RESUMO
AIM: The enamel defects of Molar-Incisor Hypomineralisation (MIH) share clinical characteristics with hypomineralised second primary molars (HSPM) and hypomineralised primary canines (HPC). The main objective of this study is to determine the prevalence of these entities in a population of patients in a hospital dentistry service. The secondary objectives are to know the number and distribution of lesions, classify them according to their degree of severity and to know which dental surfaces are most affected. METHODS: A cross-sectional and observational prevalence study was carried out over a 32-day period, guided by the diagnostic criteria of the European Academy of Paediatric Dentistry (EAPD) together with the descriptive study of the lesions. Healthy patients between 30-42 months and who had all erupted teeth were included. RESULTS: Out of a total of 153 patients, 29 presented HSPM (18.95%) and 17 HPC (11.11%). Check-ups were made on 116 second primary molars (SPM) and 116 primary canines (PC), obtaining 81 HSPM (69.82%) and 31 HPC (26.72%). The lesions observed were mild in 60 molars (74.07%) and in 27 canines (87.09%). As for the 405 surfaces checked, 168 showed HSPM (41.48%) and 43 HPC (10.61%). CONCLUSIONS: The prevalence of HSPM and HPC varies depending on the population studied. It was observed that SPM were affected more often than PC, with the occlusal and buccal surfaces being the most affected, and the majority of the lesions presenting a low degree of severity.
Assuntos
Dente Molar , Odontopediatria , Estudos Transversais , Hospitais , Humanos , PrevalênciaRESUMO
In order to evaluate the contribution of 19 serotonin-related genes to the susceptibility to migraine in a Spanish population we performed a case-control association study of 122 single nucleotide polymorphisms (SNPs), selected according to genetic coverage parameters, in 528 migraine patients -308 with migraine without aura (MO) and 220 with migraine with aura (MA)- and 528 sex-matched migraine-free controls. The single-marker analysis identified nominal associations with the migraine phenotype or with the MO or MA subtypes. The multiple-marker analysis revealed risk haplotypes in three genes that remained significantly associated with migraine after correction by permutations. Two-marker risk haplotypes were identified in the HTR2B (rs16827801T-rs10194776G) and MAOA (rs3027400G-rs2072743C) genes conferring susceptibility to MO, and a four-marker haplotype in DDC was specific of MA (rs2329340A-rs11974297C-rs2044859T-rs11761683G). The present study supports the involvement of HTR2B and MAOA genes in the genetic predisposition to MO, while DDC might confer susceptibility to MA. These results suggest a differential involvement of serotonin-related genes in the genetic background of MO and MA.
Assuntos
Estudo de Associação Genômica Ampla , Transtornos de Enxaqueca/genética , Receptor 5-HT2B de Serotonina/genética , Serotonina/genética , Estudos de Casos e Controles , Dopa Descarboxilase/genética , Epistasia Genética , Humanos , Monoaminoxidase/genética , Polimorfismo de Nucleotídeo Único , EspanhaRESUMO
Skin fibroblasts were obtained from four patients with 7q11.23 microduplication syndrome carrying the reciprocal rearrangement of Williams-Beuren syndrome at the 7q11.23 genomic region. Induced pluripotent stem cells (iPSCs) were generated by retroviral infection of fibroblasts with polycystronic vectors. The generated iPSC clones ESi058B, ESi057B, ESi070A and ESi071A had the 7q11.23 duplication with no additional genomic alterations, a stable karyotype, expressed pluripotency markers and could differentiate towards the three germ layers in vitro via embryoid body formation and in vivo by teratoma formation. Patient's derived iPSCs are a valuable resource for in vitro modeling of 7q11.23 microduplication syndrome. Resource Table.
Assuntos
Células-Tronco Pluripotentes Induzidas , Adolescente , Diferenciação Celular , Pré-Escolar , Corpos Embrioides , Feminino , Fibroblastos , Humanos , Masculino , RetroviridaeRESUMO
Skin fibroblasts were obtained from four patients with Williams-Beuren syndrome (WBS) carrying the typical 1.5 Mb or 1.8 Mb deletion at the 7q11.23 genomic region. Induced pluripotent stem cells (iPSCs) were generated by retroviral infection of fibroblasts with polycystronic vectors. The generated iPSC clones ESi059A, ESi060B and ESi068A had the 1.5 Mb deletion of 7q11.23 and ESi069A the 1.8 Mb, with no novel additional genomic alterations, stable karyotype, expressed pluripotency markers and could differentiate towards the three germ layers in vitro via embryoid body formation and in vivo by teratoma formation. WBS patient's lines are a valuable resource for in vitro modelling of WBS.
Assuntos
Células-Tronco Pluripotentes Induzidas , Síndrome de Williams , Células Cultivadas , Corpos Embrioides , Fibroblastos , Humanos , Síndrome de Williams/genéticaRESUMO
BACKGROUND AND PURPOSE: Previous studies concerning the role of hormone receptor genetic variants in migraine have provided conflicting results. The aim of this study was to investigate the role of common polymorphisms in the estrogen receptor gene (ESR1) and the progesterone receptor gene (PGR) in the risk for migraine in a Spanish population. METHODS: In a case-control study, including 210 Caucasoid migraine patients and 210 controls, we examined association between three single nucleotide polymorphisms in the coding region of ESR1, rs2077642, rs1801132, and rs2228480, and an Alu insertion in PGR, and migraine, migraine without aura or migraine with aura. Genotypic, allelic and reconstructed haplotype distributions were compared. RESULTS: We found no significant differences between cases and controls in the distribution of genotypes or alleles for either polymorphism. No haplotype was over-represented in patients. CONCLUSIONS: Our study does not support a major contribution of ESR1 and PGR to the pathogenesis of migraine.
