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https://www.readbyqxmd.com/read/28100251/consensus-guideline-for-the-diagnosis-and-treatment-of-aromatic-l-amino-acid-decarboxylase-aadc-deficiency
#1
REVIEW
Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F Hoffmann, Birgit Assmann, Nenad Blau, Angeles Garcia-Cazorla, Rafael Artuch, Roser Pons, Toni S Pearson, Vincenco Leuzzi, Mario Mastrangelo, Phillip L Pearl, Wang Tso Lee, Manju A Kurian, Simon Heales, Lisa Flint, Marcel Verbeek, Michèl Willemsen, Thomas Opladen
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms.In this consensus guideline, representatives of the International Working Group on Neurotransmitter Related Disorders (iNTD) and patient representatives evaluated all available evidence for diagnosis and treatment of AADCD and made recommendations using SIGN and GRADE methodology...
January 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28054710/atypical-surface-ecg-complicating-the-diagnosis-of-bundle-branch-reentry-tachycardia
#2
Christopher Reithmann, Bernhard Herkommer, Thomas Remp, Michael Fiek
BACKGROUND: Typical left bundle branch block (LBBB) during ventricular tachycardia (VT) is a diagnostic criterion of bundle branch reentry tachycardia (BBRT) with activation of the right bundle in the anterograde direction. METHODS AND RESULTS: 11 patients (7 male, 60 ± 12 years) with non-ischemic cardiomyopathy (left ventricular ejection fraction 37 ± 16 %) presenting with BBRT were successfully treated by ablation of the right bundle. Among them, 5 patients had atypical surface ECGs differing from a typical left bundle branch block during the VT...
January 5, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/27989734/systemic-application-of-aav-vectors-targeting-gfap-expressing-astrocytes-in-z-q175-ki-huntington-s-disease-mice
#3
Tatyana Vagner, Anton Dvorzhak, Anna Maria Wójtowicz, Christoph Harms, Rosemarie Grantyn
Huntington's disease (HD) affects both neurons and astrocytes. To target the latter and to ensure brain-wide transgene expression, adeno-associated viral (AAV) vectors can be administered intravenously, as AAV vectors cross the blood-brain barrier (BBB) and enable preferential transduction of astrocytes due to their close association with blood vessels. However, there is a possibility that the subclass of GFAP-expressing astrocytes performs a distinct role in HD and reacts differently to therapeutic measures than the rest of the astrocytes...
October 27, 2016: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/27939326/quantitative-demonstration-of-the-efficacy-of-night-time-apomorphine-infusion-to-treat-nocturnal-hypokinesia-in-parkinson-s-disease-using-wearable-sensors
#4
Roongroj Bhidayasiri, Jirada Sringean, Chanawat Anan, Kamolwan Boonpang, Chusak Thanawattano, K Ray Chaudhuri
BACKGROUND: Nocturnal hypokinesia/akinesia is one of the common night-time symptoms in patients with Parkinson's disease (PD), negatively affecting quality of life of patients and caregivers. The recognition of this problem and treatment options are limited in clinical practice. OBJECTIVES: To evaluate the efficacy of nocturnal apomorphine infusion, using a wearable sensor, in patients who are already on daytime continuous subcutaneous apomorphine infusion and still suffer from nocturnal hypokinesia...
December 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27927700/cardiac-%C3%AE-v%C3%AE-3-integrin-expression-following-acute-myocardial-infarction-in-humans
#5
William S A Jenkins, Alex T Vesey, Colin Stirrat, Martin Connell, Christophe Lucatelli, Anoushka Neale, Catriona Moles, Anna Vickers, Alison Fletcher, Tania Pawade, Ian Wilson, James H F Rudd, Edwin J R van Beek, Saeed Mirsadraee, Marc R Dweck, David E Newby
OBJECTIVE: Maladaptive repair contributes towards the development of heart failure following myocardial infarction (MI). The αvβ3 integrin receptor is a key mediator and determinant of cardiac repair. We aimed to establish whether αvβ3 integrin expression determines myocardial recovery following MI. METHODS: (18)F-Fluciclatide (a novel αvβ3-selective radiotracer) positron emission tomography (PET) and CT imaging and gadolinium-enhanced MRI (CMR) were performed in 21 patients 2 weeks after ST-segment elevation MI (anterior, n=16; lateral, n=4; inferior, n=1)...
