RESUMEN
Age-related macular degeneration (AMD) is currently the leading cause of vision loss in the elderly population worldwide. Despite the experience of using physiotherapeutic methods of treatment for non-exudative form of age-related macular degeneration, as well as the lack of clear criteria for its indication and evaluation of its effectiveness, the question of its advisability remains open. PURPOSE: Evaluation of the effectiveness of rehabilitation complex involving physiotherapy in the form of infrared and magnetic stimulation of the retina, aerogenation with Heliox21 and dry needling in patients with non-exudative AMD (drusen). MATERIAL AND METHODS: The study included 84 patients (168 eyes), among them 50 men and 74 women with stage 1 non-exudative AMD, aged 60 to 70 years old (average age 60±3.7 years), who were divided into 2 groups with comparable clinical and functional characteristics. Group 1 included 42 patients (84 eyes) who underwent ophthalmic neurostimulation consisting of daily infrared-magnetic stimulation of the retina for 10 days, 10 procedures of daily aerogenation with Heliox21 and 10 daily procedures of acupuncture. Group 2 included 42 patients (84 eyes) who received only basic parenteral therapy (Nutrof forte 1 tablet per day during the entire observation period), which was also the medication background in the main group. Visual acuity (VA), retinal OCT parameters, local photosensitivity and bioelectrical potential indices were assessed with mfERG. The control time points were before therapy, after 2 weeks, 3 months, 6 months and 12 months. RESULTS: After undergoing therapy with the described physiotherapeutic regimen, a positive effect on functional characteristics was noted - the level of light sensitivity of the central zone of the retina and the amplitude of the electrical biopotential have improved. The indicators of maximally corrected visual acuity and the structure of the ellipsoidal zone of the retina and the choroid did not change during the entire observation period. CONCLUSION: In patients with non-exudative form of AMD the developed ophthalmic rehabilitation complex involving infrared-magnetic stimulation of the retina, aerogenation with Heliox21 and dry needling promotes improvement of functional characteristics of the central retina in the form of increased maximal light sensitivity of the central retinal area and increased amplitude of bio-electrical potential.
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Degeneración Macular , Fotofobia , Masculino , Humanos , Anciano , Femenino , Persona de Mediana Edad , Fotofobia/complicaciones , Degeneración Macular/diagnóstico , Degeneración Macular/terapia , Retina , Agudeza Visual , Modalidades de Fisioterapia/efectos adversos , Tomografía de Coherencia Óptica/métodosRESUMEN
Optical neuropathies (ON) are the outcome of many diseases of various origins. The main ones are classified as inflammatory, vascular and traumatic ON. ON lead to subatrophy of the optic nerve, but even after the completion of treatment, it is possible to improve visual functions by using physiotherapeutic means of ophthalmic rehabilitation. OBJECTIVE: To evaluate the effectiveness of complex physiotherapeutic neuro-ophthalmostimulation in case of ON of vascular origin. MATERIAL AND METHODS: The study included 60 patients (120 eyes) with a verified diagnosis of optic neuropathy of vascular origin, who were divided into 2 groups comparable in age, gender and anatomical and functional characteristics: the main group of 30 patients (60 eyes) and the control group - 30 patients (60 eyes), including 24 men and 36 women, mean age was 66.2±4.1 years, disease duration was 4.1±1.7 years. All patients underwent courses of conservative treatment with vitamins according to the available ophthalmological standards, repeating them 1-2 times a year, the last of which was six months before the present study. Physiotherapy courses and patients did not pass. 20 healthy volunteers were taken to create basic indicators of the «norm¼ of the applied research methods. Patients of the main group used a set of procedures: transcranial magnetic electrical stimulation, endonasal electrophoresis with the drug neuroprotector Semax 0.1%, oxybaric chamber and acupuncture. Patients in the control group were prescribed basic therapy, including taking the vitamin complex BEROCCA for 3 months. Breakpoints: before treatment and at times: 1st week, 12 weeks and 24 weeks after the course of treatment, according to the standard recommendations for international multicenter studies. The following were assessed: visual field boundaries (dilation meridians; in deg.), light sensitivity (MS, MD; in dB), indicators of the state of the retinal ganglion layer (GCS thickness, volume loss): Avg CCG (in µm), FLV, GLV (in %). RESULTS: When evaluating the results in patients of the main group who received complex neurostimulation, the therapeutic efficacy in a week after the end of treatment was 94%, in 12 weeks - in 88% and in 24 weeks - 83%, while in patients of the control group for all studied indicators showed only a positive trend and therapeutic efficacy did not exceed 30-42%. CONCLUSION: Under the influence of the developed neurostimulating complex, the activity of nerve cells objectively increases, leading to a significant increase in the boundaries of the field of view and light sensitivity and a decrease in global losses of the retinal ganglion complex and optic nerve.
