Search results for " periodic syndromes"

showing 3 items of 3 documents

MOTION SICKNESS IN CHILDHOOD MIGRAINE

2017

Background: Migraine is a chronic, progressive, and debilitating disorder that has an impact on the lives of millions of individuals. The origins of the disability can be traced into childhood and adolescence for most adult migraine sufferers. The group of periodic syndromes consists in symptoms related to migraine, thought to be migraine equivalent or precursors. Aim of this study is to assess the role of MS as risk factors for childhood migraine. Materials and methods: 441 subjects (211 Females) aged 6-13 years (mean 9.20; SD 2.42), consecutively referred between October 2007 to March 2009 for primary headaches to pediatric Centers for Headache in Childhood. Control group consisted of 365…

childhood migraine periodic syndromes Abdominal Migraine Motion Sickness Cyclic Vomiting Growing Pains.
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Rare NLRP12 variants associated with the NLRP12-autoinflammatory disorder phenotype: an Italian case series.

2013

AdultMaleHeredityAdolescentIntracellular Signaling Peptides and Proteinsautoinflammatory disorder phenotype NLRP12TRAPSMiddle AgedCryopyrin-Associated Periodic SyndromesPedigreePhenotypeTreatment OutcomeSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAItalyMutationHumansFemaleGenetic Predisposition to DiseaseAdolescent; Adult; Child Preschool; Cryopyrin-Associated Periodic Syndromes; Female; Genetic Predisposition to Disease; Heredity; Humans; Immunosuppressive Agents; Intracellular Signaling Peptides and Proteins; Italy; Male; Middle Aged; Pedigree; Phenotype; Treatment Outcome; MutationChildPreschoolImmunosuppressive Agents
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Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study

2016

Objective.The aim of our study was to analyze the clinical and functional effect of the p.Q703K (p. Q705K, c. 2107C>A) variant of the NLRP3 gene in a population of patients screened for suspected cryopyrin-associated periodic syndrome (CAPS).Methods.Since 2002, 580 patients underwent molecular analysis for NLRP3. Data on clinical presentation, response to treatment, and longterm followup were collected using a uniform questionnaire. The pattern of cytokine secretion after lipopolysaccharide stimulation from isolated monocytes was analyzed in 3 patients carrying the p.Q703K variant and 1 patient with a chronic infantile neurologic, cutaneous, articular syndrome phenotype carrying both the…

0301 basic medicineMalePathologyMonocyteGastroenterologyMonocytesInflammasome0302 clinical medicineCRYOPYRIN-ASSOCIATED PERIODIC SYNDROMEImmunology and AllergyYoung adultChildeducation.field_of_studyCRYOPYRINMiddle AgedInterleukin-1βPhenotypeArthralgiaPhenotypeChild PreschoolNational studyCytokinesFemaleHumanAdultCryopyrinmedicine.medical_specialtyAdolescentImmunologyPopulationNLR Family03 medical and health sciencesYoung AdultRheumatologyNLRP3Internal medicineNLR Family Pyrin Domain-Containing 3 ProteinmedicineHumansPreschooleducationCytokineAllele frequencyGene030203 arthritis & rheumatologybusiness.industryCryopyrin-associated periodic syndromeInfantExanthemamedicine.diseasePyrin Domain-Containing 3 ProteinCryopyrin-Associated Periodic SyndromesINTERLEUKIN-1βCryopyrin-Associated Periodic Syndrome030104 developmental biologyINFLAMMASOMEMutationCryopyrin; Cryopyrin-Associated Periodic Syndrome; Inflammasome; Interleukin-1β; NLRP3; Adolescent; Adult; Arthralgia; Child; Child Preschool; Cryopyrin-Associated Periodic Syndromes; Cytokines; Exanthema; Female; Humans; Infant; Male; Middle Aged; Monocytes; NLR Family Pyrin Domain-Containing 3 Protein; Young Adult; Mutation; PhenotypeCytokine secretionbusinessCRYOPYRIN; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME; INFLAMMASOME; INTERLEUKIN-1β; NLRP3
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