Polimorphism

The hypersensitivity reactions induced by drugs, some widely used, like central nervous system medication, can have various presentations. The lung is a frequent target for such events. We present the case of 40-year-old male patient, non-smoker, with infant encephalopaty, seizures since age of 6 with polimorphic crisis (mainly absences), with anticonvulsivant treatment since 2011 (carbamazepine, sodium valproate, levetiracetam), with no respiratory medical history. Current symptoms started two weeks before, with chest pain, dry cough...

The HIV-1 subtype C has been substituting the subtype B population in southern Brazil. This phenomenon has been previously described in other countries, suggesting that subtype C may possess greater fitness than other subtypes. The HIV-1 long-terminal repeat (LTR) is an important regulatory region critical for the viral life cycle. Sequence insertions immediately upstream of the viral enhancer are known as the most frequent naturally occurring length polimorphisms (MFNLP). Previous reports demonstrated that the MFNLP could lead to the duplication of transcription factor binding sites (TFBS) enhancing the activity of the HIV-1 subtype C LTR...

AIM: to study the frequency of genetic variants of eNOS and ACE polimorphism and their possible influence on the course of diabetic pregnancy and perinatal outcome. MATERIAL AND METHODS: 107 pregnant women with type 1 diabetes, treated at the Department of Obstetrics and Women's Diseases between 2008-2011, were enrolled into the study. Ninety six (90%) of the patients delivered at term. All women were treated with intensive insulin therapy Glucose control was performed by means of self-monitoring with glucometers...

Electrocardiography is a method which can not be replaced by any other examination in arrhythmias. It also plays a crucial role in the diagnosis of arrhythmic rare diseases by providing not only diagnostic data, but also paving the way for treatment. This article presents some characteristic examples of ECG in arrhythmic rare diseases (i.e., polimorphic ventricular tachycardia, Brugada syndrome, Coumela syndrome, nonreentrant supraventricular tachycardia with double ventricular response).

BACKGROUND: Several reports suggest that the reelin protein could play a role in Alzheimer pathophysiology. This led us to ask whether genetic variability in the reelin pathway may increase the risk of developing Alzheimer disease (AD) or mild cognitive impairment (MCI). METHODS: This was a case-control study in which neuropsychological tests were administered and peripheral blood samples taken. The study included 121 patients with AD, 94 with MCI, and 198 controls...

The aim of this paper is to provide a systematic review of the role of the genetic factors, detoxication systems and oxidative stress in the pathogenesis of endometriosis and infertility. Endometriosis and infertility are still both the most uncommon diseases in gynecology. Many aspects of female reproductive function are strongly influenced by genetic factors, and numerous studies have attempted to identify susceptibility genes for disorders affecting female fertility such as polycystic ovary syndrome, endometriosis, fibroids, cancer (ovarian, vulvar, cervical), premature ovarian failure, recurrent pregnancy loss and pre-eclampsia...

YKL-40 (chitinase-3-like-1) has been introduced as a marker of inflammation in asthma. The aim of this study was to determine the role of YKL-40 in asthma and to evaluate the relationship between YKL-40 and asthma severity.In the study, 60 non-smoker asthma patients without additional diseases (aged between 20-60 years, female: 34) were grouped [Group I: Well controlled asthma patients (n: 30), Group II: Patients during acute exacerbation of asthma (n: 30)]. Healthy non-smoker female individuals were included in Group III (n: 30) as a control group...

INTRODUCTION: Different pathological processes can deteriorate kidney function and cause ireversible degeneration of its structure; however, an optimal way to inhibit or slow down progression of renal damage is unforunately not available. In the light of promissing data concerning homeodomain-interacting protein kinase 2 (HIPK2) upregulation in damaged kidneys animal model, and increased levels of this protein in patients with various kidney diseases, the influence of rs7456421 and rs 2030712 single nucleotide polimorphisms of HIPK2 gene on chronic kidney disease incidence and progression was studied...

UNLABELLED: Pulmonary complications in HIV infection are still an important cause of morbidity and mortality among AIDS patients. An accurate assessment and diagnosis of these patients should include demografic, clinical, and laboratory data associated to the recognition of imaging pattern. When the radiological appearance is atypical and does not suggest pneumonia, the need of interpreting the pulmonary image in relation with HIV viremia level and CD4 lymphocyte count. AIM: Analysis of statistical data, diagnosis, course, and particularities of HIV/AIDS cases with non-tuberculous bronchopulmonary infections, and the possible relations between the pulmonary radiological appearance, viremia, and CD4 lymphocyte count...

The sudden infant death syndrome (SIDS) is the main cause of postneonatal infant death, being defined as the sudden death of an infant under one year of age that remains unexplained after a complete clinical review, autopsy and death scene investigation. The neurotransmitter serotonin (5-HT) is involved in the regulation of a broad array of behavioral and biological functions. By controlling the reuptake of 5-HT from the extracellular space, the serotonin transporter (5-HTT) regulates the duration and strength of the interactions between 5-HT and its receptors...

