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Williams syndrome

Souheil El-Chemaly, Kevin J O'Brien, Steven D Nathan, Gerald L Weinhouse, Hilary J Goldberg, Jean M Connors, Ye Cui, Todd L Astor, Philip C Camp, Ivan O Rosas, Merte Lemma, Vladislav Speransky, Melissa A Merideth, William A Gahl, Bernadette R Gochuico
Pulmonary fibrosis is a progressive, fatal manifestation of Hermansky-Pudlak syndrome (HPS). Some patients with advanced HPS pulmonary fibrosis undergo lung transplantation despite their disease-associated bleeding tendency; others die while awaiting donor organs. The objective of this study is to determine the clinical management and outcomes of a cohort with advanced HPS pulmonary fibrosis who were evaluated for lung transplantation. Six patients with HPS-1 pulmonary fibrosis were evaluated at the National Institutes of Health Clinical Center and one of two regional lung transplant centers...
2018: PloS One
Chien Wen Su, Chih-Yu Chen, Yali Li, Shao Rong Long, William Massey, Deepak Vijaya Kumar, W Allan Walker, Hai Ning Shi
Epidemiological studies indicate an inverse correlation between the prevalence of the so-called western diseases, such as obesity and metabolic syndrome, and the exposure to helminths. Obesity, a key risk factor for many chronic health problems, is rising globally and is accompanied by low-grade inflammation in adipose tissues. The precise mechanism by which helminths modulate metabolic syndrome and obesity is not fully understood. We infected high fat diet (HFD)-induced obese mice with the intestinal nematode parasite Heligmosomoides polygyrus and observed that helminth infection resulted in significantly attenuated obesity...
March 15, 2018: Scientific Reports
Michael C Mongé, Osama M Eltayeb, John M Costello, Joyce T Johnson, Andrada R Popescu, Cynthia K Rigsby, Carl L Backer
BACKGROUND: Controversy remains regarding the optimal surgical approach for children with supravalvular aortic stenosis (SVAS). METHODS: Since 1997 we have used Brom three-patch aortoplasty for patients with SVAS. We prefer computed tomography (CT) imaging for preoperative evaluation rather than cardiac catheterization as it avoids the well-known morbidity of general anesthesia. The purpose of this study was to present our intermediate-term results of this strategy...
March 2018: World Journal for Pediatric & Congenital Heart Surgery
Anushka C Galasiti Kankanamalage, Yunjeong Kim, Vishnu C Damalanka, Athri D Rathnayake, Anthony R Fehr, Nurjahan Mehzabeen, Kevin P Battaile, Scott Lovell, Gerald H Lushington, Stanley Perlman, Kyeong-Ok Chang, William C Groutas
There are currently no approved vaccines or small molecule therapeutics available for the prophylaxis or treatment of Middle East Respiratory Syndrome coronavirus (MERS-CoV) infections. MERS-CoV 3CL protease is essential for viral replication; consequently, it is an attractive target that provides a potentially effective means of developing small molecule therapeutics for combatting MERS-CoV. We describe herein the structure-guided design and evaluation of a novel class of inhibitors of MERS-CoV 3CL protease that embody a piperidine moiety as a design element that is well-suited to exploiting favorable subsite binding interactions to attain optimal pharmacological activity and PK properties...
March 6, 2018: European Journal of Medicinal Chemistry
Miyuru Chandradasa, Shehan Williams
The trichorhinophalangeal syndrome is a rare genetic disorder with a classical clinical triad of sparse hair, bulbous nose, and short digits. There are three known phenotypes, and the type II with exostoses in long bones is known as Langer-Giedion syndrome. Here, we describe a 28-year-old Sri Lankan male with Langer-Giedion syndrome and high-functioning autism. The karyotype found a microdeletion of the long arm of chromosome 8 with mosaicism [46,XY/46,XY,del(8)(q24.1q24.3)]. This is probably the first report of Langer-Giedion Syndrome with autism and the first report of the genetic syndrome from Sri Lanka...
