Πέμπτη, 24 Νοεμβρίου 2016

Akute Nierenschädigung - Stellenwert von Biomarkern bei perioperativen und intensivmedizinischen Patienten

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 698-706
DOI: 10.1055/s-0042-101442

Die akute Nierenschädigung beeinträchtigt auch bei scheinbar mildem Verlauf und scheinbar vollständiger Erholung der Nierenfunktion die Kurz- und Langzeitprognose betroffener Patienten, ist aber prinzipiell therapeutisch beeinflussbar. Je größer das Zeitfenster zwischen dem Primärereignis und der Nierenfunktionserholung ist, desto schlechter ist die Prognose. Als wirksame Gegenmaßnahmen werden in Leitlinien die Frühdiagnose und die rasche, multifaktorielle Therapieeinleitung empfohlen, um die auslösenden und unterhaltenden nierenschädlichen Faktoren zu identifizieren und optimale Bedingungen für eine vollständige oder weitgehende Nierenerholung zu schaffen. Verschiedene Maßnahmen sind verfügbar, um eine akute Nierenschädigung bei perioperativen und intensivmedizinischen Patienten frühzeitig zu erkennen und die Behandlung einzuleiten.
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© Georg Thieme Verlag Stuttgart · New York

Article in Thieme eJournals:
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Erste Normalstationen mit Frühwarnsystem ausgestattet

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 713-713
DOI: 10.1055/s-0042-119932


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© Georg Thieme Verlag Stuttgart · New York

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Postzosterneuralgie: transkranielle Magnetstimulation

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 652-652
DOI: 10.1055/s-0042-115504


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© Georg Thieme Verlag Stuttgart · New York

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Neue S3-Leitlinie zu Polytrauma

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 712-713
DOI: 10.1055/s-0042-119929


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© Georg Thieme Verlag Stuttgart · New York

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Mikrovaskulärer Blutfluss bei Sepsis

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 652-653
DOI: 10.1055/s-0042-115505


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© Georg Thieme Verlag Stuttgart · New York

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Akute Nierenschädigung - Postoperatives Begleitphänomen oder kausaler Risikofaktor für das operative Behandlungsergebnis?

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 682-688
DOI: 10.1055/s-0042-101446

Der demografische Wandel und die Zunahme der Komplexität diagnostischer und chirurgischer Eingriffe haben dazu geführt, dass akute Nierenschädigung eine postoperative Komplikation mit zunehmender Relevanz ist. Postoperative akute Nierenschädigung ist mit höherer Mortalität und Morbidität sowie mit erhöhten Behandlungskosten assoziiert. Ob postoperative akute Nierenschädigung tatsächlich kausal mit einem schlechteren chirurgischen Behandlungsergebnis verknüpft ist, ist bisher nicht zweifelsfrei bewiesen. Dieser Artikel soll einen Überblick über das Phänomen postoperative akute Nierenschädigung geben, die Schwierigkeiten bei der Führung des Kausalbeweises in biomedizinscher Forschung erörtern und letztlich Argumente für und gegen den kausalen Zusammenhang zwischen posto-perativer akuter Nierenschädigung und dem chirurgischem Behandlungsergebnis diskutieren.
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© Georg Thieme Verlag Stuttgart · New York

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Intraoperative EEG-Suppression assoziiert mit späterem Delir

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 653-654
DOI: 10.1055/s-0042-115506


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© Georg Thieme Verlag Stuttgart · New York

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Bildgebung bei Rückenschmerzen oft sinnlos

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 712-712
DOI: 10.1055/s-0042-119927


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© Georg Thieme Verlag Stuttgart · New York

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MikroRNA im septischen Schock verändert

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 654-654
DOI: 10.1055/s-0042-115507


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© Georg Thieme Verlag Stuttgart · New York

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Thieme unterzeichnet „Sharing Principles“

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 712-712
DOI: 10.1055/s-0042-119933


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© Georg Thieme Verlag Stuttgart · New York

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Schlaganfallbehandlung: schneller vor Ort als im Krankenhaus?

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 654-655
DOI: 10.1055/s-0042-115508


[...]

