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2.
BMC Ophthalmol ; 23(1): 324, 2023 Jul 17.
Article in English | MEDLINE | ID: mdl-37460946

ABSTRACT

BACKGROUND: Retinal breaks (RB) are emergencies that require treatment to prevent progression of rhegmatogenous retinal detachment. Vitreal hyperreflective foci (VHF) representing migration of RPE cell clusters or interphotoreceptor matrix from the RB are potential biomarkers. The aim of this study is to investigate VHF in RB-patients using SD-OCT. METHODS: The retrospective cross-sectional study included RB patients from our Department of Ophthalmology, HSK Wiesbaden who underwent macular SD-OCT (SPECTRALIS®, Heidelberg Engineering, Germany) on both eyes. VHF, defined and quantified as foci that differ markedly in size and reflectivity from the background speckle pattern, were assessed for presence and frequency. The RB-affected eyes were the study group (G1), the partner eyes the control group (G2). RESULTS: 160 consecutive patients with RB were included. Age was 60 ± 10.2 years (52% female). 89.4% of G1 and 87.5% of G2 were phakic (p = 0.73). 94.4% (n = 151) were symptomatic. Symptom duration was 8.0 ± 10.1 days in G1, 94.4% (n = 151) showed VHF versus 5.6% (p < 0.0001) in G2, of which 75% (n = 6) showed asymptomatic lattice degenerations. Detectable VHF showed a strong association of OR = 320 (95% CI, 110-788, p < 0.0001)) with respect to symptomatic RB. Sensitivity and specificity were 94.7% and 94.7%, respectively. CONCLUSIONS: Most eyes with symptomatic RB show vitreal VHF in SD-OCT. Detected VHF are strongly associated with RB, and our semi-automated greyscale reflectivity analysis indicates that VHF likely originate from photoreceptor complexes torn out of the RB area that migrate into the vitreous cavity. The presence of VHF may indicate RB and should lead to a thorough fundus examination in both symptomatic and asymptomatic cases.


Subject(s)
Retinal Detachment , Retinal Perforations , Humans , Female , Middle Aged , Aged , Male , Retinal Perforations/diagnosis , Retrospective Studies , Tomography, Optical Coherence/methods , Cross-Sectional Studies , Retinal Detachment/diagnosis
3.
Cogn Emot ; 37(4): 748-762, 2023.
Article in English | MEDLINE | ID: mdl-37104122

ABSTRACT

Recognising and responding appropriately to emotions is critical to adaptive psychological functioning. Psychopathic traits (e.g. callous, manipulative, impulsive, antisocial) are related to differences in recognition and response when emotion is conveyed through facial expressions and language. Use of emotional music stimuli represents a promising approach to improve our understanding of the specific emotion processing difficulties underlying psychopathic traits because it decouples recognition of emotion from cues directly conveyed by other people (e.g. facial signals). In Experiment 1, participants listened to clips of emotional music and identified the emotional content (Sample 1, N = 196) or reported on their feelings elicited by the music (Sample 2, N = 197). Participants accurately recognised (t(195) = 32.78, p < .001, d = 4.69) and reported feelings consistent with (t(196) = 7.84, p < .001, d = 1.12) the emotion conveyed in the music. However, psychopathic traits were associated with reduced emotion recognition accuracy (F(1, 191) = 19.39, p < .001) and reduced likelihood of feeling the emotion (F(1, 193) = 35.45, p < .001), particularly for fearful music. In Experiment 2, we replicated findings for broad difficulties with emotion recognition (Sample 3, N = 179) and emotional resonance (Sample 4, N = 199) associated with psychopathic traits. Results offer new insight into emotion recognition and response difficulties that are associated with psychopathic traits.


