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Nature Medicine Jun 2024Minimally invasive biomarkers are urgently needed to detect molecular pathology in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Here, we show...
Minimally invasive biomarkers are urgently needed to detect molecular pathology in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Here, we show that plasma extracellular vesicles (EVs) contain quantifiable amounts of TDP-43 and full-length tau, which allow the quantification of 3-repeat (3R) and 4-repeat (4R) tau isoforms. Plasma EV TDP-43 levels and EV 3R/4R tau ratios were determined in a cohort of 704 patients, including 37 genetically and 31 neuropathologically proven cases. Diagnostic groups comprised patients with TDP-43 proteinopathy ALS, 4R tauopathy progressive supranuclear palsy, behavior variant FTD (bvFTD) as a group with either tau or TDP-43 pathology, and healthy controls. EV tau ratios were low in progressive supranuclear palsy and high in bvFTD with tau pathology. EV TDP-43 levels were high in ALS and in bvFTD with TDP-43 pathology. Both markers discriminated between the diagnostic groups with area under the curve values >0.9, and between TDP-43 and tau pathology in bvFTD. Both markers strongly correlated with neurodegeneration, and clinical and neuropsychological markers of disease severity. Findings were replicated in an independent validation cohort of 292 patients including 34 genetically confirmed cases. Taken together, the combination of EV TDP-43 levels and EV 3R/4R tau ratios may aid the molecular diagnosis of FTD, FTD spectrum disorders and ALS, providing a potential biomarker to monitor disease progression and target engagement in clinical trials.
Topics: Humans; Amyotrophic Lateral Sclerosis; tau Proteins; Extracellular Vesicles; Frontotemporal Dementia; Biomarkers; DNA-Binding Proteins; Female; Male; Aged; Middle Aged; Supranuclear Palsy, Progressive; Protein Isoforms
PubMed: 38890531
DOI: 10.1038/s41591-024-02937-4 -
Cureus May 2024Opsoclonus myoclonus syndrome (OMS) is a rare neurological disorder characterized by irregular, continuous, and chaotic eye saccades accompanied by myoclonus, defined by...
Opsoclonus myoclonus syndrome (OMS) is a rare neurological disorder characterized by irregular, continuous, and chaotic eye saccades accompanied by myoclonus, defined by brief, shock-like muscle spasms in the arms or legs. This syndrome often presents with additional features such as cerebellar syndrome, nycthemeral rhythm disorders, hallucinosis, and irritability-type behavioral disorders. In adults, OMS is predominantly paraneoplastic, necessitating screening for onconeural antibodies (ONA). While specific medications for OMS are lacking, addressing the underlying cause may ameliorate its clinical manifestations. The presence of opsoclonus-myoclonus should prompt urgent and thorough investigation for an underlying cancer, given its frequent association with paraneoplastic neurological syndrome (PNS). Here, we present the case of a 39-year-old patient with opsoclonus associated with cerebellar ataxia, revealing a breast neoplasm with positive anti-YO antibodies. Through the review of the literature, we discuss the epidemiological, clinical, diagnostic, and therapeutic aspects of this rare situation.
PubMed: 38883074
DOI: 10.7759/cureus.60452 -
Journal of the American Heart... Jun 2024This cohort study aims to examine the relationship between the occurrence of cranial nerve palsy (CNP) affecting the third, fourth, or sixth cranial nerve and the...
BACKGROUND
This cohort study aims to examine the relationship between the occurrence of cranial nerve palsy (CNP) affecting the third, fourth, or sixth cranial nerve and the subsequent risk of stroke, with a particular focus on the modulating effect of age on this association.
