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BMC Ophthalmology May 2024Blepharoptosis is a common symptom in ophthalmology clinic, but eyelid retraction when smiling in a ptosis eye is a rare manifestation. Here we report a novel...
BACKGROUND
Blepharoptosis is a common symptom in ophthalmology clinic, but eyelid retraction when smiling in a ptosis eye is a rare manifestation. Here we report a novel manifestation that eyelid retraction during smiling in a patient with monocular congenital ptosis.
CASE DESCRIPTION
A 10-year-old girl with isolated and mild unilateral congenital ptosis showed eyelid retraction in ptotsis eye when smiling together with a lid lag on downgaze. She didn't have any systematic and ocular diseases other than myopia and astigmatism.Eyelid retraction during smiling is 5 mm, resulting in a significant difference in the height of bilateral palpebral fissures.As for ptosis, is mild.The margin to reflex distance 1 is 1.0 mm on the right eye(ptosis eye) and 3.0 mm on the left eye. A lid lag of 1.0 mm on downward gaze was noted on the right, she could close her eyes fully while sleeping.The ice pack test, laboratory test for thyroid function, whole-exome sequencing (WES) and magnetic resonance imaging(MRI) of the orbital and ocular motor nerves showed normal results.Her symptoms alleviated after 6 months, with the retraction of the right upper eyelid when smiling was approximately 3 mm, thus the difference in the palpebral fissure height when smiling was smaller than that at the initial presentation.
CONCLUSION
Blepharoptosis may accompanied with abnormal innervation like eyelid retraction, this phenomenon can be alleviated with age.The results of the levator muscle function test should be carefully examined to determine whether it is ptosis in an impaired innervation eyelid.
Topics: Humans; Female; Blepharoptosis; Child; Eyelids; Smiling; Oculomotor Muscles
PubMed: 38822301
DOI: 10.1186/s12886-024-03485-8 -
Frontiers in Physiology 2024This study investigated whether abnormal peak inversion spontaneous potentials (PISPs) recorded at resting myofascial trigger points (MTrPs) stem from the discharge of...
This study investigated whether abnormal peak inversion spontaneous potentials (PISPs) recorded at resting myofascial trigger points (MTrPs) stem from the discharge of muscle spindles. Forty-eight male Sprague-Dawley rats were randomly divided into six groups. Five groups underwent MTrP modeling intervention, whereas one group did not receive intervention and was duly designated as the blank control. After model construction, five rat models were randomly subjected to ramp-and-hold stretch tests, succinylcholine injection, eperisone hydrochloride injection, saline injection, and blank drug intervention. By contrast, the rats in the blank control group were subjected to ramp-and-hold stretch tests as a control. Frequencies and amplitudes of PISPs were recorded pre- and post-interventions and compared with those of the blank group. Stretch tests showed that the depolarization time and amplitude of PISPs ranged from 0.4 ms to 0.9 ms and from 80 uV to 140 μV, respectively. However, no PISPs were observed in the control rats. The frequency of PISPs in the ramp and hold phases and the first second after the hold phase was higher than that before stretching ( < 0.01). Succinylcholine and eperisone exerted excitatory and inhibitory effects on PISPs, respectively. In the group injected with 0.9% saline, no considerable differences of the PISPs were observed during the entire observation period. In conclusion, PISPs recorded at resting MTrPs are closely related to muscle spindles. The formation of MTrPs may be an important factor that regulate dysfunctional muscle spindles.
PubMed: 38808356
DOI: 10.3389/fphys.2024.1353407 -
Frontiers in Pediatrics 2024Gastroesophageal reflux (GER) disease (GERD) is a condition wherein GER causes troublesome symptoms that can affect daily functioning and/or clinical complications...
BACKGROUND
Gastroesophageal reflux (GER) disease (GERD) is a condition wherein GER causes troublesome symptoms that can affect daily functioning and/or clinical complications within the esophagus or other systems. To avoid this, patients with GERD often require treatment; hence, it is important to distinguish GER from GERD. Patients with GERD exhibiting alarm signs should be examined early to differentiate it from GER and treated accordingly. Herein, we present a case of GERD caused by a hiatal hernia that required surgical intervention for esophagial cicatrical stenosis despite oral treatment. We also discussed how to choose the appropriate acid suppressants for GERD.
