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Resumen La alcaptonuria es una enfermedad rara autosomica recesiva del metabolismo de la tirosina que provoca el acumulo de acido homogentisico en determinados tejidos del cuerpo humano, como el tejido cartilaginoso, causando calcificacion, degeneracion y fibrosis. Las manifestaciones cardiovasculares son poco frecuentes, habiendo pocos casos descritos en la literatura en los que se produce afectacion valvular cardiaca. Presentamos el caso de una mujer de 76 anos con historia de alcaptonuria que fue diagnosticada de doble lesion aortica severa e insuficiencia mitral moderada, requiriendo intervencion quirurgica para recambio valvular aortico y mitral. Revisamos la etiologia, la patogenesis, las manifestaciones clinicas, el diagnostico y el tratamiento de esta patologia.

Background Bone and mineral abnormalities, and cardiovascular calcification are associated with increased cardiovascular mortality in patients with chronic kidney disease (CKD). Recent studies have implicated Wnt signaling pathway in the pathogenesis of bone metabolism and vascular calcification. Sclerostin is a soluble inhibitor of Wnt signaling pathway and has been shown to be associated with decreased bone turnover and vascular calcification in CKD patients. Objectives The aim was to investigate whether the circulating levels of sclerostin are associated with all-cause mortality in prevalent hemodialysis patients. Methods Data are prospectively collected for 24 months for survival analysis in 350 prevalent hemodialysis patients. At baseline, serum sclerostin levels were measured and arteriovenous fistula calcification was detected by using a 64-detector computerized tomographic scanner. Results During the follow-up, 84 (24%) patients died. Patients who died had higher serum sclerostin levels. Kaplan–Meier curve revealed that patients with increasing tertiles of serum sclerostin levels at baseline, had a worse survival. In the multivariate Cox regression analysis age, albumin, and presence of arteriovenous fistula calcification, but not sclerostin levels, were found to be independent predictors of survival in maintenance hemodialysis patients. Conclusion Further clinical studies with longer follow-up are needed to clarify the impact of serum sclerostin levels on morbidity and mortality of maintenance hemodialysis patients. Clinical trial registration number The study was performed as a post hoc survival analysis of the patients involved in a single-center prospective trial investigating the association between serum sclerostin levels and arteriovenous fistula calcification and patency [Balci M, et al. Herz 2015;40:289–97] with a Clinicaltrials.gov number: NCT01382966 .

ResumenIntroducciónEl dolor y la contractura muscular cervical son motivos de consulta usuales en los servicios de urgencia pediátrica. El primer enfrentamiento es la anamnesis y examen físico minucioso. Ante la sospecha de etiología musculoesquelética se debe solicitar radiografía de columna cervical. El hallazgo de calcificación de los discos intervertebrales, en ausencia de otras lesiones radiológicas, nos debe hacer sospechar de una discopatía calcificante de la infancia.ObjetivoPresentar un caso de discopatía calcificante de la infancia, enfermedad infrecuente, que se debe tener en cuenta como diagnóstico diferencial de tortícolis y dolor cervical en la infancia.Caso clínicoPaciente varón de 7 años, sin antecedentes mórbidos ni historia de traumatismo o deportes bruscos. Consultó por historia de dolor y contractura cervical de 6 días de evolución. La velocidad de eritrosedimentación y proteína C reactiva estaban discretamente elevadas. La radiografía de columna cervical y la tomografía computarizada mostraron calcificación discal C5-C6 y protrusión discal anterior. Se hospitalizó para estudio y tratamiento del dolor, con buena respuesta clínica, continuando el manejo ambulatorio con antiinflamatorios no esteroidales y collar blando. Evolucionó con resolución de la sintomatología clínica y de las calcificaciones a 6 meses de seguimiento.ConclusionesEl hallazgo de calcificaciones de los discos intervertebrales es una infrecuente causa de tortícolis adquirida, de evolución benigna y autolimitada. Se recomienda manejo conservador por tiempo acotado y seguimiento clínico e imagenológico.AbstractIntroductionPain and cervical muscle spasm are common reasons why parents bring children to the pediatric emergency department. The first steps are the gathering of medical history of the patient and a physical examination. If musculoskeletal damage is suspected, cervical spine x-rays should be obtained. An intervertebral disc calcification finding, in the absence of other radiological lesions should suggest pediatric intervertebral disc calcification.ObjectiveTo present a case of intervertebral disc calcification, a rare condition that must be considered in the differential diagnosis of torticollis and neck pain in childhood.Case reportA seven-year-old male patient without morbid history and no history of trauma or rough sport practice. He consulted the emergency room for pain and cervical contracture for the last six days. C reactive protein and red cell sedimentatio rates were slightly elevated. Imaging studies showed calcification of the C5-C6 intrvertebral disc and anterior disc protrusion. The patient was hospitalized for evaluation and pain management, with good clinical response and continue afterwards with non-steroidal anti-inflammatory drugs and a soft collar. At the 6-month-follow up, the patient had resolved symptoms and calcifications.ConclusionsPediatric intervertebral disc calcification is a rare cause of acquired torticollis, with a benign and self-limited outcome. Conservative management, as well as clinical and imaging follow-up is recommended.

