ABSTRACT
BACKGROUND/OBJECTIVES: Homocysteine (Hcy) is a key intermediate in methionine metabolism. A high plasma concentration of Hcy is an independent risk factor for cardiovascular diseases among other determinants. In this study, we aimed to investigate the interactions between methylenetetrahydrofolate reductase enzyme gene (MTHFR) polymorphisms and lifestyle variables (smoking, alcohol intake and physical activity) on Hcy concentrations in a young Brazilian population. SUBJECTS/METHODS: The study population comprised 3803 individuals from the Pelotas Birth Cohort, aged 22-23 years. Allelic discrimination assays and chemiluminescence immunoassays were performed for genotyping and serum Hcy measurements, respectively. Linear regression models were used to explore the effect of gene-lifestyle interactions on Hcy concentrations. RESULTS: Men carrying the MTHFR 677TT genotype, who were also smokers and drinkers (⩾15 g of alcohol per day), had the highest concentration of Hcy (P-value for the interaction <0.001 for smoking and 0.002 for alcohol intake). In contrast, high folate concentrations attenuated the effects of the MTHFR C677T genotype on serum Hcy concentrations (P-value for interaction <0.001). Also, among males, blood folate concentration was the only lifestyle variable able to modify the influence of MTHFR A1298C genotypes on Hcy concentrations (P-value for the interaction <0.001). There was no strong evidence of an interaction between the MTHFR genotypes and the lifestyle variables in women. CONCLUSIONS: In summary, our study demonstrates a sex difference in Hcy concentrations among Brazilian young adults regarding MTHFR C677T-lifestyle interactions that are worsened under conditions of low blood folate. Identification of potentially modifiable factors related to an increase in homocysteine in young adults, especially in those who are genetically susceptible, is important to prevent negative health consequences in the future.
Subject(s)
Gene-Environment Interaction , Homocysteine/blood , Life Style , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Polymorphism, Genetic , Alleles , Brazil , Cohort Studies , Female , Folic Acid/blood , Folic Acid Deficiency , Genotype , Humans , Male , Sex Factors , Young AdultABSTRACT
Surgical resection of traumatic cysts by means of laparoscopy in two female patients is reported. The patients had sustained severe trauma in the left upper quadrant, were symptomatic and developed large splenic cysts found by computerized tomography, with an average diameter of 8.5 cm. Both patients were submitted to puncture and capsule removal by means of videolaparoscopy and diathermy; splenic parenchyma was preserved and the cyst's bed drained. No intra or postoperative complications occurred. After an average 21 months postoperative follow-up, both patients are symptom-free and no late recurrences were found on tomographic studies. The advantages of this technique over others that have been reported are the preservation of splenic parenchyma, its easy performance and efficient relief of symptoms, as well as being minimally invasive, associated with minimal postoperative pain, shorter length of hospital stay, and no early recurrences.
Subject(s)
Abdominal Injuries/complications , Cysts/surgery , Laparoscopy , Splenic Diseases/surgery , Adult , Cysts/diagnostic imaging , Cysts/etiology , Female , Humans , Splenic Diseases/diagnostic imaging , Splenic Diseases/etiology , Tomography, X-Ray ComputedABSTRACT
Otological involvement in Histiocytosis X, although infrequent, may be present in any of the forms of this entity. The otologist must keep Histiocytosis X in mind in the differential diagnosis of cases presenting with post-aural swelling, non purulent otorrhea and absence of fever and pain in children under three-years old. Some aspects of clinical presentation and treatment are discussed.