CASE PRESENTATION
A 1-year-old boy was referred to our hospital for repeated vomiting and poor weight gain. He received histamine 2 receptor antagonists (H2RAs) that contributed slightly to the decreased frequency of vomiting and aided weight gain; however, he soon stopped gaining weight and had bloody vomit. His upper gastrointestinal series revealed hiatal hernia, a 24 h impedance pH monitoring test indicated abnormal values for acid reflux, and esophagogastroduodenoscopy (EGD) revealed esophagitis. He was subsequently diagnosed with GERD associated with hiatal hernia. A proton pump inhibitor (PPI) was intravenously administered to him, following which his medication was changed to a potassium-competitive acid blocker (P-CAB). Thereafter, his vomiting episodes significantly decreased and his weight increased. However, 6 months after starting P-CAB, his vomiting episodes suddenly increased in frequency. EGD revealed the presence esophageal stricture due to scarring from GERD. He was then treated via laparoscopic fundoplication, gastrostomy, and esophageal balloon dilation. Thereafter, his vomiting episodes stopped and food intake improved, leading to weight gain.
CONCLUSION
It is essential to identify the cause of GERD early and take an appropriate treatment approach depending on the cause of GERD with alarm signs. Further, as a drug therapy for GERD as a clear acid mediated disease or in children with alarm signs, PPIs or P-CAB should be used from the beginning instead of H2RAs.
PubMed: 38803638
DOI: 10.3389/fped.2024.1305585 -
Clinical Case Reports Jun 2024Although it is rare, physicians should be familiar with the presentation of lateral medullary syndrome (LMS). Urgent neuroimaging is crucial to distinguish LMS from...
KEY CLINICAL MESSAGE
Although it is rare, physicians should be familiar with the presentation of lateral medullary syndrome (LMS). Urgent neuroimaging is crucial to distinguish LMS from other causes of stroke. The majority experience significant improvement within months.
ABSTRACT
Lateral medullary syndrome is a rare type of stroke resulting from a vascular event in the lateral part of the medulla oblongata. Loss of pain and temperature in the ipsilateral side of the face, and contralateral side of the body along with ipsilateral ataxia, vertigo, nystagmus, dysphagia, and hiccups are the hallmark clinical presentation. We reported a case of a 51-year-old male with a long history of smoking and newly discovered hypertension who presented complaining of vomiting, regurgitation, and hiccups for 1 month; tingling and numbness sensation in the left side of the face and the right side of the body, and unsteady gait for 2 weeks. Neurological examinations revealed left-sided ptosis and miosis, diminished sensation of the three divisions of the trigeminal nerve, deviated uvula to the right side, absent gag reflex, and intention tremors. The patient received the appropriate treatment; showed a good recovery with his symptoms, was able to walk unsteady, and was discharged after 10 days in a good condition.
PubMed: 38803327
DOI: 10.1002/ccr3.8976 -
Journal of Magnetic Resonance Imaging :... May 2024Neonates with immature auditory function (eg, weak/absent middle ear muscle reflex) could conceivably be vulnerable to noise-induced hearing loss; however, it is unclear...
BACKGROUND
Neonates with immature auditory function (eg, weak/absent middle ear muscle reflex) could conceivably be vulnerable to noise-induced hearing loss; however, it is unclear if neonates show evidence of hearing loss following MRI acoustic noise exposure.
PURPOSE
To explore the auditory effects of MRI acoustic noise in neonates.
STUDY TYPE
Prospective.
SUBJECTS
Two independent cohorts of neonates (N = 19 and N = 18; mean gestational-age, 38.75 ± 2.18 and 39.01 ± 1.83 weeks).
FIELD STRENGTH/SEQUENCE
T1-weighted three-dimensional gradient-echo sequence, T2-weighted fast spin-echo sequence, single-shot echo-planar imaging-based diffusion-tensor imaging, single-shot echo-planar imaging-based diffusion-kurtosis imaging and T2-weighted fluid-attenuated inversion recovery sequence at 3.0 T.
ASSESSMENT
All neonates wore ear protection during scan protocols lasted ~40 minutes. Equivalent sound pressure levels (SPLs) were measured for both cohorts. In cohort1, left- and right-ear auditory brainstem response (ABR) was measured before (baseline) and after (follow-up) MRI, included assessment of ABR threshold, wave I, III and V latencies and interpeak interval to determine the functional status of auditory nerve and brainstem. In cohort2, baseline and follow-up left- and right-ear distortion product otoacoustic emission (DPOAE) amplitudes were assessed at 1.2 to 7.0 kHz to determine cochlear function.
STATISTICAL TEST
Wilcoxon signed-rank or paired t-tests with Bonferroni's correction were used to compare the differences between baseline and follow-up ABR and DPOAE measures.
RESULTS
Equivalent SPLs ranged from 103.5 to 113.6 dBA. No significant differences between baseline and follow-up were detected in left- or right-ear ABR measures (P > 0.999, Bonferroni corrected) in cohort1, or in DPOAE levels at 1.2 to 7.0 kHz in cohort2 (all P > 0.999 Bonferroni corrected except for left-ear levels at 3.5 and 7.0 kHz with corrected P = 0.138 and P = 0.533).
