R.G. Costa

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression

In mucopolysaccharidosis I, deficiency of α‐L‐iduronidase can cause spinal cord compression (SCC) due to storage of glycosaminoglycans (GAGs) within the cervical meninges. As intravenous enzyme replacement therapy (ERT) is not likely to provide enzyme across the blood–brain barrier, standard treatment for this complication is usually surgical, which has a high morbidity and mortality risk. We report on the use of intrathecal (IT) laronidase in a MPS I patient with SCC who refused the surgical treatment. Assessments were performed at baseline, with clinical and biochemical evaluations, 4‐extremity somatosensory evoked potentials, 12 min walk test and MRI studies of the CNS. Changes on these parameters were evaluated after 4 IT infusions of laronidase administered monthly via lumbar puncture. To our knowledge, this was the first MPS patient who received IT ERT. No major adverse events were observed. There were no clinically significant changes in serum chemistries. CSF GAG results revealed pretreatment values slightly above normal standards: 13.3 mg/L (NVu2009<u200912 mg/L) which after IT laronidase infusions were within normal levels (10.3 mg/L). 12MWT presented a 14% improvement, with better performance on stability and gait control. Maximum voluntary ventilation showed 55.6% improvement considering the percentage of predicted (26.7% at baseline compared to 41.9%); Maximum Inspiration Pressure improved 36.6% of predicted (26.8% at baseline to 36.7%); Pulmonary diffusion improved 17.6% of predicted %. In conclusion, although the improvement observed in this case with IT laronidase should be confirmed in further patients, this procedure seems to be a safe treatment for SCC in MPS I.

Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros

Mucopolysaccharidoses (MPS) are rare genetic diseases caused by deficiency of specific lysosomal enzymes that affect catabolism of glycosaminoglycans (GAG). Accumulation of GAG in various organs and tissues in MPS patients results in a series of signs and symptoms, producing a multisystemic condition affecting bones and joints, the respiratory and cardiovascular systems and many other organs and tissues, including in some cases, cognitive performance. So far, eleven enzyme defects that cause seven different types of MPS have been identified. Before introduction of therapies to restore deficient enzyme activity, treatment of MPS focused primarily on prevention and care of complications, still a very important aspect in the management of these patients. In the 80s treatment of MPS with bone marrow transplantation/hematopoietic stem cells transplantation (BMT/HSCT) was proposed and in the 90s, enzyme replacement therapy (ERT),began to be developed and was approved for clinical use in MPS I, II and VI in the first decade of the 21st century. The authors of this paper are convinced that a better future for patients affected by mucopolysaccharidoses depends upon identifying, understanding and appropriately managing the multisystemic manifestations of these diseases. This includes the provision of support measures (which should be part of regular multidisciplinary care of these patients) and of specific therapies. Although inhibition of synthesis of GAG and the recovery of enzyme activity with small molecules also may play a role in the management of MPS, the breakthrough is the currently available intravenous ERT. ERT radically changed the setting for treatment of mucopolysaccharidosis I, II and VI in the last decade., Benefits can even be extended soon to MPS IV A (ERT for this condition is already in clinical development), with prediction for treatment of MPS III A and the cognitive deficit in MPS II by administration of the enzyme directly into the central nervous system (CNS). A large number of Brazilian services, from all regions of the country, already have experience with ERT for MPS I, II and VI. This experience was gained not only by treating patients but also with the participation of some groups in clinical trials involving ERT for these conditions. Summing up the three types of MPS, more than 250 patients have already been treated with ERT in Brazil. The experience of professionals coupled to the data available in international literature, allowed us to elaborate this document, produced with the goal of bringing together and harmonize the information available for the treatment of these severe and progressive diseases, which, fortunately, are now treatable, a situation which bring new perspectives for Brazilian patients, affected by these conditions.As mucopolissacaridoses (MPS) sao doencas geneticas raras causadas pela deficiencia de enzimas lisossomicas especificas que afetam o catabolismo de glicosaminoglicanos (GAG). O acumulo de GAG em varios orgaos e tecidos nos pacientes afetados pelas MPS resulta em uma serie de sinais e sintomas, integrantes de um quadro clinico multissistemico que compromete ossos e articulacoes, vias respiratorias, sistema cardiovascular e muitos outros orgaos e tecidos, incluindo, em alguns casos, as funcoes cognitivas. Ja foram identificados 11 defeitos enzimaticos que causam sete tipos diferentes de MPS. Antes do advento de terapias dirigidas para a restauracao da atividade da enzima deficiente, o tratamento das MPS tinha como principal foco a prevencao e o cuidado das complicacoes, aspecto ainda bastante importante no manejo desses pacientes. Na decada de 80 foi proposto o tratamento das MPS com transplante de medula ossea/transplante de celulas tronco hematopoieticas (TMO/TCTH) e na decada de 90 comecou o desenvolvimento da Terapia de Reposicao Enzimatica (TRE), que se tornou uma realidade aprovada para uso clinico nas MPS I, II e VI na primeira decada do seculo 21. Os autores deste trabalho tem a conviccao de que um melhor futuro para os pacientes afetados pelas MPS depende da identificacao, compreensao e manejo adequado das manifestacoes multissistemicas dessas doencas, incluindo medidas de suporte (que devem fazer parte da assistencia multidisciplinar regular destes pacientes) e terapias especificas. Embora a inibicao da sintese de GAG e o resgate da atividade enzimatica com moleculas pequenas tambem possam vir a ter um papel no manejo das MPS, o grande avanco disponivel no momento e a TRE intravenosa. A TRE permitiu modificar radicalmente o panorama do tratamento das mucopolissacaridoses I, II e VI na ultima decada, sendo que ainda pode estender seus beneficios em breve para a MPS IV A (cuja TRE ja esta em desenvolvimento clinico), com perspectivas para o tratamento da MPS III A e do deficit cognitivo na MPS II atraves de administracao da enzima diretamente no sistema nervoso central (SNC). Um grande numero de centros brasileiros, incluindo servicos de todas as regioes do pais, ja tem experiencia com TRE para MPS I, II e VI. Essa experiencia foi adquirida nao so com o tratamento de pacientes como tambem com a participacao de alguns grupos em ensaios clinicos envolvendo TRE para essas condicoes. Somados os tres tipos de MPS, mais de 250 pacientes ja foram tratados com TRE em nosso pais. A experiencia dos profissionais brasileiros, somada aos dados disponiveis na literatura internacional, permitiu elaborar este documento, produzido com o objetivo de reunir e harmonizar as informacoes disponiveis sobre o tratamento destas doencas graves e progressivas, mas que, felizmente, sao hoje trataveis, uma realidade que traz novas perspectivas para os pacientes brasileiros afetados por essas condicoes.

Efeito do feno de flor-de-seda sobre a carcaça e constituintes corporais de cordeiros Morada Nova

The objective of this study was to evaluate the nuse of silk flower (Calotropis procera SW) hay in n32 castrate male lambs of Morada Nova breed, in nfeedlot, fed with diets containing 0.0, 15.0, 30.0, nand 45.0% of silk flower hay (SFH). The animals n(12.72±1.99 kg BW) were slaughtered at n19.29±2.25 kg BW. A completely randomized design, nwith four diets and eigth replicates, was used. nIncreasing SFH levels reduced carcass confor- nmation (2.31, 2.58, 2.17 and 1.81 points), leg nperimeter (33.38, 32.17, 32.17, 30.00 cm), carcass ncompacity (live weigth/carcass length) (0.18, 0.18, n0.17, 0.15 cm), corrected half carcass weight n(4.52, 4.63, 4.43, 3.69 kg), loin weight (0.66, 0.69, n0.64, 0.50 kg), shoulder weight (0.83, 0.86, 0.80, n0.67 kg) and rib weight (1.13, 1.09, 1.05, 0.84 kg), nwhile there was a linear increase in leg weight n(30.98, 30.81, 31.60, 34.47 kg) and mesenteric fat npercentage (1.02, 0.65, 1.17, 1.42%). Increasing ndietary levels of SFH to lambs affected carcass nmeasurements and carcass yield, retail cuts and nnon-carcass components. It is thought that the ninclusion of 30% of SFH in the diet is excellent for nthe maintenance of carcass characteristics in nregions where there is access to this fodder plant.

