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BACKGROUND: Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequency of single nucleotide polymorphisms (SNPs) of ADIPOQ in Mexican women with BC and to determine if they show an association with it. METHODS: DNA samples from 397 patients and 355 controls were tested for the ADIPOQ gene SNPs: rs2241766 (GT) and rs1501299 (GT) by TaqMan allelic discrimination assay. Hardy-Weinberg equilibrium (HWE) was tested. Multiple SNP inheritance models adjusted by age and body mass index (BMI) were examined for the SNP rs1501299. RESULTS: We found that in the frequency analysis of rs1501299 without adjusting the BMI and age, the genotype distribution had a statistically significant difference (P = 0.003). The T allele was associated with a BC risk (OR, 1.99; 95% CI 1.13-3.51, TT vs. GG; OR, 1.53; 95% CI 1.12-2.09, GT vs. GG). The SNP rs2241766 was in HW disequilibrium in controls. In conclusion, the rs1501299 polymorphism is associated with a BC risk. CONCLUSIONS: Identification of the genotype of these polymorphisms in patients with BC can contribute to integrate the risk profile in both patients and their relatives as part of a comprehensive approach and increasingly more personalized medicine.
Subject(s)
Adiponectin/genetics , Breast Neoplasms/genetics , Genetic Predisposition to Disease/genetics , Polymorphism, Single Nucleotide , Adult , Alleles , Body Mass Index , Breast Neoplasms/diagnosis , Female , Gene Frequency , Genotype , Humans , Linkage Disequilibrium , Mexico , Middle AgedABSTRACT
The population that lives in areas where organochlorine pesticides were spread in the past is still exposed to them through contaminated food, particulate matter, and vapors. Due to their lipophilic properties and resistance to metabolic reactions, they accumulate in tissues and fluids rich in lipids. The aim of the study was to monitor the concentrations of organochlorine pesticides in forensic adipose tissue samples of adult inhabitants of Veracruz City, Mexico, and compare their time trend levels from 1988 to 2014. During the study, hexachlorobenzene (HCB); lindane; ß-hexachorocyclohexane; p,p'-dichlorodiphenyldichloroethylene (pp'DDE); p,p'-dichlorodiphenyldichloroethane (p,p'-DDT); and o,p'-dichlorodiphenyldichloroethane (o,p'-DDT) were determined. Our survey was divided into two periods: first, from the years 1988 to 1999, during which DDT was allowed to fight malaria and dengue vectors and the second from the years 2001 to 2014, after the DDT ban. A total of 1435 samples were analyzed. There were substantial differences in the forecasted time trend values of p,p'-DDE and p,p'-DDT in human adipose tissue samples in the two different periods. During the first period, p,p'-DDE decrease time trend was 1.198 mg/kg on lipid base per year; for the second one, decrease was 0.128 mg/kg on lipid base per year. p,p'-DDT decreased 0.507 mg/kg on lipid base during the first period and 0.039 mg/kg on lipid base for the second. The different concentrations may be explained by the cessation of fresh exposure after the first period and a more equilibrated decontamination tendency during the second period. This model was useful to show the decrease in the concentration of pesticides in human adipose tissue samples.
