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[Zhonghua Yan Ke Za Zhi] Chinese... Jun 2024To explore the changes in gray matter volume of the cerebral cortex in patients with intermittent exotropia (IXT) using the voxel-based analysis and to analyze the...
To explore the changes in gray matter volume of the cerebral cortex in patients with intermittent exotropia (IXT) using the voxel-based analysis and to analyze the correlation between these changes and clinical manifestations. This was a cross-sectional study. A collection of 15 consecutive patients diagnosed with IXT at Tianjin Eye Hospital from March 2021 to May 2022 formed the exotropia group, which comprised 8 males and 7 females, with an average age of (23.5±5.2) years. Ten healthy individuals, 3 males and 7 females, with an average age of (27.0±7.5) years, were selected as the control group. All participants underwent assessments of exotropia severity and Titmus stereoacuity. Three-dimensional high-resolution brain images were obtained through MRI scans. Voxel-based morphometry was employed to preprocess the MRI data, and the SPM toolbox in MATLAB was utilized to analyze differences of images between the two groups. Regions of interest (ROI) with structural abnormalities in the gray matter volume analysis were selected, and the ratio of gray matter voxel values in the ROI to the mean gray matter voxel values of the whole brain for each participant was calculated using the MarsBaR software. The correlation between this ratio and exotropia severity as well as the common logarithm of Titmus stereoacuity was analyzed. The differences in age, gender distribution, and refractive error between the two groups were not statistically significant (all >0.05). However, there were statistically significant differences in the degree of strabismus and Titmus stereoacuity (both <0.001). Compared to the control group, patients in the strabismus group exhibited decreased gray matter volume in several brain regions, including the wedges of the medial surface of the cerebral hemisphere (decreased by 89 voxels), the left lingual gyrus (decreased by 176 voxels), the left calcarine sulcus V3 area (decreased by 30 voxels), the central anterior gyrus of the right frontal lobe (decreased by 192 voxels), the gray matter of the left hippocampal gyrus (decreased by 20 voxels), and the bilateral lateral geniculate nuclei (decreased by 100 and 40 voxels on the left and right sides, respectively). These differences were all statistically significant (all 0.001). Additionally, there was an increase in gray matter volume in several brain regions, including the bilateral caudate nuclei (increased by 60 and 76 voxels on the left and right sides, respectively) and the left precentral gyrus (increased by 36 voxels). These differences were also statistically significant (all <0.001). A group-level analysis identified 10 brain regions with structural differences between the two groups, which were used as ROI. The gray matter volume ratio was negatively correlated with the degree of exotropia (all <0.05) in the ROI of the left wedges (=-0.670), left calcarine sulcus V3 area (=-0.610), and left lingual gyrus (=-0.684). The gray matter volume ratio was negatively correlated with lgTS (all <0.05) in the ROI of the left wedges (=-0.568) and the central anterior gyrus of the right frontal lobe (=-0.563). Patients with IXT exhibit decreased gray matter volume in the horizontal connection areas between the primary visual cortices V1 and V2. The reduction in gray matter volume of the lingual gyrus and the dorsal visual pathway V3 area becomes more pronounced with increasing exotropia severity, while the gray matter volume of the precentral gyrus (BA6 area) decreases with worsening stereoacuity.
Topics: Humans; Male; Female; Gray Matter; Magnetic Resonance Imaging; Exotropia; Cross-Sectional Studies; Young Adult; Adult; Cerebral Cortex; Case-Control Studies
PubMed: 38825952
DOI: 10.3760/cma.j.cn112142-20231014-00140 -
Genome Medicine May 2024Congenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant...
BACKGROUND
Congenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant morbidity for affected people. Variants in 67 genes are associated with CH, but a vast majority of CH cases lack a genetic diagnosis. Whole exome and whole genome sequencing of CH patients identifies sequence variants in genes known to cause CH, and in new candidate genes, but many of these are variants of uncertain significance (VUS).
METHODS
The International Mouse Phenotyping Consortium (IMPC) is an effort to establish gene function by knocking-out all genes in the mouse genome and generating corresponding phenotype data. We used mouse embryonic imaging data generated by the Deciphering Mechanisms of Developmental Disorders (DMDD) project to screen 209 embryonic lethal and sub-viable knockout mouse lines for pituitary malformations.
