Sustainability of a Community-Based CHOICE Program to Improve the Health and Nutrition Status of Mothers and Infants in Indonesia

Abstract

Objectives Few studies have been undertaken to determine whether and how project results are sustained. University of Notre Dame (ND) and Project Concern International conducted a Post-Project Sustainability Study (PSS) of a USAID-funded program (CHOICE), implemented in Indonesia, Banten province, between 2003 and 2007, in order to determine lasting effects and improve PSS methodologies. Methods Sustainability was measured through a comparison of data collected on mother–infant pairs in 2014 with final evaluation data from 2007; and through a comparison of 2014 data collected from the CHOICE villages and comparison villages. Results The analysis showed positive differences in multiple indicators in CHOICE villages between 2007 and 2014, including births attended by skilled personnel (Mean Difference 48.56, 95% CI 38.68 to 58.43) and treatment of diarrhea (MD 16.42, 95% CI − 0.94 to 33.37). However, only one statistically significant difference between intervention and comparison groups in 2014 was observed, infants with diarrhea whose mothers sought advice or treatment (MD − 5.48, 95% CI − 9.55 to 1.39), showing more mothers in intervention group sought advice or treatment. Because contextual factors were not studied in detail and baseline data was not available for the comparison villages, it is difficult to determine the reasons for the results. Given that longitudinal data was not collected, it is also difficult to determine whether results fluctuated between 2007 and 2014. Conclusions for practice This PSS contributes to the limited body of knowledge in sustainability research. Lessons learned from this study will increase potential for sustainable impact of projects, as more rigorous measurement will lead to greater overall understanding of how sustainability actually "happens".

from Health via xlomafota13 on Inoreader http://ift.tt/2Ee7mcg
via IFTTT

Enhancing Understanding of Postpartum Pain Among Migrant and Non-migrant Women Through a Qualitative Lens

from Health via xlomafota13 on Inoreader http://ift.tt/2EeN95Z
via IFTTT

Assessing ocular activity during performance of motor skills using electrooculography

Abstract

Eye-tracking research has revealed that, compared to novices, experts make longer ocular fixations on the target of an action when performing motor skills; that is, they have a longer quiet eye. Remarkably, the reason why a longer quiet eye aids movement has yet to be established. There is a need for interdisciplinary research and new measures to accelerate progress on the mechanistic understanding of the phenomenon. With the aim to provide researchers with new tools, we assessed the utility of electrooculography (EOG) to examine ocular activity while 10 experts and 10 novices putted golf balls. We measured quiet eye durations, distinguishing its pre- and postmovement initiation components, and developed a novel time-varying index of ocular activity, eye quietness, computed as the variability of the EOG in short time intervals: lower values correspond with greater quietness. Finally, we measured movement durations using a combination of infrared and sound sensors. Experts had longer postmovement initiation quiet eye compared to novices; however, total and premovement quiet eye durations did not differ between groups. Eye quietness was inversely correlated with quiet eye duration, and was greatest immediately after movement initiation. Importantly, movement duration correlated positively with postmovement initiation quiet eye and negatively with eye quietness shortly after movement initiation. This study demonstrates the utility of assessing ocular activity during performance of motor skills using EOG. Additionally, these findings provide evidence that expert–novice differences in ocular activity may reflect differences in the kinematics (e.g., movement duration) of how experts and novices execute motor skills.

from Physiology via xlomafota13 on Inoreader http://ift.tt/2nWxkKo
via IFTTT

Cross-bridges in slow skeletal muscle: not only slow but also soft

Abstract

Skeletal muscle is composed of slow and fast muscle fibres which contain different isoforms of the myosin heavy chain (MyHC), MyHC-1 in slow fibres and MyHC-2 in fast fibres.

This article is protected by copyright. All rights reserved

from Physiology via xlomafota13 on Inoreader http://ift.tt/2H4SdLW
via IFTTT

Drought Sensitivity of Norway Spruce at the Species' Warmest Fringe: Quantitative and Molecular Analysis Reveals High Genetic Variation Among and Within Provenances