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Fibras Nerviosas , Tomografía de Coherencia Óptica , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fotofobia , Células Ganglionares de la Retina , Tomografía de Coherencia Óptica/métodos , Campos VisualesRESUMEN
BACKGROUND: The hypothalamus plays a central role in the pathophysiology of migraine and is considered to be the "migraine generator." It participates in initiating a migraine attack through its connectivity to regions of the brain involved in processing and modulating pain. However, the underlying mechanisms of hypothalamic effective functional connectivity that bring about migraines remain unclear. This study investigated the hypothalamus-based directional effective connectivity in migraine without aura patients and assessed associations among the clinical characteristics. METHODS: Seven patients with migraine without aura during the attack (MWoA-DA) (four with photophobia (MWoA-DAWP) and three without photophobia (MWoA-DAWoP)), twenty-seven patients with migraine without aura during the interictal period (MWoA-DI), and twenty-nine healthy controls (HC) were included in this study. Granger causality analysis (GCA) was used to investigate the directional effective connectivity between the hypothalamus and other brain regions. RESULTS: MWoA-DA patients exhibited decreased outflow from the bilateral hypothalamus to the visual cortex compared with the MWoA-DI patients and HCs. The MWoA-DAWP group primarily contributed to this result. The MWoA-DA patients showed decreased outflow from the bilateral hypothalamus to the right inferior parietal gyrus compared with the HCs. The visual analogue scale (VAS) was negatively correlated with abnormal effective functional connectivity from the right hypothalamus to the right inferior parietal gyrus in the MWoA-DA group. CONCLUSIONS: These data provide evidence that the hypothalamus might serve as a central component of a multisystem network implicated in migraine and ictal photophobia, which includes hypothalamus and the visual and trigeminovascular systems.
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Migraña sin Aura , Encéfalo/diagnóstico por imagen , Humanos , Hipotálamo/diagnóstico por imagen , Imagen por Resonancia Magnética , FotofobiaRESUMEN
INTRODUCTION: Blepharospasm is a type of focal dystonia and categorized into primary and secondary forms, based on whether or not a cause can be established. Secondary blepharospasm is uncommon and can be associated with underlying brain lesions. Photophobia is a prominent complaint in blepharospasm patients. We are reporting a case of secondary blepharospasm with photophobia in a patient who had underlying midbrain tuberculoma and thalamic infarcts. This type of presentation has not been reported to the best of our knowledge. CASE REPORT: A 26-year-old man presented to us with the complaint of increased blinking and involuntary closure of both eyes for 1 year. He had a past history of tubercular meningitis 16 years back when he presented with bilateral ptosis, left up gaze palsy and right hemiparesis suggestive of Weber syndrome. His magnetic resonance images of the brain were suggestive of multiple intracranial tuberculomas, thalamic infarcts, and noncommunicating hydrocephalus. Following treatment he recovered significantly with no residual neurological deficit except mild bilateral ptosis. His recent magnetic resonance images of the brain was suggestive of calcified granuloma in the midbrain and chronic left thalamic lacunar infarcts. He was treated with injection Onabotulinum toxin and his symptoms improved significantly. CONCLUSIONS: Our patient had tuberculoma in the midbrain and chronic infarcts in the thalamus, and both lesions may cause blepharospasm and photophobia independently, so it is difficult to ascertain the causative lesion in our patient. However, it is possible that these heterogenous lesions are all part of a single functionally connected brain network and further studies are required to confirm this hypothesis.
