Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

Methylmalonic acidaemia (MMA) is a genetic disorder caused by defects in methylmalonyl-CoA mutase or in any of the different proteins involved in the synthesis of adenosylcobalamin. The aim of this work was to examine the biochemical and clinical phenotype of 32 MMA patients according to their genotype, and to study the mutant mRNA stability by real-time PCR analysis. Using cellular and biochemical methods, we classified our patient cohort as having the MMA forms mut (n = 19), cblA (n = 9) and cblB (n = 4). All the mut (0) and some of the cblB patients had the most severe clinical and biochemical manifestations, displaying non-inducible propionate incorporation in the presence of hydroxocobalamin (OHCbl) in vitro and high plasma odd-numbered long-chain fatty acid (OLCFA) concentrations under dietary therapy. In contrast, mut (-) and cblA patients exhibited a milder phenotype with propionate incorporation enhanced by OHCbl and normal OLCFA levels under dietary therapy. No missense mutations identified in the MUT gene, including mut (0) and mut (-) changes, affected mRNA stability. A new sequence variation (c.562G>C) in the MMAA gene was identified. Most of the cblA patients carried premature termination codons (PTC) in both alleles. Interestingly, the transcripts containing the PTC mutations were insensitive to nonsense-mediated decay (NMD).

[Spanish Registry of Home-based Parenteral Nutrition during 2006 (NADYA-SENPE Group)]. / Registro de la Nutrición Parenteral Domiciliaria (NPD) en España del año 2006 (Grupo NADYA-SENPE).

OBJECTIVE: To report the data of the Home Parenteral Nutrition (HPN) registry of the NADYA-SENPE working group for the year 2006. METHODOLOGY: We compiled the data from the on-line registry introduced by the responsible Units for the monitoring of HPN from January 1st to December 31st 2006. RESULTS: 103 patients with HPN were registered (47 males and 56 females), belonging to 19 hospitals. Average age for the 91 patients older than 14 years old was 53.3 +/- 14.9 years old, and that for the 12 patients under 14 years old was 2 +/- 0 years old. Most frequent pathology was neoplasm (29%), followed by intestinal motility disorders (13%). The reason for HPN provision was short bowel syndrome (40%), intestinal obstruction (22%), and malabsorption (21%). Tunneled catheters were mostly used (45%), followed by implanted port-catheters (32%). Catheter related infections were the most frequent complications, with a rate of 0.85 episodes / 10(3) days. HPD was provided for more than two years in 50% of the cases. By the end of 2006, 70.9% of the patients remained active; exitus was the most frequent reason to end HPN (53%). Complementary oral or enteral nutrition was provided to 52% of the patients. 48% of the patients had a normal activity level, and a 55% were autonomous. PN formula was supplied by the hospital in 82% of the cases, while this number was 78% for fungible materials. 27% of the patients were eligible for intestinal transplant. CONCLUSIONS: We observe an increase in registered patients with respect to previous years, with a very different prevalence among regions. Neoplasia remains as the main pathology since 2003. We observe a decrease in catheter-related infections with respect to the 2004-2005 period.

[Spanish registry of Home-Based Parenteral Nutrition for the years 2004 and 2005 (NADYA-SENPE Group)]. / Registro de la nutrici6n parenteral domiciliaria en España de los años 2004 y 2005 (Grupo NADYA-SENPE).

OBJECTIVE: To report the results of the Home Parenteral Nutrition (HPN) registry of the NADYA-SENPE working group of the years 2004 and 2005. MATERIAL AND METHODS: We summarized the data of the new on-line HPN registry of the NADYA-SENPE group for the period 2004-2005. RESULTS: During the year 2004, 70 HPN-patients (23 males and 47 females) were registered from 14 hospitals. Mean age of adults was 53,7 +/- 14,87 years (m +/- SD) and 6 +/- 2,83 years for those younger than 14 years. The most frequent etiologies of the intestinal failure were neoplasia (24%) and mesenteric ischaemia (19%). Tunnelled catheters were used in 75% of the patients. The catheter-related infections were the most frequent complications, with a rate of 0,98 episodes/10(3) days. In 69% of the cases the nutritional support was maintained for more than 2 years. HPN solutions and disposables were supplied by the hospital pharmacy in 81% and 83%, respectively. Up to 54% of the patients had a normal activity level. The most frequent reasons to end HPN treatment were the transition to oral intake (41%), or exitus (28%). During the year 2005, 79 patients (33 males and 46 females) were registered from 14 hospitals. Mean age of adults was 52,39 +/- 14,21 years and 6,5 +/- 5,21 years for those younger than 14 yrs. The most frequent etiologies of the intestinal failure were neoplasia (22%), and mesenteric ischaemia (15%). Tunnelled catheters were used in 63% of the patients. The catheter-related infections were the most frequent complications, with a rate of 1,14 episodes/10(3) days. In 51% of the cases the nutritional support was maintained for more than 2 years. HPN solutions and disposables were supplied by the hospital pharmacy in 76% and 81%, respectively. Up to 50% of the patients had a normal activity level. The most frequent reasons to end HPN treatment were the transition to oral/enteral feeding (41%) and exitus (31%). CONCLUSIONS: We have observed a mild decrease in the number of HPN patients registered in the period 2004-2005, probably related to the change of the registry. The characteristics of the patients are similar to previous years. We have observed an increase in the septic catheter-related complications in the year 2005.

Trends in adult home parenteral nutrition in Spain. 1992-2003.

