Analyzing results of cervical sagittal parameters in patients operated with polyetheretherketone cages without plate.

Study Design: This was a retrospective longitudinal observational study. Purpose: The purpose of this study was to analyze the results of cervical sagittal parameters on preoperative and postoperative lateral radiographs in anterior cervical discectomy and fusion (ACDF). ACDF is believed to change craniocervical parameters and thus cervical curvature using polyetheretherketone (PEEK) or titanium cages with or without self-locking as well as an anterior plate, the latter of which has not been shown to provide better clinical or radiological results. Overview of Literature: Cervical spondylotic myelopathy (CSM) is a common degenerative pathology that can affect one or more levels and treatment has varied over time trying to maintain sagittal parameters within acceptable values where the ACDF is the main treatment. Materials and Methods: The study was performed in patients with CSM who underwent anterior cervical discectomy, and their pre- and postoperative radiographs were analyzed using Surgimap software a few days before and 3 months after surgery. Results: Fifteen files were included in the study. Statistically significant sagittal balance variables were observed in cervical lordosis (CL) with an increase of 4.73° (P = 0.019) and T1 slope (T1S)-CL with a decrease of -5.93° (P = 0.007). Conclusions: CL and T1S-CL showed favorably modified values when performing ACDF using stand-alone PEEK cages without the need for self-blocking or an anterior plate.

Proximal humeral fractures: association between displacement and fatty degeneration of the supraspinatus muscle.

INTRODUCTION: To evaluate the relationship between initial displacement in proximal humeral fractures and fatty degeneration of the rotator cuff measured by CT according to the Goutallier classification. MATERIAL AND METHODS: This cross-sectional observational study evaluated patients with proximal humeral fractures over a six-month period. The study included patients ≥ 18 years old with complete radiological views (anteroposterior, lateral, and Grashey) and a CT scan of the affected shoulder; previous fracture or ipsilateral shoulder surgery were excluded. Neer's classification system and Goutallier stages were used to evaluate the patients. Demographic data were collected and, two groups were analysed according to age (≤ 50 years and > 50 years). RESULTS: Sixty-two patients were included (m = 36, f = 26, ratio 1.3:1); seven patients were excluded. Male patients (36, 58.1%), patients older than 50 years (33, 53.2%) and a low-energy injury mechanism (36, 58.1%) were the most frequent cases. According to the Neer system, the most common proximal humerus fracture was fracture-dislocation in 17 (27.4%) cases. The most common stage in Goutallier's classification was I (some fatty streaks) in 22 (35.4%) cases. Younger patients (≤ 50 years) had more displaced fractures with low fatty degeneration (p = < 0.001) than older patients (> 50 years), who had minimally displaced fractures with greater fatty degeneration (p = 0.567). CONCLUSIONS: High-energy mechanisms are associated with younger patients and a more displaced fracture according to the Neer classification. Older patients had a more advanced Goutallier stage and lesser displaced fracture. We should consider a more aggressive approach in the treatment of non-displaced fractures in elderly patients, less conservative and more surgical management, to obtain a better clinical evolution after the treatment of these kinds of fractures. LEVEL OF EVIDENCE: IV.

Presymptomatic Testing for Huntington's Disease in Mexico: 28 Years of Experience.

INTRODUCTION: Huntington's disease (HD) is a genetic neurodegenerative disorder with dominant inheritance. Our center in Mexico City has offered presymptomatic testing (PT) since 1995. OBJECTIVE: To describe the main clinical and demographic characteristics of at-risk HD individuals who applied to the PT program, the reasons for seeking it, and the molecular results. METHODS: A cross-sectional study was conducted with sociodemographic and clinical data of all PT applicants from 1995-2023. Reasons for seeking PT were assessed using a modified questionnaire. In addition, anxiety, and depressive symptoms before and after PT were evaluated with Beck's instruments; cognitive impairment (CI) was assessed with the Mini-Mental State Examination (MMSE) and molecular results. RESULTS: 214 people applied for PT (2.1% of the at-risk population identified in our center); 63% were women (mean age of 37.11 years). 204 (95.3%) were accepted and 190 received results. 70% indicated that the main reason for applying for PT was to inform their offspring about the risk of inheriting HD. Significant differences were observed in the reasons for seeking PT by age group. Although some subjects received treatment, Beck's instrument scores did not indicate special attention or pharmacological treatment. The MMSE showed probable CI in 20 subjects. Of those who received results, 37% were carriers of a full penetrance allele. CONCLUSION: Our center has the only formal PT program for HD in Mexico. The reasons for seeking PT are varied and age-related. Although PT is offered to all subjects at risk for HD, uptake remains low.