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Blefaroespasmo/patología , Infarto Encefálico/patología , Mesencéfalo/patología , Fotofobia/patología , Tálamo/patología , Tuberculoma Intracraneal/complicaciones , Adulto , Blefaroespasmo/diagnóstico por imagen , Blefaroespasmo/etiología , Infarto Encefálico/complicaciones , Infarto Encefálico/diagnóstico por imagen , Humanos , Masculino , Mesencéfalo/diagnóstico por imagen , Fotofobia/diagnóstico por imagen , Fotofobia/etiología , Tálamo/irrigación sanguínea , Tálamo/diagnóstico por imagenRESUMEN
BACKGROUND: The American Registry for Migraine Research (ARMR) is a multicenter, prospective, longitudinal patient registry, biorepository, and neuroimaging repository that collects clinical data, electronic health record (EHR) data, blood samples, and brain imaging data from individuals with migraine or other headache types. In this manuscript, we outline ARMR research methods and report baseline data describing an initial cohort of ARMR participants. METHODS: Adults with any International Classification of Headache Disorders (ICHD) diagnosis were prospectively enrolled from one of the 8 participating headache specialty centers. At baseline, ARMR participants complete web-based questionnaires, clinicians enter the participant's ICHD diagnoses, an optional blood specimen is collected, and neuroimaging data are uploaded to the ARMR neuroimaging repository. Participants maintain the ARMR daily headache diary longitudinally and follow-up questionnaires are completed by participants every 3 months. EHR data are integrated into the ARMR database from a subset of ARMR sites. Herein, we describe the ARMR methodology and report the summary data from ARMR participants who had, from February 2016 to May 2019, completed at least 1 baseline questionnaire from which data are reported in this manuscript. Descriptive statistics are used to provide an overview of patient's sociodemographics, headache diagnoses, headache characteristics, most bothersome symptoms other than headache, headache-related disability, comorbidities, and treatments. RESULTS: Data were available from 996 ARMR participants, enrolled from Mayo Clinic Arizona, Dartmouth-Hitchcock Medical Center, University of Utah, University of Colorado, Thomas Jefferson University, University of Texas Health Science Center at Houston, Georgetown University Medical Center, and DENT Neurological Institute. Among ARMR participants, 86.7% (n = 864) were female and the mean age at the time of enrollment was 48.6 years (±13.9; range 18-84). The most common provider-reported diagnosis was chronic migraine (n = 622), followed by migraine without aura (n = 327), migraine with aura (n = 196), and medication overuse headache (n = 65). Average headache frequency was 19.1 ± 9.2 days per month (n = 751), with 68% reporting at least 15 headache days per month. Sensitivity to light was the most frequent (n = 222) most bothersome symptom overall, other than headache, but when present, cognitive dysfunction was most frequently (n = 157) the most bothersome symptom other than headache. Average migraine disability assessment (MIDAS) score was 52 ± 49 (n = 760), (very severe headache-related disability); however, 17% of the ARMR population had MIDAS scores suggesting "no" or "mild" disability. The most common non-headache health issues were allergies (n = 364), back pain (n = 296), neck pain (n = 296), depression (n = 292), and anxiety (n = 278). Nearly 85% (n = 695) of patients were using preventive medications and 24.7% were using non-medication preventive therapy (eg, vitamins and neuromodulation). The most common preventive medication classes were neurotoxins, anticonvulsants, antidepressants, vitamins/supplements, and anticalcitonin gene-related peptide ligand or receptor-targeted monoclonal antibodies. Nearly 90% (n = 734) of ARMR participants was taking medications to treat migraine attacks, with the most common classes being triptans, non-steroidal anti-inflammatory drugs, antiemetics, acetaminophen, and combination analgesics. CONCLUSIONS: ARMR is a source of real-world patient data, biospecimens, and brain neuroimaging data that provides comprehensive insight into patients with migraine and other headache types being seen in headache specialty clinics in the United States. ARMR data will allow for longitudinal and advanced analytics that are expected to lead to a better characterization of patient heterogeneity, healthcare resource utilization, identification of endophenotypes, factors that predict treatment outcomes and clinical course, and ultimately advance the field toward precision headache medicine.
Asunto(s)
Bases de Datos Factuales/estadística & datos numéricos , Cefaleas Secundarias , Migraña con Aura , Migraña sin Aura , Sistema de Registros/estadística & datos numéricos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Bancos de Muestras Biológicas/estadística & datos numéricos , Disfunción Cognitiva/etiología , Disfunción Cognitiva/fisiopatología , Femenino , Cefaleas Secundarias/complicaciones , Cefaleas Secundarias/fisiopatología , Cefaleas Secundarias/terapia , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Migraña con Aura/complicaciones , Migraña con Aura/fisiopatología , Migraña con Aura/terapia , Migraña sin Aura/complicaciones , Migraña sin Aura/fisiopatología , Migraña sin Aura/terapia , Neuroimagen/estadística & datos numéricos , Fotofobia/etiología , Fotofobia/fisiopatología , Autoinforme , Índice de Severidad de la Enfermedad , Adulto JovenRESUMEN
AIM: To describe neuronal networks underlying commonly reported migraine premonitory symptoms and to discuss how these might precipitate migraine pain. BACKGROUND: Migraine headache is frequently preceded by a distinct and well characterized premonitory phase including symptoms like yawning, sleep disturbances, alterations in appetite and food intake and hypersensitivity to certain external stimuli. Recent neuroimaging studies strongly suggest the hypothalamus as the key mediator of the premonitory phase and also suggested alterations in hypothalamic networks as a mechanism of migraine attack generation. When looking at the vast evidence from basic research within the last decades, hypothalamic and thalamic networks are most likely to integrate peripheral influences with central mechanisms, facilitating the precipitation of migraine headaches. These networks include sleep, feeding and stress modulating centers within the hypothalamus, thalamic pathways and brainstem centers closely involved in trigeminal pain processing such as the spinal trigeminal nucleus and the rostral ventromedial medulla, all of which are closely interconnected. CONCLUSION: Taken together, these networks represent the pathophysiological basis for migraine premonitory symptoms as well as a possible integration site of peripheral so-called "triggers" with central attack facilitating processes.
