A critical overview of household slow sand filters for water treatment.

Household, or point-of-use (POU), water treatments are effective alternatives to provide safe drinking water in locations isolated from a water treatment and distribution network. The household slow sand filter (HSSF) is amongst the most effective and promising POU alternatives available today. Since the development of the patented biosand filter in the early 1990s, the HSSF has undergone a number of modifications and adaptations to improve its performance, making it easier to operate and increase users' acceptability. Consequently, several HSSF models are currently available, including those with alternative designs and constant operation, in addition to the patented ones. In this scenario, the present paper aims to provide a comprehensive overview from the earliest to the most recent publications on the HSSF design, operational parameters, removal mechanisms, efficiency, and field experiences. Based on a critical discussion, this paper will contribute to expanding the knowledge of HSSF in the peer-reviewed literature.

Postprandial glycemia in healthy subjects: Which probiotic dairy food is more adequate?

The consumption of probiotic-enriched dairy products has been associated with many health benefits, including anti-hyperglycemic activity. The effect on health is dependent on the type of probiotic culture used and the dairy product consumed. This study evaluated the effect of different probiotic-enriched dairy matrices (Minas Frescal cheese, Prato cheese, and whey dairy beverage) containing Lactobacillus casei on in vitro and in vivo anti-hyperglycemic activity. For this purpose, in vitro anti-hyperglycemic activity was determined by the inhibition of α-glucosidase and α-amylase activities, and a human study was performed with healthy individuals (n = 15, consumption of bread as a control; bread + Minas Frescal cheese; bread + Prato cheese; bread + dairy beverage) to assess the effects of different probiotic foods on postprandial glycemia. In vitro data showed that Prato cheese presented the highest lipid (36.9 g/100 g) and protein (26.5 g/100 g) contents as well as the highest α-amylase (60.7%) and α-glucosidase (52.6%) inhibition. The consumption of Prato cheese resulted in a lesser increase in blood glucose level (13 mg/dL) compared with the consumption of bread alone (19 mg/dL), Minas Frescal cheese (20 mg/dL), and whey dairy beverage (30 mg/dL), with glycemic indices similar to that observed for the control. The present results demonstrated a good correlation between in vitro and in vivo data, in which the type of dairy matrix affects the anti-hyperglycemic activity. It is concluded that the consumption of probiotic Prato cheese can contribute to the reduction of postprandial glycemia in healthy individuals.

Fauna parasitária e relação parasito-hospedeiro de tambaquis criados na região do Baixo São Francisco, nordeste do Brasil / Parasitic fauna and parasite-host relationship of tambaqui reared in São Francisco river basin, Brazilian northeast

Este trabalho teve como objetivo avaliar a fauna parasitária de tambaquis na região do Baixo São Francisco-AL/SE-Brasil e correlacionar os índices de prevalência e intensidade média com fatores bióticos e abióticos. Foram coletados 252 espécimes para análise parasitológica de 10 pisciculturas. Os parasitos foram contabilizados, identificados, e determinaram-se os índices de prevalência e intensidade média, que foram correlacionados com fatores bióticos e abióticos. Dos peixes coletados, 65,5% estavam parasitados por pelo menos um táxon. Foram encontrados 10 táxons: Monogeneas, Ichthyophthirius multifiliis, tricodinídeos, Piscinoodinium pillulare, Ichthyobodo sp., Dolops carvalhoi, Lernaea cyprinacea, Procamallanus (Spirocamallanus) inopinatus, Henneguya sp. e Myxobolus sp. As maiores prevalências foram encontradas para Monogeneas (49,2%) e Myxobolus sp. (31,5%). Correlações negativas entre prevalência e fatores bióticos (peso e comprimento) foram observadas para Monogeneas (r2= -0,49; r2= -0,43), Myxobolus sp. (r²= -0,46; r²= -0,39) e Henneguya sp. (r²= -0,41; r²= -0,39). O fator abiótico temperatura apresentou correlação negativa com as prevalências de Lernaea cyprinacea (r= -0,39) e tricodinídeos (r= -0,33), enquanto a condutividade elétrica apresentou correlação positiva (r= 0,40) com a prevalência de tricodinídeos. Conclui-se que a fauna parasitária dos tambaquis cultivados na região do Baixo São Francisco é diversificada e com a carga parasitária dependente da qualidade de água e do estágio de desenvolvimento dos peixes.(AU)

