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Turkish Thoracic Journal Mar 2022Chromosomal breakage syndromes are a group of genetic disorders that are ascribable to the autosomal recessive mode of inheritance. Xeroderma pigmentosum is one of the...
Chromosomal breakage syndromes are a group of genetic disorders that are ascribable to the autosomal recessive mode of inheritance. Xeroderma pigmentosum is one of the chromosomal breakage syndromes which is due to the involvement of deformity in the deoxyribonucleic acid's nucleotide excision repair. Xeroderma pigmentosum is a genetic disorder, which is autosomal recessive, heterogeneous, and more common in cases of consanguinity, caused by mutations in at least 10 genes and 9 complementation groups. The disorder is very rare. Patients experience photophobia and extreme photosensitivity and have pigmentary changes in ultraviolet light-exposed areas of the body with freckling, premalignant, and malignant skin lesions arising in keratinocytes soon after the fleeting exposure to sunlight. Patients are also oversensitive to environmental mutagens such as cigarette smoke and possibly to the widely used agricultural insecticide, diazinon. Progressive neurological abnormalities along with some rare complications are also noticed among these patients. Symptoms and thoracic high-resolution computed tomography are considered for diagnosis. Only corticosteroids can be given to limit the progression of the disease. Xeroderma pigmentosum-related interstitial lung disease is one of the rarest forms and we thereby report an interesting case.
PubMed: 35404252
DOI: 10.5152/TurkThoracJ.2022.20304 -
Cephalalgia : An International Journal... Nov 2019To review clinical and pre-clinical evidence supporting the role of visual pathways, from the eye to the cortex, in the development of photophobia in headache disorders. (Review)
Review
OBJECTIVE
To review clinical and pre-clinical evidence supporting the role of visual pathways, from the eye to the cortex, in the development of photophobia in headache disorders.
BACKGROUND
Photophobia is a poorly understood light-induced phenomenon that emerges in a variety of neurological and ophthalmological conditions. Over the years, multiple mechanisms have been proposed to explain its causes; however, scarce research and lack of systematic assessment of photophobia in patients has made the search for answers quite challenging. In the field of headaches, significant progress has been made recently on how specific visual networks contribute to photophobia features such as light-induced intensification of headache, increased perception of brightness and visual discomfort, which are frequently experienced by migraineurs. Such progress improved our understanding of the phenomenon and points to abnormal processing of light by both cone/rod-mediated image-forming and melanopsin-mediated non-image-forming visual pathways, and the consequential transfer of photic signals to multiple brain regions involved in sensory, autonomic and emotional regulation.
CONCLUSION
Photophobia phenotype is diverse, and the relative contribution of visual, trigeminal and autonomic systems may depend on the disease it emerges from. In migraine, photophobia could result from photic activation of retina-driven pathways involved in the regulation of homeostasis, making its association with headache more complex than previously thought.
Topics: Animals; Blindness; Brain Stem; Color; Headache; Humans; Light; Mesencephalon; Mice; Migraine Disorders; Photic Stimulation; Photophobia; Retinal Ganglion Cells; Retinal Rod Photoreceptor Cells; Rod Opsins; Somatosensory Cortex; Thalamus; Visual Pathways
PubMed: 29940781
DOI: 10.1177/0333102418784750 -
The Journal of Headache and Pain Aug 2023Given the similar presentation of migraine aura and acute ischemic stroke, advancing patient age might change the characteristics of migraine with aura (MA) and be...
AIM
Given the similar presentation of migraine aura and acute ischemic stroke, advancing patient age might change the characteristics of migraine with aura (MA) and be clinically important. Clinical data, however, are limited. Experimental studies indicate a decrease in the magnitude of cortical spreading depression (CSD), the pathophysiological correlate of migraine aura, with advancing age. Our study aimed to assess the influence of age on the clinical features of MA.
METHODS
Three hundred and forty-three patients were interviewed using a structured questionnaire. The questions covered the headache characteristics and symptom types including the characteristics of the C-criterion, as defined by the International Classification of Headache Disorders 3 Edition. The association of age with MA characteristics was assessed.
RESULTS
The median age was 29 (IQR 28-52) and 235 of the 343 patients were women (69%). Individual symptoms of the C-criterion such as gradual aura spreading over longer than 5 min (P < 0.001), two or more aura symptoms occurring in succession (P = 0.005), duration of at least one MA symptom for longer than 60 min (P = 0.004), and associated headache (P = 0.01) were more frequent in younger patients. The number of symptoms including the C-characteristics decreased with increasing age (P < 0.001). Patients with sensory (P < 0.001), motor (P = 0.004) and speech disturbance (P = 0.02) were younger, and older patients with headache had less photophobia (P = 0.04) and phonophobia (P = 0.03). Sensitivity analyses yielded similar results.
