Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies.

BACKGROUND: Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase. If untreated, the complications of PKU lead to significant neucognitive and neuropsychiatric impairments, placing a burden on both the individual's quality of life and on the healthcare system. We conducted a systematic literature review to characterize the impact of PKU on affected individuals and on healthcare resources in Latin American (LATAM) countries. METHODS: Searches of the global medical literature as well as regional and local medical literature up to September 2021. Observational studies on patients with PKU from any LATAM country. Pairs of reviewers independently screened eligible articles, extracted data from included studies, and assessed their risk of bias. RESULTS: 79 unique studies (47 cross-sectional studies, 18 case series, 12 case reports, and two cohort studies) with a total of 4090 patients were eligible. Of these studies, 20 had data available evaluating early-diagnosed PKU patients for meta-analysis of burden outcomes. Intellectual disability in the pooled studies was 18% [95% Confidence Interval (CI) 0.04-0.38; I2 = 83.7%, p = 0.0133; two studies; n = 114]. Motor delay was 15% [95% CI 0.04-0.30; I2 = 74.5%, p = 0.0083; four studies; n = 132]. Speech deficit was 35% [95% CI 0.08-0.68; I2 = 93.9%, p < 0.0001; five studies; n = 162]. CONCLUSIONS: There is currently evidence of high clinical burden in PKU patients in LATAM countries. Recognition that there are many unmet neuropsychological needs and socioeconomic challenges faced in the LATAM countries is the first step in planning cost-effective interventions.

Phylogenetic analyses of Chlamydia psittaci ompA gene sequences from captive blue-fronted Amazon parrots (Amazona aestiva) with hepatic disease in Brazil.

Chlamydia psittaci was detected in 152 (72%) blue-fronted Amazon parrots (Amazona aestiva, parrot from the Psittacidae family) out of a population of 212 that died during 2009-2011 in a wildlife rescue and rehabilitation centre in Minas Gerais, Brazil, following rescue from illegal wildlife trafficking. The macroscopic changes observed in these animals were hepatomegaly with multifocal white foci visible at the serosal surfaces of the liver, and extending into the parenchyma, and splenomegaly. The microscopic lesions observed in the liver included multifocal to coalescing miliary necrosis of hepatocytes with infiltration by heterophils, lymphocytes and plasma cells. In the spleen, loss of the normal architecture and infiltration by macrophages and plasma cells were observed. Stained tissue sections (Gimenez technique) revealed small round clusters suggestive of C. psittaci (reticulate bodies) in the cytoplasm of macrophages from the liver and spleen. Nine sequences of segments of the ompA gene, obtained from different individuals, were randomly selected for sequencing. The phylogenetic analyses showed that all strains clustered with genotype A, which is the most virulent genotype for birds. This genotype is involved in mortality of psittacines, is easily transmitted in captivity and represents a problem for successful rehabilitation. The results indicate the necessity to improve biosecurity in triage and to provide individual personal protection for professionals and caretakers.

Chlamydia psittaci a été détectée chez 152 (72 %) amazones à front bleu (Amazona aestiva, perroquet de la famille des Psittacidés) sur un total de 212 individus rescapés du trafic illégal et décédés en 2009 et 2011 dans un centre de sauvetage et de réhabilitation de la faune sauvage à Minas Gerais (Brésil). Les modifications macroscopiques observées sur ces oiseaux étaient une hépatomégalie avec des foyers blancs multifocaux visibles sur les surfaces séreuses du foie et s'étendant dans le parenchyme, et une splénomégalie. Les lésions microscopiques observées dans le foie comprenaient une nécrose miliaire multifocale à coalescente des hépatocytes avec infiltration d'hétérophiles, de lymphocytes et de plasmocytes. Dans la rate, une perte de l'architecture normale et l'infiltration de macrophages et de plasmocytes ont été observées. La coloration de coupes de tissus (technique de Gimenez) a révélé de petites grappes rondes évoquant C. psittaci (corps réticulés) dans le cytoplasme des macrophages du foie et de la rate. Neuf produits segmentés d'une partie du gène ompA, obtenus de différents individus, ont été sélectionnés de manière aléatoire pour le séquençage. Les analyses phylogénétiques ont montré que toutes les souches se regroupaient dans le génotype A, qui est le plus virulent pour les oiseaux. Ce génotype est responsable de cas de mortalité chez les psittacidés et se transmet facilement en captivité, ce qui représente un risque pour la réussite des opérations de réhabilitation. Au vu de ces résultats, les auteurs soulignent la nécessité d'améliorer la biosécurité lors du tri des animaux dans les centres de soins et de fournir une protection individuelle aux professionnels et aux gardiens.