The incidence and prevalence of diabetes mellitus is globally increasing. The causes of this trend are relatively obvious in the case of type 2 diabetes. In contrast, in case of type 1 diabetes the amount of available data is continuously growing, but the causes are not so well defined. The genetic risk, especially related to the MHC genes is well known, and the increasing amount of data underlines the role of additional risks due to non-MHC genetic polimorphisms. Hopefully, they will provide the basis for future diagnostic and therapeutic approaches...

Brain-derived factor (BDNF) is a member of neurotrophin family and is localized and upregulated in areas implicated in epileptogenesis. Several lines of evidence make the BDNF gene a plausible candidate gene for predisposition to epilepsy. In this study, we tested that BDNF might be involved in the etiology of childhood PE. To assess whether BDNF gene C270T polimorphism could be implicated in vulnerability to PE, we conducted a case-control association analysis (112 partial epileptic and 100 controls) in Turkish children...

22q11.2 deletion syndrome (22q11DS) is a genetic syndrome associated with a microdeletion of the chromosome 22 band q11.2 with an estimated prevalence between 1:2,500 and 1:4,000. Studies of school-age children have shown that individuals with 22q11DS have high rates of psychiatric morbidity. In particular, by late adolescence, about 30% of patients with 22q11DS develop psychotic symptoms. One of the genes located in the microdeletion region of 22q11DS is the Catechol-O-Methyl transferase (COMT) which codes for an enzyme critically involved in the catabolic clearance of dopamine...

Recent findings provide evidence of inflammasome critical role in the predisposition to autoimmune disorders. The involvement of inflammasome in the pathogenesis of systemic lupus erythematosus (SLE) has been hypothesized even if no significant association within inflammasome genes mutations or polymorphisms and lupus has been reported yet. We analyzed 14 single nucleotide polymorphisms (SNPs) within 7 inflammasome genes (NLRP1, NLRP3, NLRC4, AIM2, CARD8, CASP1, IL1B) in 144 patients affected by systemic lupus erythematosus and in 158 healthy controls from Southern Brazilian (state of São Paulo) with the aim of disclosing the possible role of inflammasome genes in the susceptibility of SLE...

BACKGROUND Genetic factors have an important role in atopic dermatitis (AD) predisposition. Toll like receptor (TLR) are important mediators between environment and immune system. There are incosnsitent studies about TLSR polymorphisms in AD. OBJECTIVE This study examined whether single nucleotide polimorphisms (SNPs) in the genes for TLR2 and TLR4 could be associated with the AD phenotypes and with its clinical severity in a large group of Italian children. METHODS 187 children with Ad and 150 healthy children were recruited...

OBJECTIVE: To study the influence of ER-alpha on mammographic density. MATERIAL AND METHODS: We selected 87 healthy women (age 49.8 +/- S.D. 6.12 years). We obtained the body mass index (BMI), and a fasting blood sample for hormone determinations and DNA extraction. ER-alpha genotyping was carried out by PCR and digestion with a Pvull and Xbal restriction endonucleases. Mammographic density was assigned by the radiologist used three categories of fatty, average and dense...

In this study, we aimed to determine genetic susceptibility of children group who are under follow up at outpatient and inpatient clinics or newly diagnosed pediatric tuberculosis according to healthy control group. Patient group consists of 50 cases aged between 0-18 years who are under follow up at outpatient and inpatient clinics or newly diagnosed pediatric tuberculosis between 1996-2009 in Cukurova University, Faculty of Medicine, Department of Pediatrics and the control group consists of 50 healthy cases aged between 0-18 years who have neither chronic nor acute diseases and have no history of tuberculosis contact...

Abstract Genetic testing of drug response represents an important goal for targeted therapy. In particular, 5-fluorouracil (5-FU) is the backbone of several chemotherapic protocols for treatment of solid tumors. Unfortunately, in some patients, 5-FU is toxic and causes gastrointestinal and hematologic lesions leading to the suspension of therapy. Some adverse drug responses can be predicted by pharmacogenomics. Recently, several polymorphic traits of different genes involved with 5-FU biotransformation have been reported...

Richter syndrome (RS) represents the transformation of chronic lymphocytic leukaemia (CLL) to aggressive lymphoma. Risk factors of CLL transformation to RS are only partly known. We explored the role of the host genetic background as a risk factor for RS occurrence. Forty-five single nucleotide polimorphisms (SNPs) known to be relevant for CLL prognosis were genotyped in a consecutive cohort of 331 CLL, of which 21 had transformed to RS. After correcting for multiple testing and adjusting for previously reported RS risk factors, the LRP4 rs2306029 TT variant genotype was the sole SNP independently associated with a higher risk of RS transformation (Hazard Ratio: 4·17; P = 0·001; q = 0·047)...

Two forms of genetic instability have been described in colorectal cancer: chromosomal instability, characterized by structural and numerical chromosomal abnormalities and associated to aneuploidy; and microsatellite instability, characterized by a deficiency in the mismatch repair system that leads to slippage in microsatellites and is associated to euploidy. Thirteen colorectal cancer sample DNAs were analyzed after colectomy. High-resolution genome-wide DNA copy number and Single Nucleotide Polimorphism genotyping analysis was performed by Affymetrix SNP 6...