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.

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.

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.

Fulcro cardíaco de Trainini en el corazón fetal / Trainini cardiac fulcrum in the fetal heart

RESUMEN Demostrar mediante la disección de piezas anatómicas y de imágenes ultrasonográficas prenatales del corazón fetal la presencia del fulcro cardíaco como estructura de fijación que sirve de soporte a la banda miocárdica helicoidal. Se disecaron 6 corazones de fetos entre las 20 y 24 semanas de edad gestacional productos de abortos espontáneos, logrando encontrar el fulcro cardíaco en la proximidad de la aorta y conexiones con fibras miocárdicas. En 50 embarazos simples con fetos entre las 18 y 37 semanas de gestación, mediante ultrasonografía cardíaca fetal se obtuvieron las modalidades 2D, Doppler, color y tridimensión, STIC, HD Flow y speckle tracking, imágenes, medidas del fulcro y su cinética. Con la estrategia descrita se identificó y demostró la presencia del fulcro cardíaco o palanca miocárdica, estableciendo sus características anatómicas, conexiones con fibras miocárdicas del asa cardíaca y la biometría según la edad gestacional. Se formula una hipótesis sobre la biomecánica o cinética del fulcro durante el ciclo cardíaco. Para que el corazón cumpla su función de bomba aspirante e impelente debe poseer un punto de apoyo, una palanca o fulcro, que constituye una especie de unidad músculo-tendinosa. Dicha palanca presenta desplazamientos mixtos durante la torsión y detorsión del miocardio. Sus diámetros aumentan progresivamente a medida que avanza la gestación.

ABSTRACT To demonstrate by dissection of anatomical specimens and prenatal ultrasonographic images of the fetal heart the presence of the cardiac fulcrum as a fixation structure supporting the helical myocardial band. Six hearts of fetuses between 20-24 weeks of gestational age resulting from spontaneous abortions were dissected, finding the cardiac fulcrum in the proximity of the aorta and connections with myocardial fibers. In 50 singleton pregnancies with fetuses between 18-37 weeks of gestation, fetal cardiac ultrasonography was used to obtain 2D, Doppler, color and three-dimensional modalities, STIC, HD Flow and speckle tracking, images, fulcrum measurements and its kinetics. With the described strategy, the presence of the cardiac fulcrum or myocardial lever was identified and demonstrated, establishing its anatomical characteristics, connections with myocardial fibers of the cardiac loop and the biometry according to gestational age. A hypothesis on the biomechanics or kinetics of the fulcrum during the cardiac cycle is formulated. In order for the heart to fulfill its function as an aspirating and impelling pump, it must have a support point, a lever or fulcrum, which constitutes a sort of muscle-tendon unit. This lever presents mixed displacements during myocardial torsion and detorsion. Its diameters increase progressively as gestation advances.

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.

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.

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.

Prescripción racional de antibióticos: una conducta urgente / Rational prescription of antibiotics: an urgent conduct

Resumen: Los antibióticos han revolucionado la forma de ver y practicar la medicina. Gracias a su existencia millones de vidas se han salvado a lo largo de la historia. Sin embargo, en el siglo XXI surge un tema que es de vital importancia atender: la resistencia antimicrobiana. La resistencia antimicrobiana amenaza el futuro de lo que alguna vez fue cura de muchas enfermedades mortales y representa un reto actual para todo el profesional de la salud. La resistencia antimicrobiana no es un tema que haya surgido recientemente, pero la cantidad de resistencia a organismos, las ubicaciones geográficas afectadas por la resistencia a los medicamentos y la amplitud de la resistencia en organismos individuales están aumentando de forma acelerada. Existen más de 15 clases de antibióticos cuyos mecanismos de acción están implicados en funciones fisiológicas o metabólicas esenciales del microorganismo. De los anteriores, ninguno ha escapado de algún mecanismo de resistencia.

