Trace elements and lipidomic datasets of stranding samples in the blubber of Turpsios truncatus from the Yucatan coast: Association with biological features.

The Yucatan coastal zone is an area that contributes to many anthropogenic activities resulting in substantial contamination (metals, pesticides) in aquatic organisms. The dolphin is an excellent sentinel animal used in studying contamination in this area. Some substances found in dolphins have been identified as toxic causing alterations in the properties of membranes and produce lipid peroxidation especially heavy metals. The dataset presented here is associated with the research article paper entitled "Trace element and lipidomic analysis of bottlenose dolphin blubber from the Yucatan coast: Lipid composition relationships". In this article, we presented the trace element concentrations found in blubber and their comparison with other studies performed in mammal marine organisms. Lipidomic characterization of bottlenose dolphin blubber and their association with trace elements and the differences related to biological characteristics were presented. This data provides a correlation analysis between trace element concentrations, lipid species and body length and the lipid differences related to biological characteristics such as growth stage, stranding code, and the presence of stomach contents. We used Spearman correlation analysis to identify the association with body length, trace elements and lipids. Wilcoxon rank-sum test was used to determine differences in lipids related to stranding code (3: moderate decomposition, 4: advanced decomposition), growth stage (juveniles and adults) and whether they showed presence of stomach contents or not. The data indicates that Cr, Cd and Zn concentrations were higher compared to concentrations found in blubbler of T. truncatus from other studies (See Table 3). Cr, Co, As and Cd were found in higher concentration in larger organisms compared to smaller ones. The results of correlation between lipids and body length showed a decrease in some ceramides (CER, DCER, HCER), sterols (CE), glycerolipids (TAG, DAG) and phosphatidylethanolamines (LPE, PE) in larger dolphins (Table 4). Dolphins with advanced decomposition (code 4) showed lower concentrations of phosphatidylethanolamines (PE) compared with organisms with moderate decomposition (code 3). Organisms with empty stomachs showed higher concentrations of phosphoethanolamines suggesting a preferential metabolism of energy-rich lipids over structural lipids. The information in these datasets may contribute to understanding the potential associations of trace elements, lipids and their associations with biological characteristics.

Trace element and lipidomic analysis of bottlenose dolphin blubber from the Yucatan coast: Lipid composition relationships.

Bottlenose dolphins (Tursiops truncatus) are found in coastal and estuarine ecosystems where they are in continuous contact with multiple abiotic and biotic stressors in the environment. Due to their role as predators, they can bioaccumulate contaminants and are considered sentinel organisms for monitoring the health of coastal marine ecosystems. The northern zonal coast of the Yucatan peninsula of Mexico has a high incidence of anthropogenic activities. The principal objectives of this study were two-fold: 1) to determine the presence of trace metals and their correlation with lipids in bottlenose dolphin blubber, and 2) to use a lipidomics approach to characterize their biological responses. Levels of trace elements (Al, Cr, Mn, Fe, Co, Ni, Cu, Zn, As, Se, Cd, Pb) were analyzed using ICP-MS and lipids were measured using a targeted lipidomics approach with LC-MS/MS. Spearman correlation analysis was used to identify associations between lipids and trace elements. The influences of gender, stranding codes, presence of stomach content, growth stages and body length were also analyzed. Blubber lipid composition was dominated by triacylglycerols (TAG). Our results demonstrated the presence of heavy-metal elements such as Cd and As, which were correlated with different lipid species, mainly the ceramides and glycerophospholipids, respectively. Organisms with Cd showed lower concentrations of ceramides (CER, HCER and DCER), TAG and cholesteryl esters (CE). Trace elements Cr, Co, As and Cd increased proportionately with body length. This study provides a novel insight of lipidomic characterization and correlations with trace elements in the bottlenose dolphin which might contribute to having a better understanding of the physiological functions and the risks that anthropogenic activities can bring to sentinel organisms from coastal regions.

Difference of MreBCD Complex Interactome in Salmonella Typhimurium ST19 and ST213 Genotypes on Pathogenesis and Stress Response Pathways.

