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Scientific Reports Jun 2024Accurate, and objective diagnosis of brain injury remains challenging. This study evaluated useability and reliability of computerized eye-tracker assessments (CEAs)...
Accurate, and objective diagnosis of brain injury remains challenging. This study evaluated useability and reliability of computerized eye-tracker assessments (CEAs) designed to assess oculomotor function, visual attention/processing, and selective attention in recent mild traumatic brain injury (mTBI), persistent post-concussion syndrome (PPCS), and controls. Tests included egocentric localisation, fixation-stability, smooth-pursuit, saccades, Stroop, and the vestibulo-ocular reflex (VOR). Thirty-five healthy adults performed the CEA battery twice to assess useability and test-retest reliability. In separate experiments, CEA data from 55 healthy, 20 mTBI, and 40 PPCS adults were used to train a machine learning model to categorize participants into control, mTBI, or PPCS classes. Intraclass correlation coefficients demonstrated moderate (ICC > .50) to excellent (ICC > .98) reliability (p < .05) and satisfactory CEA compliance. Machine learning modelling categorizing participants into groups of control, mTBI, and PPCS performed reasonably (balanced accuracy control: 0.83, mTBI: 0.66, and PPCS: 0.76, AUC-ROC: 0.82). Key outcomes were the VOR (gaze stability), fixation (vertical error), and pursuit (total error, vertical gain, and number of saccades). The CEA battery was reliable and able to differentiate healthy, mTBI, and PPCS patients reasonably well. While promising, the diagnostic model accuracy should be improved with a larger training dataset before use in clinical environments.
Topics: Humans; Adult; Male; Female; Eye-Tracking Technology; Brain Concussion; Machine Learning; Middle Aged; Young Adult; Eye Movements; Reproducibility of Results; Reflex, Vestibulo-Ocular; Post-Concussion Syndrome; Saccades; Attention
PubMed: 38830966
DOI: 10.1038/s41598-024-63540-8 -
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 -
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 -
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 -
Orphanet Journal of Rare Diseases May 2024Progressive supranuclear palsy (PSP) is a rare neurodegenerative brain disease with rapid progression and currently limited treatment options. A comprehensive... (Observational Study)
Observational Study
BACKGROUND
Progressive supranuclear palsy (PSP) is a rare neurodegenerative brain disease with rapid progression and currently limited treatment options. A comprehensive understanding of disease progression, management, and healthcare resource utilization is limited, and further research is challenging due to the small population of patients. To address these challenges in conducting PSP research, individuals with PSP were recruited using a multichannel approach tailored specifically to the PSP community. We performed a retrospective observational study using data abstracted from participant medical records collected from multiple patient care centers.
RESULTS
Seventy-two individuals with PSP were eligible for inclusion. On average, 144 medical documents per participant were collected from an average of 2.9 healthcare centers per participant, with a mean study period of 7.9 years. Among participants with a date of symptom onset documented in the medical records, the median time for the onset of the first fall was 2.0 years (IQR 3.2) before diagnosis, the median onset of unsteady gait or gait impairment was 1.2 years (IQR 1.8) before diagnosis, and the median onset of mobility problems was 0.8 years (IQR 1.8) before diagnosis. The most widely utilized healthcare resources, with at least 85% of participants using each of these resources at some point during the disease course, were medications (100%), imaging (99%), assistive devices (90%), supportive care (86%), and surgeries and procedures (85%).
CONCLUSIONS
This retrospective study adds to the current understanding of PSP symptoms, comorbidities, and healthcare resource utilization (HRU) across the disease journey. By involving individuals with PSP and their caregivers or legally authorized representatives in the research process, this study was unique in its approach to participant recruitment and enabled individuals to participate in research without the need for travel. We collected medical documents from multiple healthcare centers, allowing for broad data collection covering the entire disease journey. This approach to the collection of real-world data may be used to generate valuable insights into many aspects of disease progression and management in PSP and many other rare diseases.