December 7, 2016: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/27863368/clinical-and-echocardiographic-course-in-tako-tsubo-cardiomyopathy-long-term-follow-up-from-a-multicenter-study
#6
Javier Matabuena Gomez-Limon, Sebastian Isaza Arana, Juan Robledo-Carmona, Edgar Alania Torres, Javier Torres Llergo, Juan Ignacio Valle-Racero, Francisco Lopez Pardo, Angel Martinez-Martinez, Manuel Jimenez-Navarro, Jose Angel Urbano-Moral
OBJECTIVES: To jointly describe clinical characteristics, ECG and echocardiographic findings, and adverse cardiovascular events in patients with tako-tsubo cardiomyopathy (TC) in the long-term. METHODS: Longitudinal multicenter study including retrospective analysis of clinical and ECG data, and follow-up evaluation with clinical interview, electrocardiogram and echocardiogram. RESULTS: Data from 66 cases of TC were available for analysis of clinical and adverse cardiovascular events, and 56 of them completed the follow-up visit including electrocardiogram and echocardiogram...
February 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27825581/usefulness-of-combined-functional-assessment-by-cardiac-magnetic-resonance-and-tissue-characterization-versus-task-force-criteria-for-diagnosis-of-arrhythmogenic-right-ventricular-cardiomyopathy
#7
Giovanni Donato Aquaro, Andrea Barison, Giancarlo Todiere, Chrysanthos Grigoratos, Lamia Ait Ali, Gianluca Di Bella, Michele Emdin, Pierluigi Festa
Current task force criteria (TFC) of cardiac magnetic resonance (CMR) for the diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC/D) were generated by comparing probands (mean age of 44 years) to healthy participants of the multi-ethnic study of atherosclerosis (mean age of 60 years). These age differences may be a selection bias because right ventricular end-diastolic volume index decreases 4.6% per decade. Moreover, fat infiltration and late gadolinium enhancement were not included. We evaluated the diagnostic accuracy of TFC using the same methodology used by the task force but comparing probands and age- and gender-matched healthy controls and considering also other morphofunctional and tissue abnormalities detected by CMR...
December 1, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/27770122/discrepancy-in-blood-pressure-between-the-left-and-right-arms-importance-of-clinical-diagnosis-and-role-of-radiological-imaging
#8
P X Kuan, P W Tan, A T Jobli, A R Norsila
INTRODUCTION: Differences in systolic blood pressure reading between arms are common but could signal trouble if the discrepancy is significant. Early detection of aortic dissection could invariably determine patient's survivability. Hence, a high index of suspicion with prompt diagnostic imaging is vital for accurate diagnosis. CASE PRESENTATION: A previously healthy 35-year-old lady was referred from district hospital for hypertensive cardiomyopathy complicated by acute pulmonary oedema...
August 2016: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/27765061/cardiovascular-magnetic-resonance-patterns-of-biopsy-proven-cardiac-involvement-in-systemic-sclerosis
#9
Patrick Krumm, Karin A L Mueller, Karin Klingel, Ulrich Kramer, Marius S Horger, Tanja Zitzelsberger, Reinhard Kandolf, Meinrad Gawaz, Konstantin Nikolaou, Bernhard D Klumpp, Joerg C Henes
BACKGROUND: To determine morphological and functional cardiovascular magnetic resonance (CMR) patterns in histopathologically confirmed myocardial involvement in patients with systemic sclerosis (SSc). METHODS: Twenty patients (6 females; mean age 41 ± 11 years) with histopathologically proven cardiac involvement in SSc in the years 2008-2016 were retrospectively evaluated. Morphological, functional and late gadolinium enhancement (LGE) images were acquired in standard angulations at 1...
