A genome-wide association study on photic sneeze reflex in the Chinese population.

Photic sneeze reflex (PSR) is an interesting but yet mysterious phenotype featured by individuals' response of sneezing in exposure to bright light. To uncover the underlying genetic markers (single nucleotide polymorphisms, SNPs), a genome-wide association study (GWAS) was conducted exclusively in a Chinese population of 3417 individuals (PSR prevalence at 25.6%), and reproducibly identified both a replicative rs10427255 on 2q22.3 and a novel locus of rs1032507 on 3p12.1 in various effect models (additive, as well as dominant and recessive). Minor alleles respectively contributed to increased or reduced risk for PSR with odds ratio (95% confidence interval) at 1.68 ([1.50, 1.88]) for rs10427255 and 0.65 ([0.58, 0.72]) for rs1032507. The two independent SNPs were intergenic, and collectively enhanced PSR classification by lifting the area-under-curve value in ROC curve to 0.657. Together with previous GWAS in other populations, the result substantiated the polygenic and non-ethnicity-specific nature behind the PSR phenotype.

A genome-wide association study on photic sneeze syndrome in a Japanese population.

Photic sneeze syndrome (PSS) is characterized by a tendency to sneeze when the eye is exposed to bright light. Recent genome-wide association studies (GWASs) have identified single-nucleotide polymorphisms (SNPs) associated with PSS in Caucasian populations. We performed a GWAS on PSS in Japanese individuals who responded to a web-based survey and provided saliva samples. After quality control, genotype data of 210,086 SNPs in 11,409 individuals were analyzed. The overall prevalence of PSS was 3.2%. Consistent with previous reports, SNPs at 3p12.1 were associated with PSS at genome-wide significance (p < 5.0 × 10-8). Furthermore, two novel loci at 9q34.2 and 4q35.2 reached suggestive significance (p < 5.0 × 10-6). Our data also provided evidence supporting the two additional SNPs on 2q22.3 and 9q33.2 reportedly associated with PSS. Our study reproduced previous findings in Caucasian populations and further suggested novel PSS loci in the Japanese population.

Curiosidad: reflejo de estornudo fótico. Síndrome helio-oftálmico de estornudos compulsivos autosómico dominante / A curious fact: Photic sneeze reflex. Autosomical dominant compelling helio-ophthalmic outburst syndrome

OBJETIVO: Evaluar la implicación ocular en la fisiopatología del síndrome helio-oftálmico de estornudos compulsivos autosómico dominante (ACHOOs). MÉTODOS: Una familia de raza caucásica, que muestra las características clínicas de ACHOOs, fue interrogada. De toda la familia, 12 pacientes presentan reflejo fótico y fueron seleccionados. Se realiza una evaluación oftalmológica completa. RESULTADOS: Se encuentra una herencia autosómica dominante con penetrancia parcial. El 67% de los sujetos estudiados mostró algún grado de prominencia en los nervios corneales. No se encontraron otras alteraciones oculares. CONCLUSIONES: Los nervios corneales prominentes pueden tener asociación con el ACHOOs. Las otras estructuras del ojo estudiados no parecen desempeñar un papel en el ACHOOs. Se necesitan más estudios para comprender la fisiología del ACHOOs

OBJECTIVE: To assess ocular involvement in the pathophysiology of autosomal dominant compelling helio-ophthalmic outburst syndrome (ACHOOs). METHODS: An interview was conducted with a Caucasian family that showed clinical features of ACHOOs. Twelve of them had photic reflex and were recruited. A complete eye evaluation was made. RESULTS: A dominant autosomal inheritance with mild penetrance was demonstrated, with 67% of the studied subjects showing some degree of prominent corneal nerves. No other eye changes were found. CONCLUSIONS: Prominent corneal nerves may be associated with ACHOOs. The other eye structures studied do not seem to play a role in ACHOOs. Further studies are needed to understand the physiology of the ACHOOs

A curious fact: Photic sneeze reflex. Autosomical dominant compelling helio-ophthalmic outburst syndrome. / Curiosidad: reflejo de estornudo fótico. Síndrome helio-oftálmico de estornudos compulsivos autosómico dominante.