Norway spruce (Picea abies) is by far the most important timber species in Europe, but its outstanding role in future forests is jeopardized by its high sensitivity to drought. We analyzed drought response of Norway spruce at the warmest fringe of its natural range. Based on a 35-year old provenance experiment we tested for genetic variation among and within seed provenances across consecutively occurring strong drought events using dendroclimatic time series. Moreover, we tested for associations between 1,700 variable SNPs and traits related to drought response, wood characteristics and climate-growth relationships. We found significant adaptive genetic variation among provenances originating from the species' Alpine, Central and Southeastern European range. Genetic variation between individuals varied significantly among provenances explaining up to 44% of the phenotypic variation in drought response. Varying phenotypic correlations between drought response and wood traits confirmed differences in selection intensity among seed provenances. Significant associations were found between 29 SNPs and traits related to drought, climate-growth relationships and wood properties which explained between 11 and 43% of trait variation, though 12 of them were due to single individuals having extreme phenotypes of the respective trait. The majority of these SNPs are located within exons of genes and the most important ones are preferentially expressed in cambium and xylem expansion layers. Phenotype-genotype associations were stronger if only provenances with significant quantitative genetic variation in drought response were considered. The present study confirms the high adaptive variation of Norway spruce in Central and Southeastern Europe and demonstrates how quantitative genetic, dendroclimatic and genomic data can be linked to understand the genetic basis of adaptation to climate extremes in trees.

from Genetics via xlomafota13 on Inoreader http://ift.tt/2sk1SLD
via IFTTT

ARDS – Ein Update – Teil 1: Epidemiologie, Pathophysiologie und Diagnostik

Anästhesiol Intensivmed Notfallmed Schmerzther 2018; 53: 102-111
DOI: 10.1055/s-0043-107166

Das akute Lungenversagen (Acute respiratory Distress Syndrome, ARDS) ist inzwischen seit mehr als 50 Jahren als schwerwiegende Komplikation unterschiedlicher Grunderkrankungen gefürchtet [1]. Häufig leiden ARDS-Patienten langfristig unter schwerwiegenden Beeinträchtigungen – auch nach primär erfolgreicher Therapie. Der erste Teil dieses Updates gibt einen aktualisierten Überblick zu Definition, Epidemiologie und Pathophysiologie des ARDS.
[...]

Georg Thieme Verlag KG Stuttgart · New York

Article in Thieme eJournals:
Table of contents  |  Abstract  |  Full text

from Anaesthesiology via xlomafota13 on Inoreader http://ift.tt/2nWbx5y
via IFTTT

Fehlerhafte Daten in randomisierten Studien: Statistik kann sie aufdecken

Anästhesiol Intensivmed Notfallmed Schmerzther 2018; 53: 82-82
DOI: 10.1055/s-0043-123125

Georg Thieme Verlag KG Stuttgart · New York

Article in Thieme eJournals:
Table of contents  |  Full text

from Anaesthesiology via xlomafota13 on Inoreader http://ift.tt/2nMyZTC
via IFTTT

Schlafmangel – Einfluss auf Kommunikation und Interaktion im Team?

Anästhesiol Intensivmed Notfallmed Schmerzther 2018; 53: 81-82
DOI: 10.1055/s-0044-101343

Georg Thieme Verlag KG Stuttgart · New York

Article in Thieme eJournals:
Table of contents  |  Full text

from Anaesthesiology via xlomafota13 on Inoreader http://ift.tt/2nWD6f7
via IFTTT

Senkt die zusätzliche kontinuierliche Infusion von Tranexamsäure Blutverluste?

Anästhesiol Intensivmed Notfallmed Schmerzther 2018; 53: 82-83
DOI: 10.1055/s-0044-101342

Georg Thieme Verlag KG Stuttgart · New York

Article in Thieme eJournals:
Table of contents  |  Full text

from Anaesthesiology via xlomafota13 on Inoreader http://ift.tt/2nOGadQ
via IFTTT

Respiratorisches Versagen: Innovationen zur Diagnostik und Therapie

Anästhesiol Intensivmed Notfallmed Schmerzther 2018; 53: 126-140
DOI: 10.1055/s-0043-108216

Die akute oder chronische respiratorische Insuffizienz hat eine große Bedeutung sowohl in der präklinischen als auch innerklinischen Versorgung. Sie zählt zu den häufigsten Gründen für stationäre Aufnahmen. Dieser Beitrag fasst aktuelle Entwicklungen in der Diagnostik und Therapie des Krankheitsbildes zusammen. Darüber hinaus gibt er einen Ausblick, wie sich die Behandlung in den kommenden Jahren weiterentwickeln könnte.
[...]

Georg Thieme Verlag KG Stuttgart · New York

Article in Thieme eJournals:
Table of contents  |  Abstract  |  Full text

from Anaesthesiology via xlomafota13 on Inoreader http://ift.tt/2nWD5YB
via IFTTT

Macitentan senkt Lungengefäßwiderstand bei CTEPH

Anästhesiol Intensivmed Notfallmed Schmerzther 2018; 53: 84-85
DOI: 10.1055/s-0044-101345

Georg Thieme Verlag KG Stuttgart · New York

Article in Thieme eJournals:
Table of contents  |  Full text

from Anaesthesiology via xlomafota13 on Inoreader http://ift.tt/2nRXHBK
via IFTTT

Respiratorisches Versagen: State of the Art – Diagnose und Therapie

Anästhesiol Intensivmed Notfallmed Schmerzther 2018; 53: 90-101
DOI: 10.1055/s-0043-107167

Die respiratorische Insuffizienz beschreibt die Unfähigkeit des Körpers, einen adäquaten Gasaustausch aufrechtzuerhalten. Sie stellt – insbesondere, wenn sie akut auftritt – einen lebensbedrohlichen Zustand dar, der umgehend therapiert werden muss. Dieser Artikel zeigt, welche Diagnostik erforderlich ist, um den Patienten schnell und korrekt behandeln zu können, und welche Therapieverfahren zur Verfügung stehen.
[...]