This study investigated the parasitic fauna of tambaquis reared in lower Sao Francisco region-Al/SE-Brazil correlating parasitic indices to abiotic and biotic factors. A total of 252 specimens of tambaqui were collected in ten fish farms for parasitological analysis. The parasites were counted, identified and the parasitological indices were determined and correlated to biotic and abiotic factors. Of all collected fish, 65,5 % were parasitized by at least one taxon. Ten taxa were found: Monogeneans, Ichthyophthirius multifiliis, trichodinids Piscinoodinium pillulare, Ichthyobodo sp, Dolops carvalhoi, Lernaea cyprinacea, Procamallanus (Spirocamallanus) inopinatus, Henneguya sp. and Myxobolus sp. The higher prevalences were found to monogeneans (49.2%) and Myxobolus sp. (31.5%). Negative correlation of prevalence and biotic factor (weight and length) were observed to monogeneans (r 2 = -0.49, r 2 = -0.43), Myxobolus sp (r²= -0.46; r²= -0.39) and Henneguya sp (r²= -0.41; r²= -0.39). Abiotic factor of temperature presented a negative correlation to prevalence of Lernaea cyprinacea and trichodinids (r= -0.39 e r= -0.33, respectively) and the electric conductivity presented positive correlation to trichodinids (r= 0.40). It was concluded that parasitic fauna of tambaquis cultured in Lower São Francisco region is diversified and the parasitic load dependent on water parameters and fish growth.(AU)

Methods for quantifying eggs and oviposition rate of Dawestrema cycloancistrium (Monogenea: Dactylogyridae), monogenean parasite of Arapaima gigas (Teleostei: Osteoglossidae).

Dawestrema cycloancistrium is the main ectoparasite causing mortality in fingerlings of pirarucu (Arapaima gigas) in Amazonian aquaculture. Very little is known about the D. cycloancistrium reproductive index and appropriate methods of collecting eggs for investigation. This study aimed to determine the oviposition rate of D. cycloancistrium. To achieve this aim, two egg quantification methods were tested: the estimative method (ME) and the total counting method (MT). Compared with the MT, the ME overestimated the number of eggs counted, which were 2943.5 ± 2840.6 and 1041.5 ± 533 eggs, and the oviposition rate, which was 80.1 ± 58.7 and 31.4 ± 16.4 eggs/parasite/day, for ME and MT, respectively. These results show that for studies quantifying D. cycloancistrium eggs, the total eggs in the sample must be counted, as the estimates made using subsamples are not representative. Using the MT, the oviposition rate for D. cycloancistrium was determined to be 31.4 ± 16.4 eggs per adult parasite per day. The present study demonstrates the egg production capacity of a monogenean species parasite of A. gigas, providing basic biological data for D. cycloancistrium.

Anesthesia by sprinkling method in the gills of tambaqui Colossoma macropomum does not influence intensity and morphology of monogeneans / Anestesia por meio de aspersão nas brânquias de tambaqui Colossoma maropomum não influencia a intensidade e a morfologia de monogeneas

Abstract The present study evaluates the influence of anesthesia on the parasitic fauna of monogenea fish parasites, as its intensity and viability. Two experiments were conducted: Evaluation of an anesthetic method by sprinkling eugenol directly on gills and evaluation of monogenea motility and viability; Comparison of immersion and directly sprinkling on the gills with benzocaine and eugenol followed by evaluation on parasite intensity. The results suggest that the anesthetic sprinkling didn't interfere in the parasite motility, morphology and body surface integrity analyzed by fluorescence method. The monogenean intensity in the gills was lower in fish anesthetized by immersion method compared to the sprinkling method and the control group. This method of anesthesia can be used in parasitological studies.

