Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity

Ornithine transcarbamylase deficiency shows X-linked inheritance with partial dominant expression in carrier females. We studied a girl with intermittent severe orotic aciduria and mild hyperammonaemia despite apparently normal enzyme activity in the liver. Sequence analysis of all 10 exons of the ornithine transcarbamylase gene revealed a novel a → G exchange (A502G) in exon 5 which changes His-136 to arginine in the ornithine transcarbamylase protein. Km values for carbamyl phosphate and ornithine determined in the patient's liver were comparable to those of wild-type enzyme but, unlike the wild-type enzyme, the mutant enzyme was unstable upon freezing and thawing. Electron microscopy revealed several giant mitochondria with paracrystalline inclusions. The results are compatible with the assumption that the mutant enzyme cannot form a functional complex with carbamyl phosphate synthetase and the ornithine carrier, resulting in decreased availability of substrates and diminished enzyme activity in viv

Self-referent versus other-referent information processing in dysphoric, clinically depressed and remitted depressed subjects

Examined the processing of responses directed toward the self versus others by dysphoric, clinically depressed and remitted depressed Ss. In Exp 1, 30 dysphoric Ss found positive and negative responses toward the self equally informative. 30 nondysphoric Ss found positive responses toward the self more informative. When responses were directed toward others, dysphorics found positive responses more informative than negative responses, while nondysphorics found positive and negative responses directed toward others equally informative. Exp 2 replicated these results with 27 clinically depressed and 27 nondysphoric Ss, showing that remitted depressed Ss found positive responses more informative, regardless of direction to self or others. Results suggest that positive and negative constructs are differentially accessible for these groups

Straining at work and its relationship with personality profiles and individual consequences in healthcare workers (HCWs)

Straining is an attenuated form of mobbing, in which the continuity of vexatious actions is not driven by a discriminatory intent. With the objective of testing the possible moderating role of personality in the relationship between perceptions about straining at work and individual consequences, a correlational design research involved 374 healthcare workers (HCWs) from two Italian hospitals. The following questionnaires were administered: (1) Short Negative Acts Questionnaire (S‐NAQ), to assess discriminative actions at work); (2) the Italian version of the Big Five Inventory (BFI‐10 scale), to assess personality factors; (3) Occupational Stress Indicator (OSI), to measure psychological and physical health. Regression analysis and Structural Equation Models (SEM) were computed in order to test the relationships between variables. Perceived straining showed significant correlations with both psychological and physical health. Conscientiousness was inversely proportional to work‐related bullying (WB), as agreeableness was to personal bullying (PB). Emotional stability was negatively correlated with all the three component scales of S‐NAQ: WB, PB, and social bullying. The results seem to confirm that straining perceptions especially elicit, through emotional stability, psychological consequences. As regards the role of emotional stability in risk perceptions, it seems management has to pay thorough attention to personal factors in organizational perceptions and to straining actions

Anomalous density dependence of static friction in sand

We measured experimentally the static friction force $F_s$ on the surface of a glass rod immersed in dry sand. We observed that $F_s$ is extremely sensitive to the closeness of packing of grains. A linear increase of the grain-density yields to an exponentially increasing friction force. We also report on a novel periodicity of $F_s$ during gradual pulling out of the rod. Our observations demonstrate the central role of grain bridges and arches in the macroscopic properties of granular packings.Comment: plain tex, 6 pages, to appear in Phys.Rev.