Subject(s)
Adipose Tissue/chemistry , Environmental Exposure/analysis , Environmental Pollutants/analysis , Hydrocarbons, Chlorinated/analysis , Pesticide Residues/analysis , Adult , Female , Forensic Toxicology , Humans , Mexico , Time FactorsABSTRACT
OBJECTIVE: The reasons for failure of surgical treatment for mesial temporal lobe epilepsy (MTLE) associated with hippocampal sclerosis (HS) remain unclear. This retrospective study analyzed seizure, cognitive, and psychiatric outcomes, searching for factors associated with seizure relapse or cognitive and psychiatric deterioration after MTLE-HS surgery. METHODS: Seizure, cognitive, and psychiatric outcomes were reviewed after 389 surgeries performed between 1990 and 2015 on patients aged 15-67 years at a tertiary center. Three surgical approaches were used: anterior temporal lobectomy (ATL; n = 209), transcortical selective amygdalohippocampectomy (SAH; n = 144), and transsylvian SAH (n = 36). RESULTS: With an average follow-up of 8.7 years (range = 1.0-25.2), seizure outcome was classified as Engel I in 83.7% and Engel Ia in 57.1% of patients. The histological classification of HS was type 1 for 75.3% of patients, type 2 for 18.7%, and type 3 for 1.2%. Two factors were significantly associated with seizure recurrence: past history of status epilepticus and preoperative intracranial electroencephalographic recording. In contrast, neither HS type, the presence of a dual pathology, nor surgical approach was associated with seizure outcome. Risk of cognitive impairment was 3.12 (95% confidence interval = 1.27-7.70), greater in patients after ATL than in patients after transcortical SAH. A presurgical psychiatric history and postoperative cognitive impairment were associated with poor psychiatric outcome. SIGNIFICANCE: The SAH and ATL approaches have similar beneficial effects on seizure control, whereas transcortical SAH tends to minimize cognitive deterioration after surgery. Variation in postsurgical outcome with the class of HS should be investigated further.
Subject(s)
Anterior Temporal Lobectomy/methods , Epilepsy, Temporal Lobe/complications , Epilepsy, Temporal Lobe/surgery , Hippocampus/pathology , Treatment Outcome , Adolescent , Adult , Aged , Cognition Disorders/etiology , Female , Humans , Longitudinal Studies , Male , Middle Aged , Postoperative Complications/diagnosis , Postoperative Complications/etiology , Predictive Value of Tests , Retrospective Studies , Sclerosis/etiology , Young AdultABSTRACT
INTRODUCTION: Hemangioblastoma (HB) is a benign tumor of the central nervous system, associated with von Hippel-Lindau disease (VHL), or sporadic. The aim of this study was to compare and examine the clinical-pathological profile of patients with spinal hemangioblastoma and YAP expression. METHODS: A retrospective, descriptive, comparative study. All patients who underwent surgery for spinal HB between 2016 and 2023 were included. Clinical and radiological data were collected and analyzed. An immunohistochemistry panel including NeuN, neurofilaments (NF), and YAP-1, was performed. RESULTS: Nine patients were studied, six women and three men. Four patients had previously diagnosed VHL. The tumor location included: four cervical (44.44%), two thoracic (22.22%), two pontine with cervical extension (22.22%) and one patient with two lesions, one cervical and one thoracic (11.11%). Non-significant clinical differences were identified between VHL and sporadic patients. Imaging evidenced seven extramedullary and three intramedullary tumors. Histologically, intra-tumoral and perivascular axonal tracts were observed in all cases. One third of the tumors (two with VHL and one sporadic) presented extramedullary hematopoiesis. Seven cases (77.8%) expressed nuclear YAP (three with VHL and four sporadic HBs). The surgical outcome was good and only one patient with VHL undergoing subtotal resection had recurrence. CONCLUSIONS: Spinal HBs can be associated with VHL or be sporadic. To the best of our knowledge, this is the first study to describe YAP expression in HB. It is important to investigate the involvement of the Hippo pathway in HBs as a possible therapeutic target.
