Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study.

BACKGROUND AND PURPOSE: BSCL2 heterozygote mutations are a common cause of distal hereditary motor neuropathies (dHMNs). A series of BSCL2 patients is presented and clinical, neurophysiological and muscle magnetic resonance imaging (MRI) findings are correlated. METHODS: Twenty-six patients from five families carrying the p.N88S mutation were identified. Age of onset, clinical phenotype (dHMN, Charcot-Marie-Tooth, spastic paraplegia), physical examination, disability measured as a modified Rankin Scale score and neurophysiological findings were collected. A whole body muscle MRI had been performed in 18 patients. The pattern of muscle involvement on T1-weighted and short time inversion recovery sequences was analysed. Hierarchical analysis using heatmaps and an MRI Composite Score were generated. Statistical analysis was carried out with STATA SE v.15 (TX, USA). RESULTS: The mean age was 51.54 ± 19.94 years and 14 patients were men. dHMN was the most common phenotype (50%) and five patients (19.23%) showed no findings on examination. Disease onset was commonly in childhood and disability was low (modified Rankin Scale score 1.34 ± 1.13) although median time since onset of disease was 32 years (range 10-47). Charcot-Marie-Tooth-like patients were more disabled and disability correlated with age. On muscle MRI, thenar eminence, soleus and tibialis anterior were most frequently involved, irrespective of clinical phenotype. MRI Composite Score was strongly correlated with disability. CONCLUSION: Patients with the p.N88S BSCL2 gene mutation are phenotypically variable, although dHMN is most frequent and generally slowly progressive. Muscle MRI pattern is consistent regardless of phenotype and correlates with disease severity, probably serving as a reliable outcome measure for future clinical trials.

A two-sludge system for simultaneous biological C, N and P removal via the nitrite pathway.

Nitrogen removal via the nitrite pathway results in significant savings in both aeration costs and COD requirements for denitrification when compared to the conventional biological nitrogen removal process. Implementation of the nitrite pathway for simultaneous C/N/P removal in a single sludge system has a major drawback: the aeration phase disfavours denitrifying phosphorus removal. A possible configuration to overcome this issue is the utilisation of a two-sludge system where autotrophic and heterotrophic populations are physically separated. This paper experimentally demonstrates the feasibility of a nitrite-based two-sludge system with sequencing batch reactors (SBR) for the treatment of urban wastewater: a heterotrophic SBR with denitrifying PAOs for P removal and an aerobic SBR for N removal. Partial nitrification was attained in the autotrophic SBR so that shortcut biological nitrogen removal was achieved by using the anoxic dephosphatation activity of DPAOs. Finally, the effect of operating this system without pH control was studied using different influent pH values (pH = 6.8, 7.5 and 8.2) and, despite some efficiency lost due to the pH fluctuations, the system was able to remove most of the C, N and P present in the wastewater.

Modelling and simulation revealing mechanisms likely responsible for achieving the nitrite pathway through aeration control.

Nitrogen removal via nitrite has recently gained a lot of interest because it results in significant savings in both aeration costs and COD (chemical oxygen demand) requirements for denitrification, when compared to the conventional biological nitrogen removal via nitrate. The effectiveness of two different control strategies to achieve the nitrite pathway in systems with sludge retention has been experimentally demonstrated: (i) control of aerobic phase length, with which aeration is terminated as soon as ammonia is completely oxidised; (ii) operation at low DO setpoints in the aerobic phase. These strategies have been extensively studied in nitrifying reactors and are currently applied in real systems achieving biological carbon, nitrogen and phosphorus removal. In this work, we aim to demonstrate, through modelling and simulation, that the competition between nitrite reducers and nitrite oxidisers for nitrite, rather than kinetic selection plays a major role in NOB washout. Moreover, the results show that the occurrence of simultaneous nitrification and denitrification under "aerobic" conditions is very helpful for the nitrite pathway obtainment and for a more efficient COD utilisation.

Impact of nitrate addition on biofilm properties and activities in rising main sewers.

