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https://www.readbyqxmd.com/read/28742744/one-pa-s-experiences-in-the-netherlands-south-africa-and-australia
#1
Ando Kerlen, Ruth Ballweg
As the PA profession develops internationally, few mechanisms let PAs move from country to country for clinical practice opportunities. The first author of this paper has worked in the civilian health sectors in two countries, the Netherlands and South Africa, and taught PA students in South Africa and Australia. He reports on PA development in each country and reflects on and compares his professional and clinical experiences.
August 2017: JAAPA: Official Journal of the American Academy of Physician Assistants
https://www.readbyqxmd.com/read/28742625/online-sales-of-unscheduled-pharmaceutical-agents-a-case-report-of-tianeptine-use-in-the-united-states
#2
Swapnil Gupta, Ryan Wallace, Jordan Sloshower
: Tianeptine is a tricyclic antidepressant that stimulates mu-opioid receptors at high doses. It is marketed and used across Europe and Latin America as an antidepressant, but is not approved by the Food and Drug Administration for use in the United States. In the United States, tianeptine is sold through online health stores as a cognition enhancer, dietary supplement, or as research chemical. We report the case of a 36-year-old man with a history of major depressive disorder, responsive to sertraline, who turned to the unmonitored use of tianeptine purchased online to treat residual feelings of apathy and boredom...
July 24, 2017: Journal of Addiction Medicine
https://www.readbyqxmd.com/read/28742517/type-1-rhizomelic-chondrodysplasia-punctata-with-a-homozygous-pex7-mutation
#3
Nursel Muratoğlu Şahin, Meliha Esra Bilici, Erdal Kurnaz, Melek Pala Akdoğan, Serdar Ceylaner, Zehra Aycan
INTRODUCTION: Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres. The main biochemical marker of all RCDP types is a decrease in the levels of plasmalogens. Additionally, the accumulation of phytanic acid can be used as a differential marker between types of RDCP. Due to the biochemical overlap between types 1 and 5 RCDP, a genetic analysis of these genes should be performed in patients to identify the type...
July 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28742509/persistent-m%C3%A3-llerian-duct-syndrome-a-novel-mutation-in-the-%C3%AE-nti-m%C3%A3-llerian-%C3%AE-ormone-gene
#4
Ayça Altincik, Fahri Karaca, Hüseyin Onay
BACKGROUND AND OBJECTIVE: Persistent Müllerian duct syndrome (PMDS) is a relatively rare form of 46,XY disorder of sex development caused by the failure of formation, release or action of anti-Müllerian hormone (AMH) in intrauterine life. In this report we describe a case diagnosed with PMDS with a novel homozygous mutation in the AMH gene. CASE REPORT: A 4-month-old male presented with bilateral cryptorchidism and normal external genitalia. The laboratory examination revealed normal gonadotropin levels for his age (FSH: 0...
April 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28742507/severe-neurological-abnormalities-in-a-young-boy-with-impaired-thyroid-hormone-sensitivity-due-to-a-novel-mutation-in-the-mct8-gene
#5
Teresa Rego, Carmen Gomez Lado, Paloma Cabanas Rodríguez, Francisco Sousa Santos, Francisco Barros Angueira, Lidia Castro-Feijóo, Jesús Barreiro Conde, Manuel Castro-Gago
Monocarboxylate transporter 8 (MCT8) is an active and specific thyroid hormone transporter into neurons. MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and typical abnormal thyroid function. We describe a 10-year-old boy with severe cognitive disability, axial hypotonia, spastic quadriplegia and sporadic dyskinetic episodes. He initially presented with thyroid dysfunction (high FT3, low rT3, low FT4 and normal TSH) and generalized retardation of the cerebral and cerebellar myelination in brain magnetic resonance imaging...
April 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28742315/w%C3%A5-adys%C3%A5-aw-biega%C3%A5-ski-md-1857-1917
#6
Hanna Stypułkowska-Misiurewicz
Dr W. Biegański was an eminent doctor of internal medicine mostly the acute infectious diseases and tuberculosis, he was scientist doing the research on the origin of the diseases and on the medical ethics, but more he was also a social activist taking care on the public health of the society in his time still living under the Russian rule. W. Biegański living on the XIX/XX century in small provincial town, grace to his knowledge, self education and energy created the important scientific center in the municipal small hospital...
