Allgrove syndrome is an autosomal recessive disease mostly caused by mutations in the gene. It has variable clinical features but its cardinal features comprise the triad of achalasia, alacrimia and adrenal insufficiency. It typically develops during the first decade of life, but some cases have second and third decades onset.
View Article and Find Full Text PDFIntroduction: Congenital Zika virus syndrome is a distinct pattern of birth defects in fetuses infected by the Zika virus. It presents a broad clinical spectrum that includes occurrences of microcephaly, hypertonia, dysphagia, hyperexcitability, seizures, and arthrogryposis. Imaging findings show neuronal migration disorders.
View Article and Find Full Text PDFArch Gerontol Geriatr
December 2020
Purpose: The progression of Parkinson's disease causes an increase in motor dysfunctions, which makes it necessary to evaluate and monitor these changes. This integrative review aimed to gather studies - without any language restrictions - on the use, advantages and disadvantages of portable accelerometers for the evaluation of spatio-temporal gait parameters in people with Parkinson's disease published between 2014 and 2019.
Methods: Articles were selected from the PubMed, Web of Science and Science Direct databases by combining descriptors from the Health Sciences Descriptors (DeCS) and Medical Subject Headings (MeSH) - "accelerometry", "accelerometer", "ActiGraph", "gait", "gait analysis", "gait rehabilitation", "walking inertial sensors", "Parkinson disease", "Parkinson" and "Parkinson's disease" - using OR and AND.
Background: Paralysis of the diaphragm in newborn infants can lead to recurrent infections and life-threatening respiratory insufficiency. The clinical diagnosis of unilateral diaphragmatic paralysis has been reported in infants with laboratory evidence of congenital Zika virus infection and/or the congenital Zika syndrome (CZS) phenotype but no evaluation of phrenic nerve function has been described. All reported infants have had accompanying arthrogryposis.
View Article and Find Full Text PDFObjective: To investigate parameters of lung function and respiratory muscle strength in different stages of Parkinson's disease (PD), as well as to determine their correlation with motor function and quality of life.
Methods: This was a cross-sectional study conducted at a referral center for PD in the city of Recife, Brazil. Respiratory muscle strength and lung function, as well as their relationship with motor function and quality of life, were evaluated in patients with PD, stratified by the level of severity, and were compared with the data obtained for a control group.
Methods: Ten PD patients in stages 1 and 2 of the Hoehn & Yahr classification were compared to 18 healthy controls. Artifact-free EEG segments of two seconds preceding the onset of the blink potential were averaged and analyzed, and the statistical significance of the measured amplitudes were evaluated by analysis of variance models.
Results: The presence of a BP in the PD patients was demonstrated.
Objective: To investigate the Bereitschaftspotential (BP) preceding spontaneous and voluntary eyelid blinks in normal subjects.
Methods: Eighteen healthy individuals (10 female) between 17 and 60years (mean 35) were studied. The EEG was recorded from 11 scalp positions of the 10-20 international electrode placement system referenced to linked mastoids.
Objective: To describe the clinical, radiological, and electromyographic features in a series of children with joint contractures (arthrogryposis) associated with congenital infection presumably caused by Zika virus.
Design: Retrospective case series study.
Setting: Association for Assistance of Disabled Children, Pernambuco state, Brazil.
Introduction: Auditory Neuropathy/Dyssynchrony is a disorder characterized by the presence of Otoacoustic Emissions and Cochlear Microphonic Potentials, an absence or severe alteration of Brainstem Evoked Auditory Potential, auditory thresholds incompatible with speech thresholds and altered acoustic reflexes. The study of the Cochlear Microphonic Potential appears to be the most important tool for an accurate diagnosis of this pathology.
Objective: Determine the characteristics of the Cochlear Microphonic in Auditory Neuropathy/Dyssynchrony using an integrative review.
Objective: To describe the clinical, electrophysiological and imaging findings from Parsonage-Turner syndrome and evaluate the results from conservative treatment.
Methods: Eight cases were studied between February 2010 and February 2012, with a minimum follow-up of one year (mean of 14 months). All the patients answered a clinical questionnaire and underwent functional evaluation using the Constant and Murley score.
Background. Sleep disorders are major nonmotor manifestations of patients with Parkinson's disease (PD), and excessive daytime sleepiness (EDS) is one of the most common symptoms. Objective.
