Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos / Late onset Pompe disease: an analysis of 19 patients from Mexico

Introducción: La enfermedad de Pompe es una miopatía metabólica rara con espectro clínico heterogéneo, especialmente la de inicio tardío, cuya sintomatología es de progresión más lenta y representa un gran reto diagnóstico. Objetivo: Describir el genotipo y las características clínicas de pacientes mexicanos con Pompe de inicio tardío (LOPD). Material y métodos. Se incluyó a 19 pacientes mexicanos con LOPD confirmada mediante actividad enzimática y estudio molecular del gen GAA. Se evaluaron datos clínicos y se revisaron las mutaciones en bases de datos genómicas. Resultados: La mediana de edad de inicio de los síntomas fue de 19 años (rango: 2-43 años), y la edad de diagnóstico, de 36 años (rango: 9-52 años). Los síntomas más frecuentes fueron debilidad axial y proximal (n = 17; 89,5%), marcha basculante (n = 17; 89,5%) e hiperlordosis (n = 7; 36,8%). A 16 pacientes (84,2%) se les realizó electromiografía; 11 (57,8%) describieron patrón miopático y sólo en cinco pacientes (26%) se incluyó la valoración de los músculos paraespinales. Las variantes patogénicas más frecuentes en nuestra casuística fueron c.-32-13T>G, c.1799G>A y c.1082C>T. Conclusiones: Parecido a lo comunicado en publicaciones internacionales, la LOPD en México es clínicamente heterogénea; los pacientes pueden tardar años en llegar al diagnóstico. La debilidad muscular axial y proximal es el dato clínico más frecuente, por lo que la electromiografía debe incluir valoración de los músculos paraespinales. A excepción de una, las mutaciones encontradas en nuestra serie de casos se encuentran previamente descritas en las bases de datos de enfermedad de Pompe.(AU)

Introduction: Pompe disease (PD) is a rare metabolic myopathy with an ample and heterogeneous clinical spectrum, particularly late onset PD (LOPD), which is characterized by appearance at older age and slower disease progression, leading to diagnostic confirmation difficulty and delay. Aim: To describe the genotype and clinical characteristics of Mexican patients with LOPD. Material and methods: Clinical information from 19 Mexican patients with LOPD confirmed with enzyme activity and GAA gene analysis was reviewed. Genetic information of our population was crossed with international genetic databases. Results: Median age between onset of symptoms and diagnosis was 19 years (range 2-43) and diagnostic confirmation 36 years (range 9-52). Most frequently referred symptoms were proximal axial weakness (n = 17; 89.5%), waddling gait (n = 17; 89.5%) and hyperlordosis (n = 7; 36.8%). Sixteen patients (84.2%) were evaluated with electromyography; a myopathic pattern was reported in 11 (57.8%), but only in 5 patients (26%) paraspinal muscle evaluation was included. The most pathogenic mutations in our group were c.-32-13T>G, c.1799G>A and c.1082C>T. Conclusions: Similar to other international publications, LOPD in Mexico is clinically heterogeneous; patients may delay years before diagnosis is established. Axial and proximal weakness is the most frequent clinical feature; thus, electromyography with paraspinal muscle evaluation is essential. Except for one, the mutations found in our patients have been previously reported in PD genetic databases.(AU)

[Late onset Pompe disease: an analysis of 19 patients from Mexico]. / Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos.