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Migraña sin Aura/fisiopatología , Síntomas Prodrómicos , Afecto , Apetito/fisiología , Tronco Encefálico/fisiopatología , Ritmo Circadiano/fisiología , Ansia/fisiología , Ingestión de Alimentos , Homeostasis , Humanos , Migraña sin Aura/complicaciones , Migraña sin Aura/etiología , Migraña sin Aura/psicología , Red Nerviosa/fisiopatología , Neuroimagen , Neurotransmisores/fisiología , Óxido Nítrico/fisiología , Fotofobia/etiología , Fotofobia/fisiopatología , Estimulación Física/efectos adversos , Fases del Sueño/fisiología , Núcleo Supraquiasmático/fisiopatología , Tálamo/fisiopatologíaRESUMEN
BACKGROUND: The clinical picture, but also neuroimaging findings, suggested the brainstem and midbrain structures as possible driving or generating structures in migraine. FINDINGS: This has been intensely discussed in the last decades and the advent of modern imaging studies refined the involvement of rostral parts of the pons in acute migraine attacks, but more importantly suggested a predominant role of the hypothalamus and alterations in hypothalamic functional connectivity shortly before the beginning of migraine headaches. This was shown in the NO-triggered and also in the preictal stage of native human migraine attacks. Another headache type that is clinically even more suggestive of hypothalamic involvement is cluster headache, and indeed a structure in close proximity to the hypothalamus has been identified to play a crucial role in attack generation. CONCLUSION: It is very likely that spontaneous oscillations of complex networks involving the hypothalamus, brainstem, and dopaminergic networks lead to changes in susceptibility thresholds that ultimately start but also terminate headache attacks. We will review clinical and neuroscience evidence that puts the hypothalamus in the center of scientific attention when attack generation is discussed.
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Cefalea/fisiopatología , Hipotálamo/fisiopatología , Sistema Nervioso Autónomo/fisiopatología , Tronco Encefálico/fisiopatología , Ansia/fisiología , Dopamina/fisiología , Emociones , Sistema Endocrino/fisiopatología , Humanos , Trastornos Migrañosos/diagnóstico por imagen , Trastornos Migrañosos/fisiopatología , Óxido Nítrico/fisiología , Nocicepción/fisiología , Percepción del Dolor/fisiología , Fotofobia/fisiopatología , Síntomas ProdrómicosRESUMEN
BACKGROUND: Photophobia is commonly associated with migraine, meningitis, concussion, and a variety of ocular diseases. Advances in our ability to trace multiple brain pathways through which light information is processed have paved the way to a better understanding of the neurobiology of photophobia and the complexity of the symptoms triggered by light. PURPOSE: The purpose of this review is to summarize recent anatomical and physiological studies on the neurobiology of photophobia with emphasis on migraine. RECENT FINDINGS: Observations made in blind and seeing migraine patients, and in a variety of animal models, have led to the discovery of a novel retino-thalamo-cortical pathway that carries photic signal from melanopsinergic and nonmelanopsinergic retinal ganglion cells (RGCs) to thalamic neurons. Activity of these neurons is driven by migraine and their axonal projections convey signals about headache and light to multiple cortical areas involved in the generation of common migraine symptoms. Novel projections of RGCs into previously unidentified hypothalamic neurons that regulate parasympathetic and sympathetic functions have also been discovered. Finally, recent work has led to a novel understanding of color preference in migraine-type photophobia and of the roles played by the retina, thalamus, and cortex. SUMMARY: The findings provide a neural substrate for understanding the complexity of aversion to light in patients with migraine and neuro-ophthalmologic other disorders.
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Corteza Cerebral/fisiopatología , Trastornos Migrañosos/complicaciones , Vías Nerviosas/fisiopatología , Fotofobia/etiología , Células Ganglionares de la Retina/fisiología , Tálamo/fisiopatología , Animales , Humanos , Trastornos Migrañosos/fisiopatología , Fotofobia/fisiopatologíaRESUMEN
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.