Fil: Dube, Prabhatchandra R. University of Toledo. College of Medicine and Life Sciences. Center for Hypertension and Personalized Medicine. Department of Physiology and Pharmacology; Estados Unidos Fil: Chikkamenahalli, Lakshmikanth L. University of Toledo. College of Medicine and Life Sciences. Center for Hypertension and Personalized Medicine. Department of Physiology and Pharmacology; Estados Unidos Fil: Birnbaumer, Lutz. Pontificia Universidad Católica Argentina. Facultad de Ciencias Médicas. Instituto de Investigaciones Biomédicas; Argentina Fil: Birnbaumer, Lutz. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Birnbaumer, Lutz. National Institute of Environmental Health Sciences. Research Triangle Park. Neurobiology Laboratory; Estados Unidos Fil: Vazquez, Guillermo. University of Toledo. College of Medicine and Life Sciences. Center for Hypertension and Personalized Medicine. Department of Physiology and Pharmacology; Estados Unidos Abstract: Background and aims—Recent in vitro studies have showed that in macrophages deletion of the non-selective Ca2+-permeable channel TRPC3 impairs expression of the osteogenic protein BMP-2. The pathophysiological relevance of this effect in atherosclerotic plaque calcification remains to be determined. Methods—We used Ldlr −/− mice with macrophage-specific loss of TRPC3 (MacTrpc3 −/−/Ldlr −/−) to examine the effect of macrophage Trpc3 on plaque calcification and osteogenic features in advanced atherosclerosis. Results—After 25 weeks on high fat diet, aortic root plaques in MacTrpc3 −/−/Ldlr −/− mice showed reduced size, lipid and macrophage content compared to controls. Plaque calcification was decreased in MacTrpc3 −/−/Ldlr −/− mice, and this was accompanied by marked reduction in BMP-2, Runx-2 and phospho-SMAD1/5 contents within macrophage-rich areas. Expression of Bmp-2 and Runx-2 was also reduced in bone marrow-derived macrophages from MacTrpc3 −/−/ Ldlr −/− mice. Conclusions—These findings show that, in advanced atherosclerosis, selective deletion of TRPC3 in macrophages favors plaque regression and impairs the activity of a novel macrophageassociated, BMP-2-dependent mechanism of calcification.