INTRODUCTION: Pompe disease (PD) is a rare metabolic myopathy with an ample and heterogeneous clinical spectrum, particularly late onset PD (LOPD), which is characterized by appearance at older age and slower disease progression, leading to diagnostic confirmation difficulty and delay. AIM: To describe the genotype and clinical characteristics of Mexican patients with LOPD. MATERIAL AND METHODS: Clinical information from 19 Mexican patients with LOPD confirmed with enzyme activity and GAA gene analysis was reviewed. Genetic information of our population was crossed with international genetic databases. RESULTS: Median age between onset of symptoms and diagnosis was 19 years (range 2-43) and diagnostic confirmation 36 years (range 9-52). Most frequently referred symptoms were proximal axial weakness (n = 17; 89.5%), waddling gait (n = 17; 89.5%) and hyperlordosis (n = 7; 36.8%). Sixteen patients (84.2%) were evaluated with electromyography; a myopathic pattern was reported in 11 (57.8%), but only in 5 patients (26%) paraspinal muscle evaluation was included. The most pathogenic mutations in our group were c.-32-13T>G, c.1799G>A and c.1082C>T. CONCLUSIONS: Similar to other international publications, LOPD in Mexico is clinically heterogeneous; patients may delay years before diagnosis is established. Axial and proximal weakness is the most frequent clinical feature; thus, electromyography with paraspinal muscle evaluation is essential. Except for one, the mutations found in our patients have been previously reported in PD genetic databases.

TITLE: Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos.Introducción. La enfermedad de Pompe es una miopatía metabólica rara con espectro clínico heterogéneo, especialmente la de inicio tardío, cuya sintomatología es de progresión más lenta y representa un gran reto diagnóstico. Objetivo. Describir el genotipo y las características clínicas de pacientes mexicanos con Pompe de inicio tardío (LOPD). Material y métodos. Se incluyó a 19 pacientes mexicanos con LOPD confirmada mediante actividad enzimática y estudio molecular del gen GAA. Se evaluaron datos clínicos y se revisaron las mutaciones en bases de datos genómicas. Resultados. La mediana de edad de inicio de los síntomas fue de 19 años (rango: 2-43 años), y la edad de diagnóstico, de 36 años (rango: 9-52 años). Los síntomas más frecuentes fueron debilidad axial y proximal (n = 17; 89,5%), marcha basculante (n = 17; 89,5%) e hiperlordosis (n = 7; 36,8%). A 16 pacientes (84,2%) se les realizó electromiografía; 11 (57,8%) describieron patrón miopático y sólo en cinco pacientes (26%) se incluyó la valoración de los músculos paraespinales. Las variantes patogénicas más frecuentes en nuestra casuística fueron c.-32-13T>G, c.1799G>A y c.1082C>T. Conclusiones. Parecido a lo comunicado en publicaciones internacionales, la LOPD en México es clínicamente heterogénea; los pacientes pueden tardar años en llegar al diagnóstico. La debilidad muscular axial y proximal es el dato clínico más frecuente, por lo que la electromiografía debe incluir valoración de los músculos paraespinales. A excepción de una, las mutaciones encontradas en nuestra serie de casos se encuentran previamente descritas en las bases de datos de enfermedad de Pompe.

A Qualitative View of Migration-Related Stressors on the Mental Health of Latinx Americans in the Current Sociopolitical Climate of Hostility Towards Migrants.

This qualitative study aimed to elucidate and contextualize which and how migration-related stressors may influence Latinx Americans' (i.e., US-born; US-citizens) mental health status, including substance misuse. In 2019, a community sample of 22 Latinx Americans were recruited for an in-depth qualitative interview. Eligibility criteria included: being an adult, self-identify as Latinx, report a migration-related stressor, and report at least one symptom of a mental health or substance use problem. Open-ended questions focused on the migrant experience, perceptions and impacts of immigration enforcement, and how these experiences related to their mental health. Using a migration as a social determinant framework, we identified several migration-related stressors at the structural- and social-level of environmental influence that were related to participants' mental health. Findings highlight how migration-related stressors at the structural- and social-level of influence create systematic uncertainty by inducing fear into the daily lives of Latinx Americans.

An aggressive and fatal craniofacial group A Streptococcus infection resulting from a minimally displaced orbital floor fracture.