© Georg Thieme Verlag Stuttgart · New York

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Akute Nierenschädigung - Aus Sicht des Nachwuchses

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 680-681
DOI: 10.1055/s-0042-101451

Die perioperative Nierenfunktionschädigung (acute kidney injury, AKI) wird typischerweise immer noch als primär intensivmedizinische denn als perioperative Komplikation wahrgenommen. Dabei bringen neben der Sepsis gerade große chirurgische Eingriffe viele Faktoren mit sich, die zu einer perioperativen AKI beitragen können. In diesem Kontext wird v. a. bei Elektiveingriffen das Risiko einer AKI immer noch erheblich unterschätzt.
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© Georg Thieme Verlag Stuttgart · New York

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Kochsalzbolus nach Rocuronium verlängert Wirkdauer

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 655-655
DOI: 10.1055/s-0042-115509


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© Georg Thieme Verlag Stuttgart · New York

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Akute Nierenschädigung - Ischämische Fernpräkonditionierung: ein Therapiekonzept für die Niere?

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 690-696
DOI: 10.1055/s-0042-101445

Die akute Nierenschädigung ist eine häufige und schwerwiegende Komplikation, die mit einer erhöhten Morbidität und Mortalität einhergeht. Sepsis und große chirurgische Eingriffe, insbesondere herzchirurgische Operationen, sind die häufigsten Ursachen für die Entwicklung einer akuten Nierenschädigung. Bereits geringgradige Serumkreatininwert-Erhöhungen sind mit einer erhöhten Mortalitätsrate assoziiert, sodass effektive Strategien zur Verhinderung einer akuten Nierenschädigung essenziell sind. Die ischämische Fernpräkonditionierung ist eine Intervention, die gekennzeichnet ist durch kurze Ischämie- und Reperfusionsphasen eines entfernten Gewebes oder Organs, bevor der eigentliche Schaden am Zielorgan stattfindet. Diese einfache und komplikationslose Maßnahme ist möglicherweise ein renoprotektiver Ansatz.
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© Georg Thieme Verlag Stuttgart · New York

Article in Thieme eJournals:
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Wache Videolaryngoskopie

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 656-663
DOI: 10.1055/s-0042-102798

Einleitung: Derzeit rückt eine neue, faszinierende Technik als Alternative zur wachen flexiblen Intubationsendoskopie in den Fokus der klinischen Anästhesie: Wache Videolaryngoskopie.Hauptthemen: Die Intubation unter Erhaltung der Spontanatmung ist das Verfahren mit dem geringsten Risiko für Patienten mit erwartet schwierigem Atemweg. Im direkten Vergleich zur wachen, flexiblen Intubationsendoskopie erreicht die wache Videolaryngoskopie akzeptable Intubationszeiten bei gleichzeitig hoher Akzeptanz durch Patient und Anästhesist. In speziellen Fällen, insbesondere bei stark limitierter Mundöffnung und einer veränderten Anatomie des Halses, hervorgerufen durch Strahlentherapie, chirurgische Eingriffe und große Tumormassen, ist die Durchführung einer wachen Videolaryngoskopie schwierig oder unmöglich. Obligatorisch für die Umsetzung einer erfolgreichen, wachen Videolaryngoskopie sind suffiziente topische Anästhesie und eine differenzierte Sedierung. Die Herausforderung hier ist die Balance zwischen dem Erhalt der Spontanatmung und dem Erreichen möglichst optimaler Intubationsbedingungen ohne den Verlust der Kontaktfähigkeit des Patienten.Fazit: Wache Videolaryngoskopie kann die flexible Intubationsendoskopie nicht ersetzen. Nicht jeder Patient (und jeder Atemweg!) ist für eine wache Videolaryngoskopie geeignet. Eine sorgfältige Planung, die richtige Wahl des Spatels und genügend Expertise sind für den Erfolg einer wachen Videolaryngoskopie entscheidend.
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© Georg Thieme Verlag Stuttgart · New York

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Auf Knopfdruck Notfall - Gelebtes Risikomanagement im Simulationszentrum

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 708-711
DOI: 10.1055/s-0042-118114

Kinderreanimation, anästhesiologische Zwischenfälle oder Komplikationen während der Geburt – gerade in Ausnahmesituationen fällt es schwer, einen kühlen Kopf zu bewahren. Trainiert werden solche brenzligen Szenarien immer öfter als „Trockenübung" im Patientensimulator. Denn was in der Luftfahrt schon zur Routine gehört, findet auch bei vielen Klinikchefs immer mehr Beachtung. Schließlich ist das Prinzip ganz einfach: den Ernstfall proben, bevor er eintrifft.
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© Georg Thieme Verlag Stuttgart · New York

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Intensivtransport - Grundlagen und Voraussetzungen