October 21, 2016: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/27762513/etiology-and-left-ventricular-functions-in-left-bundle-branch-block-a-prospective-observational-study
#10
Rajeev Bhardwaj
PURPOSE OF STUDY: Left bundle branch (LBBB) is common ECG finding. Common causes of LBBB are coronary artery disease (CAD), hypertension and dilated cardiomyopathy (DCM). Purpose of the study was to find out the etiology and left ventricular function in patients coming to a territory care hospital. MATERIAL AND METHODS: All consecutive patients coming to our hospital as indoor or outdoor patients with ECG suggestive of LBBB were studied. The detail history and examination was done...
September 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27746414/hematological-and-pathological-features-of-massive-hepatic-necrosis-in-two-radiated-tortoises-astrochelys-radiata
#11
Nobuhide Kido, Iori Itagaki, Daisuke Kiryu, Tomoko Omiya, Kaori Ono
Two radiated tortoises (Astrochelys radiata) exhibited anorexia and hypokinesia. In both cases, hematological and serum biochemical examinations revealed high alkaline phosphatase levels, moderately high aspartate aminotransferase levels and white blood cell counts approximately within the normal range. Despite being treated, the tortoises died 9 and 43 days after the first clinical examination. Gross pathological examinations revealed that the livers of both animals were extremely swollen and contained pale yellow necrotic tissue...
October 16, 2016: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/27739274/hypocalcemic-cardiomyopathy-and-pseudohypoparathyroidism-due-to-severe-vitamin-d-deficiency
#12
C M Batra, Rajiv Agarwal
Hypocalcemic cardiomyopathy is a rare entity. We describe a patient with severe heart failure, decreased ejection fraction and global hypokinesia documented on echocardiogram, associated with severe hypocalcemia, very low vitamin D status, increased QT intervals, increased BNP (serum brain natriuretic peptide) levels and CPK (creatine phosphokinase) levels. All these defects reversed on treatment with vitamin D and calcium within a few days without any specific cardiac intervention.
June 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27710875/biventricular-transient-systolic-dysfunction-after-mitral-valve-replacement-pericardial-decompression-syndrome
#13
Sebnem Albeyoglu, Mustafa Aldag, Ufuk Ciloglu, Hakan Kutlu, Sabri Dagsali
BACKGROUND: Pericardial decompression syndrome is defined as paradoxical hemodynamic instability, left ventricular or bi ventricular systolic dysfunction and pulmonary edema after pericardial fluid drainage. Pericardial Decompression Syndrome is an unexpected clinical scenario with an incidence less than 5% in all surgically or percutaneously managed pericardial tamponade patients. The aim of this manuscript was to describe a case with cardiac tamponade in whom acute biventricular heart failure and pulmonary edema developed after surgical creation of a pericardial window, and to discuss this case in light of the literature...
September 30, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27664232/effectiveness-of-cardiogoniometry-compared-with-exercise-ecg-test-in-diagnosing-stable-coronary-artery-disease-in-women
#14
Ivan Zeljković, Hrvoje Pintarić, Mislav Vrsalović, Ivan Kruljac
AIMS: To investigate the effectiveness of cardiogoniometry, a novel, non-invasive method, in diagnosing coronary artery disease (CAD) in women and compare it with exercise-ECG test, by using coronary angiography as a reference method. METHODS: It was a single-centre, case-series study including consecutive female patients with stable angina pectoris undergoing coronary angiography. Exercise-ECG test, done according to the Bruce protocol, and cardiogoniometry were obtained prior to coronary angiography...
September 23, 2016: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/27662329/evaluating-the-efficacy-of-nocturnal-continuous-subcutaneous-apomorphine-infusion-in-sleep-disorders-in-advanced-parkinson-s-disease-the-apo-night-study
#15
Gustavo Fernández-Pajarín, Ángel Sesar, Begoña Ares, Alfonso Castro
BACKGROUND: There are not many data about the beneficial effect of nocturnal continuous subcutaneous apomorphine infusion (NCSAI) over sleep disturbances in advanced Parkinson's disease (PD). OBJECTIVE: Evaluate the effect of the NCSAI in sleeping problems and insomnia due to nocturnal hypokinesia inadvanced PD. METHODS: We assessed 17 advanced PD patients with several sleep disturbances measured by SCOPA-SLEEP and PDSS scales. All the patients were on apomorphine infusion during daytime...