Subject(s)
Hemangioblastoma , Transcription Factors , YAP-Signaling Proteins , von Hippel-Lindau Disease , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Adaptor Proteins, Signal Transducing/analysis , Hemangioblastoma/pathology , Hemangioblastoma/chemistry , Retrospective Studies , Spinal Cord Neoplasms/pathology , Spinal Cord Neoplasms/chemistry , Spinal Cord Neoplasms/surgery , Spinal Neoplasms/pathology , Spinal Neoplasms/chemistry , Transcription Factors/analysis , von Hippel-Lindau Disease/complications , von Hippel-Lindau Disease/pathologyABSTRACT
Background: Hypertrophic pachymeningitis (HP) is a disease with diverse aetiologies, including the autoimmune one, either associated with antineutrophil cytoplasmic antibodies or immunoglobulin G4. Case description: A 65-year-old woman with a history of systemic arterial hypertension, presented with intense progressive headaches. HP and hemispheric vasogenic oedema were observed by nuclear magnetic resonance (NMR) study. During the six months before the headache, she had developed progressive hearing loss which she attributed to age. A biopsy of dura mater showed necrotising vasculitis with peripheral inflammatory infiltrate, made up of accumulations of epithelioid cells and multinucleated giant cells, and abundant eosinophils. A final diagnosis of HP with eosinophilic granulomatosis with polyangiitis (EGPA) was made. Discussion: The patient had eosinophilic granulomatosis with polyangiitis (EGPA) histology, ANCA-negative serology and HP. This case is important because it shows that EGPA seems to have a spectrum of clinical diseases, including HP with negative serology, and bilateral sensorineural hearing loss. Conclusion: We are facing a wide spectrum of EGPA, breaking the paradigm of only systemic involvement. LEARNING POINTS: Hypertrophic pachymeningitis (HP) has several aetiologies; if the systemic investigation is not contributory to a diagnosis, a meningeal biopsy is necessary.This is the first case report of HP, associated with eosinophilic granulomatosis with polyangiitis (EGPA), and ANCA-negative serology.EGPA is probably a spectrum of diseases with predominant systemic involvement, but there may be cases where there is histological evidence, without the systemic context or positive serology.
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Background Predicting criminal behavior is a complex task due to its multidimensional nature. Nevertheless, health professionals and criminologists must consider individual criminogenic risk factors to provide reliable expert opinions. Physical traits have been a subject of scrutiny since the inception of biological positivism. Aim The main objective of this study is to analyze differences in individual characteristics between violent offenders and healthy volunteers to potentially identify predictors of criminal behavior. Methods We conducted a case-control study with a sample of inmates convicted of violent offenses and compared them to healthy volunteers. Anthropometrics, sociodemographic data, drug consumption, characteristics of the family nucleus, clinical background, and basic laboratory test results were collected. Quantitative data were tested for normality and homogeneity before applying the Mann-Whitney or T-Student tests, respectively. For categorical data, Pearson's chi-square test was used for associations, and the odds ratio was determined for the associated risk in drug abuse profiles. Results Among the male participants (N = 72), the inmate group (n = 41) showed significantly lower stature (mean height [m]: 1.7454 ± 0.0694 vs 1.6643 ± 0.0659, p < 0.001), a reduced left D2:D4 finger length ratio (mean ratio [cm]: 0.9638 ± 0.0572 vs 0.9380 ± 0.068cm, p < 0.05), and smaller anthropometric measurements, including armful (mean length [m]: 1.8080 ± 0.7690 vs 1.6582 ± 0.7250, p < 0.001), wrist (mean [cm]: 17.39 ± 1.10 vs 16.57 ± 1.84, p < 0.05), mid-upper arm (mean [cm]: 31.75 ± 3.79 vs 29.97 ± 3.79, p < 0.05), and head circumferences (mean [cm]: 58.43 ± 1.92 vs 55.39 ± 1.51, p < 0.001). Additionally, the inmate group exhibited shorter lower segments (mean [cm]: 102.67 ± 4.97 vs. 97.85 ± 5.04, p < 0.001) and plantar lengths (mean [cm]: 27.45 ± 1.25 vs. 26.78 ± 1.00, p < 0.05). Furthermore, this group displayed a higher risk of alcohol (OR = 4.4, p < 0.01), cocaine (OR = 3.36, p < 0.05), and benzodiazepine consumption (OR = 3.36, p < 0.05). Parental alcohol consumption (χ² = 12.66, p < 0.01) and the practice of Protestantism (χ² = 20.087, p < 0.001) were also associated with the inmate group. Conclusion Physical traits may be considered potential criminogenic risk factors, but larger studies are necessary to validate these findings. Future research should take into account physiological and psychological correlates to gain a comprehensive understanding of the complex relationship between physical traits and criminal behavior.
