Crescentic glomerulonephritis due to linear IgA anti-glomerular basement membrane disease: report of a rare case.

Anti-glomerular basement membrane (GBM) disease is a rare and severe vasculitis that affects the glomerular and pulmonary capillaries and has an incidence of less than 2 cases per million individuals per year. Anti-GBM disease is mediated by autoantibodies against the α3 chain of type IV collagen. In the majority of cases, the autoantibodies are of the immunoglobulin G (IgG) class, with rare cases being mediated by immunoglobulin M (IgM) or immunoglobulin A (IgA); there are less than 15 IgA-mediated cases reported in the literature worldwide. The classic form of this disease manifests with rapidly progressive glomerulonephritis (RPGN), with or without pulmonary hemorrhage, and the diagnosis consists of identifying high titers of autoantibodies in the serum and/or deposited in the tissues. IgA antibodies are not identified in routine immunoassay tests, and renal biopsy with immunofluorescence is essential for diagnosis. We present a case of RPGN due to anti-GBM disease with linear IgA deposition, whose diagnosis was made exclusively by renal biopsy and with an unfavorable prognosis.

Crescentic glomerulonephritis due to linear IgA anti-glomerular basement membrane disease: report of a rare case

Anti-glomerular basement membrane (GBM) disease is a rare and severe vasculitis that affects the glomerular and pulmonary capillaries and has an incidence of less than 2 cases per million individuals per year. Anti-GBM disease is mediated by autoantibodies against the α3 chain of type IV collagen. In the majority of cases, the autoantibodies are of the immunoglobulin G (IgG) class, with rare cases being mediated by immunoglobulin M (IgM) or immunoglobulin A (IgA); there are less than 15 IgA-mediated cases reported in the literature worldwide. The classic form of this disease manifests with rapidly progressive glomerulonephritis (RPGN), with or without pulmonary hemorrhage, and the diagnosis consists of identifying high titers of autoantibodies in the serum and/or deposited in the tissues. IgA antibodies are not identified in routine immunoassay tests, and renal biopsy with immunofluorescence is essential for diagnosis. We present a case of RPGN due to anti-GBM disease with linear IgA deposition, whose diagnosis was made exclusively by renal biopsy and with an unfavorable prognosis.

The "Sniffin' Kids-PT" test: A smell test variant for Portuguese children.

OBJECTIVE: Olfactory tests tailored for children are essential, as diagnosing olfactory dysfunction at these ages can be challenging. The 16-item "Sniffin' Sticks" is reliable and easy to perform. To the best of our knowledge, there is currently no validated olfactory test for the Portuguese pediatric population. This study aimed to adapt and validate the "Sniffin' Sticks" olfactory test for the Portuguese pediatric population. METHODS: Between August 2020 and September 2021, 354 children aged between 6 and 17years old enrolled in the study, 336 healthy children with a normal sense of smell, and 18 anosmic children with Kallmann syndrome. The study consisted of two parts. Firstly, the "Sniffin' Sticks" olfactory identification test was applied to healthy children and the odors with statistically significant low identification rates were excluded. A modified version of "Sniffin' Sticks" was defined and named "Sniffin' Kids-PT" test. Secondly, normative data were assessed and test-retest and validation tests were performed. RESULTS: Apple and Cloves odors were identified with a low rate and were excluded from the "Sniffin' Sticks" olfactory test. In the modified 14-item "Sniffin' Kids-PT", scoring <6 (from 6-8years old), <7 (from 9-11years old) or <8 (from 12-14years old and 15-17years old) was indicative of olfactory dysfunction. The test-retest reliability was good (r=0.81; P<0.001) and the differences between scores of healthy children and anosmic children were statistically significant (U213=13.00; P<0.001). CONCLUSION: The modified "Sniffin' Kids-PT" is a reliable test to discriminate between normosmia and olfactory dysfunction in Portuguese children over 5years old.

Assessing the effects of PMM2 variants on protein stability.

