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Genes May 2024Tunicate orthologs in the human genome comprise just 84 genes of the 19,872 protein-coding genes and 23 of the 16,528 non-coding genes, yet they stand at the base of the... (Review)
Review
Tunicate orthologs in the human genome comprise just 84 genes of the 19,872 protein-coding genes and 23 of the 16,528 non-coding genes, yet they stand at the base of the Olfactores clade, which radiated to generate thousands of tunicate and vertebrate species. What were the powerful drivers among these genes that enabled this process? Many of these orthologs are present in gene families. We discuss the biological role of each family and the orthologs' quantitative contribution to the family. Most important was the evolution of a second type of cadherin. This, a Type II cadherin, had the property of detaching the cell containing that cadherin from cells that expressed the Type I class. The set of such Type II cadherins could now detach and move away from their Type I neighbours, a process which would eventually evolve into the formation of the neural crest, "the fourth germ layer", providing a wide range of possibilities for further evolutionary invention. A second important contribution were key additions to the broad development of the muscle and nerve protein and visual perception toolkits. These developments in mobility and vision provided the basis for the development of the efficient predatory capabilities of the Vertebrata.
Topics: Animals; Humans; Evolution, Molecular; Urochordata; Cadherins; Phylogeny
PubMed: 38927593
DOI: 10.3390/genes15060657 -
Behavioral and Brain Functions : BBF Jun 2024An intronic deletion within intron 2 of the DCDC2 gene encompassing the entire READ1 (hereafter, READ1d) has been associated in both children with developmental dyslexia...
BACKGROUND
An intronic deletion within intron 2 of the DCDC2 gene encompassing the entire READ1 (hereafter, READ1d) has been associated in both children with developmental dyslexia (DD) and typical readers (TRs), with interindividual variation in reading performance and motion perception as well as with structural and functional brain alterations. Visual motion perception -- specifically processed by the magnocellular (M) stream -- has been reported to be a solid and reliable endophenotype of DD. Hence, we predicted that READ1d should affect neural activations in brain regions sensitive to M stream demands as reading proficiency changes.
METHODS
We investigated neural activations during two M-eliciting fMRI visual tasks (full-field sinusoidal gratings controlled for spatial and temporal frequencies and luminance contrast, and sensitivity to motion coherence at 6%, 15% and 40% dot coherence levels) in four subject groups: children with DD with/without READ1d, and TRs with/without READ1d.
RESULTS
At the Bonferroni-corrected level of significance, reading skills showed a significant effect in the right polar frontal cortex during the full-field sinusoidal gratings-M task. Regardless of the presence/absence of the READ1d, subjects with poor reading proficiency showed hyperactivation in this region of interest (ROI) compared to subjects with better reading scores. Moreover, a significant interaction was found between READ1d and reading performance in the left frontal opercular area 4 during the 15% coherent motion sensitivity task. Among subjects with poor reading performance, neural activation in this ROI during this specific task was higher for subjects without READ1d than for READ1d carriers. The difference vanished as reading skills increased.
CONCLUSIONS
Our findings showed a READ1d-moderated genetic vulnerability to alterations in neural activation in the ventral attentive and salient networks during the processing of relevant stimuli in subjects with poor reading proficiency.
