The clinical utility of routine urinalysis in pregnancy: A prospective study

Objectives: To determine whether routine urinalysis in the antenatal period facilitates diagnosis of pre-eclampsia. Can routine urinalysis during pregnancy be discontinue in women with normal results of dipstick urinalysis and microscopy at the first antenatal visit? Design: Prospective observational study. Setting: A metropolitan public hospital and a private hospital in Sydney (NSW). Participants: One thousand women were enrolled at their first antenatal visit (March to November 1999), and 913 completed the study. Outcome measures: The primary outcome was a diagnosis of de novo hypertension (gestational hypertension, pre-eclampasia, or pre-eclampsia superimposed on chronic hypertension). Results: Thirty-five women had dipstick proteinuria at the first antenatal visit. In 25 (71%) of these women, further dipstick proteinuria was detected during pregnancy, and two (6%) were diagnosed with pre-eclampsia. Of the 867 without dipstick proteinuria at the first visit, 338 (39%) had dipstick proteinuria (> 1+) at some time during pregnancy. There were no statistically significant differences in the proportion of women with and without dipstick proteinuria at their first visit who developed hypertension during pregnancy. Only six women developed proteinuria before the onset of hypertension. Women who had an abnormal result of a midstream urine test at their first visit, compared with women with a normal result, were more likely to have a urinary tract infection diagnosed during pregnancy; however, the numbers were small. Conclusion: In the absence of hypertension, routine urinalysis during pregnancy is a poor predictor of pre-eclampsia. Therefore, after an initial screening urinalysis, routine urinalysis could be eliminated from antenatal care without adverse outcomes for women

Postpartum physiology, psychology and paediatric follow up study (P4 Study) – Study protocol

© 2016 International Society for the Study of Hypertension in Pregnancy Background Women who have had hypertension in pregnancy are at greater risk of long term cardiovascular disease (CVD). Little is known about their cardiovascular risk postpartum or the effects on the woman's mental health and the outcomes of their infants. In this project we will study the physiological and psychological health of women and the physical health and development of their infants six months, two years and five years after birth. We will establish normal blood pressure (BP) and metabolic function for women who were normotensive in pregnancy and use these to assess women who had gestational hypertension (GH) or preeclampsia (PE). Design/methods Women will be asked to participate if they have given birth in the preceding six months. They will be excluded if they had diabetes, hypertension, renal or other serious maternal disease prior to pregnancy or congenital anomaly in the pregnancy. We will recruit 292 women who were normotensive and their babies, 100 who had GH and 100 who had PE and their babies. They will be assessed at six months, two and five years after birth. At each assessment mothers will have their blood pressure (BP) assessed peripherally with a liquid crystal sphygmomanometer and 24 h ambulatory blood pressure monitoring (ABPM), and centrally with non-invasive applanation tonometry. Additional physiological testing will include: body composition; energy balance; vascular compliance; cardiac function; liver and renal function, lipids and biochemistry; glucose and insulin; and urinalysis. Psychological status will be assessed with validated self-report questionnaires for depression, anxiety, post-traumatic stress disorder (PTSD) and mother-infant bonding. The babies will have a medical examination by a paediatrician at each assessment. Their behavioural development will be assessed with an Ages and Stages Questionnaire completed by their mother at each assessment and a developmental assessment by a child psychologist at two and five years. Conclusions This study will re-define normal BP and other physiological parameters for young parous women thereby permitting a more sensitive assessment of post-partum BP and other cardiovascular risk markers in women who have had GH or PE. It will also determine the extent, if any, of psychological disorders in these women and developmental or other concerns in their babies. Trials registration Australian and New Zealand Clinical Trials Registry Number: ACTRN12613001260718

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

Large brain size is one of the defining characteristics of modern humans. Seckel syndrome (MIM 210600), a disorder of markedly reduced brain and body size, is associated with defective ATR-dependent DNA damage signaling. Only a single hypomorphic mutation of ATR has been identified in this genetically heterogeneous condition. We now report that mutations in the gene encoding pericentrin (PCNT)--resulting in the loss of pericentrin from the centrosome, where it has key functions anchoring both structural and regulatory proteins--also cause Seckel syndrome. Furthermore, we find that cells of individuals with Seckel syndrome due to mutations in PCNT (PCNT-Seckel) have defects in ATR-dependent checkpoint signaling, providing the first evidence linking a structural centrosomal protein with DNA damage signaling. These findings also suggest that other known microcephaly genes implicated in either DNA repair responses or centrosomal function may act in common developmental pathways determining human brain and body size

Cognitive and social activities and long-term dementia risk: the prospective UK Million Women Study

