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The documentation and understanding of variations in the Earth's magnetic field through time is fundamental for several disciplines, but current geomagnetic models rely on datasets heavily biased toward the mid‐ and high northern latitudes. The African continent and surrounding islands and oceans are particularly underrepresented. Here, we present a new record of paleo‐secular variation (PSV) of the inclinations over the last 23 ka from Lake Chala, situated at 3°S near Mt Kilimanjaro in eastern equatorial Africa. This groundwater‐fed crater lake is characterized by a high sedimentation rate (ca. 1 cm/10 years) and a particularly well‐constrained age model based on 210Pb and 14C dating. The magnetic mineralogy of the sediments is tested with rock magnetic analyses. The Lake Chala inclination record shows four highs and lows over 20 ka and compares well with that of Lake Malawi (10°S) between 20 and 16.2 ka, and from 9.8 to 2.6 ka. This record is linked to PSV records at Lakes Victoria and Malawi using a sequence slotting technique to generate a composite PSV model for east Africa. Analyzed at best‐possible resolutions up to 200 years, the Lake Chala PSV record not only represents an important contribution to improve our understanding of local and global features of the Earth's magnetic field. It also expands the utility of paleomagnetism as a key tool for dating and correlation both for archeological sites throughout East Africa and the many volcanoes, active or dormant, of the East African Rift System. Plain Language Summary: The understanding of the behavior of the Earth's Magnetic field in the geological past is based on an even spatial and temporal distribution of data collections. Nonetheless, data from large areas, such as from the African continent, remain sparse. In this study, we present new data from Lake Chala in equatorial East Africa, near Mount Kilimanjaro. The new inclination data are measured in lacustrine sediments covering the last 23 ka. We combine the data from Lake Chala with other data from Lake Victoria and Lake Malawi to produce a composite record for east African Lakes, using sequence slotting which improves the coherence between the records, whilst still constrained by the sediment age models. The composite record, centered on Lake Chala, improves our understanding of how the Earth's magnetic field changed in the recent past and can serve as an independent tool for dating nearby archeological sites as well as volcanic deposits from the African Rift emplaced in the last 23 ka. Key Points: Lake Chala contains an exceptionally well‐dated paleosecular variation record for east AfricaSequence slotting is used to refine a match to other secular variation records from east African lakesA composite paleosecular variation for equatorial east Africa is produced utilizing the combined set of control dates and magnetic records [ABSTRACT FROM AUTHOR]

Background: Stroke is a significant global cause of mortality and longterm disability, potentially influenced by infections that heighten systemic inflammation and thrombotic events. The full impact of influenza vaccination on stroke remains uncertain. This systematic review and meta-analysis aimed to investigate the association between influenza immunization and stroke incidence. Methods: We searched for randomized controlled trials (RCTs), case-control, and cohort studies published in PubMed/Medline, Cochrane-Central-Register-of-Controlled-Trials (CENTRAL), and Embase until 5 December 2022, and identified articles investigating the effect of influenza vaccine on stroke occurrence. All articles were screened by two independent reviewers. We performed a meta-analysis to investigate the risk of stroke occurrence in vaccinated vs. unvaccinated individuals. The random-effects model was used in all statistical analyses. Results: Among the 26 articles meeting our criteria, 10 were retrospective cohort studies, 9 were case-control studies, 3 were prospective cohort studies, 3 were RCTs and 1 case-series. Overall, the studies showed a significant decrease in the risk of stroke incidence/hospitalization among vaccinated patients (OR = 0.81, 95% CI [0.77-0.86], p = 0.00001). Furthermore, studies showed flu vaccine decreases the occurrence of mortality among stroke patients (OR = 0.50, 95% CI [0.37-0.68], p = 0.00001). Sub-group analysis revealed significant protective effect for patients with specific comorbidities including atrial fibrillation (OR = 0.68, 95% CI [0.57-0.81], p = 0.0001), diabetes (OR = 0.76, 95% CI [0.66-0.87], p = 0.0001), Chronic obstructive pulmonary disease (OR = 0.70, 95% CI [0.61-0.81], p = 0.00001), and hypertension (OR = 0.76, 95% CI [0.70-83], p = 0.00001). Conclusion: The current meta-analysis further supports prior findings that influenza vaccination reduces stroke risk, particularly in patients with comorbidities. Guidelines should promote vaccination for at-risk individuals. [ABSTRACT FROM AUTHOR]

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This article presents improvements of large-signal RF power performance at Ka-band of gallium nitride high electron mobility transistors (HEMTs) utilizing a scandium aluminum nitride barrier. Three samples were fabricated and measured having different passivation schemes, including gallium nitride, silicon nitride, and aluminum gallium nitride. The pinning of the Fermi level against the valence band reduced the gain and output power density of the gallium nitride passivated device, resulting in 4.5 W/mm at a drain bias of 32 V. With silicon nitride alone as the passivation, dc/RF dispersion was reduced, and gain increased significantly, boosting the output power for this device to 8.0 W/mm at 28 V, though at the cost of a reduced breakdown voltage. Adding an epitaxial aluminum gallium nitride passivating layer increased the maximum bias voltage that the devices can operate at compared to devices with the silicon nitride passivation. When biased at 40 V, the output power of the devices reached 10.8 W/mm at 30 GHz. These devices show the importance of the passivation design to large-signal RF performance in scandium aluminum nitride-based HEMTs and will help guide further improvements. [ABSTRACT FROM AUTHOR]

