The patient journey of fibromyalgia in Latin America.

OBJECTIVES: To explore the patient journey of people with fibromyalgia (FM) in Latin American countries in order to identify problems in health care and other areas that may be resolvable. METHODS: Qualitative study with phenomenological and content analysis approach through focus groups and patient journey (Ux; User Experience) methodology. Nine virtual focus groups were conducted with FM patients and healthcare professionals in Argentina, Mexico and Colombia recruited from key informants and social networks. RESULTS: Forty-three people participated (33 were clinicians and 10 were patients). The agents interacting with the patient in their disease journey are found in three spheres: healthcare (multiple medical specialists and other professionals), support and work life (including patient associations) and socioeconomic context. The line of the journey presents two large sections, two loops and a thin dashed line. The two major sections represent the time from first symptoms to medical visit (characterized by self-medication and denial) and the time from diagnosis to follow-up (characterized by high expectations and multiple contacts to make life changes that are not realized). The two loop phases include (1) succession of misdiagnoses and mistreatments and referrals to specialists and (2) new symptoms every so often, visits to specialists, diagnostic doubts, and impatience. Very few patients manage to reach the final phase of autonomy. CONCLUSION: The journey of a person with FM in Latin America is full of obstacles and loops. The desired goal is for all the agents involved to understand that self- management by the patient with FM is an essential part of success, and this can only be achieved with early access to resources and guidance from professionals.

Rheumatological adverse events secondary to immune checkpoint inhibitors.

The first experiences with a group of drugs called immune checkpoint inhibitors for the treatment of cancer were described in 2010. They are currently used in many tumours, with successful survival outcomes but a new profile of adverse events. This new spectrum of immune-mediated toxicities includes an exaggerated inflammatory response of T lymphocyte and the development of autoimmune diseases or similar pathologies. Of these, of particular note are the rheumatological toxicities. This review aims to alert internists and rheumatologists to their recognition and clinical management.

Refractory fibromyalgia.

In the medical literature, there are only a few references on refractory fibromyalgia and there is no consensus definition available on this concept. Some definitions of refractory fibromyalgia have been proposed based on the lack of response to a number of medications, and perhaps the most appropriate term is treatment-refractory fibromyalgia. To achieve the definition of treatment-refractory fibromyalgia, it is necessary to consider several previous steps, such as making sure the diagnosis has been made properly and a differential diagnosis with entities that can mimic fibromyalgia symptoms (including complete physical examination and laboratory test) has been made. The possibility that another factor that alters the response to treatment should be investigated, and in particular review all prescribed medication and search for some non-medical reasons that could mask the response to treatment (e.g., legal compensation). The definition of refractory fibromyalgia is complex and probably should include a lack of response to a specified number of drugs or to combination therapy with at least two non-pharmacological measures. In this article, it is not our purpose to present a formal definition, but to raise the possible bases for this purpose. We believe that it is a subject that must be discussed extensively before reaching a consensus definition. Key Points • There is no appropriate definition to classify fibromyalgia patients who do not respond to the usual pharmacological and non-pharmacological measures according to the national or international guidelines. • A consensus definition is required to classify these patients, which could help standardize future management strategies. In this article, we propose the bases on which refractory fibromyalgia could be defined.

FRAX-based assessment and intervention threshold curves for osteoporosis evaluation in Ecuador / Curvas de intervención y evaluación basadas en FRAX Ecuador