Biomarkers of Endocannabinoid System Activation in Severe Obesity

Obesity is a worldwide epidemic, and severe obesity is a risk factor for many diseases, including diabetes, heart disease, stroke, and some cancers. Endocannabinoid system (ECS) signaling in the brain and peripheral tissues is activated in obesity and plays a role in the regulation of body weight. The main research question here was whether quantitative measurement of plasma endocannabinoids, anandamide, and related N-acylethanolamines (NAEs), combined with genotyping for mutations in fatty acid amide hydrolase (FAAH) would identify circulating biomarkers of ECS activation in severe obesity.Plasma samples were obtained from 96 severely obese subjects with body mass index (BMI) of > or = 40 kg/m(2), and 48 normal weight subjects with BMI of < or = 26 kg/m(2). Triple-quadrupole mass spectroscopy methods were used to measure plasma ECS analogs. Subjects were genotyped for human FAAH gene mutations. The principal analysis focused on the FAAH 385 C-->A (P129T) mutation by comparing plasma ECS metabolite levels in the FAAH 385 minor A allele carriers versus wild-type C/C carriers in both groups. The main finding was significantly elevated mean plasma levels of anandamide (15.1+/-1.4 pmol/ml) and related NAEs in study subjects that carried the FAAH 385 A mutant alleles versus normal subjects (13.3+/-1.0 pmol/ml) with wild-type FAAH genotype (p = 0.04), and significance was maintained after controlling for BMI.Significantly increased levels of the endocannabinoid anandamide and related NAEs were found in carriers of the FAAH 385 A mutant alleles compared with wild-type FAAH controls. This evidence supports endocannabinoid system activation due to the effect of FAAH 385 mutant A genotype on plasma AEA and related NAE analogs. This is the first study to document that FAAH 385 A mutant alleles have a direct effect on elevated plasma levels of anandamide and related NAEs in humans. These biomarkers may indicate risk for severe obesity and may suggest novel ECS obesity treatment strategies

Efficient Radiative Pumping of Polaritons in a Strongly Coupled Microcavity by a Fluorescent Molecular Dye

KGaA, Weinheim.The optical properties of a series of strongly coupled microcavities containing the fluorescent molecular dye BODIPY-Br (bromine-substituted boron-dipyrromethene) dispersed into a transparent dielectric matrix are explored, with each cavity having a different exciton-photon detuning. Using temperature dependent emission, time-resolved spectroscopy, white-light reflectivity, and measurements of fluorescence quantum yield, the population of polaritons is explored along the lower polariton branch. It is found that both the cavity fluorescence quantum efficiency and the distribution of polariton states along the lower polariton branch is a function of exciton-photon detuning. Importantly, it is shown that in the most negatively detuned cavities, the emission quantum efficiency approaches that of a control (noncavity) film. A simple fitting model is developed, which is based upon direct radiative pumping of polariton states along the lower polariton branch and used it to obtain an excellent agreement with measured photoluminescence as a function of temperature and exciton-photon detuning, and qualitative agreement with the measured photoluminescence quantum efficiency. The radiative pumping mechanism indicates that to facilitate the formation of a nonequilibrium polariton condensate in strongly-coupled microcavities containing dispersed molecular dyes, it is important to utilize materials having high fluorescent quantum efficiency and fast radiative rates

New records of rare species in the Mediterranean Sea (October 2021)

This Collective Article presents information about 27 taxa belonging to five Phyla (one Ochrophyta, one Cnidaria, three Arthropoda, two Mollusca and twenty Chordata) and extending from the Western Mediterranean Sea to the Levantine Sea and theBlack Sea (Sea of Marmara). The new records were reported from 11 countries as follows: Algeria: occurrence of the Africanstriped grunt Parapristipoma octolineatum; Spain: new records of eight uncommon fish species (Gadella maraldi, Hypleurochilusbananensis, Lobotes surinamensis, Parapristipoma octolineatum, Selene dorsalis, Sphoeroides marmoratus, Tetragonuruscuvieri, and Trachyrincus scabrus) from the Spanish Mediterranean; Italy: new record of the football octopus Ocythoe tuberculatafrom the Southern Tyrrhenian Sea; a rare sighting of a juvenile phase of a moray eel of the genus Gymnothorax, tentativelyidentified as Gymnothorax cf. unicolor in the Ligurian Sea; first record of adult Facciola’s sorcerer Facciolella oxyrhynchus inthe Adriatic Sea; occurrence of the tope shark Galeorhinus galeus in the Northern Adriatic Sea; Libya: first confirmed recordof the pen shell Pinna rudis; first documented record of the palaemonid shrimp Brachycarpus biunguiculatus; first record of thefish Sudis hyalina; Malta: new records of Grant’s rockling, Gaidropsarus granti; multiple concomitant reports of the rare hydromedusanspecies Aequorea forskalea; Croatia: a record of the skipjack tuna Katsuwonus pelamis in the Southern Adriatic Sea;Albania: new record of the bigeye thresher shark Alopias superciliosus; Greece: confirmation of the rare brown alga Sargassumflavifolium occurrence in the Eastern Mediterranean Sea; first record of the scaleless dragonfish Bathophilus nigerrimus; Turkey:first occurrence of the calanoid copepod Pteriacartia josephinae in the Aegean Sea; first documented record of the Cremona’s seaslug Placida cremoniana for the easternmost Mediterranean Sea; new record of the yellow-headed goby Gobius xanthocephalusin the Sea of Marmara; Cyprus: first record of the Liechtenstein’s goby Corcyrogobius liechtensteini; an individual of the Yellowfintuna Thunnus albacares captured with handline by an artisanal fisher; Lebanon: an individual of the Black marlin Istiompaxindica captured in a gill ne