Association of variants in the ABCB1, CYP2C19 and CYP2C9 genes for Juvenile Myoclonic Epilepsy.

Juvenile myoclonic epilepsy (JME) is the most common of the generalized genetic epilepsies, with multiple causal and susceptibility genes; however, its etiopathogenesis is mainly unknown. The toxic effects caused by xenobiotics in cells occur during their metabolic transformation, mainly by enzymes belonging to cytochrome P450. The elimination of these compounds by transporters of the ABC type protects the central nervous system, but their accumulation causes neuronal damage, resulting in neurological diseases. The present study has sought the association between single nucleotide genetic variants of the CYP2C9, CYP2C19, and ABCB1 genes and the development of JME in patients compared to healthy controls. The CC1236 and GG2677 genotypes of ABCB1 in women; allele G 2677, genotypes GG 2677 and CC 3435 in men; the CYP2C19*2A allele, and the CYP2C19*3G/A genotype in both sexes were found to be risk factors for JME. Furthermore, carriers of the TTGGCC genotype combination of the ABCB1 gene (1236/2677/3435) have a 10.5 times higher risk of developing JME than non-carriers. Using the STRING database, we found an interaction between the proteins encoded by these genes and other possible proteins. These findings indicate that the CYP450 system and ABC transporters could interact with other genes in the JME.

Low quality of life, increased number of anti-seizure drugs, and the lack of caregiver support are associated with internalized stigma in adult Mexican patients with epilepsy.

BACKGROUND: People with epilepsy (PWE) have been subject to stigma throughout history, a factor that could compromise their performance in daily life. In Mexico, little is known about the factors that may be affecting internalized stigma. OBJECTIVE: To evaluate the internalized stigma in adult PWE, its relationship with the quality of life, cognitive and depressive symptomatology, and clinical-demographic characteristics. MATERIAL AND METHODS: We conducted a cross-sectional study with a consecutive sampling approach in patients with epilepsy treated at the National Institute of Neurology and Neurosurgery Manuel Velasco Suárez (NINNMVS). Sociodemographic and clinical data, depressive symptomatology (Beck's depression inventory, DBI), cognition (MoCA test), quality of life (QOLIE-31 scale), and internalized stigma (King's internalized stigma scale, ISS) were evaluated. Correlations were made between the continuous variables and the ISS to select those with statistical significance and include them in a multiple linear regression model, along with the dummy variables, to explain internalized stigma. RESULTS: Of 128 patients, 74 (58%) were women; 38% of the patients had more than 20 years of epilepsy evolution. In addition, 39% presented depressive symptoms, and around 60% manifested a possible cognitive impairment. The variables that showed statistical significance concerning the ISS were selected along with dummy variables for multiple linear regression analysis. The resultant model considers the QOLIE-31 total score (ß = -0.489), the number of anti-seizure drugs (ASD, ß = 0.253), and those patients without caregiver support (ß = -0.166) with an adjusted R2 value of 0.316. CONCLUSIONS: A diminishing quality of life, an increased number of ASD, and patients without caregiver support influence a slight to moderate variation of internalized stigma in Mexican PWE. Therefore, it is necessary to continue studying other possible factors that influence internalized stigma to generate effective strategies to reduce its negative effects on PWE.

A machine learning model for predicting serum neutralizing activity against Omicron SARS-CoV-2 BA.2 and BA.4/5 sublineages in the general population.