RESUMEN Introducción: La herramienta FRAX ha sido validada y adaptada a diferentes países, cubriendo a casi el 80% de la población mundial, incluido Ecuador, donde fue adaptada en 2009. El objetivo de este estudio fue elaborar curvas de evaluación e intervención basadas en FRAX Ecuador. Métodos: Utilizando el modelo FRAX Ecuador, calculamos la probabilidad de fractura osteoporótica mayor y fractura de cadera femenina sin ningún factor de riesgo y sin la inclusión de DMO. Las probabilidades se calcularon en intervalos de 5 años de 40 a 90 años. Las probabilidades de fractura mayor y de cadera se calcularon en 3 escenarios diferentes: 1. Historia de fractura previa sin la inclusión de DMO, 2. T-Score de -2,5 SD sin otros factores de riesgo clínico, 3. T-Score -1,5 SD sin otros factores de riesgo clínico. Resultados: En mujeres sin factores de riesgo, la probabilidad de fractura osteoporótica mayor aumentó con la edad del 0,4% a los 40 años al 7,3% a los 90 años. La probabilidad de fractura de cadera aumentó con la edad de 0% a los 40 años a 3,6% a los 90 anos. La probabilidad de fractura osteoporótica mayor aumentó en mujeres con un puntaje T de -2,5 SD de 0,9% a los 40 años a 5,5% a los 90 años; con puntaje T de -1,5 DE, de 0,6% a los 40 años a 3,9% a los 90 anos. Conclusión: Los datos muestran la importancia de aplicar herramientas como FRAX, específicas para cada país y también la creación de curvas de evaluación e intervención que permitan discernir según cada paciente la necesidad de utilizar recursos como DXA y tratamientos específicos.

ABSTRACT Introduction: FRAX has been validated and adapted to different countries, covering almost 80% of the world's population, including Ecuador where it was adapted in 2009. The purpose of this study is to elaborate evaluation and intervention curves based on FRAX Ecuador. Methods: Using the FRAX Ecuador model, we calculated the probability of a major osteoporotic fracture and a female hip fracture without any risk factor and without the inclusion of BMD. The probabilities were calculated in 5-year intervals from 40 to 90 years. The probabilities of major fractures and hip fractures were calculated in 3 different scenarios: 1. History of previous fracture without the inclusion of BMD, 2. T score -2.5 SD without other clinical risk factors, 3. T score -1.5 SD without other clinical risk factors. Results: In women without risk factors, the probability of a major osteoporotic fracture increased with age from 0.4% at 40 years to 7.3% at 90 years. The probability of hip fracture increased with age from 0% at 40 years to 3.6% at 90 years. The probability of a major osteoporotic fracture increased in women with a T score of -2.5 SD from 0.9% at 40 years to 5.5% at 90 years; with a T-score of -1.5 SD, from 0.6% at 40 years to 3.9% at 90 years. Conclusion: Data shows the importance of applying tools such as FRAX, specific for each country and also the creation of evaluation and intervention curves that allow discerning according to each patient the need for the use of resources such as DXA and specific treatments.

Denosumab Versus Risedronate in Glucocorticoid-Induced Osteoporosis: Final Results of a Twenty-Four-Month Randomized, Double-Blind, Double-Dummy Trial.

OBJECTIVE: Clinical trial results have shown that, in glucocorticoid-treated patients, treatment with denosumab 60 mg subcutaneously once every 6 months (Q6M) increased spine and hip bone mineral density (BMD) at month 12 significantly more than treatment with risedronate 5 mg orally once daily (QD). The present analysis was performed to compare efficacy and characterize safety through month 24. METHODS: This phase III study enrolled men and women ≥18 years old who had received ≥7.5 mg daily prednisone or equivalent for <3 months (glucocorticoid-initiating) or for ≥3 months (glucocorticoid-continuing) before screening. All patients <50 years old had a history of osteoporotic fracture. Glucocorticoid-continuing patients ≥50 years old had T scores of -2.0 or less (or -1.0 or less with fracture history). Patients were randomized (1:1) to receive denosumab 60 mg subcutaneously Q6M or risedronate 5 mg orally QD for 24 months, with daily calcium and vitamin D. RESULTS: Of 795 patients, 590 (74.2%) completed the study (in the glucocorticoid-initiating group, 109 of 145 patients treated with denosumab and 117 of 145 patients treated with risedronate; in the glucocorticoid-continuing group, 186 of 253 patients treated with denosumab and 178 of 252 patients treated with risedronate). Denosumab was superior to risedronate in increasing lumbar spine and total hip BMD at all time points assessed, among glucocorticoid-initiating patients (24-month lumbar spine: BMD increase of 6.2% versus 1.7%, respectively [P < 0.001]; 24-month total hip: BMD increase of 3.1% versus 0.0% [P < 0.001]) and among glucocorticoid-continuing patients (24-month lumbar spine: BMD increase of 6.4% versus 3.2% [P < 0.001]; 24-month total hip: BMD increase of 2.9% versus 0.5% [P < 0.001]). Adverse events, serious adverse events (including infections), and fractures were similar between treatment groups. CONCLUSION: Denosumab was superior to risedronate in terms of increases in spine and hip BMD through month 24, and the safety profile was similar between treatment groups. Denosumab may offer a new osteoporosis treatment option for glucocorticoid-treated patients.