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Sensibilización del Sistema Nervioso Central/fisiología , Trastornos Migrañosos/fisiopatología , Analgésicos/farmacología , Analgésicos/uso terapéutico , Mapeo Encefálico , Corteza Cerebral/fisiopatología , Conectoma , Emociones/fisiología , Humanos , Hiperalgesia/etiología , Hiperalgesia/fisiopatología , Imagen por Resonancia Magnética , Trastornos Migrañosos/complicaciones , Trastornos Migrañosos/diagnóstico por imagen , Trastornos Migrañosos/patología , Vías Nerviosas/fisiopatología , Nocicepción/fisiología , Tamaño de los Órganos , Percepción del Dolor/fisiología , Fotofobia/etiología , Fotofobia/fisiopatología , Tomografía de Emisión de Positrones , Espectroscopía de Protones por Resonancia Magnética , Núcleos Talámicos/fisiopatología , Tálamo/diagnóstico por imagen , Tálamo/efectos de los fármacos , Tálamo/patología , Tálamo/fisiopatología , Tomografía Computarizada por Rayos XRESUMEN
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.
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Cefalea/fisiopatología , Fotofobia/fisiopatología , Vías Visuales/fisiopatología , Animales , Ceguera/fisiopatología , Tronco Encefálico/fisiopatología , Color , Cefalea/complicaciones , Humanos , Luz/efectos adversos , Mesencéfalo/fisiopatología , Ratones , Trastornos Migrañosos/complicaciones , Trastornos Migrañosos/fisiopatología , Estimulación Luminosa/efectos adversos , Fotofobia/etiología , Células Ganglionares de la Retina/fisiología , Células Fotorreceptoras Retinianas Bastones/fisiología , Células Fotorreceptoras Retinianas Bastones/efectos de la radiación , Opsinas de Bastones/fisiología , Corteza Somatosensorial/fisiopatología , Tálamo/fisiopatologíaRESUMEN
No disponible
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Humanos , Femenino , Niño , Adulto , Fotofobia/complicaciones , Fotofobia/diagnóstico , Retina/lesiones , Tálamo/diagnóstico por imagen , Traumatismos del Nervio Óptico/diagnóstico por imagen , Quiasma Óptico/diagnóstico por imagen , Quiasma Óptico/lesiones , Tálamo/lesiones , Imagen por Resonancia Magnética/métodos , Resonancia Magnética Nuclear Biomolecular/métodos , Corteza Prefrontal/lesionesRESUMEN
INTRODUCTION: "Dry eye" or "keratoconjunctivitis sicca" is a multifactorial disease estimated to have a worldwide prevalence of 5-33%. Conventional therapies targeting the ocular surface with artificial tears, anti-inflammatories, punctal closure, eyelid hygiene, and antibiotics do not provide relief in all patients, especially those with neuropathic-like ocular complaints (wind hyperalgesia and photophobia). We anticipated that ocular transcutaneous electrical nerve stimulation (TENS) would alleviate symptoms of ocular pain, photophobia, and dryness in these latter individuals. METHODS: All individuals who received electrical stimulation between May 10, 2016 and April 6, 2017 for the treatment of chronic ocular pain at the oculofacial pain clinic of the Miami Veterans Administration Hospital were included in this retrospective review. All patients had symptoms of dryness along with other neuropathic-like symptoms (e.g., photophobia) and minimal signs of tear dysfunction. Ocular pain intensity, symptoms of dryness, and light sensitivity were compared pre-treatment and five min post-treatment via a two-tailed paired Student's t-test. RESULTS: The use of TENS significantly reduced the mean pain intensity in both the right and left eyes five min after treatment compared to prior to treatment (p < 0.05, paired t-test). The use of TENS significantly decreased light sensitivity in both eyes (p < 0.05). The findings for symptoms of dryness, however, were equivocal with a significant decrease in the left eye but not the right (p < 0.05, paired t-test). DISCUSSION: Our data indicate that TENS may similarly provide analgesia in patients with dry eye symptoms as it does for many other chronic pain conditions. Furthermore, the noted effect on symptoms of photophobia and dryness suggest that all may be linked by similar trigeminal-thalamic-cortical pathways. Prospective studies with electrical stimulation of dry eye are needed to further elucidate its benefit and mechanism of action.