BACKGROUND: Salmonella enterica is the etiological agent of salmonellosis, with a high infection rate worldwide in Mexico, ST213 genotype of S. enterica ser. Typhimurium is displacing the ancestral ST19 genotype. Bacterial cytoskeleton protein complex MreBCD plays an important role in S. enterica pathogenesis, but underlying mechanisms are unknown. RESULTS: In this study, 106 interactions among MreBCD and 15 proteins from S. Typhimurium Pathogenicity Islands 1 (SP-I) and 2 (SP-2) involved in both bacterial virulence and stress response were predicted in ST213 and ST19 genotypes, of which 12 interactions were confirmed in vitro. In addition, gene cluster analysis in 100 S. Typhimurium genomes was performed for these genes. RESULTS AND CONCLUSION: The in silico and in vitro results showed a novel MreBCD interactome involved in regulating pathogenesis and stress response through interactions with virulence factors located at SPI-1 and SPI-2. Furthermore, both pseudogene presence and sequence variations in four tested proteins between genotypes resulted in differential interaction patterns involved in Salmonella motility and survival in eukaryotic cells, which could explain the replacement of ST19 by ST213 in Mexico.

Comparison of the Effects of Endotracheal Intubation of Wistar Rats Using the Conventional Technique vs. a New Modified Technique Using a 3D Mouth-Piece.

AIMS: Endotracheal intubation in rats is challenging due to the difficult anatomical characteristics of the airway. The success rate at first attempt is low and airway damage is a common complication. We aimed to compare and evaluate the conventional intubation method with a modified procedure using an inclined plate, headlamp (700-Lumen), and 3D mouth-piece designed with a 20° curvature. Both techniques were conducted by laboratory personnel with and without previous experience in airway management of laboratory rats. MATERIAL AND METHODS: In this study, we used 36 Wistar rats of both genders. Three groups of laboratory personnel (anesthesiologists, medical students, and laboratory technicians) performed both endotracheal intubation techniques, i.e., blind intubation at supine position and endotracheal intubation at 70° supine position with a 3D mouth-piece and direct illumination of the glottis. RESULTS: The modified technique had a significantly higher success rate and shorter procedure duration. Moreover, there was no significant difference in the procedure duration between personnel with and without previous training in airway management. CONCLUSION: Previous knowledge and experience in airway management are required when performing conventional endotracheal intubation; moreover, its success rate is low. Contrastingly, using proper instruments and the 3D mouth-piece facilitated easier and quicker airway management regardless of previous experience.

Incidencia de errores innatos del metabolismo y otros trastornos detectados en un programa de cribado metabólico neonatal ampliado de un grupo mexicano de hospitales / Incidence of inborn errors of metabolism and other diseases detected in a newborn screening program within a group of Mexican private hospitals

INTRODUCCIÓN: La detección de errores innatos del metabolismo (EIM), endocrinopatías, hemoglobinopatías y otros trastornos por medio del cribado metabólico neonatal es una iniciativa de salud mundial que comenzó hasta el año 1973 en México. La incidencia nacional de este grupo de enfermedades es incierta debido a la falta de programas de cribado metabólico neonatal ampliado (CMNA), aunada a la carencia de publicaciones relacionadas. Para el presente manuscrito, la incidencia de EIM en el noreste de México se estima a partir de un programa de CMNA en hospitales privados del Grupo Christus Muguerza. MATERIAL Y MÉTODOS: El estudio fue retrospectivo e incluyó la revisión de resultados de 19.768 recién nacidos (RN), obtenidos de marzo de 2006 a febrero de 2017. RESULTADOS: El programa de CMNA detectó a 60 RN con algún EIM u otro trastorno y 104 fueron identificados como heterocigotos, presentando una incidencia de 30,4 y 52,7 por cada 10.000 RN, respectivamente. El diagnóstico más frecuente fue la deficiencia de glucosa-6-fosfato deshidrogenasa (G6PD); y en el caso de los heterocigotos, las hemoglobinopatías. La combinación de tecnologías en el cribado resultó en una especificidad del 99,95%, una sensibilidad cercana al 100% y un valor predictivo positivo del 86,96%. CONCLUSIONES: Los programas de CMNA ofrecen la posibilidad de detectar y confirmar un diagnóstico temprano para ofrecer un tratamiento específico, en combinación con un asesoramiento genético. Por otro lado, estos resultados proporcionan una estimación de la incidencia de los EIM, endocrinopatías, hemoglobinopatías y otros trastornos en un grupo de hospitales privados en México