Evaluación infectológica inicial y seguimiento prospectivo de una cohorte de pacientes sometidos a inmunosupresión inducida / Initial assessment and prospective follow-up of a cohort of patients with immunosuppressive therapy by an infectious diseases physician

El uso de inmunosupresores generó una población creciente de pacientes con defectos en el sistema inmune. Creamos un consultorio especializado en la atención infectológica de dichos pacientes. Objetivos: Describir los antecedentes clínicos y la prevalencia de infecciones latentes, evaluar el estado de vacunación, determinar la necesidad de profilaxis antimicrobiana. Describir la frecuencia de aparición infecciones oportunistas (IO). Materiales y métodos: estudio descriptivo, prospectivo de pacientes atendidos en un consultorio que estuvieran bajo tratamiento inmunosupresor (noviembre 2015-enero 2017). Se recolectaron datos demográficos, clínicos y factores de riesgo para IO. Se realizó pesquisa de tuberculosis (TB), serologías para HIV, hepatitis A, B y C, sífilis, toxoplasmosis, Chagas, búsqueda de Strongyloides spp. Se indicaron vacunas de acuerdo con las recomendaciones actuales. Se realizó seguimiento para detección de IO. Resultados: n=197, media de edad 50,7 años (DE 14), mujeres 79,7%. Enfermedades de base: artritis reumatoidea 52%, lupus 12%. Drogas inmunosupresoras: metotrexato 45%, corticoides 16%, biológicos anti-TNF 15%, micofenolato 10%, ciclofosfamida 4%. Se diagnosticaron 49 (25%) infecciones: 15 Chagas, 15 anti-HBc positivo aislado, 7 sífilis, 4 HIV, 4 TB latentes, 2 HBV, 1 HCV, 1 estrongiloidiosis. Se indicó profilaxis antimicrobiana en 27 (14%) pacientes. En todos se intervino indicando o completando los esquemas de vacunación. Se detectaron 7 IO. Conclusiones: En el 39% de los pacientes, la evaluación sistematizada arrojó hallazgos que motivaron intervenciones, ya sea terapéuticas o de monitoreo. En el 100% fue necesaria la prescripción de vacunas. Esto pone en evidencia la importancia de evaluar sistemáticamente en consultorios especializados a estos pacientes

Introduction: The extensive use of immunosuppressive drugs resulted in a growing population of patients with defects in the immune system. We opened an infectious diseases practice focused on the attention of these patients. Our objectives were to describe the clinical history and prevalence of latent infections, evaluate the vaccination status, determine the need for antimicrobial prophylaxis and describe the frequency of opportunistic infections (OI). Methods: We performed a descriptive and prospective study of patients seen at a medical practice who were under immunosuppressive therapy (November 2015-January 2017). Demographic and clinical history, as well as risk factors for OI were collected. Tuberculosis (TB) screening, serologies for HIV, hepatitis A, B and C, syphilis, toxoplasmosis, Chagas and Strongyloides spp. screening were performed. Vaccines were indicated according to current recommendations. Follow-up was performed for IO detection. Results: n=197. Mean age: 50.7 years (SD 14). Female 79.7%. Underlying diseases: rheumatoid arthritis 52%, 12% lupus. Immunosuppressive drugs: methotrexate 45%, corticoids 16%, biological anti-TNF agents 15%, mycophenolate 10%, cyclophosphamide 4%. Forty-nine (25%) infections were diagnosed: 15 Chagas, 15 anti-HBc positive isolated, 7 syphilis, 4 HIV, 4 latent TB, 2 HBV, 1 HCV, 1 strongyloidiosis. Antimicrobial prophylaxis was indicated in 27 (14%) patients. In all cases, vaccination schemes were indicated or completed. Seven IO were detected. Conclusions: In 39% of the patients, the systematized evaluation revealed findings that motivated interventions, either therapeutic or monitoring. In 100% the prescription of vaccines was necessary. These findings highlight the importance of a systematically evaluation of these patients in specialized care centers.