Resumo O presente estudo avalia a influência da anestesia sobre a fauna parasitária de monogeneas em peixes, sua intensidade e sua viabilidade. Dois experimentos foram realizados: Avaliação de um método anestésico por aspersão eugenol diretamente nas brânquias e avaliação da motilidade das monogeneas e sua viabilidade; e Comparação entre imersão e aspersão diretamente nas brânquias com benzocaína e eugenol, seguido de avaliação sobre a intensidade parasitária. Os resultados sugerem que a aspersão do anestésico não interferiu na motilidade, morfologia, superfície corporal e integridade do parasita, analisadas pelo método de fluorescência. A intensidade de monogenéticos nas brânquias foi menor nos peixes anestesiados pelo método de imersão em comparação com o método de aspersão e o grupo controle. O método de anestesia por aspersão nas brânquias pode ser utilizado em estudos parasitológicos.

Anesthesia by sprinkling method in the gills of tambaqui Colossoma macropomum does not influence intensity and morphology of monogeneans.

The present study evaluates the influence of anesthesia on the parasitic fauna of monogenea fish parasites, as its intensity and viability. Two experiments were conducted: Evaluation of an anesthetic method by sprinkling eugenol directly on gills and evaluation of monogenea motility and viability; Comparison of immersion and directly sprinkling on the gills with benzocaine and eugenol followed by evaluation on parasite intensity. The results suggest that the anesthetic sprinkling didn't interfere in the parasite motility, morphology and body surface integrity analyzed by fluorescence method. The monogenean intensity in the gills was lower in fish anesthetized by immersion method compared to the sprinkling method and the control group. This method of anesthesia can be used in parasitological studies.

Removal of Giardia spp. and Cryptosporidium spp. from water supply with high turbidity: analytical challenges and perspectives.

Giardia and Cryptosporidium species are a serious problem if present in water supplies. The removal of these protozoans and the adaptation of existing protocols are essential for supplying drinking water to developing countries. Considering this, the aim of this study is to evaluate, on a bench level, the removal of Giardia spp. cysts and of Cryptosporidium spp. oocysts from water with high turbidity, using polyaluminium chloride as a coagulant. Filtration using mixed cellulose ester membranes, followed, or not, by purification through immunomagnetic separation (IMS) was used for detecting protozoans. By evaluating the adopted protocol, without using IMS, retrievals of 80% of cysts and 5% of oocysts were obtained, whereas by using IMS, recoveries of 31.5% of cysts and 5.75% of oocysts were reached. When analyzing the coagulant performance, a dosage of 65 mg L(-1) showed contamination from protozoans in all the samples of filtered water. A dosage of 25 mg L(-1) presented protozoans in 50% of the filtered water samples. The results showed an improved performance for the 25 mg L(-1) dosage; therefore, the control of coagulation and adaptation of detection protocols must be evaluated according to the features of raw water and availability of local resources.

Combined therapy with m-TOR-dependent and -independent autophagy inducers causes neurotoxicity in a mouse model of Machado-Joseph disease.

A major pathological hallmark in several neurodegenerative disorders, like polyglutamine disorders (polyQ), including Machado-Joseph disease (MJD), is the formation of protein aggregates. MJD is caused by a CAG repeat expansion in the ATXN3 gene, resulting in an abnormal protein, which is prone to misfolding and forms cytoplasmic and nuclear aggregates within neurons, ultimately inducing neurodegeneration. Treatment of proteinopathies with drugs that up-regulate autophagy has shown promising results in models of polyQ diseases. Temsirolimus (CCI-779) inhibits the mammalian target of rapamycin (m-TOR), while lithium chloride (LiCl) acts by inhibiting inositol monophosphatase, both being able to induce autophagy. We have previously shown that chronic treatment with LiCl (10.4 mg/kg) had limited effects in a transgenic MJD mouse model. Also, others have shown that CCI-779 had mild positive effects in a different mouse model of the disease. It has been suggested that the combination of mTOR-dependent and -independent autophagy inducers could be a more effective therapeutic approach. To further explore this avenue toward therapy, we treated CMVMJD135 transgenic mice with a conjugation of CCI-779 and LiCl, both at concentrations known to induce autophagy and not to be toxic. Surprisingly, this combined treatment proved to be deleterious to both wild-type (wt) and transgenic animals, failing to rescue their neurological symptoms and actually exerting neurotoxic effects. These results highlight the possible dangers of manipulating autophagy in the nervous system and suggest that a better understanding of the potential disruption in the autophagy pathway in MJD is required before successful long-term autophagy modulating therapies can be developed.