Topics: Humans; Supranuclear Palsy, Progressive; Retrospective Studies; Female; Male; Aged; Disease Progression; Canada; Middle Aged; United States; Patient Acceptance of Health Care; Aged, 80 and over
PubMed: 38778404
DOI: 10.1186/s13023-024-03168-z -
The American Journal of Case Reports May 2024BACKGROUND Symptoms caused by developmental venous anomalies (DVAs) are usually mild and unspecific. Despite the benign nature of DVAs, they can occasionally be... (Review)
Review
BACKGROUND Symptoms caused by developmental venous anomalies (DVAs) are usually mild and unspecific. Despite the benign nature of DVAs, they can occasionally be symptomatic. CASE REPORT A 67-year-old woman presented with sudden diplopia and left eyelid ptosis for 10 days. A neurologic examination revealed left complete oculomotor nerve palsy. Other neurologic deficits, including eye pain or pulsatile tinnitus, were not detected. Furthermore, the visual acuity was normal. Additionally, no retinal hemorrhage, venous dilatation, or fundus tortuosity were observed. No ischemia lesions or neoplasms were observed in MRI, and no widening or enhancement of the cavernous sinus was detected in post-contrast T1-weighted images, but magnetic resonance tomography cerebral angiography (MRTA) detected an offending vessel compressing the left oculomotor nerve in the fossa interpeduncular. We hypothesized that oculomotor nerve palsy (ONP) was caused by an abnormal arterial structure. However, digital subtraction angiography (DSA) revealed no aneurysm or abnormal arterial structure in the arterial phase, while a tortuous and dilated collecting vein was detected in the venous phase, connecting the left temporal lobe to the left cavernous sinus. This indicated a typical caput medusae appearance, suggesting the mechanism of oculomotor palsy caused by compressive impairment of the DVA. The patient refused microvascular decompression surgery, and ONP persisted after 30 days. Management was conservative, with spontaneous resolution at 60 days and no recurrence during the 2-year follow-up. CONCLUSIONS ONP is rarely caused by DVAs, which are easily ignored due to their benign nature. Cerebral vein examinations are advised for patients exhibiting clinical symptoms of unknown etiology.
Topics: Humans; Female; Aged; Oculomotor Nerve Diseases; Cerebral Veins; Cerebral Angiography; Angiography, Digital Subtraction; Magnetic Resonance Angiography
PubMed: 38762752
DOI: 10.12659/AJCR.943363 -
Medicine May 2024This study was aimed to analyze ocular biometric changes following cycloplegia in pediatric patients with strabismus and amblyopia. Cycloplegia is routinely used to... (Observational Study)
Observational Study
This study was aimed to analyze ocular biometric changes following cycloplegia in pediatric patients with strabismus and amblyopia. Cycloplegia is routinely used to measure refractive error accurately by paralyzing accommodation. However, effects on axial length (AL), anterior chamber depth (ACD), keratometry (Km), and white-to-white distance (WTW) are not well studied in this population. This retrospective study examined 797 patients (1566 eyes) undergoing cycloplegic refraction at a Samsung Kangbuk hospital pediatric ophthalmology clinic from 2010 to 2023. Ocular biometry was measured before and after instilling 1% cyclopentolate and 0.5% phenylephrine/0.5% tropicamide. Patients were categorized by strabismus diagnosis, age, refractive error and amblyopia status. Differences in AL, ACD, Km, WTW, and refractive error pre- and post-cycloplegia were analyzed using paired t tests. ACD (3.44 ± 0.33 vs 3.58 ± 0.29 mm, P < .05) and WTW (12.09 ± 0.42 vs 12.30 ± 0.60 mm, P < .05) increased significantly after cycloplegia in all groups except other strabismus subgroup (Cs) in both parameters and youngest subgroup (G1) in ACD. Refractive error demonstrated a hyperopic shift from -0.48 ± 3.00 D to -0.06 ± 3.32 D (P < .05) in overall and a myopic shift from -6.97 ± 4.27 to -8.10 ± 2.26 in high myopia (HM). Also, AL and Km did not change significantly. In conclusion, cycloplegia impacts ocular biometrics in children with strabismus and amblyopia, significantly increasing ACD and WTW. Refractive error shifts hyperopically in esotropia subgroup (ET) and myopically in high myopia subgroup (HM), eldest subgroup (G3) relating more to anterior segment changes than AL/Km. Understanding cycloplegic effects on biometry is important for optimizing refractive correction in these patients.
Topics: Humans; Amblyopia; Strabismus; Retrospective Studies; Male; Female; Child; Biometry; Mydriatics; Child, Preschool; Refraction, Ocular; Cyclopentolate; Refractive Errors; Adolescent; Anterior Chamber; Axial Length, Eye
PubMed: 38758890
DOI: 10.1097/MD.0000000000038143