UNLABELLED: There are very few data on trends in prevalence in home parenteral nutrition (HPN) in different countries. NADYA is the committee of the Spanish Society for Parenteral and Enteral Nutrition that takes care of the Spanish registry since 1992. METHOD: A 12-year retrospective study of the activity of the registry was performed. The data were extracted from the NADYA's database as well as from the publications and abstracts reported on a yearly basis since 1992. Data on years 1993 and 1997-9 were not available. RESULTS: Yearly prevalence has more than doubled to 86 patients since 1992. The number of reporting centres went up to 17 in 2003 (10 centres in 1992) As an average, the number of patients per centre is 5. The prevalence in 2003 was 2.15 patients per million inhabitants. There are trends to increasing age at the time of the first indication (42 years in 1992; 51 in 2003). Ischemic and thrombotic vascular diseases were the most common underlying diagnosis in adults. Tunnelled central venous catheters were chosen in 2/3 of the patients. Only around 17% of the patients received support from home delivery companies (11% in 1992) There were more than 1 complication per patient and year, mostly HPN-related. CONCLUSIONS: We found a steadily increase in the number of reported patients and reporting centres over time. Prevalence went up to 2.15 patients per million inhabitants in 2003, still far behind the figures from other western countries. The NADYA registry allows a close follow-up of the evolution of HPN in Spain.

[The year 2003 National Registry of Home-based Parenteral Nutrition]. / Registro Nacional de la Nutrición Parenteral Domiciliaria del año 2003.

OBJECTIVE: To report the results of the Home-based Parenteral Nutrition (HBPN) registry of the NADYA-SENPE working group, for the year 2003. MATERIAL AND METHODS: Gathering of registry data introduced by all units responsible of HBPN patient care. This an on-line registry available for authorized users of the working group web page (www.nadya-senpe.com). Epidemiological data, diagnosis, access route, complications, hospital admissions, disability degree, and course at December 31st, 2003 RESULTS: Data from 86 patients (62% female and 38% male) from 17 hospitals were gathered. Mean age of adult patients was 50.7 +/- 15.0 years, whereas for patients younger than 14 years was 2.4 +/- 1.5 years (n = 5 patients). Diseases that prone HBPN were neoplasm (21%), followed by mesenteric ischemia (20%), radiation enteritis (16.3%), motility impairments (10.5%), and Crohn's disease (4.6%). Tunneled catheters were used in 66.3% of the cases versus 29.1% of subcutaneous reservoirs. Mean treatment duration has been 8.5 +/- 4.6 months; 67.4% of patients had been on HBPN for a period of time longer than 6 months. Patient follow-up was mostly done from the reference area hospital (88.4%). In no case patient follow-up was done by the primary care team or by specialists other than those prescribing nutritional support. Nutritional support-related complications were seen in 98 occasions. The most frequent complications were infectious ones. They represented 1.60 hospital admissions per patient. The mean number of visits was 7.9 per patient (6.4 for scheduled visits and 1.5 for emergency visits). By the end of the year, we observed that 73.3% of the patients were still on the program, whereas in 23.3% HBPN had been withdrawn. The main reasons for withdrawal were decease (11 patients), and advancing to oral diet (9 patients). As for the disability degree, 13% were confined to a wheelchair or bed, and only 28% had no disability degree or only mild social disability. CONCLUSIONS: We observed a mild increase in HBPN prevalence rate in Spain (2.15 patients pmp). The main indication was cancer followed by short-bowel syndrome secondary to vascular pathology. Nutritional support-related complications were common, especially those of an infectious origin.

[The year 2002 national register on home-based parenteral nutrition]. / Registro nacional de la nutrición parenteral domiciliaria del año 2002.

AIM: To report on the results of the Registry on Home-based Parenteral Nutrition (HPN) of the NADYA-SENPE working group, corresponding to the year 2002. MATERIALS AND METHOD: Compilation of the registry data loaded by the Units in charge of HPN patients care. It consists of an on-line registry available to the registered users of the group's web page (www.nadya-senpe.com). Epidemiological, diagnostic, access route, complications, hospital admissions, degree of disability, and course until December 31st of 2002. RESULTS: Data from 74 patients were gathered (56.8% women and 43.2% men), from 18 hospital centers. Mean age of adult patients was 49.4 +/- 15.5 years and 2.3-1.1 years for patients younger than 14 years (n=3 patients). Diseases that prompted the use of HPN were mesenteric ischemia (29.7%), followed by neoplasms (16.2%), radiation enteritis (12.2%), motility impairments (8.1%), and Crohn's disease (5.4%). Tunneled catheters were used in 52.7% of cases, as compared to 36.5% of subcutaneous reservoirs. Mean treatment duration was 8.7 +/- 4.4 months; 68.9% of patients remained on HPN for a duration longer than 6 months, and in 41.9% longer than one year. Patients' follow-up was mainly done from the reference hospital (87.8%), and the remaining patients (12.5%) by the home care team. In no case patients were followed by the primary care team or other specialists than the ones that prescribed nutritional support. In 94 cases there were complications related to nutritional therapy. The more frequent complications presented were infectious. These complications represented 1.84 admissions per patient. The mean number of visits was 12.9 per patient (10.2 routinary visits and 2.7 emergency visits). At the end of the year, we observed that 74.3% patients stayed in the program, whereas in the remaining 23.6% HPN had been discontinued. The main causes for discontinuation were death (52.9%), and switch to oral diet (23.5%) or enteral nutrition (11.8%). With regards to disability degree, 16.1% were confined to a wheelchair or bed, and 17.6% had no disability at all or only a mild social disability. CONCLUSIONS: We observed a sustained HPN prevalence rate in Spain (1.8 patient pmp). The main cause for its use was short bowel syndrome secondary to vascular disease, followed by cancer. Complications associated to nutritional therapy were common, especially of infectious origin.

