Anaesthetic implications for Pompe disease. A case description.

Pompe disease, or type II glycogenosis, is a rare metabolic myopathy inherited in an autosomal recessive pattern, characterized by progressive muscle weakness and multisystem involvement. The disease often results in premature death. Patients with Pompe disease are at high risk for anaesthesia-related complications, particularly cardiac and respiratory problems, although difficult airway management is the greatest complication. It is essential to perform a comprehensive preoperative study in order to reduce the risk of perioperative morbidity and mortality, and to obtain as much information as possible for the surgical procedure. In this article, we report the case of a patient with a history of adult Pompe disease who underwent combined anaesthesia for osteosynthesis of the proximal end of the left humerus.

Implicaciones anestésicas en la enfermedad de Pompe. Descripción de un caso / Anaesthetic implications for Pompe disease. A case description

La enfermedad de Pompe o glucogenosis tipo ii es una miopatía metabólica rara, de herencia autosómica recesiva, que se caracteriza por debilidad muscular progresiva y afectación multisistémica, acompañada, habitualmente, de muerte temprana. Los pacientes con esta enfermedad presentan alto riesgo anestésico en relación con problemas tanto de origen cardiaco como respiratorio, aunque las mayores complicaciones son las derivadas del manejo de la vía aérea, potencialmente dificultoso. Un buen estudio preoperatorio es fundamental para disminuir la morbimortalidad perioperatoria, optimizando y aportando la mayor información posible de cara a la intervención quirúrgica. En este artículo se expone el caso de un paciente con antecedentes de enfermedad de Pompe del adulto sometido a anestesia combinada para osteosíntesis de extremo proximal de húmero izquierdo.(AU)

Pompe disease, or type ii glycogenosis, is a rare metabolic myopathy inherited in an autosomal recessive pattern, characterized by progressive muscle weakness and multisystem involvement. The disease often results in premature death. Patients with Pompe disease are at high risk for anaesthesia-related complications, particularly cardiac and respiratory problems, although difficult airway management is the greatest complication. It is essential to perform a comprehensive preoperative study in order to reduce the risk of perioperative morbidity and mortality, and to obtain as much information as possible for the surgical procedure. In this article, we report the case of a patient with a history of adult Pompe disease who underwent combined anaesthesia for osteosynthesis of the proximal end of the left humerus.(AU)

[Reporte de la Primera Reunión Nacional de Consenso para la Inmunofenotipificación de Leucemias Agudas].

En 2005 se publicaron recomendaciones para la tipificación de hemopatías malignas en Latinoamérica. Se consideró necesario realizar una reunión nacional para actualizarlas. Se convocaron y reunieron 95 profesionales expertos en el tema para analizar y contrastar alternativas y llegar a un consenso. Se alcanzaron opiniones de consenso en lo relativo a indicaciones, tipos y manejo de muestras, anticuerpos, nomenclatura e informe de resultados para el diagnóstico y seguimiento de las leucemias agudas. Las recomendaciones se describen en este artículo y se hace hincapié en la necesidad de que los laboratorios nacionales se apeguen a ellas.

Recommendations for the typing of hematological malignancies in Latin America were published in 2005. Carrying out a national meeting to update them was deemed necessary. 95 professional experts on the subject were invited in order to analyze and contrast alternatives and reach a consensus. Consensus opinions were reached regarding indications, sample types and processing, antibodies, nomenclature and reporting of results for the diagnosis and monitoring of acute leukemias. This paper describes the recommendations and emphasizes on the need for national laboratories to adhere to them.

Thrombus formation following transcatheter aortic valve replacement.