BACKGROUND: Although dementia is associated with non-participation in cognitive and social activities, this association might merely reflect the consequences of dementia, rather than any direct effect of non-participation on the subsequent incidence of dementia. Because of the slowness with which dementia can develop, unbiased assessment of any such direct effects must relate non-participation in such activities to dementia detection rates many years later. Prospective studies with long-term follow-up can help achieve this by analysing separately the first and second decade of follow-up. We report such analyses of a large, 20-year study. METHODS: The UK Million Women Study is a population-based prospective study of 1·3 million women invited for National Health Service (NHS) breast cancer screening in median year 1998 (IQR 1997-1999). In median year 2001 (IQR 2001-2003), women were asked about participation in adult education, groups for art, craft, or music, and voluntary work, and in median year 2006 (IQR 2006-2006), they were asked about reading. All participants were followed up through electronic linkage to NHS records of hospital admission with mention of dementia, the first mention of which was the main outcome. Comparing non-participation with participation in a particular activity, we used Cox regression to assess fully adjusted dementia risk ratios (RRs) during 0-4, 5-9, and 10 or more years, after information on that activity was obtained. FINDINGS: In 2001, 851 307 women with a mean age of 60 years (SD 5) provided information on participation in adult education, groups for art, craft, or music, and voluntary work. After 10 years, only 9591 (1%) had been lost to follow-up and 789 339 (93%) remained alive with no recorded dementia. Follow-up was for a mean of 16 years (SD 3), during which 31 187 (4%) had at least one hospital admission with mention of dementia, including 25 636 (3%) with a hospital admission with dementia mentioned for the first time 10 years or more after follow-up began. Non-participation in cognitive or social activities was associated with higher relative risks of dementia detection only during the first decade after participation was recorded. During the second decade, there was little association. This was true for non-participation in adult education (RR 1·04, 99% CI 0·98-1·09), in groups for art, craft, or music (RR 1·04, 0·99-1·09), in voluntary work (RR 0·96, 0·92-1·00), or in any of these three (RR 0·99, 0·95-1·03). In 2006, 655 118 women provided information on reading. For non-reading versus any reading, there were similar associations with dementia, again with strong attenuation over time since reading was recorded, but longer follow-up is needed to assess this reliably. INTERPRETATION: Life has to be lived forwards, but can be understood only backwards. Long before dementia is diagnosed, there is a progressive reduction in various mental and physical activities, but this is chiefly because its gradual onset causes inactivity and not because inactivity causes dementia. FUNDING: UK Medical Research Council, Cancer Research UK

Statistical methods in language processing

The term statistical methods here refers to a methodology that has been dominant in computational linguistics since about 1990. It is characterized by the use of stochastic models, substantial data sets, machine learning, and rigorous experimental evaluation. The shift to statistical methods in computational linguistics parallels a movement in artificial intelligence more broadly. Statistical methods have so thoroughly permeated computational linguistics that almost all work in the field draws on them in some way. There has, however, been little penetration of the methods into general linguistics. The methods themselves are largely borrowed from machine learning and information theory. We limit attention to that which has direct applicability to language processing, though the methods are quite general and have many nonlinguistic applications. Not every use of statistics in language processing falls under statistical methods as we use the term. Standard hypothesis testing and experimental design, for example, are not covered in this article. WIREs Cogni Sci 2011 2 315–322 DOI: 10.1002/wcs.111 For further resources related to this article, please visit the WIREs websitePeer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/83468/1/111_ftp.pd

The Common Oceanographer: Crowdsourcing the Collection of Oceanographic Data

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Patients' views on responsibility for the management of musculoskeletal disorders – A qualitative study

<p>Abstract</p> <p>Background</p> <p>Musculoskeletal disorders are very common and almost inevitable in an individual's lifetime. Enabling self-management and allowing the individual to take responsibility for care is stated as desired in the management of these disorders, but this may be asking more than people can generally manage. A willingness among people to take responsibility for musculoskeletal disorders and not place responsibility out of their hands or on employers but to be shared with medical professionals has been shown. The aim of the present study was to describe how people with musculoskeletal disorders think and reason regarding responsibility for prevention, treatment and management of the disorder.</p> <p>Methods</p> <p>Individual interviews with a strategic sample of 20 individuals with musculoskeletal disorders were performed. The interviews were tape-recorded, transcribed verbatim and analysed according to qualitative content analysis.</p> <p>Results</p> <p>From the interviews an overarching theme was identified: own responsibility needs to be met. The analysis revealed six interrelated categories: Taking on responsibility, Ambiguity about responsibility, Collaborating responsibility, Complying with recommendations, Disclaiming responsibility, and Responsibility irrelevant. These categories described different thoughts and reasoning regarding the responsibility for managing musculoskeletal disorders. Generally the responsibility for prevention of musculoskeletal disorders was described to lie primarily on society/authorities as they have knowledge of what to prevent and how to prevent it. When musculoskeletal disorders have occurred, health care should provide fast accessibility, diagnosis, prognosis and support for recovery. For long-term management, the individuals themselves are responsible for making the most out of life despite disorders.</p> <p>Conclusion</p> <p>No matter what the expressions of responsibility for musculoskeletal disorders are, own responsibility needs to be met by society, health care, employers and family in an appropriate way, with as much or as little of the "right type" of support needed, based on the individual's expectations.</p

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

Pyruvate dehydrogenase complex (PDC) deficiency caused by mutations in the X-linked PDHA1 gene has a broad clinical presentation, and the pattern of X-chromosome inactivation has been proposed as a major factor contributing to its variable expressivity in heterozygous females. Here, we report the first set of monozygotic twin females with PDC deficiency, caused by a novel, de novo heterozygous missense mutation in exon 11 of PDHA1 (NM_000284.3: c.1100A>T). Both twins presented in infancy with a similar clinical phenotype including developmental delay, episodes of hypotonia or encephalopathy, epilepsy, and slowly progressive motor impairment due to pyramidal, extrapyramidal, and cerebellar involvement. However, they exhibited clear differences in disease severity that correlated well with residual PDC activities (approximately 60% and 20% of mean control values, respectively) and levels of immunoreactive E1α subunit in cultured skin fibroblasts. To address whether the observed clinical and biochemical differences could be explained by the pattern of X-chromosome inactivation, we undertook an androgen receptor assay in peripheral blood. In the less severely affected twin, a significant bias in the relative activity of the two X chromosomes with a ratio of approximately 75:25 was detected, while the ratio was close to 50:50 in the other twin. Although it may be difficult to extrapolate these results to other tissues, our observation provides further support to the hypothesis that the pattern of X-chromosome inactivation may influence the phenotypic expression of the same mutation in heterozygous females and broadens the clinical and genetic spectrum of PDC deficiency