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Turkish Journal of Ophthalmology Jun 2024Yasunari nodules are choroidal lesions observed in patients diagnosed with neurofibromatosis type 1 (NF-1) and characterized by relatively irregular dome-shaped,...
OBJECTIVES
Yasunari nodules are choroidal lesions observed in patients diagnosed with neurofibromatosis type 1 (NF-1) and characterized by relatively irregular dome-shaped, plaque-like, or patchy boundaries. The present study examines the multimodal imaging characteristics of Yasunari nodules and their value in the diagnosis of NF-1.
MATERIALS AND METHODS
Medical records including optical coherence tomography (OCT), enhanced depth imaging OCT, infrared reflectance (IR) imaging, OCT angiography, and color fundus images of NF-1 patients who were examined at the Department of Ophthalmology in Dokuz Eylül University Faculty of Medicine between January 2022 and December 2023 were retrospectively reviewed for the presence of Yasunari nodules.
RESULTS
A total of 54 eyes of 27 patients were included in the study. At least one choroidal nodule was detected on IR imaging in 52 eyes (96.3%). In 31 (72.1%) of the 43 eyes (79.6%) with available high-quality OCT angiography images, choroidal nodules were observed as areas showing a flow deficit in the choriocapillaris layer. Of the total 54 eyes included, Lisch nodules without choroidal nodules were observed in 2 eyes (3.7%). In 16 eyes (29.6%), Lisch nodules were not detected despite the presence of choroidal nodules. Both Lisch nodules and choroidal nodules were detected in the other 36 eyes (66.7%).
CONCLUSION
Yasunari nodules are frequently observed in NF-1 cases and can be easily detected with multimodal imaging techniques, especially IR imaging. The ability to visualize choroidal nodules before the appearance of Lisch nodules demonstrates the importance of Yasunari nodules in the diagnosis of NF-1.
Topics: Humans; Neurofibromatosis 1; Female; Male; Tomography, Optical Coherence; Retrospective Studies; Multimodal Imaging; Adult; Fluorescein Angiography; Adolescent; Middle Aged; Young Adult; Child; Choroid; Choroid Diseases; Fundus Oculi
PubMed: 38940356
DOI: 10.4274/tjo.galenos.2024.48017 -
Turkish Journal of Ophthalmology Jun 2024To report ocular manifestations in patients with Fabry disease (FD) from a tertiary eye care center in Türkiye.
OBJECTIVES
To report ocular manifestations in patients with Fabry disease (FD) from a tertiary eye care center in Türkiye.
MATERIALS AND METHODS
This prospective, cross-sectional study included 30 eyes of 15 patients with FD. The diagnosis of FD was made based on a combination of clinical findings, genetic analysis, and biochemical evaluation. All participants underwent a detailed ophthalmic examination with special focus on the typical ocular features of FD (cornea verticillata, conjunctival aneurysms, cataract, retinal vessel tortuosity).
RESULTS
The mean age was 45±17 years (range: 22-75 years), with a female/male ratio of 2:3. All patients had tortuous conjunctival vessels and 12 patients (80%) had conjunctival aneurysms. Cornea verticillata was present in 10 patients (66.6%), lens opacification in 4 patients (26.6%), and retinal vascular tortuosity in 8 patients (53.3%). All patients had at least two different ocular findings; most (3 heterozygotes/7 hemizygotes) had a combination of corneal verticillata and conjunctival vessel abnormality. The conjunctiva, cornea, and retina were affected together in 5 hemizygous patients (33.3%). One hemizygous patient had all FDrelated ocular manifestations in both eyes.
CONCLUSION
To our knowledge, this study is the first to describe the ocular manifestations of FD in the Turkish population. Although cornea verticillata is considered a hallmark of FD, it was absent in approximately one-third of patients. Moreover, cataract, another well-known feature of FD, was present in only 26.6% of the patients. Conjunctival vascular abnormality alone seems to be quite rare in FD, although it often accompanies other ocular manifestations. Therefore, recognition of other mild findings and special consideration of their associations may increase the diagnostic value of ocular findings in FD.
Topics: Humans; Fabry Disease; Female; Male; Adult; Middle Aged; Cross-Sectional Studies; Prospective Studies; Tertiary Care Centers; Aged; Young Adult; Turkey; Conjunctiva; Eye Diseases; Visual Acuity; Cornea; Conjunctival Diseases
PubMed: 38940325
DOI: 10.4274/tjo.galenos.2024.09482 -
Biomeditsinskaia Khimiia Jun 2024The free radical and cytokine statuses of the cornea during its thermal burn and the possibility of its correction by lactoferrin have been studied in Soviet Chinchilla...