Supervised machine learning (ML) methods have been used to predict antibody responses elicited by COVID-19 vaccines in a variety of clinical settings. Here, we explored the reliability of a ML approach to predict the presence of detectable neutralizing antibody responses (NtAb) against Omicron BA.2 and BA.4/5 sublineages in the general population. Anti-SARS-CoV-2 receptor-binding domain (RBD) total antibodies were measured by the Elecsys® Anti-SARS-CoV-2 S assay (Roche Diagnostics) in all participants. NtAbs against Omicron BA.2 and BA4/5 were measured using a SARS-CoV-2 S pseudotyped neutralization assay in 100 randomly selected sera. A ML model was built using the variables of age, vaccination (number of doses) and SARS-CoV-2 infection status. The model was trained in a cohort (TC) comprising 931 participants and validated in an external cohort (VC) including 787 individuals. Receiver operating characteristics analysis indicated that an anti-SARS-CoV-2 RBD total antibody threshold of 2300 BAU/mL best discriminated between participants either exhibiting or not detectable Omicron BA.2 and Omicron BA.4/5-Spike targeted NtAb responses (87% and 84% precision, respectively). The ML model correctly classified 88% (793/901) of participants in the TC: 717/749 (95.7%) of those displaying ≥2300 BAU/mL and 76/152 (50%) of those exhibiting antibody levels <2300 BAU/mL. The model performed better in vaccinated participants, either with or without prior SARS-CoV-2 infection. The overall accuracy of the ML model in the VC was comparable. Our ML model, based upon a few easily collected parameters for predicting neutralizing activity against Omicron BA.2 and BA.4/5 (sub)variants circumvents the need to perform not only neutralization assays, but also anti-S serological tests, thus potentially saving costs in the setting of large seroprevalence studies.

A performance comparison of two (electro) chemiluminescence immunoassays for detection and quantitation of serum anti-spike antibodies according to SARS-CoV-2 vaccination and infections status.

The information provided by SARS-CoV-2 spike (S)-targeting immunoassays can be instrumental in clinical-decision making. We compared the performance of the Elecsys® Anti-SARS-CoV-2 S assay (Roche Diagnostics) and the LIAISON® SARS-CoV-2 TrimericS IgG assay (DiaSorin) using a total of 1176 sera from 797 individuals, of which 286 were from vaccinated-SARS-CoV-2/experienced (Vac-Ex), 581 from vaccinated/naïve (Vac-N), 147 from unvaccinated/experienced (Unvac-Ex), and 162 from unvaccinated/naïve (Unvac-N) individuals. The Roche assay returned a higher number of positive results (907 vs. 790; p = 0.45; overall sensitivity: 89.3% vs. 77.6%). The concordance between results provided by the two immunoassays was higher for sera from Vac-N (Ï°: 0.58; interquartile ranges [IQR]: 0.50-0.65) than for sera from Vac-Ex (Ï°: 0.19; IQR: -0.14 to 0.52) or Unvac-Ex (Ï°: 0.18; IQR: 0.06-0.30). Discordant results occurred more frequently among sera from Unvac-Ex (34.7%) followed by Vac-N (14.6%) and Vac-Ex (2.7%). Antibody levels quantified by both immunoassays were not significantly different when <250 (p = 0.87) or <1000 BAU/ml (p = 0.13); in contrast, for sera ≥1000 BAU/ml, the Roche assay returned significantly higher values than the DiaSorin assay (p < 0.008). Neutralizing antibody titers (NtAb) were measured in 127 sera from Vac-Ex or Vac-N using a S-pseudotyped virus neutralization assay of Wuhan-Hu-1, Omicron BA.1, and Omicron BA.2. The correlation between antibody levels and NtAb titers was higher for sera from Vac-N than those from Vac-Ex, irrespective of the (sub)variant considered. In conclusion, neither qualitative nor quantitative results returned by both immunoassays are interchangeable. The performance of both assays was found to be greatly influenced by the vaccination and SARS-CoV-2 infection status of individuals.

Cumulative incidence of SARS-CoV-2 infection in the general population of the Valencian Community (Spain) after the surge of the Omicron BA.1 variant.