2017: Przegla̧d Epidemiologiczny
https://www.readbyqxmd.com/read/28742244/novel-prps1-gain-of-function-mutation-in-a-patient-with-congenital-hyperuricemia-and-facial-anomalies
#7
Joseph Porrmann, Elitza Betcheva-Krajcir, Nataliya Di Donato, Anne-Karin Kahlert, Jens Schallner, Andreas Rump, Evelin Schröck, Doreen Dobritzsch, Jeroen Roelofsen, André B P van Kuilenburg, Andreas Tzschach
Phosphoribosylpyrophosphate synthetase (PRPPS) superactivity (OMIM 300661) is a rare inborn error of purine metabolism that is caused by gain-of-function mutations in the X-chromosomal gene PRPS1 (Xq22.3). Clinical characteristics include congenital hyperuricemia and hyperuricosuria, gouty arthritis, urolithiasis, developmental delay, hypotonia, recurrent infections, short stature, and hearing loss. Only eight families with PRPPS superactivity and PRPS1 gain-of-function mutations have been reported to date...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28742196/sociological-histories-on-epilepsy-as-causes-for-disqualification-stipulated-in-the-japanese-road-traffic-act-of-1960-and-revised-road-traffic-act-of-2001
#8
G Imataka, S Yoshihara
In the wake of successive cases of fatal accidents caused by patients behind the wheel whose driving was likely to be hindered due to paroxysmal diseases, including epilepsy, there has been an outcry from victims demanding stricter criminal penalties against the perpetrators due to negligence. As a result of this action, a revised Road Traffic Act was put into effect in Japan on June 14, 2013. This act established new penal provisions against any person who provides false statements on his/her medical condition(s) when acquiring or renewing a driver's license...
July 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28741928/selection-of-effective-htra3-activators-using-combinatorial-chemistry
#9
Magdalena Wysocka, Kamila Sychowska, Natalia Gruba, Łukasz Winiarski, Marcin Skoreński, Mateusz Psurski, Joanna Makowska, Artur Gieldon, Tomasz Wenta, Mirosław Jarząb, Przemyslaw Glaza, Joanna Zdacewicz, Marcin Sieńczyk, Barbara Lipinska, Adam Lesner
Herein we report selection, synthesis and enzymatic evaluation of a peptidomimetic library able to increase proteolytic activity of HtrA3 (high temperature requirement A) protease. Iterative deconvolution in solution of synthesized modified pentapeptides yielded two potent HtrA3 activators acting in the micromolar range (HCOO-CH2O-C6H4-OCH2-CO-Tyr-Asn-Phe-His-Asn-OH and HCOO-CH2O-C6H4-OCH2-CO-Tyr-Asn-Phe-His-Glu-OH). Both compounds increased proteolysis of an artificial HtrA3 substrate over 40-fold in a selective manner...
July 25, 2017: ACS Combinatorial Science
https://www.readbyqxmd.com/read/28741586/a-new-mutation-in-the-calcium-sensing-receptor-gene-causing-hypocalcaemia-case-report-of-a-father-and-two-sons
#10
M K Schoutteten, B Bravenboer, S Seneca, K Stouffs, B Velkeniers
BACKGROUND: Regulation of calcium is mediated by parathyroid hormone (PTH) and 1.25-dihydroxyvitamine D3. The calcium-sensing receptor (CaSR) regulates PTH release by a negative feedback system. Gain-of-function mutations in the CaSR gene reset the calcium-PTH axis, leading to hypocalcaemia. PATIENTS AND METHODS: We analysed a family with hypocalcaemia. The proband was a 47-year-old man (index, patient I1), who presented with paraesthesias in both limbs. He has two sons (patient II1 a nd I I2)...
July 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/28741428/corrigendum
#11
(no author information available yet)
Frankis J, Goodall L, Clutterbuck D, Abubakari A-R and Flowers P. Regular STI testing amongst men who have sex with men and use social media is suboptimal - a cross-sectional study. International Journal of STD & AIDS 2017; 28: 573-583. DOI: 10.1177/0956462416636780. Razak Abubakari would like to change the presentation of his name in the online version of this article to Abdul-Razak Abubakari.
August 2017: International Journal of STD & AIDS
https://www.readbyqxmd.com/read/28741249/ambroise-par%C3%A3-1510-1590-on-the-diagnosis-and-treatment-of-shoulder-dislocations
#12
REVIEW
Konstantinos Markatos, Marianna Karamanou, Gerasimos Tsourouflis, Georgios Androutsos, Andreas F Mavogenis
AIM OF STUDY: This article aims to summarize the treatment methods for shoulder dislocations supported by Ambroise Paré, and his clinical and academic contribution to this subject. INTRODUCTION: Ambroise Paré (1510-1590) was one of the most prominent surgeons of his time, and one of the most significant innovators of the Renaissance in the fields of military operation, bandages, wound healing, bloodletting, close blood vessels techniques and cesarean section. For many, he is considered "the Father of Modern Surgery"...
July 24, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28740964/isolated-chylous-injury-due-to-blunt-abdominal-trauma-report-of-a-case-and-a-review-of-the-literature
#13
Tunç Eren, Mustafa Demir, Süleyman Orman, Metin Leblebici, İbrahim Ali Özemir, Orhan Alimoğlu
The chyle duct (CD) lies close to the spine behind the right renal vein and vena cava. Forces capable of tearing the CD may also injure other adjacent structures or organs. Cases of isolated chylous injury are rarely reported in the literature. Our aim was to report a case of isolated chylous injury due to blunt abdominal trauma that was successfully treated non-operatively. A 54-year-old man was involved in a deceleration-type traffic accident. His physical examinations, radiologic evaluations, paracentesis, and laboratory findings revealed isolated chylous injury resulting from intra- and retroperitoneal chylous fluid collection...