Anaerobic sewer biofilm is a composite of many different microbial populations, including sulfate reducing bacteria (SRB), methanogens and heterotrophic bacteria. Nitrate addition to sewers in an attempt to control hydrogen sulfide concentrations affects the behaviour of these populations, which in turn impacts on wastewater characteristics. Experiments were carried out on a laboratory reactor system simulating a rising main to determine the impact of nitrate addition on the microbial activities of anaerobic sewer biofilm. Nitrate was added to the start of the rising main during sewage pump cycles at a concentration of 30 mg-N L(-1) for over 5 months. While it reduced sulfide levels at the outlet of the system by 66%, nitrate was not toxic or inhibitory to SRB activity and did not affect the dominant SRB populations in the biofilm. Long-term nitrate addition in fact stimulated additional SRB activity in downstream biofilm. Nitrate addition also stimulated the activity of nitrate reducing, sulfide oxidizing bacteria that appeared to be primarily responsible for the prevention of sulfide build up in the wastewater in the presence of nitrate. A short adaptation period of three to four nitrate exposure events (approximately 10 h) was required to stimulate biological sulfide oxidation, beyond which no sulfide accumulation was observed under anoxic conditions. Nitrate addition effectively controlled methane concentrations in the wastewater. The nitrate uptake rate of the biofilm increased with repeated exposure to nitrate, which in turn increased the consumption of biodegradable COD in the wastewater. These results provide a comprehensive understanding of the impact of nitrate addition on wastewater composition and sewer biofilm microbial activities, which will facilitate optimization of nitrate dosing for effective sulfide control in rising main sewers.

On-line titrimetric monitoring of anaerobic-anoxic EBPR processes.

Denitrifying phosphorus accumulating organisms (DPAO) are able to remove nitrogen and phosphorus simultaneously. The use of DPAO in EBPR systems results in a substantial saving on aeration cost and a lower sludge production when compared to anaerobic-aerobic EBPR systems. This process is usually studied in sequencing batch reactors (SBR) and monitored with off-line measurements. However, off-line monitoring implies low frequency data sampling and delay between sampling and obtainment of the results. For this reason, an online measurement such as titrimetry is strongly recommended to improve the daily management of the lab-scale SBR. This paper shows different applications of titrimetric measurements for on-line monitoring of DPAO lab-scale SBR cycles. The results demonstrate that titrimetry is a suitable tool for detecting the end of phosphorus release and carbon substrate depletion point in the anaerobic phase. Moreover, this paper proposes the indirect measurement of nitrate/nitrite uptake rate with titrimetric measurements, which allows the on-line estimation of its concentration during the anoxic phase. Therefore, titrimetry is an on-line measurement with a high potential to implement new control strategies in DPAO lab-scale SBR systems.

Observation and mathematical description of the acceleration phenomenon in batch respirograms associated with ammonium oxidation.

Two-step nitrification models are generally calibrated using short-term respirometric batch experiments. Important discrepancies appear between model predictions and experimental observations just after the pulse addition since a fast transient in the OUR profile is experimentally observed. Acceleration of the OUR appears ongoing between the substrate addition and attainment of the maximum OUR value. Among the several phenomena that could contribute to this observation, the most probable cause is the limitation of reducing equivalents required for maximal ammonia monooxygenase activity at the time of substrate addition. Ignoring acceleration would result in large parameter estimation errors from respirometric batch experiments. This work proposes a simple methodology to successfully describe (not to explain) the acceleration phenomenon estimating only two parameters. This methodology consists of introducing a Gaussian-like expression in the model.

Improving the start-up of an EBPR system using OUR to control the aerobic phase length: a simulation study.