We report the characterization of anthropogenic magnetic particulate matter (MPM) collected on leaves from roadside Callistemon (bottlebrush) trees from Lahore, Pakistan, and on known sources of traffic‐related particulates to assess the potential of first‐order reversal curve (FORC) diagrams to discriminate between different sources of anthropogenic magnetic particles. Magnetic measurements on leaves indicate the presence of surface‐oxidized magnetite spanning the superparamagnetic (<30 nm) to single domain (∼30–70 nm) to vortex size range (∼70–700 nm). Fe‐bearing particles are present both as discrete particles on the surface of larger mineral dust or carbonaceous particles and embedded within them, such that their aerodynamic sizes may be decoupled from their magnetic grain sizes. FORC diagrams of brake‐pad residue specimens show a distinct combination of narrow central ridge, extending from 0 to 200 mT, and a low‐coercivity, vertically spread signal, attributed to vortex and multi‐vortex behavior of metallic Fe. This is in agreement with scanning electron microscopy results that show the presence of metallic as well as oxidized Fe. Exhaust‐pipe residue samples display a more conventional "magnetite‐like" signal comprising a lower coercivity central ridge (0–80 mT) and a tri‐lobate signal attributed to vortex state and/or magnetostatic interactions. The FORC signatures of leaf samples combine aspects of both exhaust residue and brake‐pad endmembers, suggesting that FORC fingerprints have the potential to identify and quantify the relative contributions from exhaust and non‐exhaust (brake‐wear) emissions. Such measurements may provide a cost‐effective way to monitor the changing contribution; of future particulate emissions as the vehicle fleet is electrified over the coming years. Key Points: Microscopy and magnetic measurements of tree leaves indicate different sources of anthropogenic particulate air pollutionFirst‐order reversal curves can potentially be used as a proxy to identify particulate sourcesHigh concentrations of Fe‐bearing ultrafine particles found in brake‐pad and exhaust‐pipe residue specimens [ABSTRACT FROM AUTHOR]

Pitt-Hopkins syndrome (PTHS) is a rare autism spectrum-like disorder characterized by intellectual disability, developmental delays, and breathing problems involving episodes of hyperventilation followed by apnea. PTHS is caused by functional haploinsufficiency of the gene encoding transcription factor 4 (Tcf4). Despite the severity of this disease, mechanisms contributing to PTHS behavioral abnormalities are not well understood. Here, we show that a Tcf4 truncation (Tcf4tr/+) mouse model of PTHS exhibits breathing problems similar to PTHS patients. This behavioral deficit is associated with selective loss of putative expiratory parafacial neurons and compromised function of neurons in the retrotrapezoid nucleus that regulate breathing in response to tissue CO2/H+. We also show that central Nav1.8 channels can be targeted pharmacologically to improve respiratory function at the cellular and behavioral levels in Tcf4tr/+ mice, thus establishing Nav1.8 as a high priority target with therapeutic potential in PTHS. Disordered breathing is a hallmark of Pitt-Hopkins syndrome (PTHS), yet little is known regarding how loss of Tcf4 (gene associated with PTHS) affects development and function of respiratory neurons. Here, the authors show that parafacial respiratory neurons are selectively disrupted in a mouse model of PTHS, and central Nav1.8 channels can be targeted to improve PTHS-associated behavior abnormalities. [ABSTRACT FROM AUTHOR]

Magnetic signals in deep‐sea sediments have the potential to unravel past continental environmental changes, via changes in primary terrigenous magnetic supply, but also record past marine environmental conditions, via in situ formation of secondary magnetic minerals, particularly when complemented by independent proxies. By combining environmagnetic, geochemical, and siliciclastic grain size data, we investigated marine sediment core GL‐1090 (24.92°S, 42.51°W, 2,225 m water depth) aiming to unravel changes in terrigenous sediment input and bottom water conditions during the last ∼184 ka at the western South Atlantic middepth. The Al/Si, Fe/κ and siliciclastic grain size data show that terrigenous sediments at this core location derived from the Plata River (southeastern South America). This material was transported northwards by the Brazilian Coastal Current and their delivery to our core site was modulated by sea‐level oscillations. Periods of low sea‐level were characterized by the input of coarser and more abundant terrigenous sediments. Environmagnetic parameters indicate significant downcore variations in the magnetic domain state, which we interpret as changes in the content of biogenic magnetite following glacial‐interglacial cycles. Coeval negative excursions in magnetic grain size and benthic δ13C suggests that concentrations of single domain magnetite (possibly magnetotactic bacterial magnetite) vary in response to middepth water ventilation. We suggest that reduced ventilation in the middepth western South Atlantic bottom waters during peak glaciations triggered a decrease in the production of biogenic magnetite. Peak glaciations were, in turn, linked with increases in the residence time of North Atlantic Deep Water (or its glacial counterpart). Key Points: Multi‐proxy approach points to the Plata River as the main lithogenic sediment source to tropical SE South American continental margin, modulated by sea‐levelReduced biogenic magnetite formation coeval with negative benthic δ13C anomalies during glaciationsBiogenic magnetite formation hampered by decreased bottom water ventilation during glaciations [ABSTRACT FROM AUTHOR]

