ABSTRACT
Equipping an ophthalmoscope with adaptive optics (AO) offers access to the living human retina with unprecedented spatial resolution. With AO, cellular structures such as the nerve fiber layer, the microvasculature of the smallest retinal capillaries, rod and cone photoreceptors and the mosaic of the retinal pigment epithelium are directly observable. A large number of studies in the normal and diseased retina have already shown that this level of detail offers new insights into disease mechanisms and progression, and promises to identify early disease markers. In conjunction with functional testing of single photoreceptors that is possible with AO microstimulation, a structure-function relationship on the cellular scale is within reach. These technological advances offer new avenues for clinical ophthalmology, interventional efforts, and basic research of the function and dysfunction of vision.
Subject(s)
Image Enhancement/instrumentation , Lenses , Microscopy/instrumentation , Neuroimaging/instrumentation , Ophthalmoscopes , Retina/cytology , Equipment Design , Equipment Failure Analysis , Technology Assessment, BiomedicalSubject(s)
Conjunctiva/pathology , Scleritis/diagnosis , Scleritis/etiology , Surgical Wound Dehiscence/diagnosis , Surgical Wound Dehiscence/etiology , Vitreoretinal Surgery/adverse effects , Aged , Diagnosis, Differential , Female , Humans , Scleritis/therapy , Surgical Wound Dehiscence/therapy , Treatment OutcomeABSTRACT
Introduction: Les cals vicieux diaphysaires du fémur sont le plus souvent les complications du traitement traditionnel des fractures. Cette étude avait pour objectifs de préciser les formes anatomo-cliniques des lésions, décrire la technique utilisée, et évaluer les résultats obtenus.Matériel et méthodes. Cette étude prospective incluait tous les cals vicieux diaphysaires du fémur de l'adulte traités entre juin 2011 et mai 2015. Leur gravité de la déformation était classée selon des critères propres. Les résultats du traitement étaient évalués au recul minimum de 12 mois avec les critères de Thorensen.Résultats L'étude incluait 34 patients (28 hommes et 6 femmes) avec un âge moyen de 30 ans (16 et 65). Les patients ont consulté après un délai moyen de 7,6 mois (4 et 24). Les cals vicieux siégeaient au tiers supérieur (n=6), au tiers moyen (n=16) et au tiers inferieur (n=12). Le traitement initial des fractures était traditionnel (n=22), chirurgical (n=8)et orthopédique (n=4). Les motifs de consultation étaient mixtes associant boiterie à la marche et douleurs articulaires (n=17), douleur isolée (n=8), boiterie (n= 8). Un patient a consulté pour raison esthétique (n=1). Le raccourcissement du membre était en moyenne de 2,6 cm (2 à 4). L'angulation moyenne était de 26,7° (4 à 45°). La mobilité du genou était de 90,4° en moyenne (45 à 120°). Le délai moyen de réalisation de l'ostéotomie était de 7 mois (4 et 25) après le traumatisme. L'ostéotomie était faite après décortication ostéo musculaire selon Judet. Un enclouage avec clou de Kuntscher a été faite pour 29 fractures médiodiaphysaires. Une plaque vissée a été utilisée pour 5 fractures proximales et distales. Aucun patient n'a été perdu de vue. Nous n'avons noté ni fracture iatrogène, ni lésion vasculaire et/ou nerveuse. Aucune infection du site opératoire n'était notée. La mobilité moyenne post-opératoire du genou était de 124° (110 et 135). Au recul moyen de 21 mois les résultats selon les critères de Thorensen étaient bon (n=12) et moyen (n=22).Conclusion Les cals vicieux fémoraux avec un raccourcissement maximal de 4 cm et une angulation à 45° peuvent être corrigés à foyer ouvert en un temps opératoire après une décortication ostéomusculaire
Subject(s)
Central African Republic , Femoral Fractures , Fracture Fixation/nursing , OsteotomyABSTRACT