Studies investigating the cumulative incidence of and immune status against SARS-CoV-2 infection provide valuable information for shaping public health decision-making. A cross-sectional study on 935 participants, conducted in the Valencian Community (VC), measuring anti-SARS-CoV-2-receptor binding domain-RBD-total antibodies and anti-Nucleocapsid (N)-IgGs via electrochemiluminescence assays. Quantitation of neutralizing antibodies (NtAb) against ancestral and Omicron BA.1 and BA.2 variants and enumeration of SARS-CoV-2-S specific-IFNγ-producing CD4+ and CD8+ T cells was performed in 100 and 137 participants, respectively. The weighted cumulative incidence was 51.9% (95% confidence interval [CI]: 48.7-55.1) and was inversely related to age. Anti-RBD total antibodies were detected in 97% of participants; vaccinated and SARS-CoV-2-experienced (VAC-ex; n = 442) presented higher levels (p < 0.001) than vaccinated/naïve (VAC-n; n = 472) and nonvaccinated/experienced (UNVAC-ex; n = 63) subjects. Antibody levels correlated inversely with time elapsed since last vaccine dose in VAC-n (Rho, -0.52; p < 0.001) but not in VAC-ex (rho -0.02; p = 0.57). Heterologous booster shots resulted in increased anti-RBD antibody levels compared with homologous schedules in VAC-n, but not in VAC-ex. NtAbs against Omicron BA.1 were detected in 94%, 75%, and 50% of VAC-ex, VAC-n and UNVAC-ex groups, respectively. For Omicron BA.2, the figures were 97%, 84%, and 40%, respectively. SARS-CoV-2-S-reactive IFN-γ T cells were detected in 73%, 75%, and 64% of VAC-ex, VAC-n and UNVAC-ex, respectively. Median frequencies for both T-cell subsets were comparable across groups. In summary, by April 2022, around half of the VC population had been infected with SARS-CoV-2 and, due to extensive vaccination, displayed hybrid immunity.

Open Inferior glenohumeral joint dislocation with complete range of motion recovery: Case Report and literature review.

Luxatio erecta is an inferior glenohumeral dislocation. It is an uncommon pathology with a prevalence of 0.5% of all shoulder dislocations. An open luxatio erecta presentation is rarer. After an extensive literature search, we only could find three complete case reports. From these cases, 2 out of 3 developed complications such as infections and severely limited range of motion, especially in flexion and abduction. We report the case of a 39-year-old man with an open inferior glenohumeral joint dislocation with complete rotator cuff tear and fracture of the greater tuberosity secondary to a motor vehicle accident. He was treated with open reduction, glenohumeral capsulorrhaphy, and transosseous rotator cuff repair with good clinical outcome. In conclusion, an open inferior shoulder dislocation is rare, less than 0.1% of all dislocations, with a high incidence of nerve injury. We suggest prompt surgical treatment with immediate administration of antibiotic therapy, wound debridement, irrigation, open reduction, and repair of the rotator cuff as an adequate protocol and focused rehabilitation with early mobilization of the glenohumeral joint.

Ultrasonic Imaging and Sensors.

Ultrasound imaging is a wide research field, covering areas from wave propagation physics, sensors and front-end electronics to image reconstruction algorithms and software [...].

Índice de rendimiento biventricular del corazón fetal

Objetivo. Proponer un índice de rendimiento biventricular basado en los valores promedio de la duración del ciclo cardíaco de cada uno de los ventrículos, determinar la variable incluida en el estudio con la correlación estadística más significativa, establecer valores de referencia que permitan identificar el trabajo de cada ventrículo en función de dicha variable y obtener un índice de gasto biventricular equilibrado. Metodología. Estudio prospectivo y transversal en fetos de 168 gestantes, en embarazos entre las 16 y 38 semanas sin patologías materno-fetales. Se obtuvieron ondas de velocidad de flujo de ambas válvulas atrioventriculares y el tiempo total del ciclo sístole-diástole se calculó en milisegundos para cada válvula. Se calcularon promedios, desviación estándar y puntuación Z del tiempo sistólico-diastólico para cada ventrículo y el índice de rendimiento ventricular individual dividiendo el valor obtenido entre la frecuencia cardiaca fetal. Se obtuvo el valor promedio de ambos y este, al ser dividido por la frecuencia cardíaca, permitió obtener el índice de rendimiento biventricular para establecer la correlación entre este, la frecuencia cardiaca fetal y la edad de gestación. Resultados. Se halló valores de tiempo sistólico-diastólico en milisegundos para el ventrículo derecho de 420,8 (DE ±28,3) y para el ventrículo izquierdo de 418,8 (DE ±26,3), sin diferencias estadísticamente significativas (p=0,371). La correlación con la frecuencia cardíaca fetal resultó negativa para ambos ventrículos (-0,491 y -0,553; p<0,05). El tiempo promedio biventricular fue de 418,37 ms (± 20,59) y la correlación con la edad gestacional de 0,48 (p<0,05); la correlación con la frecuencia cardiaca fetal fue negativa, -0,50 (p<0,05). El índice de rendimiento biventricular mostró valores de 2,8 (extremos 2,4 (P5) y 3,4 (P95)). La correlación entre el índice de rendimiento biventricular y la frecuencia cardiaca fetal fue 0,78 (p<0,05), de menor grado (0,27) con la edad gestacional. Conclusiones. Se demostró que los tiempos sistólico-diastólicos de cada ventrículo no difirieron entre sí y se correlacionaron de manera negativa con la frecuencia cardiaca fetal. Se comprobó que es posible evaluar el ciclo cardíaco fetal de cada ventrículo mediante el índice de rendimiento ventricular, así como calificar con el índice de rendimiento biventricular el gasto cardíaco combinado como equilibrado.

