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https://www.readbyqxmd.com/read/28435766/a-heart-too-stiff-to-beat-a-case-of-familial-transthyretin-amyloidosis-cardiomyopathy
#1
Yan Zhou, Sameen Khalid, Aamer Abbass, Laura Hughes, Marcos Hazday
Heart failure is a common clinical syndrome caused by a variety of cardiac diseases. We report a rare case of familial transthyretin amyloidosis cardiomyopathy to heighten the awareness of this rare but lethal cause of heart failure, as therapeutic interventions such as liver or heart transplant could be curative in selected patients.
March 20, 2017: Curēus
https://www.readbyqxmd.com/read/28433974/hypoactive-hypoalert-behaviour-and-thalamic-hypometabolism-due-to-intracranial-hypotension
#2
Seamus Kearney, Peter Flynn, Simon Hughes, Wendy Spence, Mark Owen McCarron
A 47-year-old man presented with a 9-year history of a hypoalert hypoactive behaviour syndrome, caused by the deep brain swelling variant of spontaneous intracranial hypotension. Along with apathy with retained cognition, he had stable ataxia, impaired upgaze and episodes of central apnoea. MRI brain showed a sagging brainstem, pointed ventricles and reduced angle between the vein of Galen and the straight sinus, but no meningeal enhancement or subdural collections. A dopamine transporter scan showed preganglionic dopamine receptor deficiency; a fluorodeoxy glucose positron emission tomography scan showed bilateral hypothalamic hypometabolism...
April 22, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28427039/low-dose-growth-hormone-treatment-in-infants-and-toddlers-with-prader-willi-syndrome-is-comparable-to-higher-dosage-regimens
#3
Elly Scheermeyer, Mark Harris, Ian Hughes, Patricia A Crock, Geoffrey Ambler, Charles F Verge, Phil Bergman, George Werther, Maria E Craig, Catherine S Choong, Peter S W Davies
OBJECTIVE: Evaluate benefit and risk of low dose growth hormone treatment (GHT, 4.5mg/m(2)/week) in very young children with Prader-Willi Syndrome (PWS). DESIGN: Prospective longitudinal clinical intervention. METHODS: We evaluated 31 infants (aged 2-12months) and 42 toddlers (13-24months) from the PWS-OZGROW database for height, weight and BMI using the World Health Organization standard deviation scores (SDSWHO) and PWS specific BMI (SDSPWS), bone age, insulin-like growth factor 1 (IGF-I) levels and adverse events over 3years of GHT...
March 24, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/28422753/steroid-metabolome-analysis-reveals-prevalent-glucocorticoid-excess-in-primary-aldosteronism
#4
Wiebke Arlt, Katharina Lang, Alice J Sitch, Anna S Dietz, Yara Rhayem, Irina Bancos, Annette Feuchtinger, Vasileios Chortis, Lorna C Gilligan, Philippe Ludwig, Anna Riester, Evelyn Asbach, Beverly A Hughes, Donna M O'Neil, Martin Bidlingmaier, Jeremy W Tomlinson, Zaki K Hassan-Smith, D Aled Rees, Christian Adolf, Stefanie Hahner, Marcus Quinkler, Tanja Dekkers, Jaap Deinum, Michael Biehl, Brian G Keevil, Cedric H L Shackleton, Jonathan J Deeks, Axel K Walch, Felix Beuschlein, Martin Reincke
BACKGROUND: Adrenal aldosterone excess is the most common cause of secondary hypertension and is associated with increased cardiovascular morbidity. However, adverse metabolic risk in primary aldosteronism extends beyond hypertension, with increased rates of insulin resistance, type 2 diabetes, and osteoporosis, which cannot be easily explained by aldosterone excess. METHODS: We performed mass spectrometry-based analysis of a 24-hour urine steroid metabolome in 174 newly diagnosed patients with primary aldosteronism (103 unilateral adenomas, 71 bilateral adrenal hyperplasias) in comparison to 162 healthy controls, 56 patients with endocrine inactive adrenal adenoma, 104 patients with mild subclinical, and 47 with clinically overt adrenal cortisol excess...