The free radical and cytokine statuses of the cornea during its thermal burn and the possibility of its correction by lactoferrin have been studied in Soviet Chinchilla rabbits. The development of a corneal thermal burn was accompanied by the development of oxidative stress (increased levels of TBA-reactive substances and carbonyl derivatives of proteins, decreased activity of SOD and GPx enzymes) and a pronounced inflammatory reaction with increased levels of TNF-1α, IL-10, TGF-1β. The use of lactoferrin had a pronounced therapeutic effect, which was manifested by accelerated healing, prevention of the development of complications (corneal perforations), a decrease in the severity of oxidative stress, an increase in the concentrations of TNF-1α (in the early stages), IL-10 (in the later stages), TGF-1β (throughout the experiment). At the same time, by the end of regeneration more severe corneal opacification was recognized compared to the control group. This may be associated with an increased level of anti-inflammatory cytokines, especially TGF-1β.
Topics: Animals; Lactoferrin; Rabbits; Cornea; Oxidative Stress; Cytokines; Eye Burns; Male; Free Radicals; Corneal Injuries; Disease Models, Animal
PubMed: 38940206
DOI: 10.18097/PBMC20247003168 -
Journal of Child & Adolescent Trauma Jun 2024PTSD treatment that focused on a sensory symptoms is increasing. The study aimed to explore symptoms and abnormalities in the five senses exhibited by persons with PTSD...
PTSD treatment that focused on a sensory symptoms is increasing. The study aimed to explore symptoms and abnormalities in the five senses exhibited by persons with PTSD and to examine whether there are any differences depending on type of traumatic experience. Questionnaire was followed by interviews to clinical psychologists involved in the treatment of PTSD. 249 PTSD symptoms exhibited in the sensory organs were collected. Sensory symptoms were classified into three categories according to the type of symptoms and the type of traumatic events. Cluster 1 is a group formed by child abuse and violence together with audition, tactile, and hyperarousal. Cluster 2 is made up of natural disaster, accident, and sexual assault together with vision, olfaction and intrusion. Cluster 3 is made up of multiple traumas together with gustation and dissociation. It is speculated that the survivors of Child abuse and violence are hypersensitive to sounds, the presence of others, and physical contact because they try to quickly sense when a perpetrator is approaching. Natural disasters, accidents, and sexual assault are events with strong smell and severe visual impact, it is possible that they may easily cause reliving of the event in the form of shocking visual images and smells in flashbacks. Dissociation symptoms were related with complex trauma and taste. The mouth is the site of first contact between mother and child, and it is possible that gustatory dissociation may occur mainly in cases of severe and repeated trauma since early childhood.
PubMed: 38938954
DOI: 10.1007/s40653-023-00602-5 -
BMC Oral Health Jun 2024To examine the patterns of pretreatment facial soft tissue shape in orthodontic cases with premolar extraction using artificial intelligence (AI) and to investigate the... (Comparative Study)
Comparative Study
OBJECTIVE
To examine the patterns of pretreatment facial soft tissue shape in orthodontic cases with premolar extraction using artificial intelligence (AI) and to investigate the corresponding changes.
METHODS
One hundred and fifty-two patients who underwent orthodontic treatment with premolar extraction were enrolled. Lateral cephalograms were obtained before and after the treatment. For each record, the outlines of the nose-lip-chin profile and corresponding 21 cephalometric variables were extracted. The AI method classified pretreatment records into three subject groups based on the feature variables extracted from the outline. Dentoskeletal and soft tissue facial form changes observed after treatment were compared statistically (P < 0.05) between the groups using ANOVA. Multivariate regression models were used for each group.
RESULTS
Group 1 (n = 59) was characterized by Class II high-angle retrognathic mandible with an incompetent lip, group 2 (n = 55) by Class I malocclusion with retruded and thin lips, and group 3 (n = 38) by Class I malocclusion with an everted superior lip before treatment. The ratios of anteroposterior soft tissue to hard tissue movements in Group 1 were 56% (r = 0.64) and 83% (r = 0.75) for the superior and inferior lips, respectively, whereas those in Group 2 were 49% (r = 0.78) and 91% (r = 0.80), and 40% (r = 0.54) and 79% (r = 0.70), respectively, in Group 3.
CONCLUSIONS
The modes of facial form changes differed depending on the pre-treatment profile patterns classified by the AI. This indicates that the determination of the pre-treatment profile pattern can help in the selection of soft tissue to hard tissue movement ratios, which helps estimate the post-treatment facial profile with a moderate to high correlation.
Topics: Humans; Cephalometry; Face; Bicuspid; Tooth Extraction; Female; Male; Lip; Adolescent; Nose; Malocclusion, Angle Class I; Artificial Intelligence; Chin; Malocclusion, Angle Class II; Mandible; Tooth Movement Techniques; Child; Young Adult; Malocclusion
PubMed: 38937790
DOI: 10.1186/s12903-024-04512-2 -
International Ophthalmology Jun 2024Age-related cataract (ARC) is the most common cause of visual impairment and blindness in older adults. However, the role of CUL4B in the ARC remains unclear. Therefore,...