Abstract: Antibiotic therapy has been a revolutionary way of seeing and practicing medicine. Regarding to its existence, millions of lives have been saved throughout history. Nevertheless, nowadays a vital topic is emerging: antibiotic resistance. Antibiotic resistance threatens the future of what once was the cure for a lot of many deadly diseases and now represents a challenge for all healthcare professionals. Antibiotic resistance is not a new concept, but the amount of resistant bacteria to certain antibiotics, geographical changes and locations affected with antibiotic resistance and broad-spectrum resistance is currently quickly increasing. There are more than fifteen antibiotic families whose mechanisms of action are involved in basic physiological and metabolic features of different bacteria. Of none of the latter has escaped any antibiotic.

Efecto en el control glucémico y modificación del tratamiento en pacientes sometidos a cirugía bariátrica / Effect on glycemic control and modification of treatment in patients submitted to bariatric surgery

Resumen: La obesidad es el factor de riesgo ambiental más importante de diabetes mellitus tipo 2 y puede encontrarse hasta en 90% de los pacientes. La cirugía bariátrica, también conocida como cirugía metabólica, es cada vez más reconocida como una de las intervenciones más eficaces contra la obesidad y comorbilidades, ayudando a los pacientes a lograr la pérdida de peso sostenible y a mejorar su salud en general. Este artículo revisa los diferentes tipos de cirugía bariátrica, así como su efecto en el control glucémico y en la remisión de la diabetes mellitus 2.

Abstract: Obesity is the most important environmental risk factor of diabetes mellitus type 2 and may be found in 90% of patients. Bariatric surgery, also known as metabolic surgery, is each more recognized as one of the most efficient interventions against obesity and comorbidities, helping patients to reach the sustainable weight loss and to improve their general health. This article reviews the different types of bariatric surgery, as well as its impact on glycemic control and on the remission of diabetes mellitus type 2.

Importancia de la educación y comunicación para la prevención y manejo integral de la otitis media / Importance of education and communication for prevention and integrated management of otitis media

Resumen La otitis media aguda (OMA) desde una perspectiva de salud pública genera implicaciones sociales y económicas a pesar de ser una de las causas prevenibles de discapacidad auditiva a nivel mundial. Afecta a la población en general y se presenta en un alto porcentaje en la primera infancia. Se destaca la importancia de la educación y comunicación en la promoción de la salud y la prevención de la OMA por parte de los profesionales encargados de dicho proceso desde la Atención Primaria en Salud (APS), quienes debe orientar su actuar para implementar estrategias y metodologías guiadas al aprendizaje de la comunidad sobre hábitos saludables y sobre la modificación de actitudes que vayan en contravía de este propósito. De manera adicional, se requiere una mejor comprensión de las conductas que desencadenan una entidad como la OMA en los familiares y personas cercanas a quien la padece para lograr adherencias a las pautas terapéuticas recomendadas por parte de los cuidadores primarios, basados en una mejor comprensión de la entidad. Se concluye que mediante la comunicación efectiva y la educación pertinente, se puede generar un impacto en la disminución de morbimortalidad por OMA en la comunidad.

Abstract Acute otitis media (AOM), from a public health perspective, causes social and economic implications despite the fact that it can be a preventable cause of hearing impairment, affecting the population worldwide, particularly the early childhood age group. This article highlights the importance of education and communication in health promotion and prevention of AOM by primary health care professionals, in order to achieve successful strategies and guided methodologies that lead to community-based behavioral change. Further emphasis is given to the importance of understanding family-based behaviors triggered by an entity like AOM, as critical factors in their adherence to therapeutic recommendations and to the prevention of predisposing factors. Effective communication and relevant education can make a significant impact in reducing morbidity and mortality by AOM in the community.

Genetic mutations in early-onset Parkinson's disease Mexican patients: molecular testing implications.