Institutionalization and indiscriminate social behavior: Differential-susceptibility versus diathesis-stress models for the 5-HTTLPR and BDNF genotypes.

Institutionalization adversely impacts children's emotional functioning, proving related to attachment disorders, perhaps most notably that involving indiscriminate behavior, the subject of this report. In seeking to extend work in this area, this research on gene X environment (GXE) interplay investigated whether the serotonin transporter (5-HTTLPR) and val66met Brain-Derived Neurotrophic Factor (BDNF) polymorphisms moderated the effect of institutional care on indiscriminate behavior in preschoolers. Eighty-five institutionalized and 135 home-reared Portuguese children were assessed using Disturbances of Attachment Interview (DAI). GXE results indicated that s/s homozygotes of the 5-HTTLPR gene displayed significantly higher levels of indiscriminate behavior than all other children if institutionalized, something not true of such children when family reared. These findings proved consistent with the diathesis-stress rather than differential-susceptibility model of person×environment interaction. BDNF proved unrelated to indiscriminate behavior. Results are discussed in relation to previous work on this subject of indiscriminate behavior, institutionalization and GXE interaction.

Enhanced transport of materials into enamel nanopores via electrokinetic flow.

The ability to infiltrate various molecules and resins into dental enamel is highly desirable in dentistry, yet transporting materials into dental enamel is limited by the nanometric scale of their pores. Materials that cannot be infiltrated into enamel by diffusion/capillarity are often considered molecules with sizes above a critical threshold, which are often considered to be larger than the pores of enamel. We challenge this notion by reporting the use of electrokinetic flow to transport solutions with molecules with sizes above a critical threshold-namely, an aqueous solution with a high refractive index (Thoulet's solution) and a curable fluid resin infiltrant (without acid etching)-deep into the normal enamel layer. Volume infiltration by Thoulet's solution is increased by 5- to 6-fold, and resin infiltration depths as large as 600 to 2,000 µm were achieved, in contrast to ~10 µm resulting from diffusion/capillarity. Incubation with demineralization solution for 192 h resulted in significant demineralization at noninfiltrated histologic points but not at resin infiltrated. These results open new avenues for the transport of materials in dental enamel.

Should the first blood pressure reading be discarded?

We evaluated the consequences of excluding the first of three blood pressure (BP) readings in different settings: a random population sample (POS, n=1525), a general practice office (GPO, n=942) and a specialized hypertension center (SHC, n=462). Differences between systolic and diastolic BP (SBP and DBP) estimates obtained including and excluding the first reading were compared and their correlation with ambulatory BP monitoring (ABPM) was estimated. The samples were divided into quartiles according to the difference between the third and the first SBP (3-1ΔSBP). SBP decreased through sequential readings, 3-1ΔSBP was -5.5 ± 9.7 mm Hg (P<0.001), -5.1 ± 10.4 mm Hg (P<0.001) and -6.1 ± 9.3 mm Hg (P<0.001) for POS, GPO and SHC, respectively. However, individuals included in the top quartile of 3-1ΔSBP showed their highest values on the third reading. The mean SBP estimate was significantly higher excluding the first reading (P<0.001), but the differences among both approaches were small (1.5-1.6 mm g). Moreover, the correlation between SBP values including and excluding the first reading and daytime ABPM were comparable (r = 0.69 and 0.68, respectively). Similar results were observed for DBP. In conclusion, our study does not support the notion of discarding the first BP measurement and suggests that it should be measured repeatedly, regardless the first value.