2017: Turk J Surg
https://www.readbyqxmd.com/read/28740692/durable-complete-response-to-nivolumab-in-a-patient-with-hiv-and-metastatic-non-small-cell-lung-cancer
#14
Brennan McCullar, Taylor Alloway, Michael Martin
Programmed death 1 (PD-1) inhibitors have been shown to increase overall survival in non-small cell lung cancer (NSCLC) patients. HIV patients have increased expression of PD-1 on their T-cell surfaces. We describe a patient with well-controlled HIV and NSCLC who underwent treatment with nivolumab and had a durable complete response (CR) with his viral load remaining undetectable. To date there is only one case report of a cancer patient with melanoma and with HIV treated with a programmed death ligand 1 (PD-L1) inhibitor...
June 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28740689/types-of-biological-variables
#15
EDITORIAL
Shreemathi S Mayya, Ashma D Monteiro, Sachit Ganapathy
Identification and description of variables used in any study is a necessary component in biomedical research. Statistical analyses rely on the type of variables that are involved in the study. In this short article, we introduce the different types of biological variables. A researcher has to be familiar with the type of variable he/she is dealing with in his/her research to decide about appropriate graphs/diagrams, summary measures and statistical analysis.
June 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28740483/a-case-with-spondyloenchondrodysplasia-treated-with-growth-hormone
#16
Takanori Utsumi, Satoshi Okada, Kazushi Izawa, Yoshitaka Honda, Gen Nishimura, Ryuta Nishikomori, Rika Okano, Masao Kobayashi
Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia caused by loss of function mutations in acid phosphatase 5, tartrate resistant (ACP5). Hypomorphic ACP5 mutations impair endochondral bone growth and create an interferon (INF) signature, which lead to distinctive spondylar and metaphyseal dysplasias, and extraskeletal morbidity, such as neurological involvement and immune dysregulation, respectively. We report an affected boy with novel ACP5 mutations, a splice-site mutation (736-2 A>C) and a nonsense mutation (R176X)...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28739564/silent-tracheobronchial-chondritis-in-a-patient-with-a-delayed-diagnosis-of-relapsing-polychondritis
#17
Faraz Afridi, Seema Frosh
Relapsing polychondritis is a very rare autoimmune disease characterised by a relapsing inflammation of hyaline, elastic and fibrous cartilaginous tissues. The incidence is estimated to be between 3.5 and 4.5 per million people per year. Clinical signs and symptoms can be very subtle, and if left undiagnosed for a prolonged period, airway involvement can cause fibrosis of the tracheobronchial wall, leading to a fixed tracheobronchial stenosis. Eventually, this can progress to life-threatening tracheobronchomalacia due to irreversible damage and loss of tissue integrity...
July 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28739563/efficacy-of-new-low-dose-oral-anticoagulants-in-recalcitrant-livedoid-vasculopathy
#18
Fumina Furukawa, Megumi Mizawa, Teruhiko Makino, Tadamichi Shimizu
Livedoid vasculopathy (LV) is a thrombotic skin disease characterised by recurrent painful ulcerations and irreversible scar formation on the lower legs, which is caused by occlusion of the cutaneous microcirculation. Edoxaban is one of new oral anticoagulants. It directly inhibits factor Xa in the coagulation pathway and prevents thrombus formation. A 17-year-old Japanese male presented with a 1-year history of recalcitrant cutaneous ulcers and livedo racemosa on his lower extremities. Initially, the ulcers were treated with antiplatelets therapies; however, he experienced recurrence of ulcerations during summer time...
July 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28739462/suprageniculate-approach-to-release-of-popliteal-entrapment-without-distal-bypass-despite-preoperative-runoff-thrombosis
#19
Aamna M Ali, Christopher R Ramos, Natalia O Glebova
INTRODUCTION: Popliteal artery entrapment syndrome is an uncommon condition in which anatomic or functional popliteal artery compression causes arterial insufficiency. We present a case of popliteal entrapment with runoff thrombosis treated with suprageniculate release of entrapment without distal bypass. CASE PRESENTATION: A 15-year old boy with Klinefelter syndrome presented with right leg claudication severely limiting his activity. He had a palpable femoral pulse, but no palpable popliteal or foot pulses on the right...
July 21, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28739456/acute-type-b-dissection-causing-collapse-of-evar-endograft-and-iliac-limb-occlusion
#20
Nathan K Itoga, Tiffany Wu, Michael D Dake, Ronald L Dalman, Jason T Lee
We describe a rare case of acute type B dissection causing collapse of a previously placed infrarenal stent-graft, resulting in acute limb ischemia due to left iliac limb thrombosis in a 59-year-old male. The patient presented with acute back and abdominal discomfort radiating to his back, bilateral buttock stabbing discomfort, and left> right thigh and calf rest pain. CTA showed a spiral type B dissection with collapse of the proximal portion of the EVAR device and left limb occlusion. Urgent treatment with TEVAR distal to the left subclavian covered the entry tear and redirected the majority of the flow to the true lumen leading to near immediate expansion of the proximal portion of the EVAR device...
July 21, 2017: Annals of Vascular Surgery
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