The enhanced biological phosphorus removal (EBPR) process is based on enriching the sludge with polyphosphate accumulating organisms (PAO) which are scarce in conventional non-EBPR wastewater treatment plant sludge. Hence, the start-up of EBPR systems (i.e. enriching the sludge with PAO) can be very slow and complex. A simulation study of a possible improvement of the start-up of an EBPR system in a sequencing batch reactor is presented in this work. The improvement is based on reducing the length of the aerobic phase so that it coincides with the depletion of orthophosphate from the medium. This improvement, though verified by simulation to be very successful, requires a good on-line orthophosphate sensor. To avoid this technical limitation, a link between oxygen uptake rate (OUR) measurements and orthophosphate presence is proposed. This link allows the control of the aerobic phase length with OUR as a measured variable and, consequently, a considerable improvement with respect to the conventional fixed aerobic phase length operation. An improvement of 95% in the ratio of PAO to heterotrophs and an increase of 30% in the final amount of PAO in sludge is achieved with this control strategy. The kinetic mod for simulations was a modification of the Activated Sludge Model 2d.

Limitations of ASM1 and ASM3: a comparison based on batch oxygen uptake rate profiles from different full-scale wastewater treatment plants.

The two most popular models for the description of the biological COD removal are ASM1 and ASM3. However, some numerical inconsistencies arise when using these models to interpret the data obtained in short-term respirometric batch experiments. In this study, both models are fitted to four different respirometric batch profiles obtained with biomass from different WWTP. The parameter estimation results and the practical (local) identifiability are analysed, and the limitations of both models are discussed. The growth yield obtained by fitting ASM1 to the short-term respirometric batch profiles is higher than the default one, as well as the storage yield obtained by fitting ASM3 is lower than the default one. Based on these values, possible improvements to the modelling of the biological COD removal, such as the inclusion of simultaneous growth and storage on external substrate, are proposed.

Experiencia con radioterapia externa y sobreimpresión con braquiterapia HDR y LDR en el tratamiento del cáncer de próstata / No disponible

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Enhanced biological phosphorus removal in a sequencing batch reactor using propionate as the sole carbon source.

An enhanced biological phosphorus removal (EBPR) system was developed in a sequencing batch reactor (SBR) using propionate as the sole carbon source. The microbial community was followed using fluorescence in situ hybridization (FISH) techniques and Candidatus 'Accumulibacter phosphatis' were quantified from the start up of the reactor until steady state. A series of SBR cycle studies was performed when 55% of the SBR biomass was Accumulibacter, a confirmed polyphosphate accumulating organism (PAO) and when Candidatus 'Competibacter phosphatis', a confirmed glycogen-accumulating organism (GAO), was essentially undetectable. These experiments evaluated two different carbon sources (propionate and acetate), and in every case, two different P-release rates were detected. The highest rate took place while there was volatile fatty acid (VFA) in the mixed liquor, and after the VFA was depleted a second P-release rate was observed. This second rate was very similar to the one detected in experiments performed without added VFA.A kinetic and stoichiometric model developed as a modification of Activated Sludge Model 2 (ASM2) including glycogen economy, was fitted to the experimental profiles. The validation and calibration of this model was carried out with the cycle study experiments performed using both VFAs. The effect of pH from 6.5 to 8.0 on anaerobic P-release and VFA-uptake and aerobic P-uptake was also studied using propionate. The optimal overall working pH was around 7.5. This is the first study of the microbial community involved in EBPR developed with propionate as a sole carbon source along with detailed process performance investigations of the propionate-utilizing PAOs.

An off-line respirometric procedure to determine inhibition and toxicity of biodegradable compounds in biomass from an industrial WWTP.

Determining whether a certain compound is toxic (or inhibitor) or not to a biomass of a WWTP is crucial in order to avoid WWTP malfunction. Respirometric techniques have been commonly used to assess the toxicity of a certain compound by evaluating the oxygen uptake rate (OUR) profile obtained when a pulse of substrate is added to endogenous biomass and comparing it with the OUR profile obtained when the pulse is a mixture of substrate and the possible toxic or inhibitor (PTI). However, when using this method with biodegradable compounds some difficulties arise because the PTI consumption implies oxygen consumption as well. In this study, a modified procedure for toxicity assessment using respirometry is developed which overcomes the difficulties caused by the toxic biodegradability. This procedure is based on the comparison of different respirograms obtained with pulses of control substrate before and after adding the PTI and with a pulse of PTI and control substrate together. Moreover, some examples are shown with p-phenylenediamine and phenol as an example of toxic and inhibitor for nitrifying biomass.