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https://www.readbyqxmd.com/read/29652725/therapeutic-strategies-involving-uterine-stem-cells-in-reproductive-medicine
#1
Michael Simoni, Hugh S Taylor
PURPOSE OF REVIEW: The current review provides an update on recent advances in stem cell biology relevant to female reproduction. RECENT FINDINGS: Stem cells are undifferentiated cells that often serve as a reservoir of cells to regenerate tissue in settings or injury or cell loss. The endometrium has progenitor stem cells that can replace all of the endometrium during each menstrual cycle. In addition, multipotent endometrial cells replace these progenitor cells when depleted...
April 12, 2018: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29609725/getting-personal-with-down-syndrome-and-obstructive-sleep-apnea
#2
Benjamin H Hughes
No abstract text is available yet for this article.
March 30, 2018: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/29588840/device-assisted-enteroscopy-in-the-uk-description-of-a-large-tertiary-case-series-under-conscious-sedation
#3
Vijay Pattni, David J Tate, Ana Terlevich, Peter Marden, Steve Hughes
Objective: Device-assisted enteroscopy (DAE) has developed rapidly, particularly with the advent of double-balloon enteroscopy (DBE). This study reports a case series from a UK tertiary centre for DAE across two modalities-DBE and spiral enteroscopy (SE)-under conscious sedation. Design: Retrospective observational study of 257 enteroscopy procedures from 2008 to 2014. Data were collected on demographics, indications, diagnosis, sedation requirements, duration, complications, tolerance, therapy performed and completion rate...
April 2018: Frontline Gastroenterology
https://www.readbyqxmd.com/read/29583049/role-of-toll-like-receptor-4-and-caspase-3-8-and-9-in-lipopolysaccharide-induced-delay-of-apoptosis-in-equine-neutrophils
#4
Stacy L Anderson, Hugh G G Townsend, Baljit Singh
OBJECTIVE To evaluate the effect of lipopolysaccharide (LPS) on apoptosis of equine neutrophils in vitro. SAMPLE Venous blood samples from 40 adult horses. PROCEDURES Neutrophils were isolated from blood samples and cultured with or without LPS from Escherichia coli O55:B5 for 12 or 24 hours. Neutrophil apoptosis was assessed by use of cytologic examination, annexin V and propidium iodide staining quantified with flow cytometry, coincubation with inducers of intrinsic and extrinsic apoptosis or a toll-like receptor (TLR) 4 inhibitor, and measurement of caspase-3, -8, and -9 activities...
April 2018: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/29582550/consensus-opinion-on-diagnosis-and-management-of-thrombotic-microangiopathy-in-australia-and-new-zealand
#5
REVIEW
Lucy C Fox, Solomon J Cohney, Joshua Y Kausman, Jake Shortt, Peter D Hughes, Erica M Wood, Nicole M Isbel, Theo de Malmanche, Anne Durkan, Pravin Hissaria, Piers Blombery, Thomas D Barbour
Thrombotic microangiopathy (TMA) arises in a variety of clinical circumstances with the potential to cause significant dysfunction of the kidneys, brain, gastrointestinal tract and heart. TMA should be considered in all patients with thrombocytopenia and anaemia, with an immediate request to the haematology laboratory to look for red cell fragments on a blood film. Whilst TMA of any aetiology generally demands prompt treatment, this is especially so in thrombotic thrombocytopenic purpura (TTP) and atypical haemolytic uraemic syndrome (aHUS), where organ failure may be precipitous, irreversible and fatal...
March 27, 2018: Internal Medicine Journal
https://www.readbyqxmd.com/read/29581889/non-traumatic-myelopathy-associated-with-prolonged-hyperextension-during-swimming-an-unusual-variation-of-surfer-s-myelopathy
#6
Edward Green, Umme Sara Zishan, Nicola Robertson, Joseph Papanikitas, Sarah Yanny, Richard Hughes, David McKean
Introduction: Surfer's myelopathy (SM) is a rare cause on non-traumatic acute myelopathy. This has classically been described in novice surfers however has been reported in other scenarios. Case presentation: We present a case of non-traumatic paraparesis associated with prolonged cervical hyperextension during swimming with imaging characteristics consistent with an unusual variation of SM in a swimmer. Discussion: SM and its variants should be considered in the differential diagnosis of any patient presenting with an anterior spinal cord syndrome with a history of either sustained or repeated spinal hyperextension...
