De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease gene discovery. In this study, exome sequencing analysis was used to search for potentially causal DNA variants in a two-generation pedigree with apparent dominant retinitis pigmentosa.MethodsVariant identification and analysis of three affected members (mother and two affected offspring) was performed via exome sequencing. Parental samples of the index case were used to establish inheritance. Follow-up testing of 94 additional retinitis pigmentosa pedigrees was performed via retrospective analysis or Sanger sequencing.Results and conclusionsA total of 136 high quality coding variants in 123 genes were identified which are consistent with autosomal dominant disease. Of these, one of the strongest genetic and functional candidates is a c.269A>G (p.Tyr90Cys) variant in ARL3. Follow-up testing established that this variant occurred de novo in the index case. No additional putative causal variants in ARL3 were identified in the follow-up cohort, suggesting that if ARL3 variants can cause adRP it is an extremely rare phenomenon

Growth Kinetics of Vitamin C Crystals in a Batch L(+)-Ascorbic Acid – Methanol – Ethanol – Water System: Size Independent Growth Model Approach

The experimental data concerning growth kinetics of vitamin C (L(+)-ascorbic acid, LAA) crystals in a seeded and cooling batch mass crystallization process realized in a four–compound: L(+)-ascorbic acid–methanol–ethanol–water system are reported. Influences of initial composition of solution and its linear cooling rate on “average, effective” values of crystal linear growth rate were examined. Small divergences between LAA crystal size distributions (CSDs) data from granulometric analysis and Coulter counter were interpreted theoretically and discussed. Linear growth rates of crystals in a batch crystallizer were acquired with a proposed by Nývlt indirect method, based on the analysis of population density n(L) data in a MSMPR (mixed suspension mixed product removal) crystallizer. Size–independent growth (SIG) kinetics was assumed. It can be concluded, that the largest and the most uniform particles of purified, crystalline vitamin C correspond to higher initial concentration of L(+)-ascorbic acid in a solution and lower cooling rate applied

EFFECT OF CONTINUOUS CRYSTALLIZER PERFORMANCE ON STRUVITE CRYSTALS PRODUCED IN REACTION CRYSTALLIZATION FROM SOLUTIONS CONTAINING PHOSPHATE(V) AND ZINC(II) IONS

Abstract Continuous reaction crystallization of struvite from aqueous solutions containing phosphate(V) (1.0 mass %) and zinc(II) ions (from 0.1 to 2.0 mg kg-1) in a continuous DT MSMPR crystallizer was investigated. The influence of pH (9 - 11) and mean residence time (900 - 3600 s) on the product characteristics and its chemical composition was tested. Struvite crystals of mean size 22-41 µm were produced. An increase in Zn2+ concentration decreased the mean crystal size and homogeneity. An elevation of the pH also decreased the struvite crystal size. Augmenting the mean residence time influenced product quality advantageously. Coexistence of struvite and Zn(OH)2 in the product was confirmed analytically

Growth Kinetics of Vitamin C Crystals in a Batch L(+)-Ascorbic Acid – Methanol – Ethanol – Water System: Size Independent Growth Model Approach

The experimental data concerning growth kinetics of vitamin C (L(+)-ascorbic acid, LAA) crystals in a seeded and cooling batch mass crystallization process realized in a four–compound: L(+)-ascorbic acid–methanol–ethanol–water system are reported. Influences of initial composition of solution and its linear cooling rate on “average, effective” values of crystal linear growth rate were examined. Small divergences between LAA crystal size distributions (CSDs) data from granulometric analysis and Coulter counter were interpreted theoretically and discussed. Linear growth rates of crystals in a batch crystallizer were acquired with a proposed by Nývlt indirect method, based on the analysis of population density n(L) data in a MSMPR (mixed suspension mixed product removal) crystallizer. Size–independent growth (SIG) kinetics was assumed. It can be concluded, that the largest and the most uniform particles of purified, crystalline vitamin C correspond to higher initial concentration of L(+)-ascorbic acid in a solution and lower cooling rate applied