April 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28406555/international-guillain-barr%C3%A3-syndrome-outcome-study-igos-protocol-of-a-prospective-observational-cohort-study-on-clinical-and-biological-predictors-of-disease-course-and-outcome-in-guillain-barr%C3%A3-syndrome
#5
Bart C Jacobs, Bianca van den Berg, Christine Verboon, Govindsinh Chavada, David R Cornblath, Kenneth C Gorson, Thomas Harbo, Hans-Peter Hartung, Richard A C Hughes, Susumu Kusunoki, Pieter A van Doorn, Hugh J Willison
Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy with a highly variable clinical presentation, course, and outcome. The factors that determine the clinical variation of GBS are poorly understood which complicates the care and treatment of individual patients. The protocol of the ongoing International GBS Outcome Study (IGOS), a prospective, observational, multi-centre cohort study that aims to identify the clinical and biological determinants and predictors of disease onset, subtype, course and outcome of GBS is presented here...
April 12, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28400221/validation-of-a-self-monitoring-tool-for-use-in-exercise-therapy
#6
Camilla S Powierza, Michael D Clark, Jaime M Hughes, Kevin A Carneiro, Jason P Mihalik
BACKGROUND: Aerobic exercise at a sub-symptom heart rate has been recommended as therapy for Post-Concussion Syndrome (PCS). Assessing adherence with an accurate heart rate monitoring instrument is difficult limiting the proliferation of large-scale randomized controlled trials. OBJECTIVE: To evaluate the validity of the Fitbit Charge HR against electrocardiogram (EKG) to monitor heart rate during a treadmill-based exercise protocol. DESIGN: A methods comparison study...
April 8, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28388629/a-tubulin-alpha-8-mouse-knockout-model-indicates-a-likely-role-in-spermatogenesis-but-not-in-brain-development
#7
Christine P Diggle, Isabel Martinez-Garay, Zoltan Molnar, Martin H Brinkworth, Ed White, Ewan Fowler, Ruth Hughes, Bruce E Hayward, Ian M Carr, Christopher M Watson, Laura Crinnion, Aruna Asipu, Ben Woodman, P Louise Coletta, Alexander F Markham, T Neil Dear, David T Bonthron, Michelle Peckham, Ewan E Morrison, Eamonn Sheridan
Tubulin alpha 8 (Tuba8) is the most divergent member of the highly conserved alpha tubulin family, and uniquely lacks two key post-translational modification sites. It is abundantly expressed in testis and muscle, with lower levels in the brain. We previously identified homozygous hypomorphic TUBA8 mutations in human subjects with a polymicrogyria (PMG) syndrome, suggesting its involvement in development of the cerebral cortex. We have now generated and characterized a Tuba8 knockout mouse model. Homozygous mice were confirmed to lack Tuba8 protein in the testis, but did not display PMG and appeared to be neurologically normal...
2017: PloS One
https://www.readbyqxmd.com/read/28370959/therapeutic-plasma-exchange-normalizes-insulin-mediated-response-in-a-child-with-type-1-diabetes-and-insulin-autoimmune-syndrome
#8
Erin F Sharwood, Ian P Hughes, Carel J Pretorius, Peter Trnka, Jane Peake, Tony Huynh
BACKGROUND: Insulin autoimmune syndrome (IAS), characterized by glycemic dysregulation and life-threatening hypoglycemia, can occur in patients with type 1 diabetes (T1D). Diagnostic confirmation is complex but important in order to ensure timely initiation of definitive therapy. AIMS: We aimed to quantitate the degree of immunoglobulin-insulin complex (IIC) formation and its effects on glycemic control in a patient with T1D and IAS compared with T1D and non-T1D controls and before and after therapeutic plasma exchange (TPE)...
March 29, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28351649/frequency-of-gonadal-tumours-in-complete-androgen-insensitivity-syndrome-cais-a-retrospective-case-series-analysis
#9
S Chaudhry, R Tadokoro-Cuccaro, S E Hannema, C L Acerini, I A Hughes
BACKGROUND: Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder of sex development (DSD) where affected individuals are phenotypically female, but have an XY karyotype and testes. The risk of gonadal tumour development in CAIS may increase with age; incidence rates have been reported to be 0.8-22% in patients who have retained their gonads into adulthood. Consequently, gonadectomy has been recommended either during childhood or after puberty is complete, although there is no consensus on the optimal timing for this procedure...