OBJECTIVES: This paper reviews the published data and reports 3 cases of thrombosis involving CoreValve (Medtronic, Minneapolis, Minnesota) and 1 involving Edward Sapien (Edwards Lifesciences, Irvine, California) devices. Three of these cases had pathological findings at autopsy. BACKGROUND: Only a limited number of cases of valve dysfunction with rapid increase of transvalvular aortic gradients or aortic insufficiency post-transcatheter aortic valve replacement (TAVR) have been described. This nonstructural valvular dysfunction has been presumed to be because of early pannus formation or thrombosis. METHODS: Through reviews of the published reports and 4 clinical cases, pathological and clinical findings of early valve thrombosis are examined to elucidate methods for recognition and identifying potential causes and treatments. RESULTS: This paper presents 4 cases, 2 of which had increasing gradients post-TAVR. All 3 pathology cases showed presence of a valve thrombosis in at least 2 TAV leaflets on autopsy, but were not visualized by transthoracic echocardiogram or transesophageal echocardiogram. One case was medically treated with oral anti coagulation with normalization of gradients. The consequence of valve thrombosis in all 3 pathology patients either directly or indirectly played a role in their early demise. At least 18 case reports of early valve thrombosis have been published. In 12 of these cases, the early treatment with anticoagulation therapy resolved the thrombus formation and normalized aortic pressures gradients successfully. CONCLUSIONS: These 4 cases elucidate the occurrence of valve thrombosis post-TAVR. Consideration should be given to treatment with dual antiplatelet therapy and oral anticoagulation in patients post-TAVR with increasing mean pressure gradients and maximum aortic valve velocity. Further research should be conducted to create guidelines for antithrombotic therapy following TAVR procedure.

Acute Poisoning with Dapsone and Olanzapine: Severe Methemoglobinemia and Coma with a Favourable Outcome.

Dapsone is a drug commonly used in the treatment of leprosy. In Europe it is rarely prescribed, mostly for the treatment of skin diseases such as dermatitis herpetiformis. Poisoning with dapsone is rare and reports of such cases are of interest for toxicological practice. We describe the only acute dapsone poisoning in a caseload series of 21,000 intoxications treated in the Clinical Toxicology Clinic at St George University Hospital in Plovdiv, Bulgaria between 1999 and 2013. We report on a 36-year-old woman who attempted deliberate self-poisoning with an ingestion of approximately 4.5 g of dapsone and 0.3 g of olanzapine. On admission, the patient was in a state of severe intoxication and comatose. On admission to hospital 9 hours after the ingestion, the methemoglobin level was 51.7%. The patient recovered 8 days later. She received complex treatment including intubation, ventilation, repeated gastric lavage, hemodialysis, blood exchange transfusion and antidote treatment with methylene blue. She was discharged in good clinical condition with minimal organ damage such as mild toxic hepatitis.

Snake venom poisoning in the Plovdiv region from 2004 to 2012.

INTRODUCTION: Envenomation by poisons of biological origin is very common globally in the tropical and subtropical areas mainly, where the biological diversity of the species clearly leads to evolution of highly toxic species. The weather warming trend in Bulgaria, whether cyclic or permanent, allows for a change in the biological response of reptiles and insects inhabiting the temperate zone by a possible migration of biological species from the subtropical zone towards the temperate zone because of the new environmental conditions. There are very few studies on snake bite envenoming in Bulgaria. The AIM of the study was to find the incidence of the acute accidental intoxication (AAI) caused by snake venom in adult individuals in a large region of Bulgaria between 2004 and 2012 and characterises it by number, type, main clinical features, course and socio-demographic parameters of the victims so that preventive measures can be taken, wherever necessary. MATERIALS AND METHODS: We studied retrospectively all 68 cases of AAI caused by snake venom in adult individuals (> 18 years old) hospitalized in the Clinic of Toxicology in St. George University Hospital, Plovdiv over the period from 2004 to 2012 by 23 quantitative and qualitative parameters. RESULTS: We found that the average annual incidence of snake venom AAI in adult population in the region of Plovdiv was relatively low for the specified period (9.5 per 100000 residents); the snake venom AAI increases or decreases every other year, with no clearly delineated trend for now. The prevalence of envenomation by poisons of biological origin increased from 2.3% in 1990-1998 to 9.5-10.33% between 2007 and 2012. The main sociodemographic characteristics of snake bite victims are similar to those in other Balkan and Central European countries. The clinical response to poisons of biological origin is generally identical with the response to the viper (Vipera ammodytes)--mild to medium intensity with predominantly local toxic syndrome. CONCLUSIONS: The algorithm of Clinical Pathway 293 (CP) is effective and conducive to the reduction of duration of the morbid condition. There are, however, still aspects of it that can be optimised.