While sharp, penetrating trauma is often associated with group A Streptococcus (GAS) infections and subsequent necrotizing fasciitis (NF) and streptococcal toxic shock syndrome (STSS), there are scant reports in the oral and maxillofacial surgery literature regarding blunt, non-penetrating trauma in association with these conditions. With a clinical course that initially appears relatively benign following blunt trauma, NF can progress swiftly through the fascial planes and may quickly become life-threatening if the oral and maxillofacial surgeon fails to recognize some of the critical pathognomonic signs. The case of a 64-year-old female who suffered a ground-level mechanical fall with a minimally displaced lateral orbital wall fracture is reported here. This seemingly benign, non-penetrating injury subsequently developed into rapidly progressive, fatal NF and STSS. This case is used to highlight the necessity for early detection of NF and STSS prior to rapid clinical decline, as these scenarios, particularly bilateral peri-orbital NF with resulting mortality, have been reported infrequently following blunt, craniofacial trauma in the literature related to this specialty.

Refrigerated platelets stored in whole blood up to 5 days adhere to thrombi formed during hemorrhagic hypotension in rats.

Essentials In vivo function of platelets stored at various conditions was studied in normo- and hypotension. Refrigerated platelets stored up to 5 days performed as well as those stored at room temperature. Platelet adhesion and thrombus formation were higher in ruptured vessels of hemorrhaged animals. In vivo data suggest that refrigerated platelets are hemostatically effective during hypotension. SUMMARY: Background There is renewed interest in the therapeutic use of cold-stored platelets for bleeding patients. However, critical information is absent or partially available in vitro. Therefore, thrombus formation and platelet adhesion were studied in vivo, in situ, using bleeding and thrombosis models in instrumented rats, and confocal intravital videomicroscopy. Objectives We tested the hypothesis that refrigerated (4 °C) platelets (stored for 24 h or 5 days) participated in thrombus formation as well as platelets stored at room temperature (RT, 22 °C). This hypothesis was tested in normovolemia and hemorrhagic hypotension. Methods & Results After fluorescently-labeled platelet infusion, endothelial injury and vessel rupture were laser-induced in cremaster microvessels and platelet adhesion in > 230 developing thrombi was evaluated. Blood samples were collected for biochemistry and coagulation assays while multiple systemic physiologic parameters were recorded. Hemorrhagic hypotension study animals were subjected to 40% hemorrhage, leading to hypotension and hemodilution, during in vivo platelet adhesion assessments. The fluorescence intensity associated with labeled platelet adherence provided a quantitative index of adhesion. Cold-stored platelets performed as well as those stored at RT in normovolemic animals. During hypotension, cold-stored platelets still performed as well as RT-stored platelets, whereas platelet adhesion and thrombus formation were increased relative to normovolemic animals, in bleeding model experiments. Conclusions We found the methodology suitable for evaluating platelet function in vivo after different storage conditions in fully monitored animals. Refrigerated platelets (stored up to 5 days) participated as well as RT-stored platelets in thrombi formed after hemorrhage, suggesting that refrigerated platelets are effective during hypotensive situations.

Use of propofol as an induction agent in the acutely injured patient.

PURPOSE: Etomidate is a commonly used agent for rapid sequence induction (RSI) in trauma due to its limited hemodynamic effects. Given a recent nationwide shortage of etomidate, alternative induction agents may be required. Propofol is a frequent substitute; however, concern exists regarding its potential hypotensive effects. The study attempts to determine the hemodynamic effects of propofol and etomidate following RSI in trauma bay. METHODS: A retrospective study was performed on 76 consecutive trauma patients requiring RSI at a single academic medical center. Patients were stratified by age, gender, mechanism of injury, Injury Severity Score (ISS), and Glasgow Coma Scale (GCS). Pre-induction and post-induction hemodynamic parameters were evaluated, and a multivariate regression analysis was performed. RESULTS: The mean age was 42, ISS was 13, and GCS was 9.8. The mean dose of propofol was 127 ± 5 mg and the mean dose of etomidate was 21 ± 6 mg. Patients who received propofol were younger and had a lower ISS. The etomidate group had significantly increased post-induction systolic blood pressure but no difference in mean arterial pressure or heart rate when compared to pre-induction parameters. The propofol group had no significant changes in any post-induction parameter compared to pre-induction parameter. CONCLUSION: RSI with propofol did not result in hypotension in our patient population, suggesting that a reduced dose of propofol may represent a reasonable alternative to etomidate in hemodynamically stable trauma patient. Further research is warranted to assess the safety of propofol in the acutely injured patient.

