Miocardiopatía en pacientes con epidermólisis ampollosa hereditaria / Cardiomyopathy in Patients With Hereditary Bullous Epidermolysis

Introducción y objetivos: En las últimas décadas se ha descrito la asociación entre epidermólisis ampollosa (EA) y miocardiopatía dilatada (MD). Generalmente esta última enfermedad se detecta en fases avanzadas, implicando un peor pronóstico. Nuestro objetivo consistió en determinar la prevalencia de MD en los pacientes con EA vistos en el Hospital San Joan de Déu (Barcelona) desde mayo de 1986 a abril de 2015. Métodos: Estudio descriptivo transversal mediante revisión de las historias clínicas con atención al tipo y subtipos mayores de EA y la existencia o no de MD. Resultados: Se recogieron 57 pacientes con diagnóstico de EA. De ellos 19 presentaban EA simple, 10 EA juntural, 27 EA distrófica (14 EA distrófica dominante y 13 EA distrófica recesiva) y existió un caso de síndrome de Kindler. Solo 2 de los pacientes con EA distrófica recesiva presentaron MD. En 23 de los pacientes con EA existieron factores que podrían tener una relación causal con el potencial desarrollo de MD. Conclusión: La MD puede ser una complicación en los pacientes con EA, mayoritariamente del subtipo de EA distrófica recesiva, por lo que deben hacerse controles periódicos para su temprano diagnóstico y tratamiento (AU)

Introduction and objective: In recent decades, an association has been reported between epidermolysis bullosa (EB) and dilated cardiomyopathy (DC). DC is typically in an advanced phase when detected, leading to a poorer prognosis. Our objective was to determine the prevalence of DC in patients with EB seen in Hospital San Joan de Déu in Barcelona, Spain, between May 1986 and April 2015. Methods: This was a descriptive, cross-sectional chart-review study in which we recorded the type and main subtypes of EB and the presence or absence of DC. Results: Fifty-seven patients with EB were found, 19 with EB simplex, 10 with junctional EB, 27 with dystrophic EB (14 dominant dystrophic and 13 recessive dystrophic), and just 1 with Kindler syndrome. DC was detected in only 2 patients with recessive dystrophic EB. Twenty-three patients had presented factors that could have had a causal relationship with the potential onset of DC. Conclusion: DC is a possible complication of EB, particularly in recessive dystrophic EB. Periodic follow-up should be performed to make an early diagnosis and start treatment (AU)

Extra central nervous system metastases from glioblastoma: a new possible trigger event?

Extra-cranial metastases of glioblastoma (GBM) represent a rare event, and the biological-genetic mechanisms involved in the pathogenesis have not yet been determined. We report the case of a young patient with multiple visceral and osseous metastases occurred after 4 years after first diagnosis of GBM. The strangeness as well as the rarity of this event does not allow to identify an effective treatment for GBM metastases, making the management of this ominous tumor an even greater challenge.

Cardiomyopathy in Patients With Hereditary Bullous Epidermolysis. / Miocardiopatía en pacientes con epidermólisis ampollosa hereditaria.

INTRODUCTION AND OBJECTIVE: In recent decades, an association has been reported between epidermolysis bullosa (EB) and dilated cardiomyopathy (DC). DC is typically in an advanced phase when detected, leading to a poorer prognosis. Our objective was to determine the prevalence of DC in patients with EB seen in Hospital San Joan de Déu in Barcelona, Spain, between May 1986 and April 2015. METHODS: This was a descriptive, cross-sectional chart-review study in which we recorded the type and main subtypes of EB and the presence or absence of DC. RESULTS: Fifty-seven patients with EB were found, 19 with EB simplex, 10 with junctional EB, 27 with dystrophic EB (14 dominant dystrophic and 13 recessive dystrophic), and just 1 with Kindler syndrome. DC was detected in only 2 patients with recessive dystrophic EB. Twenty-three patients had presented factors that could have had a causal relationship with the potential onset of DC. CONCLUSION: DC is a possible complication of EB, particularly in recessive dystrophic EB. Periodic follow-up should be performed to make an early diagnosis and start treatment.

Ocean warming and acidification synergistically increase coral mortality.