Phosphomannomutase 2 deficiency, PMM2-CDG, is the most frequent disorder of protein N-glycosylation. It is an autosomal recessive disease with a broad clinical and biochemical phenotype. Trying to predict the impact of novel variants is often a challenge due to the high number of variants and the difficulty to establish solid genotype-phenotype correlations. A potential useful strategy is to use computational chemistry calculations as a tool from which relevant information on the structural impact of novel variants may be deduced. Here we present our analyses based on four well-known PMM2 deleterious variants (p.(Leu32Arg), p.(Asp65Tyr), p.(Phe119Leu), p.(Arg141His)) and the polymorphic p.(Glu197Ala) for which we have predicted the effect on protein stability. Our work predicts the effect of different amino acid residues on the conformation and stability of PMM2. These computational simulations are, therefore, an extremely useful methodology which, in combination with routinely used in silico methods of pathogenicity prediction, may help to reveal the structural impact of novel variants at the protein level, potentially leading to a better understanding of target biological molecules.

A microparticle blood analogue suspension matching blood rheology.

The handling of blood in vitro is demanding because of ethical, economical and safety issues. Although several Newtonian and non-Newtonian blood analogues are found in the literature, few studies have used particles to mimic red blood cells (RBCs) and built an analogue with similar rheological properties of blood. This work reports the development of a blood analogue suspension composed of polydimethylsiloxane (PDMS) microparticles with an average diameter of ∼7 µm. High throughput production of PDMS particles is possible using a multi-stage membrane emulsification process; up to ∼6 mL of microparticles are manufactured in 3 hours. PDMS particles at a concentration of around 21% (w/w) at 20 °C present steady, oscillatory and extensional rheologies very similar to those of blood under physiological conditions (37 °C and ∼41% hematocrit), making them a good candidate whole blood analogue. Also, flow studies were performed in microchannels with contraction to study the cell-free layer (CFL) formation and particle deformation, achieving good qualitative results. Using the procedure developed, it is possible to obtain blood analogue fluids with a shelf life of at least 6 months.

Measurements of a 2.1 MeV H- beam with an Allison scanner.

Transverse 2D phase space distributions of a 2.1 MeV, 5 mA H- beam are measured at the Proton Improvement Plan II Injector Test accelerator at Fermilab with an Allison scanner. This paper describes the design, calibration, and performance of the scanner along with the main results from beam measurements. Analyses of the recorded phase portraits are performed primarily in action-phase coordinates. The stability of the action under linear optics makes it easier to compare measurements taken under different beamline conditions. The amplitude of a single measured point ("pixel") is proportional to the phase density in the corresponding portion of the beam. When the Twiss parameters are calculated using only the high-phase density part of the beam, the pixel amplitude in the beam core is found to be decreasing approximately exponentially with action and to be phase-independent. Outside of the core, the amplitudes decrease with action at a slower rate than in the core. This "tail" comprises 10%-30% of the beam, with 0.1% of the total measured intensity extending beyond action 10-20 times larger than the rms emittance. The transition from the core to the tail is accompanied by the appearance of two "branches" that are separated in phase and extend beyond the core. A set of selected measurements shows that there is no measurable emittance dilution along the beamline; the beam parameters are practically constant over a 0.5 ms pulse; and scraping in various parts of the beamline is an effective way to decrease the transverse tails by removing the branches.

Effectiveness of treat-and-extend versus pro re nata regimens in the treatment of Neovascular Age Macular Degeneration: A Real World Comparison. / Efectividad de los regímenes tratar y extender vs. pro re nata para el tratamiento de degeneración macular neovascular vinculada a la edad: una comparación en un entorno real.