Se detectó Chlamydia psittaci en 152 (72%) amazonas frentiazules (Amazona aestiva, loro de la familia Psittacidae) de un total de 212 que murieron durante 2009­2011 en un centro de rescate y rehabilitación de fauna silvestre de Minas Gerais, Brasil, tras haber sido rescatadas del tráfico ilegal. Los cambios macroscópicos que se observaron en estos animales fueron hepatomegalia con focos blancos multifocales visibles en las superficies serosas del hígado y que se extendían hacia el parénquima, y esplenomegalia. Las lesiones microscópicas observadas en el hígado consistieron en necrosis miliar multifocal a coalescente de hepatocitos con infiltración de heterófilos, linfocitos y células plasmáticas. En el bazo, se observó pérdida de la arquitectura normal y infiltración de macrófagos y células plasmáticas. Cortes de tejido teñidos (con la técnica de Giménez) revelaron pequeños racimos redondos que sugerían la presencia de C. psittaci (cuerpos reticulados) en el citoplasma de macrófagos del hígado y del bazo. A partir de distintos individuos, se escogieron aleatoriamente nueve segmentos del gen ompA para ser secuenciados. Los análisis filogenéticos mostraron que todas las cepas correspondían al genotipo A, que es el más virulento para las aves. Este genotipo está involucrado en la mortalidad de psitácidas, se transmite fácilmente en cautiverio y supone un riesgo para el éxito de la rehabilitación. Los resultados indican la necesidad de mejorar la bioseguridad en el triaje y de procurar protección personal individual a profesionales y cuidadores.

Facile fabrication of mesoporous silica micro-jets with multi-functionalities.

Self-propelled micro/nano-devices have been proved as powerful tools in various applications given their capability of both autonomous motion and on-demand task fulfilment. Tubular micro-jets stand out as an important member in the family of self-propelled micro/nano-devices and are widely explored with respect to their fabrication and functionalization. A few methods are currently available for the fabrication of tubular micro-jets, nevertheless there is still a demand to explore the fabrication of tubular micro-jets made of versatile materials and with the capability of multi-functionalization. Here, we present a facile strategy for the fabrication of mesoporous silica micro-jets (MSMJs) for tubular micromotors which can carry out multiple tasks depending on their functionalities. The synthesis of MSMJs does not require the use of any equipment, making it facile and cost-effective for future practical use. The MSMJs can be modified inside, outside or both with different kinds of metal nanoparticles, which provide these micromotors with a possibility of additional properties, such as the anti-bacterial effect by silver nanoparticles, or biochemical sensing based on surface enhanced Raman scattering (SERS) by gold nanoparticles. Because of the high porosity, high surface area and also the easy surface chemistry process, the MSMJs can be employed for the efficient removal of heavy metals in contaminated water, as well as for the controlled and active drug delivery, as two proof-of-concept examples of environmental and biomedical applications, respectively. Therefore, taking into account the new, simple and cheap method of fabrication, highly porous structure, and multiple functionalities, the mesoporous silica based micro-jets can serve as efficient tools for desired applications.

Multiplexed immunoassay based on micromotors and microscale tags.

This work reports on the coupling of antibody-functionalized micromotors and microwire-tagged proteins for rapid and multiplexed immunoassays. While micromotor-induced mixing accelerates the immunoreaction, tagging the proteins with microscopic particles of different sizes and shapes allows for their multiplexed discrimination, alerting of the presence of a biological threat.

Fast and reliable class-selective isoflavone index determination on carbon nanotube press-transferred electrodes using microfluidic chips.

Single-walled carbon nanotube press-transferred electrodes (SWPTEs) are new disposable electrodes where carbon nanotubes act as exclusive electrochemical transducers, being an excellent alternative to common approaches in the field. In the current work, these pioneering SWPTEs coupled to microfluidic chips (MCs) have been employed to develop their first real application. A class-selective electrochemical isoflavone index determination has been proposed for fast and reliable qualitative and quantitative assessment of class-isoflavones based on the co-migration of the total glycosides (TG) and total aglycones (TA) in less than 250 s with very good intra-SWPTE repeatability (RSDs ≤ 8%, n = 5) and inter-SWPTE reproducibility (RSDs ≤ 9%, n = 3). These novel SWPTEs are entering with important roles into the micro and nanotechnology scenes expanding new frontiers in the food analysis and health field.