Organisms that accumulate calcium carbonate structures are particularly vulnerable to ocean warming (OW) and ocean acidification (OA), potentially reducing the socioeconomic benefits of ecosystems reliant on these taxa. Since rising atmospheric CO2 is responsible for global warming and increasing ocean acidity, to correctly predict how OW and OA will affect marine organisms, their possible interactive effects must be assessed. Here we investigate, in the field, the combined temperature (range: 16-26 °C) and acidification (range: pHTS 8.1-7.4) effects on mortality and growth of Mediterranean coral species transplanted, in different seasonal periods, along a natural pH gradient generated by a CO2 vent. We show a synergistic adverse effect on mortality rates (up to 60%), for solitary and colonial, symbiotic and asymbiotic corals, suggesting that high seawater temperatures may have increased their metabolic rates which, in conjunction with decreasing pH, could have led to rapid deterioration of cellular processes and performance. The net calcification rate of the symbiotic species was not affected by decreasing pH, regardless of temperature, while in the two asymbiotic species it was negatively affected by increasing acidification and temperature, suggesting that symbiotic corals may be more tolerant to increasing warming and acidifying conditions compared to asymbiotic ones.

Intramedullary cavernoma: A surgical resection technique.

Intramedullary spinal cavernoma is a rare vascular disease constituting 5-12% of all spinal vascular tumors. The clinical course is usually characterized either by an acute neurological deterioration, recurrent episodes of neurological deficits or by a slowly progressive neurological decline. Microsurgical removal is recommended when the symptoms become clinically relevant and the lesion appears accessible. In this article, we present a surgical technique to completely resect an intramedullary cavernoma with the aid of intraoperative electrophysiological monitoring and intraoperative real-time ultrasound guidance. A brief description of current management of this pathology is also presented.

Fístula aortocavitaria en endocarditis sobre válvula nativa / Cardiac tamponade following thrombolysis with low dose rt-PA

No disponible

Preoperative magnetic resonance and intraoperative ultrasound fusion imaging for real-time neuronavigation in brain tumor surgery.

PURPOSE: Brain shift and tissue deformation during surgery for intracranial lesions are the main actual limitations of neuro-navigation (NN), which currently relies mainly on preoperative imaging. Ultrasound (US), being a real-time imaging modality, is becoming progressively more widespread during neurosurgical procedures, but most neurosurgeons, trained on axial computed tomography (CT) and magnetic resonance imaging (MRI) slices, lack specific US training and have difficulties recognizing anatomic structures with the same confidence as in preoperative imaging. Therefore real-time intraoperative fusion imaging (FI) between preoperative imaging and intraoperative ultrasound (ioUS) for virtual navigation (VN) is highly desirable. We describe our procedure for real-time navigation during surgery for different cerebral lesions. MATERIALS AND METHODS: We performed fusion imaging with virtual navigation for patients undergoing surgery for brain lesion removal using an ultrasound-based real-time neuro-navigation system that fuses intraoperative cerebral ultrasound with preoperative MRI and simultaneously displays an MRI slice coplanar to an ioUS image. RESULTS: 58 patients underwent surgery at our institution for intracranial lesion removal with image guidance using a US system equipped with fusion imaging for neuro-navigation. In all cases the initial (external) registration error obtained by the corresponding anatomical landmark procedure was below 2 mm and the craniotomy was correctly placed. The transdural window gave satisfactory US image quality and the lesion was always detectable and measurable on both axes. Brain shift/deformation correction has been successfully employed in 42 cases to restore the co-registration during surgery. The accuracy of ioUS/MRI fusion/overlapping was confirmed intraoperatively under direct visualization of anatomic landmarks and the error was < 3 mm in all cases (100 %). CONCLUSION: Neuro-navigation using intraoperative US integrated with preoperative MRI is reliable, accurate and user-friendly. Moreover, the adjustments are very helpful in correcting brain shift and tissue distortion. This integrated system allows true real-time feedback during surgery and is less expensive and time-consuming than other intraoperative imaging techniques, offering high precision and orientation.

Miocardiopatía no compactada: características clínicas, evolutivas y pronósticas en edad pediátrica. Resultados de un estudio multicéntrico / Non-compacted cardiomyopathy: clinical characteristics, evolution and prognostic data in childhood. Results of a multicentre study