INTRODUCTION: The detection of inborn errors of metabolism (IEM), endocrinopathies, hemoglobinopathies, and other disorders through newborn screening (NBS) is a global health initiative that began until 1973 in Mexico. The national incidence of this group of diseases is uncertain due to the lack of NBS programs and related publications. For the present manuscript, the incidence of a specific group of IEM, endocrinopathies, hemoglobinopathies, and other disorders in newborns was estimated from an NBS program implemented in a private group of hospitals part of Grupo Christus Muguerza located northeast of Mexico. MATERIAL AND METHODS: This retrospective study included the examination of 19,768 newborns' results obtained from the NBS program from March 2006 to February 2017. RESULTS: The NBS program found 60 newborns with an IEM or other disorder and 104 were identified as carriers, with an incidence of 30.4 and 52.7 per 10,000 newborns, respectively. The most frequent diagnosis was glucose-6-phosphate dehydrogenase deficiency (G6PD); and in the case of carriers, were hemoglobinopathies. The combination of screening technologies showed a specificity of 99.95%, a sensitivity close to 100%, and a positive predictive value of 86.96%. CONCLUSIONS: The benefit of an NBS program is to stablish an early diagnosis to offer prompt treatment and proper genetic counseling. Furthermore, these results provide an estimation of IEM, endocrinopathies, hemoglobinopathies, and other disorders incidence in a group of private hospitals in Mexico

Effect of pterois volitans (lionfish) venom on cholinergic and dopaminergic systems.

Pterois volitans venom induces muscular fibrillation, which results from nerve transmission caused by the presence of acetylcholine (ACh). It also has cardiovascular effects that are due to its actions on muscarinic and nicotinic cholinergic receptors. In this study, we characterized the effects of P. volitans venom on nicotinic acetylcholine receptors (nAChRs) and dopaminergic neurons. After exposure to P. volitans venom, acetylcholinesterase (AChE) mRNA levels and the expression of the α2 subunit of nAChR increased in zebrafish embryos (15-20 somites). In addition, the lionfish venom blocked zebrafish α2 nAChR subunit functional expression and the ACh-induced response of human neuronal α3ß2 receptors. The latter receptor was blocked by a protein fraction named F2, which was isolated from P. volitans venom using reversed phase high performance liquid chromatography (RP-HPLC). This venom causes death in dopaminergic neurons, and affects the cholinergic system. The effect of these two systems may result in retarded embryonic development of zebrafish, since the two systems function in a related manner to control growth hormone secretion.

[Guidelines for restarting elective orthopaedic surgery post Covid-19 in Mexico]. / Recomendaciones para el reinicio de cirugía ortopédica electiva post-COVID-19 en México.

BACKGROUND: Elaborate an updated guideline of recommendations for the safe return to elective orthopedic surgery post COVID-19 pandemic. METHODS: Bibliographic review of relevant global literature. RESULTS: Recommendation guidelines with appropriate definitions of orthopedic elective surgery, correct contagion risk stratification for COVID-19, considerations for specific risk groups, hospital adaptations and anesthetic, intraoperative and postoperative special care for a safe restart of orthopedic elective surgery post COVID-19 pandemic. CONCLUSIONS: The safe restart of orthopedic elective surgery is possible as long as we take into consideration the appropriate recommendations, which we have summarized in this review.

JUSTIFICACIÓN: Proporcionar recomendaciones actuales que nos permitan retomar la cirugía ortopédica electiva posterior a la pandemia COVID-19 en condiciones adecuadas de seguridad para el personal de salud, pacientes y familiares para el tratamiento perioperatorio de acuerdo a la situación en nuestro país. MÉTODOS: Revisión bibliográfica de literatura actual mundial relevante. RESULTADOS: Una guía de recomendaciones con la adecuada definición de procedimientos ortopédicos electivos, la correcta estratificación de riesgo de contagio por COVID-19, las consideraciones especiales en selección de pacientes según su grupo de riesgo, las adecuaciones hospitalarias a implementar y los cuidados anestésicos, intraoperatorios y postoperatorios especiales ante el reinicio de cirugía electiva posterior a la pandemia COVID-19. CONCLUSIONES: El reinicio seguro de cirugía ortopédica electiva posterior a la pandemia COVID-19 en México es posible tomando en cuenta las recomendaciones especiales preoperatorias, intraoperatorias y postoperatorias.