Topics: Humans; Dyslexia; Male; Child; Female; Magnetic Resonance Imaging; Parietal Lobe; Reading; Motion Perception; Frontal Lobe; Microtubule-Associated Proteins; Brain Mapping; Nerve Net; Photic Stimulation
PubMed: 38926731
DOI: 10.1186/s12993-024-00241-2 -
Scientific Reports Jun 2024To compare the efficacy and safety of the proposed aflibercept biosimilar SCD411 and reference aflibercept in patients with neovascular age-related macular degeneration,... (Randomized Controlled Trial)
Randomized Controlled Trial Comparative Study
To compare the efficacy and safety of the proposed aflibercept biosimilar SCD411 and reference aflibercept in patients with neovascular age-related macular degeneration, this randomized, double-masked, parallel-group, multicenter study was conducted in 14 countries from 13 August 2020 to 8 September 2022. Patients with neovascular age-related macular degeneration. With subfoveal, juxtafoveal, or extrafoveal choroidal neovascularization were aged 50 years or older. Intravitreal injection of SCD411 or aflibercept (2.0 mg) were administered every 4 weeks for the first three injections and every 8 weeks until week 48. The primary efficacy endpoint was the change in best-corrected visual acuity from baseline to week 8 with an adjusted equivalence margin of ± 3.0 letters. Patients were randomly assigned to receive either SCD411 (n = 288) or reference aflibercept (n = 288). A total of 566 participants (98.3%) completed week 8 of the study. The least-squares mean difference of change in best-corrected visual acuity from baseline to week 8 (SCD411-aflibercept) was - 0.4 letters (90% confidence interval = - 1.6 to 0.9). The incidence of ocular (69 of 287 [24.0%] vs. 71 of 286 [24.8%]) and serious ocular (5 of 287 [1.7%] vs. 3 of 286 [1.0%]) treatment-emergent adverse effects were similar between the SCD411 and aflibercept groups. Immunogenicity analysis revealed a low incidence of neutralizing antibody formation in both groups. In conclusion, SCD411 has equivalent efficacy compared with reference aflibercept in patients with neovascular age-related macular degeneration and has a comparable safety profile. The results support the potential use of SCD411 for the treatment of neovascular age-related macular degeneration.
Topics: Humans; Receptors, Vascular Endothelial Growth Factor; Recombinant Fusion Proteins; Male; Female; Aged; Visual Acuity; Intravitreal Injections; Treatment Outcome; Macular Degeneration; Middle Aged; Double-Blind Method; Aged, 80 and over; Choroidal Neovascularization; Biosimilar Pharmaceuticals; Angiogenesis Inhibitors
PubMed: 38926553
DOI: 10.1038/s41598-024-65815-6 -
Attention, Perception & Psychophysics Jun 2024Attention has a significant effect on time perception, as a person's perception of duration varies depending on the object of one's attention, even when the visual...
Attention has a significant effect on time perception, as a person's perception of duration varies depending on the object of one's attention, even when the visual stimulus is consistent. This study aimed to identify the effects of directing participants' attention after a stimulus has disappeared on time perception, as prior studies have examined only pre-stimulus direction. The stimulus used comprised two overlapping figures - one large and one small. After the stimulus was removed, participants were asked to judge the length of the presentation time and shape of one of the two figures. Consequently, the participants perceived a longer presentation duration when their attention was directed to a large figure than when directed to a small figure. This finding suggests that even after an event has occurred, the time perception of the event changes depending on the feature receiving one's attention.
PubMed: 38926217
DOI: 10.3758/s13414-024-02918-2 -
International Ophthalmology Jun 2024The aim of this study was to evaluate the lamina cribrosa curvature index in different types of glaucoma in comparison with clinical findings and conventional...
OBJECTIVE
The aim of this study was to evaluate the lamina cribrosa curvature index in different types of glaucoma in comparison with clinical findings and conventional measurement methods.
MATERIAL AND METHOD
Patients older than 18 years who were followed up in Glaucoma Unit of Department of Ophthalmology at Fırat University Faculty of Medicine, whose disease had been under control at least for 1 year, who had at least three reliable visual fields, whose refractive error was between - 6 and + 5 diopter and who did not have any disease other than glaucoma that would affect the visual field, were included in the study. Clinical and demographic characteristics, visual field, optical coherence tomography and lamina cribrosa curvature index (LCCI) results were evaluated. The study patients were divided into six groups: early-stage primary open-angle glaucoma (POAG) as group 1 and intermediate-advanced stage POAG as group 2, pseudo-exfoliation glaucoma (PEXG) as group 3, normal tension glaucoma (NTG) as group 4, ocular hypertension patients whom subsequently developed POAG as group 5 and healthy control as group 6.
RESULTS
A total of 189 eyes of 101 patients were included in our study. Forty-seven patients were male (46.5%) and 54 were female (53.5%). The mean age was 62.43 ± 1.49 years. LCCI, mean deviation (MD), visual field index (VFI), pattern standard deviation (PSD) and retinal nerve fiber layer thickness (RNFL) values were analyzed in all groups and Pearson correlation analysis showed statistically significant correlation between PSD and RNFL measurements with LCCI values in all groups. MD value was correlated with LCCI in groups 2, 3 and 4, while VFI value was correlated with LCCI in all groups except group 5. When the groups were compared with each other according to the Post-Hoc Tamhane test, LCCI measurement showed statistically significant results in accordance with MD, VFI, PSD and RNFL values.
