TWO CASES OF NON-ALCOHOLIC WERNICKE ENCEPHALOPATHY SUCCESSFULLY TREATED BY THIAMINE REPLACEMENT: DIAGNOSTIC AND THERAPEUTIC CONSIDERATIONS

Wernicke\u2019s encephalopathy (WE) is an acute neurologi- cal disorder, due to a lack of thiamin (vitamin B1) which is observed mainly in alcoholic patients. Unfortunately, the syn- drome is underestimated in clinical practice and most often recognized only on autopsy, especially among non-alcoholics. The common clinical picture include mental status changes, ocular dysfunction, and gait ataxia. Treatment consists of timely thiamine replacement through intravenous infusion. We describe the case of two patients who developed a non-alcoholic WE post-surgical, regressed completely after intravenous infusion of thiamine. These cases suggest intere- sting diagnostic and therapeutic implications

Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing

The basal transcription/repair factor II H (TFIIH), found mutated in cancer-prone or premature aging diseases, plays a still unclear role in RNA polymerase I transcription. Furthermore, the impact of this function on TFIIHrelated diseases, such as trichothiodystrophy (TTD), remains to be explored. Here, we studied the involvement of TFIIH during the whole process of ribosome biogenesis, from RNAP1 transcription to maturation steps of the ribosomal RNAs. Our results show that TFIIH is recruited to the ribosomal DNA in an active transcription- dependent manner and functions in RNAP1 transcription elongation through ATP hydrolysis of the XPB subunit. Remarkably, we found a TFIIH allele-specific effect, affecting RNAP1 transcription and/or the pre-rRNA maturation process. Interestingly, this effect was observed in mutant TFIIH-TTD cells and also in the brains of TFIIH-TTD mice. Our findings provide evidence that defective ribosome synthesis represents a new faulty mechanism involved in the pathophysiology of TFIIH-related diseases.</p

Evaluation of trace calls by Xpert MTB/RIF ultra for clinical management in low TB burden settings

Background Clinical interpretation of trace results by Xpert MTB/RIF Ultra assay (Ultra) used as an initial diagnostic test for tuberculosis (TB) may be challenging. The aim of the study was to evaluate the frequency and epidemiology of trace readouts in routine clinical practice in a low TB prevalence setting and to propose guidance on how to manage patients with trace calls considering the data available (clinical, radiological, bacteriological etc.). Materials and methods A retrospective, observational, monocentric study was conducted at IRCCS Azienda Ospedaliero-Universitaria of Bologna, Italy between November 2017—December 2020. Presumptive TB patients with at least one Ultra trace result during diagnostic workup before treatment were included in the study. Patients with ongoing anti-TB treatment at the time of the trace call result or with no clinical data available were excluded from the study. Results Fifty-nine presumptive TB patients with Ultra trace readouts were included in the study (mean age 37.0 years, 61% males). Four patients had a history of TB in the last 2 years. Twenty-five (42.4%) of the 59 samples with trace results were respiratory material. 57/59 (96.6%) patients started anti-TB treatment soon after obtaining trace results, based on clinical, radiological or other information available, while for two patients with a recent history of TB the trace result did not lead to anti-TB treatment. Culture was positive for M. tuberculosis for 31/59 (52.5%) samples with trace calls: 13/25 (52.0%) were respiratory samples and 18/33 (54.5%) non-respiratory samples. The clinical and/or radiological findings of 47/57 (82.4%) patients given anti-TB therapy improved during treatment. Conclusion In low TB incidence settings, Ultra trace calls in presumptive TB patients should be considered as true-positive and treatment should be started promptly, except in cases of recent history of TB, where careful evaluation of other diagnostic criteria is necessary before starting anti-TB treatment. A decisional algorithm for clinical management is proposed

Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing

The basal transcription/repair factor II H (TFIIH), found mutated in cancer-prone or premature aging diseases, plays a still unclear role in RNA polymerase I transcription. Furthermore, the impact of this function on TFIIHrelated diseases, such as trichothiodystrophy (TTD), remains to be explored. Here, we studied the involvement of TFIIH during the whole process of ribosome biogenesis, from RNAP1 transcription to maturation steps of the ribosomal RNAs. Our results show that TFIIH is recruited to the ribosomal DNA in an active transcription- dependent manner and functions in RNAP1 transcription elongation through ATP hydrolysis of the XPB subunit. Remarkably, we found a TFIIH allele-specific effect, affecting RNAP1 transcription and/or the pre-rRNA maturation process. Interestingly, this effect was observed in mutant TFIIH-TTD cells and also in the brains of TFIIH-TTD mice. Our findings provide evidence that defective ribosome synthesis represents a new faulty mechanism involved in the pathophysiology of TFIIH-related diseases.</p