March 14, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28345002/cxcl12-promotes-stem-cell-recruitment-and-uterine-repair-after-injury-in-asherman-s-syndrome
#10
Gulcin Sahin Ersoy, Masoumeh Majidi Zolbin, Emine Cosar, Irene Moridi, Ramanaiah Mamillapalli, Hugh S Taylor
Asherman's syndrome is an acquired condition of uterine fibrosis and adhesions in response to injury that adversely affects fertility and pregnancy. We have previously demonstrated that bone marrow-derived mesenchymal stem cells (BMDSCs) contribute to uterine repair after injury and that stem cells supplementation improves fertility. Here, we demonstrate that CXCL12 is the chemokine that mediates stem cell engraftment and functional improvement using a murine model of Asherman's syndrome. After uterine injury, we demonstrate that CXCL12 augmentation increased BMDSC engraftment and that the CXCL12 receptor (CXCR4) antagonist, ADM3100, blocked stem cell recruitment...
March 17, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28284923/vascular-quadrilateral-space-syndrome-in-three-overhead-throwing-athletes-an-underdiagnosed-cause-of-digital-ischemia
#11
Johnathon Rollo, David Rigberg, Hugh Gelabert
Vascular quadrilateral space syndrome (vQSS) is an underdiagnosed cause of extremity ischemia, pain and paresthesia in overhand throwing athletes. The mechanism of vQSS is thought to result from repeated abduction and external rotation of the arm leading to a distraction injury of the posterior circumflex humoral artery (PCHA) as this courses through the quadrilateral space. This trauma may cause dissection and dissecting aneurysm formation. Thrombus from this arterial injury then embolizes down the arm resulting in the symptomatic presentation...
March 8, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28283711/the-role-of-reconstructive-surgery-in-patients-with-end-stage-interstitial-cystitis-bladder-pain-syndrome-is-cystectomy-necessary
#12
Elaine J Redmond, Hugh D Flood
INTRODUCTION: Interstitial cystitis is a debilitating condition that has a profound effect on quality of life. Although many approaches to treatment have been explored, no consistently effective treatment has been identified. Reconstructive surgery is offered to patients with refractory IC/BPS; however, expert opinion is divided as to whether simultaneous cystectomy is necessary to achieve symptomatic cure. The aim of this study was to report our experience in the surgical management of IC/BPS in a university teaching hospital...
March 11, 2017: International Urogynecology Journal
https://www.readbyqxmd.com/read/28274325/consent-for-the-diagnosis-of-preclinical-dementia-states-a-review
#13
REVIEW
Julian C Hughes, Thomas A Ingram, Aron Jarvis, Elise Denton, Zoe Lampshire, Cathy Wernham
It is now possible to detect the pathology of Alzheimer's disease (AD) many years before symptoms and signs otherwise become manifest. Biomarkers of disease include evidence of amyloid and tau in the cerebrospinal fluid and neuroimaging which (for instance) allows amyloid in the brain to be visualized. There is, thus, a preclinical state in which it is possible to identify Alzheimer's pathology long before there is clinical evidence of disease. Much research focuses on this preclinical state because it seems likely that treatments will be more effective before the disease is established...
April 2017: Maturitas
https://www.readbyqxmd.com/read/28253033/lifestyle-advice-and-self-care-integral-to-acupuncture-treatment-for-patients-with-chronic-neck-pain-secondary-analysis-of-outcomes-within-a-randomized-controlled-trial
#14
Hugh MacPherson, Ben Elliot, Ann Hopton, Harriet Lansdown, Stephen Birch, Catherine Hewitt
BACKGROUND: Lifestyle advice is widely considered as an integral component of acupuncture treatment. However, it is unclear whether lifestyle advice and related self-care are important for sustaining benefit over the longer term. In a novel secondary analysis of trial data, this paper explores the nature and impact of acupuncture-related diagnosis, and associated lifestyle advice and self-care, in patients with chronic neck pain. DESIGN: In a three-arm, randomized, controlled multicenter trial with 12 months of follow-up, a total of 517 patients with chronic neck pain were randomized in equal proportions to acupuncture, Alexander technique, or usual care alone...