2018: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/29575569/clinical-biochemical-and-genetic-features-of-four-patients-with-short-chain-enoyl-coa-hydratase-echs1-deficiency
#7
Patricia E Fitzsimons, Charlotte L Alston, Penelope E Bonnen, Joanne Hughes, Ellen Crushell, Michael T Geraghty, Martine Tetreault, Peter O'Reilly, Eilish Twomey, Yusra Sheikh, Richard Walsh, Hans R Waterham, Sacha Ferdinandusse, Ronald J A Wanders, Robert W Taylor, James J Pitt, Philip D Mayne
Short-chain enoyl-CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in the gene ECHS1 (OMIM 602292). Clinical presentation includes infantile-onset severe developmental delay, regression, seizures, elevated lactate, and brain MRI abnormalities consistent with Leigh syndrome (LS). Characteristic abnormal biochemical findings are secondary to dysfunction of valine metabolism. We describe four patients from two consanguineous families (one Pakistani and one Irish Traveler), who presented in infancy with LS...
March 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29573301/early-death-and-causes-of-death-of-people-with-down-syndrome-a-systematic-review
#8
Lisa O'Leary, Laura Hughes-McCormack, Kirsty Dunn, Sally-Ann Cooper
BACKGROUND: It is thought that people with Down syndrome die younger than the general population, but that survival rates are improving. METHODS: Five databases were searched for keywords related to intellectual disabilities, Down syndrome and mortality. Strict inclusion criteria were applied. Information from 34 selected studies was tabulated, extracted and synthesized. RESULTS: People with Down syndrome died about 28 years younger than the general population...
March 24, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29558895/fitz-hugh-curtis-syndrome-associated-with-tuberculous-salpingitis-and-peritonitis-a-case-presentation-and-review-of-literature
#9
Laura Coremans, Frederik de Clerck
BACKGROUND: Fitz-Hugh-Curtis syndrome or acute perihepatitis is considered a rare complication of pelvic inflammatory disease, mostly associated with chlamydial or gonococcal salpingitis. Peritoneal tuberculosis is a rare site of extra-pulmonary infection caused by Mycobacterium tuberculosis. Infection usually occurs after reactivation of latent tuberculous foci in the peritoneum and more seldom after contiguous spread from tuberculous salpingitis. CASE PRESENTATION: We describe a case of a 21-year old female of Somalian origin diagnosed with Fitz-Hugh Curtis syndrome associated with tuberculous salpingitis and peritonitis, presenting with new onset ascites...
March 20, 2018: BMC Gastroenterology
https://www.readbyqxmd.com/read/29532591/un-precipitated-acute-kidney-injury-is-uncommon-among-stable-patients-with-cirrhosis-and-ascites
#10
Florence Wong, Peter Jepsen, Hugh Watson, Hendrik Vilstrup
BACKGROUND & AIMS: Acute episodes of renal dysfunction or acute kidney injury (AKI) in cirrhotic patients with ascites are mostly precipitated by an acute event. The prevalence of un-precipitated AKI in stable ascitic cirrhotic patients is unknown. The aims of this study were to determine (i) the prevalence of un-precipitated AKI in stable cirrhotics with ascites and (ii) any predictive factors for its development. METHODS: A total of 1115 stable cirrhotic patients with mild liver and renal dysfunction but varying degrees of ascites severity from 3 previous satavaptan vs placebo randomized controlled trials (Group A, ascites requiring diuretics but not paracentesis; Group B, ascites requiring frequent paracentesis; Group C, refractory ascites) were included...