Objectives: To propose a biventricular performance index based on the average values of the duration of the cardiac cycle of each of the ventricles, to determine the variable included in the study with the most significant statistical correlation, to establish reference values that allow the work of each ventricle to be identified according to this variable, and to obtain a balanced biventricular output index. Methodology: Prospective and cross-sectional study in fetuses of 168 pregnant women, in pregnancies between 16 and 38 weeks without maternal-fetal pathologies. Flow velocity waves were obtained from both atrioventricular valves and the total systole-diastole cycle time was calculated in milliseconds for each valve. Averages, standard deviation, and Z-score were calculated of the systolic-diastolic time for each ventricle and the individual ventricular performance index (VPI) were calculated by dividing the value obtained by the fetal heart rate (FHR). The average value of both was obtained and this, when divided by the heart rate, made it possible to obtain the biventricular performance index (BPI) to establish the correlation between this, the fetal heart rate and gestational age. Results: Systolic-diastolic time values in milliseconds for the right ventricle were 420.8 (SD ±28.3) and for the left ventricle 418.8 (SD ±26.3), with no statistically significant differences (p<0.371). The correlation with the FHR was negative for both ventricles: (-0.491 and -0.553; p<0.05). The mean biventricular time was 418.37 ms (±20.59) and the correlation with gestational age was 0.48 (p<0.05); the correlation with FHR was negative, -0.50 (p<0.05).The BPI showed values of 2.8 (extremes 2.4 (P5) and 3.4 (P95)). The correlation between BPI and FHR was 0.78 (p<0.05) and of lesser degree with gestational age (0.27; p<0.05). Conclusions: It was demonstrated that the systolic-diastolic times of each ventricle did not differ from each other and were negatively correlated with fetal heart rate. It was shown that it is possible to evaluate the fetal cardiac cycle of each ventricle by means of the ventricular performance index as well as to qualify with the biventricular performance index the combined cardiac output as balanced.

Modeling and Mathematical Analysis of the Dynamics of HPV in Cervical Epithelial Cells: Transient, Acute, Latency, and Chronic Infections.

The aim of this paper is to model the dynamics of the human papillomavirus (HPV) in cervical epithelial cells. We developed a mathematical model of the epithelial cellular dynamics of the stratified epithelium of three (basale, intermedium, and corneum) stratums that is based on three ordinary differential equations. We determine the biological condition for the existence of the epithelial cell homeostasis equilibrium, and we obtain the necessary and sufficient conditions for its global stability using the method of Lyapunov functions and a theorem on limiting systems. We have also developed a mathematical model based on seven ordinary differential equations that describes the dynamics of HPV infection. We calculated the basic reproductive number (R 0) of the infection using the next-generation operator method. We determine the existence and the local stability of the equilibrium point of the cellular homeostasis of the epithelium. We then give a sufficient condition for the global asymptotic stability of the epithelial cell homeostasis equilibrium using the Lyapunov function method. We proved that this equilibrium point is nonhyperbolic when R 0 = 1 and that in this case, the system presents a forward bifurcation, which shows the existence of an infected equilibrium point when R 0 > 1. We also study the solutions numerically (i.e., viral kinetic in silico) when R 0 > 1. Finally, local sensitivity index was calculated to assess the influence of different parameters on basic reproductive number. Our model reproduces the transient, acute, latent, and chronic infections that have been reported in studies of the natural history of HPV.