Fil: Dube, Prabhatchandra R. University of Toledo. College of Medicine and Life Sciences. Center for Hypertension and Personalized Medicine. Department of Physiology and Pharmacology; Estados Unidos Fil: Birnbaumer, Lutz. National Institute of Environmental Health Sciences. Neurobiology Laboratory; Estados Unidos Fil: Birnbaumer, Lutz. Pontificia Universidad Católica Argentina. Facultad de Ciencias Médicas. Instituto de Investigaciones Biomédicas; Argentina Fil: Birnbaumer, Lutz. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Vazquez, Guillermo. University of Toledo. College of Medicine and Life Sciences. Center for Hypertension and Personalized Medicine. Department of Physiology and Pharmacology; Estados Unidos Abstract: Mechanisms mediating vascular calcification recapitulate osteogenic processes encompassing bone formation and imply participation of bone related proteins such as bone morphogenetic protein-2 (BMP-2). Macrophages are amongst the cells that contribute to vascular ossification by releasing cytokines that induce an osteogenic program in vascular smooth muscle cells, and also by becoming themselves osteoclast-like cells. In inflammatory vascular disease, the macrophage population in the vascular wall is diverse, with the M1 or inflammatory, and the M2 or anti-inflammatory macrophage types being dominant. Yet, the osteogenic potential of M1 and M2 macrophages remains unknown. Prompted by recent studies from our laboratory showing that in macrophages the Transient Receptor Potential Canonical 3 (TRPC3) channel contributes to endoplasmic reticulum (ER) stress-induced apoptosis in M1, but not in M2 macrophages, and given the strong relationship between ER stress and vascular calcification, we wished to examine whether TRPC3 would play a role in the osteogenic signaling of polarized macrophages. The findings reported here indicate that a constitutive BMP-2-dependent signaling operates in M1 macrophages, which is not affected by deletion of Trpc3 and is not subject to regulation by ER stress. Our studies suggest operation of an auto/paracrine mechanism by which BMP-2 secreted by M1 macrophages maintains constitutive activation of a BMP-2 receptor/SMAD1/5 signaling axis.

"EXTRACORPOREAL WAVE LITHOTRIPSY ASSISTED DRAWING OF A CALCIFIED URETERAL STENT LEFT OUT FOR TWO YEARS" A 45 year old man with a 2 year forgotten left double-pigtail ureteric stent was referred to our hospital. Because of distal calcifications, the stent could not be removed by means of a cystoscopy. So, extracorporeal wave lithotripsies were performed and then the stent were easily removed in two fragments by cystoscopy and ureteroscopy.

