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https://www.readbyqxmd.com/read/28087192/spontaneous-peritoneal-catheter-knot-formation-a-rare-cause-of-ventriculoperitoneal-shunt-malfunction
#1
Idrees Sher, Shanu Gambhir, Sarah Pinto, Asim Mujic, Jens Peters-Willke, Andrew Hunn
Ventriculoperitoneal (VP) shunting remains invaluable in the management of hydrocephalus. It is a common procedure that can be complicated by shunt malfunction due to infection, blockage and disconnection. Spontaneous peritoneal catheter knot formation causing CSF flow obstruction is a rare phenomenon. We present a case of a 12years old boy with spontaneous knot formation in the peritoneal catheter causing VP shunt obstruction and hydrocephalus.
January 10, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28081274/role-of-methylenetetrahydrofolate-reductase-c677t-and-a1298c-polymorphisms-in-polycystic-ovary-syndrome-risk
#2
J B Wu, J F Zhai, J Yang
Polycystic ovary syndrome is one of the most frequently encountered endocrine malfunctions. Methylenetetrahydrofolate reductase (MTHFR) plays a vital role in folate metabolism, DNA methylation, and RNA synthesis. We carried out a study to investigate the association between MTHFR C677T and A1298C genetic variations and the risk of polycystic ovary syndrome in a Chinese population. We recruited 244 patients and 257 control subjects from an Inner Mongolian Medical University to this hospital-based, case-control study...
December 23, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28076385/the-effect-of-a-novel-c-820c-t-arg274trp-mutation-in-the-mitofusin-2-gene-on-fibroblast-metabolism-and-clinical-manifestation-in-a-patient
#3
Małgorzata Beręsewicz, Anna Boratyńska-Jasińska, Łukasz Charzewski, Maria Kawalec, Dagmara Kabzińska, Andrzej Kochański, Krystiana A Krzyśko, Barbara Zabłocka
Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant axonal peripheral neuropathy caused by mutations in the mitofusin 2 gene (MFN2). Mitofusin 2 is a GTPase protein present in the outer mitochondrial membrane and responsible for regulation of mitochondrial network architecture via the fusion of mitochondria. As that fusion process is known to be strongly dependent on the GTPase activity of mitofusin 2, it is postulated that the MFN2 mutation within the GTPase domain may lead to impaired GTPase activity, and in turn to mitochondrial dysfunction...
2017: PloS One
https://www.readbyqxmd.com/read/28076316/changes-of-thyroid-hormonal-status-in-patients-receiving-ketogenic-diet-due-to-intractable-epilepsy
#4
Engin Kose, Orkide Guzel, Korcan Demir, Nur Arslan
BACKGROUND: Ketogenic diet (KD), which is high in fat and low in carbohydrates, mimics the metabolic state of starvation and is used therapeutically for pharmacoresistant epilepsy. It is known that generation of triiodothyronine (T3) from thyroxine (T4) decreases during fasting periods. The aim of this study was to evaluate the thyroid function of children receiving KD for at least 1 year due to drug-resistant epilepsy. METHODS: A total of 120 patients [63 males, 52...
January 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28074336/small-heat-shock-proteins-in-ageing-and-age-related-diseases
#5
REVIEW
Nikolaos Charmpilas, Emmanouil Kyriakakis, Nektarios Tavernarakis
Small heat shock proteins (sHSPs) are gatekeepers of cellular homeostasis across species, preserving proteome integrity under stressful conditions. Nonetheless, recent evidence suggests that sHSPs are more than molecular chaperones with merely auxiliary role. In contrast, sHSPs have emerged as central lifespan determinants, and their malfunction has been associated with the manifestation of neurological disorders, cardiovascular disease and cancer malignancies. In this review, we focus on the role of sHSPs in ageing and age-associated diseases and highlight the most prominent paradigms, where impairment of sHSP function has been implicated in human pathology...