Brazilian scientific production on herbal medicines used in dentistry / Produção científica brasileira sobre o uso de plantas medicinais na odontologia

The objective of this study was to critically analyze the scientific production published in specialized Brazilian journals concerning the use of medicinal plants in dentistry. A literature review was carried out using an indirect documentation technique by means of a bibliographical study. Four examiners performed independent searches in Brazilian journals of medicinal plants indexed in the database SciELO (Brazilian Journal of Pharmacognosy; Brazilian Journal of Medicinal Plants; Brazilian Journal of Pharmaceutical Sciences; and Acta Botanica Brasilica) using the descriptors "herbal medicine/phytotherapy" or "medicinal plants" and "dentistry ". The articles published from 2002 to 2012 addressing the use of medicinal plants in dentistry were included and analyzed. The searches based on the descriptors and reading of abstracts, resulted in 155 articles. Of these, 44 were read in full and a total of 16 publications met the eligibility criteria and were selected. Laboratory studies predominated (10) and were limited to the evaluation of antimicrobial properties by means of tests for determining inhibitory, fungicidal and bactericidal concentrations. Three literature reviews and only one clinical trial with no blinding and randomization were found. It is highlighted the need for better methodological designs in the researches and greater production of clinical or in vivo studies.

O objetivo deste estudo foi analisar criticamente a produção científica acerca do uso de plantas medicinais em Odontologia nos periódicos brasileiros especializados. Realizou-se uma revisão da literatura, utilizando técnica de documentação indireta a partir de um estudo bibliográfico. Quatro pesquisadores procederam, de forma independente, uma busca nas revistas brasileiras de plantas medicinais indexadas na base de dados Scielo (Revista brasileira de farmacognosia; Revista brasileira de plantas medicinais; Brazilian journal of pharmaceutical sciences; Acta botânica. brasílica) utilizando como descritores "fitoterapia" ou "plantas medicinais" e "Odontologia". Os artigos publicados de 2002 a 2012 que envolveram o uso de plantas medicinais em Odontologia foram incluídos e analisados. A busca por descritores e leitura de resumos gerou 155 artigos, dos quais 44 foram lidos na íntegra, sendo selecionadas 16 publicações que se enquadraram aos critérios requeridos. Estudos laboratoriais foram majoritários (10), e limitaram-se em avaliar propriedades antimicrobianas através das concentrações inibitórias, fungicidas e bactericidas. Três foram revisões da literatura e apenas um ensaio clínico esteve presente, sendo o cegamento e a randomização ausentes. Evidenciou-se a necessidade de um melhor delineamento metodológico das pesquisas e de uma maior produção de estudos clínicos ou in vivo.

The rs5743836 polymorphism in TLR9 confers a population-based increased risk of non-Hodgkin lymphoma.

Non-Hodgkin lymphoma (NHL) has been associated with immunological defects, chronic inflammatory and autoimmune conditions. Given the link between immune dysfunction and NHL, genetic variants in toll-like receptors (TLRs) have been regarded as potential predictive factors of susceptibility to NHL. Adequate anti-tumoral responses are known to depend on TLR9 function, such that the use of its synthetic ligand is being targeted as a therapeutic strategy. We investigated the association between the functional rs5743836 polymorphism in the TLR9 promoter and risk for B-cell NHL and its major subtypes in three independent case-control association studies from Portugal (1160 controls, 797 patients), Italy (468 controls, 494 patients) and the US (972 controls, 868 patients). We found that the rs5743836 polymorphism was significantly overtransmitted in both Portuguese (odds ratio (OR), 1.85; P=7.3E-9) and Italian (OR, 1.84; P=6.0E-5) and not in the US cohort of NHL patients. Moreover, the increased transcriptional activity of TLR9 in mononuclear cells from patients harboring rs5743836 further supports a functional effect of this polymorphism on NHL susceptibility in a population-dependent manner.