Georg Thieme Verlag KG Stuttgart · New York

Article in Thieme eJournals:
Table of contents  |  Abstract  |  Full text

from Anaesthesiology via xlomafota13 on Inoreader http://ift.tt/2nUTigI
via IFTTT

Langzeitüberleben nach venovenöser ECMO

Anästhesiol Intensivmed Notfallmed Schmerzther 2018; 53: 85-85
DOI: 10.1055/s-0044-101344

Georg Thieme Verlag KG Stuttgart · New York

Article in Thieme eJournals:
Table of contents  |  Full text

from Anaesthesiology via xlomafota13 on Inoreader http://ift.tt/2nRXCxW
via IFTTT

ARDS – Ein Update – Teil 2: Therapie und Outcome

Anästhesiol Intensivmed Notfallmed Schmerzther 2018; 53: 112-125
DOI: 10.1055/s-0043-122136

Das Acute respiratory Distress Syndrome (ARDS) ist nunmehr seit über 50 Jahren als gravierende Komplikation verschiedener Grunderkrankungen bekannt [1]. Trotz intensiver Forschung in all dieser Zeit gibt es hinsichtlich der bestmöglichen Therapie des ARDS auch heute noch viele offene Fragen – insbesondere zur maschinellen Beatmung. Der zweite Teil des Update ARDS gibt einen aktualisierten Überblick zu Therapie und Outcome des ARDS.
[...]

Georg Thieme Verlag KG Stuttgart · New York

Article in Thieme eJournals:
Table of contents  |  Abstract  |  Full text

from Anaesthesiology via xlomafota13 on Inoreader http://ift.tt/2nWD5I5
via IFTTT

50 Jahre ARD-Forschung und -Therapie: Resümee und Ausblick

Anästhesiol Intensivmed Notfallmed Schmerzther 2018; 53: 87-89
DOI: 10.1055/s-0043-124225

Georg Thieme Verlag KG Stuttgart · New York

Article in Thieme eJournals:
Table of contents  |  Full text

from Anaesthesiology via xlomafota13 on Inoreader http://ift.tt/2nPAf8u
via IFTTT

Behandlung der Sepsis und des septischen Schocks – die neuen Leitlinien

Anästhesiol Intensivmed Notfallmed Schmerzther 2018; 53: 142-148
DOI: 10.1055/s-0043-114639

Die neue Leitlinie der Surviving Sepsis Campaign wurde im Jahr 2016 überarbeitet und im Jahr 2017 veröffentlicht. Darüber hinaus änderte sich durch „Sepsis-3" die Definition der Sepsis im Jahr 2016 grundlegend, von einer Inflammation mit Infektion hin zu einer „lebensbedrohlichen Organ-Dysfunktion, die durch eine fehlregulierte Wirtsreaktion" verursacht wird. Um die große Herausforderung zu bewältigen, die neuen Erkenntnisse zur Sepsisbehandlung mit der neuen Definition zu vereinen, wurden die Leitlinien vollständig neu strukturiert und umfassend überarbeitet. Die Leitlinie diskutiert die sepsisspezifische Behandlung und gibt Empfehlungen für allgemeine intensivmedizinische Maßnahmen. Der Artikel fasst die wichtigsten Empfehlungen zusammen und diskutiert zusätzlich einige entscheidende Änderungen. Dies soll den Leser ermutigen, die neue Leitlinie in den klinischen Alltag zu übernehmen und somit die Prognose der Patienten, die an einer Sepsis oder einem septischem Schock leiden, zu verbessern.
[...]

Georg Thieme Verlag KG Stuttgart · New York

Article in Thieme eJournals:
Table of contents  |  Abstract  |  Full text

from Anaesthesiology via xlomafota13 on Inoreader http://ift.tt/2nVqJQr
via IFTTT

Nierenersatzverfahren bei akuter Nierenschädigung – Indikation und Durchführung

Anästhesiol Intensivmed Notfallmed Schmerzther 2018; 53: 150-157
DOI: 10.1055/s-0043-110038

Die akute Nierenschädigung ist eine häufige Komplikation kritisch kranker Patienten auf Intensivstationen, die mit einer hohen Morbidität und Letalität einhergeht [1]. Sie ist ein unabhängiger Risikofaktor für ein verschlechtertes Outcome kritisch kranker Patienten [2]. Diese Übersichtsarbeit fasst die verfügbare Evidenz für die Indikation und den Einsatz von Nierenersatzverfahren bei akuter Nierenschädigung anhand aktueller Literatur zusammen.
[...]