March 13, 2018: Psychiatric Genetics
William Virgil Brown, Ira Goldberg, Barton Duell, Daniel Gaudet
Plasma triglyceride concentrations are normally below 150 mg/dL in the fasting state. However, these lipids can reach values of several thousand mg/dL. Elevations in this range are due to a massive retention of chylomicrons and usually result from multiple genetic variants with superimposed influences such as diabetes and immune disorders. Less commonly, major gene defects in lipoprotein metabolism can be the cause. These may present soon after birth with strong evidence of familial penetrance. The causes of this syndrome have been discussed in a Roundtable published in the most recent issue of this Journal...
March 5, 2018: Journal of Clinical Lipidology
Xuejin Zhang, Chi Yong Kim, Tori Worthen, William H Witola
Cryptosporidium is a highly prevalent protozoan parasite that is the second leading cause of childhood morbidity and mortality due to diarrhea in developing countries, and causes a serious diarrheal syndrome in calves, lambs and goat kids worldwide. Development of fully effective drugs against Cryptosporidium has mainly been hindered by the lack of genetic tools for functional characterization and validation of potential molecular drug targets in the parasite. Herein, we report the development of a morpholino-based in vivo approach for Cryptosporidium parvum gene knockdown to facilitate determination of the physiological roles of the parasite's genes in a murine model...
March 9, 2018: International Journal for Parasitology
William Bortcosh, Ashkon Shaahinfar, Sakina Sojar, Jean E Klig
PURPOSE OF REVIEW: The diagnostic capability, efficiency and versatility of point-of-care ultrasound (POCUS) have enabled its use in paediatric emergency medicine (PEM) and paediatric critical care (PICU). This review highlights the current applications of POCUS for the critically ill child across PEM and PICU to identify areas of progress and standardized practice and to elucidate areas for future research. RECENT FINDINGS: POCUS technology continues to evolve and advance bedside clinical care for critically ill children, with ongoing research extending its use for an array of clinical scenarios, including respiratory distress, trauma and dehydration...
March 9, 2018: Current Opinion in Pediatrics
Andrew G Lee, Thomas H Mader, C Robert Gibson, Tyson J Brunstetter, William J Tarver
Interesting novel and somewhat perplexing physiologic and pathologic neuro-ocular findings have been documented in astronauts during and after long duration space flight (LDSF). These findings collectively have been termed the "space flight-associated neuro-ocular syndrome" (SANS). The National Aeronautics and Space Administration (NASA) in the United States has meticulously and prospectively documented the clinical, ultrasound, optical coherence tomography imaging, and radiographic findings of SANS including unilateral and bilateral optic disc edema, globe flattening, choroidal and retinal folds, hyperopic refractive error shifts, and nerve fiber layer infarcts (i...
March 12, 2018: Eye
Charles S Briggs, Joshua A Sibille, Halim Yammine, Jocelyn K Ballast, William Anderson, Tzvi Nussbaum, Timothy S Roush, Frank R Arko
OBJECTIVE: Endovascular aneurysm repair (EVAR) has been shown to reduce mortality in the emergent repair of ruptured abdominal aortic aneurysms (AAAs). However, long-term survival data for this group of patients are lacking with contemporary endovascular endografts. The purpose of this study was to evaluate both 30-day mortality rates and 1-year survival in patients undergoing emergent EVAR in a 43-facility hospital system with a quaternary referral center with an established ruptured aneurysm protocol...
March 8, 2018: Journal of Vascular Surgery
Samuel Wittekind, Wayne Mays, Yvette Gerdes, Sandra Knecht, John Hambrook, William Border, John Lynn Jefferies
Patients with a Fontan circulation have impaired exercise capacity. Cardiac rehabilitation (CR) has shown promise in enhancing peak exercise parameters in this population, but an improvement in submaximal exercise has not been consistently demonstrated. We assessed the hypothesis that participation in CR will be associated with more efficient oxygen extraction and ventilation during submaximal exercise. In this prospective study, pediatric Fontans completed two 60 min CR sessions per week for 12 weeks. Cardiopulmonary exercise testing and stress echocardiography were performed at baseline and last CR session, and then compared with a paired sample t test...
