The genus Sorangium synthesizes approximately half of the secondary metabolites isolated from myxobacteria, including the anti-cancer metabolite epothilone. We report the complete genome sequence of ...the model Sorangium strain S. cellulosum So ce56, which produces several natural products and has morphological and physiological properties typical of the genus. The circular genome, comprising 13,033,779 base pairs, is the largest bacterial genome sequenced to date. No global synteny with the genome of Myxococcus xanthus is apparent, revealing an unanticipated level of divergence between these myxobacteria. A large percentage of the genome is devoted to regulation, particularly post-translational phosphorylation, which probably supports the strain's complex, social lifestyle. This regulatory network includes the highest number of eukaryotic protein kinase-like kinases discovered in any organism. Seventeen secondary metabolite loci are encoded in the genome, as well as many enzymes with potential utility in industry.
Gillessen‐Kaesbach‐Nishimura syndrome (GIKANIS) is a congenital disease of glycosylation (CDG) linked to the ALG9 gene. GIKANIS is a lethal disorder characterized by atypical facial features, ...generalized skeletal changes with shortening of the long bones with broad, round metaphyses, round ilia, and deficient ossification of the skull, cervical spine and pubic bones, and visceral abnormalities including polycystic kidneys and congenital cardiac defects. GIKANIS is caused by a homozygous splicing variant (c.1173 + 2 T > A) leading to skipping of exon 10, frameshift, and premature termination codon of the ALG9 gene. To our best knowledge, only two affected families with confirmed molecular analyses have been reported. We present an additional report on two siblings with the same mutation, emphasizing the prenatal ultrasonographic features. Their facial and skeletal manifestations recapitulated those previously reported. Ultrasonography revealed polycystic kidneys and unbalanced atrioventricular septal defect (AVSD) with transposition of the great arteries.
Nocturnal hypertension (NH) is an unsolved problem in hemodialysis (HD) patients. The effect of ultrafiltration (UF) on NH and myocardial performance has not been systematically investigated in HD ...patients.
Seventeen reverse-dipper (RD) HD patients were subjected to intensified UF. Before and after UF, echo-cardiographic and blood pressure (BP) measurements were taken.
Excluding daytime diastolic BP, all BP parameters (mmHg), namely daytime systolic BP (138.1 +/- 15.1; 131.1 +/- 12.5), night-time systolic BP (150.4 +/- 17.6; 125.3 +/- 16.5), night-time diastolic BP (87.3 +/- 10.3; 76.5 +/- 11.6), daytime pulse pressure (56.1 +/- 7.6; 50.5 +/- 5), night-time pulse pressure (63.3 +/- 9.4; 48.7 +/- 7), significantly decreased (p < 0.001 for all comparisons). Thirteen patients converted to non-dipper and two patients converted to dippers, whereas two patients remained on RD. Unit for measurement of diameters was mm. Ejection fractions (EF) increased (51.23 +/- 9.01; 64.05 +/- 7.23, p < 0.001), left atrial diameters (LAD) decreased (35 +/- 8.29; 32.05 +/- 7.12, p < 0.001), the vena cava inferior collapse index increased (VCICI) 24.82 +/- 8.20 (%); 51.76 +/- 9.65 (%), p < 0.001, left ventricular end-systolic (LVES) and diastolic diameters (LVED) decreased (3.19 +/- 0.60; 2.77 +/- 0.51, p < 0.001; 4.39 +/- 0.65; 4.18 +/- 0.56, p = 0.002, respectively). Percentage reduction in night-time diastolic BP correlated with the percentage reduction in LAD (p = 0.038). Percentage reduction in night-time pulse pressure correlated with the percentage increase in EF (p < 0.013). Similarly, percentage reductions in night-time systolic BP, night-time diastolic BP and night-time mean BP correlated with the percentage reduction in LVESD (p = 0.014, p < 0.001 and p = 0.001, respectively).
NH in HD patients is a volume dependent phenomenon. Improved night-time BP parameters have a more profound effect on myocardial function than daytime BP parameters.
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