Georg Thieme Verlag KG Stuttgart · New York

Article in Thieme eJournals:
Table of contents  |  Abstract  |  Full text

from Anaesthesiology via xlomafota13 on Inoreader http://ift.tt/2nQSfiC
via IFTTT

Ectopic impulse generation in peripheral nerve hyperexcitability syndromes and amyotrophic lateral sclerosis

from Physiology via xlomafota13 on Inoreader http://ift.tt/2snbFjO
via IFTTT

Neural synchronization: average strength vs. temporal patterning

Excessively strong neural synchrony may contribute to the symptoms of different neurological and neuropsychiatric disorders (Uhlhaas and Singer, 2006). Thus, hypokinetic symptoms of Parkinson's disease are associated with elevated beta-band synchrony (Kühn et al., 2009), however this association is not very consistent (Stein and Bar-Gad, 2013). One possible explanation is that this elevated synchrony is very intermittent (Park et al., 2010).

from Physiology via xlomafota13 on Inoreader http://ift.tt/2EwYlOU
via IFTTT

Tritium and radiocarbon levels in the Rhône river delta and along the French Mediterranean coastline

Publication date: Available online 9 February 2018
Source:Journal of Environmental Radioactivity
Author(s): P. Jean-Baptiste, M. Fontugne, E. Fourré, L. Marang, C. Antonelli, S. Charmasson, F. Siclet
The Rhône is characterised by a heavy concentration of nuclear-based industries including nuclear power stations and nuclear sites housing civilian and military facilities. Here, we report the results of a four-year survey (2010–2013) of tritium and radiocarbon levels in a variety of matrices within the Rhône delta and along the French Mediterranean coastline. The aim of the study is to create a spatial reference framework of environmental levels of these two radionuclides, which are the most prevalent in radioactive effluents from nuclear power stations. Although both tritium and radiocarbon levels in the samples analysed are very low and can only be detected using ultra-sensitive analytical techniques, they clearly show the influence of the tritium and radiocarbon discharges carried by the Rhône plume along the Mediterranean coast. The tritium content of suspended matter and sediments of the Rhône is a special case, which shows elevated tritium values not seen in other French rivers with similar nuclear facilities. The north-south spatial distribution of this tritium anomaly shows that these trace values are at their highest in the upper Rhône, close to the Swiss border and upstream of Creys Malville, the northernmost nuclear power station on the Rhône. This points to a legacy of past tritium releases by the watchmaking industry. A dedicated study would be needed to clearly identify the source and the exact nature of this contamination.



from Radiology via xlomafota13 on Inoreader http://ift.tt/2EvTfCk
via IFTTT

The importance of understanding the underlying physiology of exercise when designing exercise interventions for brain health

Abstract

The societal and economic costs of conditions associated with brain pathology (for example depression, dementia and stroke) are ever increasing.

This article is protected by copyright. All rights reserved

from Physiology via xlomafota13 on Inoreader http://ift.tt/2EixYg0
via IFTTT

Neural synchronization: average strength vs. temporal patterning

Publication date: Available online 9 February 2018
Source:Clinical Neurophysiology
Author(s): Sungwoo Ahn, S. Elizabeth Zauber, Robert M. Worth, Thomas Witt, Leonid L. Rubchinsky




from Physiology via xlomafota13 on Inoreader http://ift.tt/2sf7tT6
via IFTTT

Disruption of cortical synaptic homeostasis in individuals with chronic low back pain

Publication date: Available online 9 February 2018
Source:Clinical Neurophysiology
Author(s): Tribikram Thapa, Thomas Graven-Nielsen, Lucinda S. Chipchase, Siobhan M. Schabrun
ObjectiveHomeostatic plasticity mechanisms regulate synaptic plasticity in the human brain. Impaired homeostatic plasticity may contribute to maladaptive synaptic plasticity and symptom persistence in chronic musculoskeletal pain.MethodsWe examined homeostatic plasticity in fifty individuals with chronic low back pain (cLBP) and twenty-five pain-free controls. A single block (7-min) of anodal transcranial direct current stimulation ('single tDCS'), or two subsequent blocks (7-min and 5-min separated by 3-min rest; 'double tDCS'), were randomised across two experimental sessions to confirm an excitatory response to tDCS applied alone, and evaluate homeostatic plasticity, respectively. Corticomotor excitability was assessed in the corticomotor representation of the first dorsal interosseous muscle by transcranial magnetic stimulation-induced motor evoked potentials (MEPs) recorded before and 0, 10, 20, and 30-min following each tDCS protocol.ResultsCompared with baseline, MEP amplitudes increased at all time points in both groups following the single tDCS protocol (P<0.003). Following the double tDCS protocol, MEP amplitudes decreased in pain-free controls at all time points compared with baseline (P<0.01), and were unchanged in the cLBP group.ConclusionThese data indicate impaired homeostatic plasticity in the primary motor cortex of individuals with cLBP.SignificanceImpaired homeostatic plasticity could explain maladaptive synaptic plasticity and symptom persistence in cLBP.