Subject(s)
Music , Humans , Antisocial Personality Disorder/psychology , Emotions/physiology , Fear , Facial Expression
5.
Nat Commun ; 13(1): 1001, 2022 02 22.
Article in English | MEDLINE | ID: mdl-35194019

ABSTRACT

RNA interference is required for post-transcriptional silencing, but also has additional roles in transcriptional silencing of centromeres and genome stability. However, these roles have been controversial in mammals. Strikingly, we found that Dicer-deficient embryonic stem cells have strong proliferation and chromosome segregation defects as well as increased transcription of centromeric satellite repeats, which triggers the interferon response. We conducted a CRISPR-Cas9 genetic screen to restore viability and identified transcriptional activators, histone H3K9 methyltransferases, and chromosome segregation factors as suppressors, resembling Dicer suppressors identified in independent screens in fission yeast. The strongest suppressors were mutations in the transcriptional co-activator Brd4, which reversed the strand-specific transcription of major satellite repeats suppressing the interferon response, and in the histone acetyltransferase Elp3. We show that identical mutations in the second bromodomain of Brd4 rescue Dicer-dependent silencing and chromosome segregation defects in both mammalian cells and fission yeast. This remarkable conservation demonstrates that RNA interference has an ancient role in transcriptional silencing and in particular of satellite repeats, which is essential for cell cycle progression and proper chromosome segregation. Our results have pharmacological implications for cancer and autoimmune diseases characterized by unregulated transcription of satellite repeats.


Subject(s)
Schizosaccharomyces pombe Proteins , Schizosaccharomyces , Animals , Cell Cycle Proteins/genetics , Cell Cycle Proteins/metabolism , Centromere/metabolism , Genomic Instability , Histone Acetyltransferases/genetics , Interferons/genetics , Mammals/genetics , Nuclear Proteins/genetics , Schizosaccharomyces/genetics , Schizosaccharomyces/metabolism , Schizosaccharomyces pombe Proteins/genetics , Transcription Factors/genetics
8.
Psychiatry Res Neuroimaging ; 303: 111127, 2020 09 30.
Article in English | MEDLINE | ID: mdl-32593950

ABSTRACT

We sought effective (directional) connectivity parameters associated with response to citalopram in cocaine use disorder (CUD) by conducting a functional magnetic resonance imaging (fMRI) experiment with participants diagnosed with CUD (n = 13) and matched healthy controls (HC; n = 17). CUD participants showed a positive correlation between bilateral DLPFC-to-putamen effective connectivity and treatment effectiveness score. These preliminary results support further investigation of prefrontal-striatal interactions in response to treatment in CUD.


Subject(s)
Citalopram/therapeutic use , Cocaine-Related Disorders/drug therapy , Corpus Striatum/drug effects , Magnetic Resonance Imaging/methods , Prefrontal Cortex/drug effects , Selective Serotonin Reuptake Inhibitors/therapeutic use , Adult , Citalopram/pharmacology , Cocaine-Related Disorders/diagnostic imaging , Corpus Striatum/diagnostic imaging , Female , Humans , Impulsive Behavior/drug effects , Impulsive Behavior/physiology , Male , Nerve Net/diagnostic imaging , Nerve Net/drug effects , Prefrontal Cortex/diagnostic imaging , Selective Serotonin Reuptake Inhibitors/pharmacology , Treatment Outcome , Young Adult
9.
Int Ophthalmol ; 40(9): 2403-2412, 2020 Sep.
Article in English | MEDLINE | ID: mdl-32361861

ABSTRACT

PURPOSE: To review the clinical outcome of keratoconus patients after excimer laser treatment with combined riboflavin UV-A collagen crosslinking (CXL) treatment was reviewed in light of the UDVA, CDVA and HOA. METHODS: Following a PubMed-based literature review of studies on excimer laser treatment with combined riboflavin UV-A CXL published between 2009 and 2018, peer-reviewed English-written studies were evaluated using the GRADE approach ( www.gradeworkinggroup.org ). The current review focused on the change in the (un)corrected distance visual acuity (UDVA; CDVA) and higher-order aberrations (HOA) as well as the prevalence of postoperative complications. RESULTS: Five studies with a total of 573 eyes were included, thereby reporting on 479 eyes were treated with the aforementioned combination therapy. The control group consisted of 94 eyes in total. Changes between pre- and postoperative CDVA and/or UDVA were statistically significant in all five studies after at least a 24-month follow-up period for the combined excimer laser-assisted CXL treatment in comparison with the CXL-only treatment option. Three studies described statistically significant reduction in the number of total HOA, in particular, those related to coma and spherical aberration. Corneal haze was reported in four studies, but the condition was successfully treated in all cases. CONCLUSION: Current studies suggest that CDVA, UDVA and HOA in low-to-moderate keratoconic patients improved in a combined treatment without sacrificing biomechanical stability of the cornea. However, long-term results are needed, as the studies in our review have a follow-up period of 68 months or less.