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.

This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems. Diagnosis is based on screening urinary glycosaminoglycans and confirmation by measuring I2S activity and analyzing I2S gene mutations. Idursulfase (recombinant I2S) (Elaprase(®), Shire) enzyme replacement therapy (ERT), designed to address the underlying enzyme deficiency, is approved treatment and improves walking capacity and respiratory function, and reduces spleen and liver size and urinary glycosaminoglycan levels. Additional measures, responding to the multi-organ manifestations, such as abdominal/inguinal hernia repair, carpal tunnel surgery, and cardiac valve replacement, should also be considered. Investigational treatment options such as intrathecal ERT are active areas of research, and bone marrow transplantation is in clinical practice. Communication among care providers, social workers, patients and families is essential to inform and guide their decisions, establish realistic expectations, and assess patients' responses.

Defining cell culture conditions to improve human norovirus infectivity assays.

Significant difficulties remain for determining whether human noroviruses (hNoV) recovered from water, food, and environmental samples are infectious. Three-dimensional (3-D) tissue culture of human intestinal cells has shown promise in developing an infectivity assay, but reproducibility, even within a single laboratory, remains problematic. From the literature and our observations, we hypothesized that the common factors that lead to more reproducible hNoV infectivity in vitro requires that the cell line be (1) of human gastrointestinal origin, (2) expresses apical microvilli, and (3) be a positive secretor cell line. The C2BBe1 cell line, which is a brush-border producing clone of Caco-2, meets these three criteria. When challenged with Genogroup II viruses, we observed a 2 Log(10) increase in viral RNA titer. A passage experiment with GII viruses showed evidence of the ability to propagate hNoV by both quantitative reverse transcription polymerase chain reaction (qRT-PCR) and microscopy. In our hands, using 3-D C2BBe1 cells improves reproducibility of the infectivity assay for hNoV, but the assay can still be variable. Two sources of variability include the cells themselves (mixed phenotypes of small and large intestine) and initial titer measurements using qRT-PCR that measures all RNA vs. plaque assays that measure infectious virus.

Gammacamara portátil en la localización intraoperatoria del ganglio centinela en cáncer de mama: experiencia en el Hospital Nacional Guillermo Almenara-EsSalud / Portable gamma camera in intraoperative localization of sentinel node in breast cancer: experience at the Hospital Nacional Guillermo Almenara-EsSalud

Objetivo: Mostrar la experiencia del uso de la gammacamara portátil en la localización intraoperatoria del ganglio centinela en cáncer de mama. Material y Métodos: Fueron incluidas en el estudio 103 pacientes mujeres con diagnostico de cáncer de mama con axila clínica y radiologicamente negativa. Se realizo inyección periareolar de un radiotrazador y de la sustancia colorante azul patente. Se adquirieron imágenes planares de la axila antes y durante la extracción del ganglio centinela. Se utilizo en el intraoperatorio una gammacámara portátil para la visualización del o los ganglios centinelas. Se comprobó ôcampo libreõ en todos los pacientes con la gammacámara portátil. Resultados: El promedio de la edad de los pacientes fue 52.5 años. La media de tamaño tumoral fue de 2.5 cm. La media de ganglios encontrados fue de 1.9 ganglios centinelas por paciente. Se localizaron los ganglios centinelas en el 91.2% de los pacientes, de los cuales 24 pacientes presentaron metástasis. El uso de la gamma cámara intraoperatoria mostro una sensibilidad de 97.8% y especificidad de 88.9% para la visualización de ganglios centinelas. Conclusiones: El empleo de la gammacamara portátil intraoperatoria en la localización del ganglio centinela en cáncer de mama es un método de alta sensibilidad y especificidad, útil para determinar, que todos los ganglios centinelas han sido extirpados, es decir ôcampo libreõ.