PURPOSE: Evaluate and compare the visual and morphological results of Pro re nata (PRN) and treat-and-extend (T&E) treatment regimens at 3 years in real world clinical practice. METHODS: Retrospective study of patients with neovascular age macular degeneration (AMD) treated with anti-VEGF with 3 years of continuous follow-up and no previous anti-VEGF treatment. Best corrected visual acuity (BCVA), central foveal thickness (CFT) and number of intravitreal injections outcomes were tested for statistical differences between the two groups at baseline and during follow-up. RESULTS: A total of 240 eyes were included in the study, 170 in the PRN group and 70 in the T&E group. At 12 months, mean BCVA (ETDRS letters) gain from baseline was at its highest point in the T&E group (+6.38±13.32; p=0.25). In the PRN group, BCVA peaked at 3 months and slowly decreased until end of follow-up. With both regimens, from baseline, CFT continued to decrease until the second year (PRN -138.81 [-846.7 to +162.77] and T&E -81 [-604 to +100] µm, p=0.06). After that, T&E group maintained this tendency, reaching the lowest CFT value at 36 months, whereas PRN group showed an increased in CFT values (PRN -104 [-807.7 to +297] µm and T&E -103 [-575 to +244], µm p=0.63). Patients treated with T&E regimen received a significantly higher number of injections (PRN 16.3±7.6 vs T&E 23.9 ±9.4, p<0.01). CONCLUSION: Our results demonstrated a trend towards for T&E to achieve higher marks in BCVA, peaking at 12 months, and lower CFT thickness at the end of three years. Despite the higher number of injections performed in the T&E group the mean BCVA reverts to baseline values at 3 years.

Evaluation of different air dosing strategies to enhance H2S removal in microaerobic systems treating low-strength wastewaters.

This study aimed to evaluate different air dosing strategies such as microaeration flow rates and air dosing points to enhance H2S removal in microaerobic systems treating low-strength wastewaters. Efficiency and stability of the reactors, as well as biogas quality, were assessed, and microbial community changes were evaluated using the PCR-DGGE technique. The results showed that the air dosing point affected the H2S concentration and that air dosing at the headspace promoted the highest H2S removal efficiency. The airflow rate also affected the process, since H2S concentration in the biogas was higher at 0.1 mL air.min-1 than at 0.3 mL air.min-1. The methane concentration in the biogas was also affected by both air dosing point and flow rate, since the lowest value was observed at the highest airflow rate of the headspace dosing point, due to dilution by the N2 influx applied to the system. The highest productivity and operational efficiency were observed at this air dosing point, with this airflow (HD0.3), which corroborates with the operational results and the ecological parameters, since the microaeration at this stage promoted high bacterial and archaeal species richness and diversity, optimum functional organization, high COD and H2S removal efficiencies.

Synthesis of ceramic pigments from industrial wastes: Red mud and electroplating sludge.

The perception of industrial waste has changed, in the last decades, from an economic and environmental problem to a potential raw material. In this work, the synthesis of a stable pigment was prepared by combining two hazardous and unexplored wastes: red mud (RM, rich in Fe) and electroplating sludge (ES, rich in Ni/Cr). The wastes were mixed in different proportions and calcined at 1200 °C. Black and brown pigments were obtained from the mixture of RM/ES in 1:3 and 1:1 wt proportions, respectively. The color was given by the chrome-iron-nickel spinels, based on Ni2+ 3T1g(3F) transitions (≈13,000 cm-1), Cr3+ 4A2g → 4T1g(4F) transitions (≈24,400 cm-1) and Fe3+ (≈15,000-≈22,500 cm-1). The achieved coloring strength and thermal stability on various ceramic glazes render excellent prospects for the industrial application of such waste-based pigments.

Phenotypically divergent classification of preweaned heifer calves for feed efficiency indexes and their correlations with heat production and thermography.