METHODS AND RESULTS
We established a cohort of individuals diagnosed with third, fourth, or sixth CNP who underwent national health screening within 2 years of diagnosis from 2010 to 2017. A control group was matched by sex and age at a ratio of 1:5. Participants were followed until December 31, 2019. We use multivariable Cox proportional hazards regression analyses to assess the association between ocular motor CNP and subsequent stroke stratified by age. Covariates including lifestyle, health behavior, underlying comorbidities, and Charlson comorbidity index score were also adjusted. Compared with the control group, the ocular motor CNP group had a higher risk of stroke after adjusting for potential confounders (hazard ratio [HR], 1.23 [95% CI,, 1.08-1.39]). The risk of stroke increased by 8.91 times in individuals with ocular motor CNP who were in their 30s (HR, 8.91 [95% CI, 1.63-48.66]). The risk increased by 2.49 times in those who were in their 40s, 1.78 times in those who were in their 50s, and 1.32 times in those who were in their 60s (HRs, 2.49, 1.78, and 1.32 [95% CI, 1.39-4.45, 1.31-2.42, and 1.08-1.62], respectively). However, for those who were in their 20s, 70s, or 80s, the incidence of stroke did not significantly increase.
CONCLUSIONS
Our study establishes an association between ocular motor CNP and an increased risk of stroke, particularly in young adults.
Topics: Humans; Male; Female; Middle Aged; Stroke; Adult; Risk Factors; Aged; Age Factors; Incidence; Oculomotor Nerve Diseases; Risk Assessment; Republic of Korea; Young Adult
PubMed: 38879451
DOI: 10.1161/JAHA.123.033437 -
Medicine Jun 2024Oculomotor nerve palsy (ONP) is often discovered in the ophthalmology department, manifested as ptosis with the same side, eyeball in the fixed external booth, or...
INTRODUCTION
Oculomotor nerve palsy (ONP) is often discovered in the ophthalmology department, manifested as ptosis with the same side, eyeball in the fixed external booth, or accompanied by limited inward, upward, and downward movements. The present case report described the effect of electroacupuncture (EA) on a breast cancer patient with ONP after chemotherapy.
PATIENT CONCERNS
A 56-year-old breast cancer patient presented with severe ptosis and fixed right eye exotropia. Besides, it is challenging to perform the movement inward, upward, and downward, and with obvious diplopia.
DIAGNOSES
The breast cancer patient was diagnosed with ONP, chemotherapy history.
INTERVENTIONS
The patient was introduced to acupuncture department to receiving EA treatment.
OUTCOMES
After 12 times of EA treatments, the symptom of ptosis was significantly improved, and the right upper eyelid can lift autonomously as same as the left eye. Besides, the patient's right lateral eye could move freely, and the symptoms of double vision disappeared.
CONCLUSION
The case suggests that EA may be an effective alternative treatment for ONP.
Topics: Humans; Female; Middle Aged; Electroacupuncture; Oculomotor Nerve Diseases; Breast Neoplasms; Blepharoptosis; Antineoplastic Agents
PubMed: 38875429
DOI: 10.1097/MD.0000000000038547 -
BMC Ophthalmology Jun 2024The long-term visual outcomes in spasmus nutans patients is largely unknown. The purpose of this study was to characterize visual outcomes and identify comorbid...
BACKGROUND
The long-term visual outcomes in spasmus nutans patients is largely unknown. The purpose of this study was to characterize visual outcomes and identify comorbid ophthalmic conditions in patients with spasmus nutans.
METHODS
We retrospectively reviewed the charts of consecutive patients diagnosed with spasmus nutans between 2000 and 2020. Demographic information, ophthalmic characteristics, and neuroimaging results were assessed over time.
RESULTS
Of the 32 patients included in the study, 13 (41%) were female. Underlying medical conditions included a diagnosis of Trisomy 21 in 6 (19%) and prematurity in 8 (25%). Twenty-one patients (66%) self-reported as a race other than Caucasian. 18 patients (56%) had non-private health insurance and 1 (3%) was uninsured. Mean age at diagnosis and resolution were 16 months (range 45 months) and 48 months (range 114 months), respectively. All 32 patients had nystagmus, 31 (97%) had head nodding and 16 (50%) had ocular torticollis. Mean follow-up was 66 months (range 185 months). On initial presentation, 6/32 (19%) had an amblyogenic refractive error and mean best-corrected visual acuity (BCVA) in the better-seeing eye was 0.78 Logarithm of the Minimum Angle of Resolution (LogMAR) (range 1.24). In a sub-analysis that included patients with > 1 exam (n = 23), 17/20 (85%) had an amblyogenic refractive error and mean BCVA in the better-seeing eye was 0.48 LogMAR (range 1.70). At the final exam, 12 patients had measurable stereopsis, eight had strabismus, and three had undergone strabismus surgery. Eight patients required treatment for amblyopia.