Isolation and characterization of a new fungal genus and species, Aphanoascella galapagosensis, from carapace keratitis of a Galapagos tortoise (Chelonoidis nigra microphyes).

A new fungal genus and species, Aphanoascella galapagosensis, recovered from carapace keratitis in a Galapagos tortoise residing in a south Texas zoological collection, is characterized and described. The presence of a pale peridium composed of textura epidermoidea surrounded by scarce Hülle cell-like chlamydospores, and the characteristic reticulate ascospores with an equatorial rim separates it from other genera within the Onygenales. The phylogenetic tree inferred from the analysis of D1/D2 sequences demonstrates that this fungus represents a new lineage within that order. As D1/D2 and ITS sequence data also shows a further separation of Aphanoascus spp. into two monophyletic groups, we propose to retain the generic name Keratinophyton for species whose ascospores are pitted and display a conspicuous equatorial rim, and thereby propose new combinations in this genus for four Aphanoascus species.

Genetic evidence of two stocks of the whitemouth croaker Micropogonias furnieri in the Río de la Plata and oceanic front in Uruguay.

Analysis of the mitochondrial DNA control region resolved two stocks of whitemouth croaker Micropogonias furnieri in Uruguayan waters, one in the Río de la Plata and the other on the Uruguayan shelf. The whitemouth croaker is the most important coastal fishery resource along the coast and has the greatest commercial importance in the Río de la Plata and its oceanic front. The number of pair-wise differences (pi) and haplotype diversity (h) showed significant differences between the two regions. Frequencies of mtDNA haplotypes did not differ between Río de la Plata from Bahia Blanca M. furnieri. Samples from the oceanic front showed greater genetic variability and a larger effective number of females that were an order of magnitude larger than that in Río de la Plata. Mismatch distributions showed evidence of a recent population expansion in the oceanic region, beginning c. 40,000 b.p. The presence of two stocks of the M. furnieri in the study area should be considered in the management of this species' fishery.

[Safety of the blood supply in Mexico from 1999 to 2003]. / La seguridad de las reservas sanguíneas en la República Mexicana durante los años 1999 a 2003.

INTRODUCTION: The incidence of the infection by the viruses of the human immunodeficiency (HIV), hepatitis B (HBV) and hepatitis C (HCV) has diminished enormously in developed countries during the last 20 years; nevertheless, in our country we do not know such an incidence and, therefore, the safety of our blood supply. MATERIAL AND METHODS: We performed a retrospective analysis at the Centro Nacional de la Transfusión Sanguínea (CNTS) assessing 17,176,298 serologic tests including HIV, HCV and HBV carried on 5,725,432 blood units collected and informed to the CNTS from January 1999 to December 2003 by all the Mexican blood banks. Prevalence, incidence and residual risk of each one of the aforementioned serologic markers were calculated. RESULTS: The five years mean prevalence for HIV, HBV and HCV has remained steady. The residual risk (RR) when hemagglutination test was employed was 1:977 for HCV; 1:1,564 for HBV and 1:1,262 for HIV. Whereas the RR when ELISA was performed decreased to 1:2,781 for HCV; 1:3,185 for HBV and 1:9,969 for HIV. If nucleic acid amplification test were employed, RR would be 1:8,170 for HBV; 1:9,915 for HCV and 1:19,939 for HIV. CONCLUSIONS: The theoretical risk for transfusion-transmitted diseases in our country is still worrisome.

La seguridad de las reservas sanguíneas en la República Mexicana durante los años 1999 a 2003 / Safety of the blood supply in Mexico from 1999 to 2003

Introduction. The incidence of the infection by the viruses of the human immunodeficiency (HIV), hepatitis B (HBV) and hepatitis C (HCV) has diminished enormously in developed countries during the last 20 years; nevertheless, in our country we do not know such an incidence and, therefore, the safety of our blood supply. Material and methods. We performed a retrospective analysis at the Centro Nacional de la Transfusión Sanguínea (CNTS) assessing 17,176,298 serologic tests including HIV, HCV and HBV carried on 5,725,432 blood units collected and informed to the CNTS from January 1999 to December 2003 by all the Mexican blood banks. Prevalence, incidence and residual risk of each one of the aforementioned serologic markers were calculated. Results. The five years mean prevalence for HIV, HBV and HCV has remained steady. The residual risk (RR) when hemagglutination test was employed was 1:977 for HCV; 1:1,564 for HBV and 1:1,262 for HIV. Whereas the RR when ELISA was performed decreased to 1:2,781 for HCV; 1:3,185 for HBV and 1:9,969 for HIV. If nucleic acid amplification test were employed, RR would be 1:8,170 for HBV; 1:9,915 for HCV and 1:19,939 for HIV. Conclusions. The theoretical risk for transfusion-transmitted diseases in our country is still worrisome.