CONCLUSION
The frequency of typical characteristics of migraine aura and migraine headache including photophobia and phonophobia decreases with advancing patient age. This might have potentially difficult implications for the diagnosis of MA in the elderly.
Topics: Humans; Female; Aged; Adult; Male; Migraine with Aura; Ischemic Stroke; Hyperacusis; Photophobia; Migraine Disorders; Epilepsy; Headache
PubMed: 37528414
DOI: 10.1186/s10194-023-01642-w -
Cephalalgia : An International Journal... Nov 2019To review and discuss the literature on the role of thalamic structure and function in migraine. (Review)
Review
OBJECTIVE
To review and discuss the literature on the role of thalamic structure and function in migraine.
DISCUSSION
The thalamus holds an important position in our understanding of allodynia, central sensitization and photophobia in migraine. Structural and functional findings suggest abnormal functional connectivity between the thalamus and various cortical regions pointing towards an altered pain processing in migraine. Pharmacological nociceptive modulation suggests that the thalamus is a potential drug target.
CONCLUSION
A critical role for the thalamus in migraine-related allodynia and photophobia is well established. Additionally, the thalamus is most likely involved in the dysfunctional pain modulation and processing in migraine, but further research is needed to clarify the exact clinical implications of these findings.
Topics: Analgesics; Brain Mapping; Central Nervous System Sensitization; Cerebral Cortex; Connectome; Emotions; Humans; Hyperalgesia; Magnetic Resonance Imaging; Migraine Disorders; Neural Pathways; Nociception; Organ Size; Pain Perception; Photophobia; Positron-Emission Tomography; Proton Magnetic Resonance Spectroscopy; Thalamic Nuclei; Thalamus; Tomography, X-Ray Computed
PubMed: 30079744
DOI: 10.1177/0333102418791595 -
Cureus Jul 2020Vogt-Koyanagi-Harada (VKH) disease is a T-cell-mediated autoimmune inflammatory disease characterized by granulomatous panuveitis with a variety of other systemic...
Vogt-Koyanagi-Harada (VKH) disease is a T-cell-mediated autoimmune inflammatory disease characterized by granulomatous panuveitis with a variety of other systemic manifestations. A 29-year-old man referred with a two-week history of pain, redness, photophobia, and blurring of vision of the right eye. The patient reported a history of tinnitus and vertigo. Ocular examination revealed that the visual acuity was hand movement oculus dextrus (OD) and 1.0 oculus sinister (OS), slight periocular depigmentation in the right eye, iris bombe in the right eye, sunset glow sign similar to Dalen-Fuchs nodules of multifocal choroiditis in the right eye, reduced fovea reflex/subtle macular edema in the right eye, and normal anterior and posterior segment OS. The patient underwent a series of investigations and treatments, including corticosteroids, cyclosporine, antibiotics, and other local eye drugs. Surgical treatment included scheduling intravitreal ranibizumab for the right eye. Outcomes included improved general health conditions and improved visual condition (visual acuity improved to 0.8 OD). The combined therapy of immunosuppressive drugs with steroids was effective in improving visual impairment.
PubMed: 32789066
DOI: 10.7759/cureus.9125 -
PloS One 2022Cataract surgery impinges on the spatial properties and wavelength distribution of retinal images, which changes the degree of light-induced visual...
Cataract surgery impinges on the spatial properties and wavelength distribution of retinal images, which changes the degree of light-induced visual discomfort/photophobia. However, no study has analyzed the alteration in photophobia before and after cataract surgery or the association between retinal spatial property and photophobia. Here, we measured the higher-order aberrations (HOAs) of the entire eye and the subjective photophobia score. This study investigated 71 eyes in 71 patients who received conventional cataract surgery. Scaling of photophobia was based on the following grading system: when the patient is outdoor on a sunny day, score of 0 and 10 points were assigned to the absence of photophobia and the presence of severe photophobia prevents eye-opening, respectively. We decomposed wavefront errors using Zernike polynomials for a 3-mm pupil diameter and analyzed the association between photophobia scores and HOAs with Spearman's rank sum correlation (rs). We classified patients into two groups: photophobia (PP) unconcerned included patients who selected 0 both preoperatively or postoperatively and PP concerned included the remaining patients. After cataract surgery, photophobia scores increased, remained unchanged (stable), and decreased in 3, 41, and 27 cases, respectively. In the stable group, 35 of 41 cases belonged to PP unconcerned. In PP concerned, there were significant correlations between photophobia score and postoperative root-mean-square values of total HOAs (rs = 0.52, p = 0.002), total coma (rs = 0.52, p = 0.002), total trefoil (rs = 0.47, p = 0.006), and third-order group (rs = 0.53, p = 0.002). In contrast, there was no significant correlation between photophobia scores and preoperative HOAs. Our results suggest that the spatial properties of retinal image modified by HOAs may affect the degree of photophobia. Scattering light due to cataracts could contribute to photophobia more than HOAs, which may mask the effect of HOAs for photophobia preoperatively.
