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https://www.readbyqxmd.com/read/29245109/autosomal-recessive-hypercholesterolemia-in-spain
#1
Rosa María Sánchez-Hernández, Pablo Prieto-Matos, Fernando Civeira, Eduardo Esteve Lafuente, Manuel Frías Vargas, José T Real, Fernando Goñi Goicoechea, Francisco J Fuentes, Miguel Pocovi, Mauro Boronat, Ana María Wägner, Luis Masana
BACKGROUND AND AIMS: Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). It is characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature cardiovascular disease. We aimed to characterize ARH in Spain. METHODS: Data were collected from the Dyslipidemia Registry of the Spanish Atherosclerosis Society. A literature search was performed up to June 2017, and all diagnostic genetic studies for familial hypercholesterolemia of Spain were reviewed...
December 6, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29245026/ketogenic-diet-induced-extension-of-longevity-in-epileptic-kcna1-null-mice-is-influenced-by-gender-and-age-at-treatment-onset
#2
Kyoung-Chul Chun, Shun-Chieh Ma, Hyoungil Oh, Jong M Rho, Do Young Kim
Sudden unexpected death in epilepsy (SUDEP) is a leading cause of premature mortality in patients with epilepsy, and has been linked to multiple risk factors, including gender and early age at seizure onset. Despite the lack of a targeted therapy for SUDEP, it has recently been shown that a high-fat, low carbohydrate ketogenic diet (KD) enhances longevity in the epileptic Kcna1-null (KO) mouse, a validated model of SUDEP. Here, we asked whether the KD-driven prolongation of lifespan in KO mice is dependent on sex and/or age at treatment onset...
November 21, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29244865/the-arabidopsis-thaliana-f-box-gene-hawaiian-skirt-is-a-new-player-in-the-microrna-pathway
#3
Xuebin Zhang, Dasuni Jayaweera, Janny L Peters, Judit Szecsi, Mohammed Bendahmane, Jeremy A Roberts, Zinnia H González-Carranza
In Arabidopsis, the F-box HAWAIIAN SKIRT (HWS) protein is important for organ growth. Loss of function of HWS exhibits pleiotropic phenotypes including sepal fusion. To dissect the HWS role, we EMS-mutagenized hws-1 seeds and screened for mutations that suppress hws-1 associated phenotypes. We identified shs-2 and shs-3 (suppressor of hws-2 and 3) mutants in which the sepal fusion phenotype of hws-1 was suppressed. shs-2 and shs-3 (renamed hst-23/hws-1 and hst-24/hws-1) carry transition mutations that result in premature terminations in the plant homolog of Exportin-5 HASTY (HST), known to be important in miRNA biogenesis, function and transport...
2017: PloS One
https://www.readbyqxmd.com/read/29244802/elevations-of-inflammatory-proteins-in-neonatal-blood-are-associated-with-obesity-and-overweight-among-2-year-old-children-born-extremely-premature
#4
Eliana M Perrin, T Michael O'Shea, Asheley Cockrell Skinner, Carl Bose, Elizabeth N Allred, Raina N Fichorova, Jelske W van der Burg, Alan Leviton
BACKGROUND: Childhood obesity is associated with elevated blood concentrations of inflammation markers. It is not known to what extent inflammation precedes the development of obesity. METHODS: In a cohort of 882 infants born before 28 weeks of gestation, we examined relationships between concentrations of 25 inflammation-related proteins in blood obtained during the first two postnatal weeks and body mass index at 2 years of age. RESULTS: Among children delivered for spontaneous indications (n=734), obesity was associated with elevated concentrations of four proteins (IL-1β, IL-6, TNF-R1, and MCP-1) on the first postnatal day; one protein (IL-6) on postnatal day 7; and two proteins (ICAM-3 and VEGF-R1) on postnatal day 14...
December 15, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29244620/calming-cycle-theory-and-the-co-regulation-of-oxytocin
#5
Martha G Welch, Robert J Ludwig
The biological functions of oxytocin in attachment and bonding between mother and infant in parturition and breastfeeding and between adults have been studied extensively. However, most current authors have proposed that infant attachment to the mother is learned through operant conditioning mechanisms via the infant's brain and central nervous system. We propose that oxytocin levels in the mother and infant are co-regulated by emotional connection or disconnection, and that the autonomic co-conditioning learning mechanism can be exploited to change a negative physiological and behavioral response between mother and infant into a positive one...