Stress avulsion of the tibial tuberosity after tension band wiring of a patellar fracture: a case report

INTRODUCTION: To the best of our knowledge there is no other report of an elderly patient who was surgically treated for a patellar fracture with tension band wiring and who subsequently suffered from an avulsion fracture of the tibial tuberosity. The combination of a patellar fracture and avulsion of the patellar ligament has only been described as complication after bone-patellar tendon-bone anterior cruciate ligament reconstructions. However, due to demographic changes and more elderly patients treated this injury may become more frequent in future. CASE PRESENTATION: We present the case of an 81 year old female who sustained an oblique patellar fracture after a direct contact injury of the left knee when falling on ice. Consequently the patellar fracture was openly reduced and stabilized with tension band wiring. The follow-up was uneventful till three months after surgery when the patient noticed a spontaneous avulsion fracture of the tibial tuberosity (Ogden type 3). The tibial tuberosity fragment was reattached with two non-resorbable sutures looped around two modified AO cortical 3.5 mm long neck screws. Intraoperatively multiple bone cysts were seen. Biopsies were not taken to prevent further fragmentation of the tibial tuberosity. The patient was followed up with anteroposterior and lateral full weight bearing radiographs and clinical assessment at 6, 12 weeks and 6 months after surgery. Recovery was completely pain free with full satisfaction. CONCLUSION: In conclusion in elderly patients with a patella fracture a possible associated but not obvious fracture of the tibial tuberosity should be ruled out and the postoperative rehabilitation protocol after tension band wiring of the patella might have to be individually adjusted to bone quality and course of the fracture

NQO2 is a reactive oxygen species generating off-target for acetaminophen

[Image: see text] The analgesic and antipyretic compound acetaminophen (paracetamol) is one of the most used drugs worldwide. Acetaminophen overdose is also the most common cause for acute liver toxicity. Here we show that acetaminophen and many structurally related compounds bind quinone reductase 2 (NQO2) in vitro and in live cells, establishing NQO2 as a novel off-target. NQO2 modulates the levels of acetaminophen derived reactive oxygen species, more specifically superoxide anions, in cultured cells. In humans, NQO2 is highly expressed in liver and kidney, the main sites of acetaminophen toxicity. We suggest that NQO2 mediated superoxide production may function as a novel mechanism augmenting acetaminophen toxicity

A Search for Jet Handedness in Hadronic Z0Z^0 Decays

We have searched for signatures of polarization in hadronic jets from $Z^0 \to q \bar{q}$ decays using the ``jet handedness'' method. The polar angle asymmetry induced by the high SLC electron-beam polarization was used to separate quark jets from antiquark jets, expected to be left- and right-polarized, respectively. We find no evidence for jet handedness in our global sample or in a sample of light quark jets and we set upper limits at the 95% C.L. of 0.063 and 0.099 respectively on the magnitude of the analyzing power of the method proposed by Efremov {\it et al.}Comment: Revtex, 8 pages, 2 figure