BACKGROUND: Optical coherence tomography angiography (OCT-A) allows noninvasive, depth-selective visualization of retinal and choroidal vascular networks by detecting the endoluminal blood flow. This results in three-dimensional high-resolution images which are not possible by regular fluorescein angiography in this spatial resolution. Thus, OCT-A can be used to visualize the microperfusion of retinal and choroidal vessels and their alterations due to diverse pathologies and during the course of therapy. Based on several clinical case reports this article gives an overview of the wide range of applications of OCT-A. METHODS: The OCT-A images were obtained with the Spectralis OCT-2 prototype (Heidelberg Engineering, Heidelberg, Germany). This device provides an increased A scan rate of 70 kHz, which allows the generation of high-resolution OCT volume scans. RESULTS: The areas of application are manifold and include neovascular age-related macular degeneration, diabetic retinopathy, retinal vascular occlusion, inflammatory diseases and telangiectasia of various etiologies. The resulting images and their interpretation differ significantly from regular fluorescein angiography. Knowledge of these differences and of the limitations of this novel diagnostic device are of importance for its clinical application. For certain indications, OCT-A may be used as a substitute for invasive fluorescein angiography and provides more detailed information, particularly due to the absence of blockage phenomena, such as pooling or staining. CONCLUSION: The use of OCT-A allows visualization of the microperfusion of the retinal and choroidal vascular networks and their alterations due to diverse diseases in high resolution and with segmentation of different anatomical layers. The exact interpretation of the three-dimensional OCT-A images and their clinical application are currently under clinical evaluation.
Subject(s)
Angiography/methods , Diagnostic Techniques, Ophthalmological , Image Enhancement/methods , Retinal Diseases/diagnostic imaging , Retinal Vessels/diagnostic imaging , Tomography, Optical Coherence/methods , HumansSubject(s)
Brain Injuries/complications , Neurosurgery , Paraphilic Disorders/complications , Self-Injurious Behavior/complications , Suicide, Attempted/psychology , Adult , Antidepressive Agents/therapeutic use , Brain Injuries/psychology , Brain Injuries/surgery , Depressive Disorder, Major/complications , Depressive Disorder, Major/drug therapy , Depressive Disorder, Major/psychology , Disruptive, Impulse Control, and Conduct Disorders/complications , Disruptive, Impulse Control, and Conduct Disorders/drug therapy , Disruptive, Impulse Control, and Conduct Disorders/psychology , Humans , Male , Paraphilic Disorders/drug therapy , Paraphilic Disorders/psychology , Self-Injurious Behavior/psychology , Sertraline/therapeutic useABSTRACT
Pseudoxanthoma elasticum (PXE) is a system disease due to mutations in the ABCC6 gene with characteristic alterations in the eyes, the skin and the cardiovascular system. Herein, we report on two families with PXE in two subsequent generations due to genetically confirmed pseudodominance. A literature review revealed that PXE due to mutations in ABCC6 follows an autosomal recessive inheritance and that disease manifestation in two subsequent generations is due to pseudodominance.
Subject(s)
Genetic Predisposition to Disease/genetics , Genetic Testing/methods , Multidrug Resistance-Associated Proteins/genetics , Polymorphism, Single Nucleotide/genetics , Pseudoxanthoma Elasticum/diagnosis , Pseudoxanthoma Elasticum/genetics , Adult , Aged , Genes, Dominant , Genetic Markers/genetics , Humans , Male , Middle AgedABSTRACT
A 65-year-old patient presented with increasing loss of vision in the right eye. A relative afferent pupillary defect as well as visual field perimetry deficits in an otherwise unremarkable eye led to the presumed diagnosis of ischemia of the optic nerve; however, further imaging revealed an extensive necrotic bronchial carcinoma in the left upper lobe metastasizing to the orbit with compression of the optic nerve. The clinical and histological features are discussed with respect to possible primary origins of orbital metastases.