Subject(s)
Keratoconus , Photochemotherapy , Photorefractive Keratectomy , Collagen/therapeutic use , Corneal Stroma , Corneal Topography , Cross-Linking Reagents/therapeutic use , Humans , Keratoconus/drug therapy , Keratoconus/surgery , Lasers, Excimer/therapeutic use , Photosensitizing Agents/therapeutic use , Riboflavin/therapeutic use , Ultraviolet Rays
11.
Nature ; 576(7786): 228-231, 2019 12.
Article in English | MEDLINE | ID: mdl-31802006

ABSTRACT

The prediction of a supersonic solar wind1 was first confirmed by spacecraft near Earth2,3 and later by spacecraft at heliocentric distances as small as 62 solar radii4. These missions showed that plasma accelerates as it emerges from the corona, aided by unidentified processes that transport energy outwards from the Sun before depositing it in the wind. Alfvénic fluctuations are a promising candidate for such a process because they are seen in the corona and solar wind and contain considerable energy5-7. Magnetic tension forces the corona to co-rotate with the Sun, but any residual rotation far from the Sun reported until now has been much smaller than the amplitude of waves and deflections from interacting wind streams8. Here we report observations of solar-wind plasma at heliocentric distances of about 35 solar radii9-11, well within the distance at which stream interactions become important. We find that Alfvén waves organize into structured velocity spikes with duration of up to minutes, which are associated with propagating S-like bends in the magnetic-field lines. We detect an increasing rotational component to the flow velocity of the solar wind around the Sun, peaking at 35 to 50 kilometres per second-considerably above the amplitude of the waves. These flows exceed classical velocity predictions of a few kilometres per second, challenging models of circulation in the corona and calling into question our understanding of how stars lose angular momentum and spin down as they age12-14.

12.
Ophthalmologe ; 116(7): 677-681, 2019 Jul.
Article in German | MEDLINE | ID: mdl-30684006

ABSTRACT

According to the literature there are a large number of potential systemic contraindications for corneal refractive surgery. In cases with relative contraindications, surgery should be performed only after weighing up the individual risks and under controlled disease conditions; however, the "evidence" for many of these contraindications is based only on case reports or series, expert opinions or known complications in non-laser-assisted eye surgery. Randomized clinical trials are therefore required.


Subject(s)
Corneal Diseases , Keratomileusis, Laser In Situ , Contraindications , Cornea
15.
Mol Psychiatry ; 23(5): 1169-1180, 2018 05.
Article in English | MEDLINE | ID: mdl-29155802

ABSTRACT

Anorexia nervosa (AN) is a complex neuropsychiatric disorder presenting with dangerously low body weight, and a deep and persistent fear of gaining weight. To date, only one genome-wide significant locus associated with AN has been identified. We performed an exome-chip based genome-wide association studies (GWAS) in 2158 cases from nine populations of European origin and 15 485 ancestrally matched controls. Unlike previous studies, this GWAS also probed association in low-frequency and rare variants. Sixteen independent variants were taken forward for in silico and de novo replication (11 common and 5 rare). No findings reached genome-wide significance. Two notable common variants were identified: rs10791286, an intronic variant in OPCML (P=9.89 × 10-6), and rs7700147, an intergenic variant (P=2.93 × 10-5). No low-frequency variant associations were identified at genome-wide significance, although the study was well-powered to detect low-frequency variants with large effect sizes, suggesting that there may be no AN loci in this genomic search space with large effect sizes.