Comparative Study of Capillary Filtration Coefficient (Kfc) Determination by a Manual and Automatic Perfusion System. Step by Step Technique Review.

The purpose of calculating the capillary filtration coefficient is to experimentally evaluate edema formation in models of pulmonary ischemia-reperfusion injury. For many years, the obtaining of this coefficient implies a series of manual maneuvers during ex-vivo reperfusion of pulmonary arterial pressure, venous pressure and weight, as well as the calculation of the Kfc formula. Through automation, the calculation of capillary filtration coefficient could be easier and more efficient. To describe an automatic method designed in our laboratory to calculating the capillary filtration coefficient and compare with traditional determination of capillary filtration coefficient as gold standard method. An automatic three valve perfusion system was constructed, commanded by a mastery module connected to a graphical user interface. To test its accuracy, cardiopulmonary blocks of Wistar rats were harvested and distributed in manual (n=8) and automated (n=8) capillary filtration coefficient determination groups. Physiological parameters as pulmonary arterial pressure, pulmonary venous pressure, weight and capillary filtration coefficient were obtained. Results: Capillary filtration coefficient, pulmonary arterial pressure, venous arterial pressure shown no statistical significance difference between the groups. The automated perfusion system for obtaining Kfc was standardized and validated, giving reliable results without biases and making the process more efficient in terms of time and personal staff.

Glucose-6-Phosphate dehydrogenase deficiency incidence in a Hispanic population.

Glucose-6-phosphate dehydrogenase deficiency (D-G6PD) is a common erythroenzymopathy that needs to be addressed as an important public health issue. Proper population monitoring is needed to anticipate clinical complications. A joint venture between Genomi-k (a Mexican company focused on newborn screening) and several university researchers conducted a retrospetive study for D-G6PD based on 156,152 newborn screening reports belonging to the Mexican population comprising a period of 10 years. We identified 540 male newborns affected with this deficiency, representing an incidence of 6.78 cases per 1,000 newborn males. A single double mutation of G202A:A376G was detected in 97.22% of cases. In regions where there is an absence of a national centralized health data for D-G6PD, information from a non-probabilistic large population sample can be used as a national incidence subrogate.

Clinical and cytogenetic characterization of a patient with tetrasomy 18p / Caracterización clínica y citogenética de un paciente con tetrasomía 18p

The 18p tetrasomy is a structural chromosomal abnormality with the presence of an extra isochromosome 18p, caused by a nondisjunction failure during maternal meiosis II. This additional i(18p) occurs in 1 of 180,000 live-born children worldwide, affecting males and females equally. It is characterized by craniofacial dysmorphisms; ears, nose and throat (ENT) abnormalities; musculoskeletal alterations; and global development delay. We aim to present the clinical and cytogenetic findings of a 3-year-10-month-old Latin American male with i(18p), to support the gene dosage effects, comparing his features with the ones reported in literature. This patient was product of the second pregnancy of a 39-year-old woman and the first son of a 49-year-old man. His main clinical features were microcephaly, facial dysmorphism, generalized hypotonia, and developmental delay. A blood sample of the patient was required to perform a GTG-banded karyotype and a fluorescence in situ hybridization (FISH) for chromosome 18 short arm. In addition, an SNP microarray analysis was carried out to detect genomic imbalances. Cytogenetic analysis revealed the presence of a metacentric supernumerary marker chromosome. The FISH study confirmed the origin of the marker chromosome by showing two signals for the 18p subtelomere and an intermediate signal for the 18 centromere. The microarray analysis showed a copy number gain of 18,385 Mb within the 18p.Tetrasomy tends to be a result of de novo events. The presence of the patient's isochromosome could be explained by advanced maternal age as it is known that this factor has high influence in isochromosome formation. Despite that there were no genes associated with the i(18p)'s clinical manifestations, these features are negatively correlated with dosage effects of the entire short arm. Physical and language therapy was recommended to the patient; the family received medical orientation, and awareness in family planning was raised.