Topics: Cataract; Eye; Humans; Photophobia; Vision Disorders
PubMed: 36107829
DOI: 10.1371/journal.pone.0274705 -
Alzheimer's Research & Therapy Jul 2022Isolated subjective cognitive impairment (SCI) and mild cognitive impairment (MCI) are the prodromal phases of dementia with Lewy bodies (DLB). MEMENTO is a nationwide...
BACKGROUND
Isolated subjective cognitive impairment (SCI) and mild cognitive impairment (MCI) are the prodromal phases of dementia with Lewy bodies (DLB). MEMENTO is a nationwide study of patients with SCI and MCI with clinic, neuropsychology, biology, and brain imaging data. We aimed to compare SCI and MCI patients with symptoms of prodromal DLB to others in this study at baseline.
METHODS
Participants of the French MEMENTO cohort study were recruited for either SCI or MCI. Among them, 892 were included in the Lewy sub-study, designed to search specifically for symptoms of DLB. Probable prodromal DLB diagnosis (pro-DLB group) was done using a two-criteria cutoff score among the four core clinical features of DLB. This Pro-DLB group was compared to two other groups at baseline: one without any core symptoms (NS group) and the one with one core symptom (1S group). A comprehensive cognitive battery, questionnaires on behavior, neurovegetative and neurosensory symptoms, brain 3D volumetric MRI, CSF, FDG PET, and amyloid PET were done.
RESULTS
The pro-DLB group comprised 148 patients (16.6%). This group showed more multidomain (59.8%) MCI with slower processing speed and a higher proportion of patients with depression, anxiety, apathy, constipation, rhinorrhea, sicca syndrome, and photophobia, compared to the NS group. The pro-DLB group had isolated lower P-Tau in the CSF (not significant after adjustments for confounders) and on brain MRI widening of sulci including fronto-insular, occipital, and olfactory sulci (FDR corrected), when compared to the NS group. Evolution to dementia was not different between the three groups over a median follow-up of 2.6 years.
CONCLUSIONS
Patients with symptoms of prodromal DLB are cognitively slower, with more behavioral disorders, autonomic symptoms, and photophobia. The occipital, fronto-insular, and olfactory bulb involvement on brain MRI was consistent with symptoms and known neuropathology. The next step will be to study the clinical, biological, and imaging evolution of these patients.
TRIAL REGISTRATION
Clinicaltrials.gov , NCT01926249.
Topics: Alzheimer Disease; Cognitive Dysfunction; Cohort Studies; Humans; Lewy Body Disease; Photophobia; Prodromal Symptoms
PubMed: 35854388
DOI: 10.1186/s13195-022-01037-0 -
Neurologia 2023Photophobia is a symptom of abnormal light intolerance without pain sensation that requires an anamnesis and an examination to diagnose an underlying etiology. (Review)
Review
INTRODUCTION
Photophobia is a symptom of abnormal light intolerance without pain sensation that requires an anamnesis and an examination to diagnose an underlying etiology.
BASIC PROCEDURE
This article focuses on 30 clinical cases with isolated intense photophobia and on the review of the literature.
OBJECTIVE
The purpose of this article is to establish diagnostic criteria for photophobia.
RESULTS
The etiology of photophobia appears to be at the level of the intrinsically photosensitive retinal ganglion cells known as melanopsin cells and at a neurochemical level mediated by calcitonin-related peptide and the pituitary activating peptide cyclase.
CONCLUSION
The treatment of photophobia could consist of monoclonal antibodies against calcitonin-related peptide and/or pituitary activating peptide cyclase.
Topics: Humans; Photophobia; Calcitonin; Migraine Disorders; Rod Opsins; Retinal Ganglion Cells
PubMed: 35842130
DOI: 10.1016/j.nrleng.2020.12.004