The efficiency of wire nets in enhancing the biosecurity of poultry in Brazil.

The aim of this study was to evaluate the efficiency of the use of wire nets of various mesh sizes to enhance biosecurity in the poultry industry in Brazil by preventing other bird species from entering chicken houses. The Brazilian poultry industry is technologically advanced and employs updated technology. The current Brazilian guidelines recommend the use of 25.40 mm mesh. However, scientific evidence of the efficiency of the nets recommended by these guidelines is lacking. In this study, a bird biometric methodology was developed to evaluate bird species. The methodology was based on the body dimensions of the animal, and it employed a new statistical design to analyse the data. Three groups of bird species were designated according to their importance. The value of this criterion (the importance of the species) was estimated by assessing the ability of birds to pass through the net. The paradigm was used to study 23 wild avian species that are naturally present in Brazil. The best results were observed for nets with a mesh size < or = 19.11 mm. This mesh size was able to efficiently restrain all of the species studied. However, in the same test, the net with 25.40 mm mesh could not restrain 11 bird species, one of which was Passer domesticus, which is found worldwide. On the basis of these results, the use of 19.11 mm mesh should be strongly recommended in order to achieve biosecurity of poultry houses.

Inclusão de silagem de rama de mandioca em substituição à pastagem na alimentação de vacas em lactação: produção, qualidade do leite e da gordura / Substitution of pasture by cassava foliage silage in the diet of dairy cows: production and quality of milk and milkfat

Avaliou-se o efeito da substituição da pastagem pela silagem de rama de mandioca (SRM) sobre a produção e constituintes do leite e sobre a qualidade da gordura do leite de vacas da raça Holandesa. O delineamento experimental utilizado foi um duplo quadrado latino 4x4, e para o fator níveis de suplementação, foi usado regressão. A dieta-controle foi 50 por cento concentrado e 50 por cento volumoso, e as proporções de substituição do volumoso foram 0, 20, 40 e 60 por cento com base na matéria seca. Todas as dietas eram isoprotéicas. Foram analisados: produção de leite (PL), PL corrigida a 4 por cento (PLC), acidez, gordura ( por cento), densidade, proteína, lactose, sólidos totais, contagem de células somáticas (CCS), ureia e perfil dos ácidos graxos da gordura do leite. Houve efeito linear decrescente da substituição do volumoso pela SRM sobre a PL, PLC e ureia no leite, e efeito (P<0,05) linear crescente sobre a concentração de ácido gama linolênico e ácido palmítico. A acidez, densidade, proteína, gordura, lactose, sólidos totais, CCS e demais ácidos graxos da gordura do leite permaneceram inalterados com a incorporação da SRM na dieta.

The effect of a partial substitution of pasture for cassava foliage silage (CFS) on milk production and composition on fat quality of Holstein cow milk was studied using a replicated 4 X 4 Latin square design with four treatments. Regression was used for the comparison of nutrition levels. The control diet contained 50 percent pasture and 50 percent concentrate on a dry matter basis. The substitution levels of pasture for CFS were 0, 20, 40, or 60 percent of the forage dry matter. All diets were isonitrogenous. The analyzed parameters were: milk production (MP); 4 percent fat-corrected milk production (FCM); acidity; density; concentrations of fat, protein, lactose, urea, and total solids; somatic cell counts (SCC), and milk fatty acids profile. There was a linear decrease effect (P<0.05) in MP, FCM, and urea content with increasing levels of CFS in the diet. Concentrations of gamma linolenic and palmitic acids in milk fat linearly increased (P<0.05) with higher proportions of CFS in the diet. Other contents of milk fatty acids remained similar among treatments as well as acidity; density; concentrations of protein, fat, lactose, and total solids; and SCC.