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Subependymal giant cell astrocytoma (SEGA) is a rare, slow-growing tumor with a dual (neuroglial) component that is typically associated with tuberous sclerosis complex (TSC). We present the case of a healthy 19-year-old man with mild occipital trauma followed by two weeks of intense headache, with no response to analgesics. Imaging studies revealed a well-defined tumor in the left paraventricular zone. A biopsy showed a SEGA (GFAP+, NF+, nestin+, CK-EA3/EA4+, and TTF1+). TSC was ruled out. An immunohistochemistry (IHC) panel showed aberrant cytoplasmic expression of octamer-binding transcription factor 4 (OCT-4) in endothelial cells, pericytes, and some astrocyte-type cells; integrase interactor 1 (INI-1) expression was observed in the cytoplasm of neoplastic cells; SEGA was not associated with TSC; the expression of nestin and OCT-4 suggested their origin in neuroepithelial stem cells; thyroid transcription factor 1 (TTF-1) expression supported its origin in diencephalic structures. Tuberin expression was decreased. An aberrant pattern of INI-1 was observed, which, together with OCT-4 findings, has not been previously described.
ABSTRACT
Behçet's disease (BD) is an autoimmune disease characterized by multisystemic variable-vessel vasculitis and oral, genital, and intestinal ulcers. Neurological involvement or "Neuro-Behçet" (NB) manifests due to parenchymal inflammation. We present the case of a 21-year-old male with a five-year-old history of intermittent chronic oral and genital ulcers who presented with headache, right hemiparesis, progressive loss of visual acuity, and a thalamic tumor-like lesion on magnetic resonance imaging (MRI). A brain biopsy showed multiple perivascular infarcts associated with vasculitis affecting arterioles, venules, and capillaries.
ABSTRACT
Steven-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are part of a spectrum of severe cutaneous adverse reactions, secondary to infections or drug-induced. Although the use of antiseizure medications (ASMs) is a risk factor for the development of SJS/TEN, primary care physicians are not familiar with these cases in some countries. We report a case of SJS associated with ASMs in a nine-year-old girl with a history of difficult-to-control epilepsy, who required adjustment and change in medications.
ABSTRACT
Anthurium schlechtendalii Kunth is used by the Zoque group in southeastern Mexico for kidney and urinary diseases, but its safety and effectiveness are unproven, therefore a model of adenine-induced renal failure in rats was performed. The rats were fed with solid and aqueous plant extracts for 4 weeks to study its effects on kidney histological morphology. Kidneys were examined, and statistical analysis was performed. The adenine-containing diet caused renal failure, characterized by crystal deposits, cystic dilatation of tubules, and micro-abscesses. Both extracts caused tubular damage and collagen increase without inflammation. However, when combined with adenine, the extracts showed some protective effects, although cystic dilatation and granulomatous inflammation were observed. The extracts at the tested doses resulted in glomerular and tubular damage, aggravating cystic degeneration, therefore, its indiscriminate use in Humans is not safe. Additionally, the extracts can serve as a model for studying renal damage without crystal deposits.
Subject(s)
Araceae , Kidney Diseases , Renal Insufficiency , Adult , Humans , Rats , Animals , Rats, Wistar , Kidney Diseases/chemically induced , Kidney , Adenine/toxicity , Inflammation , Plant Extracts/pharmacologyABSTRACT
Gangliogliomas are central nervous system (CNS) tumors with a neuronal and glial component considered grade 1 according to the World Health Organization (WHO) classification. On the other hand, oligodendrogliomas are diffuse infiltrating gliomas (CNS WHO grade 2 or 3) characterized by both an isocitrate dehydrogenase mutation and 1p/19q co-deletion. There have been some cases with the coexistence of these two tumors. Here, we present the case of a low-growing left frontoparietal brain tumor with a definite diagnosis of ganglioglioma (CNS WHO grade 1) and oligodendroglioma (CNS WHO grade 2) with areas of anaplastic oligodendroglioma (CNS WHO grade 3) in a patient with long-standing epilepsy.
