. During plant maturation, plastids differentiated from amyloplasts with large starch granules to photosynthetic chloroplasts and finally to chromoplasts with lipid accumulations. We used GC‐MS to identify over 50 volatile organic compounds from mature sporophytes including short‐chain oxygenated compounds, unsaturated irregular terpenoids, fatty acid‐derived 6‐ and 8‐carbon alcohols and ketones, and the aromatic compounds acetophenone and p‐cresol. The hypophysis showed localised production of pungent volatiles, mainly short‐chain fermentation compounds and p‐cresol. Some of these volatiles have been shown to be produced from lipid oxidase degradation of linolenic acid within chromoplasts. However, other compounds (such as cyclohexanecarboxylic acid esters) may have a microbial origin. Further investigation is necessary to identify the origin of fly attractants in these mosses.
Acute effects of MDMA on autonomic cardiac activity and their relation to subjective prosocial and stimulant effects
Authors: Clark Christine M. , Frye Charles G. , Wardle Margaret C. , Norman Greg J. , de Wit Harriet 
Published: September 2014

AbstractMDMA is a stimulant with unique “prosocial” effects, the physiological and pharmacological mechanisms of which are unknown. Here, we examine the relationship of measures of parasympathetic and sympathetic nervous system activity to the prosocial effects of MDMA. Parasympathetic activity was measured using respiratory sinus arrhythmia (RSA) and sympathetic activity using pre‐ejection period (PEP). Over three sessions, 33 healthy volunteers received placebo, 0.75 mg/kg, and 1.5 mg/kg MDMA under counterbalanced, double‐blind conditions, while we measured subjective feelings, RSA, and PEP. RSA and PEP data were available for 26 and 21 participants, respectively. MDMA increased prosocial and stimulated feelings, decreased RSA, and decreased PEP. At 1.5 mg/kg, subjective prosocial effects correlated with stimulated feelings and PEP, but not RSA. This suggests sympathetic, rather than parasympathetic, effects relate to the prosocial effects of MDMA.
Using pretest data to screen low‐reactivity individuals in the autonomic‐based concealed information test
Authors: Matsuda Izumi , Ogawa Tokihiro , Tsuneoka Michiko , Verschuere Bruno 
Published: September 2014

AbstractThe concealed information test (CIT) can be used to assess whether an individual possesses crime‐related information. However, its discrimination performance has room for improvement. We examined whether screening out participants who do not respond distinctively on a pretest improves the diagnosticity of a mock‐crime CIT. Before conducting the CIT, we gave a pretest to 152 participants, 80 of whom were assigned as guilty. Pretest screening significantly improved the diagnostic value of the mock‐crime CIT; however, it also led to a substantial number of undiagnosed participants (33.6%). Pretest screening holds promise, but its application would benefit from dedicated measures for screening out participants.
Group Peer Disagreement
Authors: Carter J. Adam 
Published: September 2014

AbstractA popular view in mainstream social epistemology maintains that, in the face of a revealed peer disagreement over p, neither party should remain just as confident vis‐a‐vis p as she initially was. This ‘conciliatory’ insight has been defended with regard to individual epistemic peers. However, to the extent that (non‐summativist) groups are candidates for group knowledge and beliefs, we should expect groups (no less than individuals) to be in the market for disagreements. The aim here will be to carve out and explore an extension of the conciliatory insight from individual peer disagreement to group peer disagreement; in doing so, I'll raise and address three key problems that face any plausible defence of such a constraint.
Mini Nutritional Assessment Short‐Form predicts exacerbation frequency in patients with chronic obstructive pulmonary disease
Authors: Yoshikawa Masanori , Fujita Yukio , Yamamoto Yoshifumi , Yamauchi Motoo , Tomoda Koichi , Koyama Noriko , Kimura Hiroshi 
Published: September 2014