La tetrasomía 18p es una anormalidad cromosómica estructural con la presencia de un isocromosoma extra 18p, causado por una no disyunción durante la meiosis materna II. Este adicional i(18p) ocurre en 1 de 180.000 niños nacidos vivos en todo el mundo, y afecta a hombres y mujeres por igual. Se caracteriza por dismorfias craneofaciales; anomalías en oídos, nariz y garganta (ENT); alteraciones musculoesqueléticas y del desarrollo global. Nuestro objetivo es presentar los hallazgos clínicos y citogenéticos de un varón latinoamericano de 3 años y 10 meses de edad con i(18p), para explicar los efectos de dosificación génica, comparando sus características con las reportadas en la literatura. Este paciente es producto del segundo embarazo de una mujer de 39 años y el primer hijo de un hombre de 49 años. Sus principales características clínicas fueron microcefalia, dismorfia facial, hipotonía generalizada y retraso global en el desarrollo. Se requirió una muestra de sangre del paciente para realizar un cariotipo con bandas GTG y una hibridación fluorescente in situ (FISH) para el análisis del brazo corto del cromosoma 18. Además, se llevó a cabo un análisis de microarreglos para detectar desequilibrios genómicos. El análisis citogenético reveló la presencia de un cromosoma supernumerario metacéntrico. Mientras que el estudio FISH confirma el origen del cromosoma marcador al mostrar dos señales para subtelómeros 18p y una señal intermedia para el centrómero 18. El análisis de microarreglos mostró una ganancia en el número de copias de 18,385 Mb dentro de la región 18p.La tetrasomía tiende a ser el resultado de eventos de novo. El isocromosoma del paciente podría explicarse por la edad materna avanzada, ya que se sabe que tiene una gran influencia en su formación. A pesar de que no hay genes asociados con las manifestaciones clínicas de i(18p), estas características están negativamente correlacionadas con los efectos de dosificación de todo el brazo corto. Se le recomendó terapia física y de lenguaje al paciente, la familia recibió orientación médica y se concientiza sobre la planificación familiar.

Effects of Sildenafil and Tadalafil on Edema and Reactive Oxygen Species Production in an Experimental Model of Lung Ischemia-Reperfusion Injury.

BACKGROUND: Lung ischemia-reperfusion injury is characterized by formation of reactive oxygen species and cellular swelling leading to pulmonary edema and primary graft dysfunction. Phosphodiesterase 5 inhibitors could ameliorate lung ischemia-reperfusion injury by interfering in many molecular pathways. The aim of this work was to evaluate and compare the effects of sildenafil and tadalafil on edema and reactive oxygen species formation in an ex vivo nonhuman animal model of lung ischemia-reperfusion injury. METHODS: Thirty-two Wistar rats were distributed, treated, perfused and the cardiopulmonary blocks were managed as follows: control group: immediate excision and reperfusion without pretreatment; ischemia reperfusion group: treatment with dimethylsulfoxide 0.9% and excision 1 hour later; sildenafil group: treatment with sildenafil (0.7 mg/kg) and excision 1 hour later; and tadalafil group: treatment with tadalafil (0.15 mg/kg) and excision 2 hours later. All cardiopulmonary blocks except control group were preserved for 8 hours and then reperfused. Pulmonary arterial pressure, pulmonary venous pressure, and capillary filtration coefficient were measured. Reactive oxygen species were measured. RESULTS: Edema was similar between control and sildenafil groups, but significantly greater in the ischemia-reperfusion (P ≤ .04) and tadalafil (P ≤ .003) groups compared with the sildenafil group. The malondialdehyde levels were significantly lower in the sildenafil (P ≤ .001) and tadalafil (P ≤ .001) groups than the ischemia-reperfusion group. CONCLUSIONS: Administration of sildenafil, but not tadalafil, decreased edema in lung ischemia-reperfusion injury. Both drugs decreased reactive oxygen species formation in a lung ischemia-reperfusion injury model.