Effects of Amerindian Genetic Ancestry on Clinical Variables and Therapy in Patients with Rheumatoid Arthritis.

OBJECTIVE: To define whether Amerindian genetic ancestry correlates with clinical and therapeutic variables in admixed individuals with rheumatoid arthritis (RA) from Latin America. METHODS: Patients with RA (n = 1347) and healthy controls (n = 1012) from Argentina, Mexico, Chile, and Peru were included. Samples were genotyped for the Immunochip v1 using the Illumina platform. Clinical data were obtained through interviews or the clinical history. RESULTS: Percentage of Amerindian ancestry was comparable between cases and controls. Morning stiffness (p < 0.0001, OR 0.05), rheumatoid factor (RF; p < 0.0001, OR 0.22), radiographic changes (p < 0.0001, OR 0.05), and higher number of criteria were associated with lower Amerindian ancestry after Bonferroni correction. Higher Amerindian ancestry correlated only with weight loss (pBonferroni < 0.0001, OR 2.85). Increased Amerindian ancestry correlated with higher doses of azathioprine (p < 0.0001, OR 163.6) and sulfasalazine (p < 0.0001, OR 48.6), and inversely with methotrexate (p = 0.001, OR 0.35), leflunomide (p = 0.001, OR 0.16), and nonsteroidal antiinflammatory drugs (pBonferroni = 0.001, OR 0.37). Only the presence of RF and weight loss were modified after confounders adjustment. CONCLUSION: Amerindian ancestry protects against most major clinical criteria of RA, but regarding the association of RF with increased European ancestry, age, sex, and smoking are modifiers. Ancestry also correlates with the therapeutic profiles.

Guías Argentinas para el diagnóstico, la prevención y el tratamiento de la osteoporosis 2015 / Argentine guidelines for the diagnosis, prevention and treatment of osteoporosis, 2015

La osteoporosis es una enfermedad en constante crecimiento y que afecta a más de 200 millones de personas a nivel mundial. Nuestras recomendaciones son guías para el diagnóstico, la prevención y tratamiento, pero no normas para las decisiones clínicas en casos individuales. El médico debe adaptarlas a situaciones en la práctica clínica cotidiana, incorporando factores personales que trascienden los límites de estas guías y hacen al saber y al arte de la práctica médica. Como todo conocimiento científico, deben ser actualizadas periódicamente a medida que se adquieran nuevas, mejores y más efectivas herramientas diagnósticas y terapéuticas. (AU)

Osteoporosis is an evolving disease which affects over 200 million people worldwide. Our recommendations are guidelines for its diagnosis, prevention and treatment, but they do not constitute standards for clinical decisions in individual cases. The physician must adapt them to individual special situations, incorporating personal factors that transcend the limits of these guidelines and are dependent on the knowledge and art of the practice of Medicine. These guidelines should be reviewed and updated periodically as new, better and more effective diagnostic and therapeutic tools become available. (AU)

Guías Argentinas para el diagnóstico, la prevención y el tratamiento de la osteoporosis 2015 / Argentine guidelines for the diagnosis, prevention and treatment of osteoporosis, 2015

La osteoporosis es una enfermedad en constante crecimiento y que afecta a más de 200 millones de personas en todo el mundo. Nuestras recomendaciones son guías para el diagnóstico, la prevención y tratamiento, pero no normas para las decisiones clínicas en casos individuales. El médico debe adaptarlas a situaciones en la práctica clínica cotidiana, incorporando factores personales que trascienden los límites de estas guías y hacen al saber y al arte de la práctica médica. Como todo conocimiento científico, deben ser actualizadas periódicamente a medida que se adquieran nuevas, mejores y más efectivas herramientas diagnósticas y terapéuticas.

