Development and results of the Spanish registry of patients with alpha-1-antitrypsin deficiency

The Spanish registry of alpha-1 antitrypsin deficiency was founded in 1993 and became a member of the International Registry (AIR) in 1999. We describe the updating process following its incorporation into AIR and compare the data collected in the first period (1993–1999) and the second period (1999–2005), during which time patients were included exclusively by internet.The registry included 301 patients during period 1, 69% males and 46% had a history of smoking. Their mean age was 46 years (SD = 13) and 284 (94%) had the ZZ phenotype, 49% received augmentation therapy. During period 2, 161 new cases were included, 63% of whom were males with a mean age of 44 years (SD = 16). A total of 126 (78%) had the ZZ phenotype. Only 12% received augmentation therapy. A total of 462 different patients were included in both periods. Significant differences were observed in the number of cases with the SZ phenotype and the severity of FEV₁ impairment between the two periods.Implementation of an internet-based collection of data did not result in a lower rate of reporting to the registry. However, data from a significant number of patient included in period 1 could not be actualized in the new data base.     

Octyl-2-Cyanoacrylate Liquid Bandage as a Wound Dressing in Facial Excisional Surgery: Results of an Uncontrolled Pilot Study

BACKGROUND: Although cyanoacrylate tissue adhesives are frequently used in the closure of cutaneous lacerations and excisions, only a few reports comment on their usefulness as a dressing over sutured wounds. A new formulation of octyl-2-cyanoacrylate (Liquid Bandage; BAND-AID, Johnson & Johnson) is used as an occlusive protective film over minor cuts and scrapes. OBJECTIVE: An uncontrolled pilot study to assess the safety, efficacy, and cost of Liquid Bandage as an occlusive dressing over sutured facial excisions. METHODS: Patients undergoing excision of facial neoplasms were recruited. After conventional layered repair, Liquid Bandage was applied. On suture removal, the wounds were photographed and evaluated by three dermatologists, who assigned an overall outcome rating. The average cost of Liquid Bandage and routine wound care materials was calculated based on prices from three different pharmacies. RESULTS: Of the 18 wounds available at follow-up, 17 were assigned an overall outcome rating of good or excellent by at least one of the evaluators. Eleven wounds received an excellent rating from at least two of the evaluators. One case of distal flap necrosis occurred. Liquid Bandage proved to be less expensive than routine postsurgical wound care materials. CONCLUSIONS: Liquid Bandage dressing is safe and effective over sutured facial excisions.     

Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirm association to substance-related disorders, eating disorders, and schizophrenia.

BACKGROUND: There is an increasing recognition that the pathophysiology of mental disorders could be the result of deregulation of synaptic plasticity with alterations of neurotrophins. The valine (Val)66-to-methionine (Met) variant, located in the pro brain-derived neurotrophic factor (BDNF) sequence, has been extensively studied through linkage and association approaches in several psychiatric disorders. METHODS: We performed a meta-analysis restricted to individual case-control studies in different categories of mental disorders and BDNF Val66Met polymorphism. We included data from 39 case-control studies encompassing psychiatric phenotypes: eating disorders, substance-related disorders, mood disorders, and schizophrenia, among others. RESULTS: The association of Val66Met was confined to three diagnoses: substance-related disorders, eating disorders, and schizophrenia. The Val/Met and the Met/Met genotypes increase the risk for eating disorders up to 33%, while these same genotypes confer a 21% protective effect in substance-related disorders. The homozygous carriers Met/Met showed a 19% increased risk of schizophrenia with respect to the heterozygous state. CONCLUSIONS: The study confirms the association of Val66Met to substance-related disorders, eating disorders, and schizophrenia. It remains to be determined if other variants in tight linkage disequilibrium with Val66Met could configure an extended functional haplotype that would explain observed discrepancies in risk estimations across studies.     

Ischemic stroke complicating cardiac catherization: case report.

Ischemic stroke occurs in 0.2-0.4% of patients undergoing left heart catheterization, and is responsible for 5-10% of the mortality associated with the procedure. The main predisposing factors for this complication are female gender, complex atherosclerotic plaques in the ascending aorta, and peripheral arterial disease. The possibility of timely intervention with reperfusion therapy supports close clinical monitoring during the immediate post-catheterization period. The cardiologist should be familiar with the various types of stroke reperfusion therapy and its indications according to the time interval between catheterization and the stroke. The decision should be discussed with neurology and neuroradiology.     

Trends in incidence and clinical presentation of temporal arteritis in Olmsted County, Minnesota, 1950-1985

Ninety-four Olmsted County, Minnesota residents with temporal arteritis (TA) initially diagnosed between 1950 and 1985 (incidence cohort) were identified. The age- and sex-adjusted incidence of TA per 100,000 population age 50 years or older was 17.0 (95% confidence interval [CI] 13.6-20.5), with a marked increase in incidence with age and a threefold greater incidence in women (23.4, 95% CI 18.2-28.7) than in men (7.4, 95% CI 3.7-11.0). The previously described secular increase in TA incidence in Olmsted County women continued from 1970 through 1985, while TA incidence in men declined in this latter time period. Although the frequency of classic clinical manifestations of TA declined over time, the percentage of patients undergoing biopsy who have positive specimens remained relatively constant (women 41%, men 26%). The incidence rate of temporal artery biopsy also increased for women during this period, but declined for men, suggesting that the differing trends in TA incidence by sex may be partially attributable to a detection bias. Future research in TA etiology and epidemiology should focus on possible causal factors linked to the differential TA incidence by sex.     

Seven DNA polymorphisms in the LDL receptor gene: application to the study of familial hypercholesterolemia in Spain

We have performed restriction fragment length polymorphism (RFLP) analysis at the low density lipoprotein receptor (LDLR) locus in order to investigate the molecular genetics of familial hypercholesterolemia (FH) in Spain. Firstly, a sample of 50 unrelated patients with a clinical diagnosis of FH was screened for the presence of major rearrangements at this locus by Southern blot analysis of Bgt II digested genomic DNA. Four different mutations were detected, accounting for 8% of the mutant alleles in the Spanish FH sample. Then, we determined the relative allele frequency and estimated linkage disequilibrium between seven RFLPs of the LDLR gene in the remaining 46 FH patients and in 61 normolipidemic controls. Hindi, Avail, Pvu II, Msp I, and Nco I are the most polymorphic sites with individual PIC values higher than 0.28, whereas the Taq I and Stu I sites display low levels of polymorphism. The usefulness of the seven RFLPs to confirm a clinical diagnosis of FH was investigated in 15 FH-families, consisting of 118 individuals, in whom the presence of Familial Defective Apolipoprotein B-100 (FDB) due to the apoB₃₅₀₀ mutation was excluded. Independent haplotypes were constructed for 71 chromosomes: 15 FH and 56 control haplotypes. A total of 14 different haplotypes was found. In 12 families, clinical diagnosis of FH was confirmed by cosegregation analysis, which makes these RFLPs useful for studying the inheritance of the LDLR gene in 80% of Spanish families with FH. Comparison of haplotypes found in the Spanish sample with those found in Swiss and Norwegians suggests heterogeneity of haplotypes among European populations.