AbstractBackground and objectiveExacerbations of chronic obstructive pulmonary disease (COPD) are a major cause of morbidity, mortality and reduced health status. Thus, to predict and prevent exacerbations is essential for the management of COPD. The aims of this study were to determine whether nutritional status as assessed by the Mini Nutritional Assessment Short‐Form (MNA‐SF) predicts COPD exacerbation and to compare the ability of the MNA‐SF to predict COPD exacerbation with that of the COPD Assessment Test (CAT).MethodsPulmonary function, the modified Medical Research Council (mMRC) scale and body mass index (BMI) were evaluated in 60 stable patients with COPD (mean age, 72 years; mean forced expiratory volume in 1 s (FEV1), 51.1% predicted). The MNA‐SF and CAT were also completed. Exacerbations were recorded prospectively for 1 year after the initial assessment.ResultsThe mean MNA‐SF score was 11.4 ± 2.4 (well nourished, 51%; at risk, 37%; and malnourished, 12%). The mean CAT score was 14.4 ± 7.5 (low impact, 37%; medium impact, 38%; high impact, 20%; and very high impact, 5%). The CAT scores were significantly associated with the mMRC scale and %FEV1, but were not associated with BMI and the MNA‐SF score. The exacerbation frequency was associated with the MNA‐SF score but not with the CAT score.ConclusionsThe MNA‐SF predicts COPD exacerbation independently of the CAT.
Can non‐invasive positive pressure ventilation prevent endotracheal intubation in acute lung injury/acute respiratory distress syndrome? A meta‐analysis
Authors: Luo Jian , Wang Mao‐yun , Zhu Hui , Liang Bin‐miao , Liu Dan , Peng Xia‐ying , Wang Rong‐chun , Li Chun‐tao , He Chen‐yun , Liang Zong‐an 
Published: September 2014

AbstractThe role of non‐invasive positive pressure ventilation (NIPPV) in acute lung injury (ALI)/acute respiratory distress syndrome (ARDS) is controversial. The aim of this study was to investigate whether NIPPV could prevent endotracheal intubation and decrease mortality rate in patients with ALI/ARDS. Randomized controlled trials (RCT) which reported endotracheal intubation and mortality rate in patients with ALI/ARDS treated by NIPPV were identified in Pubmed, Medline, Embase, Central Cochrane Controlled Trials Register, Chinese National Knowledge Infrastructure, reference lists and by manual searches. Fixed‐ and random‐effects models were used to calculate pooled relative risks. This meta‐analysis included six RCT involving 227 patients. The results showed that endotracheal intubation rate was lower in NIPPV (95% confidence interval (CI): 0.44–0.80, z = 3.44, P = 0.0006), but no significant difference was found either in intensive care unit (ICU) mortality (95% CI: 0.45–1.07, z = 1.65, P = 0.10) or in hospital mortality (95% CI: 0.17–1.58, z = 1.16, P = 0.25). Only two studies discussed the aetiology of ALI/ARDS as pulmonary or extra‐pulmonary, and neither showed statistical heterogeneity (I2 = 0%, χ2 = 0.31, P = 0.58), nor a significant difference in endotracheal intubation rate (95% CI: 0.35–9.08, z = 0.69, P = 0.49). In conclusion, the early use of NIPPV can decrease the endotracheal intubation rate in patients with ALI/ARDS, but does not change the mortality of these patients.
Mapping the Spatial Distribution of a Disease-Transmitting Insect in the Presence of Surveillance Error and Missing Data
Authors: Hong Andrew E. , Barbu Corentin M. , Small Dylan S. , Levy Michael Z. ,   The Chagas Disease Working Group in Arequipa
Published: September 2014