Fractura lumbar como presentación de un linfoma linfoblástico de células B / Lumbar fracture as presentation of B-cell lymphoblastic lymphoma

Introducción: El linfoma linfoblástico de precursores de células B (LLB) es responsable del 2% de los casos de los linfomas diagnosticados en la edad pediátrica. El retraso en su diagnóstico es habitual, debido a la poca especificidad de los síntomas asociados. Exponemos un caso clínico con una presentación clínica muy poco común. Caso clínico: Paciente de 14 años de edad que acudió a nuestra consulta por un dolor en la rodilla, la cadera y el muslo izquierdo de 40 días de evolución, que le provocó incapacidad para deambular 1 semana antes de su ingreso. En su abordaje inicial se indicó tratamiento con ketorolaco y piroxicam, lo que propició una mejoría transitoria del dolor. Se realizaron radiografías de la columna lumbar, la cadera y la extremidad inferior, una tomografía computarizada (TC) y una resonancia magnética (RM). Las radiografías detectaron lesiones líticas, que posteriormente fueron documentadas en la TC, en el trocánter y la cabeza del fémur izquierdo y en la primera vértebra lumbar. La RM demostró, además, la presencia de adenomegalias supraclaviculares y una masa paravertebral en la octava vértebra torácica. El aspirado de médula ósea fue negativo para la infiltración, y la biopsia de una de las adenomegalias supraclaviculares reveló un linfoma tipo B. Conclusión: El LLB es una variedad de linfoma unicelular poco común en pediatría, que generalmente se diagnostica en estadios avanzados por su rápido crecimiento (AU)

Introduction: B-cell lymphoblastic lymphoma contributes 2% of the diagnosed lymphomas in the pediatric age. The diagnosis is often delayed by the low specificity of presenting symptoms. We illustrate an uncommon B-cell lymphoblastic lymphoma presentation. Case report: A 14-year old female presented with a 40-day history of left knee, hip and thigh pain that produced intermittent limping, associated with one week history of limping. During her initial medical assistance ketorolac and piroxicam were prescribed, partially decreasing pain. She evolved walking disability, leading her to hospitalization were X-rays, CT scan and MRI were ordered. Osteolithic lesions were found and confirmed by CT scan in 1st lumbar vertebra and left femur head and trochanter. MRI found bilateral supraclavicular lymphadenopathies along a paravertebral tumor at T8 level. Marrow aspiration was negative and biopsy of the supraclavicular masses revealed a B-cell lymphoma, which was further characterized by immunohistochemistry in B-cell lymphoblastic lymphoma. Conclusion: B-cell lymphoblastic lymphoma is a rare tumor in children and is usually diagnosed in advanced stages due to their rapid growth and delay in the diagnosis. The most important diagnostic tool for the general pediatrician is to maintain clinical suspicion due to the low specificity of the clinical symptoms (AU)

Mutación en el gen supresor tumoral PTCH1 en el síndrome de Gorlin. Presentación de un caso / Mutation in the PTCH1 tumor suppressor gene in Gorlin Syndrome. A case report

El síndrome de Gorlin, también conocido como síndrome del carcinoma basocelular nevoide (SCBN), es una enfermedad hereditaria, autosómica dominante, con penetrancia alta y expresividad clínica variable. El SCBN se caracteriza por la presencia de múltiples carcinomas basocelulares, fibromas de ovario y una variedad de características clínicas, clasificadas según criterios mayores y menores que permiten orientar el diagnóstico. El SCBN corresponde a una enfermedad genética con baja incidencia y poca prevalencia en México. Está asociado a mutaciones en el gen supresor de tumores PTCH1. Presentamos el caso de una niña de 13 años, producto del primer embarazo de padres sanos y sin antecedentes heredofamiliares de importancia. Los signos clínicos en esta paciente incluían los siguientes: macrocefalia, frontal amplio, puente nasal ancho, telecanto y paladar alto y ojival. En la piel se observaron 8 nevos y hoyuelos palmares o plantares. Mediante un estudio radiológico se observó la presencia de quistes odontogénicos, que eran recurrentes. El estudio molecular demostró una mutación heterocigota en el gen supresor de tumores PTCH1. Los hallazgos mostraron una mutación novel, no descrita en la bibliografía o en bases de datos públicas; sin embargo, la mutación expresa las manifestaciones fenotípicas características del SCBN. Actualmente, no existe un tratamiento definitivo para esta afección, por lo que es necesario un abordaje preventivo multidisciplinario y el asesoramiento genético (AU)