from Physiology via xlomafota13 on Inoreader http://ift.tt/2EvAJKk
via IFTTT

Advancing Survival in Nigeria: A Pre-post Evaluation of an Integrated Maternal and Neonatal Health Program

Abstract

Introduction Nigeria contributes more obstetric, postpartum and neonatal deaths and stillbirths globally than any other country. The Clinton Health Access Initiative in partnership with the Nigerian Federal Ministry of Health and the state Governments of Kano, Katsina, and Kaduna implemented an integrated Maternal and Neonatal Health program from July 2014. Up to 90% women deliver at home in Northern Nigeria, where maternal mortality ratio and neonatal mortality rates (MMR and NMR) are high and severe challenges to improving survival exist. Methods Community-based leaders ("key informants") reported monthly vital events. Pre-post comparisons of later (months 16–18) with conservative baseline (months 7–9) rates were used to assess change in MMR, NMR, perinatal mortality (PMR) and stillbirth. Two-tailed cross-tabulations and unadjusted and adjusted logistic regression analyses were conducted. Results Data on 147,455 births (144,641 livebirths and 4275 stillbirths) were analyzed. At endline (months 16–18), MMR declined 37% (OR 0.629, 95% CI 0.490–0.806, p ≤ 0.0003) vs. baseline 440/100,000 births (months 7–9). NMR declined 43% (OR 0.574, 95% CI 0.503–0.655, p < 0.0001 vs. baseline 15.2/1000 livebirths. Stillbirth rates declined 15% (OR 0.850, 95% CI 0.768–0.941, p = 0.0018) vs. baseline 21.1/1000 births. PMR declined 27% (OR 0.733, 95% CI 0.676–0.795, p < 0.0001) vs. baseline 36.0/1000 births. Adjusted results were similar. Discussion The findings are similar to the Cochrane Review effects of community-based interventions and indicate large survival improvements compared to much slower global and flat national trends. Key informant data have limitations, however, their limitations would have little effect on the results magnitude or significance.

from Health via xlomafota13 on Inoreader http://ift.tt/2nVw1LK
via IFTTT

Calcium signalling in the acinar environment of the exocrine pancreas: physiology and pathophysiology

Abstract

Physiological Ca²⁺ signals in pancreatic acinar cells control fluid and enzyme secretion, whereas excessive Ca²⁺ signals induced by pathological agents induce destructive processes leading to acute pancreatitis. Ca²⁺ signals in the peri-acinar stellate cells may also play a role in the development of acute pancreatitis. In this study, we have explored Ca²⁺ signalling in the different cell types to be found in the acinar environment of the pancreatic tissue. We have, for the first time, recorded depolarization-evoked Ca²⁺ signals in pancreatic nerves and shown that whereas acinar cells receive a functional cholinergic innervation, there is no evidence for functional innervation of the stellate cells. The stellate, like the acinar, cells are not electrically excitable as they do not generate Ca²⁺ signals in response to membrane depolarization. The principal agent evoking Ca²⁺ signals in the stellate cells is bradykinin, but in experimental alcohol-related acute pancreatitis, these cells become much less responsive to bradykinin and then acquire sensitivity to trypsin. Our new findings have implications for our understanding of the development of acute pancreatitis and we propose a scheme in which Ca²⁺ signals in stellate cells provide an amplification loop promoting acinar cell death. Initial release of the proteases kallikrein and trypsin from dying acinar cells can, via bradykinin generation and protease activated receptors, induce Ca²⁺ signals in stellate cells which can then, possibly via nitric oxide generation, damage more acinar cells and thereby cause additional release of proteases, generating a vicious circle.