2017: Psychodynamic Psychiatry
https://www.readbyqxmd.com/read/29243972/endoscopic-third-ventriculostomy-and-choroid-plexus-cauterization-in-infant-hydrocephalus-a-prospective-study-by-the-hydrocephalus-clinical-research-network
#6
Abhaya V Kulkarni, Jay Riva-Cambrin, Curtis J Rozzelle, Robert P Naftel, Jessica S Alvey, Ron W Reeder, Richard Holubkov, Samuel R Browd, D Douglas Cochrane, David D Limbrick, Tamara D Simon, Mandeep Tamber, John C Wellons, William E Whitehead, John R W Kestle
OBJECTIVE High-quality data comparing endoscopic third ventriculostomy (ETV) with choroid plexus cauterization (CPC) to shunt and ETV alone in North America are greatly lacking. To address this, the Hydrocephalus Clinical Research Network (HCRN) conducted a prospective study of ETV+CPC in infants. Here, these prospective data are presented and compared to prospectively collected data from a historical cohort of infants treated with shunt or ETV alone. METHODS From June 2014 to September 2015, infants (corrected age ≤ 24 months) requiring treatment for hydrocephalus with anatomy suitable for ETV+CPC were entered into a prospective study at 9 HCRN centers...
December 15, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29243847/utility-of-complete-blood-count-parameters-to-detect-premature-ovarian-insufficiency-in-cases-with-oligomenorrhea-amenorrhea
#7
Ilhan Sanverdi, Cetin Kilicci, Ebru Cogendez, Cigdem Abide Yayla, Enis Ozkaya
BACKGROUND: There are very few biomarkers available to diagnose cases with premature ovarian failure. Some complete blood count parameters have been introduced to be diagnostic biomarkers for several disorders associated with inflammatory process. Due to the evidence that indicated chronic inflammatory process to be underlying pathophysiology in premature ovarian insufficiency (POI), we aimed to assess the predictive value of complete blood count parameters for POI diagnosis. METHOD: A total of 96 women diagnosed to have premature ovarian failure were compared with 110 otherwise healthy women in terms of some basal hormone levels and complete blood count parameters...
December 15, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29243318/effect-of-maturity-and-infection-on-the-rate-of-relaxation-of-the-respiratory-muscles-in-ventilated-newborn-infants
#8
Theodore Dassios, Ourania Kaltsogianni, Paul Dixon, Anne Greenough
AIM: To assess the respiratory muscle time constant of relaxation (τ), an index of respiratory muscle function in ventilated newborns. METHODS: Sixty-two infants (42 born prematurely) with a median gestational age of 29 [interquartile range (IQR) 26-37] weeks were prospectively studied. Measurement of τ was done during spontaneous breathing on endotracheal continuous positive airway pressure prior to extubation and τ was calculated from the reciprocal of the slope of the airway pressure decline versus time...
December 15, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29243312/duration-of-anaemia-during-the-first-week-of-life-is-an-independent-risk-factor-for-retinopathy-of-prematurity
#9
Pia Lundgren, Sam E Athikarisamy, Sanjay Patole, Geoffrey C Lam, Lois E Smith, Karen Simmer
AIM: This study evaluated the correlation between retinopathy of prematurity (ROP), anaemia and blood transfusions in extremely preterm infants. METHODS: We included 227 infants born below 28 weeks of gestation at King Edward Memorial Hospital, Perth, Australia, from 2014-2016. Birth characteristics and risk factors for ROP were retrieved and anaemia and severe anaemia were defined as a haemoglobins of <110 g/L and <80 g/L, respectively. Logistic regression was used for the analysis...
December 15, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29243290/a-non-coding-variant-in-ganab-explains-isolated-polycystic-liver-disease-pcld-in-a-large-family
#10
Whitney Besse, Jungmin Choi, Dina Ahram, Shrikant Mane, Simone Sanna-Cherchi, Vicente Torres, Stefan Somlo
Expanded mutation detection and novel gene discovery for isolated polycystic liver disease (PCLD) are necessary as 50% of cases do not have identified mutations in the seven published disease genes. We investigated a family with 5 affected siblings for which no loss of function variants were identified by whole exome sequencing analysis. SNP genotyping and linkage analysis narrowed the candidate regions to ∼8% of the genome, which included two published PCLD genes in close proximity to each other, GANAB and LRP5...
December 15, 2017: Human Mutation
https://www.readbyqxmd.com/read/29243234/equine-gestational-length-and-location-is-there-more-that-the-research-could-be-telling-us
#11
REVIEW
J Clothier, G Hinch, W Brown, A Small
Clear definitions of 'normal' equine gestation length (GL) are elusive, with GL being subject to a considerable number of internal and external variables that have confounded interpretation and estimation of GL for over 50 years. Consequently, the mean GL of 340 days first established by Rossdale in 1967 for Thoroughbred horses in northern Europe continues to be the benchmark value referenced by veterinarians, breeders and researchers worldwide. Application of a 95% confidence limit to reported GL range values indicates a possible connection between geographic location and GL...
December 2017: Australian Veterinary Journal
https://www.readbyqxmd.com/read/29242936/role-of-maternal-race-on-algorithms-predicting-retinopathy-of-prematurity
#12
Roshni Bhudia
No abstract text is available yet for this article.
December 14, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29242908/changes-in-relative-position-of-choroidal-versus-retinal-vessels-in-preterm-infants
#13
Sang Jin Kim, J Peter Campbell, Susan Ostmo, Karyn E Jonas, R V Paul Chan, Michael F Chiang
Purpose: The purpose of this study was to characterize a novel finding that relative positions of choroidal and retinal vessels change over time in preterm infants and to identify factors associated with this finding using quantitative analysis. Methods: Fundus images were obtained prospectively through a retinopathy of prematurity (ROP) cohort study. Images were excluded if choroidal vessels could not be identified. Changes in relative position of characteristic choroidal landmarks with respect to retinal vessels between two time points 5 to 7 weeks apart were measured...