Bi-Directional Effect of Cholecystokinin Receptor-2 Overexpression on Stress-Triggered Fear Memory and Anxiety in the Mouse

Fear, an emotional response of animals to environmental stress/threats, plays an important role in initiating and driving adaptive response, by which the homeostasis in the body is maintained. Overwhelming/uncontrollable fear, however, represents a core symptom of anxiety disorders, and may disturb the homeostasis. Because to recall or imagine certain cue(s) of stress/threats is a compulsory inducer for the expression of anxiety, it is generally believed that the pathogenesis of anxiety is associated with higher attention (acquisition) selectively to stress or mal-enhanced fear memory, despite that the actual relationship between fear memory and anxiety is not yet really established. In this study, inducible forebrain-specific cholecystokinin receptor-2 transgenic (IF-CCKR-2 tg) mice, different stress paradigms, batteries of behavioral tests, and biochemical assays were used to evaluate how different CCKergic activities drive fear behavior and hormonal reaction in response to stresses with different intensities. We found that in IF-CCKR-2 tg mice, contextual fear was impaired following 1 trial of footshock, while overall fear behavior was enhanced following 36 trials of footshock, compared to their littermate controls. In contrast to a standard Yerkes-Dodson (inverted-U shaped) stress-fear relationship in control mice, a linearized stress-fear curve was observed in CCKR-2 tg mice following gradient stresses. Moreover, compared to 1 trial, 36 trials of footshock in these transgenic mice enhanced anxiety-like behavior in other behavioral tests, impaired spatial and recognition memories, and prolonged the activation of adrenocorticotropic hormone (ACTH) and glucocorticoids (CORT) following new acute stress. Taken together, these results indicate that stress may trigger two distinctive neurobehavioral systems, depending on both of the intensity of stress and the CCKergic tone in the brain. A “threshold theory” for this two-behavior system has been suggested

Antimicrobial susceptibility patterns and characterization of clinical isolates of Staphylococcus aureus in KwaZulu-Natal province, South Africa

BACKGROUND: Antimicrobial resistance of Staphylococcus aureus especially methicillin-resistant S. aureus (MRSA) continues to be a problem for clinicians worldwide. However, few data on the antibiotic susceptibility patterns of S. aureus isolates in South Africa have been reported and the prevalence of MRSA in the KwaZulu-Natal (KZN) province is unknown. In addition, information on the characterization of S. aureus in this province is unavailable. This study investigated the susceptibility pattern of 227 S. aureus isolates from the KZN province, South Africa. In addition, characterization of methicillin-sensitive S. aureus (MSSA) and MRSA are reported in this survey. METHODS: The in-vitro activities of 20 antibiotics against 227 consecutive non-duplicate S. aureus isolates from clinical samples in KZN province, South Africa were determined by the disk-diffusion technique. Isolates resistant to oxacillin and mupirocin were confirmed by PCR detection of the mecA and mup genes respectively. PCR-RFLP of the coagulase gene was employed in the characterization of MSSA and MRSA. RESULTS: All the isolates were susceptible to vancomycin, teicoplanin and fusidic acid, and 26.9% of isolates studied were confirmed as MRSA. More than 80% of MRSA were resistant to at least four classes of antibiotics and isolates grouped in antibiotype 8 appears to be widespread in the province. The MSSA were also susceptible to streptomycin, neomycin and minocycline, while less than 1% was resistant to chloramphenicol, ciprofloxacin, rifampicin and mupirocin. The inducible MLS(B )phenotype was detected in 10.8% of MSSA and 82% of MRSA respectively, and one MSSA and one MRSA exhibited high-level resistance to mupirocin. There was good correlation between antibiotyping and PCR-RFLP of the coagulase gene in the characterization of MRSA in antibiotypes 1, 5 and 12. CONCLUSION: In view of the high resistance rates of MRSA to gentamicin, erythromycin, clindamycin, rifampicin and trimethoprim, treatment of MRSA infections in this province with these antibacterial agents would be unreliable. There is an emerging trend of mupirocin resistance among S. aureus isolates in the province. PCR-RFLP of the coagulase gene was able to distinguish MSSA from MRSA and offers an attractive option to be considered in the rapid epidemiological analysis of S. aureus in South Africa. Continuous surveillance on resistance patterns and characterization of S. aureus in understanding new and emerging trends in South Africa is of utmost importance