CONCLUSION
The LCCI assessment is mostly consistent with conventional tests. In this study, in which different types of glaucoma and healthy subjects were examined simultaneously, LCCI shows promise as a detailed and reliable assessment method.
Topics: Humans; Male; Female; Tomography, Optical Coherence; Middle Aged; Visual Fields; Optic Disk; Intraocular Pressure; Aged; Glaucoma, Open-Angle; Retinal Ganglion Cells; Nerve Fibers; Adult; Follow-Up Studies; Glaucoma
PubMed: 38926206
DOI: 10.1007/s10792-024-03190-x -
Ceska a Slovenska Oftalmologie :... 2024The main aim of this study is to evaluate the anatomical and functional results of pars plana vitrectomy (PPV) with peeling of the internal limiting membrane (ILM),...
AIM
The main aim of this study is to evaluate the anatomical and functional results of pars plana vitrectomy (PPV) with peeling of the internal limiting membrane (ILM), membrane blue staining and subsequent expansile gas tamponade (perfluoropropane) in the treatment of idiopathic macular hole (IMH).
MATERIAL AND METHODS
The retrospective analysis consisted of 100 eyes of a total of 100 patients (61 women and 39 men) with IMH, operated on at the Department of Ophthalmology of the Slovak Medical University and University Hospital Bratislava from 1 January 2021 to 1 January 2024, using 25-gauge PPV with ILM peeling and perfluoropropane tamponade (C3F8) of 15% concentration. After surgery, the patients were required to remain in a face-down position for at least one week. Best corrected visual acuity (BCVA), minimal linear diameter (MLD) on optic coherence tomography, macular hole closure type and occurrence of complications were evaluated. The obtained results were expressed with the use of arithmetic averages and displayed in graphs.
RESULTS
Primary closure of macular hole was achieved in 93 patients (93%). The most frequently occurring type of closure was 1A. After surgery, the BCVA of all patients improved, from an average value of 0.101 preoperatively to 0.300 one year after surgery. In all groups of patients (regardless of the size of the macular hole before surgery), during the one-year follow-up period there was a gradual increase in BCVA with its stabilization by 6 months. The main factors that influenced postoperative BCVA were the preoperative values of MLD and BCVA.
CONCLUSION
PPV with ILM peeling and perfluoropropane tamponade is an effective treatment for idiopathic macular holes with a success rate of more than 90%. This surgical procedure, associated with a relatively low number of complications, brings patients a definite improvement of BCVA.
Topics: Humans; Vitrectomy; Retinal Perforations; Female; Male; Retrospective Studies; Middle Aged; Aged; Fluorocarbons; Visual Acuity; Treatment Outcome
PubMed: 38925904
DOI: 10.31348/2024/20 -
Ceska a Slovenska Oftalmologie :... 2024This retrospective clinical study evaluates the results of surgical treatment of patients diagnosed with intermittent exotropia of the divergence excess type. The study...
AIM
This retrospective clinical study evaluates the results of surgical treatment of patients diagnosed with intermittent exotropia of the divergence excess type. The study compares the results of surgery delayed due to the Covid-19 pandemic (patients underwent the surgery after the age of eight), versus a group of younger children.
MATERIALS AND METHODS
The objective angle of deviation and quality of binocular functions were examined. The follow-up period was six months after surgery. The patients were divided into two groups according to age: 4-7 years and 8-13 years. Each group included 20 patients. The second group comprised patients whose surgery was postponed due to restrictions on elective surgery during the ongoing pandemic. The surgery took place at the University Hospital in Pilsen. Angle of deviation and binocular functions were examined before surgery, postoperatively, and three and six months after surgery. Data were collected retrospectively and statistically processed. The main values were plotted in charts.