March 2017: Journal of Alternative and Complementary Medicine: Research on Paradigm, Practice, and Policy
https://www.readbyqxmd.com/read/28247959/therapeutic-plasma-exchange-in-chronic-dysimmune-peripheral-neuropathies-a-10-year-retrospective-study
#15
Philippe Codron, Maud Cousin, Jean-François Subra, Vivien Pautot, Franck Letournel, Christophe Verny, Julien Cassereau
INTRODUCTION: Therapeutic plasma exchange (TPE) can be proposed in the treatment of chronic dysimmune peripheral neuropathies (CDPN). Actual guidelines are however based on few studies, and indications and protocols still remain to be clarified. We conducted a 10-year retrospective study in order to assess the effectiveness and tolerance of TPE in CDPN. METHODS: All patients treated for CDPN with TPE from October 2006 to March 2016 in the university hospital of Angers were included...
March 1, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28242044/wolff-parkinson-white-pattern-and-syndrome-where-do-we-stand-in-2017
#16
EDITORIAL
Hugh Calkins
No abstract text is available yet for this article.
January 25, 2017: Trends in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28241090/plasma-exchange-for-guillain-barr%C3%A3-syndrome
#17
REVIEW
Sylvie Chevret, Richard Ac Hughes, Djillali Annane
BACKGROUND: Guillain-Barré syndrome (GBS) is an acute paralysing disease caused by peripheral nerve inflammation. This is an update of a review first published in 2001 and last updated in 2012. OBJECTIVES: To assess the effects of plasma exchange for treating GBS. SEARCH METHODS: On 18 January 2016 we searched the Cochrane Neuromuscular Specialised Register, CENTRAL, MEDLINE, and Embase. We also searched clinical trials registries. SELECTION CRITERIA: Randomised and quasi-randomised trials of plasma exchange versus sham exchange or supportive treatment, or comparing different regimens or techniques of plasma exchange...
February 27, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28238455/androgen-dependent-mechanisms-of-pro-angiogenic-networks-in-placental-and-tumor-development
#18
Veronika M Metzler, Simone de Brot, Robert S Robinson, Jennie N Jeyapalan, Emad Rakha, Thomas Walton, David S Gardner, Emma F Lund, Jonathan Whitchurch, Daisy Haigh, Jack M Lochray, Brian D Robinson, Cinzia Allegrucci, Rupert G Fray, Jenny L Persson, Niels Ødum, Regina R Miftakhova, Albert A Rizvanov, Ieuan A Hughes, Rieko Tadokoro-Cuccaro, David M Heery, Catrin S Rutland, Nigel P Mongan
The placenta and tumors share important characteristics, including a requirement to establish effective angiogenesis. In the case of the placenta, optimal angiogenesis is required to sustain the blood flow required to maintain a successful pregnancy, whereas in tumors establishing new blood supplies is considered a key step in supporting metastases. Therefore the development of novel angiogenesis inhibitors has been an area of active research in oncology. A subset of the molecular processes regulating angiogenesis are well understood in the context of both early placentation and tumorigenesis...
February 20, 2017: Placenta
https://www.readbyqxmd.com/read/28163843/outcome-of-guillain-barr%C3%A3-syndrome-in-children-a-prospective-cohort-study-in-a-tertiary-hospital-in-upper-egypt
#19
Abdelrahim Abdrabou Sadek, Ashraf Abou-Taleb, Wafaa Ahmed Ali
INTRODUCTION: Guillain-Barré syndrome is the most common cause of acute flaccid paralysis in children, and defined as an acute inflammatory polyneuropathy. The objective of this study was to assess the clinico-laboratory profile, and outcome of Guillain-Barré syndrome in children at Sohag University Hospital. METHODS: This prospective cohort observational study was conducted in 2014-2015. The included children were subjected to through medical history and detailed systemic and neurological examination...
December 2016: Electronic Physician
https://www.readbyqxmd.com/read/28149085/complications-in-mechanically-ventilated-patients-of-guillain-barre-syndrome-and-their-prognostic-value
#20
Archana Becket Netto, Arun B Taly, Girish B Kulkarni, G S Uma Maheshwara Rao, Shivaji Rao
INTRODUCTION: The spectrum of various complications in critically ill Guillain-Barre syndrome (GBS) and its effect on the prognosis is lacking in literature. This study aimed at enumerating the complications in such a cohort and their significance in the prognosis and mortality. MATERIALS AND METHODS: Retrospective case record analysis of all consecutive mechanically ventilated patients of GBS in neurology Intensive Care Unit (ICU) of a tertiary care institute for 10 years was done...
January 2017: Journal of Neurosciences in Rural Practice
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