scholarly journals High Rate of Autonomic Neuropathy in Cornelia De Lange Syndrome

2021 ◽  
Author(s):  
Maria Jesus Pablo ◽  
Pilar Pamplona ◽  
Maria Haddad ◽  
Isabel Benavente ◽  
Ana Latorre-Pellicer ◽  
...  
Keyword(s):  
Nervous System ◽  
Sensory Nerve ◽  
Growth Failure ◽  
Sympathetic Skin Response ◽  
Clinical Score ◽  
Premature Aging ◽  
High Rate ◽  
Cornelia De Lange Syndrome ◽  
Skin Response ◽  
Cornelia De Lange

Abstract BackgroundCornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence.MethodSomatic nervous system was evaluated by conventional motor and sensory nerve conduction studies and autonomic nervous system by heart rate variability, sympathetic skin response and sudomotor testing. CdLS Clinical Score and genetic studies were also obtained.ResultsSympathetic skin response and sudomotor test were pathological in 35% and 34% of the individuals with CdLS, respectively. Nevertheless, normal values in large fiber nerve function studies.ConclusionsAutonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange syndrome, and could be related to premature aging.

scholarly journals High rate of autonomic neuropathy in Cornelia de Lange Syndrome

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
M. J. Pablo ◽  
P. Pamplona ◽  
M. Haddad ◽  
I. Benavente ◽  
A. Latorre-Pellicer ◽  
...  
Keyword(s):  
Nervous System ◽  
Autonomic Nervous System ◽  
Sensory Nerve ◽  
Sympathetic Skin Response ◽  
Premature Aging ◽  
High Rate ◽  
Cornelia De Lange Syndrome ◽  
Autonomic Nervous ◽  
Skin Response ◽  
Cornelia De Lange

Abstract Background Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence. Method Somatic nervous system was evaluated by conventional motor and sensory nerve conduction studies and autonomic nervous system by heart rate variability, sympathetic skin response and sudomotor testing. CdLS Clinical Score and genetic studies were also obtained. Results Sympathetic skin response and sudomotor test were pathological in 35% and 34% of the individuals with CdLS, respectively. Nevertheless, normal values in large fiber nerve function studies. Conclusions Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange Syndrome, and could be related to premature aging.

scholarly journals Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

2020 ◽  
Vol 21 (3) ◽  
pp. 1042 ◽  
Author(s):  
Ana Latorre-Pellicer ◽  
Ángela Ascaso ◽  
Laura Trujillano ◽  
Marta Gil-Salvador ◽  
Maria Arnedo ◽  
...  
Keyword(s):  
Clinical Diagnosis ◽  
Prediction Accuracy ◽  
Genetic Diseases ◽  
Clinical Score ◽  
Cornelia De Lange Syndrome ◽  
Computer Assisted ◽  
Causal Genes ◽  
Facial Pattern ◽  
Computer Assisted Image ◽  
Cornelia De Lange

Characteristic or classic phenotype of Cornelia de Lange syndrome (CdLS) is associated with a recognisable facial pattern. However, the heterogeneity in causal genes and the presence of overlapping syndromes have made it increasingly difficult to diagnose only by clinical features. DeepGestalt technology, and its app Face2Gene, is having a growing impact on the diagnosis and management of genetic diseases by analysing the features of affected individuals. Here, we performed a phenotypic study on a cohort of 49 individuals harbouring causative variants in known CdLS genes in order to evaluate Face2Gene utility and sensitivity in the clinical diagnosis of CdLS. Based on the profile images of patients, a diagnosis of CdLS was within the top five predicted syndromes for 97.9% of our cases and even listed as first prediction for 83.7%. The age of patients did not seem to affect the prediction accuracy, whereas our results indicate a correlation between the clinical score and affected genes. Furthermore, each gene presents a different pattern recognition that may be used to develop new neural networks with the goal of separating different genetic subtypes in CdLS. Overall, we conclude that computer-assisted image analysis based on deep learning could support the clinical diagnosis of CdLS.

scholarly journals Neurophysiological features in patients with migraine at risk for epilepsy

2021 ◽  
Vol 13 (3) ◽  
pp. 226-236
Author(s):  
N. D. Sorokina ◽  
A. V. Tsagashek ◽  
S. S. Pertsov ◽  
G. V. Selitsky ◽  
A. S. Zherdeva
Keyword(s):  
Heart Rate ◽  
Heart Rate Variability ◽  
Nervous System ◽  
Pain Syndrome ◽  
Sympathetic Skin Response ◽  
Episodic Migraine ◽  
Autonomous Nervous System ◽  
Bioelectric Activity ◽  
Skin Response ◽  
Physiological Tests