CONCLUSIONS
We found a high prevalence of amblyogenic refractive error, strabismus and amblyopia among patients with spasmus nutans. Children with spasmus nutans benefit from ongoing ophthalmic follow-up until they are past the amblyopic age range, even after resolution of nystagmus.
Topics: Humans; Female; Male; Retrospective Studies; Visual Acuity; Child, Preschool; Child; Infant; Follow-Up Studies; Nystagmus, Pathologic; Amblyopia; Strabismus
PubMed: 38867186
DOI: 10.1186/s12886-024-03494-7 -
BMC Ophthalmology Jun 2024To evaluate the clinical findings of patients with SOP who underwent surgery.
BACKGROUND
To evaluate the clinical findings of patients with SOP who underwent surgery.
METHODS
This historical cohort study was performed on 1057 SOP patients managed with surgery in Farabi Hospital, Iran, from 2011 to 2022.
RESULTS
There were 990 (93.7%) patients with unilateral SOP with the mean age of 21.8 ± 14.8 years. Of these, 715 patients (72.2%) were diagnosed with congenital SOP, and 275 patients (27.8%) had acquired SOP (P < 0.001). In contrast, 67 (6.3%) patients were diagnosed with bilateral SOP, with the mean age of 19.4 ± 15.6 years. Among these, 18 cases exhibited the masked type. The mean angle of vertical deviation in primary position at far in unilateral and bilateral cases was 15.6 ± 8.3 and 13.3 ± 9.1 △, respectively (P < 0.001). In unilateral cases, abnormal head posture (AHP) was detected in 847 (85.5%) patients and 12 (1.2%) had paradoxical AHP. Amblyopia was found in 89 (9.9%) unilateral and 7 (10.3%) bilateral cases. Solitary inferior oblique myectomy, was the most common surgery in both unilateral (n = 756, 77.1%) and bilateral (n = 35, 52.2%) patients. The second surgery was performed for 84 (8.6%) unilateral and 33 (49.3%) bilateral cases (P < 0.001). The prevalence of amblyopia and the mean angle of horizontal deviation were significantly higher in patients who needed more than one surgery (all P < 0.05).
CONCLUSION
Congenital SOP was more than twice as frequent as acquired SOP and about 90% of unilateral and 50% of bilateral cases were managed with one surgery. Amblyopia and significant horizontal deviation were the most important factors for reoperation.
TRIAL REGISTRATION
The Institutional Review Board approval was obtained from the Tehran University of Medical Sciences (IR.TUMS.FNM.REC.1400.012) and this study adhered to the tenets of the Declaration of Helsinki and HIPAA.
Topics: Humans; Male; Female; Retrospective Studies; Adult; Oculomotor Muscles; Young Adult; Adolescent; Middle Aged; Child; Ophthalmologic Surgical Procedures; Child, Preschool; Trochlear Nerve Diseases; Iran; Aged; Strabismus; Vision, Binocular; Treatment Outcome; Infant
PubMed: 38867149
DOI: 10.1186/s12886-024-03514-6 -
BMC Ophthalmology Jun 2024Refractive errors, amblyopia, strabismus, and low vision are more common among children with hearing impairments in comparison with their hearing peers. Neglecting...