PURPOSE
Age-related cataract (ARC) is the most common cause of visual impairment and blindness in older adults. However, the role of CUL4B in the ARC remains unclear. Therefore, we investigated CUL4B expression and its effects on apoptosis.
MATERIALS AND METHODS
CUL4B expression levels were detected by a quantitative real-time polymerase chain reaction from the anterior lens capsules of patients with ARC and HLE-B3 cells treated with different concentrations of HO. CUL4B expression was silenced by siRNA transfection to evaluate apoptosis. CUL4B and apoptotic proteins B cell lymphoma 2 (Bcl-2), myeloid cell leukemia 1 (Mcl-1), caspase-3, cleaved caspase-3, Bax, Bak, and Bid were assessed using western blot analysis. Apoptosis was monitored using the TUNEL assay.
RESULTS
CUL4B expression was downregulated in the anterior lens capsules (P < 0.0001) and HO-treated HLE-B3 cells (P = 0.0405). CUL4B protein levels were significantly lower in 100 µmol/L (P = 0.0012) and 200 µmol/L (P = 0.0041) HO-treated HLE-B3 cells than in the untreated cells. CUL4B expression was significantly knocked down at the mRNA (P = 0.0043) and protein levels (P = 0.0002) in HLE-B3 cells. Bcl-2 (P = 0.0199), Mcl-1 (P = 0.0042), and caspase-3 (P = 0.0142) were significantly downregulated, whereas cleaved caspase-3 (P = 0.0089) and Bak (P = 0.009) were significantly upregulated in the knockdown group. The TUNEL assay showed a greater induction of apoptosis.
CONCLUSIONS
CUL4B downregulation promotes the apoptosis of lens epithelial cells. Our study may help in understanding the role of CUL4B in ARC pathogenesis.
Topics: Humans; Cataract; Cullin Proteins; Apoptosis; Male; Female; Aged; Blotting, Western; Real-Time Polymerase Chain Reaction; Middle Aged; Aging; Gene Expression Regulation; Lens Capsule, Crystalline; In Situ Nick-End Labeling
PubMed: 38937308
DOI: 10.1007/s10792-024-03011-1 -
Facial Plastic Surgery Clinics of North... Aug 2024After reading this article, one should better understand the anatomy of the forehead, brow, and eyelid complexes in the male patient. A thorough history and physical... (Review)
Review
After reading this article, one should better understand the anatomy of the forehead, brow, and eyelid complexes in the male patient. A thorough history and physical examination allows the facial plastic surgeon to properly select male patients in whom blepharoplasty and brow lift may be indicated. Specific surgical approaches to upper and lower blepharoplasty are discussed in detail. Surgical techniques and indications for each approach to brow lift in men, including direct, midforehead, coronal, pretrichial, endoscopic, temporal, and transblepharoplasty are explicitly outlined.
Topics: Humans; Blepharoplasty; Male; Eyebrows; Forehead; Rhytidoplasty; Eyelids; Rejuvenation
PubMed: 38936995
DOI: 10.1016/j.fsc.2024.03.002 -
In Vivo (Athens, Greece) 2024Diabetic retinopathy is a leading cause of blindness worldwide, characterized by neurovascular dysfunction. This study aimed to investigate the impact of brimonidine, a...
BACKGROUND/AIM
Diabetic retinopathy is a leading cause of blindness worldwide, characterized by neurovascular dysfunction. This study aimed to investigate the impact of brimonidine, a selective adrenoceptor agonist, on diabetic retinal neurodegeneration, recognizing the critical role of neurodegeneration in diabetic retinopathy.
MATERIALS AND METHODS
Streptozotocin-induced diabetes was established in adult male Sprague-Dawley rats to mimic diabetic retinopathy. Rats, except non-diabetic control rats, received topical applications of 0.15% brimonidine tartrate (treatment group) or balanced salt solution (diabetic control group) twice daily following diabetes induction. Each group comprised six randomly assigned animals. Retinal samples were analyzed using immunofluorescence staining, apoptosis assay, and western blot.
RESULTS
Topical brimonidine treatment reduced apoptosis of retinal ganglion cells at 8 weeks after induction of diabetes (p<0.05). Glial activation induced by diabetes was reduced by brimonidine treatment. Immunoblot and immunofluorescence assay revealed that the decrease in phospho- protein kinase B (AKT) level resulting from diabetes was also attenuated by brimonidine (p<0.05). Furthermore, brimonidine alleviated the decrease in anti-apoptotic proteins [BCL2 apoptosis regulator (BCL2) and BCL-xl] induced by diabetes (p<0.05). Elevation of phospho-p38 mitogen-activated protein kinase (p38MAPK) and p53 in diabetic rats were reduced by brimonidine (p<0.05). Additionally, brimonidine treatment attenuated the upregulation of the pro-apoptotic molecule BCL-2 associated X in retinas of diabetic rats (p<0.05).