Objective: To show the experience of the use of portable gamma camera intraoperative node localization in breast cancer sentinel. Material and Methods: The study included 103 female patients diagnosed with breast cancer with clinical axillary and radiologically negative. Periareolar injection was performed a radiotracer and blue dye substance patent. It planar images acquired before and during axillary sentinel lymph node removal. Was used in the intraoperative a portable gamma camera for viewing or sentinel node was found "free field" for all patients the portable gamma camera. Results: The mean age of patients was 52.5 years. The mean tumor size was 2.5 cm. The average nodes found was 1.9 sentinel nodes per patient. Sentinel nodes were found in 91.2% of patients, of whom 24 patients had metastases. The use of intraoperative gamma camera showed a sensitivity 97.8% and specificity of 88.9% for the visualization of sentinel nodes. Conclusions: The use of intraoperative portable gamma camera in the location of the sentinel node in cancer breast is a method of high sensitivity and specificity, useful to determine that all sentinel nodes have been removed and free field.

Alcaftadine: a topical antihistamine for use in allergic conjunctivitis.

Alcaftadine (Lastacaft®; Allergen, Inc.) is a broad-spectrum antihistamine displaying a high affinity for histamine H1 and H2 receptors and a lower affinity for H4 receptors. It also exhibits modulatory action on immune cell recruitment and mast cell stabilizing effects. The authors reviewed all available English-language literature characterizing the efficacy, safety and pharmacokinetic profile of alcaftadine ophthalmic solution. In the studies reviewed, alcaftadine was more effective than placebo and at least as effective as olopatadine 0.01% in preventing ocular itching at 15 minutes and at 16 hours after administration. Alcaftadine 0.025% ophthalmic solution has been approved by the U.S. Food and Drug Administration for prevention of itching associated with allergic conjunctivitis in patients over 2 years of age. Comparative efficacy data of alcaftadine to other ocular antihistamine/mast cell stabilizers are limited.

Integrating the issues of world animal health and world public health into the veterinary curriculum: a Southeast Asian perspective.

The authors analysed the curricula of five veterinary schools in Southeast Asia to determine how successfully they integrate the issues of global animal health and global public health into their programmes. Two schools offer a five-year programme while the remaining three offer a six-year programme. The core courses within the curricula range from 145 to 224 credit hours, in total. In general, world animal health and world public health are well integrated into the veterinary curriculum. Most curricula allocate approximately 3% of their total credit hours to subjects associated with animal and public health, but other subjects that may contain discussions on these issues range between 6% and 10%. Most veterinary schools in Southeast Asia offer a Master's programme in Veterinary Public Health, with detailed emphasis on animal and public health but focusing principally on topics of local importance. At the same time, undergraduate and post-graduate veterinary students are exposed to current issues in animal and public health through regional and international scientific meetings.

Infant food from quality protein maize and chickpea: optimization for preparing and nutritional properties.

The present study had two objectives: to determine the best combination of nixtamalized maize flour (NMF) from quality protein maize and extruded chickpea flour (ECF) for producing an infant food, and to evaluate the nutritional properties of the optimized NMF/ECF mixture and the infant food. Response surface methodology (RSM) was applied to determine the best combination of NMF/ECF; the experimental design (Lattice simplex) generated 11 assays. Mixtures from each assay were evaluated for true protein and available lysine. Each one of 11 mixtures was used for preparing 11 infant foods that were sensory evaluated for acceptability. A common optimum value for the three response variables was obtained utilizing the desirability method. The best combination of NMF/ECF for producing an infant food was NMF = 26.7%/ECF = 73.3%; this optimized mixture had a global desirability of 0.87; it contained 19.72% dry matter (DM) proteins, 6.10% (DM) lipids, 71.45% (DM) carbohydrates, and 2.83% (DM) minerals; its essential amino acids profile covered the amino acids requirements for children 10-12 years old. The infant food prepared from optimized mixture had an in vitro protein digestibility of 87.9%, and a calculated protein efficiency ratio of 1.86. Infant food could be used to support the growth of infants in developing countries.