Characterization of Carbon Beads Derived from Porous Polyimide Copolymer

A new carbon sorbent obtained by the carbonization of beads of the porous copolymer of 4,4′-bis(maleimidodiphenyl)methane and styrene is described. To determine the influence of the carbonization process on the porous and chemical structure of the sorbent, nitrogen adsorption at low temperature, mercury porosimetry, quasi-isothermal analysis and chromatographic measurements were made. The results indicate that polar imide functional groups were destroyed during carbonization, changing the chemical and porous structure of the sorbent. In consequence, non-polar porous carbon particles were obtained. </jats:p

Continuous reaction crystallization of struvite in presence of iron(III) ions

Przedstawiono wyniki badań dotyczących ciągłego wydzielania struwitu za pomocą jonów magnezu i amonu w warunkach stechiometrycznych z roztworów wodnych zawierających 1,0% mas. jonów fosforanowych(V) i jony żelaza(III). w zależności od stężenia tych jonów (1 ÷ 10 mg Fe3+ / kg roztworu), pH (9 ÷ 11) i średniego czasu przebywania zawiesiny w krystalizatorze (900 ÷ 3600 s) otrzymano produkty o średnim rozmiarze kryształów od 20 do 43 žm. wykazano, że jony żelaza(III) niekorzystnie oddziaływują na rozmiary kryształów struwitu (L m ok. 36 › 26 žm) i jednorodność ich populacji (CV = 71 › 97%). wytrącone z kryształami struwitu cząstki wodorotlenku żelaza(III), o rozmiarach często poniżej 1 žm, tworzyły aglomeraty, również na powierzchni kryształów struwitu. Obecność jonów żelaza(III) przyczyniła się do krystalizacji struwitu w postaci kryształów rurowych.The experimental results concerning continuous reaction crystallization of struvite from water solutions containing 1.0 mass % of phosphate(V) and iron(III) ions with magnesium and ammonium ions in stoichiometric conditions are presented. Depending on foreign ion concentration (1 ÷ 10 mg Fe3+ /kg of solution), pH (9 ÷ 11) and mean residence time of suspension in crystallizer (900 ÷ 3600 s) the crystal products of mean crystal size from 20 to 43 žm were obtained. It was proved that iron(III) ions affect struvite crystal sizes (L m ca. 36 › 26 žm) and their population homogeneity (CV = 71 › 97%) disadvantageously. The iron(III) hydroxide particles co-precipitated with struvite crystals, usually of size below 1 žm, formed agglomerates - also on the parent struvite crystal surfaces. Presence of iron(III) ions contributes struvite crystallization in characteristic tubular-shape form

Antimicrobial susceptibility patterns of Staphylococcus aureus in Poland obtained by the National Quality Assurance Programme

ABSTRACTAs part of the Polish external quality assurance scheme, clinical laboratories were asked to send five consecutive isolates of Staphylococcus aureus and the corresponding susceptibility results to the national Centre of Quality Control in Microbiology. Of 1376 isolates submitted as S. aureus from 276 medical centres, 13 (< 1%) had been misidentified by local laboratories. Of 181 (13.5%) methicillin-resistant S. aureus (MRSA) isolates, most were identified correctly (c. 98% of laboratories). Although all MRSA isolates were fully susceptible to vancomycin, teicoplanin and linezolid, they were usually multiresistant; almost 23% were resistant to seven antimicrobial agents. Most (> 90%) MSSA isolates were susceptible to the tested antibiotics, except penicillin (21% susceptible) and tetracycline (62.4% susceptible). In addition to evaluating the proficiency of testing by local laboratories, the study yielded valuable information regarding the susceptibility patterns of S. aureus isolates in Poland