Monoamine deficits in the brain of methyl-CpG binding protein 2 null mice suggest the involvement of the cerebral cortex in early stages of Rett syndrome.

Rett syndrome is a neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein 2 gene (MECP2). Several neural systems are affected in Rett, resulting in an autonomic dysfunction, a movement disorder with characteristic loss of locomotor abilities and profound cognitive impairments. A deregulation of monoamines has been detected in the brain and cerebrospinal fluid of both Rett patients and a Rett syndrome murine model, the Mecp2 knock-out mouse. Our goal was to characterize the onset and progression of motor dysfunction in Mecp2(tm1.1Bird) knock-out mice and the possible neurochemical alterations in different brain regions potentially playing a role in Rett-like pathophysiology, at two different time-points, at weaning (3 weeks old) and in young adults when overt symptoms are observed (8 weeks old). Our results revealed significant age- and region-dependent impairments in these modulatory neurotransmitter systems that correspond well with the motor phenotype observed in these mice. At 3 weeks of age, male Mecp2 knock-out mice exhibited ataxia and delayed motor initiation. At this stage, noradrenergic and serotonergic transmission was mainly altered in the prefrontal and motor cortices, whereas during disease progression the neurochemical changes were also observed in hippocampus and cerebellum. Our data suggest that the deregulation of norepinephrine and serotonin systems in brain regions that participate in motor control are involved in the pathophysiology of Rett syndrome motor phenotypes. Moreover, we highlight the contribution of cortical regions along with the brainstem to be in the origin of the pathology and the role of hippocampus and cerebellum in the progression of the disease rather than in its establishment.

Familial aggregation of maxillary lateral incisor agenesis.

In spite of recent developments, data regarding the genes responsible for the less severe forms of hypodontia are still scarce and controversial. This study addressed the hypothesis that agenesis of maxillary lateral incisors (MLIA) is a distinct type of hypodontia, by evaluating its familial aggregation and the occurrence of other types of ageneses or microdontia in probands' relatives. Sixty-two probands with MLIA were identified, and information was collected on 142 first-degree relatives. Relative risk (RR) was calculated and compared by re-assessment of data previously published for the Swedish, Utah, and Israeli populations, for the same trait. A RR of 15 was obtained in the Portuguese, 16 in the Swedish, 12 in Utah, and 5 in the Israeli population. Our results support a significant familial aggregation of MLIA, show that MLIA almost never segregates with other forms of agenesis, and suggest that microdontia of maxillary lateral incisors is part of the same phenotype.

Trastornos nutricionales y gastrointestinales en el síndrome de Rett: importancia de la intervención temprana / Nutrition and gastrointestinal disorders in Rett syndrome: importance of early intervention

Objetivos: Las dificultades alimentarias y los trastornos digestivos son frecuentes en pacientes con enfermedades neurológicas, como el síndrome de Rett (SR). Pueden alterar el crecimiento y ocasionar malnutrición. El objetivo del presente estudio fue caracterizar el estado nutricional y gastrointestinal de un grupo de niñas con SR y evaluar los beneficios de la intervención clínica. Pacientes y métodos: Sobre la base de un protocolo previamente diseñado, los autores procedieron a la evaluación nutricional y gastrointestinal de 25 niñas con SR con mutación identificada del gen MECP2. Se realizó una intervención individualizada y posteriormente se revaluaron 7 pacientes. Resultados: Se identificaron dificultades alimentarias en 11 pacientes (44%) y solamente una paciente era parcialmente independiente para la autoalimentación. El índice de masa corporal (IMC) fue inferior al P5 en el 40% de las pacientes. Los principales trastornos gastrointestinales fueron el estreñimiento (75%) y el reflujo gastroesofágico (RGE) (32%). La anemia ferropénica se identificó en el 12% de las pacientes y la deficiencia en hierro y ferritina fue baja en otro 12%. El 44% de las pacientes presentó hipocalcemia. Después de la intervención, todas las niñas revaluadas obtuvieron una mejoría del IMC, del estreñimiento y de los síntomas del RGE. Conclusiones: El tratamiento de los pacientes con SR necesita un equipo multidisciplinario que debe incluir a gastroenterólogos y a nutricionistas. La identificación precoz de trastornos nutricionales y digestivos y su tratamiento individualizado contribuyen a mejorar la calidad de vida de estos pacientes (AU)