Assuntos
Receptor alfa de Estrogênio/genética , Transtornos de Enxaqueca/genética , Enxaqueca com Aura/genética , Enxaqueca sem Aura/genética , Receptores de Progesterona/genética , Adulto , Estudos de Casos e Controles , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Haplótipos , Humanos , Funções Verossimilhança , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNARESUMO
Familial hemiplegic migraine (FHM) is a rare type of migraine with aura. Mutations in three genes have been described in FHM patients: CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). We screened 27 Spanish patients with hemiplegic migraine (HM), basilar-type migraine or childhood periodic syndromes (CPS) for mutations in these three genes. Two novel CACNA1A variants, p.Val581Met and p.Tyr1245Cys, and a previously annotated change, p.Cys1534Ser, were identified in individuals with HM, although they have not yet been proven to be pathogenic. Interestingly, p.Tyr1245Cys was detected in a patient displaying a changing, age-specific phenotype that began as benign paroxysmal torticollis of infancy, evolving into benign paroxysmal vertigo of childhood and later becoming HM. This is the first instance of a specific non-synonymous base change being described in a subject affected with CPS. The fact that the molecular screen identified non-synonymous changes in < 15% of our HM patients further stresses the genetic heterogeneity underlying the presumably monogenic forms of migraine.
Assuntos
Canais de Cálcio/genética , Enxaqueca com Aura/genética , Mutação de Sentido Incorreto , Adolescente , Adulto , Sequência de Aminoácidos , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Canal de Sódio Disparado por Voltagem NAV1.1 , Proteínas do Tecido Nervoso/genética , Linhagem , Periodicidade , Canais de Sódio/genética , ATPase Trocadora de Sódio-Potássio/genética , Espanha , Torcicolo/genética , Vertigem/genéticaRESUMO
OBJECTIVES: To evaluate the ambulatory surgical site infection rate and risk factors associated with surgical site infection. METHODS: We conducted a case-control analysis of all ambulatory surgeries between January 1, 1993, and December 31, 1997. The frequency of surgical site infection per 100 surgeries was calculated. The odds ratio (OR) was estimated by using logistic regression analysis. SETTING: A 140-bed tertiary-care teaching hospital for adult patients with cancer. RESULTS: The study followed 1350 outpatient surgeries. Thirty-eight patients had a surgical site infection (rate per 100 surgeries: 2.8). The risk factors statistically associated with surgical site infection were postoperative antibiotics (OR = 7.5; 95% CI, 2.5-23.0), and surgical time >35 minutes (OR = 2.4; 95% CI, 1.1-5.5). CONCLUSIONS: The surgical site infection rate for same-day surgery at our hospital is within the limits reported in the literature and below the rates reported previously for inpatient surgeries at our hospital. Full review of medical records and microbiology reports at day 30 allowed us to identify infections that otherwise would have been missed. Postoperative antibiotics may increase the risk of infection.
Assuntos
Procedimentos Cirúrgicos Ambulatórios/efeitos adversos , Neoplasias/cirurgia , Infecção da Ferida Cirúrgica/epidemiologia , Infecção da Ferida Cirúrgica/etiologia , Adulto , Procedimentos Cirúrgicos Ambulatórios/estatística & dados numéricos , Procedimentos Cirúrgicos Ambulatórios/tendências , Antibacterianos/uso terapêutico , Estudos de Casos e Controles , Hospitais de Ensino , Humanos , Controle de Infecções/métodos , Controle de Infecções/normas , Modelos Logísticos , México/epidemiologia , Razão de Chances , Cuidados Pós-Operatórios/métodos , Cuidados Pós-Operatórios/estatística & dados numéricos , Fatores de Risco , Infecção da Ferida Cirúrgica/microbiologia , Infecção da Ferida Cirúrgica/prevenção & controle , Fatores de TempoRESUMO
We report a newborn with exaggerated startle reactions and stiffness of neonatal onset, the prototypical signs of hyperekplexia. Startle and flexor spasms, leading to apnoea, did not respond to treatment with clonazepam but did partially to sodium valproate. Molecular analysis of GLRA1 revealed no mutations. The incidental finding of hypouricemia led to a work-up for molybdenum cofactor (MoCo) deficiency; the diagnosis was confirmed by the altered urine chemistries, including elevated urine S-sulphocysteine. Despite persistence of the spasms, clinical or electrographic seizures were never detected before the infant died at age 1 month. In this patient, the concurrence of hyperekplexia and MoCo deficiency was suggestive of impaired gephyrin function. GPH mutational analysis, however, showed no abnormalities. The patient was eventually found to harbour a novel c.1064T > C mutation in exon 8 of the MOCS1 gene. Despite extensive sequence analysis of the gene, the second causative mutation of this recessive trait still awaits identification. MoCo deficiency should be considered in the differential diagnosis of neonatal hyperekplexia, particularly in the instances of refractoriness to clonazepam, an early demise in infancy or the evidence of no mutations in the GLRA1 gene.