SummaryMaps of the distribution of epidemiological data often ignore surveillance error or possible correlations between missing information and outcomes. We analyse presence–absence data at the household level (12050 points) of a disease-carrying insect in Mariano Melgar, Peru, collected as part of the Arequipan Ministry of Health's efforts to control Chagas disease. We construct a Bayesian hierarchical model to locate regions that are vulnerable to under-reporting due to surveillance error, accounting for variability in participation due to infestation status. The spatial correlation in the data allows us to identify relative inspector sensitivity and to elucidate the relationship between participation and infestation. We show that naive estimates of prevalence would be biased by surveillance error and missingness at random assumptions. We validate our results through simulations and observe how randomized inspector assignments may improve prevalence estimates. Our results suggests that bias due to imperfect observations and missingness at random can be assessed and corrected in prevalence estimates of spatially auto-correlated binary variables.
Resolution of HLA‐B*44:02:01G, ‐DRB1*14:01:01G and ‐DQB1*03:01:01G reveals a high allelic variability among 12 European populations
Authors: Vidan‐Jeras B. , Buhler S. , Dubois V. , Grubic Z. , Ivanova M. , Jaatinen T. , Ligeiro D. , Lokki M.‐L. , Papasteriades C. , Poli F. , Spyropoulou‐Vlachou M. , Tordai A. , Viken M.K. , Wenda S. , Nunes J.M. , Sanchez‐Mazas A. , Tiercy J.‐M. 
Published: September 2014

AbstractWithin the framework of the EU‐funded HLA‐NET action, an analysis of three G‐group alleles, HLA‐B*44:02:01G, DRB1*14:01:01G and DQB1*03:01:01G, was undertaken in 12 European populations. Ambiguities were resolved by polymerase chain reaction‐sequence‐specific amplification (PCR‐SSP) or PCR‐sequence‐based typing (PCR‐SBT) in a total of 5095 individuals. The results of the DRB1*14:01/14:54 ambiguity showed high relative ratios (24–53%) of DRB1*14:01 in Bulgarians, Croatians, Greeks, Italians and Slovenians, contrasting with low ratios (6–13%) in Austrians, Finnish, French, Hungarians, Norwegians and Swiss. Resolution of the B*44:02/44:27 ambiguity showed that B*44:27 had a high relative ratio in Slovenians (25.5%) and Bulgarians (37%) and low in French and Swiss (0.02–1%), and was not observed in Greeks and Italians. The highest relative ratio of DQB1*03:19 was found in Portuguese (11%), by contrast with low ratios (0–3%) in the other five populations. Analysis of the A, B, DRB1 phenotypes and family‐derived haplotypes in 1719 and 403 individuals positive for either HLA‐B*44:02G or DRB1*14:01G ambiguities, respectively, showed some preferential associations, such as A*26∼DRB1*14:01, B*35∼DRB1*14:01, B*38∼DRB1*14:01 and B*44:27∼DRB1*16. Because these ambiguities are located outside the peptide‐binding site, they may not be recognized by alloreactive T‐cells. However, because of strong linkage disequilibrium (LD), the DRB1*14:01 vs DRB1*14:54 and the B*44:02 vs B*44:27 mismatches are associated to DRB3‐, and C‐mismatches, respectively. These results are informative for algorithms searching unrelated hematopoietic stem cell donors. For B*44:27‐positive patients, searches are expected to be more successful when requesting donors from Southeastern‐European ancestry. Furthermore, the introduction of human leukocyte antigen (HLA)‐typing strategies that allow resolving exon 4 (for class I) and exon 3 (for class II) polymorphisms can be expected to contribute significantly to population genetics studies.
Interferon‐gamma gene polymorphism +874 A/T is associated with an increased risk of cytomegalovirus infection among Hispanic renal transplant recipients
Authors: Vu D. , Shah T. , Ansari J. , Sakharkar P. , Yasir Q. , Naraghi R. , Hutchinson I. , Min D. 
Published: September 2014