Subject(s)
Neoplasms, Unknown Primary/diagnosis , Nerve Compression Syndromes/etiology , Optic Nerve Diseases/etiology , Optic Neuropathy, Ischemic/diagnosis , Orbital Neoplasms/diagnosis , Orbital Neoplasms/secondary , Aged , Diagnosis, Differential , Humans , Male , Nerve Compression Syndromes/diagnosis , Optic Nerve Diseases/diagnosis , Orbital Neoplasms/complicationsSubject(s)
Brain Injuries/complications , Sexual Behavior , Wounds, Gunshot/complications , Adult , Brain/diagnostic imaging , Brain/surgery , Brain Injuries/psychology , Brain Injuries/surgery , Foreign Bodies/surgery , Humans , Male , Radiography , Suicide, Attempted , Wounds, Gunshot/psychology , Wounds, Gunshot/surgerySubject(s)
Global Health , Macular Degeneration/diagnosis , Macular Degeneration/therapy , Retinal Telangiectasis/diagnosis , Retinal Telangiectasis/therapy , Telangiectasia, Hereditary Hemorrhagic/diagnosis , Telangiectasia, Hereditary Hemorrhagic/therapy , Biomedical Research/organization & administration , Humans , International CooperationABSTRACT
Macular telangiectasia type 2 is characterized by atrophic alterations of the central retina which is accompanied by a defined vascular phenotype. The disease manifests within an oval central retinal area the size of approximately two disc diameters, with a topographic predisposition temporal to the foveal center. Funduscopy reveals reduced retinal transparency, crystalline deposits, mildly ectatic capillaries, thickened venules and retinal pigment plaques. Secondary neovascularization and macular holes may occur during the disease course. Fluorescein angiography usually shows a diffuse leakage and often ectatic capillaries. On optical coherence tomography (OCT) examination, hyporeflective cavities and focal atrophy of the photoreceptor layer represent a frequent finding. A characteristic sign is an increased (para) central signal on fundus autofluorescence imaging due to a reduced density of macular pigment.
Subject(s)
Macula Lutea/pathology , Retinal Perforations/pathology , Retinal Telangiectasis/pathology , Telangiectasia, Hereditary Hemorrhagic/pathology , Fluorescein Angiography , Humans , Retinoscopy , Tomography, Optical CoherenceABSTRACT
The first symptoms of macular telangiectasia type 2 usually occur between 50 and 70 years of age. Functional alterations topographically correspond to the morphological changes. Characteristic paracentral scotomata due to focal photoreceptor atrophy can be detected using microperimetry. The predominant paracentral functional loss may cause reading difficulties despite visual acuity in the range between 20/20 and 20/50. Visual acuity around 20/200 may occur once the paracentral photoreceptor atrophy extends centrally, or due to the development of a macular hole or a secondary neovascular membrane. Progression of functional loss can often only be detected by mapping scotoma size or occurrence using microperimetry, while visual acuity may remain unchanged.
Subject(s)
Retinal Telangiectasis/diagnosis , Retinal Telangiectasis/physiopathology , Telangiectasia, Hereditary Hemorrhagic/diagnosis , Telangiectasia, Hereditary Hemorrhagic/physiopathology , Vision Disorders/diagnosis , Vision Disorders/physiopathology , Evidence-Based Medicine , Humans , Retinal Telangiectasis/complications , Treatment Outcome , Vision Disorders/etiologyABSTRACT
Macular telangiectasia type 2 is characterized by neurodegenerative as well as vascular and retinal alterations. Previous therapeutic approaches mainly targeted the vascular changes; however, this did not prove to be beneficial except for secondary neovascularization which may be successfully treated with intravitreal vascular endothelial growth factor inhibitors. As the natural history of the disease is primarily characterized by the neurodegenerative processes, new therapeutic strategies, such as neuroprotective agents are already being explored in clinical trials.