BACKGROUND AND AIM
Refractive errors, amblyopia, strabismus, and low vision are more common among children with hearing impairments in comparison with their hearing peers. Neglecting visual disorders can pose educational and social problems for these children. The present study aimed to assess the prevalence of refractive errors, amblyopia, strabismus, and low vision among hearing-impaired and deaf students in Kermanshah.
MATERIALS AND METHODS
A total of 79 deaf and hearing impaired students within the age range of 7-20 years (mean age of 15.01 ± 2.72) underwent optometric examinations, including autorefractometry, retinoscopy, ophthalmoscopy, slit lamp, visual acuity measurement, and cover-uncover test. Those who needed further evaluation were referred to the Ophthalmology Clinic of Imam Khomeini Hospital.
RESULTS
Regarding the prevalence of refractive errors, 32 (40.5%) subjects had one or a combination of refractive errors, the most common of which was astigmatism (36.7%), followed by amblyopia (15.1%). The most common type of strabismus was latent strabismus (heterophoria) (88.6%), followed by exophoria (81%). Moreover, 3 (3.7%) cases had nystagmus. A significant difference was observed between the prevalence of amblyopia and the degree of hearing loss (P = 0.026), and no significant difference was detected in other cases.
CONCLUSION
As evidenced by the obtained results, refractive errors, amblyopia, strabismus, and low vision are more prevalent among deaf and hearing-impaired children compared to normal children because deaf and hearing-impaired children are not able to convey their vision problems and need to compensate for their poor hearing with an enhanced sense of sight, inattention to these disorders can present these children with serious educational and social problems. Therefore, eye screening examinations are of paramount importance in deaf and hearing-impaired children.
Topics: Humans; Strabismus; Child; Adolescent; Male; Female; Refractive Errors; Vision, Low; Amblyopia; Prevalence; Young Adult; Visual Acuity; Iran; Cross-Sectional Studies; Persons With Hearing Impairments; Deafness; Students
PubMed: 38867144
DOI: 10.1186/s12886-024-03515-5 -
The Pan African Medical Journal 2024Guillain-Barré syndrome/Miller-Fisher syndrome (GBS/MFS) overlap syndrome is an extremely rare variant of Guillain-Barré syndrome (GBS) in which Miller-Fisher syndrome...
Guillain-Barré syndrome/Miller-Fisher syndrome (GBS/MFS) overlap syndrome is an extremely rare variant of Guillain-Barré syndrome (GBS) in which Miller-Fisher syndrome (MFS) coexists with other characteristics of GBS, such as limb weakness, paresthesia, and facial paralysis. We report the clinical case of a 12-year-old patient, with no pathological history, who acutely presents with ophthalmoplegia, areflexia, facial diplegia, and swallowing and phonation disorders, followed by progressive, descending, and symmetrical paresis affecting first the upper limbs and then the lower limbs. An albuminocytological dissociation was found in the cerebrospinal fluid study. Magnetic resonance imaging of the spinal cord showed enhancement and thickening of the cauda equina roots. The patient was treated with immunoglobulins with a favorable clinical outcome.
Topics: Humans; Miller Fisher Syndrome; Guillain-Barre Syndrome; Child; Magnetic Resonance Imaging; Male; Immunoglobulins; Treatment Outcome
PubMed: 38854867
DOI: 10.11604/pamj.2024.47.127.42985 -
BMC Ophthalmology Jun 2024Learning to perform strabismus surgery is an essential aspect of ophthalmologists' surgical training. Automated classification strategy for surgical steps can improve...
BACKGROUND
Learning to perform strabismus surgery is an essential aspect of ophthalmologists' surgical training. Automated classification strategy for surgical steps can improve the effectiveness of training curricula and the efficient evaluation of residents' performance. To this end, we aimed to develop and validate a deep learning (DL) model for automated detecting strabismus surgery steps in the videos.