Arylsulfatase A pseudodeficiency in healthy Brazilian individuals.

Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals homozygous for the N350S and 1524+95A<--G mutations were detected, corresponding to a frequency of 1.17% (4 of 324 alleles). The individual frequency of the N350S mutation was 20.7% (71 of 342 alleles) and 7.9% (27 of 342 alleles) for the 1524+95A<--G mutation. The frequency of the ASA-PD allele in our population was estimated to be 7.9%. This is the first report of ASA-PD allele frequency in a South American population. In addition, the methods used are effective and suitable for application in countries with limited resources. All patients with low ASA activity should be screened for ASA-PD as part of the diagnostic protocol for metachromatic leukodystrophy.

[National Registry of Home Parenteral Nutrition of the year 2001]. / Registro Nacional de la Nutrición Parenteral Domiciliaria (NPD) del año 2001.

AIM: We analyse the registered data of home parenteral nutrition (HPN) in our country during the year 2001. METHOD: The data were collected through a previously designed questionnaire. Apart from epidemiological information, the form includes the disease to prescribe this treatment, the specific nutritional treatment used and its duration, access path, complications and readmission rate in hospital, follow-up of the treatment, and progress. All data were processed and analysed by the co-ordinating team. RESULTS: Seventeen hospitals participated, and 66 patients were enrolled. Middle age was 5.5 +/- 4.9 years for patients < 14 years old, and 49.2 +/- 15.8 years for those > or = 14 years old. The more prevalent diagnosis were: ischemic bowel (28.9%), neoplasm (22.7%), radiation enteritis (12.1%), motility disorders (4.5%) and Crohn's disease (4.5%). The mean time on HPN was 8.4 +/- 4.5 months. Tunnelled catheter was the preferential route (62.1%), followed by the implantated one (33.3%). The intermittent method (nocturnal) was preferential (81.8%). Patients receive the formula, mainly from hospital pharmacy (75.7%). The complications related to nutrition (1.3/patient) included the infections (0.46 sepsis/patient, and 0.19 catheter contamination/patients), mechanic (0.15/patient), metabolic (0.1/patient) and electrolytic disorders (0.07/patient). The readmission rate, for nutritional problems, was 1.34/patient. At the end of the year, 74.2% of the patients remained in the HPN program, and 25.8% abandoned the treatment (due to death: 52.9%, and to progress to oral feeding (25.3%). CONCLUSIONS: This review illustrates that the registration of HPN patients in our country is standing (1.65 patients/10(6) habitants), that vascular pathology is the more frequent diagnoses in HPN patients, and the rate of readmission and complications and the behaviour is similar to other series making this as a safe treatment in our place.

[Home Enteral Nutrition: National Registry 2001]. / Nutrición Enteral Domiciliaria (NED): registro nacional 2001.

GOAL: The NADYA-SENPE Working Group analyzed the registered data of patients on Home Enteral Nutrition (HEN) in our country, during year 2001. MATERIAL AND METHODS: The data were collected through a closed questionnaire included on our web site (www.nadya-senpe.com). Apart from epidemiological information, the form includes the indication to prescribe this treatment, the specific nutritional treatment used and its duration, access path, complications and readmission rate in hospital, follow-up of the treatment, patient's quality of life and progress. All data were processed and analyzed by the coordinating team. RESULTS: Twenty two hospitals participated and 3,458 patients, aged 5.6 +/- 4.0 y for those younger than 14 y, and 67.1 +/- 19.5 y for those older than 14 y, were enrolled. Of these patients, 43.4% were diagnosed with neurological diseases and 33.5% with cancer. The mean time on HEN was 6.5 +/- 4.5 months. Oral nutrition was the preferential route (54.5%), followed by nasoenteral tube (32.3%), and in 13.3% ostomy tubes were placed. Polymeric was the formula composition mainly used (85.9%). Patients were followed (71.1%) by the hospital reference Nutritional Support Unit. The complications related to nutrition included mainly the gastrointestinal (0.16 complications/patient), and the mechanical one (0.15 complications/patient). At the end for the year, 48.3% of the patients were in the HEN program, and in 33.3% HEN was finish due to different reasons. In 22.9% of the patients no, o light, discapacity degree was found. CONCLUSIONS: Neurological diseases and cancer were the more frequent diagnoses in HEN patients. Oral access was the higher feeding route due, probably, to the high prevalence of cancer patients. In spite of the elevated prevalence of neurological diseases, a few number of patients, as previous years, were feed with ostomy tube. Due to the few complications observed, HEN is a safe treatment in our country.

[Artificial nutrition in the home. Annual information 1996.Group NADYA-SENPE]. / Nutrición artificial domiciliaria. Informe Anual 1996. Grupo NADYA-SENPE.