Introducción y objetivos: La miocardiopatía no compactada es una enfermedad congénita infrecuente pero su diagnóstico se está incrementando últimamente coincidiendo con un mejor conocimiento de la entidad. Pacientes y métodos: Estudio multicéntrico que incluye pacientes pediátricos diagnosticados de miocardiopatía no compactada según los criterios ecocardiográficos de Chin y Jenni. Resultados: Se incluyó a un total de 29 pacientes, 15 niñas y 14 niños, con una edad mediana al diagnóstico de 5,6 años (0-17). Dieciséis pacientes (55%) tienen una lesión aislada, 8 (27,5%) comunicación interventricular asociada (uno de ellos con coartación de aorta), 3 (10%) error innato del metabolismo, 1 (3,5%) artritis idiopática juvenil y 1 otros. La localización de las trabéculas ha sido predominantemente en el ápex, afectando también en 11 casos (40%) la pared libre del ventrículo izquierdo y en 2 (7%) el ventrículo derecho. La evolución ha sido buena en 12 pacientes (41%), insuficiencia cardiaca congestiva 12 (41%), arritmias ventriculares precisando implante de desfibrilador automático 2 (7%), accidente vascular cerebral 1 (3,5%) y fallecimiento 2 (7%), ambos menores de 6 meses de vida (p<0,05). El tiempo mediano de seguimiento ha sido de 12 meses (2 meses a 8 años). El tratamiento se basa en combinación farmacológica y un paciente está en lista de trasplante cardíaco. Conclusiones: Parece existir una relación entre el inicio precoz de la sintomatología y un peor pronóstico. Se describe una gran heterogeneidad clínica, evolutiva y pronóstica(AU)

Introduction: Non-compaction of the ventricular myocardium (NCVM) is a rare congenital heart disease. Heightened awareness has resulted in increased detection of the morphological features of NCVM in routine clinical practice. Patients and methods: Multicentre study including paediatric patients affected by NCVM according to the echocardiographic criteria of Chin and Jenni. Results: A total of 29 patients were included, 15 female and 14 male, the median age at diagnosis was 5 years and 7 months (birth to 17 years). Sixteen patients (55%) presented as an isolated lesion, 8 (27.5%) had a ventricular septal defect, one of them associated with aortic coarctation, 3 (10%) had an inborn error of metabolism, 1 (3.5%) had Juvenile Idiopathic Arthritis and 1 (3.5%) has a syndrome being studied. The location of the trabeculae has been predominantly at the apex, but also affected the left ventricle free wall in 11 patients (40%) and right ventricle in 2 (7%). No complications were present in 12 patients (41%), with cardiac failure in 12 patients (41%), an implantable cardioverter defibrillator was placed for ventricular arrhythmias in 2 patients (7%), stroke, 1 patient (3,5%) and death, 2 patients (7%), both of them less than 6 months of age (P<0.05). Median follow up was 12 months (2 months to 8 years). Current treatment includes carvedilol, ACEI‘s and ASA, and one patient is waiting for a cardiac transplantation. Conclusions: Early onset of symptoms is associated with a poor prognosis. Clinical and prognostic heterogeneity is described(AU)

[Non-compacted cardiomyopathy: clinical characteristics, evolution and prognostic data in childhood. Results of a multicenter study]. / Miocardiopatía no compactada: características clínicas, evolutivas y pronósticas en edad pediátrica. Resultados de un estudio multicéntrico.

INTRODUCTION: Non-compaction of the ventricular myocardium (NCVM) is a rare congenital heart disease. Heightened awareness has resulted in increased detection of the morphological features of NCVM in routine clinical practice. PATIENTS AND METHODS: Multicentre study including paediatric patients affected by NCVM according to the echocardiographic criteria of Chin and Jenni. RESULTS: A total of 29 patients were included, 15 female and 14 male, the median age at diagnosis was 5 years and 7 months (birth to 17 years). Sixteen patients (55%) presented as an isolated lesion, 8 (27.5%) had a ventricular septal defect, one of them associated with aortic coarctation, 3 (10%) had an inborn error of metabolism, 1 (3.5%) had Juvenile Idiopathic Arthritis and 1 (3.5%) has a syndrome being studied. The location of the trabeculae has been predominantly at the apex, but also affected the left ventricle free wall in 11 patients (40%) and right ventricle in 2 (7%). No complications were present in 12 patients (41%), with cardiac failure in 12 patients (41%), an implantable cardioverter defibrillator was placed for ventricular arrhythmias in 2 patients (7%), stroke, 1 patient (3,5%) and death, 2 patients (7%), both of them less than 6 months of age (P<.05). Median follow up was 12 months (2 months to 8 years). Current treatment includes carvedilol, ACEI's and ASA, and one patient is waiting for a cardiac transplantation. CONCLUSIONS: Early onset of symptoms is associated with a poor prognosis. Clinical and prognostic heterogeneity is described.

Trigonal cavernous angioma presenting with selective ventricular exclusion.

