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https://www.readbyqxmd.com/read/29150902/wieacker-wolff-syndrome-with-associated-cleft-palate-in-a-female-case
#1
Natalie D Godfrey, Samandar Dowlatshahi, Madelena M Martin, Douglas M Rothkopf
Wieacker-Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. It is traditionally described in males as an X-linked recessive disorder associated with congenital contractures of the feet, progressive neurologic muscular atrophy, and intellectual delay caused by ZC4H2 mutations. The purpose of this paper is to present a female individual with a classic phenotype and cleft palate, a previously undescribed finding in this syndrome. Recent reports have demonstrated that females are rarely severely affected and phenotypic expression is difficult to predict [Zanzottera et al...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#2
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150890/suspended-animation-the-past-present-and-future-of-major-cardiothoracic-trauma
#3
REVIEW
Syed Mohiyaddin, Prakash Nanjaiah, Ahmed O Saad, Metesh N Acharya, Tanveer A Khan, Rhodri H Davies, Saeed Ashraf
About 50% of the trauma victims die at the scene mostly because of exsanguinating haemorrhage. Most trials of resuscitation fail in face of the ongoing bleeding. Ongoing research/studies to save these victims by inducing rapid hypothermia using cardiopulmonary bypass as an emergency initial measure along with delayed resuscitation show improved outcomes. A comprehensive review of this research and analysis of studies showed that rapid induction of hypothermia within 5 min of cardiac arrest is associated with better survival and improved neurological outcome...
November 18, 2017: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/29150888/systematic-review-of-disparities-in-surgical-care-for-m%C3%A4-ori-in-new-zealand
#4
REVIEW
Jamie-Lee Rahiri, Zanazir Alexander, Matire Harwood, Jonathan Koea, Andrew G Hill
BACKGROUND: Health equity for Indigenous peoples in the context of surgery has recently become topical amongst surgeons in Australasia. Health inequities are amongst the most consistent and compelling disparities between Māori and New Zealand Europeans (NZE) in New Zealand (NZ). We aimed to investigate where ethnic disparities in surgical care may occur and highlight some of the potential contributing factors, over all surgical specialties, between Māori and NZE adults in NZ. METHODS: A systematic review was performed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement...
November 18, 2017: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/29150872/predicting-the-onset-of-freezing-of-gait-a-longitudinal-study
#5
Kaylena A Ehgoetz Martens, Emily L Lukasik, Matthew J Georgiades, Moran Gilat, Julie M Hall, Courtney C Walton, Simon J G Lewis
BACKGROUND: Freezing of gait is a disabling symptom of Parkinson's disease that ultimately affects approximately 80% of patients, yet very little research has focused on predicting the onset of freezing of gait and tracking the longitudinal progression of symptoms prior to its onset. The objective of the current study was to examine longitudinal data spanning the transition period when patients with PD developed freezing of gait to identify symptoms that may precede freezing and create a prediction model that identifies those "at risk" for developing freezing of gait in the year to follow...
November 18, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29150830/does-preoperative-use-of-dutasteride-decrease-bleeding-during-open-prostatectomy
#6
Arif Demirbas, Berkan Resorlu, Murat Tolga Gulpinar, Sina Kardas, Omer Gokhan Doluoglu, Abdulkadir Tepeler, Muhammet Fatih Kilinc, Tolga Karakan, Serkan Ozcan
PURPOSE: To investigate whether use of dutasteride, a 5-alpha reductase inhibitor, for at least four weeks preoperatively affected the blood loss during open prostatectomy (OP). MATERIALS AND METHODS: Retrospective analysis was made of the data of 110 patients who had undergone OP. Group I comprised 50 patients that used dutasteride for 4 weeks preoperatively, and Group II comprised 60 patients that did not use the drug. The groups were compared in respect of age, total prostate specific antigen (TPSA) levels, prostate volumes, preoperative hemoglobin (Hgb) and hematocrit (Hct) levels, postoperative reduction of Hgb and Hct, percentage reduction in Hgb and Hct, and the administration of postoperative blood products...
November 15, 2017: Urology Journal
https://www.readbyqxmd.com/read/29150791/16-channel-flexible-system-to-measure-electrophysiological-properties-of-bioengineered-hearts
#7
Betsy H Salazar, Kristopher A Hoffman, Anilkumar K Reddy, Sridhar Madala, Ravi K Birla
As tissue engineering continues to mature, it is necessary to develop new technologies that bring insight into current paradigms and guide improvements for future experiments. To this end, we have developed a system to characterize our bioartificial heart model and compare them to functional native structures. In the present study, the hearts of adult Sprague-Dawley were decellularized resulting in a natural three-dimensional cardiac scaffold. Neonatal rat primary cardiac cells were then cultured within a complex 3D fibrin gel, forming a 3-dimensional cardiac construct, which was sutured to the acellular scaffold and suspended in media for 24-48 h...