Ocean acidification is impacting the calcification of corals, but the mechanisms of calcification are still unclear. To explore the relationship between calcification and pH, small pieces of coral were suspended from a torsion microbalance in gently stirred, temperature controlled, seawater in a closed chamber. Net calcification rate and pH were continuously monitored while light, temperature or pH could be manipulated. The coral pieces were from the edges of thin plates of Agaricia agaricites and were studied alive and freshly collected. Unexpectedly, when calcification was taking place (n=9, 0.082 mg.hr-1.cm-2), as determined by weight increase, the pH of the surrounding seawater medium changed little (n=10, -0.0047 pH units.hr-1.cm-2). When calcification was not taking place the decrease of seawater pH was an order of magnitude higher, -0.013 pH units.hr-1.cm-2. This is the opposite of what is expected when calcium carbonate (CaCO3) forms. Similarly, fresh skeleton initially showed no change of pH in the seawater medium although the rates of weight gain were high (upto 1.0 mg hr-1.cm-2). After 10 hours, as the rate of deposition decreased following a generalized Michaelis-Menten growth curve, the pH began to decrease dramatically indicating an increase of CO2 in the seawater. These unexpected results can be explained if unstable calcium bicarbonate (Ca(HCO³)2) is formed in the organic matrix/carbonic anhydrase surface and slowly transforms later to CaCO3. Pieces of living coral monitored in the chamber for 30 hours gained weight during the day and loss it at night. The loss would be consistent with the transformation of Ca(HCO³)2 to CaCO3 with the release of CO2. The mean calcification rate of live coral was greater (n=8, p=0.0027) in high light (120 μmol.s-1.m-2) at 0.098 mg.hr-1.cm-2, compared to 0.063 mg.hr-1.cm-2 in low light (12 μmol.s-1.m-2). However, at the same time the mean rate of pH change was -0.0076 under low light compared to -0.0030 under high light (n=8, p=0.0001). The difference can be explained by CO2 being used for photosynthesis by zooxanthellae. The deposition rate of live coral was not affected by the addition of phosphate but the rate of weight gain by the freshly collected skeleton was strongly enhanced by phosphate. These results indicate that care should be applied in the application of the alkalinity anomaly technique for the measurement of calcification in corals. La acidificación del océano está impactando la calcificación de los corales, pero los mecanismos de la calcificación son aún inciertos. Para explorar la relación entre la calcificación y pH, pequeños trozos de coral fueron suspendidos en una microbalanza de torsión en agitado suave, temperatura controlada, y agua de mar en una cámara cerrada. La tasa de calcificación neta y el pH se monitorearon continuamente mientras que la luz, temperatura o pH podían ser manipulados. Las piezas de coral eran de los bordes de placas finas de Agaricia agaricites y se estudiaron vivos y recién colectados. Inesperadamente, cuando la calcificación (n= 9, 0.082 mg.hr-1.cm-2) se estaba dando, según lo determinado por el aumento de peso, el pH del agua de mar circundante cambió poco (n = 10,-0.0047 pH units.hr-1.cm-2). Durante los períodos cuando la calcificación no se estaba dando la disminución del pH del agua de mar era un orden de magnitud mayor, -0.013 pH units.hr-1.cm-2. Esto es exactamente lo contrario de lo que se espera cuando se forma carbonato de calcio (CaCO3). Del mismo modo un esqueleto recién colectado al inicio no mostró cambios de pH en el agua de mar aunque eran muy altas las tasas de ganancia de peso (hasta 1.0 mg hr-1.cm-2). Después de 10 horas, la tasa de deposición disminuyó hasta seguir una curva de crecimiento generalizada de Michaelis-Menten, el pH comenzó a disminuir drásticamente, lo que indica un aumento de CO2 en el agua de mar. Estos resultados inesperados pueden explicarse si el bicarbonato de calcio inestable (Ca(HCO³)2) se forma en la superficie de la anhidrasa carbónica/matriz orgánica y lentamente se transforma más tarde a CaCO3. Piezas de coral vivo vigiladas en la cámara durante 30 horas demostraron un patrón de ganancia de peso durante el día y de pérdida en la noche. La pérdida sería coherente con la transformación de la Ca (HCO3)2 a CaCO3 con el lanzamiento de CO2. La tasa de calcificación media de coral vivo fue mayor (n= 8, p= 0.0027) en luz alta (120 μmol.s-1.m-2) a 0.098 mg.hr-1.cm-2, en comparación con 0.063 mg.hr-1.cm-2 en condiciones de poca luz (12 μmol.s-1.m-2). Sin embargo, al mismo tiempo la tasa media de cambio de pH fue de -0.0076 bajo luz baja en comparación con -0.0030 bajo luz alta (n= 8, p= 0,0001). La diferencia puede explicarse porque el CO2 está siendo utilizado para la fotosíntesis por zooxantelas. La tasa de deposición de coral vivo no fue afectada por la adición de fosfato pero la tasa de ganancia de peso de los esqueletos recién colectados era fuertemente reforzada por fosfato. Estos resultados indican que la atención debe aplicarse en la aplicación de la técnica de alcalinidad anormal para la medición de la calcificación de los corales.

OBJETIVOS Las indicaciones mas habituales para la colocacion de un stent ureteral son nefrolitiasis obstructivas, cirugia nefroureteral, oncologia urologica, endourologia, compresion ureteral extrinseca y como apoyo previo al tratamiento con LEOC. METODOS Presentamos un caso de un varon de 77 anos de edad con cateter ureteral DJ colocado durante 8 meses y con antecedentes personales de nefrolitiasis que presenta calcificacion de 60 mm x 30 mm de extremo distal del mismo. RESULTADOS Se realizo cistolitotomia abierta y extraccion del stent que solvento el cuadro. La composicion del calculo fue fosfato amonico magnesico con trazas de urato amonico y fosfato calcico. CONCLUSIONES En muchas ocasiones la persistencia prolongada de dicho stent, junto con antecedentes de nefrolitiasis e infeccion urinaria predispone a la calcificacion y encrustamiento de dicho cateter ureteral, siendo necesarias tecnicas de endourologia, litotricia extracorporea o cirugia abierta para la resolucion de dichos cuadros.

Se presenta un caso acontecido en nuestro centro correspondiente a un liposarcoma retroperitoneal pleomórfico calcificado en forma de cáscara. Se describe la forma de presentación, los síntomas por los que consulta el paciente, los métodos diagnósticos utilizados y la alternativa terapéutica tomada ante este caso. Se discuten los posibles diagnósticos diferenciales a los que obliga este caso clínico.