Youngwest0652

Generalized lymphatic dysplasia (GLD), characterized by lymphedema, lymphangiectasias, chylothorax, effusions, represents a recognized cause of fetal hydrops. We describe for the first time recurrent pregnancies showing different ultrasound presentations of lymphatic dysplasia. The first fetus displayed diffuse subcutaneous cysts and septations while the second one presented fetal hydrops. Exome sequencing results at 18 gestational weeks in the second pregnancy showed compound heterozygosity for two novel PIEZO1 variants, afterwards detected also in the first fetus and in the heterozygous parents. Both ultrasound and genetic findings expand the current knowledge of PIEZO1-related GLD. We suggest exome sequencing in hydropic fetuses with normal cytogenetics and in pregnancies with recurrent hydrops/lymphatic dysplasia.Cockayne syndrome (CS) is a multisystem degenerative disorder divided in 3 overlapping subtypes, with a continuous phenotypic spectrum CS2 being the most severe form, CS1 the classical form and CS3 the late-onset form. Failure to thrive and growth difficulties are among the most consistent features of CS, leaving affected individuals vulnerable to numerous medical complications, including adverse effects of undernutrition, abrupt overhydration and overfeeding. There is thus a significant need for specific growth charts. We retrospectively collected growth parameters from genetically-confirmed CS1 and CS2 patients, used the GAMLSS package to construct specific CS growth charts compared to healthy children from WHO and CDC databases. Growth data were obtained from 88 CS patients with a total of 1626 individual growth data points. 49 patients were classified as CS1 and 39 as CS2 with confirmed mutations in CSB/ERCC6, CSA/ERCC8 or ERCC1 genes. Individuals with CS1 initially have normal growth parameters; microcephaly occurs from 2 months whereas onset of weight and height restrictions appear later, between 5 and 22 months. In CS2, growth parameters are already below standard references at birth or drop below the 5th percentile before 3 months. Microcephaly is the first parameter to show a delay, appearing around 2 months in CS1 and at birth in CS2. Height and head circumference are more severely affected in CS2 compared to CS1 whereas weight curves are similar in CS1 and CS2 patients. These new growth charts will serve as a practical tool to improve the nutritional management of children with CS.

Reports on pediatric lifetime concussions/head injuries (LCHI) from national surveys have offered estimates on prevalence that range from 2.5% to 18% in the general population. Selleckchem Crenolanib The purpose of this study is to examine national surveys to compare methodologies and limitations pertaining to LCHI data collection.

Three nationally representative surveys that measure LCHI in children, including the National Survey of Children's Health, the National Health Interview Survey, and the Monitoring the Future Survey were examined. Children were grouped by ages 3-17years and adolescent ages 13-17years, stratified by selected demographic characteristics. Participants in the surveys included parents (NSCH and NHIS) and adolescents (MTF survey). The primary outcome measure is an estimate of LCHI in children.

Estimates of prevalence of LCHI ranged from 3.6% to 7.0% for children ages 3-17years and from 6.5% to 18.3% for adolescents 13-17years. Survey modality, question wording, and respondent may contribute to differing estimates. Prevalence showed consistent variation by age, sex, and race/ethnicity across surveys. Associations were inconsistent between LCHI and insurance status, parental education, and household primary language.

Although there are methodological differences in capturing pediatric LCHI across surveys, the prevalence estimates and correlational associations generated can offer awareness about the burden of these injuries and insights to research and clinical care.

Although there are methodological differences in capturing pediatric LCHI across surveys, the prevalence estimates and correlational associations generated can offer awareness about the burden of these injuries and insights to research and clinical care.Nonalcoholic fatty liver disease (NAFLD) is a global public health problem linked to the rising prevalence of obesity and metabolic disorders.1 Accurate estimates of NAFLD in populations are challenging because the gold standard for detection is liver biopsy, an invasive procedure that precludes its use in research settings.2 NAFLD can also be detected via noninvasive imaging, such as ultrasound, magnetic resonance imaging-determined proton density fat fraction, magnetic resonance spectroscopy, and the controlled attenuation parameter derived via transient elastography (CAP-TE).2 Given the complexities of imaging in population studies, however, many estimates have been based on calculated indices, such as the Fatty Liver Index (FLI)3 and the Hepatic Steatosis Index (HSI).4 Concern has been raised that the indices underestimate the prevalence of NAFLD,5 thus downplaying the scope of the public health challenge. Ability to examine whether these concerns are substantive has been provided by a recent study of the US population. Using data from the study, it was reported that the US prevalence of CAP-TE-determined NAFLD was 47.8%.6 The current analysis used data from the same national study to examine how well the fatty liver indices corresponded to CAP-TE-determined NAFLD. Because most persons with NAFLD reportedly have elevated alanine aminotransferase (ALT) levels,7 the correspondence between elevated ALT and CAP-TE was also examined.

Limited data exist on the management of anticoagulation after hospitalization for gastrointestinal bleeding (GIB) and the risks of recurrent GIB and thromboembolism in patients who are prescribed warfarin vs direct oral anticoagulants (DOACs). The purpose of this study was to assess the risk of recurrent GIB and thromboembolism with resumption of anticoagulation after GIB.

This was a retrospective analysis of adults with atrial fibrillation prescribed warfarin or DOACs and subsequently hospitalized for GIB. We used claims data from IBM MarketScan Databases from January 2008 through December 2017. Multivariable time-varying regression was used to determine the risks of recurrent GIB and thromboembolism within 6 months of the index hospitalization.

There were 2991 patients hospitalized for GIB on anticoagulants (warfarin, n= 1872; rivaroxaban, n= 676; dabigatran, n= 293; and apixaban, n= 250). Of warfarin users, 46% (n= 869) resumed warfarin after discharge compared with 43% (n= 483) of DOAC users who resumed DOACs.