Using a simplified questionnaire from the NADYA group, data referring to age, sex, diagnosis, access route, duration, form of administration, complications, and quality of life have been gathered from 1,400 patients (57% male, 43% female) who receive home enteral nutrition, and from 38 patients (20% male and 18% female) who receive home parenteral nutrition. All of these patients come from the 1996 national registry. The most common indication for home enteral nutrition are neoplasias (39%) followed by neurological alterations (33%). The most common access route is oral (48%), followed by a nasogastric tube in 34%, PEG in 10% and surgical ostomies in 7%. The average treatment duration is 6 months. There is an index of 0.74 complications/patient-year (gastrointestinal 0.28 and mechanical alterations 0.19). At the end of the year 58% of the patients continued to use at home enteral nutrition, with a death rate of 17%. The majority of the treated patients presented a severe social disability (28%) or was bed-ridden (22%). The most common indications for home parenteral nutrition are: neoplasia (42%), Crohn_s disease (10%), and mesenteric ischemia (10%). AIDS (8%), radical enteritis (5%), and motility disorders (5%) are less common. In 42% of the cases tunneled catheters are used, and port-a-cath are used in 53%. The average treatment duration is 6.9 months. 1.06 hospitalizations/patient-year have been registered in relation to the nutritional treatment (mainly catheter sepsis). A mortality of 29% is registered, and there is recovery of the oral route in 7.9% of the cases. 50% of the patients present a severe social disability.

[Prostacyclin in the treatment of persistent fetal circulation syndrome]. / La prostaciclina nel trattamento della sindrome da persistenza della circolazione fetale.

Persistent pulmonary hypertension of the neonate (PPHN), described initially by Gersony in 1969 as persistent foetal circulation (PFC syndrome), results from a flawed transition from foetal to extrauterine pulmonary circulation. It is primarily characterised by persistence of, or return to, the suprasystemic pulmonary vascular resistance and pressure normally found in the foetus. The increased pulmonary pressure causes right to left shunting through the ductus arteriosus or the foramen ovale, or both. The resulting hypoxaemia and acidosis may produce further pulmonary vasoconstriction and lead to a vicious cycle of shunting, hypoxia and acidosis. Infants with a wide variety of underlying clinical conditions develop PPHN. This condition is reversible, but can cause very severe and unrelenting respiratory failure and ultimate death when uncontrolled. Although vasodilating agents, such as tolazoline, have been used with variable success in the treatment of PPHN, a generally acceptable therapy is still lacking. We report here the use of prostacyclin (epoprostenol, PGI2) in two infants with severe and refractory hypoxaemia secondary to pulmonary vasoconstriction.

[Home Parenteral Nutrition (HPN) registry in Spain for the years 2007, 2008 and 2009 (NADYA-SENPE Group)]. / Registro de la Nutrición Parenteral Domiciliaria (NPD) en España de los años 2007, 2008 y 2009 (Grupo NADYA-SENPE).

OBJECTIVE: To report the data of the Home Parenteral Nutrition (HPN) registry of the NADYA-SENPE working group for the years 2007, 2008 and 2009. METHODOLOGY: We compiled the data from the on-line registry introduced by the responsible Units for the monitoring of HPN from January 1st 2007 to December 31st 2009. Included fields were: age, sex, diagnosis and reason for HPN, access path, complications, beginning and end dates, complementary oral or enteral nutrition, activity level, autonomy degree, product and fungible material supply, withdrawal reason and intestinal transplant indication. RESULTS: 2007: 133 patients with HPN were registered (61 males and 72 females), belonging to 21 hospitals. Average age for the 119 patients older than 13 years old was 53.7 ± 14.9 years, and 3.6 ± 3.6 y. for the 14 patients under 14 years old. Most frequent pathology was neoplasm (24%), followed by intestinal motility disorders and actinic enteritis (14% both). The reason for HPN provision was short bowel syndrome (43%), malabsorption (27%), and intestinal obstruction (23%). Tunnelled catheters were mostly used (69%), followed by implanted port-catheters (27%). Catheter related infections were the most frequent complications, with a rate of 0.92 episodes/103 HPN days. HPN was provided for more than two years in 50% of the cases. By the end of 2007, 71.4% of the patients remained active; exitus was the most frequent reason to end HPN (57.5%). 26% of the patients were eligible for intestinal transplant. 2008: 143 patients with HPN were registered (62 males and 81 females), belonging to 24 hospitals. Average age for the 133 patients older than 13 years old was 54.7 ± 13.9 years, and 3.7 ± 0.6 y. for the 10 patients under 14 years old. Most frequent pathology was neoplasm (20%), followed by actinic enteritis (14%) and intestinal motility disorders (13% ). The reason for HPN provision was short bowel syndrome (44%), malabsorption (28%), and intestinal obstruction (20%). Tunnelled catheters were mostly used (60%), followed by implanted port-catheters (29%). Catheter related infections were the most frequent complications, with a rate of 0.50 episodes/10³ HPN days. HPN was provided for more than two years in 67% of the cases. By the end of 2008, 71.6% of the patients remained active; exitus was the most frequent reason to end HPN (52.4%). 29% of the patients were eligible for intestinal transplant. 2009: 158 patients with HPN were registered (62 males and 96 females), belonging to 24 hospitals. Average age for the 149 patients older than 13 years old was 55.2 ± 13.0 years. Most frequent pathology was neoplasm (25%), followed by actinic enteritis (12%) and intestinal motility disorders (11%). The reason for HPN provision was short bowel syndrome (42%), malabsorption, and intestinal obstruction (23% both). Tunnelled catheters were mostly used (60%), followed by implanted port-catheters (36%). Catheter related infections were the most frequent complications, with a rate of 0.67 episodes/10³ HPN days. HPN was provided for more than two years in 58% of the cases. By the end of 2009, 79.2% of the patients remained active; full oral nutrition was the most frequent reason to end HPN (48%). 23% of the patients were eligible for intestinal transplant. CONCLUSIONS: We observe an increase in registered patients with respect to previous years, with a very different prevalence among regions. Neoplasia remains as the main pathology since 2003. We observe a decrease in catheter-related infections in the last two years, being the 2008 rate the smallest since the register's beginning.

