0000000001135373

AUTHOR

Cristina Maggio

showing 2 related works from this author

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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Plasma levels of lipoproteins and apolipoproteins in congenital hypothyroidism: Effects of l-thyroxine substitution therapy

1995

Thyroid status in humans is an important factor in the regulation of lipoprotein metabolism. There are several data on hypothyroidism in the adult population, but less information is available about congenital hypothyroidism. Since lipid metabolism at birth is substantially different from that of adults, it is not likely that the same abnormalities that occur in adult hypothyroidism are also present when this is diagnosed at early life. We studied 16 subjects with congenital hypothyroidism, seven at the time of diagnosis and also after normalization of thyroid hormone levels over a period of 2.0 +/- 1.0 months of substitution therapy with L-thyroxine (5.9 +/- 1.2 micrograms/kg/d) and nine a…

Maleendocrine systemmedicine.medical_specialtyApolipoprotein BLipoproteinsEndocrinology Diabetes and MetabolismThyrotropinTriglyceridechemistry.chemical_compoundEndocrinologyHypothyroidismInternal medicineBlood plasmaCongenital HypothyroidismHumansMedicineLipoproteinTriglyceridesTriiodothyronineApolipoprotein A-Ibiologybusiness.industryCholesterolThyroidInfant NewbornInfantmedicine.diseaseApolipoproteinApolipoproteins; Humans; Infant Newborn; Lipoproteins HDL; Apolipoprotein A-I; Cholesterol; Thyrotropin; Infant; Congenital Hypothyroidism; Triglycerides; Lipoproteins; Thyroxine; Hypothyroidism; Lipoproteins LDL; Female; MaleCongenital hypothyroidismLipoproteins LDLThyroxineApolipoproteinsCholesterolEndocrinologymedicine.anatomical_structurechemistrybiology.proteinFemalelipids (amino acids peptides and proteins)Lipoproteins HDLbusinessHumanLipoproteinHormoneMetabolism
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