Gorlin syndrome is a hereditary disease, and it is also known as nevoid basal cell carcinoma (NBCC). NBCC follows an autosomal dominant inheritance pattern, with high penetrance and variable clinical expression. NBCC is characterized by multiple basal cell carcinomas, ovarian fibroma and a variety of clinical manifestation known as minor or mayor criteria. NBCC is a genetic disease with low incidence in México and it is associated with mutated PTCH1 suppressor gen. We present the case of a 13 years old feminine patient was a healthy product of the first gestation of parents with no history of disease. Her clinical characteristics include macrocephaly, broad forehead, broad nasal bridge, telecanthus, high-arched palate, with 8 palmar and plantar pits. The radiology dental studies showed chists odontogenic with a recurrent pattern. Molecular studies showed a heterocigotic mutation in the suppressor gene PTCH1. Molecular analysis showed a novel mutation and clinical manifestation of the NBCC, not described before. For the NBCC there is no definitive treatment, and a multidisciplinary medical team is necessary for prevention and genetic counseling (AU)

Gene networks and toxicity pathways induced by acute cadmium exposure in adult largemouth bass (Micropterus salmoides).

Cadmium is a heavy metal that can accumulate to toxic levels in the environment leading to detrimental effects in animals and humans including kidney, liver and lung injuries. Using a transcriptomics approach, genes and cellular pathways affected by a low dose of cadmium were investigated. Adult largemouth bass were intraperitoneally injected with 20µg/kg of cadmium chloride (mean exposure level - 2.6µg of cadmium per fish) and microarray analyses were conducted in the liver and testis 48h after injection. Transcriptomic profiles identified in response to cadmium exposure were tissue-specific with the most differential expression changes found in the liver tissues, which also contained much higher levels of cadmium than the testis. Acute exposure to a low dose of cadmium induced oxidative stress response and oxidative damage pathways in the liver. The mRNA levels of antioxidants such as catalase increased and numerous transcripts related to DNA damage and DNA repair were significantly altered. Hepatic mRNA levels of metallothionein, a molecular marker of metal exposure, did not increase significantly after 48h exposure. Carbohydrate metabolic pathways were also disrupted with hepatic transcripts such as UDP-glucose, pyrophosphorylase 2, and sorbitol dehydrogenase highly induced. Both tissues exhibited a disruption of steroid signaling pathways. In the testis, estrogen receptor beta and transcripts linked to cholesterol metabolism were suppressed. On the contrary, genes involved in cholesterol metabolism were highly increased in the liver including genes encoding for the rate limiting steroidogenic acute regulatory protein and the catalytic enzyme 7-dehydrocholesterol reductase. Integration of the transcriptomic data using functional enrichment analyses revealed a number of enriched gene networks associated with previously reported adverse outcomes of cadmium exposure such as liver toxicity and impaired reproduction.

Revisión de los fundamentos del análisis de clases latentes y ejemplo de aplicación en el área de las adicciones / Review of fundamentals of latent class analysis and application example in area of addictions

Aims. Latent class analysis (LCA) is a technique especially relevant in the drug field, where much of the variables are categorical. The methodology on which the LCA is based allows identifying typologies of use of substances instead of to focus of exclusive way in pathological patterns, so it can detect other consumer problems. The objectives of this study are to review the basics of LCA and to provide an application example in area of addictions. Method. Data of a study conducted by the Center of Sociological Research on consumer habits associated to tobacco in adults over 18 years old from Spain (N = 2002) were used for the exemplification of LCA. Of 513 people who reported being smokers, 498 completed sufficient data to be included in the LCA, 55.2 % men and 44.8 % women (M = 41.71 years old, SD = 13.75). The analysis was based on the following variables: number of cigarettes smoked per day, intention to quit, self-perception of smoking and smoking frequency of parents as a child. Results. In order to evaluate the fit of the model estimated by LCA were considered mainly the information criteria (BIC, AIC and AIC3). Preliminary results showed the models 2 and 4 classes as the most plausible. After bootstrapping conditional the model of 4 latent classes was chosen. The classes recognized were: "smoking remarkable" = 27.91 % of the sample, "light smokers" = 26.21 %, "moderate smokers" = 23.75 %, and "serious smokers" = 22.13 %. Conclusions. The results and usefulness of LCA to detect patterns of substance use are discussed(AU)