Tratamiento endovascular de las lesiones traumáticas de la aorta descendente con endoprótesis Apollo®: Experiencia de diez años / Endovascular treatment of descending aortic traumatic lesions with the Apollo® endograft: Ten years experience

Introducción: Las heridas traumáticas de la aorta torácica tienen una alta mortalidad. Su tratamiento es factible si el diagnóstico es rápido y preciso. El abordaje endovascular es una alternativa menos invasiva, con una menor tasa de complicaciones según la literatura. Se presenta una serie de pacientes con traumatismos tratados por este método con la colocación de endoprótesis Apollo®, en el Centervasc - Río de Janeiro, acompañado de seguimiento a largo plazo. Materiales y métodos: Se recogieron de forma prospectiva y retrospectiva los datos de seis pacientesconsecutivos (edad media 37.6 años, entre 19 y 56 años) de los pacientes con lesiones traumáticas de la aorta torácica descendente (5 trauma contuso y uno penetrante) tratados por método endovascular, con carácter de urgencia, con la implantación de endoprótesis recta Apollo® (Nano endoluminal, SC, Brasil) entre 2000 y 2006. Se analizaron las características demográficas de los pacientes, el tipo de trauma, los aspectos técnicos del implante, resultados angiográficos inmediatos y complicaciones tempranas o tardías. Como complicaciones, se consideraron la aparición de flujo persistente periprotésico o intrasaco (endofuga), las fallas estructurales de los dispositivos, la incidencia de paraplegia y la muerte hasta julio de 2010, un período mínimo de 4 años y un máximo de 10 años. Resultados: En cuatro pacientes, el tratamiento se llevó a cabo en menos de 14 hs. tras el traumaen un caso después de 36 horas y en otro caso, sólo 14 días después del evento inicial. Los procedimientos fueron realizados bajo anestesia general sin el drenaje de líquido cefalorraquídeo, con abordaje quirúrgico femoral unilateral asociado a la punción contralateral de la femoral común.La heparinización sistémica se utilizó sólo si no había evidencia de una hemorragia interna o trauma en la cabeza. Ningún paciente experimentó una conversión a procedimiento quirúrgico abierto...

Introdução: As lacerações traumáticas da aorta torácica tem elevada mortalidade imediata. O seu tratamento é factível se o diagnóstico for rápido e preciso. A abordagem endovascularé a alternativa menos invasiva e com menor índice de complicações segundo a literatura. Apresentamos uma série de pacientes vítimas de trauma tratados por este método, com implante de endopróteses Apollo®, no Centervasc-Rio, acompanhados em longo prazo.Materiais e Métodos: Foram coletados de forma prospectiva e retrospectiva os dados de seis pacientes consecutivos (idade média de 37,6 anos, entre 19 e 56 anos) portadores de lesõestraumáticas da aorta torácica descendente (5 traumas contusos e 1 penetrante) tratados pelo método endovascular, em caráter de emergência, com implante de Endopróteses Retas Apollo® (Nano Endoluminal, SC, Brasil) entre 2000 e 2006. Foram analisadas as características demográficas dos pacientes, o tipo de trauma, os aspectos técnicos do implante, os resultadosangiográficos imediatos e as complicações precoces ou tardias. Como complicações considerou-seo surgimento de persistência de fluxo periprotético ou intra saco (endoleak), falhas estruturais dos dispositivos, a ocorrência de paraplegia e de óbito até julho de 2010, com seguimento mínimode 4 anos e máximo de 10 anos.Resultados: Em quatro pacientes o tratamento foi realizado em menos de 14h após o trauma, em um caso após 36h e em um caso, somente 14 dias após o evento inicial. Os procedimentosforam realizados sob anestesia geral, sem drenagem liquórica, com acesso cirúrgico femoral unilateral associado a punção femoral comum contralateral. Heparinização sistêmica somente foi empregada se não houvesse evidência de hemorragia interna ou de trauma cranioencefálico. Nenhum paciente foi submetido a conversão para o procedimento cirúrgico aberto...

Introduction: Traumatic injuries of the thoracic aorta have a high mortality. The treatment is feasible if the diagnosis is prompt and accurate. The endovascular approach is a less invasive alternative,with a lower rate of complications according to the literature. A series of patients with injuries and treated by the placement of the Apollo® endograft were treated at the Centervasc - Río deJaneiro, together with a long-term follow up. Materials and methods: Prospective and retrospective data were collected of six consecutive patients(mean age 37.6 years, range 19 and 56 years) with traumatic lesions of the descending aorta (5 blunt trauma and 1 penetrating trauma) treated in emergency by endovascular approach implanting an Apollo® endograft (Nano endoluminal, SC, Brazil) between 2000 and 2006. The demographiccharacteristics of the patients, the type of trauma, the technical aspects of the endograft, the immediate angiographic results, and early and late complications were analyzed. Among the complications up to July 2010 for a minimum of 4 and a maximum of 10 years we can mentionthe presence of periprothesic or in the sac (endoleak) flow, structural failures of the devices, the incidence of paraplegia and death. Results: In four patients the procedure was carried out within less than 14 hours after the initial trauma and in one case after 36 hours. In another case, 14 days after the index event. Procedures were carried out under general anesthesia without cerebrospinal fluid drainage, with unilateral femoral approach combined with the contralateral puncture of the common femoral. Systemic heparinization was used only under evidence of internal hemorrhage or head trauma. No patient had to be converted to an open surgical procedure...