Subject(s)
Brain Neoplasms/pathology , Glioblastoma/pathology , Gliosarcoma/pathology , Neoplasm Recurrence, Local/pathology , Tryptases/biosynthesis , Biomarkers, Tumor/analysis , Disease Progression , Dura Mater/pathology , Fatal Outcome , Female , Gliosarcoma/complications , Humans , Immunohistochemistry , Middle Aged , Osteolysis/etiology , Osteolysis/pathology , Tryptases/analysisABSTRACT
OBJECTIVE: To study the pre- and transoperative factors that influence patients' survival with GM. METHODS: Clinical and pathological records of all confirmed cases of GM diagnosed between 2000 and 2006 were included. Postoperative survival was divided in less or more than 8 months. χ2 test was used. RESULTS: One hundred and twenty patients (45 women and 75 men) were studied. Age range was from 7 to 85 years, 3.3% were 16 years old or younger and 12.5% were 70 years old or older. Headache was the most frequent complain, 40 patients developed hemiparesia and 6 had parestesias. Predominance of white matter hemispheric lesions was observed: right hemispheric tumors 65 (54%), left lesions 30 (25%) and bilateral tumors 7%. Histologically, 1.6% of GM had a sarcomatous component; 35% of patients survived less than 8 months. A difference between patients survival was the preoperative Karnofsky Performance Scale Score and the degree of cerebral edema during the surgical procedure. CONCLUSIONS: Pre-operative Karnofsky evaluation and edema during the surgical procedure were significant prognostic factors for survival.
Subject(s)
Brain Neoplasms/mortality , Brain Neoplasms/surgery , Glioblastoma/mortality , Glioblastoma/surgery , Adolescent , Adult , Aged , Aged, 80 and over , Child , Cross-Sectional Studies , Female , Humans , Male , Mexico , Middle Aged , Prognosis , Retrospective Studies , Survival Rate , Young AdultABSTRACT
BACKGROUND: Germline mutations in E-cadherin (CDH1) gene are associated with autosomal-dominantly inherited cancer syndrome characterized by diffuse gastric cancer, lobular breast cancer, and in some families, cleft lip/palate. However, there may be generations in which these neoplasms do not occur at all in a family and later on, one or another carcinoma arises, which makes it difficult for physicians to think about hereditary origin. METHODS: We report the first Mexican family with CDH1 mutation (variant c.377del). RESULTS: An asymptomatic young woman underwent a search for mutations in susceptibility genes for breast cancer due to the history of this neoplasm in her mother and maternal aunt. A CDH1 mutation was detected. After an endoscopy, a diffuse gastric carcinoma was found. Later on, three generations of this family were studied. The findings are presented. CONCLUSION: Medical communities should be aware of the contribution of this gene in the development of hereditary diffuse gastric carcinoma (HDGC) and breast cancer.