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 664-669
DOI: 10.1055/s-0042-106135

Bedingt durch die zunehmend veränderte Kliniklandschaft, die zu einer Reduktion der klinischen Einrichtungen v.a. in ländlichen Regionen und damit neben eingeschränkter Versorgungsoptionen in der Peripherie auch zu einer zentralisierten klinischen Versorgung führt, kommt dem Interhospitaltransfer eine immer grösser werdende Bedeutung zu. Spezialisierte Zentren haben durch diese Zentralisierung der klinischen Versorgung immer größere Einzugsgebiete. Dabei nehmen nicht nur die Anzahl der Transporte, sondern auch die Transportstrecken in den letzten Jahren kontinuierlich zu. Man unterscheidet zentripetale Transporte in die Zentren der Maximal- und Schwerpunktversorgung von zentrifugalen Transporten zurück in periphere Kliniken, Weaningeinrichtungen oder (Früh-) Rehabilitationseinrichtungen. Insbesondere bei Letzteren ist die Anzahl der noch unter intensivmedizinischen Bedingungen zu transportierenden Patienten deutlich angestiegen.
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© Georg Thieme Verlag Stuttgart · New York

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Levosimendan bei septischem Schock ohne Vorteile

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 712-712
DOI: 10.1055/s-0042-119928


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© Georg Thieme Verlag Stuttgart · New York

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Quiz intensiv - Stellen Sie die Diagnose!

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 676-679
DOI: 10.1055/s-0042-116623



© Georg Thieme Verlag Stuttgart · New York

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Telemedizin bei Herzschwäche: Patienten fühlen sich besser

Anästhesiol Intensivmed Notfallmed Schmerzther 2016; 51: 712-712
DOI: 10.1055/s-0042-119930


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© Georg Thieme Verlag Stuttgart · New York

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Contralesional Corticomotor Neurophysiology in Hemiparetic Children With Perinatal Stroke: Developmental Plasticity and Clinical Function

Background. Perinatal stroke causes most hemiparetic cerebral palsy. Ipsilateral connections from nonlesioned hemisphere to affected hand are common. The nonlesioned primary motor cortex (M1) determines function and is a potential therapeutic target but its neurophysiology is poorly understood. Objective. We aimed to characterize the neurophysiological properties of the nonlesioned M1 in children with perinatal stroke and their relationship to clinical function. Methods. Fifty-two participants with hemiparetic cerebral palsy and magnetic resonance imaging–confirmed perinatal stroke and 40 controls aged 8 to 18 years completed the same transcranial magnetic stimulation (TMS) protocol. Single-pulse TMS to nonlesioned M1 determined rest and active motor thresholds (RMT/AMT), motor-evoked potential (MEP) latencies, and stimulus recruitment curves (SRC: 100%-150% RMT). Paired-pulse TMS evaluated short-latency intracortical inhibition (SICI) and intracortical facilitation (ICF). Ipsilateral (IP) participants (ipsilateral MEP ≥0.05 mV in ≥5/20 trials) were compared with contralateral MEP only, nonipsilateral (NI) participants. Assisting Hand and Melbourne assessments quantified clinical function. Results. Twenty-five IP were compared with 13 NI (n = 38, median age 12 years, 66% male). IP had lower motor function. SRC to unaffected hand were comparable between IP and NI while IP had smaller ipsilateral SRC. Ipsilateral MEP latencies were prolonged (23.5 ± 1.8 vs 22.2 ± 1.5 ms contra, P < .001). Contralateral SICI was different between IP (–42%) and NI (–20%). Ipsilateral SICI was reduced (–20%). Contralateral ICF was comparable between groups (+43%) and ipsilaterally (+43%). Measures correlated between contralateral and ipsilateral sides. Conclusion. Neurophysiology of nonlesioned M1 and its relationship to motor function is measureable in children with perinatal stroke. Correlation of excitability and intracortical circuitry measures between contralateral and ipsilateral sides suggests common control mechanisms.