A painful tic convulsif due to double neurovascular impingement

Here we present the case of a 50-year-old man suffering from “painful tic convulsif”, on the left side of the face, i.e., left trigeminal neuralgia associated with ipsilateral hemifacial spasm. An angio-MRI scan showed a neurovascular confliction of left superior cerebellar artery with the ipsilateral V cranial nerve and of the left inferior cerebellar artery with the ipsilateral VII cranial nerve. Neurophysiological evaluation through esteroceptive blink reflex showed the involvement of left facial nerve. An initial carbamazepine treatment (800 mg/daily) was completely ineffective, so the patient was shifted to lamotrigine 50 b.i.d. that was able to reduce attacks from 4 to 6 times per day to 1 to 2 per week. Considering the good response to the drug, the neurosurgeon decided to delay surgical treatment

Free electron laser-driven ultrafast rearrangement of the electronic structure in Ti

High-energy density extreme ultraviolet radiation delivered by the FERMI seeded free-electron laser has been used to create an exotic nonequilibrium state of matter in a titanium sample characterized by a highly excited electron subsystem at temperatures in excess of 10 eV and a cold solid-density ion lattice. The obtained transient state has been investigated through ultrafast absorption spectroscopy across the Ti M2,3-edge revealing a drastic rearrangement of the sample electronic structure around the Fermi level occurring on a time scale of about 100 fs

Red and golden tomato administration improves fat diet-induced hepatic steatosis in rats by modulating HNF4α, Lepr, and GK expression

Introduction: Nonalcoholic fatty liver disease (NAFLD), characterized by lipid accumulation within hepatocytes exceeding 5% of liver weight, is strongly related to metabolic disorders, obesity, and diabetes and represents a health emergency worldwide. There is no standard therapy available for NAFLD. Lifestyle intervention, including phytonutrient intake, is key in preventing NAFLD development and progression. Methods: We used a rat model of NAFLD to evaluate the effect of dietary supplementation with red tomato (RT) and golden tomato (GT)—a patented mix of fruit with varying degrees of ripeness and particularly rich in naringenin and chlorogenic acid—after steatosis development. We assessed the effects on body weight, metabolic profile, and hepatic steatosis. Results and discussion: We found a correlation between the amelioration of all the parameters and the liver gene expression. Our results showed that, together with the reversion of steatosis, the consumption of RT and GT can cause a significant reduction in triglycerides, low-density lipoprotein-cholesterol, fasting glucose, and homeostasis model assessment index. Meanwhile, we observed an increase in high-density lipoprotein-cholesterol according to the amelioration of the general lipidic profile. Regarding hepatic gene expression, we found the upregulation of Gk and Hnf4α involved in metabolic homeostasis, Lepr involved in adipokine signaling, and Il6 and Tnf involved in inflammatory response. Taken together, our results suggest that dietary intake of red and golden tomatoes, as a nutraceutical approach, has potential in preventing and therapeutics of NAFLD

Transmittance and optical constants of ca films in the 4-1000 eV spectral range

8 págs.; 8 figs.; OCIS codes: (260.7200) Ultraviolet, extreme; (120.4530) Optical constants; (350.2450) Filters, absorption; (230.4170) Multilayers; (310.6860) Thin films, optical properties.© 2015 Optical Society of America. The low expected absorption of Ca in the extreme ultraviolet (EUV) makes it an attractive material for multilayers and filters because most materials in nature strongly absorb the EUV. Few optical constant data had been reported for Ca. In this research, Ca films of various thicknesses were deposited on gridsupported C films and their transmittance measured in situ from the visible to the soft x-rays. The measurement range contains M2,3 and L2,3 absorption edges. Transmittance measurements were used to obtain the Ca extinction coefficient k. A minimum k of 0.017 was obtained at ∼23 eV, which makes Ca a promising low-absorption material for EUV coatings. A second spectral range of interest for its low absorption is below the Ca L3 edge at ∼343 eV. Measured k data and extrapolations were used to calculate the refractive index n using Kramers.Kronig relations. This is the first self-consistent data set on Ca covering a wide spectral range including the EUV.We acknowledge support by the European Community—Research Infrastructure Action under the FP6 “Structuring the European Research Area” Programme (through the Integrated Infrastructure Initiative “Integrating Activity on Synchrotron and Free Electron Laser Science”) through proposal number Ref. 2007655. This work was also supported by the National Programme for Space Research, Subdirección General de Proyectos de Investigación, Ministerio de Ciencia y Tecnología, project numbers AYA2010-22032 and AYA2013-42590-P. L. Rodrí- guez-de Marcos and S. García-Cortés are thankful to Consejo Superior de Investigaciones Científicas (CSIC) for funding under the Programa JAE, partially supported by the European Social Fund. M. Vidal-Dasilva acknowledges financial support from an FPI fellowship number BES-2006-14047Peer Reviewe

Electronic structure of MAPbI3 and MAPbCl3: importance of band alignment

Since their first appearance, organic-inorganic perovskite absorbers have been capturing the attention of the scientific community. While high efficiency devices highlight the importance of band level alignment, very little is known on the origin of the strong n-doping character observed in the perovskite. Here, by means of a highly accurate photoemission study, we shed light on the energy alignment in perovskite-based devices. Our results suggest that the interaction with the substrate may be the driver for the observed doping in the perovskite samples