Naphtha catalytic reforming process using bimetallic platinum and titanium loaded on nano synthesized HY zeolite was investigated for the product octane number enhancement. The activity of five samples of the prepared catalyst with different bimetallic loading of 0.13, 0.25 wt% Pt and 0.75, 1, 2.2 wt% Ti were investigated for Iraqi heavy naphtha catalytic reforming at the temperature range of 490, 500 and 510 °C and pressure of 10 bar in a packed bed pilot plant reactor. The best result of the research octane number was 84 for reformate product using the sample of 0.13% Pt-0.75% Ti%/HY zeolite at temperature 510 °C and 10 bar achieving 47% increase. All samples of the prepared catalyst showed a good stability during the operation at severe conditions and the maximum carbon content was about 9% due to the deposition of coke precursor on the catalyst surface. The reformate yield was investigated for all catalyst samples under 10 and 20 bars and the same range of temperature and ranged from 89 to 94%. These results are encouraging for future possible replacement of the conventional catalyst by the local synthetic zeolite. Octane number was correlated on the basis of constituent’s boiling points. The maximum absolute error between the experimental and predicted octane number was about 3 and 5% using 10 and 20 bar respectively. [ABSTRACT FROM AUTHOR]

Objectives: There are several types of metaphyseal chondrodysplasia and various clinical types have been differentiated. The Schmid type of metaphyseal chondrodysplasia is the most common. Diffuse metaphyseal flaring, irregularity, and growth plate widening, which are most severe in the knees, are the most striking radiological features of this disease. The Schmid type of metaphyseal dysostosis is characterized by failure of normal mineralization of the zone of provisional calcification, leading to widened physes and enlarged knobby metaphyses, effectively causing shortening of the tubular bones, splaying of the metaphyses, coxa vara, and bow legs. Orthopaedic interventions were primarily performed on the lower extremities. Methods: Twelve children (seven girls and five boys) aged 7–10 years were enrolled in this study. Moderate short stature was a uniform feature associated with predominant involvement of the proximal femora and bow legs resulted in the development of angular deformities. A waddling gait was a consequence of coxa vara in eight children. Valgus osteotomy of the proximal femur was planned after physeal closure for the group of children with coxa vara. Hemiepiphysiodesis was performed to re‐align the genu varum in three children. Results: Other forms of metaphyseal dysostosis were ruled based on full clinical and radiographic phenotypes, with confirmation through molecular pathology. Mutations in the COL10A1 gene located on chromosome 6q21‐q22.3 were confirmed. Re‐alignment was accomplished in our group of patients. Conclusion: The most striking clinical features of Schmid metaphyseal chondrodysplasia which appear within the first 2–3 years of life are: moderate short limbs and short stature, a waddling gait, and increasing shortness of stature with age. The Schmid type of metaphyseal chondrodysplasia is a disorder that arises from defective type X collagen, which is typically found in the hypertrophic zone of the physes. Moderate short stature and a waddling gait associated with pain are the most common clinical presentations. Osteotomies to correct bow legs are sometimes combined with lengthening procedures. Recurrence of the deformities with growth is not uncommon; therefore, hemiepiphysiodesis or stapling might be indicated in some cases. [ABSTRACT FROM AUTHOR]

Introduction: As prostate artery embolisation (PAE) becomes an established treatment for benign prostatic obstruction, factors predicting good symptomatic outcome remain unclear. Pre-embolisation prostate size as a predictor is controversial with a handful of papers coming to conflicting conclusions. We aimed to investigate if an association existed in our patient cohort between prostate size and clinical benefit, in addition to evaluating percentage volume reduction as a predictor of symptomatic outcome following PAE.Materials or Methods: Prospective follow-up of 86 PAE patients at a single institution between June 2012 and January 2016 was conducted (mean age 64.9 years, range 54-80 years). Multiple linear regression analysis was performed to assess strength of association between clinical improvement (change in IPSS) and other variables, of any statistical correlation, through Pearson's bivariate analysis.Results: No major procedural complications were identified and clinical success was achieved in 72.1% (n = 62) at 12 months. Initial prostate size and percentage reduction were found to have a significant association with clinical improvement. Multiple linear regression analysis (r2 = 0.48) demonstrated that percentage volume reduction at 3 months (r = 0.68, p < 0.001) had the strongest correlation with good symptomatic improvement at 12 months after adjusting for confounding factors.Conclusion: Both the initial prostate size and percentage volume reduction at 3 months predict good symptomatic outcome at 12 months. These findings therefore aid patient selection and counselling to achieve optimal outcomes for men undergoing prostate artery embolisation. [ABSTRACT FROM AUTHOR]