OBJECTIVE: To assess ocular involvement in the pathophysiology of autosomal dominant compelling helio-ophthalmic outburst syndrome (ACHOOs). METHODS: An interview was conducted with a Caucasian family that showed clinical features of ACHOOs. Twelve of them had photic reflex and were recruited. A complete eye evaluation was made. RESULTS: A dominant autosomal inheritance with mild penetrance was demonstrated, with 67% of the studied subjects showing some degree of prominent corneal nerves. No other eye changes were found. CONCLUSIONS: Prominent corneal nerves may be associated with ACHOOs. The other eye structures studied do not seem to play a role in ACHOOs. Further studies are needed to understand the physiology of the ACHOOs.

Nasal sensitization with ragweed pollen induces local-allergic-rhinitis-like symptoms in mice.

Recently, the concept of local allergic rhinitis (LAR) was established, namely rhinitis symptoms with local IgE production and negative serum antigen-specific IgE. However, the natural course of LAR development and the disease pathogenesis is poorly understood. This study investigated the pathophysiology of mice with allergic rhinitis that initially sensitized with ragweed pollen through the nasal route. Mice were nasally administrated ragweed pollen over consecutive days without prior systemic immunization of the allergen. Serial nasal sensitization of ragweed pollen induced an allergen-specific increase in sneezing, eosinophilic infiltration, and the production of local IgE by day 7, but serum antigen-specific IgE was not detected. Th2 cells accumulated in nose and cervical lymph nodes as early as day 3. These symptoms are characteristic of human LAR. Continual nasal exposure of ragweed pollen for 3 weeks resulted in the onset of classical AR with systemic atopy and adversely affected lung inflammation when the allergen was instilled into the lung. Fcer1a(-/-) mice were defective in sneezing but developed normal eosinophilic infiltration. Contrary, Rag2(-/-) mice were defective in both sneezing and eosinophilic infiltration, suggesting that T cells play a central role in the pathogenesis of the disease. These observations demonstrate nasal allergen sensitization to non-atopic individuals can induce LAR. Because local Th2 cell accumulation is the first sign and Th2 cells have a central role in the disease, a T-cell-based approach may aid the diagnosis and treatment of LAR.

[Photic sneeze reflex or autosomal dominant compelling helio-ophthalmic outburst syndrome]. / Reflejo fótico de estornudo o síndrome de estornudos heliooftálmicos incoercibles autosómico dominante.

Sneeze is an ubiquitous phenomenon that happens to everyone. In spite of this, little attention has been paid to it, among medical literature in general, and even less in neurologic texts. A curious entity, called photic sneeze reflex, solar sneeze reflex, light sneeze reflex or autosomal dominant compelling helio-ophthalmic outburst syndrome, known perhaps since ancient Greek, has been scarcely described in the scientific literature, mainly as clinical notes and letters to the editor, but in a detailed way, we can find just a few reports. This reflex appears when subjects are exposed suddenly to intense sunlight and it consists of long incoercible sneeze bursts. It is usually ignored by its sufferers, who report it as a curiosity or a minor complaint, and its importance has been neglected in spite of its hereditary nature and its apparently high prevalence. We review the history, epidemiology, genetics, neuroanatomy, neurophysiology and physiopathology of this reflex hereditary response.

