Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.

Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission. Mutations in the acetylcholinesterase (AChE) collagen-like tail subunit gene (COlQ) cause recessive forms of synaptic CMS with end plate AChE deficiency. We present data on 15 COLQ -mutant CMS carrying 16 different mutations (9 novel ones identified) followed-up for an average period of 10 ears. The mean age at the first examination was 19 ears old (range from 3 to 48). We report relapses during short or long-term periods characterized by worsening of muscle weakness sometimes associated with respiratory crises. All the relapses ended spontaneously or with 3-4 DAP or ephedrine with no residual impairment. The triggering factors identified were esterase inhibitors, effort, puberty or pregnancy highlighting the importance of hormonal factors. There was no genotype-phenotype correlation. At the end of the follow-up, 80% of patients were ambulant and 87% of patients had no respiratory trouble in spite of severe relapses.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort of 86 clinically defined patients with Kabuki syndrome (KS) for mutations in MLL2. All patients were assessed using a standardized phenotype list and all were scored using a newly developed clinical score list for KS (MLL2-Kabuki score 0-10). Sequencing of the full coding region and intron-exon boundaries of MLL2 identified a total of 45 likely pathogenic mutations (52%): 31 nonsense, 10 missense and four splice-site mutations, 34 of which were novel. In five additional patients, novel, i.e. non-dbSNP132 variants of clinically unknown relevance, were identified. Patients with likely pathogenic nonsense or missense MLL2 mutations were usually more severely affected (median 'MLL2-Kabuki score' of 6) as compared to the patients without MLL2 mutations (median 'MLL2-Kabuki score' of 5), a significant difference (p < 0.0014). Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat nasal tip with a broad nasal root, and a thin upper and a full lower lip were observed more often in mutation positive patients.

Effects of crop and weed densities on the interactions between barley and Lolium rigidum in several Mediterranean locations

The effects of both barley and Lolium rigidum densities on weed growth and spike production and on crop yield were examined in five field experiments carried out in the Mediterranean drylands of Spain and Western Australia. The aim was to check the consistency of the competitiveness of the crop in different environmental and management conditions. L. rigidum reduced barley yields in most of the experiments (between 0 and 85%), the number of ears per m2 being the most affected. It was found that increasing the barley seeding rate did not reduce the crop losses but did limit weed biomass (between 5 and 61%) and spike production (between 24 and 85%). The variability observed in crop yield losses between sites and seasons was related to rainfall at the beginning of the season. The most sensitive component of yield to weed competition was the number of ears per plant.

Does ear C sink strength contributes to the overcoming of photosynthetic acclimation of wheat plants exposed to elevated CO2?

Wheat plants (Triticum durum Desf., cv. Regallo) were grown in the field to study the effects of contrasting [CO2] conditions (700 versus 370 μmol mol−1) on growth, photosynthetic performance, and C management during the post-anthesis period. The aim was to test whether a restricted capacity of sink organs to utilize photosynthates drives a loss of photosynthetic capacity in elevated CO2. The ambient 13C/12C isotopic composition (δ13C) of air CO2 was changed from-10.2 in ambient [CO2] to-23.6 under elevated [CO2] between the 7th and the 14th days after anthesis in order to study C assimilation and partitioning between leaves and ears. Elevated [CO2] had no significant effect on biomass production and grain filling, and caused an accumulation of C compounds in leaves. This was accompanied by up-regulation of phosphoglycerate mutase and ATP synthase protein content, together with down-regulation of adenosine diphosphate glucose pyrophosphatase protein. Growth in elevated [CO2] negatively affected Rubisco and Rubisco activase protein content and induced photosynthetic down-regulation. CO2 enrichment caused a specific decrease in Rubisco content, together with decreases in the amino acid and total N content of leaves. The C labelling revealed that in flag leaves, part of the C fixed during grain filling was stored as starch and structural C compounds whereas the rest of the labelled C (mainly in the form of soluble sugars) was completely respired 48 h after the end of labelling. Although labelled C was not detected in the δ13C of ear total organic matter and respired CO2, soluble sugar δ13C revealed that a small amount of labelled C reached the ear. The 12CO2 labelling suggests that during the beginning of post-anthesis the ear did not contribute towards overcoming flag leaf carbohydrate accumulation, and this had a consequent effect on protein expression and photosynthetic acclimation.

Lexical Influences on Spoken Spondaic Word Recognition in Hearing-Impaired Patients.