Validating a computerized neuropsychological test battery for mixed ethnic lupus patients.

Patients with systemic lupus erythematosus (SLE) often show cognitive impairment on traditional neuropsychological tests; however, many of these tests are unsuitable for use with mixed ethnic populations. Computer-administered cognitive tests are promising, but have not been validated against traditional tests or with predominantly Hispanic samples. We gave 67 lupus patients a computer-administered test battery (Automated Neuropsychological Assessment Metrics--ANAM) and a battery of traditional neuropsychological tests. The two batteries were compared using correlation and multiple regression analyses. All patients were fluent in English, 54% were Hispanic and 13% were bilingual. Non-Hispanic patients were predominantly European American (37%). About 80% of patients were rated as impaired on traditional tests. Hispanics were younger, had less education and more current SLE disease activity than non-Hispanics; but did not differ in lifetime SLE-related organ damage or current steroid use. Hispanics and younger patients were more impaired on many of the traditional tests, while ANAM was not affected by Hispanic ethnicity or education. ANAM tests were moderately correlated with analogous traditional tests. Age and selected ANAM scores accounted for about 60% of the variance in the traditional battery. These results replicate the high prevalence of cognitive deficits in SLE found by others and suggest that computer-administered tests like ANAM may be useful for assessment of cognitive impairment in mixed-ethnic samples. Confounding variables such as age, education, English language fluency and prior experience with tests were identified and need to be controlled statistically or with comparison groups in future studies.

Agranolocitosis inducida por fármacos (AIF) / Drugs induced agranulocytosis (DIA)

Objetivo: Evaluar la etiología y evolución de la AIF en la Tercera Cátedra de Clínica Médica. Estudio prospectivo, descriptivo, longitudinal, cohorte, donde se incluyeron las AIF que no fueron por drogas antineoplásicas. Se incluyó 20 pac. con promedio de edad 41 años. Sexo femenino 13 (65pto), masculino 7 (35pto), todos consultaron por escalofríos y fiebre, con un promedio de evolución de 8 días antes de la consulta, rango (2-15). Los medicamentos involucrados furon: dipirona en 12 (60pto), metronidazol + dipirona en 2 (10pto), cloranfenicol + dipirona, metronidazol, PTU, ranitidina, azatioprina y cloroquina 1(5pto) respectivamente. La odinafagia y necrosis de amigdalas se observaron en 12 (60pto) y la necrosis de la piel en 9 (45pto). El día del ingreso los granulocitos estaban ausentes 0<100mm/3 en sangre periférica en 10(50pto) y en 7 (35pto) en médula ósea. En 13 (65pto) el mielograma mostró inicio de recuperación. En todos se realizaron hemocultivos. Conclusión: La mortalidad fue muy elevada y la dipirona el medicamento más involucrado en el desarrollo de la agranulocitocis.

Detección de anticuerpos contra Lawsonia intracellularis en porcinos provenientes de granjas tecnificadas del valle de Lima y Huaral / Detection of antibodies against Lawsonia intracellularis in pigs from farms in the Lima valley Technified and Huaral

El presente estudio tuvo como objetivo detectar la presencia de anticuerpos contra Lawsonia intracellularis en cerdos de granjas tecnificadas de los valles de Lima y Huaral. Los anticuerpos fueron detectados mediante la prueba de inmunofluorescencia indirecta en muestras de suero de 197 cerdos de tres edades diferentes. El 38.7 por ciento de los sueros analizados resultaron positivos, correspondiendo el 18.9, 44.3 y 45.5 por cieto a las granjas ubicadas en las zonas de Huaraz, Cieneguilla y Lurín, respectivamente. La prevalencia registrada en animales destetados, de engorde y en hembras de reemplazo fue de 24.6, 47.6 y 44.7 por ciento, respectivamente. La presencia de anticuerpos evidencia la exposición de los cerdos a la bacteria, por lo que se debe reconocer a la Lawsonia intracellularis como un nuevo agente etiológico de diarreas que afecta la industria porcina en el Perú.