March 9, 2018: Pediatric Cardiology
Bradley Pawlikowski, Nicole Dalla Betta, Tiffany Elston, Darian A Williams, Bradley B Olwin
Down syndrome, caused by trisomy 21, is characterized by a variety of medical conditions including intellectual impairments, cardiovascular defects, blood cell disorders and pre-mature aging phenotypes. Several somatic stem cell populations are dysfunctional in Down syndrome and their deficiencies may contribute to multiple Down syndrome phenotypes. Down syndrome is associated with muscle weakness but skeletal muscle stem cells or satellite cells in Down syndrome have not been investigated. We find that a failure in satellite cell expansion impairs muscle regeneration in the Ts65Dn mouse model of Down syndrome...
March 9, 2018: Scientific Reports
Mohammad Abu Zaid, Wambui G Gathirua-Mwangi, Chunkit Fung, Patrick O Monahan, Omar El-Charif, Annalynn M Williams, Darren R Feldman, Robert J Hamilton, David J Vaughn, Clair J Beard, Ryan Cook, Sandra K Althouse, Shirin Ardeshir-Rouhani-Fard, Paul C Dinh, Howard D Sesso, Lawrence H Einhorn, Sophie D Fossa, Lois B Travis
Background: Testicular cancer survivors (TCS) are at significantly increased risk for cardiovascular disease (CVD), with metabolic syndrome (MetS) an established risk factor. No study has addressed clinical and genetic MetS risk factors in North American TCS. Patients and Methods: TCS were aged <55 years at diagnosis and received first-line chemotherapy. Patients underwent physical examination, and had lipid panels, testosterone, and soluble cell adhesion molecule-1 (sICAM-1) evaluated. A single nucleotide polymorphism in rs523349 (5-α-reductase gene, SRD5A2 ), recently implicated in MetS risk, was genotyped...
March 2018: Journal of the National Comprehensive Cancer Network: JNCCN
Gee-Hong Kuo, Micheal D Gaul, Yin Liang, June Z Xu, Fuyong Du, Pamela Hornby, Guozhang Xu, Jenson Qi, Nathaniel Wallace, Seunghun Lee, Eugene Grant, William V Murray, Keith Demarest
Synthesis and biological evaluation of benzocyclobutane-C-glycosides as potent and orally active SGLT1/SGLT2 dual inhibitors are described. Compound 19 showed high inhibitory potency at SGLT1 (IC50  = 45 nM), and excellent potency at SGLT2 (IC50  = 1 nM). It also displayed excellent PK profiles in mice, rats, dogs and monkeys (F = 78-107%). In SD rats, compound 19 treatments significantly reduced blood glucose levels in a dose-dependent manner. In ZDF rats, compound 19 displayed anti-hyperglycemic effect up to 24 h...
March 1, 2018: Bioorganic & Medicinal Chemistry Letters
Judette M Louis, Matthew A Koch, Uma M Reddy, Robert M Silver, Corette B Parker, Francesca L Facco, Susan Redline, Chia-Ling Nhan-Chang, Judith H Chung, Grace W Pien, Robert C Basner, William A Grobman, Deborah A Wing, Hyagriv N Simhan, David M Haas, Brian M Mercer, Samuel Parry, Daniel Mobley, Benjamin Carper, George R Saade, Frank P Schubert, Phyllis C Zee
BACKGROUND: Sleep-disordered breathing (SDB) is common in pregnancy, but there are limited data on predictors. OBJECTIVES: The objective of this study was to develop predictive models of sleep-disordered breathing during pregnancy. STUDY DESIGN: Nulliparous women completed validated questionnaires to assess for symptoms related to snoring, fatigue, excessive daytime sleepiness, insomnia, and restless leg syndrome. The questionnaires included questions regarding the timing of sleep and sleep duration, work schedules (eg, shift work, night work), sleep positions, and previously diagnosed sleep disorders...