Subject(s)
Anorexia Nervosa/genetics , Cell Adhesion Molecules/genetics , Exome/genetics , Family , Female , GPI-Linked Proteins/genetics , Genetic Predisposition to Disease/genetics , Genetic Variation/genetics , Genome-Wide Association Study , Genotype , Humans , Introns/genetics , Male , Phenotype , Polymorphism, Single Nucleotide/genetics , White People/genetics
16.
J Electrocardiol ; 50(5): 540-542, 2017.
Article in English | MEDLINE | ID: mdl-28501267

ABSTRACT

Despite the increasing number of women entering the medical profession, senior positions and academic productivity in many fields of medicine remain to be men dominated. We explored gender equity in electrocardiology as perceived by recent academic productivity and also active participation (presidencies and board constituents) in both the International Society of Electrocardiology (ISE) and the International Society for Holter and Noninvasive Electrocardiology (ISHNE). Academic productivity was measured by authorship (first and senior) in the Journal of Electrocardiology (JECG) and the Annals of Noninvasive Electrocardiology (ANE) in 2015. The percentage of women ISE and ISHNE Presidents was 5.6% and 0%, respectively. Current women board constituents for each society was 12.1% for ISE, and 9.4% for ISHNE. JECG articles published in 2015 had considerably less women compared to men for both senior (16.3%) and first (25.3%) authorship. ANE articles published in 2015 followed the same trends in gender, having less women compared to men for both senior (9.4%) and first (19.3%) authorship. There is a gender equity imbalance in the field of Electrocardiology. Identifying a gender imbalance is important for understanding reasons behind these trends, and may also help improve gender equity in Electrocardiology.


Subject(s)
Authorship , Cardiology , Electrocardiography , Periodicals as Topic , Physicians, Women/statistics & numerical data , Publishing/statistics & numerical data , Female , Humans , Male , Societies, Medical , Specialty Boards , Workforce
17.
J Clin Neurosci ; 38: 84-86, 2017 Apr.
Article in English | MEDLINE | ID: mdl-28087187

ABSTRACT

Several studies in multiple sclerosis (MS) suggest a trend of increasing disease frequency in women during the last decades. A direct comparison of gender ratio trends among MS populations from Argentina remains to be carried out. The objective of the study was to compare gender ratio trends, over a 50-year span in MS populations from Argentina. METHODS: multicenter study that included patients from 14 MS Centers of Argentina. Patients with definite MS with birth years ranging from 1940 to 1989 were included. Gender ratios were calculated by five decades based on year of birth and were adjusted for the F/M born-alive ratio derived from the Argentinean national registry of births. The F/M ratios were calculated using a multivariate logistic regression per five decades by the year of birth approach. Analyses were performed using Stata 10.1. RESULTS: 1069 patients were included. Gender ratios showed a significant increase from the first to the last decade in the whole MS sample (from 1.8 to 2.7; p value for trend=0.023). The Gender ratio did not show differences considering MS subtype. CONCLUSION: our study showed a modest increase of the F/M ratio (from 1.8 to 2.7) over time among patients affected by MS in Argentina.


Subject(s)
Multiple Sclerosis/diagnosis , Multiple Sclerosis/epidemiology , Sex Ratio , Adult , Argentina/epidemiology , Female , Humans , Male , Middle Aged , Registries , Retrospective Studies
18.
Ophthalmologe ; 114(8): 722-727, 2017 Aug.
Article in German | MEDLINE | ID: mdl-27913863

ABSTRACT

BACKGROUND: Refractive lens exchange and implantation of a multifocal intraocular lens (MIOL) is mainly advised for ametropes with presbyopia. Non-presbyopic young ametropes who wish spectacle-independence are usually treated with corneal refractive surgery or phakic lenses. OBJECTIVES: This retrospective case series aimed to analyse the refractive and subjective satisfaction outcome after MIOL surgery in both eyes of non-presbyopic ametropes where other treatment options were not possible. MATERIALS AND METHODS: This retrospective case series comprised consecutively treated 32 eyes of 16 patients (5 myopic, 11 hyperopic patients; mean age 31 ± 6 years) who wished spectacle-independence and thus received an aspheric bifocal biconvex refractive-diffractive single-piece MIOL (Acri.Lisa 366/809, Carl Zeiss Meditec AG). Refractive data prior to and after surgery as well as subjective satisfaction at the 1­year follow-up examination were assessed. RESULTS: Related to distance corrected near visual acuity myopic eyes had a median efficacy index (EI) of 0.92 (±0.20) and hyperopes of 0.91 (±0.12) (P = 0.415). For intermediate vision, in both groups a lower EI (<0.5; P = 0.188) resulted in lower subjective satisfaction, which was higher for near and distance vision. Some of hyperopic patients reported limitations in near and distance vision, only one hyperopic patient would not have chosen this surgery again. None had a related complication during the follow-up. CONCLUSIONS: When neither laser refractive surgery nor implantation of a phakic lens is possible, young non-presbyopic ametropes do profit from MIOL surgery with an aspheric bifocal biconvex refractive-diffractive MIOL.