January 10, 2017: Cell Stress & Chaperones
https://www.readbyqxmd.com/read/28072673/the-use-of-ultrasound-measured-optic-nerve-sheath-diameter-to-predict-ventriculoperitoneal-shunt-failure-in-children
#6
Sophia D Lin, Kimberly R Kahne, Amira El Sherif, Kevin Mennitt, David Kessler, Mary J Ward, Shari L Platt
OBJECTIVE: The goal of this study was to assess the accuracy of ultrasound-measured optic nerve sheath diameter (ONSD) as a screen for ventriculoperitoneal shunt failure. METHODS: We prospectively enrolled a convenience sample of children presenting to the ED with suspected shunt failure. The ONSD was measured by ultrasound and compared with computed tomography/magnetic resonance imaging (CT/MRI) and neurosurgical impression. We defined shunt failure on ultrasound as an ONSD greater than 4...
January 9, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28070119/ocd-like-behavior-is-caused-by-dysfunction-of-thalamo-amygdala-circuits-and-upregulated-trkb-erk-mapk-signaling-as-a-result-of-spred2-deficiency
#7
M Ullrich, M Weber, A M Post, S Popp, J Grein, M Zechner, H Guerrero González, A Kreis, A G Schmitt, N Üçeyler, K-P Lesch, K Schuh
Obsessive-compulsive disorder (OCD) is a common neuropsychiatric disease affecting about 2% of the general population. It is characterized by persistent intrusive thoughts and repetitive ritualized behaviors. While gene variations, malfunction of cortico-striato-thalamo-cortical (CSTC) circuits, and dysregulated synaptic transmission have been implicated in the pathogenesis of OCD, the underlying mechanisms remain largely unknown. Here we show that OCD-like behavior in mice is caused by deficiency of SPRED2, a protein expressed in various brain regions and a potent inhibitor of Ras/ERK-MAPK signaling...
January 10, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28067625/pituitary-adenylate-cyclase-activating-polypeptide-pacap-has-neuroprotective-function-in-dopamine-based-neurodegeneration-developed-in-two-parkinsonian-models
#8
G Maasz, Z Zrinyi, D Reglodi, D Petrovics, A Rivnyak, T Kiss, A Jungling, A Tamas, Z Pirger
It has been observed that pituitary-adenylate cyclase activating polypeptide (PACAP) rescued DAergic neurons from neurodegeneration and improved motor alterations induced by 6-hydroxy-dopamine (6-OHDA) in rat parkinsonian models. Recently we investigated the molecular background of the neuroprotective effect of PACAP in DA-based neurodegeneration using rotenone-induced snail and 6-OHDA-induced rat models of Parkinson's disease. The behavioural activity, monoamine (DA and serotonin), metabolic enzyme (S-COMT, MB-COMT and MAO-B) and PARK7/DJ-1 protein contents were measured before and after PACAP-treatment in both models...
December 22, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28065793/polyglutamine-expansion-of-ataxin-3-alters-its-degree-of-ubiquitination-and-phosphorylation-at-specific-sites
#9
Line V Kristensen, Felix S Oppermann, Matthias J Rauen, Rasmus Hartmann-Petersen, Kenneth Thirstrup
Ubiquitination and phosphorylation of proteins represent post translational modifications (PTMs) capable of regulating a variety of cellular processes. In the neurodegenerative disorder spinocerebellar ataxia type 3 (SCA3), the disease causing protein ataxin-3 carries an expanded polyglutamine (polyQ) stretch causing it to aggregate in nuclear inclusions. These inclusions are decorated with ubiquitin suggestive of a malfunction in the clearance of the mutant protein. Differences in ubiquitin chain topology between normal and polyQ expanded ataxin-3 could be involved in the differential clearance of the two proteins and play a role in SCA3 pathogenesis...
January 5, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28063966/linking-organic-anion-transporting-polypeptide-1b1-and-1b3-oatp1b1-and-oatp1b3-interaction-profiles-to-hepatotoxicity-the-hyperbilirubinemia-use-case
#10
Eleni Kotsampasakou, Sylvia E Escher, Gerhard F Ecker
Hyperbilirubinemia is a pathological condition of excessive accumulation of conjugated or unconjugated bilirubin in blood. It has been associated with neurotoxicity and non-neural organ dysfunctions, while it can also be a warning of liver side effects. Hyperbilirubinemia can either be a result of overproduction of bilirubin due to hemolysis or dyserythropoiesis, or the outcome of impaired bilirubin elimination due to liver transporter malfunction or inhibition. There are several reports in literature that inhibition of organic anion transporting polypeptides 1B1 and 1B3 (OATP1B1 and OATP1B3) might lead to hyperbilirubinemia...