Short-term follow-up of the nutritional status of children undergoing autologous peripheral blood stem cell transplantation.

A prospective longitudinal study was conducted to analyze the evolution of the nutritional status of 34 children (12 girls and 22 boys), aged 1.5-15.8 years (median age 9.06), undergoing autologous peripheral blood stem cell transplantation (PBSCT). The nutritional status was evaluated at baseline, days +1 and +7, discharge, and day +30 by dietary or parenteral intake, anthropometric and laboratory measurements, and nitrogen balance. At baseline, changes in anthropometric (53%) and biochemical measurements (83%) are frequent but mild. The mean caloric intake was normal. Children with normal values for the anthropometric parameters all had an intake > 80% (p < .01). No correlation was found between the anthropometric and biochemical parameters. During transplantation, significant changes (p < .001) were found for energy intake, albumin, transferrin, and nitrogen balance. Fibronectin, prealbumin, and retinol-binding protein showed only a few changes. All but prealbumin recovered on day +30. No correlation was found between the nutritional status and toxicity or infection in children undergoing autologus PBSCT. The changes in the nutritional status observed at the start of transplantation correlated with the nutrional intake. Anthropometric and biochemical changes are complementary. The results may be ascribable to the fact that the patients in this series had mild malnutrition.

Registro de la nutrición parenteral domiciliaria en España de los años 2004 y 2005 (Grupo NADYA-SENPE) / Spanish Registry of home-based parenteral nutrition for the years 2004 and 2005 (NADYA-SENPE GROUP)

Objetivo: Comunicar los resultados obtenidos en el registro de Nutrición Parenteral Domiciliaria (NPD) del grupo NADYA-SENPE en los años 2004-2005. Material y métodos: Recopilación de los datos del nuevo registro "on-line" de NPD del grupo NADYA-SENPE en el período 2004-2005. Resultados: Durante el año 2004 se registraron 70 pacientes con NPD (23 hombres y 47 mujeres) pertenecientes a 14 centros hospitalarios. La edad media de los pacientes mayores de 14 años fue de 53,7 ± 14,87 años (m ± DS) y de 6 ± 2,83 años para los menores de 14 años. La enfermedad de base más frecuente fue la neoplasia (24%) seguida de la isquemia mesentérica (19%). Los catéteres más utilizados fueron los tunelizados (75%). Las complicaciones más frecuentes fueron las sépticas relacionadas con el catéter, con una tasa de 0,98 infecciones/ 103 días. El tiempo de soporte nutricional fue superior a dos años en el 69% de los casos. El suministro de las soluciones de NPD y del material fungible fue proporcionado por las farmacias hospitalarias en el 81% y el 83%, respectivamente. El 54% de los pacientes presentaban un nivel de actividad normal. En la mayoría de los pacientes la causa de finalización de la NPD fue la transición a la dieta oral (41%), o el fallecimiento (28%). Durante el año 2005 se registraron 79 pacientes con NPD (33 hombres y 46 mujeres), pertenecientes a 14 centros hospitalarios. La edad media de los mayores de 14 años fue de 52,39 ± 14,21 años y de 6,5 ± 5,21 años para los menores de 14 años. La enfermedad de base más frecuente fue la neoplasia (22%), seguida de la isquemia mesénterica (15%). El 63% de los pacientes utilizaron catéteres tunelizados. Las complicaciones más frecuentes fueron las sépticas relacionadas con el catéter (1,14 infecciones/ 103 días). El tiempo de soporte nutricional fue mayor a dos años en un 51% de los pacientes. El suministro de las soluciones de NPD y del fungible fue en el hospital en el 76% y 81%, respectivamente. El nivel de actividad de los pacientes con NPD fue normal en el 50%. Los motivos más frecuentes de finalización del tratamiento fueron la transición a dieta oral/ enteral (41%) y el fallecimiento (31%). Conclusiones: Hemos observado un ligero descenso en el número de pacientes registrados con NPD durante el período 2004-2005, posiblemente en relación con el cambio del registro. Las características generales de los pacientes son similares a las de años anteriores. Se aprecia un aumento en la tasa de complicaciones sépticas relacionadas con el catéter en el año 2005 (AU)

Objective: To report the results of the Home Parenteral Nutrition (HPN) registry of the NADYA-SENPE working group of the years 2004 and 2005. Material y methods: We summarized the data of the new on-line HPN registry of the NADYA-SENPE group for the period 2004-2005. Results: During the year 2004, 70 HPN-patients (23 males and 47 females) were registered from 14 hospitals. Mean age of adults was 53,7 ± 14,87 years (m ± SD) and 6 ± 2,83 years for those younger than 14 years. The most frequent etiologies of the intestinal failure were neoplasia (24%) and mesenteric ischaemia (19%). Tunneled catheters were used in 75% of the patients. The catheter related infections were the most frequent complications, with a rate of 0,98 episodes/103 days. In 69% of the cases the nutritional support was maintained for more than 2 years. HPN solutions and disposables were supplied by the hospital pharmacy in 81% and 83%, respectively. Up to 54% of the patients had a normal activity level. The most frequent reasons to end HPN treatment were the transition to oral intake (41%), or exitus (28%). During the year 2005, 79 patients (33 males and 46 females) were registered from 14 hospitals. Mean age of adults was 52,39 ± 14,21 years and 6,5 ± 5,21 years for those younger than 14 yrs. The most frequent etiologies of the intestinal failure were neoplasia (22%), and mesenteric ischaemia (15%). Tunneled catheters were used in 63% of the patients. The catheter-related infections were the most frequent complications, with a rate of 1,14 episodes/103 days. In 51% of the cases the nutritional support was maintained for more than 2 years. HPN solutions and disposables were supplied by the hospital pharmacy in 76% and 81%, respectively. Up to 50% of the patients had a normal activity level. The most frequent reasons to end HPN treatment were the transition to oral/enteral feeding (41%) and exitus (31%). Conclusions: We have observed a mild decrease in the number of HPN patients registered in the period 2004-2005, probably related to the change of the registry. The characteristics of the patients are similar to previous years. We have observed an increase in the septic catheter related complications in the year 2005 (AU)