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Dolor Crónico/terapia , Dolor Ocular/terapia , Queratoconjuntivitis Seca/terapia , Manejo del Dolor/métodos , Fotofobia/terapia , Adulto , Anciano , Dolor Crónico/etiología , Femenino , Humanos , Queratoconjuntivitis Seca/complicaciones , Masculino , Persona de Mediana Edad , Dolor/etiología , Fotofobia/etiología , Estudios Retrospectivos , Estimulación Eléctrica Transcutánea del NervioRESUMEN
Syndromic ichthyosis is rare inherited disorders of cornification with varied disease complications. This disorder appears in seventeen subtypes associated with severe systematic manifestations along with medical, cosmetic and social problems. Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome. These syndromes mostly prevail in high consanguinity states, with distinctive clinical features. The known pathogenic molecules involved in ichthyosis syndromes with prominent hair abnormalities include SPINK5, ERCC2, ERCC3, GTF2H5, MPLKIP, ST14, CLDN1 and MBTPS2. Despite underlying genetic origin, most of the health professionals solely rely on phenotypic expression of these disorders that leads to improper management of patients, hence making these patients living an orphanage life. After dermal features, association of other systems such as nervous system, skeletal system, hair abnormalities or liver problems may sometimes give clues for diagnosis but still leaving place for molecular screening for efficient diagnosis. In this paper, we have presented a review of ichthyosis syndrome with prominent hair abnormalities, with special emphasis on their updated genetic consequences and disease management. Additionally, we aim to update health professionals about the practice of molecular screening in ichthyosis syndromes for appropriate diagnosis and treatment.
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Enfermedades del Cabello/terapia , Cabello/anomalías , Ictiosis/terapia , Fotofobia/terapia , Enfermedades Raras/terapia , Consanguinidad , Fármacos Dermatológicos/uso terapéutico , Exoma/genética , Pruebas Genéticas/métodos , Enfermedades del Cabello/diagnóstico , Enfermedades del Cabello/etiología , Enfermedades del Cabello/mortalidad , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Ictiosis/diagnóstico , Ictiosis/etiología , Ictiosis/mortalidad , Mutación , Fenotipo , Fotofobia/diagnóstico , Fotofobia/etiología , Fotofobia/mortalidad , Fototerapia/métodos , Enfermedades Raras/diagnóstico , Enfermedades Raras/etiología , Enfermedades Raras/mortalidad , SíndromeRESUMEN
Migraineurs avoid light because it intensifies their headache. However, this is not the only reason for their aversion to light. Studying migraineurs and control subjects, we found that lights triggered more changes in autonomic functions and negative emotions during, rather than in the absence of, migraine or in control subjects, and that the association between light and positive emotions was stronger in control subjects than migraineurs. Seeking to define a neuroanatomical substrate for these findings, we showed that, in rats, axons of retinal ganglion cells converge on hypothalamic neurons that project directly to nuclei in the brainstem and spinal cord that regulate parasympathetic and sympathetic functions and contain dopamine, histamine, orexin, melanin-concentrating hormone, oxytocin, and vasopressin. Although the rat studies define frameworks for conceptualizing how light triggers the symptoms described by patients, the human studies suggest that the aversive nature of light is more complex than its association with headache intensification.
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Hipotálamo/fisiología , Luz , Trastornos Migrañosos/fisiopatología , Neuronas/fisiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Animales , Sistema Nervioso Autónomo/fisiología , Estudios de Casos y Controles , Color , Emociones , Femenino , Humanos , Masculino , Persona de Mediana Edad , Modelos Neurológicos , Fotofobia , Ratas , Ratas Sprague-Dawley , Retina/fisiología , Sistema Nervioso Simpático/fisiología , Adulto JovenRESUMEN
The complex pathophysiology involved in migraine necessitates the drug treatment to act on several receptors simultaneously. The present investigation was an attempt to discover the unidentified anti-migraine activity of the already marketed drugs. Shared featured pharmacophore modeling was employed for this purpose on six target receptors (ß2 adrenoceptor, Dopamine D3, 5HT1B, TRPV1, iGluR5 kainate and CGRP), resulting in the generation of five shared featured pharmacophores, which were further subjected to virtual screening of the ligands obtained from Drugbank database. Molecular docking, performed on the obtained hit compounds from virtual screening, indicated nystatin to be the only active lead against the receptors iGluR5 kainate receptor (1VSO), CGRP (3N7R), ß2 adrenoceptor (3NYA) and Dopamine D3 (3PBL) with a high binding energy of -11.1, -10.9, -10.2 and -12kcal/mole respectively. The anti-migraine activity of nystatin was then adjudged by fabricating its brain targeted chitosan nanoparticles. Its brain targeting efficacy, analyzed qualitatively by confocal laser scanning microscopy, demonstrated a significant amount of drug reaching the brain. The pharmacodynamic models on Swiss male albino mice revealed significant anti-migraine activity of the nanoformulation. The present study reports for the first time the therapeutic potential of nystatin in migraine management, hence opening avenues for its future exploration.