Background:Doctors’ continuing professional development (CPD) training needs are known to be strongly influenced by national and local contextual characteristics. Given the changing national demographic profile and government-mandated changes to primary care health care provision, this study aimed to investigate Irish General Practitioners’ (GPs) perceptions of, and preferences for, current and future CPD programmes. Methods:A cross-sectional questionnaire, using closed- and open-ended questions, was administered to Irish GPs, focusing on training needs analysis; CPD course content; preferred format and the learning environment. Results:The response rate was 719/1000 (71.9%). GPs identified doctor-patient communication as the most important and best-performed GP skill. Discrepancies between perceived importance (high) and current performance (low) emerged for time/workload management, practice finance and business skills. GPs identified clinically-relevant primary care topics and non-clinical topics (stress management, business skills, practice management) as preferences for future CPD. Flexible methods for CPD delivery were important. Gender and practice location (urban or rural) significantly influenced CPD participation and future course preference. Conclusion:The increasing diversity of services offered in the Irish primary care setting, in both clinical and non-clinical areas, should be tailored based to include GP practice location and structure. [ABSTRACT FROM AUTHOR]

Thin film composites (TFCs) of poly(2-hydroxyethyl methacrylate) (PHEMA) and poly(methyl methacrylate) (PMMA) chain-tethered poly(vinylidene fluoride)-poly(dimethylsiloxane) (PVDF-PDMS) were prepared as a gas separation membrane. PDMS was coated on the PVDF support using a dip coating method. PHEMA and PMMA were then grafted on PVDF-PDMS substrate by atom transfer radical polymerization. The PVDF-PDMS-PHEMA and PVDF-PDMS-PMMA trilayer membranes were studied by attenuated total reflection Fourier transform infrared spectroscopy, scanning electron microscopy, atomic force microscopy, water contact angle measurement, and X-ray photoelectron spectroscopy. The results of separation tests indicated that the CO/N selectivity of PVDF-PDMS-PHEMA and PVDF-PDMS-PMMA TFCs increased by ∼2 and ∼3 times, respectively, compared to the solvent-extracted PVDF-PDMS support. [ABSTRACT FROM AUTHOR]

Matrix metalloproteinases (MMPs), which degrade extracellular proteins as part of a variety of physiological processes, and their inhibitors have been implicated in the dental caries process. Here we investigated 28 genetic variants spanning the MMP10, MMP14, and MMP16 genes to detect association with dental caries experience in 13 age- and race-stratified (n=3,587) samples from 6 parent studies. Analyses were performed separately for each sample, and results were combined across samples by meta-analysis. Two SNPs (rs2046315 and rs10429371) upstream of MMP16 were significantly associated with caries in an individual sample of white adults and via meta-analysis across 8 adult samples after gene-wise adjustment for multiple comparisons. Noteworthy is SNP rs2046315 (p=8.14×10-8) association with caries in white adults. This SNP was originally nominated in a genome-wide-association study (GWAS) of dental caries in a sample of white adults and yielded associations in a subsequent GWAS of surface level caries in white adults as well. Therefore, in our study, we were able to recapture the association between rs2046315 and dental caries in white adults. Although we did not strengthen evidence that MMPs 10, 14, and 16 influence caries risk, MMP16 is still a likely candidate gene to pursue. [ABSTRACT FROM AUTHOR]

Here, we investigate the genetic basis of human memory in healthy individuals and the potential role of two polymorphisms, previously implicated in memory function. We have explored aspects of retrospective and prospective memory including semantic, short term, working and long-term memory in conjunction with brain derived neurotrophic factor (BDNF) and tumor necrosis factor-alpha (TNF-α). The memory scores for healthy individuals in the population were obtained for each memory type and the population was genotyped via restriction fragment length polymorphism for the BDNF rs6265 (Val66Met) SNP and via pyrosequencing for the TNF-α rs113325588 SNP. Using univariate ANOVA, a significant association of the BDNF polymorphism with visual and spatial memory retention and a significant association of the TNF-α polymorphism was observed with spatial memory retention. In addition, a significant interactive effect between BDNF and TNF-α polymorphisms was observed in spatial memory retention. In practice visual memory involves spatial information and the two memory systems work together, however our data demonstrate that individuals with the Val/Val BDNF genotype have poorer visual memory but higher spatial memory retention, indicating a level of interaction between TNF-α and BDNF in spatial memory retention. This is the first study to use genetic analysis to determine the interaction between BDNF and TNF-α in relation to memory in normal adults and provides important information regarding the effect of genetic determinants and gene interactions on human memory. [ABSTRACT FROM AUTHOR]

Several aspects of social and emotional functioning are abnormal in people with eating disorders. The aim of the present study was to measure facial emotional expression in patients with eating disorders and healthy controls whilst playing a therapeutic video game (Playmancer) designed to train individuals in emotional regulation. Participants were 23 ED patients (11 AN, 12 BN) and 11 HCs. ED patients self reported more anger at baseline but expressed less facial expression of anger during the Playmancer game. The discrepancy between self-report and non-verbal expression may lead to problems in social communication. Copyright © 2012 John Wiley & Sons, Ltd and Eating Disorders Association. [ABSTRACT FROM AUTHOR]

Several aspects of social and emotional functioning are abnormal in people with eating disorders. The aim of the present study was to measure facial emotional expression in patients with eating disorders and healthy controls whilst playing a therapeutic video game (Playmancer) designed to train individuals in emotional regulation. Participants were 23 ED patients (11 AN, 12 BN) and 11 HCs. ED patients self reported more anger at baseline but expressed less facial expression of anger during the Playmancer game. The discrepancy between self-report and non-verbal expression may lead to problems in social communication. Copyright © 2012 John Wiley & Sons, Ltd and Eating Disorders Association. [ABSTRACT FROM AUTHOR]

