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https://www.readbyqxmd.com/read/27917594/a-novel-two-nucleotide-deletion-in-hps6-affects-mepacrine-uptake-and-platelet-dense-granule-secretion-in-a-family-with-hermansky-pudlak-syndrome
#1
Oliver Andres, Verena Wiegering, Eva-Maria König, Anna Lena Schneider, Daniela Semeniak, Simon Stritt, Eva Klopocki, Harald Schulze
BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by oculocutaneous albinism and platelet dysfunction. We report on a novel HPS6 homozygous frameshift variant (c.1919_1920delTC; p.Val640Glyfs*29) in a nonconsanguineous Caucasian family with two affected siblings (index patients) who presented with oculocutaneous albinism at birth and a mild bleeding phenotype during childhood and adolescence. PROCEDURE: Genetic analysis was conducted by panel-based next-generation sequencing (NGS) and Sanger sequencing...
December 4, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27914507/psychiatric-psychological-injury-and-law-introduction
#2
EDITORIAL
Gerald Young
This special issue on psychiatric/psychological injury and law covers major developments in the field, and illustrates the complexities for mental health professionals in dealing with psychiatric/psychological injuries in court. The articles vary in the range of topics covered, and include ones on posttraumatic stress disorder, other trauma reactions, dissociation, disability, pain, and traumatic brain injury, in particular but also new areas, such as the effects of early penile injury. Work in the area of psychiatric/psychological injury and law needs to be scientifically-informed, comprehensive, and impartial, and the series of articles to follow will help workers in the area meet this standard...
November 2016: International Journal of Law and Psychiatry
https://www.readbyqxmd.com/read/27913838/isolated-transverse-process-fractures-insignificant-injury-or-marker-of-complex-injury-pattern
#3
G Lombardo, P Petrone, K Prabhakaran, C P Marini
INTRODUCTION: This study investigates the incidence of isolated transverse process fractures (ITPFx) amongst vertebral fractures in trauma patients, and specific-associated injury patterns present in patients with ITPFx. MATERIALS AND METHODS: A retrospective, 4-year review of our Level 1 Trauma Center registry was performed. Patients with blunt spinal column fractures were identified. Data collected included patient demographics, Injury Severity Score (ISS), type of imaging obtained, and concomitant injuries, including rib and pelvic fractures, liver, spleen, and kidney injury (SOI)...
December 2, 2016: European Journal of Trauma and Emergency Surgery: Official Publication of the European Trauma Society
https://www.readbyqxmd.com/read/27913446/use-of-bioresorbable-implants-for-orbital-fracture-reconstruction
#4
Stephanie M Young, Gangadhara Sundar, Thiam-Chye Lim, Stephanie S Lang, George Thomas, Shantha Amrith
PURPOSE: Bioresorbable implants offer several advantages over permanent implants and serve as a useful alternative in the reconstruction of orbital fractures. Our aim of the study was to evaluate the clinical effectiveness and safety of various bioresorbable implants in the repair of orbital fractures. METHODS: A retrospective review of all patients who had undergone orbital fracture repair with bioresorbable implants in a single tertiary trauma centre from January 2005 to December 2014 was performed...
December 2, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27911229/c-2-arteriovenous-fistula-presenting-as-a-pathologic-hangman-s-fracture-case-report
#5
Rajeev D Sen, Carolina Gesteira Benjamin, Howard A Riina, Donato Pacione
The authors report on an 81-year-old woman with a pathologic hangman's fracture secondary to a complex arteriovenous fistula (AVF). The patient presented with severe, unremitting neck pain and was found to have fractures bilaterally through the pars interarticularis of C-2 with significant anterior subluxation of C-2 over C-3 along with widening of the left transverse foramen. Due to an abnormally appearing left vertebral artery (VA) on CT angiography, the patient underwent conventional angiography, which revealed a complex AVF stemming from the left VA at the level of C-2 with dilated posterior cervical veins and a large venous varix...
December 2, 2016: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/27909067/concept-and-evaluation-of-the-german-war-surgery-course-einsatzchirurgie-kurs-der-bundeswehr
#6
David A Back, K Waldmann, T Hauer, N Huschitt, M W Bowyer, U Wesemann, A Lieber, C Willy
INTRODUCTION: Military surgeons must be prepared to care for severe and complex life-threatening injuries rarely seen in the civilian setting. Typical civilian training and practice do not provide adequate exposure to the broad set of surgical skills required. The German Bundeswehr Medical Service has developed and refined the War Surgery Course (WSC) to meet this training gap. This article describes the recent experience with this readiness curriculum. METHODS: Run annually since 1998, WSC consists nowadays of 5 days with 20 theoretical modules...
December 1, 2016: Journal of the Royal Army Medical Corps
https://www.readbyqxmd.com/read/27903481/hybrid-repair-of-complex-left-subclavian-artery-injury-with-partial-transection-and-complete-thrombosis-in-an-unstable-patient-following-blunt-trauma
#7
Ilitch Diaz-Gutierrez, Muhammad A Rana, Barkat Ali, John M Marek, Mark Langsfeld
Blunt subclavian artery injuries are rare and are associated with high morbidity and mortality. Several case reports have suggested that endovascular repair is safe with short operative times and minimal blood loss. We report a case of a 20-year-old male patient involved in a high speed motor vehicle collision that resulted in partial transection of left subclavian artery with complete luminal thrombosis. Patient also had a left main-stem bronchus avulsion along with major intra-abdominal injuries and multiple spine and long bone fractures...