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Encéfalo/efectos de los fármacos , Quitosano/química , Portadores de Fármacos/química , Trastornos Migrañosos/tratamiento farmacológico , Nanopartículas/química , Nistatina/química , Nistatina/farmacología , Animales , Bradiquinina/farmacología , Encéfalo/metabolismo , Evaluación Preclínica de Medicamentos , Liberación de Fármacos , Aseo Animal/efectos de los fármacos , Hiperalgesia/complicaciones , Masculino , Ratones , Trastornos Migrañosos/complicaciones , Trastornos Migrañosos/metabolismo , Simulación del Acoplamiento Molecular , Terapia Molecular Dirigida , Nistatina/metabolismo , Nistatina/uso terapéutico , Tamaño de la Partícula , Fotofobia/inducido químicamente , Fotofobia/complicaciones , Conformación Proteica , Programas InformáticosRESUMEN
Epidemic keratoconjunctivitis is the most common type of infectious conjunctivitis, and is caused by adenoviruses. The mode of transmission is mainly through direct contact with ocular secretions. Epidemic keratoconjunctivitis is generally diagnosed based on a patient's clinical features, and additional measures, such as cell cultures, polymerase chain reaction, and rapid antigen detection tests, can further confirm the diagnosis. The most common symptoms include a foreign body sensation, tearing, and photophobia. The symptoms are usually expressed unilaterally in the initial phase, but gradually become bilateral. Frequently occurring complications include pseudomembrane formation and subepithelial infiltrates. Currently, no antiviral agent has been proven effective to alter the natural course of the disease, and treatment merely has a supportive role instead of a curative role. Therefore, preventive measures in medical offices and in the community are the most important methods of controlling the propagation of this disease.
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Humanos , Adenoviridae , Infecciones por Adenovirus Humanos , Técnicas de Cultivo de Célula , Conjuntivitis , Conjuntivitis Viral , Diagnóstico , Cuerpos Extraños , Queratoconjuntivitis , Fotofobia , Reacción en Cadena de la Polimerasa , Sensación , LágrimasRESUMEN
Migraine headache is uniquely exacerbated by light. Using psychophysical assessments in patients with normal eyesight we found that green light exacerbates migraine headache significantly less than white, blue, amber or red lights. To delineate mechanisms, we used electroretinography and visual evoked potential recording in patients, and multi-unit recording of dura- and light-sensitive thalamic neurons in rats to show that green activates cone-driven retinal pathways to a lesser extent than white, blue and red; that thalamic neurons are most responsive to blue and least responsive to green; and that cortical responses to green are significantly smaller than those generated by blue, amber and red lights. These findings suggest that patients' experience with colour and migraine photophobia could originate in cone-driven retinal pathways, fine-tuned in relay thalamic neurons outside the main visual pathway, and preserved by the cortex. Additionally, the findings provide substrate for the soothing effects of green light.
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Electrorretinografía/métodos , Potenciales Evocados Visuales/fisiología , Trastornos Migrañosos/fisiopatología , Neuronas/fisiología , Fotofobia/fisiopatología , Células Fotorreceptoras Retinianas Conos/fisiología , Tálamo/fisiopatología , Vías Visuales/fisiopatología , Adolescente , Adulto , Animales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos Migrañosos/complicaciones , Estimulación Luminosa , Fotofobia/etiología , Ratas , Ratas Sprague-Dawley , Adulto JovenRESUMEN
INTRODUCTION: Corneal ulcer is a leading cause of blindness worldwide. Many of these patients don't respond to conventional treatment with topical agents. Collagen cross-linking (CXL) has been suggested to avoid complications requiring emergency keratoplasty. SUBJECTS AND METHODS: Six eyes with presumed bacterial keratitis not responding to conventional treatment underwent CXL with ultraviolet A rays and transepithelial riboflavin. Patients with Descematocele and perforated ulcers were excluded. Preoperatively and postoperatively slit lamp examination of cornea and visual acuity recording was done. Postoperative outcome included subjective symptoms like relief in pain, photophobia, lacrimation and objective signs like improvement in epithelisation, corneal scarring with vascularisation. RESULTS: Four of the six eyes healed completely with scarring at 2 months follow-up. One of the patients developed Descematocele on 12 days which perforated later. Other patient developed Descematocele on 20 days post CXL. Of the subjective symptoms, pain and epiphora improved in all the patients except one. Photophobia improved only a week after CXL in four out of six patients. Epithelial defect completely healed over time in four out of six cases. All the cases who responded to treatment developed superficial and deep vascularisation of the cornea. Decrease in corneal edema and scarring was noted in four out of the six cases. CONCLUSION: The collagen cross-linking has a beneficial role as an adjuvant to medical therapy in recalcitrant bacterial keratitis. It helps in relief of pain and healing of ulcer. Larger randomized control trails with longer follow-up are required to come to a definite conclusion.