RESULTS
Of the 209 knockout mouse lines, we identified 51 that have embryonic pituitary malformations. These genes not only represent new candidates for CH, but also reveal new molecular pathways not previously associated with pituitary organogenesis. We used this list of candidate genes to mine whole exome sequencing data of a cohort of patients with CH, and we identified variants in two unrelated cases for two genes, MORC2 and SETD5, with CH and other syndromic features.
CONCLUSIONS
The screening and analysis of IMPC phenotyping data provide proof-of-principle that recessive lethal mouse mutants generated by the knockout mouse project are an excellent source of candidate genes for congenital hypopituitarism in children.
Topics: Hypopituitarism; Animals; Humans; Pituitary Gland; Mice, Knockout; Mice; Phenotype; Female; Male; Disease Models, Animal; Exome Sequencing; Septo-Optic Dysplasia
PubMed: 38822427
DOI: 10.1186/s13073-024-01347-y -
The Medical Journal of Malaysia May 2024Acute acquired concomitant esotropia (AACE) is an uncommon type of strabismus that occurs due to interruption of fusion. Limited data are available on AACE from Asian...
INTRODUCTION
Acute acquired concomitant esotropia (AACE) is an uncommon type of strabismus that occurs due to interruption of fusion. Limited data are available on AACE from Asian countries especially from the Southeast Asian region. We aim to describe the clinical profile and surgical outcomes of AACE patients treated in a tertiary hospital in Malaysia.
MATERIALS AND METHODS
We conducted a retrospective study of 20 patients aged 3-26 years who were diagnosed with AACE and attended Hospital Universiti Sains Malaysia, Kelantan, Malaysia, between January 2020 and June 2022 with follow-up periods a minimum of 12 months. Demographic data, clinical features, neuroimaging, surgical intervention, and final ocular alignment outcomes were recorded.
RESULTS
The mean age of onset was 9.7±6.6 years. There were equal numbers of males and females in this study. Hypermetropia (45%) was the leading refractive error. Angle of deviation of 50 PD and more was documented in 50% of the patients at distance, and 70% of the patients at near fixation. Fifty per cent had an absence of stereoacuity at presentation. Neuroimaging was performed on 13 patients (65%), and two patients had intracranial pathology. All patients underwent bilateral medial rectus recession during primary surgery. Eighteen patients (90%) experienced excessive near work-related activities for >4 hours per day, and 19 patients (95%) achieved good ocular alignment, restoration of stereoacuity and resolved diplopia after the surgical intervention.
CONCLUSION
The mean age of onset was 9.7±6.6 years. Almost half of our patients had uncorrected hypermetropia. Furthermore, 90% of patients had excessive near-work activities, and 95% achieved good post-surgery alignment.
Topics: Humans; Esotropia; Male; Female; Malaysia; Retrospective Studies; Tertiary Care Centers; Adult; Adolescent; Child; Young Adult; Child, Preschool; Ophthalmologic Surgical Procedures; Treatment Outcome; Oculomotor Muscles
PubMed: 38817064
DOI: No ID Found -
Movement Disorders Clinical Practice May 2024
PubMed: 38816944
DOI: 10.1002/mdc3.14126 -
BMC Ophthalmology May 2024Preoperative prism adaptation (PPA) simulates postoperative status and possibly can predict postoperative undercorrection before surgery in esotropia. The present study...
BACKGROUND
Preoperative prism adaptation (PPA) simulates postoperative status and possibly can predict postoperative undercorrection before surgery in esotropia. The present study aimed to assess the effect of 4-week PPA in preventing postoperative residual esotropia.
METHODS
Seventy-five (75) esotropes who had undergone surgery at a single strabismus center were retrospectively enrolled. They included 25 basic, 31 acute comitant, 10 partially accommodative, and 9 recurrent esotropia patients. The preoperative deviation angle, which had been determined using the alternating prism and cover test, was fully corrected with press-on prisms 4 weeks before surgery. If there was an increase of 5 PD or more of esodeviation, the prisms were changed accordingly at 2 weeks. The deviation angle measured at 4 weeks was determined as the surgical target angle. Patients were then divided into increase (≥ 5 PD increase of angle during 4-week PPA) and non-increase groups. Success was defined as either esodeviation of 8 PD or under or exodeviation of 5 PD or under at distance at postoperative 6 months.
RESULTS
The increase group included 44 patients (58.7%). The mean deviation angle before PPA was 27.4 PD, and after the 4-week PPA, there was an average increase of 9.4 PD. The success rate was 90.9% in the increase group and 96.8% in the non-increase group (p = 0.316). There were no intergroup differences in preoperative clinical characteristics, esotropia types, postoperative deviation angle or postoperative near stereopsis (p > 0.05).