Subject(s)
Angiogenesis Inhibitors/therapeutic use , Neurodegenerative Diseases/drug therapy , Neuroprotective Agents/therapeutic use , Retinal Telangiectasis/drug therapy , Telangiectasia, Hereditary Hemorrhagic/drug therapy , Evidence-Based Medicine , Humans , Neurodegenerative Diseases/diagnosis , Retinal Telangiectasis/diagnosis , Telangiectasia, Hereditary Hemorrhagic/diagnosis , Treatment OutcomeSubject(s)
Arousal/drug effects , GABA-A Receptor Agonists/pharmacology , Hypoxia, Brain/drug therapy , Pyridines/pharmacology , Adult , GABA-A Receptor Agonists/administration & dosage , GABA-A Receptor Agonists/pharmacokinetics , Humans , Hypoxia, Brain/chemically induced , Hypoxia, Brain/physiopathology , Male , Pyridines/administration & dosage , Pyridines/pharmacokinetics , Time Factors , Treatment Outcome , ZolpidemABSTRACT
Somatic symptoms are a common presentation of mental disorders or psychological distress worldwide, and may often coexist with depressive and anxiety symptoms, thus accounting for what might be the most frequent psychiatric syndrome in primary care. Indeed, physical symptoms accompanying the clinical presentations of a variety of mental disorders may be considered as universal 'idioms of distress' that may vary across cultures, depending on attitudes and explanations embedded in each one of them. These variations in symptom presentations are the result of various interacting factors that ultimately determine how individuals identify and classify bodily sensations, perceive illness, and seek medical attention. This chapter examines the impact of culture on the experiencing of somatic symptoms, based on an inclusive review of the topic from ethnic, nosological, clinical and social perspectives. Particular attention is paid to the association of somatic symptoms with mood symptoms, since depressive disorders appear to be the most common, costly and disabling psychiatric entities worldwide. The review shows that racial/ethnic variations in somatic symptoms in the context of depression are common, and seem to be related to depression severity. Sociocultural factors, particularly stigma, may influence the unique emphasis placed on somatic symptoms within depression, and may account for some racial/ethnic differences in somatic symptom reporting.
Subject(s)
Culture , Depressive Disorder , Mental Health/ethnology , Perception/physiology , Psychophysiologic Disorders , Cross-Cultural Comparison , Depressive Disorder/diagnosis , Depressive Disorder/ethnology , Depressive Disorder/physiopathology , Depressive Disorder/psychology , Diagnosis, Differential , Diagnostic and Statistical Manual of Mental Disorders , Humans , Psychophysiologic Disorders/diagnosis , Psychophysiologic Disorders/ethnology , Psychophysiologic Disorders/physiopathology , Psychophysiologic Disorders/psychology , Psychophysiology , Sickness Impact Profile , Somatoform Disorders/diagnosis , Somatoform Disorders/ethnology , Somatoform Disorders/physiopathology , Somatoform Disorders/psychology , Symptom AssessmentABSTRACT
Age-related macular degeneration (AMD) is the most common cause of blindness in Germany. Due to the demographic development a further increase of affected patients is to be expected. Improved understanding of AMD pathogenesis resulted from the molecular biological approaches in recent years and showed an association of genetic factors with AMD. The complement factor H gene and the second high-risk locus ARMS2 in particular were found to contribute a significant risk for development of the disease. Ageing and environmental factors, such as smoking, modulate the individual genetic risk profile. A detailed understanding of the complex AMD pathogenesis is also relevant in ophthalmological practice to understand new treatment strategies. In this review we aim to give an overview of the interplay of ageing, external environmental factors and genetic risk variants leading to AMD.
