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the rectal wall, with spinal anaesthesia and avoiding the need for pneumorectum.The MEF2C gene encodes a transcription factor known to play a crucial role in molecular pathways affecting neuronal development. MEF2C mutations were described as a genetic cause of developmental disease (MRD20), and several reports sustain its involvement in dementia-related conditions, such as Alzheimer's disease and amyotrophic lateral sclerosis. These pathologies and frontotemporal degeneration (FTLD) are thought to share common physiopathological pathways. In this exploratory study, we searched for alterations in the DNA sequence of exons and boundaries, including 5'- and 3'-untranslated regions (5'UTR, 3'UTR), of MEF2C gene in 11 patients with clinical phenotypes related with MRD20 or FTLD. We identified a heterozygous deletion of 13 nucleotides in the 5'UTR region of a 69 years old FTLD patient. This alteration was absent in 200 healthy controls, suggesting a contribution to this patient's disease phenotype. In silico analysis of the mutated sequence indicated changes in mRNA secondary structure and stability, thus potentially affecting MEF2C protein levels. Furthermore, in vitro functional analysis of this mutation revealed that the presence of this deletion abolished the transcriptional activity of the gene in human embryonic cells and rat brain neurons, probably by modifying MEF2C expression. Altogether, our results provide evidence for the involvement of MEF2C in FTLD manifesting with seizures.

Enhanced muscle echo intensity (EI) with ultrasound imaging and a higher extracellular water-to-intracellular water (ECW/ICW) ratio with segmental-bioelectrical impedance spectroscopy (S-BIS) represent muscle quality loss. This study aimed to clarify quadriceps muscle degeneration characteristics, focusing on muscle quality changes in patients with knee osteoarthritis (OA).

Forty-one women with knee OA (mean age, 71.4±6.0 years) and 27 healthy women (mean age, 75.6±4.9 years) participated. Ultrasonography was used to evaluate the muscle thickness (MT) and the EI of each quadriceps compartment. learn more The ECW/ICW ratio was obtained by S-BIS. MT, EI, and ECW/ICW ratio differences between the two groups were tested using univariate analysis of variance, adjusting for age and body mass index. Logistic regression analyses were performed with the group as the dependent variable, and the MT and EI of the vastus medialis (VM) and the ECW/ICW ratio as independent variables.

Patients with knee OA had a significant decre enhanced EI and a higher ECW/ICW ratio are helpful clinical signs for detecting muscle degeneration in patients with knee OA. Key Points •Echo intensity (EI) of the vastus medialis and the extracellular-to-intracellular water (ECW/ICW) ratio significantly increased in patients with knee osteoarthritis OA). •Enhanced EI and a higher ECW/ICW ratio are useful clinical signs for detecting muscle degeneration in patients with knee OA.The co-occurrence of IgA nephropathy (IgAN) and positive anti-neutrophil cytoplasmic autoantibodies (ANCA) serology is uncommon. In the present case series and literature review, we aimed to clarify the impact of ANCA on pathogenesis, clinical and histopathology presentation, and outcome in IgAN patients. We report four patients with an overlap lesion of IgAN-ANCA positive. Also, we performed a narrative review of all biopsy-proven published case series. Only 1.2% patients had ANCA in our 330-biopsy-proven IgAN cohort. We compared our data with previous reports-6 case series and 3 small retrospective studies-a total of 103 patients. All patients but one had eGFR below 15 mL/min at diagnosis. Besides rapidly decreasing eGFR, all presented with proteinuria around 1.5 g/day and dysmorphic microhematuria, suggesting glomerular inflammation. Systemic symptoms suggestive for ANCA vasculitis were seen in half of our patients, but only one patient had hemorrhagic alveolitis. Patients from our cohort responded to the intensive immunosuppressive regimens used in ANCA-positive vasculitis with renal involvement. However, in the follow-up, one patient had a relapse followed by septic shock related to immunosuppression and one patient started hemodialysis. In the review, we found that IgAN-ANCA -positive patients are characterized by vasculitis-like lesions and clinically by a rapidly progressive decline in kidney function, which was reversed by an aggressive induction immunosuppressive protocol used in ANCA vasculitis. Checking ANCA serology seems useful in patients with rapidly progressive IgAN for therapeutic and prognostic reasons.

Since a case of hydrocephalus in humans considered to be caused by ciliary dysfunction was first reported by Greenstone et al. in 1984, numerous papers onthe correlation between ciliary function and hydrocephalus have been published.

We reviewed the published literature on primary ciliary dyskinesia inhumans causing hydrocephalus, focusing on articles specifically examining the relation between ciliary function and hydrocephalus and its treatment. In addition, theauthors' experience is briefly discussed.

