References 1. Harnack L, Jacobs DR, Nicodemus K, Lazovich D, Anderson K, Folsom AR. Relationship of folate, vitamin B-6, vitamin B-12, and methionine intake to incidence of colorectal cancers. Nutr Cancer. 2002; 43:152-8. 2. Renkonen E, Lohi H, Jarvinen HJ, Mecklin JP, Peltomaki P. Novel splicing associations of hereditary colon cancer related DNA mismatch repair genemutations. J Med Genet. 2004; 41:e95. 10.1136/jmg.2003.017269 3. Sergent C, Franco N, Chapusot C, Lizard-Nacol S, Isambert N, Correia M, et al. Human colon cancer cells surviving high doses of
This is a case report of a 36-year-old male who was diagnosed with acute inferior and right ventricular myocardial infarction and treated with percutaneous coronary angioplasty with a drug-eluting stent in the right coronary artery. A profile test for thrombophilia was performed for methylene tetrahydrofolate reductase (MTHFR) gene mutation; the test was positive for a heterozygous mutation - C677C and 1298A. The patient received a long-term treatment with folic acid supplements, taken daily. This case report shows that medical doctors should have an outside-the-box approach for the diagnosis and therapeutic management of young patients who present with acute cardiovascular events. If the patient in question does not present clear cardiovascular risk factors for acute myocardial ischemia, the clinician should seek for possible causes, thus leading to several benefits in the management and secondary prevention of such cases.
manner that can range from mild clinical signs to life-threatening complications, especially in the neonatal period. If we evaluate these clinical presentations alone, we may cause a misdiagnosis or a delayed diagnosis. Therefore, it will be a more accurate approach to evaluate each clinical findings together. We presented a patient with NS who had different clinical features because of the presence of a previously unreported pili annulati abnormality and a new SPINK5 genemutation, the absence of mental retardation and frequent infections. Declaration of Interest
M, Bosch J, Rodes J, Ballesta F, Oliva R. Prevalence of the Cys282Tyr and His63Asp HFE genemutations in Spanish patients with hereditary hemochromatosis and in controls. J Hepatol 1998; 29(5): 725-728. Remacha AF, Barcelo MJ, Sarda MP, Blesa I, Altes A, Baiget M. The S65C mutation in Spain. Implications for iron overload screening. Haematologica 2000; 85(12): 1324-1325. Mariani R, Salvioni A, Corengia C, Erba N, Lanzafame C, De Micheli V, Baldini V, Arosio C, Fossati L, Trombini P, Oberkanins C, Piperno A. Prevalence of HFE mutations in upper Northern Italy
detected with standard karyotyping, and an additional 3.0-5.0% have been found using fluorescence in situ hybridization (FISH); in 10.0-35.0% of cases, copy number variants (CNVs) can be found with microarray analysis and in 5.0% of the cases, single genemutations might be found [ 10 ]. In the complex/syndromic autism group, it is relatively easier to find the genetic etiology with the help of dysmorphic features. Fragile X syndrome, Angelman syndrome or Rett syndrome are examples of syndromic ASD. Approximately 1.0-3.0% of children with ASD have been found to have
References 1. Papillon MM, Lefevre P. Twocases of symmetrically familial palmar and plantar hyperkeratosis (Meledadisease) within brother and sister combined with severe dental alterations in both cases (in French). Bull Soc Fr Dermatol Syph, 1924;31:82-84 2. Wani AA, Devkar N, Patole MS, Shouche YS. Description of two new cathepsin C genemutations in patients with Papillon-Lefèvre syndrome. J Periodontol, 2006;77:233-237. 3. Hattab FN, Rawashdeh MA, Yassin OM, al-Momani AS, al-Ubosi M. Papillon-Lefèvre syndrome: a review of the literature and report of 4 cases
Homocysteinemia and Methylentetrahydrofolate Reductase Gene Mutation as a Risk Factor for Blood Vessel Disease
The aim of the project was to investigate homocysteinemia and Methylentetrahydrofolate reductase (MTHFR) gene (C677T) mutation with vascular diseases. The investigation comprised a total number of 378 subjects divided into two main groups: 194 healthy individuals and 184 patients: 91 with arterial occlusive disease (AOD) and 93 with thrombosis of deep vein (TDV). Concentration of total homocysteine (tHcy) in plasma was determined using the modified immunoenzyme method. Mutation of MTHFR C677T was examined with polymerase chain reaction with CVD StripAssay (ViennaLab Labordiagnostika GmbH) as a segment of 12 mutations of the cardiovascular system. Concentration of tHcy in patients with AOD was 16.3 ± 8.4 μmol/L in men, 14.1 ± 3.3 μmol/L in women and it was statistically significantly increased as compared to healthy subjects from the same gender (p<0.001). Concentration of tHcy in men with TDV was 14.0 ± 3.5 μmol/L, 13.4 ± 3.0 μmol/L in women and it was significantly increased in comparison to healthy subjects (p<0.001). Concentration of homocysteine in plasma of healthy subjects with different genotype of MTHFR C677T showed significantly higher values for TT when compared to CC genotype as well as to CT genotype. Comparison between healthy and sick individuals both separately, AOD and TDV, or as one entity, showed significantly higher values for the genotypes CC and CT, but not for the TT genotype. There was no correlation of MTHFR C677T gene mutations with AOD and TDV.
recessive SLC2A10 genemutations [ 1 , 2 ]. The estimated incidence ranges from 1:100,000 to 1:500,000 live births. To date, approximately 100 patients have been reported carrying some of the fewer than 30 described mutations [ 8 ]. Diagnostic criteria have not been standardized, however, widespread arterial tortuosity, PAS and specific facial dysmorphisms have been reported in the large majority of the patients, and are suitable to be considered as hallmarks of the disease [ 3 ]. The usual presenting symptom of ATS is PAS-induced cyanosis/respiratory failure in the
targeted therapy is based on the specific genetics of every neoplastic process which implies individualized treatment according to detected genetic mutations. The role of some biomarkers, such as the KRAS (Kirsten rat sarcoma) genemutation, is evaluated in determining molecular targeted therapy [ 6 ]. Neoadjuvant chemotherapy response is very important for disease-free and overall survival, and in the era of effective chemotherapy, various criteria for tumor response are established [ 10 ]. A complete pathologic response of both primary and secondary tumors, is