This article is protected by copyright. All rights reserved

from Physiology via xlomafota13 on Inoreader http://ift.tt/2EehHZx
via IFTTT

ICD-10 impact on ascertainment and accuracy of oral cleft cases as recorded by the Brazilian national live birth information system

We compared Brazilian oral cleft (OC) frequencies between the population-based Brazilian System of Live Birth (SINASC) and the hospital-based Latin American Collaborative Study of Congenital Malformations (ECLAMC), trying to understand the paucity of cleft of lip and palate (CLP) in the first system. SINASC uses the International Classification of Disease version 10 (ICD-10) for congenital defects coding, ECLAMC uses ICD-8 with modifications. In SINASC, the CLP frequency was 1.7 per 10,000 (95% confidence limits 1.7–1.8), cleft lip (CL) 1.6 (1.5–1.7), and cleft palate (CP) 2.0 (1.9–2.1). In ECLAMC, the CLP frequency was 10.4 per 10,000 (9.0–12.1), CL 5.5 (4.5–6.7), and CP 4.4. (4.5–6.7). In SINASC, only 33% of the oral clefts were CLP, versus 51% in ECLAMC. Part of this discrepancy may have been due to the relative excess of CP and CL cases. Although congenital defect frequencies are usually lower in population than in hospital-based registries, differences in the proportion of the main OC categories are not expected and are probably due to ICD-10 coding issues, such as lumping of unilateral CL and CL without other specifications. ICD-10 codes, whose deficiency for oral clefts is fully explained in the literature, lack modifiers for severity, or clinical subtypes. This paper shows the practical aspect of the ICD-10 system deficiency in capturing cleft lip and palate (CLP) subtypes, as demonstrated in SINASC covering three million births per year. Such errors are expected to occur in any registry that uses the ICD-10 coding system, and must be adjusted, given its relevance worldwide.

from Genetics via xlomafota13 on Inoreader http://ift.tt/2FZrDCG
via IFTTT

Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK–neurexin interaction

Abstract

Deletion and truncation mutations in the X-linked gene CASK are associated with severe intellectual disability (ID), microcephaly and pontine and cerebellar hypoplasia in girls (MICPCH). The molecular origin of CASK-linked MICPCH is presumed to be due to disruption of the CASK–Tbr-1 interaction. This hypothesis, however, has not been directly tested. Missense variants in CASK are typically asymptomatic in girls. We report three severely affected girls with heterozygous CASK missense mutations (M519T (2), G659D (1)) who exhibit ID, microcephaly, and hindbrain hypoplasia. The mutation M519T results in the replacement of an evolutionarily invariant methionine located in the PDZ signaling domain known to be critical for the CASK–neurexin interaction. CASK^M519T is incapable of binding to neurexin, suggesting a critically important role for the CASK–neurexin interaction. The mutation G659D is in the SH3 (Src homology 3) domain of CASK, replacing a semi-conserved glycine with aspartate. We demonstrate that the CASK^G659D mutation affects the CASK protein in two independent ways: (1) it increases the protein's propensity to aggregate; and (2) it disrupts the interface between CASK's PDZ (PSD95, Dlg, ZO-1) and SH3 domains, inhibiting the CASK–neurexin interaction despite residing outside of the domain deemed critical for neurexin interaction. Since heterozygosity of other aggregation-inducing mutations (e.g., CASK^W919R) does not produce MICPCH, we suggest that the G659D mutation produces microcephaly by disrupting the CASK–neurexin interaction. Our results suggest that disruption of the CASK–neurexin interaction, not the CASK–Tbr-1 interaction, produces microcephaly and cerebellar hypoplasia. These findings underscore the importance of functional validation for variant classification.

from Genetics via xlomafota13 on Inoreader http://ift.tt/2G2cu3H
via IFTTT

Prediction of inherited genomic susceptibility to 20 common cancer types by a supervised machine-learning method [Genetics]

Prevention and early intervention are the most effective ways of avoiding or minimizing psychological, physical, and financial suffering from cancer. However, such proactive action requires the ability to predict the individual's susceptibility to cancer with a measure of probability. Of the triad of cancer-causing factors (inherited genomic susceptibility, environmental factors,...

from Genetics via xlomafota13 on Inoreader http://ift.tt/2H1CsFL
via IFTTT

Nonsense-mediated mRNA decay factors cure most [PSI+] prion variants [Genetics]

The yeast prion [PSI+] is a self-propagating amyloid of Sup35p with a folded in-register parallel β-sheet architecture. In a genetic screen for antiprion genes, using the yeast knockout collection, UPF1/NAM7 and UPF3, encoding nonsense-mediated mRNA decay (NMD) factors, were frequently detected. Almost all [PSI+] variants arising in the absence of...

from Genetics via xlomafota13 on Inoreader http://ift.tt/2H33AnG
via IFTTT

BARD1 is necessary for ubiquitylation of nucleosomal histone H2A and for transcriptional regulation of estrogen metabolism genes [Genetics]

Missense mutations that disrupt the RING domain of the tumor suppressor gene BRCA1 lead to increased risk of breast and ovarian cancer. The BRCA1 RING domain is a ubiquitin ligase, whose structure and function rely critically on forming a heterodimer with BARD1, which also harbors a RING domain. The function...