Top-down contextual influences play a major part in speech understanding, especially in hearing-impaired patients with deteriorated auditory input. Those influences are most obvious in difficult listening situations, such as listening to sentences in noise but can also be observed at the word level under more favorable conditions, as in one of the most commonly used tasks in audiology, i.e., repeating isolated words in silence. This study aimed to explore the role of top-down contextual influences and their dependence on lexical factors and patient-specific factors using standard clinical linguistic material. Spondaic word perception was tested in 160 hearing-impaired patients aged 23-88 years with a four-frequency average pure-tone threshold ranging from 21 to 88 dB HL. Sixty spondaic words were randomly presented at a level adjusted to correspond to a speech perception score ranging between 40 and 70% of the performance intensity function obtained using monosyllabic words. Phoneme and whole-word recognition scores were used to calculate two context-influence indices (the j factor and the ratio of word scores to phonemic scores) and were correlated with linguistic factors, such as the phonological neighborhood density and several indices of word occurrence frequencies. Contextual influence was greater for spondaic words than in similar studies using monosyllabic words, with an overall j factor of 2.07 (SD = 0.5). For both indices, context use decreased with increasing hearing loss once the average hearing loss exceeded 55 dB HL. In right-handed patients, significantly greater context influence was observed for words presented in the right ears than for words presented in the left, especially in patients with many years of education. The correlations between raw word scores (and context influence indices) and word occurrence frequencies showed a significant age-dependent effect, with a stronger correlation between perception scores and word occurrence frequencies when the occurrence frequencies were based on the years corresponding to the patients' youth, showing a "historic" word frequency effect. This effect was still observed for patients with few years of formal education, but recent occurrence frequencies based on current word exposure had a stronger influence for those patients, especially for younger ones.

Animal sound : què se sent quan s’és una cabra?

Aquest projecte treballa sobre la possibilitat d'aplicar tècniques d'enregistrament binaural en animals, en concret, en una cabra domèstica. Mitjançant uns micròfons col·locats dins les seves orelles i una petita càmera de vídeo muntada sobre el seu cap, s'obté un material audiovisual que permet fer-se una idea aproximada de com és la seva percepció del món. En base a un estudi de cognició comparada, es pretén trobar maneres de transformar els enregistraments obtinguts per tal d'adaptar el marc psicoacústic humà al de l'animal. L'objectiu és que una persona pugui sentir com ho fa un animal, encara que sigui d'una manera aproximada. Els materials obtinguts al llarg dels enregistraments són el punt de partida per a la construcció de paisatges sonors i peces audiovisuals diverses. Així doncs, el treball s'inicia amb el disseny i construcció d'un micròfon binaural, continua amb enregistraments de camp en animals i acaba amb l'edició, el processat i la composició dels paisatges sonors finals.

Sheep poisoning by Panicum dichotomiflorum in northeastern Brazil

Different species of Panicum, including P. dichotomiflorum,have been reported as a cause of photosensitization in sheep, horses, cattle and goats. An outbreak of hepatogenous photosensitization occurred in 3 flocks of hair sheep in the Brazilian semiarid region. Eighty one out of 365 sheep were affected and 39 died. The main affected animals were nursing lambs and sheep younger than one year old. Donkeys, goats and cattle grazing in the same pasture were not affected. Clinical signs were edema of the head, followed by dermatitis, mainly in the face, ears, and croup, ocular discharge, corneal opacity with blindness, and redness of the coronary band and hoof. At necropsy of one affected lamb the liver was yellowish. Upon histologic examination scattered necrotic hepatocytes were observed in the liver and focal areas of necrosis of myocytes appeared in the heart. Samples of P. dicotomiflorum were analyzed by TLC and those containing saponins were isolated by HPLC using RP-C18 column and eluted with a mixture of MeOH and H2O. The isolated compounds were submitted to ¹H and 13C NMR spectroscopy. Reactions were positive to furostanol saponins with the same Rf of the standard protodioscin (0.21) and methylprotodioscin (0.32). The spectroscopic results indicated a mixture of (25R)- and (25S)-protodioscin isomers in a proportion of 3:1, and methylprotodioscin.