Osteoporosis is an evolving disease which affects over 200 million people worldwide. Our recommendations are guidelines for its diagnosis, prevention and treatment, but they do not constitute standards for clinical decisions in individual cases. The physician must adapt them to individual special situations, incorporating personal factors that transcend the limits of these guidelines and are dependent on the knowledge and art of the practice of Medicine. These guidelines should be reviewed and updated periodically as new, better and more effective diagnostic and therapeutic tools become available.

The Discriminatory Ability of the Fibromyalgia Rapid Screening Tool (FiRST): An International Study in Spain and Four Latin American Countries.

OBJECTIVE: To assess the transcultural equivalency of the Spanish version of the Fibromyalgia Rapid Screening Tool (FiRST) and its discriminatory ability in different Latin American samples. DESIGN: Validation study. SETTING: Departments of Rheumatology in general hospitals and private centers; fibromyalgia unit in a university hospital. SUBJECTS: 350 chronic pain patients from Spain, Argentina, Mexico, Peru, and Ecuador. METHODS: The cultural relevance of the Spanish version of the FiRST was evaluated. The ability of the FiRST as a screening tool for fibromyalgia was assessed by logistic regression analysis. To determine the degree to which potential confounders, such as differences in demographics, pain, affective distress, catastrophizing, and disability, might affect the discriminatory ability, the tool was reassessed by hierarchical multivariate logistic regression. RESULTS: Slightly different versions of the FiRST were recommended for use in each Latin American subsample. The FiRST showed acceptable criterion validity and was able to discriminate between fibromyalgia and non-fibromyalgia patients even after controlling for the effect of potential confounders. However, low specificities were observed in samples from Spain and Mexico. CONCLUSIONS: The Spanish version of the FiRST may be used as a screening tool for fibromyalgia in several Latin American subsamples, even in those patients with high scores on potential confounders. In Spain and Mexico, the low specificity of the FiRST suggests, however, that it would be best used to support a suspected diagnosis of fibromyalgia, rather than to exclude the diagnosis.

Guías para el diagnóstico, la prevención y el tratamiento de la osteoporosis inducida por glucocorticoides en el adulto / Guidelines for the diagnosis, prevention and treatment of glucocorticoid-induced osteoporosis in adults

La osteoporosis inducida por glucocorticoides (OIC) es la causa más común de osteoporosis secundaria. La pérdida ósea se produce en forma temprana, en los primeros meses siguientes a la introducción de los glucocorticoides (GC), dependiendo de la dosis diaria. La patogénesis es multifactorial y el principal efecto deletéreo es la inhibición de la formación ósea. Los GC inducen fracturas por fragilidad ósea, especialmente en la columna vertebral, y esto genera incapacidad funcional. En los últimos años se han publicado algunas guías internacionales elaboradas por consenso para la prevención y el tratamiento de la OIC. La Sociedad Argentina de Osteoporosis designó a un grupo de trabajo para elaborar una guía propia y actualizada para el diagnóstico, la prevención y el tratamiento de la OIC (GE-OIC-SAO). (AU)

Glucocorticoid-induced osteoporosis (GIO) is the most common cause of secondary osteoporosis. It occurs early, with rapid bone loss in the first few weeks after the initiation of the treatment, with a rate that is dependent mainly on the daily dose. While the pathogenesis is multifactorial, the highest inhibitory effect occurs on bone formation. Glucocorticoids induce fragility fractures, especially in spine, generating functional disability. In recent years, there have been some international guidelines developed by consensus for the prevention and treatment of GIO. The Argentinean Osteoporosis Society appointed a working group to prepare a national guide updating the diagnosis, prevention and treatment of GIO. (AU)

The Spanish version of the Fibromyalgia Rapid Screening Tool: translation, validity and reliability.