RESULTS
Accordance between the angle of deviation before surgery in both groups was statistically demonstrated. During the six-month follow-up period, the median angle of deviation was statistically without proof of disparity between the groups. Six months after surgery, an objective angle of deviation within the limit ±5 degrees was achieved in 65% of patients from the first group and in 75% from the second group. Binocular vision before surgery was statistically without proof of difference between both groups. However the statistical processing demonstrated a difference between the two groups six months after the surgery. Better binocular functions were achieved by the younger children in the first group.
CONCLUSION
The objective deviation angle was comparable in both study groups prior to surgery as well as six months after the surgery. The first group of younger patients attained a higher quality of binocular functions within the six-month follow-up period compared to children operated on after the age of eight. This claim was statistically verified.
Topics: Humans; Child; Exotropia; Retrospective Studies; Child, Preschool; Adolescent; Male; Female; Ophthalmologic Surgical Procedures; COVID-19; Vision, Binocular
PubMed: 38925902
DOI: 10.31348/2024/19 -
Ceska a Slovenska Oftalmologie :... 2024The authors present a case of a thirty-eight-year-old patient with Alport syndrome. The patient had several ocular symptoms of the disease and has been treated for...
The authors present a case of a thirty-eight-year-old patient with Alport syndrome. The patient had several ocular symptoms of the disease and has been treated for systemic problems in connection with Alport syndrome since he was fifteen years old. At that age the patient also underwent a kidney transplant in order to deal with renal insufficiency. To date, he still uses immunosuppressants and antihypertensives. Furthermore, the patient suffers from perceptive deafness. The patient visited our clinic in 2021 with a request to solve his high refractive error, in which the diopters were so high that it was not possible to place them in spectacles. The patient's best corrected visual acuity was 0.6 with -8.0sph/-4.0cyl/ax15 in the right eye and 0.7partim with -8.0sph/-4.0cyl/ax155 in the left eye. The autorefractometer values were -6.25sph/-6.75cyl/ax17 in the right eye and -6.75sph/-6.5cyl/ax155 in the left eye. During the eye examination we found a number of ocular manifestations that are typical of Alport syndrome. On the cornea there were opacities as a residue of corneal erosions, and at one of the following check-ups we also found a newly developed corneal erosion. Subsequently, we found an anterior lenticonus and incipient cataract. Upon performing OCT, a typical temporal macular atrophy was evident. Fundus examination in artificial mydriasis showed just a minimal manifestation of fleck retinopathy. Due to the clinical manifestation we decided to perform cataract surgery and implant a monofocal toric intraocular lens in both eyes. There were no complications during the operations, however the surgeon registered a non-standard structure of the lens capsule. The capsule was more fragile, and performing capsulorhexis was much more complicated. A week after the surgery, higher cylinder diopters were still present. A decrease of the higher diopters was noticeable one month after surgery. The time interval between the first operation and the second operation was one month. The patient was highly satisfied with result, and uncorrected visual acuity improved by over four lines. After surgery the patient needed low diopters for near as well as far distance. In the case of this patient, the ocular manifestations were detected and treated in adulthood. Nevertheless, early detection of ocular symptoms of Alport syndrome in young patients before renal failure could lead to timely start of the treatment and delay a possible renal transplant. In case of any suspicion of Alport syndrome it is advised to send the patient to a pediatrician, and at an older age to an internal medicine specialist, for further examination.
Topics: Humans; Nephritis, Hereditary; Male; Adult; Refractive Surgical Procedures; Visual Acuity
PubMed: 38925900
DOI: 10.31348/2024/28 -
Ceska a Slovenska Oftalmologie :... 2024The aim of this study was to evaluate the outcomes of Ozurdex® (DEX) implant in patients with diabetic macular edema (DME) in real-world clinical practice, and to...
OBJECTIVE
The aim of this study was to evaluate the outcomes of Ozurdex® (DEX) implant in patients with diabetic macular edema (DME) in real-world clinical practice, and to determine the correlation between known OCT biomarkers and the effect of treatment.
MATERIAL AND METHODS
This retrospective study included 42 eyes of 33 patients (16 women, 17 men) treated with DEX at the Department of Ophthalmology, Faculty of Medicine and Dentistry of Palacký University and University Hospital Olomouc for DME indication between 2020 and 2023. Follow-up examinations were conducted at 1, 3, and 6 months after the first DEX application. The main assessed parameters were: best-corrected visual acuity (BCVA), intraocular pressure (IOP), central retinal thickness (CRT), OCT biomarkers. The results were subsequently statistically evaluated.