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A Rehabilitation-Internet-of-Things in the Home to Augment Motor Skills and Exercise Training

Although motor learning theory has led to evidence-based practices, few trials have revealed the superiority of one theory-based therapy over another after stroke. Nor have improvements in skills been as clinically robust as one might hope. We review some possible explanations, then potential technology-enabled solutions. Over the Internet, the type, quantity, and quality of practice and exercise in the home and community can be monitored remotely and feedback provided to optimize training frequency, intensity, and progression at home. A theory-driven foundation of synergistic interventions for walking, reaching and grasping, strengthening, and fitness could be provided by a bundle of home-based Rehabilitation Internet-of-Things (RIoT) devices. A RIoT might include wearable, activity-recognition sensors and instrumented rehabilitation devices with radio transmission to a smartphone or tablet to continuously measure repetitions, speed, accuracy, forces, and temporal spatial features of movement. Using telerehabilitation resources, a therapist would interpret the data and provide behavioral training for self-management via goal setting and instruction to increase compliance and long-term carryover. On top of this user-friendly, safe, and conceptually sound foundation to support more opportunity for practice, experimental interventions could be tested or additions and replacements made, perhaps drawing from virtual reality and gaming programs or robots. RIoT devices continuously measure the actual amount of quality practice; improvements and plateaus over time in strength, fitness, and skills; and activity and participation in home and community settings. Investigators may gain more control over some of the confounders of their trials and patients will have access to inexpensive therapies.



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Clinically Important Difference of the Arm Motor Ability Test in Stroke Survivors

Background. The Arm Motor Ability Test (AMAT) is used to assess and quantify upper-extremity (UE) functional limitation in stroke and other conditions. However, the AMAT score change indicative of important and clinically meaningful change has not been determined. Objective. To determine the clinically important difference (CID) for the AMAT for individuals with stroke exhibiting mild to moderate hemiparesis. Methods. A total of 146 chronic stroke survivors exhibiting stable, mild to moderate UE hemiparesis were administered the AMAT before and after interventions targeting their affected UEs. Patients and treating therapists rated perceived amount of UE motor recovery for each participant on a global rating of change (GROC) scale evaluating several facets of UE movement (grasp, release, move the affected UE, perform 5 important functional tasks, overall UE function). Estimated CID of the Functional Ability Scale of the AMAT was calculated using the receiver operating characteristics curve with the GROC scale as the anchor. Distribution-based methods were also used to estimate the CID. Results. Mean baseline, postintervention, and change in AMAT values for all participants were 3.0 (0.68), 3.3 (0.73), and 0.33 (0.43) respectively. The CID was estimated as an improvement of 0.32 to 0.42 when anchored by the therapist's perception of improvement and 0.29 to 0.40 when anchored by the patient's perception of improvement. The CID using distribution-based methods ranged from 0.40 to 0.44. Conclusions. A change of 0.44 or greater on the AMAT indicates a clinically meaningful improvement in UE functional movements. Clinicians should use this value to determine goals and interpret change scores.



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Monte Carlo simulations of the gamma-ray exposure rates of common rocks

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Publication date: Available online 24 November 2016
Source:Journal of Environmental Radioactivity
Author(s): Daniel A. Haber, Russell L. Malchow, Pamela C. Burnley
Monte Carlo simulations have been performed to model the gamma ray emission and attenuation properties of common rocks. In geologic materials, 40K, 238U, and 232Th are responsible for most gamma ray production. If the concentration of these radioelements and attenuation factors such as degree of water saturation are known, an estimate of the gamma-ray exposure rate can be made. The results show that there are no significant differences in gamma-ray screening between major rock types. If the total number of radionuclide atoms are held constant then the major controlling factor is density of the rock. Finally, the thickness of regolith or soil overlying rock can be estimated by modeling the exposure rate if the radionuclide contents of both materials are known.



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Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

Abstract

Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further complicating the diagnostic process. In this study, we applied genomic tools in the form of a multi-gene panel as well as whole-exome sequencing on unselected cohort of pediatric cataract (166 patients from 74 families). Mutations in previously reported cataract genes were identified in 58% for a total of 43 mutations, including 15 that are novel. GEMIN4 was independently mutated in families with a syndrome of cataract, global developmental delay with or without renal involvement. We also highlight a recognizable syndrome that resembles galactosemia (a fulminant infantile liver disease with cataract) caused by biallelic mutations in CYP51A1. A founder mutation in RIC1 (KIAA1432) was identified in patients with cataract, brain atrophy, microcephaly with or without cleft lip and palate. For non-syndromic pediatric cataract, we map a novel locus in a multiplex consanguineous family on 4p15.32 where exome sequencing revealed a homozygous truncating mutation in TAPT1. We report two further candidates that are biallelically inactivated each in a single cataract family: TAF1A (cataract with global developmental delay) and WDR87 (non-syndromic cataract). In addition to positional mapping data, we use iSyTE developmental lens expression and gene-network analysis to corroborate the proposed link between the novel candidate genes and cataract. Our study expands the phenotypic, allelic and locus heterogeneity of pediatric cataract. The high diagnostic yield of clinical genomics supports the adoption of this approach in this patient group.