OBJECTIVE: Despite showing acceptable psychometric properties, the criterion validity of the original Fibromyalgia Rapid Screening Tool (FiRST) has been called into question for including insufficiently challenging comparison groups. Consequently our objective was to validate a Spanish version of the FiRST including pain disorders more analogous to fibromyalgia. METHODS: The FiRST was translated following international standards. Internal consistency and temporal stability were assessed. The ability of the FiRST global score as a screening tool for fibromyalgia (criterion validity) was assessed by logistic regression analysis. To determine the degree to which potential confounders might affect the criterion validity of the FiRST (divergent validity), it was reassessed by hierarchical multivariate logistic regression, entering demographics in a first step, followed by pain, anxiety and depression, catastrophizing, disability and the FiRST global score in a last step. RESULTS: The final sample comprised 257 patients (67% cases of fibromyalgia). The Spanish version of the FiRST showed acceptable internal consistency, reliability and criterion validity. The FiRST was able to discriminate between fibromyalgia and non-fibromyalgia patients even after controlling for the effect of potential confounders. However, both criterion and divergent validity were challenged by a moderate specificity. CONCLUSION: The Spanish version of the FiRST may be used as a screening tool for fibromyalgia even in those patients whose cognitive style is characterized by catastrophizing about pain and high levels of functional disability, anxiety and depression. The clinical consequences of the moderate specificity shown by this Spanish version of the FiRST are discussed.

Guías 2012 para el diagnóstico, la prevención y el tratamiento de la osteoporosis / [Guidelines for the diagnosis, prevention and treatment of osteoporosis, 2012].

Osteoporosis is a constantly growing disease which affects over 200 million people worldwide. The present recommendations are guidelines for its diagnosis, prevention and treatment, but they do not constitute standards for clinical decisions in individual patients. The physician must adapt them to individual patients and special situations, incorporating personal factors that transcend the limits of these guidelines and are dependent on the knowledge and art of the physician. These guidelines should be reviewed and updated periodically as new, better and more effective diagnostic and therapeutic tools become available.

FRAX TM: un nuevo instrumento para calcular el riesgo absoluto de fracturas a 10 años / FRAX TM: A new instrument for calculating 10-year absolute fracture risk

La eficacia de nuevos agentes farmacológicos para la prevención de fracturas osteoporóticas y la decisión de intervención con la misma finalidad en la práctica clínica han sido guiadas por la evaluación de la densitometría ósea (DMO). Sin embargo, reconociendo la naturaleza multifactorial de ese desenlace, recientemente se dio a conocer el calculador Fracture Risk Assessment Tool (FRAX™) que persiguiendo los mismos objetivos de modelos previos, integra y combina varios de esos factores ponderadamente para estimar el riesgo absoluto de fractura de cadera o un combinado de fracturas osteoporóticas para los siguientes 10 años. El mismo sería ajustable a cualquier país incorporando al modelo la incidencia de fractura de cadera y las expectativas de vida edad- y sexo-específicas para la población a que pertenece el individuo. Este instrumento es presentado como un nuevo paradigma para ayudar en la toma de decisiones terapéuticas, especialmente farmacológicas. En la presente revisión se discuten algunas de sus características, como ser: la pretendida aplicabilidad a poblaciones de distintos países, la conveniencia de utilizar el riesgo absoluto a 10 años para todo el espectro etario de interés y si la eficacia de los tratamientos farmacológicos para la prevención de fracturas óseas en pacientes osteoporóticos podrá comprobarse también en pacientes seleccionados para tratamiento en base a este modelo. Finalmente, se llama la atención sobre el hecho de que aún no están claramente determinados los umbrales de riesgo orientadores para la toma de decisiones, los que obviamente tendrán un relevante impacto en el número de pacientes pasibles de tratamiento.