Investigations into migraine genetics have suggested that susceptibility loci exist on the X chromosome. These reports are supported by evidence that demonstrates male probands as having a higher proportion of affected first-degree relatives as well as the female preponderance of 3:1 that the disorder displays. We have previously implicated the Xq24-28 locus in migraine using two independent multigenerational Australian pedigrees that demonstrated excess allele sharing at the Xq24, Xq27 and Xq28 loci. Here, we expand this work to investigate a further six independent migraine pedigrees using 11 microsatellite markers spanning the Xq27-28 region. Furthermore, 11 candidate genes are investigated in an Australian case-control cohort consisting of 500 cases and 500 controls. Microsatellite analysis showed evidence of excess allele sharing to the Xq27 marker DXS8043 (LOD* 1.38 P = 0.005) in MF879 whilst a second independent pedigree showed excess allele sharing to DXS8061 at Xq28 (LOD* 1.5 P = 0.004). Furthermore, analysis of these key markers in a case control cohort showed significant association to migraine in females at the DXS8043 marker (T1 P = 0.009) and association with MO at DXS8061 (T1 P = 0.05). Further analysis of 11 key genes across these regions showed significant association of a three-marker risk haplotype in the NSDHL gene at Xq28 ( P = 0.0082). The results of this study add further support to the presence of migraine susceptibility loci on chromosome Xq27 and Xq28 as well as point to potential candidate genes in the regions that warrant further investigation. [ABSTRACT FROM AUTHOR]

We conducted data-mining analyses using the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) and molecular genetics of schizophrenia genome-wide association study supported by the genetic association information network (MGS-GAIN) schizophrenia data sets and performed bioinformatic prioritization for all the markers with P-values 0.05 in both data sets. In this process, we found that in the CMYA5 gene, there were two non-synonymous markers, rs3828611 and rs10043986, showing nominal significance in both the CATIE and MGS-GAIN samples. In a combined analysis of both the CATIE and MGS-GAIN samples, rs4704591 was identified as the most significant marker in the gene. Linkage disequilibrium analyses indicated that these markers were in low LD (3 828 611-rs10043986, r2=0.008; rs10043986-rs4704591, r2=0.204). In addition, CMYA5 was reported to be physically interacting with the DTNBP1 gene, a promising candidate for schizophrenia, suggesting that CMYA5 may be involved in the same biological pathway and process. On the basis of this information, we performed replication studies for these three single-nucleotide polymorphisms. The rs3828611 was found to have conflicting results in our Irish samples and was dropped out without further investigation. The other two markers were verified in 23 other independent data sets. In a meta-analysis of all 23 replication samples (family samples, 912 families with 4160 subjects; case-control samples, 11 380 cases and 15 021 controls), we found that both markers are significantly associated with schizophrenia (rs10043986, odds ratio (OR)=1.11, 95% confidence interval (CI)=1.04-1.18, P=8.2 × 10−4 and rs4704591, OR=1.07, 95% CI=1.03-1.11, P=3.0 × 10−4). The results were also significant for the 22 Caucasian replication samples (rs10043986, OR=1.11, 95% CI=1.03-1.17, P=0.0026 and rs4704591, OR=1.07, 95% CI=1.02-1.11, P=0.0015). Furthermore, haplotype conditioned analyses indicated that the association signals observed at these two markers are independent. On the basis of these results, we concluded that CMYA5 is associated with schizophrenia and further investigation of the gene is warranted. [ABSTRACT FROM AUTHOR]

A recent genome-wide association study (GWAS) reported evidence for association between rs1344706 within ZNF804A (encoding zinc-finger protein 804A) and schizophrenia (P=1.61 × 10−7), and stronger evidence when the phenotype was broadened to include bipolar disorder (P=9.96 × 10−9). In this study we provide additional evidence for association through meta-analysis of a larger data set (schizophrenia/schizoaffective disorder N=18 945, schizophrenia plus bipolar disorder N=21 274 and controls N=38 675). We also sought to better localize the association signal using a combination of de novo polymorphism discovery in exons, pooled de novo polymorphism discovery spanning the genomic sequence of the locus and high-density linkage disequilibrium (LD) mapping. The meta-analysis provided evidence for association between rs1344706 that surpasses widely accepted benchmarks of significance by several orders of magnitude for both schizophrenia (P=2.5 × 10−11, odds ratio (OR) 1.10, 95% confidence interval 1.07-1.14) and schizophrenia and bipolar disorder combined (P=4.1 × 10−13, OR 1.11, 95% confidence interval 1.07-1.14). After de novo polymorphism discovery and detailed association analysis, rs1344706 remained the most strongly associated marker in the gene. The allelic association at the ZNF804A locus is now one of the most compelling in schizophrenia to date, and supports the accumulating data suggesting overlapping genetic risk between schizophrenia and bipolar disorder. [ABSTRACT FROM AUTHOR]