Arylsulfatase A pseudodeficiency in healthy Brazilian individuals

Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals homozygous for the N350S and 1524+95A->G mutations were detected, corresponding to a frequency of 1.17 percent (4 of 324 alleles). The individual frequency of the N350S mutation was 20.7 percent (71 of 342 alleles) and 7.9 percent (27 of 342 alleles) for the 1524+95A->G mutation. The frequency of the ASA-PD allele in our population was estimated to be 7.9 percent. This is the first report of ASA-PD allele frequency in a South American population. In addition, the methods used are effective and suitable for application in countries with limited resources. All patients with low ASA activity should be screened for ASA-PD as part of the diagnostic procotol for metachromatic leukodystrophy

Registro Nacional de la Nutrición Parenteral Domiciliaria (NPD) del año 2001 / Registered data of home parenteral nutrition (HPN) in our country during the year 2001

Objetivo: El objetivo de este estudio es analizar los datos registrados por el Grupo de Trabajo NADYA-SENPE de pacientes que han recibido Nutrición Parenteral Domiciliaria (NPD) en nuestro país durante el año 2001. Material y métodos: A partir de un cuestionario previamente diseñado, los médicos del grupo NADYA introducen en la página web (www.nadya-senpe.com), para su ulterior análisis, datos epidemiológicos, diagnóstico, vía de acceso, complicaciones, ingresos hospitalarios, duración del tratamiento, evolución y calidad de vida de los pacientes con NPD. Resultados: Los datos correspondían a 66 pacientes (edad media de 5,5 ñ 4,9 años para pacientes < 14 años y 49,2 ñ 15,8 años para 14 años) controlados por 17 centros hospitalarios. Las patologías que con más frecuencia han comportado este tratamiento fueron: isquemia mesentérica (28,9 por ciento), seguida de enfermedad neoplásica (22,7 por ciento), enteritis rádica (12,13 por ciento), alteraciones de la motilidad (4,5 por ciento) y enfermedad de Crohn (4,5 por ciento), entre otras. Se observó un predominio de los catéteres tunelizados (62,1 por ciento) sobre los implantados (33,3 por ciento) y de la administración cíclica (nocturna) de la nutrición parenteral (NP) (81,8 por ciento). Las farmacias hospitalarias suministraron las fórmulas de NPD con más frecuencia que el Nutriservice (75,7 por ciento versus 24,3 por ciento). La duración media del tratamiento fue de 8,43 ñ 4,52 meses. Se presentaron 86 complicaciones relacionadas con el tratamiento nutritivo (1,3 / paciente), con predominio de las infecciosas (0,67 / paciente) (sepsis: 0,46 / paciente y contaminación de catéter: 0,19 / paciente), seguidas de las mecánicas (0,15 / paciente), de las metabólicas (0,1 / paciente) y de las hidroelectrolíticas (0,07 / paciente). Estas complicaciones comportaron 1,34 hospitalizaciones / paciente. Al finalizar el año, seguían en activo 74,2 por ciento de los pacientes; mientras que en el resto (25,8 por ciento) se había retirado este tratamiento. Las principales causas de retirada fueron por éxitus (52,9 por ciento) y por pasar a depender de dieta oral (25,3 por ciento). El 10,6 por ciento estaban confinados en silla o cama y el 10,6 por ciento no presentaba ningún grado de incapacidad. Conclusiones: Aunque inferior a otros países europeos, se mantiene el número de pacientes con NPD registrados en nuestro país (1,65 pacientes / 106 habitantes). Si bien predomina la patología vascular, sigue creciendo el peso de las neoplasias. Predominio de las complicaciones infecciosas que generan la mayoría de los ingresos hospitalarios (AU)

Aim: We analyse the registered data of home parenteral nutrition (HPN) in our country during the year 2001. Method: The data were collected through a previously designed questionnaire. Apart from epidemiological information, the form includes the disease to prescribe this treatment, the specific nutritional treatment used and its duration, access path, complications and readmission rate in hospital, follow-up of the treatment, and progress. All data were processed and analysed by the co-ordinating team. Results: Seventeen hospitals participated, and 66 patients were enrolled. Middle age was 5.5 ± 4.9 years for patients < 14 years old, and 49,2 ± 15.8 years for those ≥ 14 years old. The more prevalent diagnosis were: ischemic bowel (28.9%), neoplasm (22.7%), radiation enteritis (12.1%), motility disorders (4.5%) and Crohn's disease (4.5%). The mean time on HPN was 8.4 ± 4.5 months. Tunnelled catheter was the preferential route (62.1%), followed by the implantated one (33.3%). The intermittent method (nocturnal) was preferential (81.8%). Patients receive the formula, mainly from hospital pharmacy (75.7%). The complications related to nutrition (1.3/patient) included the infections (0.46 sepsis/patient, and 0,19 catheter contamination/patients), mechanic (0.15/patient), metabolic (0.1/patient) and electrolytic disorders (0.07/patient). The readmission rate, for nutritional problems, was 1.34/patient. At the end of the year, 74.2% of the patients remained in the HPN program, and 25.8% abandoned the treatment (due to death: 52.9%, and to progress to oral feeding (25.3%). Conclusions: This review illustrates that the registration of HPN patients in our country is standing (1.65 patients/106 habitants), that vascular pathology is the more frequent diagnoses in HPN patients, and the rate of re-admission and complications and the behaviour is similar to other series making this as a safe treatment in our place (AU)