Subject(s)
Antigens, CD/genetics , Breast Neoplasms/genetics , Cadherins/genetics , Carcinoma/genetics , Gene Deletion , Stomach Neoplasms/genetics , Adult , Aged , Aged, 80 and over , Breast Neoplasms/pathology , Carcinoma/pathology , Female , Humans , Male , Mexico , Middle Aged , Pedigree , Stomach Neoplasms/pathologyABSTRACT
OBJECTIVE: We describe the methodology used to analyze multiple transcripts using microarray techniques in simultaneous biopsies of muscle, adipose tissue and lymphocytes obtained from the same individual as part of the standard protocol of the Genetics of Metabolic Diseases in Mexico: GEMM Family Study. METHODS: We recruited 4 healthy male subjects with BM1 20-41, who signed an informed consent letter. Subjects participated in a clinical examination that included anthropometric and body composition measurements, muscle biopsies (vastus lateralis) subcutaneous fat biopsies anda blood draw. All samples provided sufficient amplified RNA for microarray analysis. Total RNA was extracted from the biopsy samples and amplified for analysis. RESULTS: Of the 48,687 transcript targets queried, 39.4% were detectable in a least one of the studied tissues. Leptin was not detectable in lymphocytes, weakly expressed in muscle, but overexpressed and highly correlated with BMI in subcutaneous fat. Another example was GLUT4, which was detectable only in muscle and not correlated with BMI. Expression level concordance was 0.7 (p< 0.001) for the three tissues studied. CONCLUSIONS: We demonstrated the feasibility of carrying out simultaneous analysis of gene expression in multiple tissues, concordance of genetic expression in different tissues, and obtained confidence that this method corroborates the expected biological relationships among LEPand GLUT4. TheGEMM study will provide a broad and valuable overview on metabolic diseases, including obesity and type 2 diabetes.
Subject(s)
Gene Expression Profiling/methods , Lymphocytes , Muscle, Skeletal , Subcutaneous Fat , Adult , Humans , Lymphocytes/chemistry , Male , Mexico , Muscle, Skeletal/chemistry , RNA/analysis , Subcutaneous Fat/chemistryABSTRACT
Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is a heterogeneous syndrome. Surgery results in seizure freedom for most pharmacoresistant patients, but the epileptic and cognitive prognosis remains variable. The 2013 International League Against Epilepsy (ILAE) histopathological classification of hippocampal sclerosis (HS) has fostered research to understand MTLE-HS heterogeneity. We investigated the associations between histopathological features (ILAE types, hypertrophic CA4 neurons, granule cell layer alterations, CD34 immunopositive cells) and clinical features (presurgical history, postsurgical outcome) in a monocentric series of 247 MTLE-HS patients treated by surgery. NeuN, GFAP and CD34 immunostainings and a double independent pathological examination were performed. 186 samples were type 1, 47 type 2, 7 type 3 and 7 samples were gliosis only but no neuronal loss (noHS). In the type 1, hypertrophic CA4 neurons were associated with a worse postsurgical outcome and granule cell layer duplication was associated with generalized seizures and episodes of status epilepticus. In the type 2, granule cell layer duplication was associated with generalized seizures. CD34+ stellate cells were more frequent in the type 2, type 3 and in noHS. These cells had a Nestin and SOX2 positive, immature neural immunophenotype. Patients with nodules of CD34+ cells had more frequent dysmnesic auras. CD34+ stellate cells in scarce pattern were associated with higher ratio of normal MRI and of stereo-electroencephalographic studies. CD34+ cells were associated with a trend for a better postsurgical outcome. Among CD34+ cases, we proposed a new entity of BRAF V600E positive HS and we described three hippocampal multinodular and vacuolating neuronal tumors. To conclude, our data identified new clinicopathological associations with ILAE types. They showed the prognostic value of CA4 hypertrophic neurons. They highlighted CD34+ stellate cells and BRAF V600E as biomarkers to further decipher MTLE-HS heterogeneity.