Efeito do concentrado no desempenho produtivo, reprodutivo e econômico de vacas da raça Holandesa em pastagem de coast-cross / Effect of the concentrate on the productive, reproductive and economic performances of Holstein cows on coast-cross pastures

Avaliou-se o desempenho produtivo, reprodutivo e econômico de vacas da raça Holandesa, mantidas em pastagem de capim-coast-cross e suplementadas com 3 ou 6kg de concentrado/vaca/dia. O pastejo foi sob lotação rotacionada, com um dia de ocupação dos piquetes e 25 ou 35 dias de descanso nas épocas de chuvas ou de seca, respectivamente. A produção de leite foi influenciada pela quantidade de suplemento fornecida. Vacas que receberam 6kg de suplemento produziram mais leite (19,1kg/dia) do que as que receberam 3kg (15,5kg/dia). O primeiro estro pós-parto ocorreu aos 99,9 e 67,8 dias, respectivamente, pelos métodos de identificação visual e dosagem de progesterona, para vacas suplementadas com 3kg de concentrado, e 72,9 e 54,5 dias para as suplementadas com 6kg; os intervalos de partos, obtidos na mesma ordem dos tratamentos citados, foram de 444,8 e 436,8 dias. O método visual para identificação de estros não foi preciso e comprometeu a rentabilidade da atividade.

Productive, reproductive and economic performance of Holstein cows raised on coast-cross pasture and supplemented either 3 or 6kg of concentrate/cow/day were evaluated. Grazing was under rotating with one day of occupation of each feedlot and 25 or 35 days of resting in the rainy or dry seasons, respectively. Milk yield was higher for cows receiving 6kg of concentrate (19.1kg/day) than for cows receiving (15.5kg/day). The first post-calving estrous occurred on 99.9 and 67.8 days, respectively, by visual and progesterone dosage methods for cows fed 3kg of concentrate, and 72.9 and 54.5 days for those fed 6kg. The calving intervals were 444.8 and 436.8 days for cows fed 3kg and 6kg of concentrate, respectively. The visual method for estrous detection was not accurate and compromised business profitability.

[Xanthogranulomatous cystitis: report of a case]. / Cistitis xantogranulomatosa: presentación de un caso.

OBJECTIVE: To report a case of xanthogranulomatous cystitis, a rare disease especially in the western countries (12 of the 16 cases reported were Japanese and Korean). METHODS: A case of xanthogranulomatous cystitis in a 34-year-old female is presented. Patient evaluation included histological, histochemical and immunohistochemical studies. RESULTS/CONCLUSIONS: The lesion was localized to the bladder dome, anatomically related with the urachus. It consisted of collections of histiocytes with lymphoplasmocytic infiltrate. The adhesions observed in the omentum in this case indicate a possible relationship with a previous inflammatory process. Surgery is advocated in most of the cases with good results.

Embolization of mesothelial cells in lymphatics: the route to mesothelial inclusions in lymph nodes?

AIMS: To provide evidence that lymphatic embolization is the mechanism for mesothelial inclusions in lymph nodes. METHODS AND RESULTS: A 60-year-old man with alcoholic cirrhosis and ascites had an umbilical hernia resected. The herniorrhaphy specimen contained numerous dermal and submesothelial lymphatic vessels filled by cells similar to the cells that lined the hernia sac. Most of the cells in lymphatics were submesothelial reactive cells, whose cytoplasm stained with antibodies against cytokeratins (AE1-AE3; 8, 18), smooth muscle actin, vimentin, desmin and tissue polypeptide antigen (TPA). Some cells seemed to be superficial mesothelial cells, being positive with high molecular weight anticytokeratin antibody 34 beta E12. On ultrastructural study submesothelial cells with intermediate cytoplasmic filaments, rough endoplasmic reticulum and primitive cell junctions, and scanty superficial mesothelial cells with microvilli, tonofilaments and desmosomes were found in the lymphatics. CONCLUSIONS: Lymphatic dissemination of mesothelial and submesothelial cells is an uncommon and not well known phenomenon. Lymphatic dissemination is probably the route by which the mesothelial cells reach the lymphatic nodes. These cells may be mistaken for malignant cells.

[Squamous carcinoma of the esophagus with extensive pagetoid dissemination]. / Carcinoma escamoso de esófago con extensa diseminación pagetoide.

A case of squamous carcinoma of the esophagus with pagetoid spreading in a 59-year-old male in presented. Signs of glandular differentiation (PAS-diastase, Alcian blue) and CEA were negative in the Paget-like cells. Pagetoid spreading of squamous carcinoma and true Paget's disease are very similar histologically and very rare in the esophagus (only 6 cases reported) and they must be differentiated from each other. Paget's disease demonstrates glandular differentiation and the cells are CEA positive. The absence of glandular differentiation in the Paget-like cells of pagetoid spreading versus Paget's disease may be a good criteria to differentiate these diseases.