January 4, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28063740/high-density-lipoproteins-biology-epidemiology-and-clinical-management
#11
REVIEW
Hong Y Choi, Anouar Hafiane, Adel Schwertani, Jacques Genest
High-density lipoproteins (HDLs) have multiple pleiotropic effects against arteriosclerosis. Most are independent of the cholesterol mass within HDL particles. Yet, HDL cholesterol (HDL-C) remains a biomarker to assess cardiovascular risk. Whereas the epidemiological association between HDL-C and cardiovascular risk is strong, graded and coherent across populations, Mendelian randomization studies cast doubt on whether HDL-C is causally related to atherosclerotic cardiovascular disease. The apparent failure of HDL-C-raising therapies (fibrates, niacin, and cholesteryl ester transfer protein inhibitors) raises questions about the HDL-C hypothesis...
October 20, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28063609/different-origins-of-hydrocephalus-lead-to-different-shunt-revision-rates
#12
Stefanie Kaestner, Manuela Poetschke, Christian Roth, Wolfgang Deinsberger
INTRODUCTION: Hydrocephalus (HC) occurs due to multiple origins. Time course and dynamic of HC and its therapies differ between underlying pathologies. Different revision rates due to the type of HC are expected. Though hydrocephalus is known to be a life time condition, the lack of shunt malfunction years or decades after initial shunt insertion raises the hope of a superfluous shunt. METHODS: We conducted a retrospective survey of our OR-database during a 10 year period...
November 30, 2016: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28062894/traumatic-intracranial-displacement-of-the-ventriculoperitoneal-valve-chamber-in-a-child-a-report-of-2-cases
#13
Tymon Skadorwa, Bogdan Ciszek
We present two cases of traumatic intracranial migration of the ventriculoperitoneal (VPS) valve chamber without malfunction of the system. In both patients, a shunt reservoir was surgically repositioned without a burr hole expansion and with no implantation of a new VPS system. We discuss a role of a head trauma and repeated valve palpation in this rare complication.
January 6, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28061484/cerebrospinal-fluid-lumbar-tapping-utilization-for-suspected-ventriculoperitoneal-shunt-under-drainage-malfunctions
#14
Jong-Beom Lee, Ho-Young Ahn, Hong-Jae Lee, Ji-Ho Yang, Jin-Seok Yi, Il-Woo Lee
OBJECTIVE: The diagnosis of shunt malfunction can be challenging since neuroimaging results are not always correlated with clinical outcomes. The purpose of this study was to evaluate the efficacy of a simple, minimally invasive cerebrospinal fluid (CSF) lumbar tapping test that predicts shunt under-drainage in hydrocephalus patients. METHODS: We retrospectively reviewed the clinical and radiological features of 48 patients who underwent routine CSF lumbar tapping after ventriculoperitoneal shunt (VPS) operation using a programmable shunting device...
January 1, 2017: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/28060895/a-luciferase-gene-driven-by-an-alphaherpesviral-promoter-also-responds-to-immediate-early-antigens-of-the-betaherpesvirus-hcmv-allowing-comparative-analyses-of-different-human-herpesviruses-in-one-reporter-cell-line
#15
Anna Katharina Maier, Raimund Jung, Clarissa Villinger, Axel Schubert, Paul Walther, Christian Sinzger, Diana Lieber
Widely used methods for quantification of human cytomegalovirus (HCMV) infection in cell culture such as immunoblotting or plaque reduction assays are generally restricted to low throughput and require time-consuming evaluation. Up to now, only few HCMV reporter cell lines have been generated to overcome these restrictions and they are afflicted with other limitations because permanently expandable cell lines are normally not fully permissive to HCMV. In this work, a previously existing epithelial cell line hosting a luciferase gene under control of a Varicella-zoster virus promoter was adopted to investigate HCMV infection...