Mutations in PARK2, PINK1, and DJ-1 have been associated with autosomal recessive early-onset Parkinson's disease. Here, we report the prevalence of sequence and structural mutations in these three main recessive genes in Mexican Mestizo patients. The complete sequences of these three genes were analyzed by homo/heteroduplex DNA formation and direct sequencing; exon dosage was determined by multiplex ligation-dependent probe amplification and real-time PCR in 127 patients belonging to 122 families and 120 healthy Mexican Mestizo controls. All individuals had been previously screened for the three most common LRRK2 mutations. The presence of two mutations in compound heterozygous or homozygous genotypes was found in 16 unrelated patients, 10 had mutations in PARK2, six in PINK1, and none in DJ-1. Two PARK2-PINK1 and one PARK2-LRRK2 digenic cases were observed. Novel mutations were identified in PARK2 and PINK1 genes, including PINK1 duplication for the first time. Exon dosage deletions were the most frequent mutations in PARK2 (mainly in exons 9 and 12), followed by those in PINK1. The high prevalence of heterozygous mutations in PARK2 (12.3%) and the novel heterozygous and homozygous point mutations in PINK1 observed in familial and sporadic cases from various states of Mexico support the concept that single heterozygous mutations in recessive Parkinson's disease genes play a pathogenic role. These data have important implications for genetic counseling of Mexican Mestizo patients with early-onset Parkinson's disease. The presence of digenic inheritance underscores the importance of studying several genes in this disease. A step-ordered strategy for molecular diagnosis is proposed.

Carcass and meat quality characteristics of Brahman cross bulls and steers finished on tropical pastures in Costa Rica.

Forty-eight male calves (3/4 Brahman×1/4 Charolais) were used to determine carcass cutability and meat tenderness of Longissimus lumborum (LL), Gluteus medius (GM), Semitendinosus (ST) and Psoas major (PM) steaks from lighter weight carcasses of bulls and steers castrated at 3, 7, or 12 mo of age grown under tropical pasture conditions. Steaks from steers had lower (more tender) LL Warner-Bratzler shear force (WBSF) values than those from bulls. Steaks from steers castrated at 3 mo had lower GM WBSF than those from bulls. For PM steaks, those aged 28 d had lower WBSF than those aged 2d. Steaks aged 28 d had the lowest LL and GM WBSF and steaks aged 2d had the highest LL, GM, and ST WBSF. Castration at younger ages is recommended because it provides improvement in LL and GM tenderness over bulls with no differences in carcass traits or subprimal yields.

Uso de Cinacalcet en el tratamiento del hiperparatiroidismo persistente post-trasplante renal. Experiencia en un centro de Argentina / Use of Cinacalcet in the treatment of persistent hyperparathyroidism post-renal transplant. A single center experience in Argentina

Introducción: El trasplante renal se asocia con disminución de los niveles séricos de parathormona (PTH). La persistencia de valores elevados de PTH asociado a hipercalcemia es sugestiva de hiperparatiroidismo persistente. El hiperparatiroidismo persistente es un factor de riesgo para calcificaciones vasculares, pérdida de masa ósea y supervivencia del injerto. El cinacalcet actúa sobre los receptores calcio (Ca) sensibles aumentando su activación por el Ca iónico, disminuyendo los niveles de PTH, Ca y fosforo (P) plasmático. El objetivo de este estudio es evaluar la efectividad y seguridad del cinacalcet en pacientes Trasplantados renales con hiperparatiroidismo persistente e hipercalcemia. Material y métodos: Se realizó un estudio retrospectivo y observacional en 14 pacientes trasplantados renales que recibieron cinacalcet durante al menos 3 meses como tratamiento del hiperparatiroidismo. Resultados: La PTHi pre-cinacalcet fue 159 ± 70 pg/ml; al mes fue 151 ± 110 pg/ml; a los 3 meses 150 ± 96 pg/ ml, a los 6 meses de 142 ± 64 y al año 139 ± 75 pg/ml. El descenso de la PTHi no fue significativo. El Ca sérico bajó en forma significativa de 11.3 ± 0.8 a 10.0 ± 0.8 mg/dl al mes del tratamiento (p< 0.001) manteniendo sus valores estables a los 3 (10.2 ± 1.0), 6 (10.3 ± 0.5) y 12 (10 ± 0.4) meses. El P fue 2.7 ± 0.79mg/dl al inicio del tratamiento, manteniendo valores estables en los meses 3, 6 y 12. La dosis media de cinacalcet al inicio fue de 30 mg aumentando en forma no significativa al 3º mes a 32 ± 12 mg/d, al 6º mes 40 ± 22 mg/d y al año 41.6 ± 18 mg/d. Conclusión: En esta pequeña cohorte de estudio de pacientes con hiperparatiroidismo persistente e hipercalcemia, el cinacalcet fue efectivo en bajar los niveles de Ca (p< 0.001), no teniendo el mismo efecto sobre la PTHi.