The aim of the present study was to detect antibodies against Lawsonia intracellularis in pigs from well-managed farms in Lima and Huaral valleys. Antibodies were detected using the indirect immunofluorescence test in 197 serum samples from pigs of three different ages. 38.7 percent of the samples were positive, corresponding 18.9, 44.3 and 45.5 percent to farms located in the areas of Huaraz, Cieneguilla and Lurín, respectively. The prevalence recorded in weaned and fattened pigs, and gilts were 24.6, 47.6 y 44.7 percent, respectively. The presence of antibodies indicates that these pigs have been exposed to the bacteria, so Lawsonia intracellularis should be considered as a new microorganism causing diarrhea and therefore, affecting the pig industry in the country.

Neuropsychiatric syndromes in lupus: prevalence using standardized definitions.

OBJECTIVE: The San Antonio Lupus Study of Neuropsychiatric Disease is a longitudinal study designed to characterize the spectrum of and important risk factors for specific neuropsychiatric systemic lupus erythematosus (NPSLE) syndromes. METHODS: Subjects must meet criteria for SLE and must be at least 18 years of age. A standardized medical history, neurologic, rheumatologic, and psychiatric examinations, computerized neuropsychological evaluation, and serologic testing are performed. RESULTS: This report is based on the first 128 subjects (120 women and 8 men) who completed the initial study visit. Data from this initial study visit were evaluated for the prevalence of NPSLE using the American College of Rheumatology case definitions for 19 NPSLE syndromes. One or more NPSLE syndromes were present in 80% of subjects: cerebrovascular disease (2, 2%; ischemic stroke); headaches (73, 57%); mononeuropathy (9, 8%; median 8, ulnar 1); movement disorder (1, 1%; chorea); neuropathy, cranial (2, 2%; trigeminal); polyneuropathy (29, 22%; sensorimotor); seizures (21, 16%; partial); anxiety disorder (27, 24%); major depressive-like episode (37, 28%); mood disorder with depressive features (21, 19%); mood disorder with manic features (3, 3%); mood disorder with mixed features (1, 1%); psychosis (6, 5%). In a subset of 67 patients who received standardized neuropsychological testing, 21% had normal results. In the remainder, the following levels of impairment were seen: 43% mild, 30% moderate, and 6% severe. CONCLUSIONS: The prevalence of NPSLE was high in this cohort of unselected patients with SLE. Headaches, cognitive dysfunction, and psychiatric disorders were the most common NPSLE syndromes seen. These results will be easily comparable to other studies also using standardized diagnostic criteria. However, the lack of ethnicity and language-matched normative neuropsychological data may make comparisons of cognitive dysfunction in SLE populations difficult.

Presencia de anticuerpos contra Lawsonia intracellularis por inmunofluorescencia indirecta en porcinos de las zonas de Lima y Huaral / Presence of antibodies against Lawsonia intracellularis for inmunofluorescence hint in pigs of the zones of Lima and Huaral

El presente estudio tuvo por objetivo detectar la presencia de anticuerpos contra Lawsonia intracellularis, causante de Enteropatía Proliferativa Porcinas en cerdos provenientes de granjas porcinas tecnificadas del valle de Lima y Huaral. Los anticuerpos fueron detectados mediante la prueba de Inmunofluorescencia Indirecta (IFI) en 197 muestras de sueros procedentes de granjas ubicadas en Lurín, Huaral y Cieneguilla, se muestreó 2 granjas en cada zona y en animales destetados, engorde y hembras de reemplazo. El 38.7 por ciento (73/197) de los sueros analizados presentaron anticuerpos contra la bacteria. 18.96 por ciento en Huaral, 44.3 por ciento en Cieneguilla y 45.5 por ciento en Lurín. En destete, engorde y hembras de reemplazo se encontró 24.6 por ciento, 47.6 por ciento y 44.7 por ciento respectivamente. La presencia de anticuerpos evidencia la exposición de los animales a Lawsonia intracellularis considerándola como un posible nuevo agente etiológico de diarreas que afecta la industria porcina de nuestro país.