Nutrición enteral domiciliaria (NED): registro nacional 2001 / Home enteral nutrition (HEN) in our country, during the year 2001

Introducción y objetivos: Análisis del registro de los pacientes en programa de Nutrición Enteral Domiciliaria (NED) en nuestro país durante el año 2001. Material y métodos: Estudio analítico realizado mediante una base de datos incluida en la web del Grupo NADYA (www.nadya-senpe.com) con los pacientes en NED el año 2001. Han participado 22 hospitales. Se aportan datos epidemiológicos, diagnósticos, vía de acceso, pautas de administración, fórmulas, duración, complicaciones, evolución y grado de incapacidad. Resultados: Incidencia: Se han comunicado 3.458 pacientes, 1.818 varones (53,7 por ciento) y 1.567 hembras (46,3 por ciento). Edad media 5,6 ñ 4,0 años en los menores de 14 años, y 67,1 ñ 19,5 en los mayores de 14 años. Patologías: Predominio de la patología neurológica (43,4 por ciento), seguida de la neoplásica (33,5 por ciento) sobre las demás. Duración: Tiempo medio en NED de 6,5 ñ 4,5 meses. Vías de administración: La vía oral es la más frecuente (54,5 por ciento), seguida de la sonda naso gástrica (SNG) (32,2 por ciento) y de las ostomías (13,3 por ciento). Formas de administración: Predominio de la forma discontinua (66,1 por ciento), mediante goteo (43,4 por ciento) o bolus (22,7 por ciento). Fórmula: La fórmula polimérica fue la más utilizada (85,9 por ciento). Seguimiento: Los pacientes fueron mayoritariamente controlados por la unidad de nutrición de su hospital de referencia (69,3 por ciento). Hospitalizaciones: Se han registrado 7,3 por ciento hospitalizaciones asociadas a la nutrición [0,02 hospitalizaciones / paciente (c / p)]. Complicaciones: Las más frecuentes relacionadas con la nutrición fueron las gastrointestinales (25,9 por ciento; 0,16 c / p) y las mecánicas (24,2 por ciento, 0,15 c / p). Las diarreas han sido las complicaciones gastrointestinales más frecuentes (11,5 por ciento, 0,07 c / p). Evolución: Al finalizar el año el 48,3 por ciento de los pacientes continuaban en activo, mientras que en un 33,3 por ciento se suspendió la NE y en 18,4 por ciento no hubo continuidad de seguimiento. La causa más común de suspensión fue el paso a nutrición oral convencional (47,3 por ciento), seguido de la muerte relacionada con la enfermedad de base (43,5 por ciento). Un 29,7 por ciento de los pacientes estaban confinados en cama o silla, mientras que un 22,9 por ciento no presentaba prácticamente ningún grado de incapacidad. Conclusiones: Persiste la vía de administración oral como la más prevalente frente a la sonda y ostomía. Predominio de la patología neurológica. El bajo número de complicaciones e ingresos comportan que la NED sea un tratamiento seguro en nuestro medio (AU)

Goal: The NADYA-SENPE Working Group analyzed the registered data of patients on Home Enteral Nutrition (HEN) in our country, during year 2001. Material and methods: The data were collected through a closed questionnaire included on our web site (www.nadya-senpe.com). Apart from epidemiological information, the form includes the indication to prescribe this treatment, the specific nutritional treatment used and its duration, access path, complications and read-mission rate in hospital, follow-up of the treatment, patient's quality of life and progress. All data were precessed and analyzed by the coordinating team. Results: Twenty two hospitals participated and 3,458 patients, aged 5.6 ± 4.0 y for those younger than 14 y, and 67.1 ± 19.5 y for those older than 14 y, were enrolled. Of these patients, 43.4% were diagnosed with neurological diseases and 33.5% with cancer. The mean time on HEN was 6.5 ± 4.5 months. Oral nutrition was the preferential route (54.5%), followed by nasoenteral tube (32.3%), and in 13.3% ostomy tubes were placed. Polymeric was the formula composition mainly used(85.9%). Patients were followed (71.1%) by the hospital reference Nutritional Support Unit. The complications related to nutrition included mainly the gastrointestinal (0.16 complications/patient), and the mechanical one (0.15 complications/patient). At the end for the year, 48.3% of the patients were in the HEN program, and in 33.3% HEN was finish due to different reasons. In 22.9% of the patients no, o light, discapacity degree was found. Conclusions: Neurological diseases and cancer were the more frequent diagnoses in HEN patients. Oral access was the higher feeding route due, probably, to the high prevalence of cancer patients. In spite of the elevated prevalence of neurological diseases, a few number of patients, as previous years, were feed with ostomy tube. Due to the few complications observed, HEN is a safe treatment in our country (AU)