Background: Renal transplant (RTx) is associated with the decrease in serum parathyroidhormone (PTH) levels. The persistence of high PTH levels associated to hypercalcemia is suggestive of persistent hyperparathyroidism (pHPT). pHPT is a risk factor for vascular calcifications, bone loss, and graft survival. Cinacalcet acts on the calcium sensing receptor increasing their activation by ionic Ca, reducing serum PTH, Ca, and phosphate (P) levels. The objective of this study was to evaluate the efficacy and safety of cinacalcet in RTx patients with pHPT and hypercalcemia. Material and methods: We performed a retrospective, observational study in 14 RTx patients who received cinacalcet for at least 3 months as part of the pHPT treatment. Results: Pre-cinacalcet iPTH levels were 159 ± 70 pg/ml; after one month it was 151 ± 110 pg/ml, 150 ± 96 pg/ml at three months, 142 ± 64 at six months and 139 ± 75 pg/ml after one year. The decrease in the iPTH was not significant. The serum Ca significantly decreased from 11.3 ± 0.8 to 10.0 ± 0.8 mg/dl after one month (p< 0.001) keeping serum levels stable after three (10.2 ± 1.0), six (10.3 ± 0.5), and twelve (10 ± 0.4) months. P was 2.7 ± 0.79 mg/dl at the beginning of treatment, keeping their levels stable after 3, 6, and 12 months. The average dose of cinacalcet at the beginning was 30 mg increasing in a non-significant way on the 3rd month to 32 ± 12 mg/d, on the 6th month to 40 ± 22 mg/d, and on the 12th month to 41.6 ± 18 mg/d. Conclusion: In this small cohort of patients with pHPT and hypercalcemia, cinacalcet was effective in reducing serum Ca levels (p< 0.001), but not iPTH.

Procedimientos neuroquirúrgicoscerebrales guiados por estereotaxiarealizados en el Hospital Universitario de San Ignacio (HUSI): evolución a corto y mediano plazo / Neurosurgical Brain Estereotactic- Guided Procedures Performed at Hospital Universitario San Ignacio (HUSI): Development in the Short and Medium Term

Objetivo: Describir los resultados postoperatorios de los pacientes a los que se lesrealizaron procedimientos neuroquirúrgicos cerebrales guiados por estereotaxia enel Hospital Universitario de San Ignacio durante el periodo julio del 2009-julio del2011. Materiales y métodos: Se revisaron las historias clínicas de 78 pacientes,sus características clínicas, la localización de las lesiones en las neuroimágenes,el tipo de procedimiento, los resultados funcionales y los desenlaces a corto ymediano plazo. Resultados: 78 pacientes tuvieron procedimientos neuroquirúrgicosguiados por estereotaxia entre julio del 2009 y julio del 2011. El 64,1 % (n = 50)eran hombres. La localización de las lesiones fue en orden de frecuencia: gangliossubtalámicos, lóbulo frontal, lóbulo temporal, tálamo, unión córtico-subcortical, tallocerebral, ubicación frontotemporal, lóbulo occipital, ubicación parieto-occipital ybase del cráneo. Discusión: La implementación de procedimientos neuroquirúrgicosguiados por estereotaxia sigue siendo una de las mejores opciones en el abordaje depatologías cerebrales profundas o de difícil acceso. Tanto en Colombia como en elresto del mundo son procedimientos con una baja tasa de morbilidad y mortalidad.Conclusiones: Independientemente del tipo de procedimiento guiado por estereotaxiala tasa de complicaciones no excede el 5 %, tasas similares a las obtenidas en laliteratura mundial...