We present a case of a patient with an intraventricular cavernous angioma originating from the splenium of the corpus callosum presenting with intracranial hypertension syndrome. In our case the growth of the lesion from the corpus callosum toward the ventricular spaces determined the direct exclusion of the occipital and temporal horn of the left lateral ventricle.

Effects of six carbohydrate sources on dog diet digestibility and post-prandial glucose and insulin response.

The effects of six extruded diets with different starch sources (cassava flour, brewer's rice, corn, sorghum, peas or lentils) on dog total tract apparent digestibility and glycemic and insulinemic response were investigated. The experiment was carried out on thirty-six dogs with six dogs per diet in a completely randomized design. The diets containing brewer's rice and cassava flour presented the greatest digestibility of dry matter, organic matter and gross energy (p < 0.05), followed by corn and sorghum; pea and lentil diets had the lowest. Starch digestibility was greater than 98% in all diets and was greater for brewer's rice and cassava flour than for lentils and peas diets (p < 0.05). Dogs' immediate post-prandial glucose and insulin responses (AUC < or = 30 min) were greater for brewer's rice, corn, and cassava flour diets (p < 0.05), and later meal responses (AUC > or = 30 min) were greater for sorghum, lentil and pea diets (p < 0.05). Variations in diet digestibility and post-prandial response can be explained by differences in chemical composition of each starch source including fibre content and starch granule structure. The nutritional particularities of each starch ingredient can be explored through diet formulations designed to modulate glycemic response. However, more studies are required to support these.

Protein requirements for Blue-fronted Amazon (Amazona aestiva) growth.

The objective of this study was to evaluate the protein requirements for hand-rearing Blue-fronted Amazon parrots (Amazona aestiva). Forty hatchlings were fed semi-purified diets containing one of four (as-fed basis) protein levels: 13%, 18%, 23% and 28%. The experiment was carried out in a randomized block design with the initial weight of the nestling as the blocking factor and 10 parrots per protein level. Regression analysis was used to determine relationships between protein level and biometric measurements. The data indicated that 13% crude protein supported nestling growth with 18% being the minimum tested level required for maximum development. The optimal protein concentration for maximum weight gain was 24.4% (p = 0.08; r(2) = 0.25), tail length 23.7% (p = 0.09; r(2) = 0.19), wing length 23.0% (p = 0.07; r(2) = 0.17), tarsus length 21.3% (p = 0.06; r(2) = 0.10) and tarsus width 21.4% (p = 0.07; r(2) = 0.09). Tarsus measurements were larger in males (p < 0.05), indicating that sex must be considered when studying developing psittacines. These results were obtained using a highly digestible protein and a diet with moderate metabolizable energy levels.

Effects of six carbohydrate sources on diet digestibility and postprandial glucose and insulin responses in cats.

The effects of diets with different starch sources on the total tract apparent digestibility and glucose and insulin responses in cats were investigated. Six experimental diets consisting of 35% starch were extruded, each containing one of the following ingredients: cassava flour, brewers rice, corn, sorghum, peas, or lentils. The experiment was carried out on 36 cats with 6 replications per diet in a completely randomized block design. The brewers rice diet offered greater DM, OM, and GE digestibility than the sorghum, corn, lentil, and pea diets (P < 0.05). For starch digestibility, the brewers rice diet had greater values (98.6%) than the sorghum (93.9%), lentil (95.2%), and pea (96.3%) diets (P < 0.05); however, starch digestibility was >93% for all the diets, proving that despite the low carbohydrate content of carnivorous diets, cats can efficiently digest this nutrient when it is properly processed into kibble. Mean and maximum glucose concentration and area under the glucose curve were greater for the corn-based diet than the cassava flour, sorghum, lentil, and pea diets (P < 0.05). The corn-based diets led to greater values for the mean glucose incremental concentration (10.2 mg/dL), maximum glucose incremental concentration (24.8 mg/dL), and area under the incremental glucose curve (185.5 mg.dL(-1).h(-1)) than the lentil diet (2.9 mg/dL, 3.1 mg/dL, and -40.4 mg.dL(-1).h(-1), respectively; P < 0.05). When compared with baseline values, only the corn diet stimulated an increase in the glucose response, occurring at 4 and 10 h postmeal (P < 0.05). The corn-based diet resulted in greater values for maximum incremental insulin concentration and area under the incremental insulin curve than the lentil-based diet (P < 0.05). However, plasma insulin concentrations rose in relation to the basal values for cats fed corn, sorghum, pea, and brewers rice diets (P < 0.05). Variations in diet digestibility and postprandial response can be explained by differences in the chemical composition of the starch source, including fiber content and granule structure, and also differences in the chemical compositions of the diets. The data suggest that starch has less of an effect on the cat postprandial glucose and insulin responses than on those of dogs and humans. This can be explained by the metabolic peculiarities of felines, which may slow and prolong starch digestion and absorption, leading to the delayed, less pronounced effects on their blood responses.

