The genetic causes of premature ovarian failure (POF) are highly heterogeneous, and causative mutations have been identified in more than ten genes so far. In two families affected by POF accompanied by hearing loss (together, these symptoms compose Perrault syndrome), exome sequencing revealed mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase: homozygous c.1565C)A (p.Thr522Asn) in a consanguineous Palestinian family and compound heterozygous c.1077delT and c.1886C)T (p.Thr629Met) in a nonconsanguineous Slovenian family. LARS2 c.1077delT leads to a frameshift at codon 360 of the 901 residue protein. LARS2 p.Thr522Asn occurs in the LARS2 catalytic domain at a site conserved from bacteria through mammals. LARS2 p.Thr629Met occurs in the LARS2 leucine-specific domain, which is adjacent to a catalytic loop critical in all species but for which primary sequence is notwell conserved. A recently developed method of detecting remote homologies revealed threonine at this site in consensus sequences derived from multiple-species alignments seeded by human and E. coli residues at this region. Yeast complementation indicated that LARS2 c.1077delT is nonfunctionaland that LARS2 p.Thr522Asn is partially functional. LARS2 p.Thr629Met was functional in this assay but might be insufficient as a heterozygote with the fully nonfunctional LARS2 c.1077delT allele. A known C. elegans strain with the protein-truncating alteration LARS-2 p.Trp247Ter was confirmed to be sterile. After HARS2, LARS2 is the second gene encoding mitochondrial tRNA synthetase to be found to harbor mutations leading to Perrault syndrome, further supporting a critical role for mitochondria in the maintenance of ovarian function and hearing.
COBISS.SI-ID: 777388
Objective Power spectrum (PS) of uterine electromyography (EMG) can identify true labor. EMG propagation velocity (PV) to diagnose labor has not been reported. The objective was to compare uterine EMG against current methods to predict preterm delivery.Study design EMG was recorded in 116 patients (preterm labor, n=20; preterm non-labor, n=68; term labor, n=22; term non-labor, n=6). Studentʼs t-test was used to compare EMG values for labor vs.non-labor (P(0.05 significant). Predictive values of EMG, Bishop-score, contractions on tocogram, and transvaginal cervical length were calculated using receiver-operator-characteristics analysis.Results PV was higher in preterm and term labor compared with non-labor (P(0.001). Combined PV and PS peak frequency predicted preterm delivery within 7 days with area-under-the-curve (AUC) = 0.96. Bishop score, contractions, and cervical length had AUC of 0.72, 0.67, and 0.54.Conclusions Uterine EMG PV and PS peak frequency more accurately identify true preterm labor than clinical methods.
COBISS.SI-ID: 276908
The hippocampus is often injured in neonatal stroke. We have investigated the effect of erythropoietin (EPO) on oxygen-glucose deprived hippocampal slices and hypoxic progenitor cells. EPO improved survival of the organotypic hippocampal slices with significantly less cell death in the dentate gyrus andan increased number of proliferating cells 4-5 days after insult. Significantly fewer markers of neurogenesis were seen after the insult but when EPO was added to the culture medium, neurogenesis was sustained. When hippocampal progenitor cultures were stimulated into differentiation, more cells chose a neuronal cell fate when treated with EPO. These findings supportthe hypothesis that EPO not only prevents ischemia induced cell death but promotes neuronal cell fate committment in in-vitro models of neonatal stroke.
COBISS.SI-ID: 26507737
The article argues that rhetorical skills are an important quality factor of midwifery care. In particular, it aims to identify the relevance of three classical means of persuasion: ethos, pathos and logos; and discuss them from the perspective of contemporary concepts of “ethic of care”.
COBISS.SI-ID: 4142699
Objective: The purpose of this work was to compare the incidence of apnea, hypopnea, bradycardia, or oxygen desaturation in healthy term newborns placed in hospital cribs, infant car safety beds, or infant car safety seats. Methods: A consecutive series of 200 newborns was recruited on the second day of life. Each subject was studied while placed in the hospital crib (30 minutes), car bed (60 minutes), and car seat (60 minutes). Physiologic data, including oxygen saturation, frequency, and type of apnea, hypopnea, and bradycardia were obtained and analyzed in a blinded manner. Results: The mean oxygen saturation level was significantly different among all of the positions(97.9% for the hospital crib, 96.3% for the car bed, and 95.7% for the car seat; P ( .001). The mean minimal oxygen saturation level was lower while in both safety devices (83.7% for the car bed and 83.6% for the car seat) compared with in the hospital crib (87.4%) (P ( .001). The mean total time spent with an oxygen saturation level of (95% was significantly higher (P= .003) in both safety devices (car seat: 23.9%; car bed: 17.2%) when compared with the hospital crib (6.5%). A second study of 50 subjects in whicheach infant was placed in each position for 120 minutes yielded similar results. Conclusions: In healthy term newborns, significant desaturations wereobserved in both car beds and car seats as compared with hospital cribs. This study was limited by lack of documentation of sleep stage. Therefore, these safety devices should only be used for protection during travel and not as replacements for cribs.
COBISS.SI-ID: 26146521