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Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution

Abstract

Human evolution is marked by a continued enlargement of the brain. Previous studies on human brain evolution focused on identifying sequence divergences of brain size regulating genes between humans and nonhuman primates. However, the evolutionary pattern of the brain size regulating genes during recent human evolution is largely unknown. We conducted a comprehensive analysis of the brain size regulating gene CASC5 and found that in recent human evolution, CASC5 has accumulated many modern human specific amino acid changes, including two fixed changes and six polymorphic changes. Among human populations, 4 of the 6 amino acid polymorphic sites have high frequencies of derived alleles in East Asians, but are rare in Europeans and Africans. We proved that this between-population allelic divergence was caused by regional Darwinian positive selection in East Asians. Further analysis of brain image data of Han Chinese showed significant associations of the amino acid polymorphic sites with gray matter volume. Hence, CASC5 may contribute to the morphological and structural changes of the human brain during recent evolution. The observed between-population divergence of CASC5 variants was driven by natural selection that tends to favor a larger gray matter volume in East Asians.



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Predominant slow EEG activity in healthy neonates: Transient thalamo-cortical dysrhythmia?

In healthy preterm- and term-born infants, EEG recorded during the days and weeks following birth comprises a relatively high degree of slow, delta activity (<4 Hz; e.g. Bell et al., 1991; Victor et al., 2005). This is substantially different from adult EEG, wherein alpha (8-12 Hz) is the dominant activity in healthy controls and predominant delta activity is characteristic of cerebral pathophysiology (e.g. Finnigan et al., 2016). The neurodevelopmental underpinnings and significance of this high degree of delta activity in healthy neonates, remains unclear and is the focus of this correspondence.

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Provider Perspectives on Adding Biomarker Screening for Tobacco Smoke Exposure to Lead Screening at Well-Child Visits

Measurement of cotinine, a biomarker of tobacco smoke exposure, can accurately identify children at risk of health consequences from secondhand smoke. This study reports perspectives from pediatric health care providers on incorporating routine cotinine screening into well-child visits.

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Evaluation of stability and validation of reference genes for RT-qPCR expression studies in rice plants under water deficit

Abstract

Many studies use strategies that allow for the identification of a large number of genes expressed in response to different stress conditions to which the plant is subjected throughout its cycle. In order to obtain accurate and reliable results in gene expression studies, it is necessary to use reference genes, which must have uniform expression in the majority of cells in the organism studied. RNA isolation of leaves and expression analysis in real-time quantitative polymerase chain reaction (RT-qPCR) were carried out. In this study, nine candidate reference genes were tested, actin 11 (ACT11), ubiquitin conjugated to E2 enzyme (UBC-E2), glyceraldehyde-3-phosphate dehydrogenase (GAPDH), beta tubulin (β-tubulin), eukaryotic initiation factor 4α (eIF-4α), ubiquitin 10 (UBQ10), ubiquitin 5 (UBQ5), aquaporin TIP41 (TIP41-Like) and cyclophilin, in two genotypes of rice, AN Cambará and BRS Querência, with different levels of soil moisture (20%, 10% and recovery) in the vegetative (V5) and reproductive stages (period preceding flowering). Currently, there are different softwares that perform stability analyses and define the most suitable reference genes for a particular study. In this study, we used five different methods: geNorm, BestKeeper, ΔCt method, NormFinder and RefFinder. The results indicate that UBC-E2 and UBQ5 can be used as reference genes in all samples and softwares evaluated. The genes β-tubulin and eIF-4α, traditionally used as reference genes, along with GAPDH, presented lower stability values. The gene expression of basic leucine zipper (bZIP23 and bZIP72) was used to validate the selected reference genes, demonstrating that the use of an inappropriate reference can induce erroneous results.



