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https://www.readbyqxmd.com/read/28726805/prepl-deficiency-delineation-of-the-phenotype-and-development-of-a-functional-blood-assay
#1
Luc Régal, Emma Mårtensson, Isabelle Maystadt, Nicol Voermans, Damien Lederer, Alberto Burlina, María Jesús Juan Fita, A Jeannette M Hoogeboom, Mia Olsson Engman, Tess Hollemans, Meyke Schouten, Sandra Meulemans, Tord Jonson, Inge François, David Gil Ortega, Erik-Jan Kamsteeg, John W M Creemers
PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL deficiency, previously described only once, the absence of cystinuria complicates the diagnosis...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28720881/patients-with-orthostatic-intolerance-relationship-to-autonomic-function-tests-results-and-reproducibility-of-symptoms-on-tilt
#2
Hyung Lee, Phillip A Low, Hyun Ah Kim
This study was designed to investigate the frequency and pattern of orthostatic symptoms during head-up tilt (HUT) in patients with orthostatic intolerance during daily life, and to identify the relationship between the orthostatic symptoms during HUT and autonomic parameters. We prospectively collected autonomic data from 464 patients with orthostatic symptoms. Adrenergic and cardiovagal function tests including HUT were performed. Based on HUT results, we divided patients into orthostatic hypotension (OH), postural tachycardia syndrome (POTS), or normal HUT groups...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28710603/the-most-accurate-autonomic-function-test-the-medical-history
#3
EDITORIAL
Janice L Gilden
No abstract text is available yet for this article.
July 14, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28705551/effects-of-progressive-resistance-training-on-cardiovascular-autonomic-regulation-in-patients-with-parkinson-s-disease-a-randomized-controlled-trial
#4
Hélcio Kanegusuku, Carla Silva-Batista, Tiago Peçanha, Alice Nieuwboer, Natan D Silva, Luiz A R Costa, Marco T de Mello, Maria E P Piemonte, Carlos Ugrinowitsch, Cláudia L M Forjaz
OBJECTIVE: To evaluate the effects of a progressive resistance training (RT) on cardiac autonomic modulation and on cardiovascular responses to autonomic stress tests in patients with Parkinson disease (PD). DESIGN: Randomized clinical trial. SETTING: The Brazilian Parkinson Association. PARTICIPANTS: 30 patients with PD (modified Hoehn and Yahr stages 2-3) were randomly divided into 2 groups: a progressive RT group (PDT) and a control group (PDC)...
July 10, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28703868/cardiac-vagal-tone-a-non-invasive-measure-of-parasympathetic-tone-is-a-clinically-relevant-tool-in-type-1-diabetes-mellitus
#5
C Brock, N Jessen, B Brock, P E Jakobsen, T K Hansen, J M Rantanen, S Riahi, Y K Dimitrova, A Dons-Jensen, Q Aziz, A M Drewes, A D Farmer
AIMS: To compare a novel index of parasympathetic tone, cardiac vagal tone, with established autonomic variables and to test the hypotheses that (1) cardiac vagal tone would be associated with established time and frequency domain measures of heart rate and (2) cardiac vagal tone would be lower in people with Type 1 diabetes than in a matched healthy cohort and lower still in people with established neuropathy. METHODS: Cardiac vagal tone is a validated cardiometrically derived index of parasympathetic tone...
July 13, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28697563/autonomic-cardiac-function-in-preclinical-alzheimer-s-disease
#6
Cláudia Y Santos, Jason T Machan, Wen-Chih Wu, Peter J Snyder
To explore early autonomic cardiac changes in pre-clinical Alzheimer's disease (AD), we have evaluated electrocardiologic measures of vagal tone for 63 adults (ages 55-75) at rest, during cognitive testing, and then again at rest. All subjects had multiple risk factors for AD, and all completed amyloid PET scans (18F-Florbetapir) to determine amyloid positivity (Aβ+). No change in electrocardiographic measures were observed for Aβ+ participants under each testing condition, whereas Aβ-subjects showed an expected increase in vagal tone during the cognitive stress condition...