Utilização de indicadores para estimar a digestibilidade aparente em gatos / Use of markers to estimate the apparent digestibility in domestic cats

Compararam-se os métodos de coleta total (CT) e dos indicadores óxido crômico (Cr2O3), cinzas insolúveis em ácido (CIA) e lignina na determinação dos coeficientes de digestibilidade aparente (CDA) dos nutrientes para gatos. Os CDA de quatro rações foram determinados pela CT e estimados pelos diferentes indicadores em teste. Foram utilizados 24 gatos adultos castrados, alojados em gaiolas metabólicas individuais, totalizando seis animais por ração. O experimento seguiu um delineamento inteiramente ao acaso, em parcelas subdivididas, sendo as rações as parcelas, os métodos as subparcelas e cada gato uma unidade experimental. Os CDA foram significativamente menores pelo método da lignina em uma das rações estudadas (P<0,05). Os métodos Cr2O3, CIA e CT resultaram em CDA iguais em todas as rações (P>0,05). As taxas de recuperação dos indicadores, médias±erro-padrão da média, foram, respectivamente, de 97,1±2,5 por cento, 97,3±2,9 por cento e 83,9±9,1 por cento para o Cr2O3, CIA e lignina. A CIA e o Cr2O3 mostraram grande potencial para utilização como indicadores, enquanto a ampla variabilidade dos resultados obtidos com a utilização da lignina não justificou seu emprego como substância índice para felinos.

The total collection (TC) method was compared to chromium oxide (Cr2O3), acid-insoluble ash (AIA) and lignin marker methods for determining the coefficients of apparent digestibility (CAD) of nutrients in domestic cats. The CAD of four diets were determined by TC and estimated for the three markers through tests. Twenty-four adult neutered cats were housed in individual metabolic cages, totaling six animals per diet. The experiment was carried out using a completely randomized design in subdivided blocks where diets were blocks, methods were sub-blocks and each cat an experimental unit. CAD for the lignin method was significantly lower than TC method (P<0.05) in one of the studied diets. CAD for the Cr2O3, AIA and TC methods were similar in all diets. Recuperation rates of Cr2O3, AIA and lignin markers were 97.1±2.5 percent, 97.3±2.9 percent and 83.9±9.1 percent respectively. AIA and Cr2O3 methods showed high potential for use as markers while the higher variability in results obtained with the use of lignin did not justify its usage as an indicator substance for felines.

[Acute renal failure and proximal renal tubular dysfuntion in a patient with acquired immunodeficiency syndrome treated with tenofovir]. / Insuficiencia renal aguda y disfunción tubular proximal en paciente diagnosticado de infección VIH t.

Tenofovir, a new nucleotide reverse transcriptase inhibitor that has good antiviral activity against drug-resistant strains of HIV, is structurally similar to cidofovir and adefovir and seems to be less nephrotoxic. Nephrotoxicity of cidofovir and adefovir is well established and they have been associated with increase for acute renal insufficiency due to tubular toxicity, possibly induced via mitochondrial deplection. Tenofovir has little mithocondrial toxicity in in vitro assays and early clinical studies. However some cases of renal tubular dysfuntion and renal failure related to tenofovir treatment have been published recently. Increased plasma concentrations of didanosine were observed after the adition of tenofovir and protease inhibitors can interact with the renal transport of organic anions leading to proximal tubular intracellular accumulation of tenofovir, yield Fanconi syndrome-type tubulopathy. We present a case in wich acute renal failure and proximal tubular dysfunction developed after therapy with tenofovir in a patiente with HIV who had suffered from complications of didanosine treatment. Although nephrotoxicity certainly occurs much less frequently with tenofovir that it does with other nuclotide analogues, use of tenofovir by patients with underlying renal disfuntion, for longer durations and/or associated with didanosine or lopinavir-ritonavir, might be associated with renal toxicity. Patients receiving tenofovir must be monitored for sings of tubulopathy with simple tests such us glycosuria, phosphaturia, proteinuria, phosphoremia and renal function, as well as assessment for signs of mithocondrial toxicity when a nucleoside analogue is being administered, and therapy should be stopped to avoid the risk of definitive renal failure.