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Landmark reading alterations in patients with gastro-oesophageal reflux symptoms undergoing diagnostic gastroscopy

Publication date: Available online 23 November 2016
Source:Arab Journal of Gastroenterology
Author(s): Mustafa Kaplan, Alpaslan Tanoglu, Yusuf Serdar Sakin, Taner Akyol, Kemal Oncu, Muammer Kara, Yusuf Yazgan
Background and study aimsThere is still a debate about the exact measurement of the oesophagogastric junction and the diaphragmatic hiatus among clinicians. The aim of this study was to investigate the differences between landmark readings of gastroscopy on intubation and extubation, and to correlate these readings with a gastro-oesophageal reflux questionnaire.Patients and methods116 cases who underwent diagnostic gastroscopy between January 2013 and June 2013 were included in this study. Landmark measurements were noted while withdrawing the endoscope and were also evaluated after the gastric air was fully emptied. We first used a frequency scale for the gastro-oesophageal reflux disease symptoms (FSSG) questionnaire in order to investigate dysmotility and acid reflux symptoms in the study population and correlated the FSSG questionnaire with intubation and extubation measurements at endoscopic examination.ResultsMean age of included subjects was 49.41±17.7 (19–82) years. Males and females were equally represented. On FSSG scores, the total dysmotility score was 7.99±5.06 and the total score was 15.18±10.11. The difference between intubation and extubation measurements ranged from −3cm to +2cm (mean: −0.4). When an FSSG score of 30 was accepted as a cut-off value, we detected a significant difference between the measurements (p<0.05; t: 0.048).ConclusionAccuracy of landmark measurements during gastroscopy is clearly affected from insertion or withdrawal of the endoscope. When differences in measurements between insertion and withdrawal were evident, comparable with the FSSG scores, the results became significantly different. In conclusion, according to FSSG scores, these measurements should be performed at the end of the endoscopy.



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Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure

imageBackground: Mitochondrial liver disease (MLD), and in particular mitochondrial DNA (mtDNA) depletion syndrome (MDS) is an important cause of acute liver failure (ALF) in infancy. Early and accurate diagnosis is important because liver transplantation (LT) is often contraindicated. It is unclear which methods are the best to diagnose MLD in the setting of ALF. Objective: The aim of the study was to determine the incidence of MLD in children younger than 2 years with ALF and the utility of routine investigations to detect MLD. Methods: Thirty-nine consecutive infants with ALF were admitted to a single unit from 2009 to 2011. All were extensively investigated using an established protocol. Genes implicated in mitochondrial DNA depletion syndrome were sequenced in all cases and tissue mtDNA copy number measured where available. Results: Five infants (17%) had genetically proven MLD: DGUOK (n = 2), POLG (n = 2), and MPV17 (1). Four of these died, whereas 1 recovered. Two had normal muscle mtDNA copy number and 3 had normal muscle respiratory chain enzymes. An additional 8 children had low hepatic mtDNA copy number but pathogenic mutations were not detected. One of these developed fatal multisystemic disease after LT, whereas 5 who survived remain well without evidence of multisystemic disease up to 6 years later. Magnetic resonance spectroscopy did not distinguish between those with and without MLD. Conclusions: Low liver mtDNA copy number may be a secondary phenomenon in ALF. Screening for mtDNA maintenance gene mutations may be the most efficient way to confirm MLD in ALF in the first 2 years of life.

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Swirling Fat

imageNo abstract available

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Influence of Partial External Biliary Diversion on the Lipid Profile in Children With Progressive Familial Intrahepatic Cholestasis

imageObjectives: The concentration of bile acids is highly increased in progressive familial intrahepatic cholestasis (PFIC). Bile acids are the end products of cholesterol metabolism, and aid in the absorption of fat-soluble vitamins and dietary fat. The aim of our study was to investigate lipid metabolism in patients with PFIC with focus on the effect of partial external biliary diversion (PEBD). Methods: In 26 patients with PFIC, who underwent PEBD surgery at the median age of 2.2 years (range: 0.4–16.6), we analyzed the concentrations of lipids and apolipoproteins both before and 6 months after PEBD. Patients were split into 2 groups according to the outcome of surgery (either "good" or "poor"), and were analyzed separately. A "good" result following surgery was defined as complete relief from pruritus, and normalization of total bilirubin (190 mg/dL) in 13 patients, phospholipids were increased (>250 mg/dL) in 5 patients, and triglyceride concentration was increased (>150 mg/dL) in 13 patients. After PEBD, the concentrations of plasma cholesterol, triglycerides, and phospholipids decreased significantly, whereas, ApoA-I and high-density lipoprotein cholesterol concentrations increased and the concentrations of apolipoprotein B, low-density lipoprotein cholesterol, and very low-density lipoprotein cholesterol significantly decreased. PEBD had neither an effect on ApoE concentration nor on lecithin-cholesterol acyl transferase activity. In the group with a "poor" outcome report following PEBD, total serum cholesterol concentration decreased significantly, and no effect on the concentrations of triglycerides and phospholipids were observed. Conclusions: Patients with PFIC present with a high risk of lipid disturbances. PEBD has a beneficial effect on lipid profile in the majority of cases.