Facial paralysis and vestibular syndrome in feedlot cattle in Argentina

This paper reports 6 outbreaks of neurological disease associated with paralysis of the facial and vestibulocochlear nerves caused by intracranial space occupying lesions in feedlot cattle. The clinical signs observed were characterized by head tilt, uni or bilateral drooping and paralysis of the ears, eyelid ptosis, keratoconjunctivitis, and different degrees of ataxia. Morbidity and mortality rates ranged from 1.1 to 50% and 0 to 1%, respectively. Gross lesions observed included yellow, thickened leptomeninges, and marked enlargement of the roots of cranial nerves VII (facial) and VIII (vestibulocochlear). Histopathologically, there was severe, chronic, granulomatous meningitis and, in one case, chronic, granulomatous neuritis of the VII and VIII cranial nerves. Attempts to identify bacterial, viral, or parasitic agents were unsuccessful. Based on the morphologic lesions, the clinical condition was diagnosed as facial paralysis and vestibular syndrome associated with space occupying lesions in the meninges and the cranial nerves VII and VIII. Feedlot is a practice of growing diffusion in our country and this is a first report of outbreaks of facial paralysis and vestibular disease associated with space occupying lesions in Argentina.

Kokoelmallinen äänikäyntikortteja

Äänitaidearvostelu

Seneciosis in cattle associated with photosensitization

Senecio spp. poisoning is the main cause of cattle mortality in the central region of Rio Grande do Sul. This paper reports an outbreak of seneciosis in cattle with high prevalence of photosensitization, where 83 out of 162 cows (51.3%) presented this clinical sign. The outbreak occurred in September 2013, affecting adult cows that were held in a 205 hectare-pasture from April to October 2013 with abundant Senecio brasiliensis infestation. Main clinical signs were weight loss, excessive lacrimation or mucopurulent ocular discharge, nasal serous discharge, ventral diphteric glossitis, crusts in the nose, teats, dorsum of ears, and vulva. Liver biopsy was performed in all the cows under risk; the histopathological findings in the liver biopsies consisted of fibrosis, megalocytosis, and biliary ductal proliferation and were present in 73.4% of the biopsied animals. Six cows had increased serum activity of gamma glutamyl transferase. Three affected cows were necropsied. The main necropsy findings were a hard liver, distended gall bladder, edema of the mesentery and abomasum. Liver histological changes in the necropsied cows were similar to those of the biopsied livers. Spongiosis was detected in the brain of necropsied cows and is characteristic of hepatic encephalopathy.

Weed control and green ear yield in maize

The objective of this work was to evaluate the influence of weeding frequency on cultivar Centralmex green corn yield. Two experiments were conducted in Mossoró-RN (Brazil), with the use of sprinkler irrigation. A random block design with four replicates was used. It was observed that the total number and weight (TW) of unhusked green ears, the number and weight of marketable unhusked ears and the number and weight of marketable husked ears were reduced under no weeding treatment. The number timing of weedings did not influence green corn yield, except for one weeding at 60 DAP, which was equivalent to the "no weeding" treatment, for TW. When maize is marketed considering the total number of green ears, higher net income is obtained when one weeding is carried out 45 days after planting.

Effects of weed control through cowpea intercropping on mayze morphology and yield

Intercropping combined with competitive maize cultivars can reduce the use of herbicides to control weeds. The objective of this work was to evaluate the effects of intercropping cowpea and maize, as well as hand-weeding on maize morphology and yield. The experimental design was in randomized complete blocks, with treatments arranged in split-plots and five replications. The plots consisted of four maize cultivars (BA 8512, BA 9012, EX 4001, EX 6004) and the split-plots consisted of the following treatments: no-weeding; twice hand-weeding (20 and 40 days after sowing); and intercropping with cowpea ('Sempre Verde' cultivar), both maize and cowpea sown at the same time. The variables evaluated were: maize fresh green ears and grain yield; characteristics of internodes, leaves, tassels, ears, grains; plant height and ear insertion height; number of weed plants and species; fresh and dry biomass of weed species and cowpea. Ten weed species were outstanding during the experiment, many of them from the Poaceae family. No interactions were found between weed control method and maize cultivars for most variables evaluated; and plants from hand-weeded split-plots showed superior mean values compared to plants from non-weeded and intercropped split-plots, both not differing from each other. The cowpea was inefficient in controlling weed, reducing the maize yields and not producing any grain. The maize cultivars 'BA 8512' and 'BA 9012 showed the highest mean green ear yield, and the highest grain yield in hand-weeded, no-weeded and intercropped split-plots. On the other hand, the maize cultivar 'EX 6004' showed such high means only in no-weeded and intercropped split-plots. 'EX 4001 presented the worst means in these variables for hand-weeded, no-weeded ant intercropped split-plots.