Objective: Retrospective description of postoperativeoutcomes of patients who underwentneurosurgical brain stereotactic guided proceduresat the Hospital Universitario San Ignacioduring the period July 2009-July 2011. Materialsand Methods: A review of medical recordsof 78 patients who were taken to neurosurgicalstereotactic guided procedures at the HospitalUniversitario San Ignaci. We reviewed the clinicalcharacteristics of patients, the location of thelesions on neuroimaging, management, type ofprocedure of each patient, functional results andoutcomes in the short and medium term. Results:78 patients who underwent neurosurgical brainstereotactic guided procedures between July2009 to July 2011 at the Hospital UniversitarioSan Ignacio. The 64.1 % (n = 50) were men. Thelocation of the lesions were in order of frequencysub-thalamic ganglia, frontal lobe, temporallobe, thalamus, cortico-subcortical junction, brainstem,fronto-temporal location, occipital lobe,parieto-occipital location, and at the skull’s base.Discussion: Implementing guided stereotacticneurosurgical procedures remains one of the bestoptions in dealing with deep brain pathologies ordifficult access. In both Colombia and the rest ofthe world, these are procedures with low morbidityand mortality. It must, however, developmulticenter studies that allow us to observe thedevelopment of stereotactic neurosurgery in ourcountry, also develop studies with a larger continuityto assess the long-term outcomes. Conclusions:Whatever type of stereotactic guidedprocedure the rate of complications does not exceed5 %, similar rates to those obtained from theglobal literature...

High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease.

BACKGROUND: Parkin mutations in patients with early-onset Parkinson's disease (EOPD) are estimated to occur in 49% of familial cases and 18% of sporadic cases. METHODS: We analyzed the entire sequence-coding region and dosage mutations of parkin in 63 Mexican-mestizo EOPD patients and 120 controls. RESULTS: Parkin mutations were present in 34 patients (54.0%). Exon rearrangements, predominantly spanning exons 9 and 12 (31.7% and 19.0%, respectively) were present in 32 patients, with 17.5% carrying simple heterozygous and 25.4% carrying compound heterozygous parkin mutations. CONCLUSIONS: A higher frequency of parkin exon rearrangements than of sequence mutations was observed. Patients with parkin exons 9 and 12 rearrangements showed a later age at onset than did cases with other regions affected (40.3 ± 4.5 vs 30.1 ± 8.8; P = .005), suggesting a mutational hot spot in the etiology of Mexican-mestizo patients with EOPD. To our knowledge, this study represents the largest sampling of Mexican-mestizo patients with EOPD cases for which parkin sequence and dosage alterations were analyzed. .

Síndrome de Evans de aparición súbita en el embarazo / Evans syndrome of sudden onset in pregnancy

La trombocitopenia complica hasta el 10 por ciento de los embarazos. El síndrome de Evans es la coexistencia de la trombocitopenia inmune con anemia hemolítica autoinmune. Se presenta un caso de síndrome de Evans durante el embarazo, complicado por preclampsia y neutropenia fetal. Una mujer de 20 años de edad, previamente sana, primigesta, que presentó a las 34 semanas de gestación dolor epigástrico, trombocitopenia y pre eclampsia. Se le realizó parto por cesárea, por presentar síndrome de HELLP. A los 25 días de postparto, reingresó al Hospital con trombicitopenia severa, plaquetas 2000 x mm3 , anemia hemoglobina 5,3g/dl y fiebre. El Coombs directo fue positivo y el análisis posterior demostró la presencia de anticuerpos anti-plaquetarios, y anticardiolipina. Recibió transfusiones de sangre y plaquetas. Se le trató con prednisona, plasmaferesis, azatioprima y finalmente, resolvió su cuadro clínico después de 10 días de internamiento en una unidad de cuidado intensivo.