CONCLUSIONS
The results of this study indicated a beneficial effect of 4-week PPA in esotropia of various types, specifically by uncovering the hidden esodeviation in the increase group and simulating the postoperative alignment in both the increase and the non-increase groups.
Topics: Humans; Esotropia; Male; Retrospective Studies; Female; Ophthalmologic Surgical Procedures; Oculomotor Muscles; Child, Preschool; Vision, Binocular; Child; Eyeglasses; Visual Acuity; Postoperative Complications; Adolescent; Preoperative Care; Adaptation, Ocular; Postoperative Period; Adult
PubMed: 38802826
DOI: 10.1186/s12886-024-03490-x -
Strabismus Jun 2024: The study cohort comprised five patients, each presenting with unilateral high axial myopia and classic clinical features of HES, including large angle esotropia,...
: The study cohort comprised five patients, each presenting with unilateral high axial myopia and classic clinical features of HES, including large angle esotropia, hypotropia, and restricted abduction and supraduction. All patients displayed evident superotemporal globe prolapse on MRI imaging, corresponding to the downward displacement of the LR muscle and medial shift of the SR muscle.Following the surgical procedure, all patients demonstrated significant improvements in both vertical and horizontal deviations, effectively addressing the primary clinical manifestations of HES. : In the management of HES, several surgical approaches have been explored, yielding mixed results. Our study, employing the technique of partial muscle splitting and scleral fixation, offers a promising avenue for effectively addressing this challenging condition. By adapting the full loop myopexy technique originally proposed by Yokoyama et al. we achieved satisfactory ocular alignment in all five patients. Notably, this approach mitigates the risk of anterior segment ischemia by preserving the unsecured portions of the SR and LR muscles along with MR retroequatorial myopexy.These findings support the consideration of this surgical technique as a safe and effective option for managing HES, providing both cosmetic and functional improvements to afflicted individuals.
Topics: Humans; Oculomotor Muscles; Female; Male; Ophthalmologic Surgical Procedures; Adult; Middle Aged; Magnetic Resonance Imaging; Treatment Outcome; Esotropia; Eye Movements; Myopia, Degenerative
PubMed: 38801053
DOI: 10.1080/09273972.2024.2358074 -
Scientific Reports May 2024Understanding the association between dipstick-detected proteinuria and oculomotor cranial nerve palsy (CNP) could have significant implications for understanding the...
Understanding the association between dipstick-detected proteinuria and oculomotor cranial nerve palsy (CNP) could have significant implications for understanding the mechanism of CNP development and for developing preventive strategies against CNP development in patients with proteinuria. This study aimed to determine the relationship between dipstick-determined proteinuria and ocular motor CNP using National Sample Cohort (NSC) database from Korea's National Health Insurance Service (NHIS). A nationwide population-based cohort study was conducted using data from the NSC database of Korea's NHIS. These data were collected from 2009 to 2018. A one-year time lag was established to prevent a situation in which the causal link was inverted. Participants aged 20 years or more who were diagnosed with proteinuria in 2009 were included. Individuals with specific pre-existing CNP, missing data, and those who were newly diagnosed with CNP or who died within one year of being tested were excluded. The study population was classified into six groups according to the degree of proteinuria (negative, trace, or between 1 + and 4 +) based on the urine dipstick test. A Cox proportional hazard regression analysis was performed to determine the linkage between the degree of proteinuria and ocular motor CNP. A total of 5,807 (0.14% of subjects) with ocular motor CNP were assigned to the ocular motor CNP group and 4,047,205 subjects were assigned to the control group. After full adjustment of comorbidities, hazard ratios (HRs) for 1 + , 2 + , 3 + and 4 + proteinuria groups were 1.449 (95% confidence interval [CI] 1.244-1.687), 2.081 (1.707-2.538), 1.96 (1.322-2.904), and 3.011 (1.507-6.014), respectively, for developing ocular motor CNP compared to the proteinuria-negative group. In subgroup analysis, the HR of patients with proteinuria for the development of ocular motor CNP was higher in the younger age group (less than 40 years) (P = 0.0242) and the group with DM (P = 0.04). Our population-based cohort study demonstrated a significant association between proteinuria and the incidence of CNP, suggesting that urine protein level could be a new clinical marker for predicting the development of CNP.