Subject(s)
Complement Factor H/genetics , Genetic Predisposition to Disease/genetics , Macular Degeneration/physiopathology , Polymorphism, Single Nucleotide/genetics , Smoking/genetics , HumansABSTRACT
PURPOSE: To evaluate the application of 488 and 514 nm fundus autofluorescence (FAF) and macular pigment optical density (MPOD) imaging in diabetic macular oedema (DMO) and to demonstrate the typical imaging features. PATIENTS AND METHODS: A hundred and twenty-five eyes of 71 consecutive patients with diabetic retinopathy who underwent examination at a specialist university clinic employing a modified Heidelberg Retina Angiograph, using two different light sources of 488 and 514 nm wavelength, were retrospectively reviewed. MPOD images were calculated using modified Heidelberg Eye Explorer software. All images were evaluated by two independent masked graders. Features from FAF and MPOD images were correlated with optical coherence tomography (OCT) imaging findings and inter-grader variability, sensitivity and specificity were calculated using OCT as reference. RESULTS: Sixty-seven eyes had DMO on OCT. The inter-grader variability was 0.84 for 488 nm FAF, 0.63 for 514 nm FAF and 0.79 for MPOD imaging. Sensitivity and specificity for detection of DMO were 80.6 and 89.7% for 488 nm FAF; 55.2 and 94.8% for 514 nm FAF; and 80.6 and 91.4% for MPOD imaging. In 488 nm FAF and MPOD imaging, DMO was better visualised in comparison with 514 nm FAF imaging, P<0.01. MPOD revealed displacement of macular pigment by intraretinal cysts. CONCLUSION: MPOD imaging, and particularly its combination with 488 nm and 514 nm FAF, provides a valuable addition to OCT in the evaluation of DMO and is clinically useful in rapid en-face assessment of the central macula.
Subject(s)
Densitometry , Diabetic Retinopathy/diagnosis , Macular Edema/diagnosis , Retinal Pigments/metabolism , Cross-Sectional Studies , Diabetic Retinopathy/metabolism , Female , Fluorescein Angiography , Humans , Lutein/metabolism , Macular Edema/metabolism , Male , Middle Aged , Observer Variation , Ophthalmoscopy , Retrospective Studies , Sensitivity and Specificity , Tomography, Optical Coherence , Xanthophylls/metabolism , ZeaxanthinsABSTRACT
Examination of the visual field using static automated perimetry (SAP) is the method of choice for the detection of functional damage secondary to glaucoma. However, with SAP early visual field defects might be missed even if there is already visible damage of the retinal nerve fibre. The microperimetry or beter fundus perimetry provides a detailed examination of the differential luminance threshold within defined retinal areas. However, in contrast to lesions of the retinal receptors, in cases of glaucomatous damage the retinal fibre course has to be considered resulting in a displacement between the structural lesion and the location of the related functional defect. The functional damage may be detected at earlier stages and with enhanced spatial resolution compared to conventional SAP. The extra costs and time associated with the application of fundus perimetry have prevented its widespread use. Current developments are leading to new options.
Subject(s)
Glaucoma/complications , Glaucoma/diagnosis , Vision Disorders/diagnosis , Vision Disorders/etiology , Visual Field Tests/methods , HumansSubject(s)
Diet Therapy/methods , Eyeglasses , Neuroprotective Agents/therapeutic use , Retinal Dystrophies/genetics , Retinal Dystrophies/therapy , Stem Cell Transplantation , Vision Disorders/genetics , Vision Disorders/prevention & control , Visual Prosthesis , Humans , Retinal Dystrophies/complications , Vision Disorders/rehabilitationABSTRACT
Genetic mutations are the cause of inherited retinal dystrophies. The underlying genetic basis of these diseases suggests that a gene therapy approach is logical either to replace or reduce the expression of defective genes. The first proof-of-concept clinical studies in patients with Leber's congenital amaurosis have suggested that retinal gene therapy is safe and potentially effective, at least for specific disease entities. In contrast to pharmacological treatment gene therapy has the advantage of being able to express a protein within specific cell populations and is a potentially definitive therapy. Besides replacing deficient genes in inherited diseases, additional strategies that might broaden the application of retinal gene therapy are also being developed. These include the permanent expression of neuroprotective substances or photosensitive molecules (so-called optogenetics). This overview discusses the current clinical strategies and potential problems of retinal gene therapy.