from Genetics via xlomafota13 on Inoreader http://ift.tt/2G0EwMK
via IFTTT

Genetic and epigenetic alterations in normal tissues have differential impacts on cancer risk among tissues [Genetics]

Genetic and epigenetic alterations are both involved in carcinogenesis, and their low-level accumulation in normal tissues constitutes cancer risk. However, their relative importance has never been examined, as measurement of low-level mutations has been difficult. Here, we measured low-level accumulations of genetic and epigenetic alterations in normal tissues with low,...

from Genetics via xlomafota13 on Inoreader http://ift.tt/2H11N2E
via IFTTT

Measuring Sedentary Behavior During Pregnancy: Comparison Between Self-reported and Objective Measures

Abstract

Objectives To quantify and compare the sedentary time estimated by the Sedentary Behavior Questionnaire (SBQ) and the sedentary time objectively measured by a multi-sensor monitor (SWA) in pregnant women. Methods One hundred eighty-six participants answered the SBQ and wore the SWA at least 7 valid days. The concordance, correlation, agreement and relative activity levels between both measures of sedentary time were examined. Differences of sedentary time between weekday and weekend and between groups stratified by sociodemographic and clinical characteristic were evaluated by one-way analysis of variance. Results Pregnant women were sedentary the 64% of their waking hours. Television viewing is the most prevalent sedentary behavior. The concordance, correlation, and agreement between SBQ and SWA were weak, yet a significant correlation in weekday and average day sedentary time (r = 0.23 and 0.20, P = 0.001 and 0.008, respectively) was observed. A significant linear trend was found for increasing sedentary time between both methods using a relative activity levels analysis. Conclusions for Practice Pregnant women experience high amount of sedentary time, for approximately half of the day. The SBQ shows a low validity and agreement, but strong ability to rank individuals compared with SWA in pregnant women.

from Health via xlomafota13 on Inoreader http://ift.tt/2BPSV0s
via IFTTT

Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots

Mutations within STXBP1 have been associated with a range of neurodevelopmental disorders implicating the pleotropic impact of this gene. Although the frequency of de novo mutations within STXBP1 for selective cohorts with early onset epileptic encephalopathy is more than 1%, there is no evidence for a hotspot within the gene. In this study, we analyzed the genomic context of de novo STXBP1 mutations to examine whether certain motifs indicated a greater risk of mutation. Through a comprehensive context analysis of 136 de novo/rare mutation (SNV/Indels) sites in this gene, strikingly 26.92% of all SNV mutations occurred within 5bp upstream or downstream of a 'GTA' motif (P < 0.0005). This implies a genomic context modulated mutagenesis. Moreover, 51.85% (14 out of 27) of the 'GTA' mutations are splicing compared to 14.70% (20 out of 136) of all reported mutations within STXBP1. We also noted that 11 of these 14 'GTA' associated mutations are de novo in origin. Our analysis provides strong evidence of DNA motif modulated mutagenesis for STXBP1 de novo splicing mutations.

from Genetics via xlomafota13 on Inoreader http://ift.tt/2sgILlv
via IFTTT

Opinion paper: scientific, philosophical and legal consideration of doping in sports

Abstract

The term doping is generally used to indicate practices based on the use of performance-enhancing drugs (PEDs) or the abuse of medical therapies. Mostly analysed by doctors and officials, doping nevertheless also requires a philosophical consideration to avoid being simplistically portrayed as an isolated practice. To do this, we need to pay attention to the contradictions and paradoxes in the modern approach to doping in sport. In this context, doping is not only relevant to the health of an individual involved in the violation of World Anti-Doping Agency (WADA) criteria, but it actually represents a double-edged phenomenon containing ethical and legal points of view. Several philosophical items affect the ethics of doping. While, indeed, through a deontological vision it is easy to morally condemn an athlete who takes the decision to turn to doping, the same condemnation becomes difficult when the practice of doping is compared with the strong social demand of winners in every field of life. This point must be considered to prevent doping from becoming accepted as a daily practice to excel at all costs and regarded not only as normal but as a necessity for those participating in sport at both an amateur and professional level. Furthermore, a complete discussion on doping has to consider not only the philosophy of performance-enhancing drug abuse, but also the widespread practice of an inappropriate and excessive intake of certain dietary supplements with the unique and obsessive purpose (similar to doping) of increasing physical or mental performance. Based on the above, the aim of this paper is to provide a critical opinion of the doping problem and its related practices and analyze possible solutions considering issues that go beyond the impact of doping on health and reflect on whether it is right or not that an athlete does all he can to improve his performance.