The aims of this study were (1) to assess if there is phenotypical divergence for feed efficiency (FE) during the preweaning phase; (2) if FE is correlated with heat production (HP) measured by the face mask method or (3) by surface skin temperature via thermography, and (4) whether these methods are applicable to preweaned calves. Holstein × Gyr heifer calves (n = 36, birth body weight = 32.4 ± 6.6 kg) were enrolled and on trial between 4 and 12 wk of age and were classified into 2 residual feed intake (RFI) and residual body weight gain (RG) groups: high efficiency (HE; RFI, n = 10; and RG, n = 9) and low efficiency (LE; RFI, n = 10; and RG, n = 8). Calves were fed milk (6 L/d) and solid feed (95% starter and 5% chopped Tifton 85 hay, as fed). Growth was monitored weekly and feed intake (milk and solid feed) daily, during the whole period. Gas exchanges (O2 consumption and production of CO2 and CH4) were obtained using a face mask at 45 ± 5 d of age and HP was estimated. Maximum temperatures were measured at 7 sites with an infrared camera at 62 ± 7 d of age. There was divergence in RFI and RG. Respectively, HE and LE calves had RFI of -0.14 and 0.13 kg/d, and RG of 0.05 and -0.07 kg/d. Dry matter intake was 15% lower in HE-RFI compared with LE-RFI, but no differences were observed in average daily weight gain. Within the RG test, no differences were observed in dry matter intake or average daily gain. The HE-RFI calves consumed less O2 (L/d) and produced less CO2 (L/d). Heart rate and HP were lower for HE-RFI calves compared with LE-RFI. Residual feed intake was correlated with HP (r = 0.48), O2 consumption (r = 0.48), CO2 production (r = 0.48), and heart rate (r = 0.40). No differences were observed in HP and gas exchanges between RG groups. Methane production was null in both groups. Eye temperature measured by thermography was 0.5°C greater in HE-RG than LE-RG calves. Differences in skin temperature between HE and LE calves were not observed at the other sites. These results support the hypothesis that calves are divergent for RFI, RG, and FE during preweaning and divergence tests are applicable during this phase. The face mask method described here is a useful tool for estimating differences in HP among phenotypically divergent RFI calves. Eye temperature measured by infrared thermography may have potential to screen phenotypically divergent RG calves.

The influence of the morphological characteristics of nanoporous anodic aluminium oxide (AAO) structures on capacitive touch sensor performance: a biological application.

This work is devoted to the study of the influence of different anodic aluminium oxide (AAO) morphologies on the sensitivity and performance of an AAO-based capacitive touch sensor. The AAO structures were fabricated in a cylindrical homemade anodization cell made from a solid polycarbonate billet via a lathe machining process. The AAO morphologies were obtained from the anodization of Al foil by using three different types of electrolyte (sulphuric acid, oxalic acid and phosphoric acid) and their morphologies are reported and compared using scanning electron microscopy (SEM) micrographs and current-time characteristic curves. The sensors were fabricated by integrating the AAO structure with a nanotextured gold thin film deposited over the AAO layer by thermal evaporation, thus realizing a type of metal/insulator/metal parallel-plate capacitance sensor. It is demonstrated that AAO morphologies have influence on the performance of the AAO-based capacitive touch sensors. The variation of the capacitance of the sensors is investigated in this work for the AAO structures produced from anodization in an attempt to select anodizing conditions for a biological application aiming to detect small microorganisms such as bacterial colonies of Escherichia coli.

Coexistence of spondyloarthritis and joint hypermobility syndrome: rare or unknown association?

We report two cases of siblings presenting coexisting non-radiographic axial spondyloartrhritis and joint hypermobility syndrome, complaining of back pain with morning stiffness, enthesitis, peripheral arthralgia, high erythrocyte sedimentation rate and C-reactive protein level and positive HLA-B27. The association of these two conditions is rare, but especially interesting in view of their contrasting features, one causing axial skeleton stiffness, the other a wider range of peripheral joint movements. Coexistence of these two opposite disorders causes confusion in diagnosis and management, resulting in lower quality of life for patients, as they are in pain from the early stages. Therefore, this association is suspected in young individuals with back pain and physical exam findings of peripheral joint hypermobility and axial skeleton loss of mobility.