November 17, 2017: Cardiovascular Engineering and Technology
https://www.readbyqxmd.com/read/29150760/slow-passage-through-a-hopf-bifurcation-in-excitable-nerve-cables-spatial-delays-and-spatial-memory-effects
#8
L M Bilinsky, S M Baer
It is well established that in problems featuring slow passage through a Hopf bifurcation (dynamic Hopf bifurcation) the transition to large-amplitude oscillations may not occur until the slowly changing parameter considerably exceeds the value predicted from the static Hopf bifurcation analysis (temporal delay effect), with the length of the delay depending upon the initial value of the slowly changing parameter (temporal memory effect). In this paper we introduce new delay and memory effect phenomena using both analytic (WKB method) and numerical methods...
November 17, 2017: Bulletin of Mathematical Biology
https://www.readbyqxmd.com/read/29150757/invisible-side-of-emotions-somato-motor-responses-to-affective-facial-displays-in-alexithymia
#9
Cristina Scarpazza, Elisabetta Làdavas, Luigi Cattaneo
According to recent theories, the detection of emotions involves somatic experiences. In this study, we investigated the relation between somatic responses to affective stimuli, emotion perception, and alexithymia. Variations in automatic rapid facial reactions (RFRs) were measured in a selected population of participants with high and low levels of alexithymia (HA and LA, respectively). Electromyographic activity was recorded from the corrugator supercilii and the zygomaticus major, while participants performed a gender classification task on faces expressing various emotional states...
November 17, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/29150648/shedding-light-on-the-neonatal-brain-probing-cerebral-hemodynamics-by-diffuse-optical-spectroscopic-methods
#10
Parisa Farzam, Erin M Buckley, Pei-Yi Lin, Katherine Hagan, P Ellen Grant, Terrie Eleanor Inder, Stefan A Carp, Maria Angela Franceschini
Investigating the cerebral physiology of healthy term newborns' brains is important for better understanding perinatal brain injuries, of which the most common etiologies are hypoxia and ischemia. Hence, cerebral blood flow and cerebral oxygenation are important biomarkers of brain health. In this study, we employed a hybrid diffuse optical system consisting of diffuse correlation spectroscopy (DCS) and frequency-domain near infrared spectroscopy (FDNIRS) to measure hemoglobin concentration, oxygen saturation, and indices of cerebral blood flow and metabolism...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29150638/the-kohlsch%C3%A3-tter-t%C3%A3-nz-syndrome-associated-gene-rogdi-encodes-a-novel-presynaptic-protein
#11
Donatus Riemann, Rebecca Wallrafen, Thomas Dresbach
Mutations in the human homolog of the Drosophila gene Rogdi cause Kohlschütter-Tönz syndrome. This disorder is characterised by amelogenesis imperfecta, as well as severe neurological symptoms including epilepsy and psychomotor delay. However, little is known about the protein encoded by Rogdi, and hence the pathogenic mechanisms underlying Kohlschütter-Tönz syndrome have remained elusive. Using immunofluorescence of rat cultured hippocampal neurons and brain sections we find that Rogdi is enriched at synaptic sites...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29150620/the-role-of-forelimb-motor-cortex-areas-in-goal-directed-action-in-mice
#12
Karin Morandell, Daniel Huber
Mammalian motor cortex consists of several interconnected subregions thought to play distinct roles in voluntary movements, yet their specific role in decision making and execution is not completely elucidated. Here we used transient optogenetic inactivation of the caudal forelimb area (CFA) and rostral forelimb area (RFA) in mice as they performed a directional joystick task. Based on a vibrotactile cue applied to their forepaw, mice were trained to push or pull a joystick after a delay period. We found that choice and execution are temporally segregated processes...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29150514/sinorhizobium-meliloti-glutathione-reductase-is-required-for-both-redox-homeostasis-and-symbiosis
#13
Guirong Tang, Ningning Li, Yumin Liu, Liangliang Yu, Junhui Yan, Li Luo
Glutathione (L-γ-glutamyl-L-cysteinylglycine; GSH), one of the key antioxidants in Sinorhizobium meliloti, is required for the development of alfalfa (Medicago sativa) nitrogen-fixing nodules. Glutathione exists either in a reduced form (GSH) or an oxidized form (GSSG), and its content is regulated by two pathways in S. meliloti The first pathway is the de novo synthesis of glutathione from its constituent amino acids, namely, Glu, Cys, and Gly, catalyzed by γ-glutamyl cysteine synthetase (GshA) and glutathione synthetase (GshB)...