July 4, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28694517/the-lateral-parabrachial-nucleus-but-not-the-thalamus-mediates-thermosensory-pathways-for-behavioural-thermoregulation
#7
Takaki Yahiro, Naoya Kataoka, Yoshiko Nakamura, Kazuhiro Nakamura
Thermoregulatory behaviour, such as migration to a comfortable thermal environment, is a representative innate animal behaviour and facilitates effective autonomic regulation of body temperature with a reduced cost of resources. Here we determine the central thermosensory ascending pathway that transmits information on environmental temperature from cutaneous thermoreceptors to elicit thermoregulatory behaviour. To examine the contribution of the spinothalamocortical pathway, which is known to mediate thermosensory transmission for perception of skin temperature, we lesioned thalamic regions mediating this pathway in rats...
July 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28683089/the-composite-autonomic-symptom-scale-31-is-a-useful-screening-tool-for-patients-with-parkinsonism
#8
Younsoo Kim, Jin Myoung Seok, Jongkyu Park, Kun-Hyun Kim, Ju-Hong Min, Jin Whan Cho, Suyeon Park, Hyun-Jin Kim, Byoung Joon Kim, Jinyoung Youn
Differentiation of multiple system atrophy with predominant parkinsonism (MSA-P) and Parkinson's disease (PD) is important, but an effective tool for differentiation has not been identified. We investigated the efficacy of the composite autonomic symptom scale 31 (COMPASS 31) questionnaire as a tool for evaluating autonomic function in parkinsonism patients. In this study, we enrolled drug-naïve patients with MSA-P and PD, and administered the COMPASS-31 and an objective autonomic dysfunction test (AFT). Demographic and clinical data, including parkinsonism and autonomic dysfunction, were compared between the two groups...
2017: PloS One
https://www.readbyqxmd.com/read/28683071/trajectory-following-and-stabilization-control-of-fully-actuated-auv-using-inverse-kinematics-and-self-tuning-fuzzy-pid
#9
Mohanad M Hammad, Ahmed K Elshenawy, M I El Singaby
In this work a design for self-tuning non-linear Fuzzy Proportional Integral Derivative (FPID) controller is presented to control position and speed of Multiple Input Multiple Output (MIMO) fully-actuated Autonomous Underwater Vehicles (AUV) to follow desired trajectories. Non-linearity that results from the hydrodynamics and the coupled AUV dynamics makes the design of a stable controller a very difficult task. In this study, the control scheme in a simulation environment is validated using dynamic and kinematic equations for the AUV model and hydrodynamic damping equations...
2017: PloS One
https://www.readbyqxmd.com/read/28678348/nacl-and-osmolarity-produce-different-responses-in-organum-vasculosum-of-the-lamina-terminalis-neurons-sympathetic-nerve-activity-and-blood-pressure
#10
Brian J Kinsman, Kirsteen N Browning, Sean D Stocker
Systemic or central infusion of hypertonic NaCl and other osmolytes readily stimulate thirst and vasopressin secretion. In contrast, central infusion of hypertonic NaCl produces a greater increase in arterial blood pressure (ABP) than equi-osmotic mannitol/sorbitol. Although these responses depend on neurons in the organum vasculosum of the lamina terminalis (OVLT), these observations suggest OVLT neurons may sense or respond differently to hypertonic NaCl versus osmolarity. The purpose of this study was to test this hypothesis in Sprague-Dawley rats...
July 5, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28675811/effects-of-expansion-sphincter-pharyngoplasty-on-the-apnea-hypopnea-index-and-heart-rate-variability
#11
Ahmet Emre Süslü, Gözde Pamuk, Ahmet Erim Pamuk, Serdar Özer, Shamkhal Jafarov, T Metin Önerci
PURPOSE: Heart rate variability (HRV) is a noninvasive and sensitive method used to evaluate autonomic function of the heart based on specific polysomnographic parameters. This study aimed to determine the effect of expansion sphincter pharyngoplasty (ESP) on HRV and the apnea-hypopnea index (AHI) in patients with obstructive sleep apnea (OSA). MATERIALS AND METHODS: This retrospective cohort study included patients who presented to the Department of Otorhinolaryngology, Hacettepe University Hospital (Ankara, Turkey), were diagnosed with OSA, and underwent ESP...