Subject(s)
Epilepsy, Temporal Lobe/metabolism , Epilepsy, Temporal Lobe/pathology , Hippocampus/metabolism , Hippocampus/pathology , Adult , Antigens, CD34/metabolism , Biomarkers/metabolism , Cohort Studies , Electroencephalography , Epilepsy, Temporal Lobe/diagnostic imaging , Epilepsy, Temporal Lobe/surgery , Female , Gliosis/diagnostic imaging , Gliosis/metabolism , Gliosis/pathology , Gliosis/surgery , Hippocampus/diagnostic imaging , Hippocampus/surgery , Humans , Intermediate Filament Proteins/metabolism , Male , Prognosis , Proto-Oncogene Proteins B-raf/genetics , Proto-Oncogene Proteins B-raf/metabolism , Sclerosis/diagnostic imaging , Sclerosis/metabolism , Sclerosis/pathology , Sclerosis/surgeryABSTRACT
Alzheimer disease neuropathology is characterized by the extracellular accumulation of Aß peptide and intracellular aggregation of hyperphosphorylated tau. With the progression of the disease, macroscopic atrophy affects the entorhinal area and hippocampus, amygdala, and associative regions of the neocortex. The locus coeruleus is depigmented. The deposition of Aß is first made of diffuse deposits. Amyloid focal deposits constitute the core of the senile plaque which also comprises a corona of tau-positive neurites. Aß deposits are found successively in the neocortex, the hippocampus, the striatum, the mesencephalon, and finally the cerebellum together with the pontine nuclei (Thal phases). Tau pathology affects in a stereotyped order some specific nuclei of the brainstem, the entorhinal area, the hippocampus, and the neocortex - first the associative areas and secondarily the primary cortices (Braak stages). Loss of synapses is observed in association with tau and Aß pathology; neuronal loss occurs in the most affected areas. Granulovacuolar degeneration and perisomatic granules are also linked to Alzheimer disease pathology. The physiopathology of Alzheimer disease remains unknown. Familial cases suggest that Aß deposition is the initial step, but tau pathology appears early in the course and seems to be better correlated with the symptoms.
Subject(s)
Alzheimer Disease , Central Nervous System/pathology , Alzheimer Disease/genetics , Alzheimer Disease/metabolism , Alzheimer Disease/pathology , Amyloid beta-Peptides/metabolism , Central Nervous System/metabolism , Humans , tau Proteins/metabolismABSTRACT
BACKGROUND: Low-penetrance susceptibility genes such as 5,10-methylenetetrahydrofolate reductase gene (MTHFR) have been considered in the progression of breast cancer (BC). Cancer is a result of genetic, environmental and epigenetic interactions; therefore, these genes should be studied in environmental context, because the results can vary between populations and even within the same country. The objective was to analyze the allelic and genotypic frequencies of the MTHFR C667T SNP in Mexican Mestizo patients with BC and controls from Northeastern Mexico. METHODS: 243 patients and 118 healthy women were studied. The analysis of the polymorphism was performed with a DNA microarray. Once the frequency of the polymorphism was obtained, Hardy-Weinberg equilibrium test was carried out for the genotypes. Chi square test was used to compare the distribution of frequencies. RESULTS: The allele frequency in patients was: C = 0.5406; T = 0.4594 and in controls C = 0.5678, T = 0.4322. Genotype in BC patients was: C / C = 29.9%, C / T = 48.3% and T / T = 21.8. The distribution in controls was: C / C = 31.4%, C / T = 50.8%, T / T = 17.8% (chi squared 0.77, p = 0.6801). CONCLUSIONS: Northeastern Mexican women in this study showed no association between MTFHR C667T SNP and the risk of BC. It seems that the contribution of this polymorphism to BC in Mexico varies depending on various factors, both genetic and environmental.