Intramedullary cervical spinal cord and cerebellar hemangioblastoma: A case report.

Background: Hemangioblastomas are benign tumors that develop in the central nervous system. They represent 1.5-2.5% of all intracranial tumors, and about 2-15% of all spinal cord tumors. They are highly associated with von Hippel-Lindau disease. Case Description: A 36-year-old female presented with a 4-year history of progressive right upper extremity distal weakness and cervical pain. The magnetic resonance imaging demonstrated a homogeneously, contrast enhancing intradural/intramedullary tumor at C6-C7 with perilesional edema and a syrinx accompanied by a cerebellar cyst with a mural nodule. Surgery included excision of the spinal lesion and decompression and excision of the cerebellar cyst and mural nodule (i.e., median suboccipital craniectomy and cervical C5-C7 laminectomy). Conclusion: Surgery is the gold standard treatment for symptomatic hemangioblastomas, and surgical approaches should minimize risk.

Plane Wave Imaging through Interfaces.

Plane Wave Imaging (PWI) has been recently proposed for fast ultrasound inspections in the Non-Destructive-Testing (NDT) field. By using a single (or a reduced number) of plane wave emissions and parallel beamforming in reception, frame rates of hundreds to thousands of images per second can be achieved without significant image quality losses with regard to the Total Focusing Method (TFM) or Phased Array (PA). This work addresses the problem of applying PWI in the presence of arbitrarily shaped interfaces, which is a common problem in NDT. First, the mathematical formulation for generating a plane wave inside a component of arbitrary geometry is given, and the characteristics of the resultant acoustic field are analyzed by simulation, showing plane wavefronts with non-uniform amplitude. Then, an imaging strategy is proposed, accounting for this amplitude effect. Finally, the proposed method is experimentally validated, and its application limits are discussed.

Deep-Learning-Driven Full-Waveform Inversion for Ultrasound Breast Imaging.

Ultrasound breast imaging is a promising alternative to conventional mammography because it does not expose women to harmful ionising radiation and it can successfully image dense breast tissue. However, conventional ultrasound imaging only provides morphological information with limited diagnostic value. Ultrasound computed tomography (USCT) uses energy in both transmission and reflection when imaging the breast to provide more diagnostically relevant quantitative tissue properties, but it is often based on time-of-flight tomography or similar ray approximations of the wave equation, resulting in reconstructed images with low resolution. Full-waveform inversion (FWI) is based on a more accurate approximation of wave-propagation phenomena and can consequently produce very high resolution images using frequencies below 1 megahertz. These low frequencies, however, are not available in most USCT acquisition systems, as they use transducers with central frequencies well above those required in FWI. To circumvent this problem, we designed, trained, and implemented a two-dimensional convolutional neural network to artificially generate missing low frequencies in USCT data. Our results show that FWI reconstructions using experiment data after the application of the proposed method successfully converged, showing good agreement with X-ray CT and reflection ultrasound-tomography images.

Evaluation of a rapid antigen detection test (Panbio™ COVID-19 Ag Rapid Test Device) as a point-of-care diagnostic tool for COVID-19 in a pediatric emergency department.

We evaluated the Panbio™ COVID-19 Ag Rapid Test Device as a point-of-care diagnostic tool for COVID-19 in 357 patients at a pediatric emergency department. Thirty-four patients tested positive by reverse transcription polymerase chain reaction, of which 24 were positive by the antigen assay. The sensitivity and specificity of the assay were 70.5% and 100%, respectively.

Health Advertising during the Lockdown: A Comparative Analysis of Commercial TV in Spain.