Objectives: Feeding difficulties and digestive disturbances are common in patients with neurological disorders, particularly Rett syndrome. They may compromise weight and growth, often leading to malnutrition. The aim of the present study was to characterize the nutritional and gastrointestinal status of a group of children with Rett syndrome and to evaluate the benefits of clinical intervention. Patients and methods: Based on a previously designed protocol, the authors performed gastrointestinal and nutritional assessment of 25 girls with Rett syndrome with identified MECP2 mutation. Intervention was performed individually and a subsequent evaluation involved 7 patients. Results: Feeding problems were present in 11 patients (44%), and only one had partial self-feeding ability. Body mass index (BMI) was under the 5th percentile in 40%. Constipation (75%) and gastroesophageal reflux (32%) were the main gastrointestinal problems. Iron deficient anemia was present in 12% and iron deficiency/low ferritin in another 12%. Hypocalcemia occurred in 44%. After therapeutic intervention all the girls re-evaluated showed improvements in BMI, constipation and gastroesophageal reflux symptoms. Conclusions: Management of patients with Rett syndrome requires a multidisciplinary team that should include Gastroenterologists. Individually tailored feeding strategies are essential to provide adequate nutrition. Early identification of nutritional and gastrointestinal disturbances and their proper management contribute to the improvement in the quality of life of these patients (AU)

[Nutrition and gastrointestinal disorders in Rett syndrome: Importance of early intervention]. / Trastornos nutricionales y gastrointestinales en el síndrome de Rett: importancia de la intervención temprana.

OBJECTIVES: Feeding difficulties and digestive disturbances are common in patients with neurological disorders, particularly Rett syndrome. They may compromise weight and growth, often leading to malnutrition. The aim of the present study was to characterize the nutritional and gastrointestinal status of a group of children with Rett syndrome and to evaluate the benefits of clinical intervention. PATIENTS AND METHODS: Based on a previously designed protocol, the authors performed gastrointestinal and nutritional assessment of 25 girls with Rett syndrome with identified MECP2 mutation. Intervention was performed individually and a subsequent evaluation involved 7 patients. RESULTS: Feeding problems were present in 11 patients (44%), and only one had partial self-feeding ability. Body mass index (BMI) was under the 5th percentile in 40%. Constipation (75%) and gastroesophageal reflux (32%) were the main gastrointestinal problems. Iron deficient anemia was present in 12% and iron deficiency/low ferritin in another 12%. Hypocalcemia occurred in 44%. After therapeutic intervention all the girls re-evaluated showed improvements in BMI, constipation and gastroesophageal reflux symptoms. CONCLUSIONS: Management of patients with Rett syndrome requires a multidisciplinary team that should include Gastroenterologists. Individually tailored feeding strategies are essential to provide adequate nutrition. Early identification of nutritional and gastrointestinal disturbances and their proper management contribute to the improvement in the quality of life of these patients.