Graphical Abstract

from Physiology via xlomafota13 on Inoreader http://ift.tt/2FZZ6gd
via IFTTT

Breastfeeding Duration and the Theory of Planned Behavior and Breastfeeding Self-Efficacy Framework: A Systematic Review of Observational Studies

Abstract

Introduction Numerous studies have shown that the constructs of the Theory of Reasoned Action (TRA), Theory of Planned Behavior (TPB) and Breastfeeding Self-Efficacy (BSE) Framework can effectively identify relationships between maternal psychosocial factors and breastfeeding initiation. However, the ability of these theories to predict breastfeeding duration has not been adequately analyzed. The aim of the review was to examine the utility of the constructs of TRA/TPB and BSE to predict breastfeeding duration. Methods We conducted a literature search using Pubmed (1980-May 2015), Medline (1966-May 2015), CINAHL (1980-May 2015), EMBASE (1980-May 2015) and PsycINFO (1980-May 2015). We selected studies that were observational studies without randomization or blinding, using TRA, TPB or BSE as the framework for analysis. Only studies reporting on breastfeeding duration were included. Results Thirty studies were selected, which include four using TRA, 10 using TPB, 15 using BSE and one using a combination of TPB and BSE. Maternal intention and breastfeeding self-efficacy were found to be important predictors of breastfeeding duration. Inconsistent findings were found in assessing the relationship between maternal attitudes, subjective norms, perceived behavior control and breastfeeding duration. Discussion The inadequacy of these constructs in explaining breastfeeding duration indicates a need to further explore the role of maternal self-determination in breastfeeding behavior.

from Health via xlomafota13 on Inoreader http://ift.tt/2ERPqFq
via IFTTT

Prenatal Maternal Depressive Symptoms Predict Early Infant Health Concerns

Abstract

Introduction

Recent research suggests that health disparities among low-SES and ethnic minority populations may originate from prenatal and early life exposures. Postpartum maternal depressive symptoms have been linked to poorer infant physical health, yet prenatal depressive symptoms not been thoroughly examined in relation to infant health.

Methods

In a prospective study of low-income Mexican American mothers and their infants, women (N = 322, median age 27.23, IQR = 22.01–32.54) completed surveys during pregnancy (median gestation 39.50, IQR = 38.71–40.14 weeks) and 12 weeks after birth. We investigated (1) if prenatal depressive symptoms predicted infant physical health concerns at 12 weeks of age, (2) whether these associations occurred above and beyond concurrent depressive symptoms, and (3) if birth weight, gestational age, and breastfeeding were mediators of prenatal depression predicting subsequent infant health.

Results

Higher prenatal depressive symptoms were associated with more infant physical health concerns at 12 weeks (p < .001), after accounting for 12-week maternal depressive symptoms, breastfeeding, gestational age, and birth weight. Twelve-week maternal depressive symptoms were concurrently associated with more infant health concerns (p < .01). Birth weight, gestational age, and breastfeeding were not associated with maternal depression or infant health concerns.

Discussion

Results establish a link between prenatal depressive symptoms and an elevated risk of poor health evident shortly after birth. These findings underscore the importance of the prenatal period as a possible sensitive period for infants' health, and the need for effective interventions for depression during pregnancy to mitigate potentially teratogenic effects on the developing fetus and reduce risks for later health concerns.

from Health via xlomafota13 on Inoreader http://ift.tt/2EekgqL
via IFTTT

Media and Young Minds: Comparing State Screen Media Use Regulations for Children Under 24 Months of Age in Early Care and Education to a National Standard

Abstract

Introduction Excessive screen media use has been associated with a number of negative health outcomes in young children, including increased risk for obesity and comparatively lagging cognitive development. The purpose of this study was to assess state licensing regulations restricting screen media use for children under 24 months old in early care and education (ECE) and to compare regulations to a national standard. Methods We reviewed screen media use regulations for all US states for child care centers ("centers") and family child care homes ("homes") and compared these regulations to a national standard discouraging screen media use in children under 24 months of age. We assessed associations between state geographic region and year of last update with the presence of regulations consistent with the standard. In centers, 24 states had regulations limiting screen media use for children under 24 months of age and 19 states had regulations limiting screen media use in homes. Results More states in the South and fewer states in the Midwest had regulations limiting screen media use. The association between geographic region and regulations was not significant for centers (p = 0.06), but was for homes (p = 0.04). The year of last update (within the past 5 years versus older than 5 years) was not associated with regulations for centers (p = 0.18) or homes (p = 0.90). Discussion Many states lacked screen media use regulations for ECE. States should consider adding screen media use restrictions for children under 24 months based on current research data and current recommendations in future regulations updates.

from Health via xlomafota13 on Inoreader http://ift.tt/2EO9msB
via IFTTT