June 10, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28670336/the-relationship-between-salivary-amylase-and-the-physical-and-psychological-changes-elicited-by-continuation-of-autogenic-training-in-patients-with-functional-somatic-syndrome
#12
Tadashi Kiba, Tetsuya Abe, Kenji Kanbara, Fumie Kato, Sadanobu Kawashima, Yukie Saka, Kazumi Yamamoto, Yasuyuki Mizuno, Junji Nishiyama, Mikihiko Fukunaga
BACKGROUND: The aim of this study was to clarify the changes in biological measures during autogenic training (AT) sessions and the relationship between these biological measures and the changes in physical and psychological measures induced by continuation of AT in patients with functional somatic syndrome (FSS). We used the salivary amylase (SAMY) level, skin temperature of the finger (TEMP), subjective symptom scores, and psychological characteristics to assess these changes. METHODS: We assessed 24 patients with FSS and 23 healthy controls before and after AT...
2017: BioPsychoSocial Medicine
https://www.readbyqxmd.com/read/28666826/affective-symptoms-in-schizophrenia-are-strongly-associated-with-neurocognitive-deficits-indicating-disorders-in-executive-functions-visual-memory-attention-and-social-cognition
#13
Buranee Kanchanatawan, Supaksorn Thika, George Anderson, Piotr Galecki, Michael Maes
The aim of this study was to assess the neurocognitive correlates of affective symptoms in schizophrenia. Towards this end, 40 healthy controls and 80 schizophrenia patients were investigated with six tests of the Cambridge Neuropsychological Test Automated Battery (CANTAB), assessing spatial working memory, paired-association learning, one touch stocking, rapid visual information (RVP), emotional recognition test and intra/extradimensional set shifting. The Hamilton Depression (HDRS) and Anxiety (HAMA) Rating Scales and the Calgary Depression Scale for Schizophrenia (CDSS) as well as the Positive and Negative Syndrome Scale (PANSS) were also used...
June 27, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28666602/integrated-cardiovascular-respiratory-control-in-type-1-diabetes-evidences-functional-imbalance-possible-role-of-hypoxia
#14
L Bianchi, C Porta, A Rinaldi, C Gazzaruso, P Fratino, P DeCata, P Protti, R Paltro, L Bernardi
BACKGROUND: Cardiovascular (baroreflex) and respiratory (chemoreflex) control mechanisms were studied separately in diabetes, but their reciprocal interaction (well known for diseases like heart failure) had never been comprehensively assessed. We hypothesized that prevalent autonomic neuropathy would depress both reflexes, whereas prevalent autonomic imbalance through sympathetic activation would depress the baroreflex but enhance the chemoreflexes. METHODS: In 46 type-1 diabetic subjects (7...
June 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28666000/dynamic-wheelchair-seating-positions-impact-cardiovascular-function-after-spinal-cord-injury
#15
Jessica A Inskip, Henrike Rianne J C Ravensbergen, Inderjeet S Sahota, Christine Zawadzki, Lowell T McPhail, Jaimie F Borisoff, Victoria E Claydon
BACKGROUND: Innovative wheelchairs allow individuals to change position easily for comfort and social situations. While these wheelchairs are beneficial in multiple ways, the effects of position changes on blood pressure might exacerbate hypotension and cerebral hypoperfusion, particularly in those with spinal cord injury (SCI) who can have injury to autonomic nerves that regulate cardiovascular control. Conversely, cardiovascular benefits may be obtained with lowered seating. Here we investigate the effect of moderate changes in wheelchair position on orthostatic cardiovascular and cerebrovascular reflex control...