Introducción. La transmisión del virus de la inmunodeficiencia humana (VIH), de la hepatitis C (VHC) y de la hepatitis B (VHB) por transfusión sanguínea ha disminuido de manera significativa en los países industrializados durante los últimos 20 años; sin embargo, en nuestro país aún no conocemos dicha incidencia y consecuentemente la seguridad de nuestras reservas sanguíneas. Material y métodos. Se realizó un estudio retrospectivo en el Centro Nacional de la Transfusión Sanguínea (CNTS) analizando 17,176,298 pruebas serológicas incluyendo VIH, VHC y VHB realizadas a 5,725,432 unidades de sangre captadas e informadas al CNTS de enero de 1999 a diciembre de 2003 por todos los bancos de la República Mexicana. Se calcularon la prevalencia, la incidencia y el riesgo residual para cada uno de los marcadores serológicos mencionados. Resultados. La prevalencia en los cinco años para el VIH, VHB y VHC se ha mantenido estable entre los donantes. El riesgo residual encontrado con la prueba de hemaglutinación fue de 1:977 para el VHC; de 1:1,564 para el VHB y de 1:1,262 para el VIH. Con la prueba de ELISA el riesgo descendió a 1:2,781 para el VHC; 1:3,185 para el VHB y 1:9,969 para el VIH. Si se empleara la prueba de amplificación de ácidos nucleicos, el riesgo disminuiría a 1:8,170 para el VHB; 1:9,915 para el VHC y a 1:19,939 para el VIH. Conclusiones. El riesgo de transmitir infecciones por transfusión sanguínea en nuestro país es todavía preocupante.

Detection of West Nile virus in the Mexican blood supply.

BACKGROUND: West Nile virus (WNV) is the etiologic agent of an emerging disease in the Western Hemisphere that can be transmitted to humans by blood transfusion. WNV first appeared in the United States in 1999, in Canada in 2001, and in Mexico in 2002. The aim of this nationwide study was to determine the prevalence of WNV in blood donors in Mexico as a first step in preventing its transfusion-associated transmission. STUDY DESIGN AND METHODS: In July and August 2004, a total of 3856 fresh plasma specimens collected from each state's center for blood transfusion in 29 of 31 Mexican states were screened with an investigational WNV assay (Procleix,(R) Gen-Probe Inc. and Chiron Corp.), a nucleic acid test based on transcription-mediated amplification (TMA). Reactive specimens were confirmed with a second TMA-based test, the alternative WNV assay (Gen-Probe), and with WNV capture enzyme-linked immunosorbent assays (ELISAs) for detection of immunoglobulin M (IgM) and IgG antibodies. In addition, 3714 frozen plasma samples collected in 2002 and 2003 were similarly tested. RESULTS: One of 3856 fresh samples from an asymptomatic donor from Chihuahua was reactive by both TMA-based tests and IgM ELISA, suggesting a recently acquired infection. The observed percentage of viremic donors blood donors was 0.03 percent. Results from frozen samples were not included in the prevalence calculation and none were TMA-reactive for WNV. CONCLUSIONS: WNV is present in the Mexican blood supply and measures should be taken to reduce the risk of transfusion transmission.