November 17, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29150427/delayed-encounter-of-parental-genomes-can-lead-to-aneuploidy-in-saccharomyces%C3%A2-cerevisiae
#14
Alan Michael Tartakoff, David Dulce, Elizabeth Landis
We have investigated an extreme deviation from the norm of genome unification that occurs during mating in the yeast, Saccharomyces cerevisiae This deviation is encountered when yeast that carry a mutation of the spindle pole body protein, Kar1, are mated with wildtype cells. In this case, nuclear fusion is delayed and the genotypes of a fraction of zygotic progeny suggest that chromosomes have "transferred" between the parental nuclei in zygotes. This classic yet bizarre occurrence is routinely used to generate aneuploid (disomic) yeast...
November 17, 2017: Genetics
https://www.readbyqxmd.com/read/29150237/-maternal-deaths-due-to-amniotic-fluid-embolism-results-from-the-french-confidential-enquiry-into-maternal-deaths-2010-2012
#15
E Morau, A Proust, J-C Ducloy
Amniotic fluid embolism (AFE) is an unpredictable, dreadful complication of pregnancy or childbirth. EA typically includes in the same lapse of time respiratory, haemodynamic, neurological and hemorrhagic symptoms (from early and severe coagulopathy). Immediate supportive treatment by a multidisciplinary team is the cornerstone of the management. Between 2010 an 2012 in France, 24 deaths were related to AFE giving a maternal mortality ratio of 1/100,000 live births (CI 95% 0.6-1.4). AFE ranks as the second leading cause of direct maternal death...
November 14, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/29150153/-dermatologic-surgery-hemophilia-and-von-willebrand-disease
#16
M Say, N Dupin, N Stieltjes, M-F Avril, S Aractingi, J Chanal
BACKGROUND: Von Willebrand disease (VWD) and hemophilia A and B are the most common types of hereditary coagulation-factor deficiencies. The frequency and type of complications of skin surgery in these patients are unknown. The increasing incidence of skin cancer prompted us to reflect upon this issue. While the incidence of skin cancer is increasing, the complications of skin surgery or ablative laser treatment remain unknown in this population. AIM: The aim of this study was to determine the frequency of bleeding complications during and after skin surgery in patients with a hereditary coagulation-factor deficiency (hemophilia or VWD)...
November 14, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29149959/urinary-tissue-inhibitor-of-metalloproteinase-and-insulin-like-growth-factor-7-as-early-biomarkers-of-delayed-graft-function-after-kidney-transplantation
#17
J Yang, S Y Lim, M-G Kim, C-W Jung, W-Y Cho, S-K Jo
BACKGROUND: Recently, urinary tissue inhibitor of metalloproteinase-2 (TIMP-2) and insulin-like growth factor-7 (IGFBP-7), markers for G1 cell cycle arrest, have been identified and validated in predicting the development of acute kidney injury in critically ill patients. It is unknown, however, whether these two biomarkers could predict the development of delayed graft function (DGF) after kidney transplantation (KT). METHODS: This is a single-center, prospective, observational study...
November 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/29149919/gastrointestinal-and-hepatic-disease-in-vasculitis
#18
REVIEW
Eric Anderson, Neel Gakhar, Courtney Stull, Liron Caplan
Vasculitis is an inflammatory condition that targets the blood vessels, which may occur in isolation or as a component of a systemic inflammatory condition. Although many of the vasculitides can directly affect the organs of the gastrointestinal system, some types exhibit a proclivity for certain gastrointestinal and hepatic organs. Often a patient presents with nonspecific symptoms, delaying the diagnosis and treatment of the underlying vasculitis. Vasculitis can also present with severe manifestations, such as upper gastrointestinal bleeds and bowel perforation...
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29149870/first-case-report-of-cohen-syndrome-in-the-tunisian-population-caused-by-vps13b-mutations
#19
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa
BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants...
November 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29149808/delayed-hypoxemia-following-traumatic-brain-injury-exacerbates-long-term-behavioral-deficits
#20
McKenzie Davies, Addison Jacobs, David L Brody, Stuart H Friess
Hypoxemia during initial stabilization of patients with severe traumatic brain injury (TBI) has been associated with poorer outcomes. However, the effects of delayed hypoxemia occurring during intensive care following TBI on outcome is unclear. Preclinical models of TBI have rarely shown cognitive or behavioral deficits beyond six weeks post injury and commonly have not included modeling of secondary insults. We have previously developed a murine model of TBI followed by delayed hypoxemia to model the secondary insult of hypoxemia and brain hypoxia occurring in the intensive care setting...
November 17, 2017: Journal of Neurotrauma
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