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Colágeno/efectos de los fármacos , Úlcera de la Córnea/tratamiento farmacológico , Reactivos de Enlaces Cruzados/uso terapéutico , Enfermedades de la Córnea/etiología , Úlcera de la Córnea/radioterapia , Lámina Limitante Posterior , Resistencia a Medicamentos , Humanos , Fotofobia/tratamiento farmacológico , Riboflavina/uso terapéutico , Terapia Ultravioleta , Agudeza VisualRESUMEN
BACKGROUND: Photophobia and phonophobia are the most prominent symptoms in patients with migraine without aura. Hypersensitivity to visual stimuli can lead to greater hypersensitivity to auditory stimuli, which suggests that the interaction between visual and auditory stimuli may play an important role in the pathogenesis of migraine. However, audiovisual temporal interactions in migraine have not been well studied. Therefore, our aim was to examine auditory and visual interactions in migraine. METHODS: In this study, visual, auditory, and audiovisual stimuli with different temporal intervals between the visual and auditory stimuli were randomly presented to the left or right hemispace. During this time, the participants were asked to respond promptly to target stimuli. We used cumulative distribution functions to analyze the response times as a measure of audiovisual integration. RESULTS: Our results showed that audiovisual integration was significantly elevated in the migraineurs compared with the normal controls (p < 0.05); however, audiovisual suppression was weaker in the migraineurs compared with the normal controls (p < 0.05). CONCLUSIONS: Our findings further objectively support the notion that migraineurs without aura are hypersensitive to external visual and auditory stimuli. Our study offers a new quantitative and objective method to evaluate hypersensitivity to audio-visual stimuli in patients with migraine.
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Estimulación Acústica/métodos , Migraña sin Aura/diagnóstico , Migraña sin Aura/epidemiología , Estimulación Luminosa/métodos , Tiempo de Reacción/fisiología , Adulto , Femenino , Humanos , Hiperacusia/diagnóstico , Hiperacusia/epidemiología , Hiperacusia/fisiopatología , Masculino , Migraña sin Aura/fisiopatología , Fotofobia/diagnóstico , Fotofobia/epidemiología , Fotofobia/fisiopatología , Factores de TiempoRESUMEN
BACKGROUND: Tension-type headache (TTH) is the most common type of primary headache however there is no clear evidence as to which specific treatment is most effective or whether combined treatment is more effective than individual treatments. AIM: To assess the effectiveness of manual therapy techniques, applied to the suboccipital region, on aspects of disability in a sample of patients with tension-type headache. DESIGN: Randomized Controlled Trial. SETTING: Specialized centre for headache treatment. POPULATION: Seventy-six (62 women) patients (age: 39.9 ± 10.9 years) with episodic chronic TTH. METHODS: Patients were randomly divided into four treatment groups: 1) suboccipital soft tissue inhibition; 2) occiput-atlas-axis manipulation; 3) combined treatment of both techniques; 4) control. Four sessions were applied over 4 weeks and disability was assessed before and after treatment using the Headache Disability Inventory (HDI). Headache frequency, severity and the functional and emotional subscales of the questionnaire were assessed. Photophobia, phonophobia and pericranial tenderness were also monitored. RESULTS: Headache frequency was significantly reduced with the manipulative and combined treatment (P<0.05), and the severity and functional subscale of the HDI changed in all three treatment groups (P<0.05). Manipulation treatment also reduced the score on the emotional subscale of the HDI (P<0.05). The combined intervention showed a greater effect at reducing the overall HDI score compared to the group that received suboccipital soft tissue inhibition and to the control group (both P<0.05). In addition, photophobia, phonophobia and pericranial tenderness only improved in the group receiving combined therapy (P<0.05). CONCLUSION: When given individually, suboccipital soft tissue inhibition and occiput-atlas-axis manipulation resulted in changes in different parameters related to the disability caused by TTH. However, when the two treatments were combined, effectiveness was noted for all aspects of disability and other symptoms including photophobia, phonophobia and pericranial tenderness. CLINICAL REHABILITATION IMPACT: Although individual manual therapy treatments showed a positive change in headache features, measures of photophobia, photophobia and pericranial tenderness only improved in the group that received the combined treatment suggesting that combined treatment is the most appropriate for symptomatic relief of TTH.