C-reactive protein in acute coronary syndrome: association with 3-year outcomes

Inflammatory markers have been associated with clinical outcome in patients with acute coronary syndrome (ACS). The present study evaluated the role of high-sensitivity C-reactive protein (CRP) measurements as a predictor of late cardiovascular outcomes after ACS. One hundred and ninety-nine ACS patients in a Coronary Care Unit from March to November 2002 were included and were reassessed clinically after ~3 years. Clinical variables and CRP levels were evaluated as predictors of major cardiovascular events (MACE, defined as the occurrence of cardiac death, ischemic stroke or myocardial infarction) and mortality. Statistical analyses included Cox multivariable analysis and survival curves (Kaplan-Meier). Of the 199 patients, 11 died within 1 month (5.5 percent). Of the 188 remaining patients, 22 died after a mean follow-up of 2.9 ± 0.5 years. Baseline CRP levels for patients with MACE (N = 57) were significantly higher than those of patients with no events (median = 0.67 mg/L; 25th-75th percentiles = 0.32 and 1.99 mg/L vs median = 0.45 mg/L; 25th-75th percentiles = 0.24 and 0.83 mg/L; P < 0.001). Patients with CRP levels >3 mg/L had a significantly lower survival than the other two groups (1-3 and <1 mg/L; P = 0.001, log-rank test). The odds ratio for MACE was 7.41 (2.03-27.09) for patients with CRP >3 mg/L compared with those with CRP <1 mg/L. For death by any cause, the hazard ratio was 4.58 (1.93-10.86). High CRP levels predicted worse long-term outcomes (MACE and death by any cause) in patients with ACS.

C-reactive protein in acute coronary syndrome: association with 3-year outcomes.

Inflammatory markers have been associated with clinical outcome in patients with acute coronary syndrome (ACS). The present study evaluated the role of high-sensitivity C-reactive protein (CRP) measurements as a predictor of late cardiovascular outcomes after ACS. One hundred and ninety-nine ACS patients in a Coronary Care Unit from March to November 2002 were included and were reassessed clinically after approximately 3 years. Clinical variables and CRP levels were evaluated as predictors of major cardiovascular events (MACE, defined as the occurrence of cardiac death, ischemic stroke or myocardial infarction) and mortality. Statistical analyses included Cox multivariable analysis and survival curves (Kaplan-Meier). Of the 199 patients, 11 died within 1 month (5.5%). Of the 188 remaining patients, 22 died after a mean follow-up of 2.9 +/- 0.5 years. Baseline CRP levels for patients with MACE (N = 57) were significantly higher than those of patients with no events (median = 0.67 mg/L; 25th-75th percentiles = 0.32 and 1.99 mg/L vs median = 0.45 mg/L; 25th-75th percentiles = 0.24 and 0.83 mg/L; P < 0.001). Patients with CRP levels >3 mg/L had a significantly lower survival than the other two groups (1-3 and <1 mg/L; P = 0.001, log-rank test). The odds ratio for MACE was 7.41 (2.03-27.09) for patients with CRP >3 mg/L compared with those with CRP <1 mg/L. For death by any cause, the hazard ratio was 4.58 (1.93-10.86). High CRP levels predicted worse long-term outcomes (MACE and death by any cause) in patients with ACS.

Developmental disturbances associated with agenesis of the permanent maxillary lateral incisor.

The aim of this study was to characterise the intra and extra-oral phenotype associated with agenesis of the permanent maxillary lateral incisor. We compared three groups: (1) subjects with agenesis of one or both permanent maxillary lateral incisors (n=80); (2) first and second degree relatives of group 1 with no agenesis of the permanent maxillary lateral incisor and (3) subjects with no agenesis of the maxillary lateral incisor or family history of it (n=49). For each of the 201 subjects detailed clinical information was reviewed and panoramic radiographs were analysed. Considering only the sample with unilateral agenesis, microdontia of the contralateral permanent maxillary lateral incisor was significantly more frequent in group 1 (82.4%) than in group 2 (25%) and the control group (2%). This supports the theory that microdontia is a variable expression of the same developmental disturbance that causes tooth agenesis. The absence of third molars occurred more often in group 1 (36.2%) than in groups 2 and 3 (18.6% and 18.9% respectively), confirming that agenesis of third molars was markedly associated with the agenesis of the permanent maxillary lateral incisor. Agenesis of teeth other than third molars was not significantly different among subjects with agenesis of the permanent maxillary lateral incisor and their relatives. The frequencies of supernumerary teeth, permanent maxillary canine impaction, general health condition and minor anomalies were not significantly different between the three groups.