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Predictors of Pouchitis After Ileal Pouch-Anal Anastomosis in Children

No abstract available

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The Natural History of Primary Sclerosing Cholangitis in Children: A Large Single-Center Longitudinal Cohort Study

imageObjectives: Data regarding pediatric primary sclerosing cholangitis (PSC) natural history are limited. We describe a large pediatric PSC cohort with longitudinal follow-up. Methods: The present study records review of pediatric patients with PSC diagnosed between 1984 and 2014. Results: N = 120 (63% M) ages 1 to 21 years (median 14 years) at diagnosis. 27% (31/113) had autoimmune sclerosing cholangitis (ASC), 24% had exclusive small duct PSC, METAVIR stage was F3-F4 in 41%. Eighty-one percent of patients with PSC had inflammatory bowel disease (IBD); most had ulcerative/indeterminate colitis (72/97), typically pancolitis (40/72). PSC-IBD was more common than ASC-IBD (85% vs 68%, P = 0.03). Median follow-up was 3.7 years (interquartile range [IQR] 1.5, 6.9). Median gamma glutamyl transferase decreased from baseline of 221 U/L (IQR 110, 425) to 104 U/L by 1 year postdiagnosis ([IQR 18,229], P 

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Congenital Vascular Malformations of the Liver: An Association With Trisomy 21

imageABSTRACT: A link between congenital vascular malformation (CVM) of the liver and trisomy 21 has been suggested. We reviewed all children with trisomy 21 referred for investigation to a specialist pediatric hepatobiliary unit (1985–2015). Forty-five children with trisomy 21 were identified; 7 (15%) had a defined CVMs (4 girls). All such infants were also diagnosed with a range of cardiac defects. CVMs were divided according to the nature of the vascular connection. Group (i) (n = 3): Abnormal venovenous anomaly. This included portocaval shunt and patent ductus venosus (n = 2). Group (ii) (n = 4): Involvement of all 3 vascular systems. Two infants had arterioportal hypertension caused by hepatic arteries feeding into a left portal vein aneurysm within the umbilical fissure. Two infants had more complex hepatic artery to hepatic vein shunts developing early cardiorespiratory failure with progressive jaundice. Our series shows a clear association between cardiac anomalies and CVM in children with trisomy 21.

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Oral Tocofersolan Corrects or Prevents Vitamin E Deficiency in Children With Chronic Cholestasis

imageObjectives: D-Alpha-tocopheryl polyethylene glycol 1000 succinate (Tocofersolan, Vedrop), has been developed in Europe to provide an orally bioavailable source of vitamin E in children with cholestasis. The aim was to analyze the safety/efficacy of Vedrop in a large group of children with chronic cholestasis. Methods: Two hundred seventy-four children receiving Vedrop for vitamin E deficiency or for its prophylaxis were included from 7 European centers. Median age at treatment onset was 2 months and median follow-up was 11 months. Vedrop was prescribed at a daily dose of 0.34 mL/kg (25 IU/kg) of body weight. Three methods were used to determine a sufficient serum vitamin E status: vitamin E, vitamin E/(total cholesterol), vitamin E/(total cholesterol + triglycerides). Results: Before Vedrop therapy, 51% of children had proven vitamin E deficiency, 30% had normal vitamin E status and 19% had an unknown vitamin E status. During the first months of treatment, vitamin E status was restored in the majority of children with insufficient levels at baseline (89% had a normal status at 6 months). All children with a normal baseline vitamin E status had a normal vitamin E status at 6 months. Among children with an unknown vitamin E status at baseline, 93% had a normal vitamin E status at 6 months. A sufficient vitamin E status was observed in 80% of children with significant cholestasis (serum total bilirubin >34.2 μmol/L). No serious adverse reaction was reported. Conclusions: Vedrop seems a safe and effective oral formulation of vitamin E that restores and/or maintains sufficient serum vitamin E level in the majority of children with cholestasis, avoiding the need for intramuscular vitamin E injections.