November 26, 2016: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/27902175/spontaneous-and-bilateral-avascular-necrosis-of-the-navicula-m%C3%A3-ller-weiss-disease
#8
Erdem Aktaş, Tacettin Ayanoğlu, Yasin Hatipoğlu, Ulunay Kanatlı
Although, trauma, foot deformity (pesplanovalgus), systemic diseases such as diabetes mellitus and lupus, drugs (steroids, antineoplastic) and excessive alcohol consumption have all been accused in the etiology of avascular necrosis of the tarsal bones, spontaneous avascular necrosis of the navicular bone, especially in adults, is a rare entity. In this article, we report a 50-year-old female patient with bilateral, spontaneous avascular necrosis of the navicular bone and related severe talonavicular arthrosis...
December 2016: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/27900312/posterior-tibial-tendon-displacement-behind-the-tibia-and-its-interposition-in-an-irreducible-isolated-ankle-dislocation-a-case-report-and-literature-review
#9
Alessandro Ortolani, Roberto Bevoni, Alessandro Russo, Maurilio Marcacci, Mauro Girolami
Isolated posteromedial ankle dislocation is a rare condition thanks to the highly congruent anatomical configuration of the ankle mortise, in which the medial and lateral malleoli greatly reduce the rotational movement of the talus, and the strength of the ligaments higher than the malleoli affords protection against fractures. However, other factors, like medial malleolus hypoplasia, laxity of the ligaments, peroneal muscle weakness and previous ankle sprains, could predispose to pure dislocation. In the absence of such factors, only a complex high-energy trauma, with a rotational component, can lead to this event...
July 2016: Joints
https://www.readbyqxmd.com/read/27898626/dental-trauma-in-a-pediatric-emergency-department-referral-center
#10
Emily Hall, Patricia Hickey, Thuy Nguyen-Tran, Jeff Louie
OBJECTIVE: The purpose of this study was to describe dental and associated oral injuries in a pediatric population that presents to an emergency department. METHODS: We performed a retrospective study and identified children from January 2007 to September 2011. Charts were reviewed for any subject, age from newborn to younger than 19 years, based on International Classification of Diseases, Ninth Revision codes for any dental or oral injury. Data abstraction included demographics, time of day of presentation, location and identification of tooth (s) injured, management, and disposition...
December 2016: Pediatric Emergency Care
https://www.readbyqxmd.com/read/27894372/affective-lability-mediates-the-association-between-childhood-trauma-and-suicide-attempts-mixed-episodes-and-co-morbid-anxiety-disorders-in-bipolar-disorders
#11
M Aas, C Henry, F Bellivier, M Lajnef, S Gard, J-P Kahn, T V Lagerberg, S R Aminoff, T Bjella, M Leboyer, O A Andreassen, I Melle, B Etain
BACKGROUND: Many studies have shown associations between a history of childhood trauma and more severe or complex clinical features of bipolar disorders (BD), including suicide attempts and earlier illness onset. However, the psychopathological mechanisms underlying these associations are still unknown. Here, we investigated whether affective lability mediates the relationship between childhood trauma and the severe clinical features of BD. METHOD: A total of 342 participants with BD were recruited from France and Norway...
November 29, 2016: Psychological Medicine
https://www.readbyqxmd.com/read/27893241/ill-or-injured-shifting-the-emphasis-to-trauma-in-mental-health-diagnosis-and-treatment
#12
Matthew S Costanzo
TOPIC: This contribution examines the disparity that exists between research that identifies the prevalence of trauma among mental health service users and the low frequency of adequately diagnosing and treating trauma in practice. For this author, the important question to pose is "Could behavioral health services be persistently erring in both diagnoses and treatment approaches to adequately assist and support service users?" PURPOSE: The author proposes an alternative service model which is aligned with the prevalence of complex trauma...
December 2016: Psychiatric Rehabilitation Journal
https://www.readbyqxmd.com/read/27891285/complex-perineal-trauma-with-anorectal-avulsion
#13
Adelina Maria Cruceru, Ionut Negoi, Sorin Paun, Sorin Hostiuc, Ruxandra Irina Negoi, Mircea Beuran
Introduction. The objective of this case report is to illustrate a severe perineal impalement injury, associated with anorectal avulsion and hemorrhagic shock. Results. A 32-year-old male patient was referred to our hospital for an impalement perineal trauma, associated with complex pelvic fracture and massive perineal soft tissue destruction and anorectal avulsion. On arrival, the systolic blood pressure was 85 mm Hg and the hemoglobin was 7.1 g/dL. The patient was transported to the operating room, and perineal lavage, hemostasis, and repacking were performed...