Retinol concentrations in capillary dried blood spots from healthy volunteers: method validation.

BACKGROUND: Vitamin A deficiency (VAD) is a major public health problem in the developing world, leading to >3 million eye-related problems in preschool children. Nearly 250 million children have subclinical VAD, resulting in a 23% increase in childhood mortality. Difficulties in obtaining samples to assess VAD have hampered the detection, intervention, and surveillance of VAD. The use of dried blood spots (DBS) could ameliorate many problems of vitamin A assessment. OBJECTIVE: The objective of this study was to validate the use of retinol in DBS for vitamin A assessment by comparing it with venous and capillary serum retinol. DESIGN: Venous and capillary blood specimens were obtained simultaneously from 20 healthy adult volunteers. From each blood specimen, both DBS and liquid serum were prepared (a total of 80 samples). All specimens were maintained at -70 degrees C until HPLC analysis. RESULTS: The mean retinol concentrations in the 4 sample types were as follows: venous serum (2.02 +/- 0.42 micromol/L, or 58 +/- 12 microg/dL), capillary serum (2.06 +/- 0.42 micromol/L, or 59 +/- 12 microg/dL), venous DBS (2.06 +/- 0.49 micromol/L, or 59 +/- 14 microg/dL), and capillary DBS (2.09 +/- 0.45 micromol/L, or 60 +/- 13 microg/dL). Of the 6 possible 2-way combinations, the R(2) values ranged from 0.77 for capillary DBS versus venous DBS to 0.95 for venous serum versus capillary serum. CONCLUSIONS: DBS retinol measured by HPLC is comparable with serum retinol. Thus, it is possible to compare and combine blood retinol concentration data obtained from DBS with current and historic measurements in serum.

Doubly homologated dihalovinyl and acetylene analogues of adenosine: synthesis, interaction with S-adenosyl-L-homocysteine hydrolase, and antiviral and cytostatic effects.

Treatment of the 6-aldehyde derived by Moffatt oxidation of 3-O-benzoyl-1,2-O-isopropylidene-alpha-D-ribo-hexofuranose (2c) with the dibromo- or bromofluoromethylene Wittig reagents generated in situ with tetrabromomethane or tribromofluoromethane, triphenylphosphine, and zinc gave the dihalomethyleneheptofuranose analogues 3b and 3d, respectively. Acetolysis, coupling with adenine, and deprotection gave 9-(7,7-dibromo-5,6, 7-trideoxy-beta-D-ribo-hept-6-enofuranosyl)adenine (5a) or its bromofluoro analogue 5b. Treatment of 5a with excess butyllithium provided the acetylenic derivative 9-(5,6, 7-trideoxy-beta-D-ribo-hept-6-ynofuranosyl)adenine (6). The doubly homologated vinyl halides 5a and 5b and acetylenic 6 adenine nucleosides were designed as putative substrates of the "hydrolytic activity" of S-adenosyl-L-homocysteine (AdoHcy) hydrolase. Incubation of AdoHcy hydrolase with 5a, 5b, and 6 resulted in time- and concentration-dependent inactivation of the enzyme (K(i): 8.5 +/- 0.5, 17 +/- 2, and 8.6 +/- 0.5 microM, respectively), as well as partial reduction of enzyme-bound NAD(+) to E-NADH. However, no products of the "hydrolytic activity" were observed indicating these compounds are type I mechanism-based inhibitors. The compounds displayed minimal antiviral and cytostatic activity, except for 6, against vaccinia virus and vesicular stomatitis virus (IC(50): 15 and 7 microM, respectively). These viruses typically fall within the activity spectrum of AdoHcy hydrolase inhibitors.