Quinnshields5913

The mothers assumption of vitamin D and zinc positively correlated with bone status and mothers with very low intake of vitamin D during gestation (<7 µg/die) had preterm newborns with a worst bone status at birth compared to those with a better intake (>7 µg/die).

Nutrition of pregnant women could be improved and maternal intakes of Vitamin D and zinc positively correlated with preterm newborn's bone status.

Nutrition of pregnant women could be improved and maternal intakes of Vitamin D and zinc positively correlated with preterm newborn's bone status.

The hexokinase 1 (

) gene encodes one of the four human hexokinases that play essential roles in glucose metabolism. Recently, several cases of E847K mutation in the

gene were reported to cause inherited retinal dystrophy. The purpose of this study was to identify the phenotypical characteristics of patients with a recurrent E847K mutation in the

gene.

Three generations of one family with autosomal dominant retinitis pigmentosa were examined. Whole exome sequencing was performed on the DNA. Fundus imaging by an adaptive optics fundus camera was used to obtain high-resolution photoreceptor images.

Fundus examination of the proband showed degeneration of the mid-peripheral retina, and SD-OCT images showed an absence of the ellipsoid zone (EZ) and interdigitation zone (IZ) in the parafovea and more peripherally. SD-OCT images of the mother of the proband showed an absence of the EZ and IZ, and fundus autofluorescence images showed hypo-autofluorescence surrounding the macular region. One daughter of the proband had only mild night blindness, however, the density of the cone photoreceptors was reduced in the parafoveal region. Whole exome sequencing identified a heterozygous variant, E847K, in the

gene. This variant was found to co-segregate with the disease in three family members.

Although the systemic phenotypes were found to be associated with the

mutations, only the E847K mutation can cause a non-syndromic photoreceptor degeneration. Our study strengthened the hypothesis that the amino acid E847 might play a critical role in the maintenance of the morphology and function of the photoreceptors.

Although the systemic phenotypes were found to be associated with the HK1 mutations, only the E847K mutation can cause a non-syndromic photoreceptor degeneration. Our study strengthened the hypothesis that the amino acid E847 might play a critical role in the maintenance of the morphology and function of the photoreceptors.Background Mathematical optimization of automated external defibrillator (AED) placement may improve AED accessibility and out-of-hospital cardiac arrest (OHCA) outcomes compared with American Heart Association (AHA) and European Resuscitation Council (ERC) placement guidelines. We conducted an in silico trial (simulated prospective cohort study) comparing mathematically optimized placements with placements derived from current AHA and ERC guidelines, which recommend placement in locations where OHCAs are usually witnessed. Methods and Results We identified all public OHCAs of presumed cardiac cause from 2008 to 2016 in Copenhagen, Denmark. For the control, we computationally simulated placing 24/7-accessible AEDs at every unique, public, witnessed OHCA location at monthly intervals over the study period. The intervention consisted of an equal number of simulated AEDs placements, deployed monthly, at mathematically optimized locations, using a model that analyzed historical OHCAs before that month. For each approach, we calculated the number of OHCAs in the study period that occurred within a 100-m route distance based on Copenhagen's road network of an available AED after it was placed ("OHCA coverage"). Estimated impact on bystander defibrillation and 30-day survival was calculated by multivariate logistic regression. The control scenario involved 393 AEDs at historical, public, witnessed OHCA locations, covering 15.8% of the 653 public OHCAs from 2008 to 2016. The optimized locations provided significantly higher coverage (24.2%; P less then 0.001). Estimated bystander defibrillation and 30-day survival rates increased from 15.6% to 18.2% (P less then 0.05) and from 32.6% to 34.0% (P less then 0.05), respectively. As a baseline, the 1573 real AEDs in Copenhagen covered 14.4% of the OHCAs. Conclusions Mathematical optimization can significantly improve OHCA coverage and estimated clinical outcomes compared with a guidelines-based approach to AED placement.

To evaluate maternal and fetal outcomes in women with Gitelman syndrome (GS).

Retrospective analysis of the clinical data of five patients with the clinical diagnosis of GS during pregnancy, who were admitted to Beijing Shijitan Hospital, Capital Medical University between 2013 and 2019, was conducted.

Five women with GS during pregnancy who finally gave birth to a total of eight newborns have been included. Three cases were primiparas and two cases were multiparas. Two cases were diagnosed before pregnancy and three cases were diagnosed in first or second trimester. The primary treatment was oral or intravenous electrolytes supplement. Three patients delivered through the vagina, and shoulder dystocia occurred in one patient. Two patients delivered by cesarean section, with one because of symptom of limb weakness during the course of labor and the other owing to gestational diabetes with fetal macrosomia. Postpartum hemorrhage and urinary retention were not reported in these cases. compound library inhibitor In perinatal period all the infants had good outcome. The children, aged between six months and five years, were healthy and well-developed during follow-up.

The maternal and perinatal outcome is usually favorable. We should pay attention to electrolyte examination in the first trimester in order to diagnose and manage the GS efficiently. Well-controlled patients with Gitelman syndrome can deliver through the vagina.

The maternal and perinatal outcome is usually favorable. We should pay attention to electrolyte examination in the first trimester in order to diagnose and manage the GS efficiently. Well-controlled patients with Gitelman syndrome can deliver through the vagina.