October 19, 2016: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/27662325/articulation-features-of-parkinson-s-disease-patients-with-subthalamic-nucleus-deep-brain-stimulation
#16
Yasuhiro Tanaka, Takashi Tsuboi, Hirohisa Watanabe, Yasukazu Kajita, Daisuke Nakatsubo, Yasushi Fujimoto, Reiko Ohdake, Mizuki Ito, Naoki Atsuta, Masahiko Yamamoto, Toshihiko Wakabayashi, Masahisa Katsuno, Gen Sobue
BACKGROUND: Voice and speech disorders are one of the most important issues after subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson's disease (PD) patients. However, articulation features in this patient population remain unclear. OBJECTIVE: We studied the articulation features of PD patients with STN-DBS. METHODS: Participants were 56 PD patients treated with STN-DBS (STN-DBS group) and 41 patients treated only with medical therapy (medical-therapy-alone group)...
October 19, 2016: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/27601074/troponin-i-and-echocardiography-in-patients-with-systemic-sclerosis-and-matched-population-controls
#17
A Nordin, E Svenungsson, L Björnådal, K Elvin, A Larsson, K Jensen-Urstad
OBJECTIVES: Cardiac manifestations in systemic sclerosis (SSc) are associated with poor prognosis. Few studies have investigated cardiac troponins in SSc. We studied the relationships between echocardiographic abnormalities, cardiac biomarkers, and disease manifestations in a population-based cohort of patients with SSc and controls. METHOD: The study comprised 110 patients with SSc and 105 age- and sex-matched population-based controls. We examined ventricular function, heart valves, and estimated pulmonary arterial pressure (ePAP) by echocardiography in all participants...
September 7, 2016: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/27533042/capturing-nighttime-symptoms-in-parkinson-disease-technical-development-and-experimental-verification-of-inertial-sensors-for-nocturnal-hypokinesia
#18
Roongroj Bhidayasiri, Jirada Sringean, Poonpak Taechalertpaisarn, Chusak Thanawattano
Although nocturnal hypokinesia represents one of the most common nocturnal disabilities in Parkinson disease (PD), it is often a neglected problem in daily clinical practice. We have developed a portable ambulatory motion recorder (the NIGHT-Recorder), which consists of 16-bit triaxial integrated microelectromechanical system inertial sensors that are specifically designed to measure movements, register the position of the body with respect to gravity, and provide information on rotations on the longitudinal axis while lying in bed...
2016: Journal of Rehabilitation Research and Development
https://www.readbyqxmd.com/read/27522731/-development-risk-factors-of-early-metabolic-and-vascular-disorders-in-young-subjects
#19
E M Vasil'eva, A V Nikitin, A A Bulat, S V Zhemnchuzhnikov
Deterioration of health characteristics and ever increasing diabetes and cardiovascular morbidity among young subjects imply the necessity of identification ofpossible risk factors of these conditions. We evaluated the prevalence of hyperlipoproteinemia and adipose tissue activity based on the results of screening for resistin level, aggravated heredity, disordered hydrocarbon metabolism, overweight, arterial hypertension, behaviour (physical overstrain, hypokinesia, smoking, inadequate dietary regime). The risk of developing type 2 diabetes mellitus and overall risk of cardiovascular disorders were calculated...
2016: Klinicheskaia Meditsina
https://www.readbyqxmd.com/read/27522717/-obesity-current-global-and-russian-trends
#20
REVIEW
A O Razina, S D Runenko, E E Achkasov
The review of literature presents the results of recent epidemiological studies in obese people in Russia and abroad taking into account gender, age, ethnic, social, and geographicalfactors. The increase of obesity prevalence among different population groups including children and adolescents was registered. The risks of health problems associated with overweight and obesity probably leading to disability and mortality were analyzed. It was shown that the energy imbalance played a key role in the etiopathogenesis of obesity among many other factors...
2016: Vestnik Rossiĭskoĭ Akademii Meditsinskikh Nauk
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