INTRODUCCIÓN: existen genes de susceptibilidad de baja penentrancia, como el gen de la 5,10-metilentetrahidrofolato reductasa (MTHFR), que participan en la progresión del cáncer de mama (CM). El cáncer es resultado de interacciones genéticas, ambientales y epigenéticas. Estos genes deben ser estudiados en el contexto del medio ambiente, ya que los resultados pueden variar de una población a otra, incluso dentro del mismo país. El objetivo fue analizar las frecuencias alélicas y genotípicas del polimorfismo C667T del gen de la MTHFR en pacientes mestizos mexicanos con CM y controles del noreste de México. MÉTODOS: se estudiaron 243 pacientes y 118 mujeres sanas. El análisis del polimorfismo se realizó con una microarreglo de ADN. Una vez que se obtuvo la fre cuencia del polimorfismo, la prueba de equilibrio de Hardy-Weinberg se llevó a cabo para los genotipos. Se utilizó chi cuadrada para comparar la distribución de frecuencias. RESULTADOS: la frecuencia de los alelos en los pacientes fue: C = 0.5406, T = 0.4594 y en los controles C = 0.5678, T = 0.4322. El genotipo en pacientes con CM fue: C / C = 29.9%, C / T = 48.3% y T / T = 21.8. La distribución en los controles fue: C / C = 31.4%, C / T = 50.8%, T / T = 17.8% (chi cuadrada 0.77, p = 0.6801). CONCLUSIONES: en este estudio no se observó relación entre el SNP MTFHR C667T y el riesgo de CM. Al parecer la contribución de este polimorfismo al CM en México varía dependiendo de varios factores tanto genéticos como ambientales.
Subject(s)
Biomarkers, Tumor/genetics , Breast Neoplasms/genetics , Genetic Predisposition to Disease , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Polymorphism, Single Nucleotide , Adult , Case-Control Studies , Female , Gene Frequency , Genotype , Humans , Mexico , Middle Aged , Oligonucleotide Array Sequence AnalysisABSTRACT
In the daily practice of forensic pathology, sudden cardiac death (SCD) is a diagnostic challenge. Our aim was to determine the usefulness of blood biomarkers [creatine kinase CK-MB, myoglobin, troponins I and T (cTn-I and T), and lactate dehydrogenase] measured by immunoassay technique, in the postmortem diagnosis of SCD. Two groups were compared, 20 corpses with SCD and 8 controls. Statistical significance was determined by variance analysis procedures, with a post hoc Tukey multiple range test for comparison of means (p < 0.05). SCD cases showed significantly higher levels (p < 0.05) of cTn-T and cTn-I compared to the control group. Although only cases within the first 8 h of postmortem interval were included, and the control group consisted mainly of violent death cases, our results suggest that blood troponin levels may be useful to support a diagnosis of SCD.
Subject(s)
Creatine Kinase, MB Form/blood , Death, Sudden, Cardiac , L-Lactate Dehydrogenase/blood , Myoglobin/blood , Troponin I/blood , Troponin T/blood , Adult , Aged , Aged, 80 and over , Biomarkers/blood , Case-Control Studies , Female , Forensic Pathology , Humans , Immunoassay , Male , Middle AgedABSTRACT
UNLABELLED: Coccidioidomycosis (CM) is primarily a lung disease. Systemic spread occurs in 1% of cases and one of its manifestation is osteoarthritis. AIM: To describe the clinical and pathological characteristics of 36 patients with osteoarthritis by Coccidioides immitis (COA). MATERIAL AND METHODS: The surgical pathology records of two medical institutions were reviewed; patients with clinical diagnosis of osteoarthritis and definitive histopathological diagnosis of COA were included in the study. Results were analyzed by contingence tables (RXC) and chi2 test. RESULTS: Twenty six adults (19 men, seven women) and 10 children (seven males, three females) were studied. The chi2 analysis demonstrated a predominance of disease in men (72.2%, p = 0.008). There was no difference between males and females in relation to history of mycotic disease or diagnosis of lung disease after the diagnosis of COA. Bone involvement (76% of cases) was more frequent that pure joint lesions and the predominant radiological lesion was of lytic type. 30.5% of patients (11 cases) had multiple bone lesions and eight of them were men with multiple vertebral bone lesions. DISCUSSION: The COA was the only manifestation of disease in 83% of the patients. Therefore is important to consider this etiology in patients of endemic area. The clinical and radiological spectrum of COA is wide and may include a dentigerous and synovial cyst or simulates metastatic disease. The recognition of the clinical manifestations of COA may contribute to an opportune diagnosis and treatment.