Artificial neural networks as auxiliary tools for the improvement of bean plant architecture.

Classification using a scale of visual notes is a strategy used to select erect bean plants in order to improve bean plant architectures. Use of morphological traits associated with the phenotypic expression of bean architecture in classification procedures may enhance selection. The objective of this study was to evaluate the potential of artificial neural networks (ANNs) as auxiliary tools in the improvement of bean plant architecture. Data from 19 lines were evaluated for 22 traits, in 2007 and 2009 winter crops. Hypocotyl diameter and plant height were selected for analysis through ANNs. For classification purposes, these lines were separated into two groups, determined by the plant architecture notes. The predictive ability of ANNs was evaluated according to two scenarios to predict the plant architecture - training with 2007 data and validating in 2009 data (scenario 1), and vice versa (scenario 2). For this, ANNs were trained and validated using data from replicates of the evaluated lines for hypocotyl diameter individually, or together with the mean height of plants in the plot. In each scenario, the use of data from replicates or line means was evaluated for prediction through previously trained and validated ANNs. In both scenarios, ANNs based on hypocotyl diameter and mean height of plants were superior, since the error rates obtained were lower than those obtained using hypocotyl diameter only. Lower apparent error rates were verified in both scenarios for prediction when data on the means of the evaluated traits were submitted to better trained and validated ANNs.

Episodic replacement of clotting factor concentrates does not prevent bleeding or musculoskeletal damage - the MUSFIH study.

PATIENTS AND METHODS: A longitudinal study was carried out in 255 children from 10 centres in nine developing countries over 5 years to assess the musculoskeletal outcome of children on episodic factor replacement. Outcome was documented by assessment of the annual joint bleeding rate (AJBR), WFH clinical and Pettersson radiological joint scores as well as the FISH score for activities. Of the 203 patients for whom data was available at the end of 5 years, 164 who had received only episodic treatment are included in this report. RESULTS: The median age at the beginning of the study was 10 years (IQR 7-12). The median clotting factor concentrate (CFC) usage was 662 IU kg-1 year-1 (IQ range: 280-1437). The median AJBR was 10 (IQ range: 5-17). The median AJBR was higher in the older children with the median being 5 for the 5 year old child, while it was 9 for the 10 year old and 11 for children older than 15. Given the episodic nature of the replacement therapy, those with a higher AJBR used significantly greater annual CFC doses (P < 0.001); The median change in WFH clinical score and Pettersson radiological score over the 5 years was 0.4/year for each, while the FISH deteriorated at a rate of 0.2/year with poor correlation of these changes with CFC dose. WFH and FISH scores were significantly worse in those with an AJBR of >3 per year (P = 0.001). The change in the Pettersson score was significantly more in those with an AJBR of >5 per year (P = 0.020). Significant changes in FISH scores were only noted after 10 years of age. CONCLUSION: Episodic CFC replacement over a large range of doses does not alter the natural course of bleeding in haemophilia or the musculoskeletal deterioration and should not be recommended as a long term option for treatment. Prophylaxis is the only way to preserve musculoskeletal function in haemophilia.

Comparing the burden of illness of haemophilia between resource-constrained and unconstrained countries: the São Paulo-Toronto Hemophilia Study.

INTRODUCTION: Although the regular replacement of clotting factor concentrates (prophylaxis) has been well established as the standard of care for severe haemophilia, the high cost of factor concentrates has limited access to prophylaxis in countries with under-developed or developing economies. AIMS: We studied the health gap that could be addressed by providing unlimited access to clotting factor concentrates with implementation of long-term prophylaxis initiated from an early age in life. METHODS: We performed a cross-sectional study of a random, representative sample of boys with moderate and severe haemophilia at three haemophilia treatment centres in Sao Paulo, Brazil, and one centre in Toronto, Canada. RESULTS: Canadian subjects were more often treated with prophylaxis, and began treatment at an earlier age. Fewer Canadian subjects had bleeds within the preceding 6 months (19 vs. 34, P = 0.003). Canadian subjects had lower (better) Pettersson radiographic scores (1.5 vs. 6.0, P = 0.0016), lower (better) Hemophilia Joint Health Scores (5.5 vs. 10.5, P = 0.0038), higher (better) Activity Scale for Kids scores (96.6 vs. 92.0, P = 0.033), more time spent in vigorous activity, and higher (better) social participation scores. CONCLUSIONS: Our findings suggest that increasing access to clotting factor concentrates for young boys with severe haemophilia is a global imperative.