Effect of cowpea intercropping on weed control and corn yieid

Herbicides have simplified weed control, but the use of herbicides, besides being costly, resulted in the selection of herbicide-resistant weed biotypes and has become an environmental contamination factor. Herbicide use reduction is one of the goals of modern agriculture, with several alternatives being investigated, including intercropping. The objective of this study was to evaluate the effects of cowpea and corn cultivar intercropping on weed control and corn green-ear (immature ears with 80% humidity grains) and grain yield. A completely randomized block design with split-plots and four replications was used. AG 1051, AG 2060 and PL 6880 corn cultivars (assigned to plots) were submitted to the four treatments: no weeding, two hoe-weeding (22 and 41 days after planting), and intercropping with cowpea (BR 14 and IPA 206 cultivars, with indeterminate growth). The cowpea was planted (with corn planting) between the corn rows, in pits 1.0 m apart, with two plants per pit. The corn cultivars did not differ from each other as to weed density (WD), fresh above-ground weed biomass (WB), green-ear yield and grain yields. Higher WD and WB mean values were found in no weeding subplots; lower mean values in two hoe-weeding subplots; and intermediate mean values in intercropped subplots, indicating that cowpea plants had, to a certain extent, control over weeds. The no-weeded plots and the intercropped plots had lower green-ear and grain yields. Although the cowpea cultivars had a certain control over weeds (mean reductions of 22.5 and 18.3%, in terms of green matter density and weight of the above-ground part of weeds, respectively), they also competed against the corn plants, leading to yield reduction (mean reductions of 17.0 and 32% in green ear and grain yield, respectively). The cowpea cultivars did not produce grain, certainly due to the strong competition exerted by the corn and weeds on cowpea plants.

Growth and yield of corn grain and green ear in competition with weeds

Studies on plant growth are interesting because they provide explanations for the factors that influence yield in various crops. The objective of this work was to evaluate growth and yield in corn cultivar AG1051, when in competition with weeds. Cultivar AG 1051 was submitted to two groups of treatments: weed control, and sampling periods for dry biomass evaluation. The weed control treatments consisted of hoeing (two hoeings performed at 20 and 40 days after sowing) and no hoeing. Sampling periods consisted of collecting the above-ground part and roots of corn every fifteen days, until 105 days after sowing (DAS); the first sampling was performed 30 DAS. A completely randomized block design with ten replicates was used. For the characteristics evaluated in a single season, statistical analyses were carried out as a random block experiment. For the characteristics evaluated in several periods, statistical analyses were carried out as random blocks with split-plots (weed control assigned to plots). Fourteen weed species, unevenly distributed throughout the experimental area, were the most important. The growth observed for the above-ground part and root system of corn was 30% smaller in the non-hoed plots, compared to the hoed plots. Lack of weed control increased dry matter of the above-ground part of the weeds and reduced the number of unhusked and husked marketable green ears by 23% and 49%, respectively. Grain yield reduction caused by lack of weed control reached 38%.

Planting density of gliricidia when intercropped with corn for weed control

Reduced use of herbicides that cause environmental pollution problems is of great interest in modern agriculture. Soil mulching with gliricidia (Gliricidia sepium) branches does not have an allelopathic effect on corn, but decreases weed populations. The objective of this study was to evaluate the effects of gliricidia planting density, when grown as an intercrop, on weed control and corn yield parameters. A randomized block design with split-plots and ten replicates was adopted. Corn cultivars AG 1051 and BM 3061 were grown without hoeing, with two hoes (at 24 and 44 days after planting), and intercropped with gliricidia (planted simultaneously with corn, between crop rows, using two seedlings/pit, spaced at 30, 40, or 50 cm). Twenty-one weed species were found in the experimental area. Increased gliricidia planting density reduced weed biomass, but no difference was found between weed biomass in the intercrop and weed biomass in non-hoed corn. Gliricidia intercropped with corn, planted at a row spacing of 30 cm, did not significantly differ from hoed corn in most characteristics considered to evaluate green corn yield, although mean values were smaller. As to the number and weight of marketable green ears, reductions of 5% and 13%, respectively, were observed. Intercropping caused a 17% reduction in grain yield, reducing the losses (36%) observed in non-hoed corn by more than 50%. The highest green ear yield and grain yield values were obtained with two hoeings, while the lowest values were observed for non-hoed corn. The cultivars did not differ regarding green ear yield and grain yield.