During the lockdown declared in Spain to fight the spread of COVID-19 from 14 March to 3 May 2020, a context in which health information has gained relevance, the agenda-setting theory was used to study the proportion of health advertisements broadcasted during this period on Spanish television. Previous and posterior phases were compared, and the period was compared with the same period in 2019. A total of 191,738 advertisements were downloaded using the Instar Analytics application and analyzed using inferential statistics to observe the presence of health advertisements during the four study periods. It was observed that during the lockdown, there were more health advertisements than after, as well as during the same period in 2019, although health advertisements had the strongest presence during the pre-lockdown phase. The presence of most types of health advertisements also changed during the four phases of the study. We conclude that, although many differences can be explained by the time of the year-due to the presence of allergies or colds, for instance-the lockdown and the pandemic affected health advertising. However, the effects were mostly visible after the lockdown, when advertisers and broadcasters had had time to adapt to the unexpected circumstances.

Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population.

Neuromyelitis Optica (NMO) is an autoimmune disease with a higher prevalence in non-European populations. Because the Mexican population resulted from the admixture between mainly Native American and European populations, we used genome-wide microarray, HLA high-resolution typing and AQP4 gene sequencing data to analyze genetic ancestry and to seek genetic variants conferring NMO susceptibility in admixed Mexican patients. A total of 164 Mexican NMO patients and 1,208 controls were included. On average, NMO patients had a higher proportion of Native American ancestry than controls (68.1% vs 58.6%; p = 5 × 10-6). GWAS identified a HLA region associated with NMO, led by rs9272219 (OR = 2.48, P = 8 × 10-10). Class II HLA alleles HLA-DQB1*03:01, -DRB1*08:02, -DRB1*16:02, -DRB1*14:06 and -DQB1*04:02 showed the most significant associations with NMO risk. Local ancestry estimates suggest that all the NMO-associated alleles within the HLA region are of Native American origin. No novel or missense variants in the AQP4 gene were found in Mexican patients with NMO or multiple sclerosis. To our knowledge, this is the first study supporting the notion that Native American ancestry significantly contributes to NMO susceptibility in an admixed population, and is consistent with differences in NMO epidemiology in Mexico and Latin America.

Exposure to biomass smoke, cigarettes, and alcohol modifies the association between tumour necrosis factor (-308G/A, -238G/A) polymorphisms and tuberculosis in Mexican carriers.

INTRODUCTION: Exposure to biomass smoke, cigarettes, alcohol, and the impairment of immunoregulation are considered to be risk factors for tuberculosis. Tumour necrosis factor (TNF) -308G/A and -238G/A gene polymorphisms have been associated with tuberculosis. However, the results remain inconsistent. The aim of this study was to determine the association between TNF polymorphisms and tuberculosis in the presence of biomass smoke, cigarettes, and alcohol in a Mexican population. MATERIAL AND METHODS: TNF polymorphisms were determined in 118 tuberculosis patients and 223 controls. We performed a univariate, bivariate, stratified analysis. Odds ratios, confidence intervals, and p-values were calculated. RESULTS: Occupational biomass smoke exposure was associated with tuberculosis between the patients and controls (OR = 1.70, 95% CI: 1.08-2.70, p = 0.02). We also found an association of the -308A allele carriers between the patients and controls without exposure to occupational (p = 0.04, OR = 0.16, 95% CI: 0.01-0.92) and in-home (p = 0.02, OR = 0.14, 95% CI: 0.01-0.81) biomass smoke, as well as an association with alcohol (p = 0.01, OR = 0.24, 95% CI: 0.05-0.75). The haplotype analysis revealed an association of the -308A/-238G haplotype between patients and nonconsanguineous controls without exposure to occupational (p = 0.02, OR = 0.12, 95% CI: 0.01-0.99) and in-home (p = 0.01, OR = 0.1, 95% CI: 0.01-0.9) biomass smoke, cigarette use (p = 0.04, OR = 0.28, 95% CI: 0.08-0.98), and alcohol (p = 0.02, OR = 0.22, 95% CI: 0.05-0.88) intake. CONCLUSIONS: The TNF -308A allele and the -308A/-238G haplotype are associated with tuberculosis, as are exposure to biomass smoke, cigarettes, and alcohol. No association for the -238G/A polymorphism was found. Our results provide insight into a possible protective role of TNF polymorphisms in tuberculosis in our population.