DATA CONCLUSION
A single 40-minute 3-T MRI with equivalent SPLs of 103.5-113.6 dBA did not result in significant transient disruption of auditory function, as measured by ABR and DPOAE, in neonates with adequate hearing protection.
EVIDENCE LEVEL
2.
TECHNICAL EFFICACY
Stage 5.
PubMed: 38777575
DOI: 10.1002/jmri.29450 -
Frontiers in Genetics 2024This report outlines the case of a child affected by a type of congenital disorder of glycosylation (CDG) known as ALG2-CDG (OMIM 607906), presenting as a congenital...
This report outlines the case of a child affected by a type of congenital disorder of glycosylation (CDG) known as ALG2-CDG (OMIM 607906), presenting as a congenital myasthenic syndrome (CMS) caused by variants identified in , which encodes an α1,3-mannosyltransferase (EC 2.4.1.132) involved in the early steps of N-glycosylation. To date, fourteen cases of ALG2-CDG have been documented worldwide. From birth, the child experienced perinatal asphyxia, muscular weakness, feeding difficulties linked to an absence of the sucking reflex, congenital hip dislocation, and hypotonia. Over time, additional complications emerged, such as inspiratory stridor, gastroesophageal reflux, low intake, recurrent seizures, respiratory infections, an inability to maintain the head upright, and a global developmental delay. Whole genome sequencing (WGS) revealed the presence of two variants in compound heterozygosity: a novel variant c.1055_1056delinsTGA p.(Ser352Leufs*3) and a variant of uncertain significance (VUS) c.964C>A p.(Pro322Thr). Additional studies, including determination of carbohydrate-deficient transferrin (CDT) revealed a mild type I CDG pattern and the presence of an abnormal transferrin glycoform containing a linear heptasaccharide consisting of one sialic acid, one galactose, one N-acetyl-glucosamine, two mannoses and two N-acetylglucosamines (NeuAc-Gal-GlcNAc-Man2-GlcNAc2), ALG2-CDG diagnostic biomarker, confirming the pathogenicity of these variants.
PubMed: 38770420
DOI: 10.3389/fgene.2024.1363558 -
Diabetic Medicine : a Journal of the... May 2024Impaired awareness of hypoglycaemia (IAH) increases the risk of severe hypoglycaemia in people with type 1 diabetes mellitus (T1DM). IAH can be reversed through...
AIMS
Impaired awareness of hypoglycaemia (IAH) increases the risk of severe hypoglycaemia in people with type 1 diabetes mellitus (T1DM). IAH can be reversed through meticulous avoidance of hypoglycaemia. Diabetic autonomic neuropathy (DAN) has been proposed as an underlying mechanism contributing to IAH; however, data are inconsistent. The aim of this study was to examine the effects of cardiac autonomic neuropathy (CAN) on IAH reversibility inT1DM.
METHODS
Participants with T1DM and IAH (Gold score ≥4) recruited to the HypoCOMPaSS (24-week 2 × 2 factorial randomised controlled) trial were included. All underwent screening for cardiac autonomic function testing at baseline and received comparable education and support aimed at avoiding hypoglycaemia and improving hypoglycaemia awareness. Definite CAN was defined as the presence of ≥2 abnormal cardiac reflex tests. Participants were grouped according to their CAN status, and changes in Gold score were compared.
RESULTS
Eighty-three participants (52 women [62.7%]) were included with mean age (SD) of 48 (12) years and mean HbA1c of 66 (13) mmol/mol (8.2 [3.3] %). The mean duration of T1DM was 29 (13) years. The prevalence of CAN was low with 5/83 (6%) participants having definite autonomic neuropathy with 11 (13%) classified with possible/early neuropathy. All participants, regardless of the autonomic function status, showed a mean improvement in Gold score of ≥1 (mean improvement -1.2 [95% CI -0.8, -1.6]; p < 0.001).
CONCLUSIONS
IAH can be improved in people with T1DM, and a long duration of disease, with and without cardiac autonomic dysfunction. These data suggest that CAN is not a prime driver for modulating IAH reversibility.
PubMed: 38741266
DOI: 10.1111/dme.15340 -
International Journal of Audiology May 2024To examine the origin of cervical vestibular evoked myogenic potential (cVEMP) late waves (n34-p44) elicited with air-conducted click stimuli.
OBJECTIVE
To examine the origin of cervical vestibular evoked myogenic potential (cVEMP) late waves (n34-p44) elicited with air-conducted click stimuli.
DESIGN
Using a retrospective design, cVEMPs from normal volunteers were compared to those obtained from patients with vestibular and auditory pathologies.