March 13, 2018: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/29506874/mt-nd5-mutation-exhibits-highly-variable-neurological-manifestations-at-low-mutant-load
#11
Yi Shiau Ng, Nichola Z Lax, Paul Maddison, Charlotte L Alston, Emma L Blakely, Philippa D Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A Morris, Smaragda Kamakari, Georgia Chrousos, Richard J Rodenburg, Christiaan G J Saris, Catherine Feeney, Steven A Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G Hanna, Akira Ohtake, Andrew M Schaefer, Mike P Champion, Doug M Turnbull, Robert W Taylor, Robert D S Pitceathly, Robert McFarland, Gráinne S Gorman
Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers. Ten patients were deceased at the time of analysis (median age of death was 10years (range: 5·4months-37years, IQR=17·9years). Nine patients manifested with LS, one with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), and one with Leber hereditary optic neuropathy...
February 24, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29504899/candidate-snp-markers-of-reproductive-potential-are-predicted-by-a-significant-change-in-the-affinity-of-tata-binding-protein-for-human-gene-promoters
#12
Irina V Chadaeva, Petr M Ponomarenko, Dmitry A Rasskazov, Ekaterina B Sharypova, Elena V Kashina, Dmitry A Zhechev, Irina A Drachkova, Olga V Arkova, Ludmila K Savinkova, Mikhail P Ponomarenko, Nikolay A Kolchanov, Ludmila V Osadchuk, Alexandr V Osadchuk
BACKGROUND: The progress of medicine, science, technology, education, and culture improves, year by year, quality of life and life expectancy of the populace. The modern human has a chance to further improve the quality and duration of his/her life and the lives of his/her loved ones by bringing their lifestyle in line with their sequenced individual genomes. With this in mind, one of genome-based developments at the junction of personalized medicine and bioinformatics will be considered in this work, where we used two Web services: (i) SNP_TATA_Comparator to search for alleles with a single nucleotide polymorphism (SNP) that alters the affinity of TATA-binding protein (TBP) for the TATA boxes of human gene promoters and (ii) PubMed to look for retrospective clinical reviews on changes in physiological indicators of reproductive potential in carriers of these alleles...
February 9, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29501670/amino-acid-level-signal-to-noise-analysis-of-incidentally-identified-variants-in-genes-associated-with-long-qt-syndrome-during-pediatric-whole-exome-sequencing-reflects-background-genetic-noise
#13
Andrew P Landstrom, Ernesto Fernandez, Jill A Rosenfeld, Yaping Yang, Andrew L Dailey-Schwartz, Christina Y Miyake, Hugh D Allen, Daniel J Penny, Jeffrey J Kim
BACKGROUND: Due to rapid expansion of clinical genetic testing, an increasing number of genetic variants of undetermined significance are being identified in children with unclear diagnostic value. Variants found in genes associated with heritable channelopathies, such as long QT syndrome (LQTS), are particularly difficult to interpret given the risk of sudden cardiac death associated with pathologic mutations. OBJECTIVE: To determine whether variants in LQTS-associated genes from whole exome sequencing (WES) represent disease-associated biomarkers or background genetic "noise...
March 1, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29500626/a-clinical-decision-support-tool-to-predict-cancer-risk-for-commonly-tested-cancer-related-germline-mutations
#14
Danielle Braun, Jiabei Yang, Molly Griffin, Giovanni Parmigiani, Kevin S Hughes
The rapid drop in the cost of DNA sequencing led to the availability of multi-gene panels, which test 25 or more cancer susceptibility genes for a low cost. Clinicians and genetic counselors need a tool to interpret results, understand risk of various cancers, and advise on a management strategy. This is challenging as there are multiple studies regarding each gene, and it is not possible for clinicians and genetic counselors to be aware of all publications, nor to appreciate the relative accuracy and importance of each...
March 2, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29491038/preclinical-efficacy-and-safety-of-the-novel-anti-diabetic-anti-obesity-metap2-inhibitor-zgn-1061
#15
Bryan F Burkey, Niel C Hoglen, Philip Inskeep, Margaret Wyman, Thomas E Hughes, James E Vath
Methionine aminopeptidase 2 (MetAP2) inhibition is a promising approach to treating diabetes, obesity, and associated metabolic disorders. Beloranib, a MetAP2 inhibitor previously investigated for treatment of Prader-Willi syndrome, was associated with venous thrombotic adverse events likely resulting from drug effects on vascular endothelial cells (ECs). Here, we report the pharmacological characterization of ZGN-1061, a novel MetAP2 inhibitor being investigated for treatment of diabetes and obesity. Four weeks of subcutaneous administration of ZGN-1061 to diet-induced obese (DIO) insulin-resistant mice produced a 25% reduction in body weight, primarily due to reduced fat mass, that was comparable to beloranib...