Body Mass Index and Its Relationship with Disability, Chronic Diseases and Frailty in Older People: A Comparison of the Lipschitz and Who Classifications.

BACKGROUND: Anthropometric parameters are closely associated with the pathophysiology of frailty and with clinic and functional parameters assessed for its diagnosis. OBJECTIVE: To evaluate the possible association of the nutritional status of older people as assessed by Body Mass Index (BMI) and functional disability, self-reported chronic diseases and frailty, comparing the use of two different classifications of BMI. DESIGN: Cross-sectional study. SETTING: The sample was selected among community-dwelling older people from the city of Ribeirão Preto/ Brazil. PARTICIPANTS: 326 independent older people (mean age 73.8±6.4 years) who participated in the FIBRA (Frailty in Brazilian Older People) study. MEASUREMENTS: Weight and height were collected for BMI analysis and frailty criteria were applied according to Fried et al. Participants were also evaluated for self-reported activities of daily living (Katz Index and Lawton and Brody Scale), and the presence of chronic diseases. RESULTS: The prevalence of frailty was 12.3%. Regardless of the classification of BMI applied, most of the sample was classified as overweight (50.9% and 39.3% in the Lipschitz and WHO classifications, respectively). For both classifications, low weight was the only BMI classification associated with frailty status (OR Lipschitz: 4.12(1.53-11.14); OR WHO: 6.21 (1.26-30.58). Comorbidities and dependence in activities of daily living (ADLs) were associated with BMI ≥ 30kg.m2. CONCLUSION: Regardless of the classification adopted, low weight is associated with frailty. However, when the WHO stratification is employed, high BMI is also associated to increased functional disability and the presence of comorbidities, coexisting factors of frailty.

Joint lavage followed by viscosupplementation and triamcinolone in patients with severe haemophilic arthropathy: objective functional results.

INTRODUCTION: Viscosupplementation can improve function in haemophilia patients. Viscosupplementation results can be improved by prior joint lavage and triamcinolone administration. AIM: To objectively assess whether viscosupplementation and associated triamcinolone use in patients with severe haemophilic arthropathy following joint lavage improves force and balance and reduces bleeding events. METHODS: Fourteen patients with haemophilic knee arthritis with and without the involvement of other joints underwent joint lavage and subsequent injections of Hylan G-F20 and triamcinolone into all affected joints. Patients were evaluated with NeuroCom® force and balance platforms using the step-up-and-over task (STP), sit-to-stand test (STS), one-leg stance (UNI) and weight-bearing squat (WBS) at baseline and at 1, 3, 6 and 12 months after the procedure. Bleeding events in the year prior to and the year after the procedure were analysed. RESULTS: Sixteen knees, 15 ankles, eight elbows and one shoulder were treated. The STP results indicated improvements in the lift-up indices (right leg) at all time points evaluated (P = 0.03). The STS results revealed coupled improvement in weight transfer and the rising index for up to a year (P = 0.02). Balance (UNI) with eyes open or closed improved in all evaluations. The WBS results revealed improvements at all degrees of flexion (0, P = 0.003; 30°, P = 0.001; 60°, P < 0.001 and 90°, P < 0.001). The numbers of total and traumatic bleeding events were reduced (P = 0.04). CONCLUSION: Joint lavage followed by injections of triamcinolone and Hylan G-F20 improved balance, function and bleeding events in severe haemophilic arthropathy patients.