STUDY SAMPLE
(1) Normal volunteers (n = 56); (2) severe-to-profound sensorineural hearing loss (SNHL) with normal vestibular function (n = 21); (3) peripheral vestibular impairment with preserved hearing (n = 16); (4) total vestibulocochlear deficit (n = 23).
RESULTS
All normal volunteers had ipsilateral-dominant early p13-n23 peaks. Late peaks were present bilaterally in 78%. The p13-n23 response was present in all patients with SNHL but normal vestibular function, and 43% had late waves. Statistical comparison of these patients to a subset of age-matched controls showed no significant difference in the frequencies, amplitudes or latencies of their ipsilateral early and late peaks. cVEMPs were absent in all patients with vestibular impairment.
CONCLUSION
The presence of long-latency cVEMP waves was not dependent on the integrity of sensorineural hearing pathways, but instead correlated with intact vestibular function. This finding conflicts with the view that these late waves are cochlear in origin, and suggests that vestibular afferents may assume a more prominent role in their generation.
PubMed: 38739080
DOI: 10.1080/14992027.2024.2341101 -
The Journal of the Acoustical Society... May 2024Medial olivocochlear (MOC) efferents modulate outer hair cell motility through specialized nicotinic acetylcholine receptors to support encoding of signals in noise....
Medial olivocochlear (MOC) efferents modulate outer hair cell motility through specialized nicotinic acetylcholine receptors to support encoding of signals in noise. Transgenic mice lacking the alpha9 subunits of these receptors (α9KOs) have normal hearing in quiet and noise, but lack classic cochlear suppression effects and show abnormal temporal, spectral, and spatial processing. Mice deficient for both the alpha9 and alpha10 receptor subunits (α9α10KOs) may exhibit more severe MOC-related phenotypes. Like α9KOs, α9α10KOs have normal auditory brainstem response (ABR) thresholds and weak MOC reflexes. Here, we further characterized auditory function in α9α10KO mice. Wild-type (WT) and α9α10KO mice had similar ABR thresholds and acoustic startle response amplitudes in quiet and noise, and similar frequency and intensity difference sensitivity. α9α10KO mice had larger ABR Wave I amplitudes than WTs in quiet and noise. Other ABR metrics of hearing-in-noise function yielded conflicting findings regarding α9α10KO susceptibility to masking effects. α9α10KO mice also had larger startle amplitudes in tone backgrounds than WTs. Overall, α9α10KO mice had grossly normal auditory function in quiet and noise, although their larger ABR amplitudes and hyperreactive startles suggest some auditory processing abnormalities. These findings contribute to the growing literature showing mixed effects of MOC dysfunction on hearing.
Topics: Animals; Female; Male; Mice; Acoustic Stimulation; Auditory Pathways; Auditory Perception; Auditory Threshold; Behavior, Animal; Cochlea; Evoked Potentials, Auditory, Brain Stem; Hearing; Mice, Inbred C57BL; Mice, Knockout; Noise; Olivary Nucleus; Perceptual Masking; Phenotype; Receptors, Nicotinic; Reflex, Startle
PubMed: 38738939
DOI: 10.1121/10.0025985 -
Annals of Translational Medicine Apr 2024This paper explores a practical approach to pelvic floor health called the Skilling technique. Unlike the commonly recommended "squeezing upwards" method which teaches a... (Review)
Review
This paper explores a practical approach to pelvic floor health called the Skilling technique. Unlike the commonly recommended "squeezing upwards" method which teaches a woman to voluntarily squeeze upwards (a learnt technique), the Skilling method is entirely reflex: the squatting-based exercises on which it is based, strengthen the three reflex pelvic muscle forces which pull against the suspensory ligaments pubourethral ligament (PUL) and uterosacral ligament (USL) to: close the urethra during effort (control of stress incontinence), open the urethra during micturition, and stretch the vagina in opposite directions to control inappropriate activation of the micturition reflex [overactive bladder (OAB)]. The strengthened ligaments better support the pelvic visceral plexuses (VPs), which unsupported, can fire off impulses which the brain interprets as "chronic pelvic pain". This review investigates the impact of the Skilling technique on pain, bladder and bowel symptoms in women. In premenopausal women, results show a 50% symptom improvement in 68% to 82% of women who have chronic pelvic pain, urge, frequency, nocturia, abnormal emptying, and post-void residual urine. A modified Skilling technique was applied in children aged 6-11 years with day/night enuresis. Remarkably, an 86% cure rate was achieved over 4 months. It was hypothesized that this accelerated cure, which is achieved naturally with age, may be connected to the reinforcement of collagen which occurs with the increase in pubertal hormones. In summary, the Skilling technique is a promising and accessible method to enhance pelvic floor health for both women and children, offering a practical alternative to traditional approached like Kegel exercises.
PubMed: 38721461
DOI: 10.21037/atm-23-1768