Objetivos. El análisis de clases latentes (LCA) es una técnica de especial relevancia en el campo del consumo de drogas, donde gran parte de las variables son categóricas. La metodología en la que se basa el LCA permite identificar tipologías de uso de sustancias en lugar de focalizar de manera exclusiva en patrones patológicos, por lo que se pueden detectar otros problemas de consumo. Este estudio se propone revisar los fundamentos del LCA y ofrecer un ejemplo de aplicación en el campo de las adicciones. Método. Para la ejemplificación del LCA se recurrió a datos de un estudio sobre hábitos de consumo relacionados con el tabaco en mayores de 18 años de España (N = 2.002) realizado por el Centro de Investigaciones Sociológicas. De 513 personas que informaron ser fumadoras, 498 completaron datos suficientes para ser incluidas en el LCA, 55,2 % varones y 44,8 % mujeres (M = 41,71 años; DT = 13,75). El análisis se basó en las siguientes variables: cantidad de cigarrillos fumados por día, intención de dejar de fumar, auto-percepción como fumador y frecuencia de fumar de los padres cuando era niño. Resultados. Para evaluar el ajuste del modelo estimado por LCA se recurrió primordialmente a los criterios de información (BIC, AIC y AIC3). Resultados preliminares mostraron a los modelos de 2 y 4 clases como los más verosímiles. Tras un bootstrapping condicional se eligió el modelo de 4 clases latentes. Las clases reconocidas fueron: "fumadores notables" = compuesta por el 27,91 % de la muestra, "fumadores leves" = 26,21 %, "fumadores moderados" = 23,75 %, y "fumadores graves" = 22,13 %. Conclusiones. Se discuten los resultados y la utilidad del LCA para detectar patrones de consumo de sustancias(AU)

The prevalence, correlates and impact of dementia in Cuba. A 10/66 group population-based survey.

BACKGROUND: We aimed to estimate the prevalence, correlates and impact of dementia in Havana and Matanzas, Cuba. METHODS: A 1-phase catchment area survey of all over 65-year-old residents of 7 catchment areas in Havana and 1 in Matanzas was conducted. Dementia diagnosis was established according to DSM-IV and our own, pre-validated 10/66 criteria. The impact of dementia was assessed through associations with needs for care, cutting back on work to care and caregiver psychological morbidity. RESULTS: We interviewed 2,944 older people, a response proportion of 96.4%. The prevalence of DSM-IV dementia was 6.4% and that of 10/66 dementia 10.8%. Both dementia outcomes were associated with older age, less education, a family history of dementia, shorter leg length and smaller skull circumference. Dementia, rather than physical health problems or depression, was the main contributor to needs for care (population-attributable prevalence fraction = 64.6%) and caregiver cutting back on work (population-attributable prevalence fraction = 57.3%). CONCLUSION: The prevalence of dementia in Cuba is similar to Europe. Among health conditions, dementia is the major contributor to dependency and caregiver economic and psychological strain. More attention needs to be given to it and other chronic diseases associated more with disability than premature mortality.

[Hormonal therapy in breast cancer]. / Tratamiento hormonal del cáncer de mama.

Hormonal therapy has been the first systemic treatment against breast cancer. Up to now Tamoxifen and ovarian supression/ablation were the best optionts we had to treat early breast cancer as advancer disease. The advent of aromatase inhibitors, new SERMS and antistrogen Fulvestrant have supoused a great advance in the treatment of this disease and at the same time have complicated the election of the optimal drug for each patient. This article tries to review the aviable treatment options insiting on its indications.

The Prevalence, Correlates and Impact of Dementia in Cuba

We aimed to estimate the prevalence, correlates and impact of dementia in Havana and Matanzas, Cuba. Methods: A 1-phase catchment area survey of all over 65-year-old residents of 7 catchment areas in Havana and 1 in Matanzas was conducted. Dementia diagnosis was established according to DSM-IV and our own, pre-validated10/66 criteria. The impact of dementia was assessed through associations with needs for care, cutting back on work to care and caregiver psychological morbidity...(AU)