«Doctor, siento debilidad en las piernas» / «Doctor, my legs feel weak»

Se trata de una mujer de 55 años sin hipertensión arterial conocida hasta ese momento ni otros antecedentes clínicos de interés. Tras un proceso agudo de neuropatía sensitivomotora comienza con una hipertensión arterial moderada; permanece ingresada en el hospital durante un mes, siendo diagnosticada de síndrome de Guillain-Barré. La paciente es dada de alta con dosis bajas de fármacos antihipertensivos (IECA). Transcurrido un año del proceso agudo se consigue controlar la tensión arterial sin necesidad de tratamiento, por lo que sospechamos que la hipertensión arterial fue secundaria al proceso neurológico

This is a 55 year old woman with no known arterial hypertension up to now or other clinical background of interest. After an acute sensory-motor neuropathy condition, she began with moderate arterial hypertension. She remained in the hospital for one month, being diagnosed of Guillain-Barre syndrome. The patient was discharged with low doses of antihypertensive drugs (ACEIs). After one year with the acute condition, it was possible to control the blood pressure without need for treatment so that we suspect that the arterial hypertension was secondary to the neurological condition

Hepatitis C seroprevalence in accepted versus deferred blood-donor candidates evaluated by medical history and self-exclusion form.

BACKGROUND: Hepatitis C virus (HCV) represents a viral pandemic that is five times as widespread as human immunodeficiency virus. Blood transfusion posed a major risk of HCV infection in developed countries before 1990, but the introduction of improved blood-screening measures has decreased the risk of transfusion-associated HCV infection, which may now be even lower since the introduction of screening of pooled samples by nucleic acid testing (NAT). Unfortunately, NAT is not affordable in most developing countries. The goal of this work is to assess the usefulness of both screening measures, the medical history, and the self-exclusion form to distinguish between high-risk and low-risk populations of HCV-carrier blood-donor candidates in Mexico. STUDY DESIGN AND METHODS: From February 2002 to April 2003, 4174 consecutive candidates were enrolled in a prospective, nonrandomized and comparative study. In total, 4158 candidates were included in the analysis and divided in two groups: Group A consisted of 3101 accepted donors and Group B consisted of 1057 deferred donors according to a complete medical history and self-exclusion form. The only exclusion criteria was the lack of a signed consent form to enter the study. All candidates from both groups underwent anti-HCV detection by third-generation enzyme immunoassay (EIA). Those who had either a positive or gray-zone signal-to-cutoff ratio underwent polymerase chain reaction and a second EIA test. If the second EIA test resulted in either a positive or gray-zone signal-to-cutoff ratio, a recombinant immunoblot assay test was performed. The chi-square test was used for statistical analysis, and a p value less than 0.05 was considered significant. RESULTS: Anti-HCV prevalence by the EIA method was as follows: 0.61 percent for Group A and 1.32 percent for Group B (p = 0.0243); whereas with recombinant immunoblot assay the prevalence was 0.19 percent for Group A and 0.47 percent for Group B (p = 0.1265). When we analyzed the polymerase chain reaction test results, the prevalence in Group A was 0.10 percent (95% confidence interval, 0.089-0.110) and in Group B was 0.47 percent (95% confidence interval, 0.439-0.500) (p = 0.0159). CONCLUSIONS: The medical history of blood donors in conjunction with serologic screening tests helps to improve blood transfusion safety. This measure is recommended in blood banks of those countries where NAT is still unaffordable.

[Retrospective transfusional audit at the Centro Nacional de la Transfusión Sanguínea]. / Auditoría transfusional retrospectiva en el Centro Nacional de la Transfusión Sanguínea.

BACKGROUND: Prior to a blood transfusion, we should consider the risk benefit ratio. The literature shows that 18 to 57% of red blood cells, up to 96% of fresh frozen plasma and 26% of platelet concentrates are unnecessarily transfused. The goal of the present work is to know the appropriateness of transfusion at public and private health institutions supported by the Centro Nacional de la Transfusión Sanguínea. MATERIAL AND METHODS: An observational, retrospective, transverse and descriptive study was carried out by analyzing the requirements of blood products considering the patient's diagnosis, requested blood components, complete blood count, prothrombin and activated partial thromboplastin time. The therapeutic indication was considered either adequate or inadequate according to the guidelines for the transfusion therapy of blood products. Descriptive statistics for the analysis of the data were used. RESULTS: We analyzed 1,573 request forms received in year 2001. In 849 cases (55%) the indication was adequate, whereas in 724 (45%) the indication of the blood products was inadequate. CONCLUSIONS: Our results show that overtransfusion is a common practice. We propose to follow the guidelines already established for the transfusion of blood components in order to avoid iatrogenia due to overtransfusion.