View Article and Find Full Text PDFDysphagia
August 2014
The goal of this study was to obtain the limit of dysphagia and the average volume per swallow in patients with mild to moderate Parkinson's disease (PD) but without swallowing complaints and in normal subjects, and to investigate the relationship between them. We hypothesize there is a direct relationship between these two measurements. The study included 10 patients with idiopathic PD and 10 age-matched normal controls.
View Article and Find Full Text PDFSwallowing difficulties in Parkinson's disease can result in decreased quality of life. The swallowing quality of life questionnaire (SWAL-QOL) is an instrument for specifically assessing quality of life with respect to swallowing, which has been little explored in patients with Parkinson's disease (PD). The goal of this study was to evaluate the quality of life with respect to swallowing in persons with PD compared to controls and at several stages of the disease using the SWAL-QOL.
View Article and Find Full Text PDFObjective: To analyze the frequency of psychiatric comorbidities in patients with systemic lupus erythematosus (SLE) using the systematic review method.
Methods: A systematic literature search was performed between April and July 2011 in the following databases: BIREME, PubMed and CAPES thesis database. This search prioritized studies published over the last ten years (2001-2011), involving the presence of psychiatric comorbidities in patients with SLE.
Unlabelled: Vestibular evoked myogenic potentials (VEMP) have been used in complementary otoneurological assessment, but the use of VEMP in clinical settings is limited. VEMPs can be used to assess vestibular function, particularly of the saccule, the inferior vestibular nerve, and/or the vestibular nucleus.
Objective: To verify the highest possible - and reliable - stimulation rate to obtain VEMPs.
To investigate the association of the IL-6 gene promoter polymorphism (-174 G/C) with SLE susceptibility and disease features in Brazilian patients, a case-control study of 80 lupus cases and 60 volunteer healthy women was performed. Genotyping was carried out by polymerase chain reaction and PCR product was digested by HSP92II restriction enzyme, being after visualized in polyacrylamide gel. There were significant differences in the distribution of the IL-6 gene C/C polymorphism between the SLE and control groups (χ(2) = 8.
View Article and Find Full Text PDFObjective: Some case reports have suggested primary hyperparathyroidism (PHPT) and peripheral polyneuropathy (PPN) are associated; however, there are no reports of studies examining this possible relationship. The aim of this study was to evaluate peripheral nerve conduction in subjects with PHPT.
Methods: The study involved 17 patients with PHPT.
Background: During migraine attacks, patients generally have photophobia and phonophobia and seek for environments with less sensorial stimulation. Present work aimed to quantify cortical partial directed coherence (PDC) of electroencephalographic (EEG) recordings from migraine patients and controls in occipital, parietal, and frontal areas with or without photic stimulation. Our hypothesis is that migraine patients with visual aura might have neuronal networks with higher coherence than controls even in interictal periods due to a predisposition in sensory cortical processing.
View Article and Find Full Text PDFOur goal was to study deglutition of Parkinson's disease (PD) patients and normal controls (NC) using surface electromyography (sEMG). The study included 15 patients with idiopathic PD and 15 age-matched normal controls. Surface electromyography was collected over the suprahyoid muscle group.
View Article and Find Full Text PDFPurpose: To investigate sensory nerve conduction of the caudal nerve in normal and diabetic rats.
Methods: Diabetes was induced in twenty 8-weeks old Wistar male rats. Twenty normal rats served as controls.
Unlabelled: The temporal branch of the facial nerve is particularly vulnerable to traumatic injuries during surgical procedures. It may also be affected in clinical conditions. Electrodiagnostic studies may add additional information about the type and severity of injuries, thus allowing prognostic inferences.
View Article and Find Full Text PDFPurpose: To non-invasively study the sensory nerve conduction of the caudal nerve of normal developing rats.
Methods: Twenty normal Wistar male rats served as subjects. Caudal nerve conduction studies were performed at 60 days from birth and weekly at end of six consecutive weeks.
Background: the auditory steady state response (ASSR) is an electrophysiological procedure that evaluates, at the same time, the hearing thresholds of both ears at various frequencies. This procedure reduces the time of testing and enables the stimulation of levels close to 125dB HL, characterizing residual hearing.
Aim: to verify the applicability of the ASSR to determine the hearing thresholds in different levels of sensorineural hearing loss.
Purpose: To map the motor end-plate area of the anconeus muscle and define the best place for positioning the recording electrodes in repetitive stimulation tests (RST) for the diagnosis of neuromuscular transmission disorders.
Method: The compound muscle action potential of the anconeus was recorded after stimulating the motor branch of the radial nerve that innervates it. By analyzing the waveforms registered at each point of the skin we were able to define the motor end-plate area.