December 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29242892/role-of-maternal-race-on-algorithms-predicting-retinopathy-of-prematurity-reply
#14
Gil Binenbaum, Gui-Shuang Ying
No abstract text is available yet for this article.
December 14, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29242787/foot-deformities-in-hajdu-cheney-syndrome-a-rare-case-report-and-review-of-the-literature
#15
Ashish B Shah, Breann K Tisano, Osama Elattar, Jackson Rucker Staggers, Sameer Naranje
Introduction: Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, micrognathia, short stature, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet. Very few cases have been earlier reported in the literature...
September 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29242573/extremely-premature-birth-informed-written-consent-and-the-greek-ideal-of-sophrosyne
#16
Joseph W Kaempf, Kevin Dirksen
Most extremely premature infants die in the intensive care unit or suffer significant neurologic impairment. Many therapies result in unhealthy consequences, and the emotional and financial turmoil for families warrant reappraisal of our motives. Shared decision-making and informed consent in preference-sensitive conditions imply the family: (a) understands the medical problem, (b) grasps the risks and benefits of each therapy, (c) has the opportunity to ask questions and reflect upon options, (d) knows their values and preferences are understood, and (e) accepts or declines therapies without judgment or penalty...
December 15, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29242184/sex-differences-in-treatments-relative-survival-and-excess-mortality-following-acute-myocardial-infarction-national-cohort-study-using-the-swedeheart-registry
#17
Oras A Alabas, Chris P Gale, Marlous Hall, Mark J Rutherford, Karolina Szummer, Sofia Sederholm Lawesson, Joakim Alfredsson, Bertil Lindahl, Tomas Jernberg
BACKGROUND: This study assessed sex differences in treatments, all-cause mortality, relative survival, and excess mortality following acute myocardial infarction. METHODS AND RESULTS: A population-based cohort of all hospitals providing acute myocardial infarction care in Sweden (SWEDEHEART [Swedish Web System for Enhancement and Development of Evidence-Based Care in Heart Disease Evaluated According to Recommended Therapies]) from 2003 to 2013 was included in the analysis...
December 14, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29242159/an-implantable-depot-capable-of-in-situ-generation-of-micelles-to-achieve-controlled-and-targeted-tumor-chemotherapy
#18
Xiaoming Luo, Maohua Chen, Zhoujiang Chen, Songzhi Xie, Nan He, Tao Wang, Xiaohong Li
Camptothecin (CPT)-containing promicelle polymers (PMCPT) based on 4-armed poly(ethylene glycol) (PEG) were developed previously to self-assemble into folate-targeted and glutathione (GSH)-sensitive micelles (MCPT). To address severe systemic toxicity and lack of tumor specificity implicated in the intravenous administration of MCPT, a micelle-generating depot has been developed by blend electrospinning of PEG-poly(lactide) (PELA) copolymers, PMCPT and polyethylene oxide (PEO). Upon implantation of the depot onto the tumor, PMCPT are sustainably released to spontaneously form MCPT on the tumor site...
December 11, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/29241965/perinatal-hemorrhage-from-ulceration-of-the-umbilical-cord-a-potentially-catastrophic-association-with-duodenal-and-jejunal-obstruction
#19
Danielle Aronowitz, Stephen Dolgin, Eran Bornstein, Amanda Little-Richardson, Jaya Bajaj, Alex Williamson, Esperanza Naves-Ruiz, Morris Edelman
PURPOSE: The purpose of this study is to review published reports and contribute new cases of umbilical cord ulceration (UCU) with perinatal hemorrhage into the amniotic cavity in the setting of duodenal or jejunal obstruction because knowledge of this sequence is poorly disseminated and could be lifesaving. METHODS: Published reports of UCU with hemorrhage associated with congenital duodenal or jejunal obstruction were reviewed. Chart review was conducted for the cases encountered at our institutions between January 2008 and March 2017...
November 21, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29241963/negative-pressure-wound-therapy-in-pediatric-surgery-how-and-when-to-use
#20
REVIEW
Lisieux Eyer de Jesus, Alana Bandeira Martins, Pablo Baptista Oliveira, Fernanda Gomes, Thais Leve, Samuel Dekermacher
INTRODUCTION: Negative pressure wound therapy (NPWT) has been widely adopted to treat laparostomy, abdominal compartment syndrome (ACS) and complicated wounds associated with tissue loss. The method presents specific aspects, advantages and indications in Pediatrics. Our aim is to review the evidence available about NPWT in children. METHODS: Active search for papers about NPWT in Pediatric patients. Papers referring to orthopedic problems, wound complications after Cardiac Surgery or burns were excluded...
November 21, 2017: Journal of Pediatric Surgery
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