2017: PloS One
https://www.readbyqxmd.com/read/28058728/untargeted-metabolomic-profiling-of-seminal-plasma-in-non-obstructive-azoospermia-men-a-non-invasive-detection-of-spermatogenesis
#16
Kambiz Gilany, Ahmad Mani-Varnosfaderani, Arash Minai-Tehrani, Fateme Mirzajani, Alireza Ghassempour, Mohammed Reza Sadeghi, Mehdi Amini, Hassan Rezadoost
Male factor infertility is involved in almost half of all infertile couples. Lack of the ejaculated sperm due to testicular malfunction has been reported in 6-10% of infertile, a condition named non-obstructive azoospermia (NOA). In this study, we investigated untargeted metabolomic profiling of the seminal plasma in NOA men using gas chromatography-mass spectrometry (GC-MS) and advance chemometrics. In this regard, the seminal plasma fluids of 11 NOA men with TESE-negative (AZN), 9 NOA men with TESE-positive (AZP) and 10 fertile (F) healthy men (as a control group) were collected...
January 6, 2017: Biomedical Chromatography: BMC
https://www.readbyqxmd.com/read/28052268/microbiota-plays-a-key-role-in-non-steroidal-anti-inflammatory-drug-induced-small-intestinal-damage
#17
Koji Otani, Tetsuya Tanigawa, Toshio Watanabe, Sunao Shimada, Yuji Nadatani, Yasuaki Nagami, Fumio Tanaka, Noriko Kamata, Hirokazu Yamagami, Masatsugu Shiba, Kazunari Tominaga, Yasuhiro Fujiwara, Tetsuo Arakawa
BACKGROUND: Non-steroidal anti-inflammatory drugs (NSAIDs) damage the small intestine by causing multiple erosions and ulcers. However, to date, no established therapies and prophylactic agents are available to treat such damages. We reviewed the role of intestinal microbiota in NSAID-induced intestinal damage and identified potential therapeutic candidates. SUMMARY: The composition of the intestinal microbiota is an important factor in the pathophysiology of NSAID-induced small intestinal damage...
2017: Digestion
https://www.readbyqxmd.com/read/28047140/su-f-t-325-on-the-use-of-bolus-in-dosimetry-and-dose-reduction-for-pacemaker-and-defibrillator
#18
W Liu, D Zhu, S Trumpore, R Kenneth, S Higgins, R Nath, Z Chen
PURPOSE: Special attention is required in planning and administering radiation therapy to patients with cardiac implantable electronic devices (CIEDs), such as pacemaker and defibrillator. The range of dose to CIEDs that can induce malfunction is very large among CIEDs. Significant defects have been reported at dose as low as 0.15Gy. Failures causing discomfort have been reported at dose as low as 0.05Gy. Therefore, accurate estimation of dose to CIED and dose reduction are both important even if the dose is expected to be less than the often-used 2Gy limit...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28045694/forensic-analysis-of-parachute-deaths
#19
Michael Philip Burke, Johannes Chitty
Deaths associated with parachuting are very uncommon. However, these deaths do tend to be "high profile" in the traditional and social media. When forensic pathologists examine the deceased after a fatal parachuting incident, the anatomical cause of death is usually not in question. For most forensic pathologists, it is usually the case that we will have very limited knowledge of parachuting equipment or the mechanics of a typical successful parachute jump. As such, the investigation of the death should involve a multidisciplinary approach with an appropriate expert providing the formal forensic examination of the parachuting equipment...
December 30, 2016: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/28044401/atrioventricular-synchrony-in-the-background-of-ventricular-noise-and-undersensing
#20
Paweł T Matusik, Andrzej Ząbek, Patrycja S Matusik, Barbara Małecka, Jacek Lelakowski
The 24-hr electrocardiogram (ECG) interpretation in patients with double-chamber pacemakers may be challenging. The difficulty increases if not well-known pacemaker algorithm and device malfunction coexist. We show atrial synchronization pace (ASP) in a patient with ventricular lead damage. We provide detailed description of electrocardiogram and intracardiac electrogram. ASP may confuse 24-hr ECG monitoring interpretation, especially in patients with ventricular lead dysfunction.
January 3, 2017: Annals of Noninvasive Electrocardiology
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