The efficacy of new pharmacological agents for the prevention of osteoporotic fractures and the clinical decision to intervene with that purpose in daily medical practice have been guided by the evaluation of bone mineral density (BMD). However, given the multifactorial nature of the proposed endpoint, a new calculator has been proposed: Fracture Risk Assessment Tool FRAX TM, which follows the same objectives of previous models, but integrates and combines several of those factors according to their relative weight. It can estimate absolute risk of hip fracture (or a combination of osteoporotic fractures) for the following 10 years. The calculator could be adapted for use in any country by the incorporation of hip fracture incidence and age- and sex-adjusted life expectancy in the same country. This instrument has been presented as a new paradigm to assist in clinical and therapeutic decision-making. In the present review some of its characteristics are discussed, such as: the purported applicability to different populations, the convenience of using 10-year absolute fracture risk for the whole age range under consideration, and whether the efficacy of pharmacological treatment for the prevention of bone fractures in osteoporotic patients can be expected to be equally effective among patients selected for treatment on the basis of this model. Finally, we would like to call attention to the fact that risk thresholds for intervention are not yet clearly defined; those thresholds can obviously be expected to have a profound impact on the number of patients amenable to treatment.

Sialoquímica en el síndrome de SjÖgren : nuevo índice para el diagnóstico / Sialochemistry in the SjÖgren's syndrome : new index for the diagnosis

El síndrome de SjÖgren (SS) está caracterizado por una inflamación crónica de las glándulas lagrimales y salivales con infiltración linfocitaria, provocando sequedad ocular y bucal. Además de la disminución del flujo salival se han observado alteraciones en diversos parámetros bioquímicos de la saliva. El objetivo del presente trabajo consistió en evaluar la sialometría basal (saliva total) y estimulada (saliva parotídea), y cuantificar diversos parámetros sialoquímicos en 62 pacientes con SS y 28 pacientes controles, con el fin de clarificar su aptitud diagnóstica. La sialometría basal tomada en forma temporal (7 meses) en algunos pacientes, demostró ser efectiva sólo para la evaluación de la xerostomía y evidenció la existencia de picos esporádicos de secreción. La saliva parotídea estimulada presentó una disminución del flujo (0.89ñ0.09 vs. 0.48ñ0.06 mL/min.), amilasa (602.40ñ76.70 vs. 436.10ñ53.80 AU), y proteínas totales (152.04ñ9.80 vs. 116.50ñ8.30 mg/dL), y un aumento de las concentraciones de Na+(22.75ñ3.52 vs. 43.46ñ3.22 mEq/L), e IgG (0.40ñ0.13 vs. 3.91ñ1.01 mg/dL) y/o IgM (0.40ñ0.12 vs. 1.54ñ0.31 mg/dL). No en todos los pacientes se registró un aumento simultáneo de IgG e IgM, pero siempre apareció elevada una de ellas. Como el índice salival que resulta del producto de las concentraciones de IgG por IgM es siempre mayor a 0.25 en los pacientes con SS, y menor o igual a este valor en el grupo control, creemos que, sumado al carácter no invasivo del método de extracción, sería una herramienta complementaria de gran utilidad en el diagnóstico de este síndrome.

Síndrome de Lesch-Nyhan incompleto : comunicación del primer caso argentino / Incomplete Lesch-Nyhan syndrome : communication of first case argentinian

El síndrome de Lesch-Nyhan es una infrecuente gota hereditaria vinculada al déficit virtualmente completo de la enzima hipoxantina guanina fosforribosil transferasa (HGFT) existiendo ocasionalmente déficit parciales, que se diferencian de las formas completas por presentar manifestaciones neuropsiquiátricas menores. Es nuestro objetivo presentar al que en nuestro conocimiento es el primer paciente argentino portador del síndrome de Lesh-Nyhan incompleto o de Kelley-Seegmiller. Paciente varón de 38 años con historia familiar de gota e insuficiencia renal que desarrolla una severa artritis gotosa tofácea de rápida evolución y déficit intelectual. Los análisis de laboratorio de rutina mostraron una marcada hiperuricemia y excesiva excreción de ácido úrico con una función renal conservada. La determinación de la actividad enzimática de la HGFT se halló francamente disminuida.