Topics: Humans; Male; Female; Middle Aged; Proteinuria; Republic of Korea; Adult; Oculomotor Nerve Diseases; Aged; Risk Factors; Cohort Studies; Young Adult; Proportional Hazards Models
PubMed: 38797738
DOI: 10.1038/s41598-024-62576-0 -
Medicine May 2024Miller-Fisher syndrome (MFS) is a rare subtype of Guillain-Barre syndrome with classic features of ataxia, areflexia, and ophthalmoplegia that can be caused by a...
RATIONALE
Miller-Fisher syndrome (MFS) is a rare subtype of Guillain-Barre syndrome with classic features of ataxia, areflexia, and ophthalmoplegia that can be caused by a preceding infection including COVID-19. We present a current, asymptomatic thrombocytopenic COVID-19 infection as a cause of MFS in a 60-year-old male with a concurrent chronic immune neuropathy.
PATIENT CONCERNS
A 60-year-old male presenting with acute symptoms of MFS including ataxia, areflexia, and ophthalmoplegia on a chronic immune neuropathy for at least 1 year and concurrent asymptomatic COVID-19 positive infection.
DIAGNOSIS
MFS suspected secondary to a current thrombocytopenic COVID-19 infection.
INTERVENTIONS
Five days of intravenous immune globulin with continued monthly intravenous immune globulin as an outpatient, follow-up long-term in a neuromuscular clinic, electromyography as an outpatient, and continued physical therapy.
OUTCOMES
The patient significantly improved after initial treatment.
LESSONS
The full effect of COVID-19 on the various Guillain-Barre syndrome subtypes is unknown, although it clearly can be a cause of the various variants including being caused by a current, asymptomatic infection.
Topics: Humans; Miller Fisher Syndrome; Male; COVID-19; Middle Aged; Immunoglobulins, Intravenous; SARS-CoV-2; Thrombocytopenia
PubMed: 38788032
DOI: 10.1097/MD.0000000000038304 -
PloS One 2024In this study, we propose a generative data augmentation technique to overcome the challenges of severely limited data when designing a deep learning-based automated...
In this study, we propose a generative data augmentation technique to overcome the challenges of severely limited data when designing a deep learning-based automated strabismus diagnosis system. We implement a generative model based on the StyleGAN2-ADA model for system design and assess strabismus classification performance using two classifiers. We evaluate the capability of our proposed method against traditional data augmentation techniques and confirm a substantial enhancement in performance. Furthermore, we conduct experiments to explore the relationship between the diagnosis agreement among ophthalmologists and the generation performance of the generative model. Beyond FID, we validate the generative samples on the classifier to establish their practicality. Through these experiments, we demonstrate that the generative model-based data augmentation improves overall quantitative performance in scenarios of extreme data scarcity and effectively mitigates overfitting issues during deep learning model training.
Topics: Humans; Deep Learning; Strabismus; Algorithms
PubMed: 38787813
DOI: 10.1371/journal.pone.0303355 -
The Journal of Laryngology and Otology Jun 2024Differential diagnosis of acute vertigo syndrome is challenging given the similarities between clinical presentations of posterior circulation stroke and peripheral...
BACKGROUND
Differential diagnosis of acute vertigo syndrome is challenging given the similarities between clinical presentations of posterior circulation stroke and peripheral vestibular dysfunction. The Head Impulse, Nystagmus, Test of Skew ('HINTS') assessment is a clinical bedside test used to aid diagnosis.
METHODS
Comprehensive training on use of the Head Impulse, Nystagmus, Test of Skew assessment was provided to one stroke consultant, and the effectiveness of the test in that setting was assessed. Further education was completed with more members of the stroke and emergency department multi-disciplinary team. Quality improvement measures including magnetic resonance imaging use and bed utilisation were explored.
RESULTS
Following training of one stroke consultant, the Head Impulse, Nystagmus, Test of Skew assessment was found to be a feasible, accurate bedside test within this acute stroke service. Further training for the multi-disciplinary team was completed, but outcome measures were not explored because of the coronavirus disease 2019 pandemic and maternity leave.
CONCLUSION
There is a role for trained members of the multi-disciplinary team to successfully use the Head Impulse, Nystagmus, Test of Skew assessment in hyperacute stroke settings, to aid diagnosis in acute vertigo syndrome.
Topics: Humans; Diagnosis, Differential; Stroke; Head Impulse Test; Vertigo; Nystagmus, Pathologic; COVID-19; Vestibular Function Tests; Syndrome; Vestibular Diseases
PubMed: 38779899
DOI: 10.1017/S0022215123002050