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Item type:Publication, Severe
<scp>SOPH</scp>
syndrome due to a novel
<i>NBAS</i>
mutation in a
<scp>27‐year‐old</scp>
woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades(2020) ;Yves Lacassie ;Britt Johnson ;Guillermo Lay‐Son ;Rita QuintanaAndrew King12Scopus© Citations 13 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Under five and infant mortality in Chile (1990-2016): Trends, disparities, and causes of death(2020); ;Gloria Icaza; ;Loreto VillanuevaScopus© Citations 15 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction(2020) ;Masamune Sakamoto ;Den Kouhei ;Muzhirah Haniffa ;Sebastián SilvaMónica Troncoso9Scopus© Citations 16 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Local pulmonary drug delivery in the preterm rabbit: feasibility and efficacy of daily intratracheal injections(2019) ;Thomas Salaets ;André Gie; ;Margo AertgeertsOlivier Gheysens<jats:p> Recent clinical trials in newborns have successfully used surfactant as a drug carrier for an active compound, to minimize systemic exposure. To investigate the translational potential of surfactant-compound mixtures and other local therapeutics, a relevant animal model is required in which intratracheal administration for maximal local deposition is technically possible and well tolerated. Preterm rabbit pups (born at 28 days of gestation) were exposed to either hyperoxia or normoxia and randomized to receive daily intratracheal surfactant, daily intratracheal saline, or no injections for 7 days. At day 7, the overall lung function and morphology were assessed. Efficacy in terms of distribution was assessed by micro-PET-CT on both day 0 and day 7. Lung function as well as parenchymal and vascular structure were altered by hyperoxia, thereby reproducing a phenotype reminiscent of bronchopulmonary dysplasia (BPD). Neither intratracheal surfactant nor saline affected the survival or the hyperoxia-induced BPD phenotype of the pups. Using PET-CT, we demonstrate that 82.5% of the injected radioactive tracer goes and remains in the lungs, with a decrease of only 4% after 150 min. Surfactant and saline can safely and effectively be administered in spontaneously breathing preterm rabbits. The described model and method enable researchers to evaluate intratracheal pharmacological interventions for the treatment of BPD. </jats:p>Scopus© Citations 21 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Effect of Thyromimetic GC-1 Selective Signaling on Reproductive and Lactational Performance in the Hypothyroid Rat(2021) ;Estefanía Rinaldini ;Fiorella Campo Verde Arboccó; ;Carlos Gamarra-LuquesMaría Belén Hapon<jats:p><b><i>Introduction:</i></b> The potential of the thyroid hormone receptor β (TRβ1) selective analog GC-1 has been widely proven in animal models and humans. However, its effect on the reproductive stage of the female rat has not been evaluated. <b><i>Methods:</i></b> The effect of the administration of GC-1 or equimolar doses of triiodothyronine (T3) was evaluated on the reproductive performance of the hypothyroid female rat and the indirect effect on pup thyroid status, weight, and survival. <b><i>Results:</i></b> Hypothyroidism reduced the number of embryos implanted in the uterus, whereas T3 and GC-1 treatment in hypothyroid females reestablished the number of implanted embryos to normal. Initiation of labor was delayed by hypothyroidism, and T3 replacement treatment reinstated the normal timing of parturition. The administration of GC-1 alone to the lactating mother did not affect pup survival, weight, or thyroidal status. <b><i>Conclusions:</i></b> Our findings show the differential effect of thyroid hormone selective signaling during gestation and the indirect exposure of the pups; we also emphasize the plausible use of GC-1 for treatment of hypothyroid mothers during the lactation period. </jats:p>13Scopus© Citations 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Chorionic Bump: An Early Ultrasound Marker for Adverse Obstetric Outcome(2019) ;María Carolina Silva ;Alvaro Sepúlveda-Martínez ;Rodolfo Guíñez ;María Teresa HayeMauro Parra-Cordero<jats:p><b><i>Backgrounds/Aims:</i></b> To assess the perinatal outcome of pregnancies with chorionic bump detected at the first trimester of pregnancy. <b><i>Methods:</i></b> This was a nested case-control study of pregnancies with chorionic bump identified at the first trimester ultrasound that was performed from October 2014 and October 2016. The control group consisted of the following 5 unaffected pregnancies after each case. From the first trimester ultrasound, maternal and perinatal characteristics were obtained and stored in a dedicated database. The primary outcome was defined as the presence of an alive new-born. Secondary outcome was defined as the presence of a composite adverse obstetric outcome. <b><i>Results</i></b>: Eleven first trimester pregnancies affected by a chorionic bump and 55 controls were identified. The primary outcome was observed in 72.7 and 89.1% of chorionic bump and controls respectively (<i>p</i> = 0.2). The secondary outcome was observed in 45.5% of pregnancies with a chorionic bump versus 12.7% in the unaffected group (<i>p</i> = 0.01). First trimester uterine artery Doppler demonstrated a non-significant trend to be higher in the chorionic bump group. <b><i>Conclusions:</i></b> The presence of a chorionic bump is associated with a significant higher risk of adverse perinatal outcome.</jats:p>Scopus© Citations 11 2