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Concomitant Fundoplication With Gastrostomy: A Two-State Comparison Showing Continued Use of Reflux Medications

imageObjectives: We sought to determine whether practice differences for fundoplication exist between 2 geographically distinct states, and to determine the reflux medication use pattern associated with concomitant fundoplication. Methods: A retrospective observational cohort study of children in Colorado (CO) and North Carolina (NC) insured by Medicaid from 2006 to 2008. Children who received a surgical gastrostomy during the study period were included, and our primary outcome measure was the performance of a concomitant gastric fundoplication. Thirty-day prescription fills for reflux medications were examined before and after gastrostomy procedure. Results: We examined 969 surgical gastrostomy admission in both states over the 3-year study period (CO, n = 341 and NC, n = 628). Patients in each state had similar age (median age, 6 months, P = 0.97). Use of pH probe (CO: 15%, NC: 11%) and diagnosis of reflux (CO: 84%, NC: 72%) differed in each state. Concomitant fundoplication was performed in 60% of patients in CO and 43% in NC (P 

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Gastrointestinal Symptoms Predictors of Health-Related Quality of Life in Patients With Inflammatory Bowel Disease

imageObjectives: The aim of the study was to investigate the multidimensional gastrointestinal symptoms predictors of generic health-related quality of life (HRQOL) in pediatric patients with inflammatory bowel disease from the perspectives of pediatric patients and parents. Methods: The Pediatric Quality of Life Inventory Gastrointestinal Symptoms Scales and Pediatric Quality of Life Inventory 4.0 Generic Core Scales were completed in a 9-site study by 260 families of patients with inflammatory bowel disease. Gastrointestinal Symptoms Scales measuring stomach pain, food and drink limits, gas and bloating, constipation, blood in stool, and diarrhea were identified as clinically important symptom differentiators from healthy controls based on prior findings, and subsequently tested for bivariate and multivariate linear associations with overall HRQOL (Generic Core Scales). Results: Stomach pain, food and drink limits, gas and bloating, constipation, blood in stool, and diarrhea were significantly associated with decreased HRQOL in bivariate analyses (P 

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Mutation in Actin γ-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients

imageABSTRACT: The aim of this study was to identify the underlying molecular mechanism for the development of megacystis microcolon intestinal hypoperistalsis syndrome in 4 Chinese patients. We found a c.770G>A (p.R257H) mutation in 3 patients, and a c.769C>T (p.R257C) mutation in the fourth patient by using whole-exome sequencing and targeted Sanger sequencing. The immunohistochemical investigation and transmission electron microscopy revealed an apparent defect of the intestinal smooth muscle, and hypoganglionosis. Our report suggested that R257 variant in the ACTG2 appear to be more frequent in populations of Asian ancestry; mutation of this locus could cause alterations of the intestinal and bladder smooth muscle filaments.

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Complementary and Alternative Medicine in Pediatric Gastroenterology

No abstract available

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Biopsy-Induced Duodenal Hematoma Is Not an Infrequent Complication Favored by Bone Marrow Transplantation

imageObjectives: Intraduodenal hematoma (IDH) is an uncommon complication of endoscopic duodenal biopsy that can cause severe obstruction of the digestive, biliary, or pancreatic tracts. We aimed to analyze the risk factors and outcomes of biopsy-induced IDH in our series. Methods: Between 2010 and 2014, a retrospective chart review was conducted for all children younger than 18 years of age treated for IDH. We collected their data in our tertiary pediatric center and compared them to those of controls matched for age, sex, and pathology. Results: Among 2705 upper nontherapeutic endoscopies and 1163 duodenal biopsies, 7 IDH occurred in 6 children suspected of developing graft-versus-host disease (GVHD) after bone marrow transplantation (BMT) and in 1 patient with Noonan syndrome. The IDH prevalence was significantly higher after BMT compared to children who did not undergo grafting (7% vs 0.1%; P = 7.9 × 10−7; odds ratio = 82). After a median delay of 48 hours, patients developed intestinal obstruction with abdominal pain and vomiting. The diagnosis was confirmed by using ultrasonography or computed tomography scans. Acute pancreatitis was determined in 3 out of 7 patients. Conservative treatment allowed complete resolution in all patients. Conclusions: IDH is not an infrequent complication of endoscopic duodenal biopsy, especially in patients who undergo BMT. Endoscopists should be especially careful during the duodenal biopsy procedure in these patients. With no early perforation due to post-biopsy IDH reported, the prognosis is good and conservative management generally leads to resolution of the symptoms in 2 to 3 weeks.

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