2017: PloS One
https://www.readbyqxmd.com/read/28664460/the-prevalence-and-pattern-of-chemotherapy-induced-peripheral-neuropathy-among-women-with-breast-cancer-receiving-care-in-a-large-community-oncology-practice
#16
Natalie B Simon, Michael A Danso, Thomas A Alberico, Ethan Basch, Antonia V Bennett
PURPOSE: To describe the prevalence, severity, and risk factors of chemotherapy-induced peripheral neuropathy (CIPN) and its impact on function and quality of life (QOL) among women treated for breast cancer in a large U.S. Community Oncology practice. METHODS: Women previously treated with taxane-based chemotherapy for early-stage breast cancer completed the EORTC QLQ-C30, QLQ-BR23, and QLQ-CIPN20. Subscales are scored 0-100; higher scores indicate greater symptom severity...
June 29, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28661101/-sex-differences-in-physiological-responses-to-pain-throughout-surgical-procedures
#17
Ariel Ronen, Tzippy Shochat, Leonid Eidelman
BACKGROUND: Recent research has shown that women and men respond differently to pain, and that biological mechanisms partially moderate sex-related differences in pain sensitivity. Previous pain studies regarding the relationship between pain and physiological aspects, such as brain function and hormone levels, have demonstrated gender differences. In this study we examined whether male and female autonomic reactivity patterns to pain, defined as increases in heart rate and blood pressure, differ throughout anesthetized abdominal surgical procedures...
June 2017: Harefuah
https://www.readbyqxmd.com/read/28659867/increased-short-term-beat-to-beat-qt-interval-variability-in-patients-with-impaired-glucose-tolerance
#18
Andrea Orosz, István Baczkó, Szabolcs Nyiraty, Anna E Körei, Zsuzsanna Putz, Róbert Takács, Attila Nemes, Tamás T Várkonyi, László Balogh, György Ábrahám, Péter Kempler, Julius Gy Papp, András Varró, Csaba Lengyel
Prediabetic states and diabetes are important risk factors for cardiovascular morbidity and mortality. Determination of short-term QT interval variability (STVQT) is a non-invasive method for assessment of proarrhythmic risk. The aim of the study was to evaluate the STVQT in patients with impaired glucose tolerance (IGT). 18 IGT patients [age: 63 ± 11 years, body mass index (BMI): 31 ± 6 kg/m(2), fasting glucose: 6.0 ± 0.4 mmol/l, 120 min postload glucose: 9.0 ± 1.0 mmol/l, hemoglobin A1c (HbA1c): 5...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28656620/autonomous-cortisol-secretion-in-adrenal-incidentalomas-and-increased-visceral-fat-accumulation-during-follow-up
#19
Serkan Yener, Mustafa Baris, Ahmet Peker, Omer Demir, Basak Ozgen, Mustafa Secil
OBJECTIVE: Autonomous cortisol secretion of adrenal incidentalomas (AIs) is associated with poor cardiovascular outcome. Because centripetal obesity is a cardiovascular risk factor, we aimed to investigate whether autonomous cortisol secretion is associated with increased visceral fat accumulation. DESIGN: Retrospective cohort study. PATIENTS: Patients with AIs who attended for follow-up between January 2014 and December 2016 were evaluated...
June 28, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28655059/association-of-autonomic-dysfunction-with-disease-progression-and-survival-in-parkinson-disease
#20
Eduardo De Pablo-Fernandez, Carmen Tur, Tamas Revesz, Andrew J Lees, Janice L Holton, Thomas T Warner
Importance: Evidence suggests that development of autonomic dysfunction (AutD) may negatively affect disease course and survival in patients with synucleinopathies. However, the few available studies on Parkinson disease (PD) have conflicting results, comprise a small number of patients, have short follow-up periods, and lack pathologic confirmation of the diagnosis. Objective: To examine the association of time of onset of AutD with disease progression and survival in PD...
June 26, 2017: JAMA Neurology
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