February 2, 2018: American Journal of Obstetrics and Gynecology
Shaji C Menon, Ragheed Al-Dulaimi, Brian W McCrindle, David J Goldberg, Ritu Sachdeva, Bryan H Goldstein, Thomas Seery, Karen C Uzark, Anjali Chelliah, Ryan Butts, Heather Henderson, Tiffanie Johnson, Richard V Williams
INTRODUCTION: We sought to evaluate the prevalence of delayed puberty and abnormal anthropometry and its association with quality of life (QoL) in young Fontan survivors. METHODS: This was a cross-sectional study at 11 Pediatric Heart Network centers. Demographic and clinical data, anthropomety, and Tanner stage were collected. Anthropometric measurements and pubertal stage were compared to US norms. QoL was assessed using Pediatric Quality of Life inventory (PedsQL)...
March 9, 2018: Congenital Heart Disease
William J Hayes, Deidra VanGilder, Joseph Berendse, Michael D Lemon, John A Kappes
Cyclic vomiting syndrome (CVS) is a disorder characterized by episodes of nausea and vomiting lasting for 1-5 days followed by asymptomatic periods. The etiology of CVS is unknown, but it shares similar characteristics to migraine headaches. CVS is generally classified as having four phases: prodromal, acute/vomiting/hyperemesis, recovery, and remission/interepisodic. Current management strategies include trigger avoidance, abortive and prophylactic medication therapies, and supportive care. The goal of therapy for the remission phase is prophylaxis of further episodes...
2018: Clinical and Experimental Gastroenterology
Georgina M Williams, Patricia Neville, Kathleen M Gillespie, Sam D Leary, Julian P Hamilton-Shield, Aidan J Searle
OBJECTIVE: To understand how to maximise recruitment of young infants with Down's syndrome (DS) into research through qualitative interviews with parents and care providers. In complex neonatal and genetic conditions such as DS, frequently diagnosed after birth, parents may go through a period of adaptation. These factors need consideration when overcoming barriers to recruitment. PARTICIPANTS AND DESIGN: Participants, who were drawn from health professionals and volunteers working with families experiencing DS, were recruited using a purposive sampling strategy...
March 8, 2018: Archives of Disease in Childhood
William J Yoon, Pegge Halandras, Bernadette Aulivola, Paul Crisostomo
INTRODUCTION & OBJECTIVES: Cancer patients demonstrate increased risk for venous thromboembolism (VTE), VTE recurrence, and anticoagulation-associated bleeding. Pharmacomechanical thrombolysis and thrombectomy (PMT) improves venous patency, venous valve function, and quality of life in patients with acute iliofemoral deep venous thrombosis (DVT). It remains unknown whether pharmacomechanical thrombolysis can be used safely in patients with active cancer. We hypothesized that perioperative and short-term outcomes of pharmacomechanical iliofemoral DVT thrombolysis would not differ between patients with cancer and those without cancer...
March 5, 2018: Annals of Vascular Surgery
Anne T Berg, Samya Chakravorty, Sookyong Koh, Zachary M Grinspan, Renée A Shellhaas, Russell P Saneto, Elaine C Wirrell, Jason Coryell, Catherine J Chu, John R Mytinger, William D Gaillard, Ignacio Valencia, Kelly G Knupp, Tobias Loddenkemper, Joseph E Sullivan, Annapurna Poduri, John J Millichap, Cynthia Keator, Courtney Wusthoff, Nicole Ryan, William B Dobyns, Madhuri Hegde
Infantile spasms are the defining seizures of West syndrome, a severe form of early life epilepsy with poorly-understood pathophysiology. We present a novel comparative analysis of infants with spasms versus other seizure-types and identify clinical, etiological, and molecular-genetic factors preferentially predisposing to spasms. We compared ages, clinical etiologies, and associated-genes between spasms and non-spasms groups in a multicenter cohort of 509 infants (<12months) with newly-diagnosed epilepsy...
2018: PloS One
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