RESULTS
At the first follow-up after DEX application, there was an average decrease in CRT of 186 ±146µm and a gain of 3 ±7 letters. Positive morphological and functional responses were observed in 39 eyes (92.9%) and 23 eyes (54.8%) respectively. The disorganization of retinal inner layers (DRIL) biomarker was initially present in 41 eyes (97.6%), with reduction or disappearance observed in 13 eyes (31%) post-application. Eyes with ellipsoid zone disruption (EZ disruption) had an average initial BCVA of 49.6 letters, compared to 57.8 letters in the group without this biomarker. The mean gain in BCVA was +8.7 letters in treatment-naive eyes and +2.1 letters in previously treated eyes. Chronic DME was less frequent in treatment-naive (n = 1, 14.3%) compared to previously treated eyes (n = 28, 84.8%). All these results were statistically significant (p < 0.05). An increase in IOP post-DEX application occurred in 9 patients (21.4%).
CONCLUSION
Our results confirm DEX as a safe and effective treatment option for DME. Treatment-naive patients achieved better functional outcomes. We confirmed ellipsoid zone disruption (EZ disruption) as a negative biomarker. Additionally, we demonstrated the capacity of DEX to reduce disorganization of the retinal inner layers (DRIL).
Topics: Humans; Macular Edema; Male; Female; Diabetic Retinopathy; Dexamethasone; Retrospective Studies; Middle Aged; Aged; Intravitreal Injections; Drug Implants; Visual Acuity; Glucocorticoids; Tomography, Optical Coherence
PubMed: 38925895
DOI: 10.31348/2024/29 -
Ceska a Slovenska Oftalmologie :... 2024To compare functional and anatomical outcomes between the inverted flap technique and conventional removal of the internal limiting membrane (ILM) in the surgical...
AIM
To compare functional and anatomical outcomes between the inverted flap technique and conventional removal of the internal limiting membrane (ILM) in the surgical management of idiopathic macular hole (IMH).
MATERIAL AND METHODS
We retrospectively evaluated the anatomical and functional results in 67 eyes of 65 patients operated on for IMH. The patients were operated on either using the conventional ILM peeling technique (first group) or with the inverted ILM flap technique (second group). 43 eyes of 41 patients were included in the first group, 24 eyes of 24 patients in the second group. We indicated for surgery only patients with IMH stage 2-4 according to the Gasse classification. Best corrected visual acuity (VA) was always determined before and two months after surgery. Furthermore, a comparison of both techniques was made according to the average letter gain after surgery, and the effect of surgery was evaluated using OCT with regard to whether IMH closure succeeded. For both techniques, 25G PPV with SF6 tamponade was performed.
RESULTS
Hole closure took place in 41 eyes with conventional ILM removal. In one eye, the hole did not close even after reoperation with the same technique. Median ETDRS letter gain was 7.0. VA remained the same in 2 eyes (4.7%), worsened in 7 cases (16.2%), and improved in all other cases (79.0%). In 16 eyes (37.2%), VA improved by 2 or more lines of ETDRS charts. Using the inverted flap technique, the hole was closed in all 24 monitored eyes. Median ETDRS letter gain was 9.5. VA remained the same in 2 eyes (8.3%), worsened in 2 cases (8.3%), and improved in all other cases (83.3%). In 12 eyes (50.0%), VA improved by 2 or more lines of ETDRS charts. There were no serious complications intraoperatively or postoperatively.
CONCLUSION
Our study demonstrated the safety and efficacy of both methods. Although the results were not statistically significant, the inverted flap technique recorded a greater ETDRS letter gain (9.5 vs. 7.0) and proportion of closed holes (100% vs. 95.3%) compared to the conventional ILM peeling technique in our set of eyes.
Topics: Humans; Surgical Flaps; Retrospective Studies; Retinal Perforations; Visual Acuity; Vitrectomy; Female; Male; Middle Aged; Aged
PubMed: 38925893
DOI: 10.31348/2024/31