A recent genome-wide association study reported association between schizophrenia and the ZNF804A gene on chromosome 2q32.1. We attempted to replicate these findings in our Irish Case–Control Study of Schizophrenia (ICCSS) sample (N=1021 cases, 626 controls). Following consultation with the original investigators, we genotyped three of the most promising single-nucleotide polymorphisms (SNPs) from the Cardiff study. We replicate association with rs1344706 (trend test one-tailed P=0.0113 with the previously associated A allele) in ZNF804A. We detect no evidence of association with rs6490121 in NOS1 (one-tailed P=0.21), and only a trend with rs9922369 in RGRIP1L (one-tailed P=0.0515). On the basis of these results, we completed genotyping of 11 additional linkage disequilibrium-tagging SNPs in ZNF804A. Of 12 SNPs genotyped, 11 pass quality control criteria and 4 are nominally associated, with our most significant evidence of association at rs7597593 (P=0.0013) followed by rs1344706. We observe no evidence of differential association in ZNF804A on the basis of family history or sex of case. The associated SNP rs1344706 lies in ∼30 bp of conserved mammalian sequence, and the associated A allele is predicted to maintain binding sites for the brain-expressed transcription factors MYT1l and POU3F1/OCT-6. In controls, expression is significantly increased from the A allele of rs1344706 compared with the C allele. Expression is increased in schizophrenic cases compared with controls, but this difference does not achieve statistical significance. This study replicates the original reported association of ZNF804A with schizophrenia and suggests that there is a consistent link between the A allele of rs1344706, increased expression of ZNF804A and risk for schizophrenia. [ABSTRACT FROM AUTHOR]

The sources and fluxes of sediment to the Great Barrier Reef lagoon from north-eastern Australian rivers have been the subject of much concern and study, with the large catchments of the Burdekin and Fitzroy Rivers thought to be the key sources at present. Here, the utility of newly developed magnetic ‘fingerprinting’ methods for identifying sediment provenance, both onshore and offshore, and in association with individual large flood events, is investigated. Within the Burdekin catchment, sediments are mobilized from different subcatchments by runoff generated by intense, localized rainfall events. Magnetic measurements were made on untreated and acid-treated samples of river channel sediments within the Burdekin River subcatchments and from the estuarine and inner shelf depocentres of Burdekin River sediments. The acid treatment removes all discrete magnetic particles and coatings, and leaves magnetic inclusions (protected within host silicate grains) as the basis of the measured magnetic signature of a sample. The magnetic properties of the acid-treated samples display statistically distinct sediment provenance groupings. Sand samples from the Upper Burdekin River appear magnetically distinct from samples from tributaries of the Burdekin (e.g. Hann Creek, Fanning River) and also from nearby coastal rivers, including the Haughton. Suspended sand samples from a Burdekin flood event in 2000 appear to have a different source compared with those from floods in 1998 and 1999. Comparisons of the terrestrial, acid-treated sand fractions with the same, acid-treated, sand-size fractions from transects taken offshore suggest that the surface sediments in Upstart Bay and Bowling Green Bay have different sources. Some of these sources are as yet unidentified but may represent the unsampled, lower-discharge south-western Burdekin subcatchments, and/or along-shore drift of sand from the south, perhaps even from the Fitzroy River, over millennial timescales of cyclone pumping. The magnetic inclusion method precludes any obfuscation or confounding of sediment source, which might arise from hydraulic sorting and/or post-depositional magnetic diagenesis or authigenesis. [ABSTRACT FROM AUTHOR]

Oxygen isotope records from stalagmites in caves in southern China, interpreted as proxy rainfall records reflecting the intensity of the East Asian summer monsoon, indicate gradual monsoon weakening for the last ∼9000 years, as also documented for the Indian monsoon. Coupled with high-precision dating, the speleothem proxy records have been used to test monsoon links with orbital forcing, solar changes, iceberg discharges in the North Atlantic, ocean currents and atmospheric methane. However, these 'benchmark' cave records do not match other published, dated E Asian proxy rainfall records (specifically here, independently calibrated rainfall records from loess/palaeosol magnetic properties, and cave oxygen isotope intercomparisons), which show variable E Asian monsoon intensity through the entire Holocene. The strong correlation of the cave records with the extraregional Indian monsoon record yet their mismatch with these other dated Chinese rainfall records might be reconciled if the speleothem isotope variations reflect not changes in Holocene rainfall amount but in rainfall source. Declining Holocene influence of isotopically lighter, Indian monsoon-sourced moisture over China would have resulted in increasing proportions of isotopically heavier rainfall, sourced from the more oceanic E Asian monsoon. Individual speleothems may thus regionally record Holocene changes in Indian monsoon intensity and isotopic influence. Conversely, the other Chinese proxy records described here reflect changes in rainfall amount, and thus in E Asian summer monsoon intensity. For the Holocene, the E Asian and the Indian monsoon responses to orbital forcing are likely to have differed, specifically due to E Asian internal feedbacks and the seasonal contrasts between the two monsoon systems. [ABSTRACT FROM AUTHOR]