Reflejo fótico de estornudo o síndrome de estornudos heliooftálmicos incoercibles autosómico dominante / Photic sneeze reflex or autosomal dominant compelling helio-ophthalmic outburst syndrome

El estornudo es un fenómeno ubicuo que todo el mundo sufre a pesar de lo cual ha recibido poca atención en la literatura médica en general y neurológica en particular. Una curiosa entidad, conocida como reflejo fótico de estornudo (RFE). reflejo solar de estornudo, reflejo lumínico de estornudo o incluso como síndrome ACHOO (autosomal dominant compelling helio-ophthalmic outburst syndrome) (síndrome de estornudos heliooftálmicos incoercibles autosómico dominante). conocida quizá desde la Grecia clásica, está infrecuentemente descrito en la literatura, fundamentalmente en notas clínicas y cartas al director, pero rara vez ha sido investigada de forma exhaustiva. Dicho reflejo consiste en la aparición de salvas de estornudos prolongadas e incoercibles en individuos expuestos súbitamente a la luz solar intensa. El mismo es referido poco más que como una mera curiosidad o una simple molestia de aquel que lo padece y se le ha atribuido una mínima relevancia a pesar de su naturaleza hereditaria y su aparentemente elevada prevalencia. Revisamos la historia, epidemiología, genética, neuroanatomía, neurofisiología y fisiopatología de esta respuesta refleja hereditaria

Sneeze is an ubiquitous phenomenon that happens to everyone. In spite of this, little attention has been paid to it, among medical literature in general, and even less in neurologic texts. A curious entity, called photic sneeze reflex, solar sneeze reflex, light sneeze reflex or autosomal dominant compelling helio-ophthalmic outburst syndrome, known perhaps since ancient Greek, has been scarcely described in the scientific literature, mainly as clinical notes and letters to the editor, but in a detailed way, we can find just a few reports. This reflex appears when subjects are exposed suddenly to intense sunlight and it consists of long incoercible sneeze bursts. It is usually ignored by its sufferers, who report it as a curiosity or a minar complaint, and its importance has been neglected in spite of its hereditary nature and its apparently high prevalence. We review the history, epidemiology, genetics, neuroanatomy, neurophysiology and physiopathology of this reflex hereditary response

Síndrome de estornudos heliooftálmicos compulsivos autosómico dominante (reflejo fótico de estornudo). Estudio clínico de seis familias españolas / Autosomal dominant compelling helio-ophthalmic outburst syndrome (photic sneeze reflex). Clinical study of six Spanish families

Introducción. El estornudo es un fenómeno ubicuo que todo el mundo sufre, a pesar de lo cual ha recibido poca atención en la literatura médica en general y neurológica en particular. Una curiosa entidad, conocida como síndrome de estornudos heliooftálmicos compulsivo autosómico domi nante (autosomal dominant compelling helio-ophthalmic outburst syndrome), ha sido rara vez investigado de forma exhaustiva. Dicho reflejo consiste en la aparición de salvas de estornudos prolongadas e incoercibles en individuos expuestos súbitamente a la luz solar intensa. No existen referencias al tema en la literatura española. Objetivo. Estudiar las características clínicas fisiológicas del reflejo en familias españolas. Pacientes y método. Mediante una entrevista personal se detectaron sujetos que padecían el síndrome, a los cuales se les pasó un cuestionario elaborado al efecto y se les instruyó para que se lo pasaran al resto de la familia. Resultados. Las seis familias estudiadas mostraron un patrón hereditario autosómico dominante con elevada penetrancia. El reflejo mostró una elevada consistencia, una latencia de unos 3 s, un intervalo interestornudo de 2 s, las salvas eran de dos-tres estornudas y el período refractario de unas 24 h. Discusión. A diferencia de otros autores, nuestros encuestados refieren un reflejo con mayor consistencia, menor latencia y menor edad de aparición, que parece reforzarse con los años y cuya intensidad sonora es mayor que la del estornudo convencional