February 28, 2018: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/29480924/intrahepatic-cholestasis-of-pregnancy-a-review-of-diagnosis-and-management
#16
Amber M Wood, Elizabeth G Livingston, Brenna L Hughes, Jeffrey A Kuller
Importance: Intrahepatic cholestasis of pregnancy (ICP) complicates approximately 0.2% to 2% of pregnancies and can lead to increased fetal risks in pregnancy. Objective: This review aims to increase the knowledge of women's health care providers regarding the diagnosis, management, and fetal risks associated with ICP. Results: The diagnosis of ICP is based on symptoms of pruritus that typically include the palms and soles, as well as elevated bile acid levels...
February 2018: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/29477681/surgical-missteps-in-the-management-of-venous-thoracic-outlet-syndrome-which-lead-to-reoperation
#17
Meena M Archie, Johnathon C Rollo, Hugh A Gelabert
INTRODUCTION: Surgical management of spontaneous subclavian thrombosis due to venous thoracic outlet syndrome (vTOS) results in durable relief of symptoms. The need to re-operate is rare. We report our experience with re-operation for vTOS. METHODS: Patients evaluated for vTOS between 1996 and 2016 were identified in a prospective database. Data recorded included demographics, initial presentation, initial surgery, recurrent presentation, re-operation, and final outcomes...
February 22, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29464468/elderly-fitz-hugh-curtis-syndrome-observed-with-superb-microvascular-imaging-system
#18
Tomotaka Yazaki, Shuichi Sato, Hiroshi Tobita, Kazuki Isoda, Tatsuya Miyake, Yoshikazu Kinoshita
Fitz-Hugh-Curtis syndrome (FHCS) is defined as inflammation on the surface of the liver following sexually transmitted chlamydia infection. We successfully observed the microvascular structure of the inflamed portion between the abdominal wall and surface of the liver in an elderly patient with FHCS using a superb microvascular imaging (SMI) system, a new technology developed for observing minute vascular flow. An 80-year-old Japanese female with right dorsal to lateral abdominal pain and fever came to our hospital...
February 20, 2018: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/29455227/the-clinical-features-of-patients-concurrent-with-guillain-barre-syndrome-and-myasthenia-gravis
#19
Junliang Yuan, Juan Zhang, Bingwei Zhang, Wenli Hu
OBJECTIVE: To evaluate all the coincidence cases of Guillain-Barre syndrome (GBS) and myasthenia gravis (MG). METHODS: We performed web-based research of the overlapping incidence of GBS and MG in studies occurring from 1982 to 2016 and restricted to the English language. RESULTS: Among 15 cases, an elevated CSF protein level without pleocytosis was found in 10 cases (66.7%); reduced nerve conduction was found in 13 cases (86.6%); a positive repetitive nerve stimulation test occurred in 11 cases (73...
January 2018: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/29445110/promising-biomarkers-of-environmental-enteric-dysfunction-a-prospective-cohort-study-in-pakistani-children
#20
Najeeha Talat Iqbal, Kamran Sadiq, Sana Syed, Tauseefullah Akhund, Fayyaz Umrani, Sheraz Ahmed, Mohammad Yawar Yakoob, Najeeb Rahman, Shahida Qureshi, Wenjun Xin, Jennie Z Ma, Molly Hughes, Syed Asad Ali
Environmental Enteric Dysfunction (EED), a syndrome characterized by chronic gut inflammation, contributes towards stunting and poor response to enteric vaccines in children in developing countries. In this study, we evaluated major putative biomarkers of EED using growth faltering as its clinical proxy. Newborns (n = 380) were enrolled and followed till 18 months with monthly anthropometry. Biomarkers associated with gut and systemic inflammation were assessed at 6 and 9 months. Linear mixed effects model was used to determine the associations of these biomarkers with growth faltering between birth and 18 months...
February 14, 2018: Scientific Reports
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