Clinical significance of the anti-Nucleolar Organizer Region 90 antibodies (NOR90) in systemic sclerosis: Analysis of the European Scleroderma Trials and Research (EUSTAR) cohort and a systematic literature review.

BACKGROUND: The anti-Nucleolar Organizer Region 90 antibodies (NOR90) are rare antinuclear antibodies (ANA) reported in systemic sclerosis (SSc). Especially due to low prevalence, the clinical relevance of NOR90 in SSc remains uncertain. OBJECTIVES: To analyze the clinical associations of NOR90 in patients with SSc in a multicentric cohort. METHODS: Post-hoc, cross-sectional study of prospectively collected data from the European Scleroderma Trials and Research (EUSTAR) database, with additional information on NOR90. Further, we performed a systematic literature search, using the terms "systemic sclerosis" and "NOR90" across three databases: Medline via PubMed, Scopus, and Thomson Reuters' Web of Science Core Collection, from inception to November 1st, 2023. RESULTS: Overall, 1318 patients with SSc were included (mean age 58.3 ± 13.7 years, 81.3 % female), of whom 44 (3.3 %) were positive for NOR90. Of these, 32 were also positive for one of the SSc-criteria antibodies: 9/44 (20.5 %) for anti-topoisomerase I, 18/42 (42.9 %) for anti-centromere, and 5/40 (12.5 %) for anti-RNA polymerase III. NOR90-positive patients were more frequently female, had lower modified Rodnan skin score (mRSS), and lower prevalence of upper and lower gastrointestinal (GI) symptoms compared to NOR90-negative patients. In multivariable analysis, NOR90 remained significantly associated with lower mRSS and less frequent GI symptoms. The literature search identified 17 articles, including a total number of 87 NOR90-positive out of 3357 SSc patients, corresponding to an overall prevalence of 2.6 %. CONCLUSION: To our best knowledge, this is the largest SSc cohort tested for NOR90 to date, confirming the NOR90 prevalence in SSc patients is around 3 %.

The influence of base pair tautomerism on single point mutations in aqueous DNA.

The relationship between base pair hydrogen bond proton transfer and the rate of spontaneous single point mutations at ambient temperatures and pressures in aqueous DNA is investigated. By using an ensemble-based multiscale computational modelling method, statistically robust rates of proton transfer for the A:T and G:C base pairs within a solvated DNA dodecamer are calculated. Several different proton transfer pathways are observed within the same base pair. It is shown that, in G:C, the double proton transfer tautomer is preferred, while the single proton transfer process is favoured in A:T. The reported range of rate coefficients for double proton transfer is consistent with recent experimental data. Notwithstanding the approximately 1000 times more common presence of single proton transfer products from A:T, observationally there is bias towards G:C to A:T mutations in a wide range of living organisms. We infer that the double proton transfer reactions between G:C base pairs have a negligible contribution towards this bias for the following reasons: (i) the maximum half-life of the G*:C* tautomer is in the range of picoseconds, which is significantly smaller than the milliseconds it takes for DNA to unwind during replication, (ii) statistically, the majority of G*:C* tautomers revert back to their canonical forms through a barrierless process, and (iii) the thermodynamic instability of the tautomers with respect to the canonical base pairs. Through similar reasoning, we also deduce that proton transfer in the A:T base pair does not contribute to single point mutations in DNA.

[A rare nosological association: a villous gastric polyp and asymptomatic choledocholithiasis]. / Concomitenta nosologica rara: polip gastric vilos împietruire coledociana asimptomatica.

The authors present the case of a male patient, aged 68, admitted in our department for a upper gastrointestinal hemorrhage. The upper gastrointestinal series showed a large gastric villous adenoma located in the body of the stomach. Intraoperative, we found a gastric villous adenoma and multiple choledocholithiasis and gallbladder stones which evolved completely asymptomatic. We performed a mediogastric resection, Fredet pyloroplasty and laterolateral choledochoduodenostomy with a good postoperative result. This case is peculiar due to the concomitant occurrence of two rare diseases the gastric villous adenoma and the asymptomatic multiple choledocholithiasis.

[2 cases of acute gastric volvulus]. / Consideratii asupra a doua cazuri de volvulus acut gastric.

The paper presents 2 cases in which chronic gastric volvulus was diagnosed. At a short interval after establishing the diagnosis, acute gastric volvulus appeared, that required emergent surgery.

[Dynamics of temporary work incapacity and disability caused by tuberculosis in the Brasov district in the 1971-1976 period]. / Dinamica incapacitatii temporare de munca si a invaliditaatil prin tuberculoza în judetul Brasov în perioada 1971--1976.

The paper stresses the fact that a decrease by approximately 50% was obtained, of the severity index due to tuberculosis, and by 63,6% of the incidence of invalidity through tuberculosis as a result of decreased morbidity and of the application of more efficient therapies over a shorter period of time. The prevalence of invalidity through tuberculosis recorded but a slight decrease since those subjects who had sequellae involving irrecoverable cardiorespiratory insufficiency were maintained in this category.