Objective: To integrate findings from previous cephalometric studies comparing the craniofacial complex of unaffected parents with cleft lip with or without cleft palate (CL/P) children to controls with no history of the disease.Design: Meta-analysis of case-control cephalometric data.Inclusion Criteria: Studies were selected if the unaffected parents of children with CL/P were included and were not combined with parents of children with isolated CP; quantitative data were obtained through cephalometry; the cephalometric variables used were not unique to a study; a case-control design was used; and the means and standard deviations for all variables were reported or could be calculated for both the experimental and the control group.Outcome Measure: Using raw data obtained from nine studies, mean weighted effect sizes with 95% confidence intervals were calculated for 28 cephalometric variables (mothers and fathers combined) or 18 variables (mothers and fathers separately). Heterogeneity statistics for the effect sizes were also calculated.Results: In general, unaffected parents of children with CL/P possessed significantly wider interorbital, nasal cavity and upper facial dimensions, narrower cranial vaults, longer cranial bases, longer and more protrusive mandibles, shorter upper faces and longer lower faces compared with controls. Increased width of the nasal cavity was the most robust finding. Significant effect size heterogeneity was observed in roughly half of the variables examined.Conclusion: Unaffected parents of children with CL/P are characterized by a suite of consistent, yet subtle, craniofacial differences, which could indicate an underlying genetic liability. [ABSTRACT FROM AUTHOR]

Major depressive disorder (MDD) constitutes a major public health problem worldwide and affects women twice as frequently as men. Previous linkage studies have identified a 451 kb region of 2q33-35 that exhibited significant evidence of linkage to Mood Disorders among women (but not men) from families with recurrent, early-onset MDD (RE-MDD), a severe and strongly familial subtype of MDD. This 451 kb region includes CREB1, an attractive susceptibility gene for MDD and related disorders. Sequence variations in the CREB1 promoter and intron 8 have been detected that cosegregate with Mood Disorders, or their absence, in women from these families, identifying CREB1 as a sex-limited susceptibility gene for unipolar Mood Disorders. These findings implicate the cAMP signaling pathway in the pathophysiology of Mood Disorders and related conditions. [ABSTRACT FROM AUTHOR]

Uttered language does not necessarily reflect the planned communications of schizophrenia patients, nor do their delusions necessarily reflect basic failures of inferential reasoning. The role of inhibitory failure in the production of speech and the role of primary experiences of discrepancy between intention and action, and between experience–based expectations and perceived realities account for many of the clinical phenomena that have led to the conclusion that these patients have a ‘thought’ disorder, or a ‘disturbed’ mind. The alternatives and the evidence are summarized in this paper. [ABSTRACT FROM AUTHOR]

Aim: The aim of the study was to ascertain some epidemiological factors such as sex and consanguinity that may be associated with cleft lip with or without cleft palate (CL +/- CP) in Kuwait as well as to conduct genetic segregation analysis of these families.Setting and Sample Population: A total of 113 families ascertained through 121 CL +/- CP and CP surgical probands in Kuwait. The frequencies of cleft types and the epidemiological variables were calculated using SPSS version 5.0 software. Chi-square for goodness-of-fit test was used to test the significance of the associated epidemiological variables to facial clefts. Genetic segregation analysis was performed on 76 families with extended pedigrees and included only those with non-syndromic CL +/- CP (NS CL +/- CP). Major locus segregation analysis was used to fit models to the observed family patterns under Class A regressive models as implemented by REGD routine in S.A.G.E. release 4.0. A test for heterogeneity was also conducted to complete data set in addition to two subsets: Arabs and nomads.Results: Of the 121 patients, 34(28.1%) had CP, 30(24.8%) had CL and 57 (47.1%) had CL + CP. The male to female ratio was 0.89 for CP, 1.14 for CL, 1.35 for CL + CP and 1.2 for all the clefts. The percentage of consanguineous families among those with a positive family history (60%) was not significantly different from that of the general population (54.3%), whereas for all the families with clefts the percent consanguineous was significantly lower (38%). No evidence of heterogeneity in the results between the Arab and nomad subsets was observed. The results for the major locus segregation analysis were inconclusive.Conclusion: No definite association was observed between consanguinity and the occurrence of facial clefts in Kuwait. General transmission models in the full data set showed no evidence of heterogeneity in the results between the Arab and nomad subsets. [ABSTRACT FROM AUTHOR]

Aims Since α1-acid glycoprotein (AGP) levels may be raised during HIV infection, we have examined in vitro the effect of increasing the concentration of AGP on the intracellular accumulation of the HIV protease inhibitors saquinavir (SQV), ritonavir (RTV) and indinavir (IDV). Methods U937 cells (5 × 106 cells in 5 ml RPMI growth medium) were incubated at 37 °C for 18 h with [14C]-SQV (0.1 µCi), [3H]-RTV and [3H]-IDV (0.135 µCi) to a final concentration of 1 µm in the presence of 0, 0.5 and 2.0 mg ml-1 AGP. Following extraction in 60% methanol the intracellular drug concentration was determined by liquid scintillation counting. Results Binding to AGP (2.0 mg ml-1) reduced the mean intracellular concentration of SQV from 31.5 µm to 7.4 µm (P < 0.0001; 95% CI 19.4–28.8). RTV concentration was also reduced (8.8 µm to 1.6 µm; P < 0.0001; 95% CI 5.4–9.0) as was the concentration of IDV (3.0 µm to 1.5 µm; P < 0.0001; 95% CI 1.1–1.9). Conclusions Reduced intracellular protease inhibitor concentrations in the presence of increasing concentrations of AGP will certainly impact on the antiviral activity in vitro. However, since protease inhibitors are high clearance drugs, free drug concentration will likely remain unaffected in the presence of elevated AGP during chronic oral dosing although there will be an increase in total plasma drug concentration. [ABSTRACT FROM AUTHOR]