Subject(s)
Hyperopia/surgery , Multifocal Intraocular Lenses , Myopia/surgery , Adult , Female , Germany , Humans , Male , Patient Satisfaction , Refraction, Ocular , Retrospective Studies , Visual Acuity
19.
Mult Scler Relat Disord ; 9: 91-4, 2016 Sep.
Article in English | MEDLINE | ID: mdl-27645351

ABSTRACT

UNLABELLED: In 1996, the prevalence of multiple sclerosis (MS) for the metropolitan area of Buenos Aires using the capture-recapture method was estimated to be between 14 and 19.8 cases per 100,000 inhabitants. The aim of this study was to update the prevalence to 2014 following the same methodology. METHODS: Gran Buenos Aires is the denomination that refers to the megalopolis comprised by the autonomous city of Buenos Aires and the surrounding conurbation of the province of Buenos Aires. The study was carried out taking December 2014 as the prevalence month. We used the capture-recapture method to estimate the prevalence of MS cross-matching registries from 6 MS Centers from the metropolitan area of Buenos Aires. Log-linear model Poisson regression was used to estimate the number of affected MS patients not detected by any of the 6 sources considered. RESULTS: 1035 registries were obtained from the 6 lists from 910 different patients detected. The population of the area based on 2010 census was 12,806,866, the number of MS cases estimated amongst source interactions were 4901. The estimated prevalence was 38.2 per 100,000 inhabitants (95% CI 36.1-41.2). CONCLUSION: The study is an update almost 20 years after the first one in the area showing a significant increase in the previous reported prevalence. Our findings are in line with previous studies performed in other regions of the world.


Subject(s)
Multiple Sclerosis/epidemiology , Argentina/epidemiology , Humans , Prevalence , Registries
20.
Graefes Arch Clin Exp Ophthalmol ; 254(10): 2005-2009, 2016 Oct.
Article in English | MEDLINE | ID: mdl-27549579

ABSTRACT

PURPOSE: To evaluate the objective and subjective outcome after phototherapeutic keratectomy (PTK) on recurrent corneal erosions (Hamburg protocol). METHODS: For the standardized PTK according to Hamburg protocol a manual abrasio corneae performed with 20 % alcohol is followed by an excimer ablation depth of ≥15 µm (group1 15 µm; group 2 > 15 µm ablation depth) and 7 mm optical zone. All patients (N = 48) were invited for follow-up examinations and the evaluation of changes concerning subjective symptoms. RESULTS: A significantly reduced subjective impairment of night vision, significantly less pain and less foreign body sensations (for all p < 0.05) were noted in 48 patients that met the inclusion criteria (26 women, 22 men). In the follow-up period an improvement of corrected distance visual acuities (cdva) from 0.80 to 1.08 (group 1) and from 0.58 to 0.99 (group 2) was demonstrated. CONCLUSION: PTK (Hamburg Schema) is a safe and effective procedure to reduce subjective symptoms and improve discomfort in recurrent corneal erosion.


Subject(s)
Corneal Diseases/diagnosis , Corneal Diseases/surgery , Lasers, Excimer/therapeutic use , Photorefractive Keratectomy/methods , Adult , Female , Follow-Up Studies , Humans , Male , Middle Aged , Recurrence , Retrospective Studies , Visual Acuity/physiology
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