Hypomineralisation of second primary molars and primary canines: Prevalence and description of lesions in a population of 153 patients visited at a hospital paediatric dentistry service.

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.

Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion).

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.

Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome.

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.

Association study of the serotoninergic system in migraine in the Spanish population.

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.

Lack of association of hormone receptor polymorphisms with migraine.

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.

Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes.

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.

Evolución y resultados de la consulta externa de Cuidados Paliativos en el Institut Català d’Oncologia: 2001-2005 / No disponible

Objetivo: describir el proceso de citación en la consulta externa y sus principales resultados clínicos del Servicio de Cuidados Paliativos del Institut Català d’Oncologia, para el periodo 2001-2005. Pacientes y métodos: pacientes consecutivos por los que se consultó y se visitaron en las consultas externas durante el periodo de estudio. Cada paciente por el que se consultó fue evaluado y programado para visita siguiendo un protocolo claramente definido. En cada visita se registraron variables demográficas y clínicas y se evaluaron el dolor, anorexia, estreñimiento, insomnio, debilidad, ansiedad y depresión. La eficacia en el control sintomático se analizó para aquellos pacientes que fueron capaces de hacer tres visitas consecutivas. Resultados: referente al proceso de citación fueron evaluables 2.385 pacientes. El 80% de los pacientes programados vinieron a visita y la mediana de tiempo entre la demanda y la visita fue de 10 días. La evaluación del control sintomático fue posible para 553 pacientes, mostrando un significativo buen control de todos los síntomas con excepción de la astenia. El 55% de los pacientes requirieron opioides para el dolor, observándose un cambio en el patrón pasando de morfina a fentanilo TTS. Conclusiones: la carga asistencial, en nuestro centro, en la consulta externa de cuidados paliativos es alta. Los resultados del proceso de citación muestran un alto cumplimiento con un mínimo tiempo de espera entre la petición y la visita. Los resultados clínicos muestran un buen control global de los síntomas con excepción de la astenia. También se observa un cambio en el patrón de la prescripción de opioides. Este estudio ha de ser considerado como la línea basal para futuros estudios en nuestro centro o en otros de características similares (AU)

Objective: to describe the appointment scheduling process in the outpatient clinic, and the main clinical results of the palliative care service at Institut Català d’Oncologia for the period 2001-2005. Patients and methods: patients consecutively visited in the outpatient clinic during the study period. Each patient was evaluated and scheduled following a clearly defined appointment protocol. Demographic and clinical variables, and symptom control for pain, anorexia, constipation, insomnia, weakness, anxiety, and depression were recorded for each visit. Symptom control efficacy was analyzed for patients able to pay three consecutive visits. Results: regarding the appointment process, 2,385 patients were evaluable. Eigthy percent of patients scheduled were able to attend the visit, and the median time between request and visit was 10 days. Symptom control was evaluable for 553 patients, with a significantly good control for all symptoms but weakness. Opioids for pain were used by 55% of patients, with a progressive change in the pattern of prescription from morphine to fentanil-TTS. Conclusion: in our center palliative care outpatient activity has a high workload. The results of our appointment process show high compliance with a minimum delay between request and visit. Overall, clinical outcomes demonstrate a good control for a set of paradigmatic symptoms in advanced cancer patients, except fort weakness. Also, a change was found in the pattern of opioid prescription. This study should be considered a baseline report that may be of help for further analyses, both in our Institute and other cancer centers (AU)

Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study.

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.

Surgical site infections in ambulatory surgery: a 5-year experience.

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.