Full texts of 16 articles reporting cases of human hydrocephalus (including ventriculomegaly) due to defects inependymal ciliary function or primary ciliary dyskinesia observed in clinical practice were extracted. In recent years, studies on animal models, especially employingknockout mice, have revealed genetic mutations that cause hydrocephalus via ciliary dysfunction. However, a few reports on the onset of hydrocephalus in humanpatients with primary ciliary dyskinesia have confirmed that the incidence of this condition was extremely low compared to that in animal models.

Inhumans, it is rare for hydrocephalus to develop solely because of abnormalities in the cilia, and it is highly likely that other factors are also involved along with ciliarydysfunction.

In humans, it is rare for hydrocephalus to develop solely because of abnormalities in the cilia, and it is highly likely that other factors are also involved along with ciliary dysfunction.

Lipases (EC 3.1.1.3) catalyze the hydrolysis of oil into free fatty acids and glycerol forming the 3rd largest group of commercialized enzymes. Plant lipases grab attention recently because of their specificity, less production and purified cost, and easy availability. In silico approach is the first step to identify different genes coding for lipase in a most common indigenous plant, wheat, to explore the possibility of this plant as an alternative source for commercial lipase production. As the hierarchy organization of genes reflects an ancient process of gene duplication and divergence, many of the theoretical and analytical tools of the phylogenetic systematics can be utilized for comparative genomic studies. Also, in addition to experimental identification and characterization of genes, for computational genomic analysis, Arabidopsis has become a popular strategy to identify crop genes which are economically important, as Arabidopsis genes had been well identified and characterized for lipase. link2 A numbelarity with the reported lipase gene of Oryza sativa. Homology modeling was performed using protein sequences coded by aforementioned genes and optimized by molecular dynamic simulations. Further with the help of molecular docking of modeled structures with tributyrin, binding efficiency was checked, and the difference in energies (DE) was -9.83 kcal/mol and -6.67 kcal/mol, respectively.

The present work provides a basic understanding of the gene-encoding lipase in wheat, which could be easily accessible and used as a potent industrial enzyme. The study enlightens another direction which can be used further to explore plant lipases.

The present work provides a basic understanding of the gene-encoding lipase in wheat, which could be easily accessible and used as a potent industrial enzyme. The study enlightens another direction which can be used further to explore plant lipases.

Open and minimally invasive tear duct surgery are among the common surgical indications; however, little is known so far about the respective influences on the quality of life.

The aim of this study was to compare the subjective influence on the quality of life of patients after open and minimally invasive surgical techniques for recanalization of dacryostenosis.

From the collective of patients who were surgically treated at the University Medical Center Hamburg-Eppendorf from 2015 to 2018, a total of 169 patients (111 dacryocystorhinostomy, DCR, 58endoscopy) took part in the survey and answered 9questions about subjective satisfaction, which were evaluated also comparatively.

When asked about postoperative satisfaction, the patients were significantly more satisfied after DCR (p = 0.001) than the patients who underwent alacrimal endoscopy. link3 There was no significant difference in terms of postoperative complications (p = 0.348). The rate of reoperations, however, was significantly higher in the patient group who underwent lacrimal endoscopy (χ

-test, p = 0.004).

In summary it can be said that DCR is not inferior to lacrimal endoscopy in terms of patient satisfaction.

In summary it can be said that DCR is not inferior to lacrimal endoscopy in terms of patient satisfaction.

Metabolomics applications to the aquaculture research are increasing steadily. The use of standardized proton nuclear magnetic resonance (

H NMR) spectroscopy can provide the aquaculture industry with an unbiased, reproducible, and high-throughput screening tool, which can help to diagnose nutritional and disease-related metabolic disorders in farmed fish.

Standard operating procedures developed for analysing (human) plasma by

H NMR were applied to fingerprint the metabolome in plasma samples collected from Atlantic salmon. The aim was to explore the metabolome of salmon plasma in relation to growth stage and sampling site.

A total of 72 salmon were collected from three aquaculture sites in Norway (Lat. 65, 67, and 70 °N) and over two sampling events (December 2017 and November 2018). Plasma drawn from each salmon was measured by

H NMR and metabolites were quantified using the SigMa software. The NMR data was analysed by principal component analysis (PCA) and ANOVA-simultaneous component analysis (ASCA).

Important metabolic differences were evidenced, with adult salmon having a much higher content of very low-density lipoproteins and cholesterol in their plasma, while smolts displayed significantly higher levels of propylene glycol. Overall, 24% of the metabolite variation was due to the growth stage, whereas 12% of the metabolite variation was related to the aquaculture site and practice (p < 0.001).

This study provides a baseline investigation of the plasma metabolome of the Atlantic salmon and demonstrates how

H NMR metabolomics can be used in future investigations for comparing aquaculture practices and their influence on the fish metabolome.

This study provides a baseline investigation of the plasma metabolome of the Atlantic salmon and demonstrates how 1H NMR metabolomics can be used in future investigations for comparing aquaculture practices and their influence on the fish metabolome.