CONCLUSION
These findings suggest that topical brimonidine treatment may protect retinal ganglion cells in experimental diabetes by modulating the AKT pathway and reducing pro-apoptotic p38MAPK levels. This presents a potential neuroprotective approach in diabetes, offering the advantage of localized treatment without the added burden of oral medication.
Topics: Animals; Diabetic Retinopathy; Brimonidine Tartrate; Neuroprotective Agents; Rats; Apoptosis; Diabetes Mellitus, Experimental; Male; Retinal Ganglion Cells; Administration, Topical; Disease Models, Animal; Rats, Sprague-Dawley; Proto-Oncogene Proteins c-akt; Retina
PubMed: 38936912
DOI: 10.21873/invivo.13611 -
In Vivo (Athens, Greece) 2024The purpose of the current study was to compare the vascular endothelial growth factor-A (VEGF-A) levels in the aqueous humor of patients with primary open angle... (Observational Study)
Observational Study
BACKGROUND/AIM
The purpose of the current study was to compare the vascular endothelial growth factor-A (VEGF-A) levels in the aqueous humor of patients with primary open angle glaucoma (POAG) and non-glaucomatous eyes and reveal any potential statistically significant correlations.
PATIENTS AND METHODS
This was an observational cross-sectional study. Aqueous humor samples (50-100 μl) were collected under aseptic conditions, from the anterior chamber at the start of glaucoma or cataract surgery. The levels of VEGF-A were measured using a multiplex bead-based immunoassay.
RESULTS
Aqueous humor samples were obtained from 76 participants: 39 with POAG and 36 with age-related cataracts as controls. VEGF-A levels were significantly elevated in the POAG group (166.37±110.04 pg/ml, p=0.011) compared to the control group (119.02±49.09 pg/ml). The receiver operating characteristic (ROC) analysis showed that VEGF-A had significant prognostic ability for POAG (AUC=0.67; p=0.006). An optimal cut-off for VEGF-A was found to be 148.5 pg/ml with a sensitivity of 54%, specificity of 81.1%, positive prognostic value (PPV) of 75% and negative prognostic value (NPV) of 62.5%. Logistic regression analysis showed that after adjusting for sex and age, patients with VEGF-A higher than 148.5 pg/ml had almost 10 times greater likelihood for POAG.
CONCLUSION
VEGF-A is elevated in patients with POAG and can potentially have a prognostic ability for these patients.
Topics: Humans; Glaucoma, Open-Angle; Aqueous Humor; Vascular Endothelial Growth Factor A; Female; Male; Aged; Middle Aged; ROC Curve; Cross-Sectional Studies; Prognosis; Biomarkers
PubMed: 38936903
DOI: 10.21873/invivo.13642 -
Pediatric Neurology Jun 2024Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) is associated to BPTF gene haploinsufficiency. Epilepsy was not included in the...
BACKGROUND
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) is associated to BPTF gene haploinsufficiency. Epilepsy was not included in the initial descriptions of NEDDFL, but emerging evidence indicates that epileptic seizures occur in some affected individuals. This study aims to investigate the electroclinical epilepsy features in individuals with NEDDFL.
METHODS
We enrolled individuals with BPTF-related seizures or interictal epileptiform discharges (IEDs) on electroencephalography (EEG). Demographic, clinical, genetic, raw EEG, and neuroimaging data as well as response to antiseizure medication were assessed.
RESULTS
We studied 11 individuals with a null variant in BPTF, including five previously unpublished ones. Median age at last observation was 9 years (range: 4 to 43 years). Eight individuals had epilepsy, one had a single unprovoked seizure, and two showed IEDs only. Key features included (1) early childhood epilepsy onset (median 4 years, range: 10 months to 7 years), (2) well-organized EEG background (all cases) and brief bursts of spikes and slow waves (50% of individuals), and (3) developmental delay preceding seizure onset. Spectrum of epilepsy severity varied from drug-resistant epilepsy (27%) to isolated IEDs without seizures (18%). Levetiracetam was widely used and reduced seizure frequency in 67% of the cases.
CONCLUSIONS
Our study provides the first characterization of BPTF-related epilepsy. Early-childhood-onset epilepsy occurs in 19% of subjects, all presenting with a well-organized EEG background associated with generalized interictal epileptiform abnormalities in half of these cases. Drug resistance is rare.
PubMed: 38936258
DOI: 10.1016/j.pediatrneurol.2024.06.001