METHODS
In this study, we gathered 479 strabismus surgery videos from Shanghai Children's Hospital, affiliated to Shanghai Jiao Tong University School of Medicine, spanning July 2017 to October 2021. The videos were manually cut into 3345 clips of the eight strabismus surgical steps based on the International Council of Ophthalmology's Ophthalmology Surgical Competency Assessment Rubrics (ICO-OSCAR: strabismus). The videos dataset was randomly split by eye-level into a training (60%), validation (20%) and testing dataset (20%). We evaluated two hybrid DL algorithms: a Recurrent Neural Network (RNN) based and a Transformer-based model. The evaluation metrics included: accuracy, area under the receiver operating characteristic curve, precision, recall and F1-score.
RESULTS
DL models identified the steps in video clips of strabismus surgery achieved macro-average AUC of 1.00 (95% CI 1.00-1.00) with Transformer-based model and 0.98 (95% CI 0.97-1.00) with RNN-based model, respectively. The Transformer-based model yielded a higher accuracy compared with RNN-based models (0.96 vs. 0.83, p < 0.001). In detecting different steps of strabismus surgery, the predictive ability of the Transformer-based model was better than that of the RNN. Precision ranged between 0.90 and 1 for the Transformer-based model and 0.75 to 0.94 for the RNN-based model. The f1-score ranged between 0.93 and 1 for the Transformer-based model and 0.78 to 0.92 for the RNN-based model.
CONCLUSION
The DL models can automate identify video steps of strabismus surgery with high accuracy and Transformer-based algorithms show excellent performance when modeling spatiotemporal features of video frames.
Topics: Deep Learning; Humans; Strabismus; Ophthalmologic Surgical Procedures; Video Recording; Oculomotor Muscles; Ophthalmology; ROC Curve; Clinical Competence; Neural Networks, Computer; Algorithms; Internship and Residency; Education, Medical, Graduate
PubMed: 38853240
DOI: 10.1186/s12886-024-03504-8 -
BMC Ophthalmology Jun 2024Functional visual impairments in children are primarily caused by amblyopia or strabismus. This study aimed to determine the prevalence and clinical profile of amblyopia...
BACKGROUND
Functional visual impairments in children are primarily caused by amblyopia or strabismus. This study aimed to determine the prevalence and clinical profile of amblyopia and strabismus among individuals aged 3-16 years in Shanghai, China.
METHODS
From February 2023 to February 2024, this hospital-based, cross-sectional study included data of children who visited the Ophthalmology Department of Shanghai General Hospital. Comprehensive ocular examinations included visual acuity measurement after cycloplegic refraction, slit lamp examination, cover test, and dilated fundus examination. Descriptive statistics were performed to estimate the proportion and clinical characteristics of amblyopia and strabismus.
RESULTS
A total of 920 children were enrolled in our study. Among them, 223 (24.24%) children were identified as amblyopia. Unilateral amblyopia occupied 57.85%, and bilateral amblyopia occupied 42.15%. Most participants were within the age range of 5-10 years (75.97% for unilateral amblyopia, and 70.21% for bilateral amblyopia). Anisometropia was the primary cause of unilateral amblyopia (68.99%). Most amblyopic children have high hyperopia (38.76% for unilateral amblyopia, and 39.89% for bilateral amblyopia). 30 (3.26%) children were diagnosed with strabismus, and 19 (63.3%) of them were aged 5-10 years. Seven of the children had both strabismus and amblyopia.
CONCLUSION
The proportion of patients with amblyopia and strabismus was determined as 24.24% and 3.26% in our study. Anisometropia was the leading cause of unilateral amblyopia, whereas high hyperopia was a crucial refractive error in the amblyopic population. These findings shed light on further longitudinal studies targeting the age-related changes in amblyopia, strabismus and refraction errors. Therefore, efforts should be made to manage uncorrected refractive errors, amblyopia, and strabismus among children in Shanghai.
Topics: Humans; Amblyopia; China; Prevalence; Cross-Sectional Studies; Child; Child, Preschool; Adolescent; Female; Male; Strabismus; Refractive Errors; Visual Acuity; Age Distribution; Refraction, Ocular
PubMed: 38849757
DOI: 10.1186/s12886-024-03477-8