FAT COMPONENTS FROM PRECOOKED “BUCHADA”: AN EDIBLE GOAT MEAT BY-PRODUCT COMPONENTES DE LA GRASA DE “BUCHADA” PRECOCIDA: UN SUBPRODUCTO COMESTIBLE DE LA CARNE DE CABRA

Abstract Total fat, phospholipid, cholesterol and fatty acid profile were determined for an edible goat meat by-products, named «Buchada», mainly composed by red and white visceras and blood. Such products, which have a large acceptance in Latin-American countries, appeared as one of the alternatives for a better yield of edible meat goat by-products. Five formulations elaborated with visceras and goat blood, all edible meat by-products were analysed. Total fat, total cholesterol and total phospholipids contents were high in the edible goat meat by-products, ranged from 70 to 160 g/kg; 1700 to 1940 mg/kg; 70 to 140 mg/kg, respectively. Fatty acids composition showed «buchada» contained mostly stearic acid, oleic acid, palmitic acid, and low levels of unsaturated fatty acids. Since it presents high levels of fat, cholesterol and saturated fatty acids, its consumption must be monitored for people submitted to diet with fat restriction. Resumen Se determinó la grasa total, fosfolípidos, colesterol y perfil de ácidos grasos para un subrpducto comestible de la carne de cabra llamado «Buchada». Esta compuesto principalmente por sangre y vísceras rojas y blancas. Este producto, el cual tiene mucha aceptación en los países de Latinoamérica, representa una alternativa para mejorar el rendimiento de los subproductos de la carne de cabra. Se analizaron cinco formulaciones de subproductos comestibles a base de vísceras y sangre de cabra. El contenido de grasa total, colesterol total y fosfolípidos totales fueron altos en los subproductos comestibles de la carne de cabra, variando de 70 a 160 g/kg; 1700 a 1940 mg/kg; 70 a 140 mg/kg, respectivamente. La composición de ácidos grasos demostró que la buchada contenía principalmente acido esteárico, oleico y palmitito, así como bajos niveles de ácidos grasos insaturados. Ya que se encontraron altos niveles de grasa, colesterol y ácidos grasos saturados, su consumo debe ser monitoreado para las personas con dietas restringidas en grasa. Palabras clave: Vísceras de cabra, lípidos, ácidos grasos, colesterol, subproductos

Características de carcaça de ovinos alimentados com subproduto da goiaba

It was evaluated the carcass characteristics of 40 sheeps of Santa Ines breed, uncastrated, with initial average weight of 17.41 ± 1.27 kg and average age of 120 days and slaughtered with body weight of 32 kg or 105 days of confinement. The animals were placed in individual stalls and fed with diets containing increasing levels (0, 20, 40 and 60 %) of corn replacement by guava agroindustrial by-product. It was used the lineation completely at random with four treatments and ten repetitions. It occurred a diet effect over the weight and the percentage of carcasses and retail cuts. The replacement of 60 % of corn by guava agroindustrial by-product provided smaller hot carcass weight (11.91 kg) and cold carcass (11.81 kg), lower hot carcass yield (42.08 %) and cold carcass weight (41.72 %), lower rib eye area (9.94 cm2), and muscle (0.33 g/cm), and higher content of gastrointestinal tract (7.43 kg). It is estimated that the inclusion of up to 40 % of guava agroindustrial by-product in the diet replacing the corn is relevant to attaining carcasses with characteristics appropriate to the consumer market, especially where this food resource is available.

Consumo de agua de ovinos alimentados con diferentes niveles de nopal (Opuntia ficus indica) en Brasil

Resumen es: En 45 ovinos machos Santa Ines (peso vivo medio de 27,50 ± 0, 48 kg) se evaluo el consumo de agua, al consumir raciones con niveles crecientes (0, 25, 5...