Background: Gene sequencing is the 'gold standard' for resistance testing in the clinic. We present evidence that clinically misleading results arise with mixed viral populations due to intrasample variability. Methods: An HW+ patient taking nelfinavir presented with mixed populations of virus ar codons 30, 63 and 90 of protease. RNA was re-extracted from plasma and 20 aliquots of cDNA prepared. Each aliquot, including the original cDNA, was sequenced twice, using different ABI310 Genetic Analysers and two primers. Electropherograms were compared for the 42 sequences. Results: All aliquots were sequenced successfully, but produced inconsistent results at mixed codons. A codon is uninterpretable ('N') if no peak dominates at one position. Codons 36, 71, 77 and 84 gave identical results with homozygous bases in all 42 samples. Codon 30 was wild-type (WT) in 29/42, mutant (MT) in 3/42 and 'N' in 10/42. Codon 46 was WT in 37/42 and 'N' in 5/42. Codon 63 was WT in 1/42, MT in 33/42 and 'N' in 8/42. Codon 90 was WT in 4/42, MT in 29/42 and 'N' in 9/21. Conclusions: The 42 sequences should have been identical, but in the presence of a mixed population of virus there is marked variability. Over-amplification of a minor WT population may result in masking of the true dominant MT codon. A false WT could result in a failing regimen being continued or an inactive drug being prescribed. Background: Gene sequencing is the 'gold standard' for resistance testing in the clinic. We present evidence that clinically misleading results arise with mixed viral populations due to intrasample variability. Methods: An HW+ patient taking nelfinavir presented with mixed populations of virus ar codons 30, 63 and 90 of protease. RNA was re-extracted from plasma and 20 aliquots of cDNA prepared. Each aliquot, including the original cDNA, was sequenced twice, using different ABI310 Genetic Analysers and two primers. Electropherograms were compared for the 42 sequences. Results: All aliquots... [ABSTRACT FROM AUTHOR]

The article focuses on the study on pharmacokinetic variability as an important consideration in treatment failure and current approaches to address the problem towards HIV-positive patients. Despite the exposure to most antiretroviral agents and consequently receiving salvage therapy, noticeable number of patients who fail the treatment is growing. Regimens are associated with increased potential for toxicity and serious drug interactions. Reasons of treatment failure is presented.

Intensity of isometric muscle contractions was measured in alcoholic subjects with cirrhosis (N = 42), nonalcoholic subjects with cirrhosis (N = 33), and normal controls (N = 31). Muscle strength and endurance were comparable in the alcoholic and nonalcoholic cirrhotic subjects for all variables. Both cirrhotic groups were inferior to normal controls for all variables. The quantity x frequency (Q x F) index reported for the period during peak alcohol consumption correlated with 6 muscle-force variables, accounting for 9-20% of the variance. Alcoholic and nonalcoholic cirrhotic subjects did not differ in Quality of Life Inventory (QOLI) scales. Significant correlations, however, were found for the alcoholic cirrhotic subjects but not for the nonalcoholic cirrhotic subjects between quality-of-life indices and muscle strength and endurance. Muscle weakness is thus differentially associated with quality of life in alcoholic cirrhotic subjects as compared with nonalcoholic subjects with cirrhosis even though level of strength and endurance in the two groups is comparable. [ABSTRACT FROM AUTHOR]

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Little work has been done to determine objective, reliable differences in formal characteristics of the actual utterances of thought-disordered and non-thought-disordered subjects. The type-token ratio (TTR), a quantitative measure of repetition in language, correlated highly with clinical judgments of thought disorder when spoken language was examined, and statistically differentiated thought-disordered from non-thought-disordered schizophrenics and psychiatric and normal controls. Elicited and spontaneous motor abnormalities were associated with reduced TTRs both in schizophrenics and in affective subjects with motor disturbance. The TTR is a reliable, objective indicator of language deviance and thought disorder, and strongly associated with motor disturbances. [ABSTRACT FROM AUTHOR]

Some research indicates that thought-disordered schizophrenics produce language utterances that are less predictable than those of non-thought-disordered schizophrenics and controls. We examined the hypothesis that thought-disordered schizophrenics would have a parallel deficiency in the ability to use the predictabilities provided by contextual constraint to improve recall of heard language passages. Subjects were seventeen schizophrenics, ten normal controls, and twelve psychiatric controls, evaluated by standardized psychiatric interview and diagnosed according to research criteria. The data obtained supported the hypothesis and non-thought-disordered schizophrenics performed similarly to controls in the experimental task. Failure to classify schizophrenic subjects on the dimension of though disorder may result in misleading comparisons of general samples of schizophrenics with controls on tasks requiring language perception and production. [ABSTRACT FROM AUTHOR]