2016: Case Reports in Surgery
https://www.readbyqxmd.com/read/27891152/venipuncture-induced-complex-regional-pain-syndrome-presenting-as-inflammatory-arthritis
#14
Punit Pruthi, Pramod Arora, Manoj Mittal, Anugrah Nair, Waqia Sultana
Venipuncture is one of the most commonly done medical procedures. We report a unique case of a 23-year-old young male who presented with features suggestive of inflammatory arthritis. The symptoms, which initially started on the right side, also involved the other side after a few weeks. Although the patient's symptoms and signs were simulating inflammatory arthritis, he had atypical features like poor response to anti-inflammatory medicines and normal laboratory parameters. His musculoskeletal ultrasonography was also not suggestive of arthritis...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27890246/treatment-of-dynamic-scapholunate-instability-dissociation-contribution-of-arthroscopy
#15
C Mathoulin
Scapholunate (SL) ligament injuries generally result from trauma to an extended, supinated wrist, leading to chronic instability that progresses toward osteoarthritis. They can occur together with distal radius fracture. These injuries can be difficult to diagnose, especially early on. Treating chronic SL ligament injuries before the onset of osteoarthritis is still a challenge for surgeons. Until recently, the recommended treatments consisted of open SL ligament reconstruction or repair procedures that reduce pain and improve pinch strength but also lead to wrist stiffness...
December 2016: Hand Surgery and Rehabilitation
https://www.readbyqxmd.com/read/27889894/glucocorticoid-induced-leucine-zipper-in-central-nervous-system-health-and-disease
#16
REVIEW
Mythily Srinivasan, Debomoy K Lahiri
The central nervous system (CNS) is a large network of intercommunicating cells that function to maintain tissue health and homeostasis. Considerable evidence suggests that glucocorticoids exert both neuroprotective and neurodegenerative effects on the CNS. Glucocorticoids act by binding two related receptors in the cytoplasm, the mineralocorticoid receptor (MR) and the glucocorticoid receptor (GR). The glucocorticoid receptor complex mediates cellular responses by transactivating target genes and by protein: protein interactions...
November 26, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27888550/mesenchymal-stem-stromal-cells-biology-and-preclinical-evidence-for-therapeutic-potential-for-organ-dysfunction-following-trauma-or-sepsis
#17
Michael A Matthay, Shibani Pati, Jae-Woo Lee
Several experimental studies have provided evidence that bone-marrow derived mesenchymal stem (stromal) cells (MSC) may be effective in treating critically ill surgical patients who develop traumatic brain injury, acute renal failure, or the acute respiratory distress syndrome. There is also preclinical evidence that MSC may be effective in treating sepsis-induced organ failure, including evidence that MSC have anti-microbial properties. This review considers preclinical studies with direct relevance to organ failure following trauma, sepsis or major infections that apply to critically ill patients...
November 26, 2016: Stem Cells
https://www.readbyqxmd.com/read/27886879/thoracolumbar-trauma-classification
#18
REVIEW
Gregory D Schroeder, James S Harrop, Alexander R Vaccaro
Useful thoracolumbar injury classifications allow for meaningful and concise communication between surgeons, trainees, and researchers. Although many have been proposed, none have been able to obtain universal acceptance. Historically, classifications focused only on the osseous injuries; more recent classifications focused on the injury morphology and other critical determinants of treatment, including the posterior ligamentous complex integrity and the patient's neurologic status. This review details the important historic classifications and reviews more contemporary thoracolumbar injury classifications, such as the Thoracolumbar Injury Classification System and the AOSpine Thoracolumbar Injury Classification System...
January 2017: Neurosurgery Clinics of North America
https://www.readbyqxmd.com/read/27885975/hearing-benefit-and-rated-satisfaction-in-children-with-unilateral-conductive-hearing-loss-using-a-transcutaneous-magnetic-coupled-bone-conduction-hearing-aid
#19
Melissa J Polonenko, Lora Carinci, Karen A Gordon, Blake C Papsin, Sharon L Cushing
BACKGROUND: Bilateral hearing is important for learning, development, and function in complex everyday environments. Children with conductive and mixed hearing loss (HL) have been treated for years with percutaneous coupling through an abutment, which achieves powerful output, but the implant site is susceptible to skin reactions and trauma. To overcome these complications, transcutaneous magnetic coupling systems were recently introduced. PURPOSE: The purpose of the study was to evaluate whether the new transcutaneous magnetic coupling is an effective coupling paradigm for bone-conduction hearing aids (BCHAs)...
November 2016: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/27878907/from-childhood-trauma-to-self-harm-an-investigation-of-theoretical-pathways-among-female-prisoners
#20
Ruth Howard, Thanos Karatzias, Kevin Power, Adam Mahoney
BACKGROUND: Despite empirical evidence suggesting complex associations between childhood trauma and self-harm, there is a dearth of research investigating this association in the female prison population. The current study explored pathways to self-harm following childhood trauma, by investigating the mediating roles of Post-traumatic Stress Disorder (PTSD) symptoms, emotion regulation and dissociation, in this relationship, within a sample of 89 female prisoners. METHODS: Cross-sectional, interview-format, questionnaire study within a female prison population...
November 22, 2016: Clinical Psychology & Psychotherapy
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