Objective: to study the electrophysiological parameters of brain bioelectric activity and features of the autonomous nervous system assessing heart rate variability, sympathetic skin response, clinical and physiological tests depending on the lateralization of migraine pain syndrome in the right or left brain hemisphere in patients with epileptic electroencephalogram (EEG) signs and migraine.Material and methods. Thirty six patients with aura-free episodic migraine at risk of developing epilepsy and 9 age-matched healthy subjects were examined. All participants underwent EEG, clinical and physiological tests, assessment of heart rate variability and sympathetic skin response.Results. Patients with right-hemisphere migraine headache had signs of activated sympathetic nervous system at baseline level and during exercise, lower baseline EEG epileptiform activity and in provocative tests. In contrast to the subjects of this group, patients of other group featured with a more stable migraine pain syndrome in the left hemisphere tended to dominate with functional activity of the parasympathetic system such as increased trophotropic support during exercise, as well as greater magnitude of baseline epileptiform bioelectric activity and during load tests.Conclusion. Values of heart rate variability in combination with objective results of clinical and physiological assessment of the autonomous nervous system and electrophysiological parameters of brain bioelectric activity are reliable prognostic indicators for varying functional conditions in patients with episodic migraine.

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type ofNIPBLmutation

2007 ◽  
Vol 72 (2) ◽  
pp. 98-108 ◽  
Author(s):  
A Selicorni ◽  
S Russo ◽  
C Gervasini ◽  
P Castronovo ◽  
D Milani ◽  
...  
Keyword(s):  
Clinical Score ◽  
Cornelia De Lange Syndrome ◽  
Cornelia De Lange

High rate of mosaicism in individuals with Cornelia de Lange syndrome

2013 ◽  
Vol 50 (5) ◽  
pp. 339-344 ◽  
Author(s):  
Sylvia A Huisman ◽  
Egbert J W Redeker ◽  
Saskia M Maas ◽  
Marcel M Mannens ◽  
Raoul C M Hennekam
Keyword(s):  
High Rate ◽  
Cornelia De Lange Syndrome ◽  
Cornelia De Lange

scholarly journals The Cardiac R-R Variation and Sympathetic Skin Response in the Intensive Care Unit

2007 ◽  
Vol 34 (3) ◽  
pp. 313-315 ◽  
Author(s):  
Charles Bolton ◽  
Jillian Thompson ◽  
Linda Bernardi ◽  
Christopher Voll ◽  
Bryan Young
Keyword(s):  
Intensive Care Unit ◽  
Nervous System ◽  
Intensive Care ◽  
Autonomic Nervous System ◽  
Neurological Disorders ◽  
Sympathetic Skin Response ◽  
Assisted Ventilation ◽  
Icu Patients ◽  
Autonomic Nervous ◽  
Skin Response

Background and Purpose:The central and peripheral nervous systems are often affected in intensive care unit (ICU) patients, especially those with prolonged assisted ventilation and sepsis or systemic inflammatory response syndrome (SIRS). The autonomic nervous system, however, has been under-investigated in such patients. We evaluated autonomic nervous system (ANS) function in 29 ICU patients with various neurological disorders.Methods:Testing involved cardiac R-R variation (CRRV) as an index of parasympathetic function and the sympathetic skin response (SSR) for sympathetic assessment.Results:Only those 8 patients with sepsis-related neuropathy or encephalopathy had abnormal CRRV, while the SSR was absent in all but 2 patients.Conclusions:Our preliminary study revealed a high incidence of autonomic dysfunction in ICU patients with various neurological disorders.

scholarly journals Noninvasive measurements to evaluate the effects of military training on the human autonomic nervous system

2014 ◽  
Vol 8 (4) ◽  
pp. 453-461 ◽  
Author(s):  
Ji-Hong Chen ◽  
Qian Zhang ◽  
Xin Liu ◽  
Zhixin Li ◽  
Cuizhen Zhang ◽  
...  
Keyword(s):  
Heart Rate ◽  
Heart Rate Variability ◽  
Nervous System ◽  
Autonomic Nervous System ◽  
Military Training ◽  
Low Frequency ◽  
Sympathetic Skin Response ◽  
Pacemaker Activity ◽  
Autonomic Nervous ◽  
Skin Response

AbstractBackground: Chinese university freshmen receive 4-weeks military training that involved moderate to intense physical exercise. Studies have demonstrated heterogeneous effects of exercise on the autonomic nervous system.Objective: To evaluate the effects of training on the autonomic nervous system noninvasively using electrogastrograms, heart rate variability (HRV), pulse rate, and the sympathetic skin response (SSR).Methods: Twenty freshmen received all assessments in the fasting state and after a standard meal: (1) one week before the training, (2) at the end of the second week of the training, and (3) one week after the training.Results: (1) The training had a significant effect on meal-induced gastric pacemaker activity. Before the training, a standard meal did not increase the dominant frequency of gastric slow waves, but the frequency increased during and after the training; (2) The preprandial high frequency (HF), low frequency (LF), and very low frequency (VLF) components of heart rate variability decreased significantly after the training. The ratio of the LF and HF (LF/HF) of the heart rate variability (HRV) did not significantly change after a meal or training condition. The basal pulse rate did not change. The latencies of the sympathetic skin response (SSR), as measured in the arm muscle, increased in response to the training.Conclusion: Military training affects meal-induced changes in gastric pacemaker activity, causes a marked reduction of the vagal tone to the heart with maintenance of the vagal-sympathetic balance, and its effects on SSR may reflect a reduction in sympathetic tone.

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