Introduction. Sneeze is an ubiquitous phenomenon that happens to everyone. In spite of this, little attention has been paid to it, among medical literature in general, and even less in neurologic texts. A curious entity, called autosomal dominant compelling helio-ophthalmic outburst syndrome, has been scarcely described in the scientific literature. This reflex appears when subjects are exposed suddenly to intense sunlight and it consists of long incoercible sneeze bursts. There are no publications on this subject among the Spanish literature. Objective. Io study the clinical and physiological features of the reflex in Spanish families. Patients and method. Affected subjects were identified by personal interview and given a questionnaire drawn up for this study. Besides, they were instructed to give the questionnaire to their relatives. Results. All the six families showed a high-penetrance, autosomal dominant inheritance. The reflex had a high consistency, a latency about 3 seconds, an intersneeze interval of 2 seconds and a frequency of 2-3 sneezes/burst. Refractory period was long. Discussion. Our study suggest a higher consistency, shorter latency and lower age of onset of the reflex in our patients than general population, and that frequency and intensity increase with time

[Autosomal dominant compelling helio-ophthalmic outburst syndrome (photic sneeze reflex). Clinical study of six Spanish families]. / Síndrome de estornudos heliooftálmicos compulsivos autosómico dominante (reflejo fótico de estornudo). Estudio clínico de seis familias españolas.

INTRODUCTION: Sneeze is an ubiquitous phenomenon that happens to everyone. In spite of this, little attention has been paid to it, among medical literature in general, and even less in neurologic texts. A curious entity, called autosomal dominant compelling helio-ophthalmic outburst syndrome, has been scarcely described in the scientific literature. This reflex appears when subjects are exposed suddenly to intense sunlight and it consists of long incoercible sneeze bursts. There are no publications on this subject among the spanish literature.and intensity increase with time. OBJECTIVE: To study the clinical and physiological features of the reflex in Spanish families. PATIENTS AND METHOD: Affected subjects were identified by personal interview and given a questionnaire drawn up for this study. Besides, they were instructed to give the questionnaire to their relatives.and intensity increase with time. RESULTS: All the six families showed a high-penetrance, autosomal dominant inheritance. The reflex had a high consistency, a latency about 3 seconds, an intersneeze interval of 2 seconds and a frequency of 2-3 sneezes/ burst. Refractory period was long.and intensity increase with time. DISCUSSION: Our study suggest a higher consistency, shorter latency and lower age of onset of the reflex in our patients than general population, and that frequency and intensity increase with time.

Histamine H1 receptors are involved in mouse nasal allergic responses: a demonstration with H1 receptor-deficient mice.

The role of histamine H1 receptors in nasal allergic symptoms (sneezing and nasal rubbing) were studied using histamine H1 receptor-deficient mice. Intranasal instillation of histamine solution resulted in significant increases in sneezing and nasal rubbing in wild-type mice, whereas no increases were observed in histamine H1 receptor-deficient mice. The histamine H1 receptor agonist 2-pyridylethylamine induced sneezing and nasal rubbing in a dose-dependent-manner in wild-type mice, but no such increase was found in histamine H1 receptor-deficient mice. On the other hand, the histamine H2 receptor agonist dimaprit did not increase sneezing and nasal rubbing in wild-type mice. Histamine H1 receptor antagonists such as chlorpheniramine and epinastine significantly inhibited nasal allergic symptoms caused by histamine, but the histamine H2 receptor antagonists cimetidine and famotidine showed no effect. No additional effects were observed by combined use of chlorpheniramine and cimetidine or famotidine compared with cimetidine or famotidine alone. These results suggested that histamine H1 receptors play an important role in nasal allergy symptoms induced by histamine.

Sudden unexpected sneezing during the insertion of peribulbar block under propofol sedation.

The author presents a case report where, following propofol sedation for a peribulbar block, sneezing was induced once the local anaesthetic needle was placed in the orbital cavity. The physiology of sneezing is discussed, as well as the pathophysiology of the ACHOO (Autosomal Dominant Compelling Helio-Ophthalmic Outburst) syndrome, an autosomal dominant condition, present in approximately 25% of the population, where sneezing is provoked upon exposure to bright light. It is suggested that the anaesthesia induced by propofol may have sensitized patients with this condition to sneeze, since there appeared to be no other excitatory sequelae which have previously been described with propofol.