AbstractBackgroundCytomegalovirus (CMV) is the most common cause of viral infection, causing morbidity and mortality among renal transplant recipients (RTRs). Cytokines such as tumor necrosis factor‐alpha (TNF‐α), interleukin‐10 (IL‐10), and interferon‐gamma (IFN‐γ) have been shown to possess antiviral properties, and their polymorphisms are associated with disease outcome. The aim was to investigate the association of gene polymorphisms in IL‐10, IFN‐γ, and TNF‐α with CMV infection in RTRs.MethodsIL‐10 −1082 A>G, −592 A>C; TNF‐α −308 A>G; and IFN‐γ +874 A>T gene polymorphisms were studied in 247 Hispanic RTRs (52 RTRs with CMV infection and 195 without CMV infection), using DNA‐based polymerase chain reaction with sequence‐specific primers and restriction.ResultsMedian time to CMV infection was 8 months, with a mean peak CMV viral load of 25,314 copies/mL. Patients with donor‐positive/recipient‐negative (D+/R−) serostatus were found to be associated with a high risk of CMV infection (P = 0.001). A statistically significant correlation was found between IFN‐γ +874 A>T polymorphism and the risk of CMV infection. The IFN‐γ +874 AA genotype was associated with a 3.4‐fold increased risk for the CMV‐infected group compared to the non‐CMV group (odds ratio = 3.4, 95% confidence interval = 1.24–9.34, P = 0.01). The association was independently significant in multiple logistic regression (P = 0.01), along with serologic status D+/R−, acute rejection, and anti‐thymocyte globulin induction. The allelic as well as genotypic frequencies of TNF‐α and IL‐10 did not significantly differ between the CMV‐infection group and the control group. Individuals with IFN‐γ +874 AT and AA genotypes exhibited higher risk of allograft loss.ConclusionThis study suggested that RTRs with variant homozygous IFN‐γ AA genotype were at risk of CMV infection, whereas the high producer IFN‐γ +874 TT genotype appears to be associated with lower risk of CMV infection.
Transfusion and component characteristics are not associated with allergic transfusion reactions to apheresis platelets
Authors: Savage William J. , Tobian Aaron A.R. , Savage Jessica H. , Hamilton Robert G. , Borge P. Dayand , Kaufman Richard M. , Ness Paul M. 
Published: September 2014

BackgroundTransfusion‐related characteristics have been hypothesized to cause allergic transfusion reactions (ATRs) but they have not been thoroughly studied. The primary objective of this study is to evaluate the associations of infusion rate, infusion volume, ABO mismatching, component age, and pretransfusion medication with the incidence and severity of ATRs. A secondary objective is to compare the risk of these attributes relative to the previously reported risk factor for aeroallergen sensitization in transfusion recipients, as measured by an aeroallergen‐specific immunoglobulin (Ig)E antibody screen.Study Design and MethodsClinical and transfusion‐related data were collected on subjects with reported ATRs and uneventful (control) apheresis platelet (PLT) transfusions over a combined 21‐month period at two academic medical centers. Control transfusions were selected as the next uneventful transfusion after an ATR was reported. Logistic regression, Mann‐Whitney, and t tests were used to assess associations with ATRs. Previously reported aeroallergen‐specific IgE screening data were incorporated into a multivariable logistic regression.ResultsA total of 143 ATRs and 61 control transfusions were evaluated among 168 subjects, ages 2 to 86 years. Infusion rate, infusion volume, ABO mismatching, component age, and pretransfusion medication showed no significant association with ATRs (p > 0.05). Neither infusion rate nor infusion volume increased the risk of anaphylaxis versus mucocutaneous‐only ATRs. Aeroallergen sensitization has previously been associated with ATRs. After transfusion‐related covariates were controlled for, aeroallergen sensitization remained significantly associated with ATRs (odds ratio, 2.68; 95% confidence interval, 1.26‐5.69).ConclusionsTransfusion‐ and component‐specific attributes are not associated with ATRs. An allergic predisposition in transfusion recipients is associated most strongly with ATR risk.