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https://www.readbyqxmd.com/read/28812984/modelling-the-effects-of-quinidine-disopyramide-and-e-4031-on-short-qt-syndrome-variant-3-in-the-human-ventricles
#1
Cunjin Luo, Kuanquan Wang, Henggui Zhang
Short QT syndrome (SQTS) is an inherited cardiac channelopathy, but at present little information is available on its pharmacological treatment. SQT3 variant (linked to the inward rectifier potassium current IK1) of SQTS, results from a gain-of-function mutation (Kir2.1 D172N) in the KCNJ2-encoded channels, which is associated with ventricular fibrillation (VF). Using biophysically-detailed human ventricular computer models, this study investigated the potential effects of quinidine, disopyramide, and E-4031 on SQT3...
August 16, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28809383/increasing-symptoms-in-irritable-bowel-symptoms-with-ingestion-of-galacto-oligosaccharides-are-mitigated-by-%C3%AE-galactosidase-treatment
#2
C J Tuck, K M Taylor, P R Gibson, J S Barrett, J G Muir
OBJECTIVES: Galacto-oligosaccharides (GOS) are dietary FODMAPs (fermentable carbohydrates) associated with triggering gastrointestinal symptoms in patients with irritable bowel syndrome (IBS). This randomized, double-blind, placebo-controlled, cross-over trial aimed to assess whether oral α-galactosidase co-ingestion with foods high in GOS and low in other FODMAPs would reduce symptoms. METHODS: Patients meeting the Rome III criteria for IBS who were hydrogen-producers on breath testing were recruited...
August 15, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28808903/clinical-outcomes-of-aortic-repair-in-young-adult-patients-with-acta2-mutations
#3
Yoshimasa Seike, Kenji Minatoya, Hiroaki Sasaki, Hiroshi Tanaka, Tatsuya Itonaga, Yosuke Inoue, Hiroko Morisaki, Takayuki Morisaki, Hatsue Ishibashi-Ueda, Junjiro Kobayashi
OBJECTIVES: Actin, alpha-2, smooth muscle, aorta (ACTA2) mutations are one of the major causes of familial thoracic aortic aneurysms and dissections. The aim of this study was to review our clinical results of young adult patients with aortic disease caused by ACTA2 mutations. METHODS: We reviewed the medical records of 251 patients (<50 years old) who underwent surgery for thoracic aortic diseases between 2004 and 2014. Among them, nine patients (3.5%) had ACTA2 mutations...
August 14, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28792455/cardio-metabolic-benefits-of-plant-based-diets
#4
REVIEW
Hana Kahleova, Susan Levin, Neal Barnard
Cardio-metabolic disease, namely ischemic heart disease, stroke, obesity, and type 2 diabetes, represent substantial health and economic burdens. Almost one half of cardio-metabolic deaths in the U.S. might be prevented through proper nutrition. Plant-based (vegetarian and vegan) diets are an effective strategy for improving nutrient intake. At the same time, they are associated with decreased all-cause mortality and decreased risk of obesity, type 2 diabetes, and coronary heart disease. Evidence suggests that plant-based diets may reduce the risk of coronary heart disease events by an estimated 40% and the risk of cerebral vascular disease events by 29%...
August 9, 2017: Nutrients
https://www.readbyqxmd.com/read/28791233/non-surgical-management-of-recurrent-urinary-tract-infections-in-women
#5
REVIEW
Paul A Bergamin, Anthony J Kiosoglous
One in three women will experience a clinically significant urinary tract infection (UTI) by age twenty-four and almost half will have at least one in their lifetime. Recurrent UTIs (rUTIs) are defined as having greater than two infections in a 6-month period, or three infections over twelve months, with complete resolution for at least two weeks. These may be due to relapse from incomplete treatment (persistence) or re-infection (new source). It may be difficult to distinguish between the two, where the same organism is cultured...
July 2017: Translational Andrology and Urology
https://www.readbyqxmd.com/read/28780564/a-common-slc26a4-linked-haplotype-underlying-non-syndromic-hearing-loss-with-enlargement-of-the-vestibular-aqueduct
#6
Parna Chattaraj, Tina Munjal, Keiji Honda, Nanna D Rendtorff, Jessica S Ratay, Julie A Muskett, Davide S Risso, Isabelle Roux, E Michael Gertz, Alejandro A Schäffer, Thomas B Friedman, Robert J Morell, Lisbeth Tranebjærg, Andrew J Griffith
BACKGROUND: Enlargement of the vestibular aqueduct (EVA) is the most common radiological abnormality in children with sensorineural hearing loss. Mutations in coding regions and splice sites of the SLC26A4 gene are often detected in Caucasians with EVA. Approximately one-fourth of patients with EVA have two mutant alleles (M2), one-fourth have one mutant allele (M1) and one-half have no mutant alleles (M0). The M2 genotype is correlated with a more severe phenotype. METHODS: We performed genotype-haplotype analysis and massively parallel sequencing of the SLC26A4 region in patients with M1 EVA and their families...
August 5, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28771907/xeroderma-pigmentosum-clinical-practice-guidelines
#7
Shinichi Moriwaki, Fumio Kanda, Masaharu Hayashi, Daisuke Yamashita, Yoshitada Sakai, Chikako Nishigori
Xeroderma pigmentosum (XP) is a genetic photosensitive disorder in which patients are highly susceptibe to skin cancers on the sun-exposed body sites. In Japan, more than half of patients (30% worldwide) with XP show complications of idiopathic progressive, intractable neurological symptoms with poor prognoses. Therefore, this disease does not merely present with dermatological symptoms, such as photosensitivity, pigmentary change and skin cancers, but is "an intractable neurological and dermatological disease"...
August 3, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28768581/cardiac-defects-morbidity-and-mortality-in-patients-affected-by-rasopathies-carnet-study-results
#8
Giulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, Francesco Gesualdo, M Cristina Digilio, Anwar Baban, Sonia B Albanese, Paolo Versacci, Enrica De Luca, Giovanni B Ferrero, Giuseppina Baldassarre, Gabriella Agnoletti, Elena Banaudi, Jan Marek, Juan P Kaski, Giulia Tuo, M Giovanna Russo, Giuseppe Pacileo, Ornella Milanesi, Daniela Messina, Maurizio Marasini, Francesca Cairello, Roberto Formigari, Maurizio Brighenti, Bruno Dallapiccola, Marco Tartaglia, Bruno Marino
BACKGROUND: RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to provide a comprehensive description of morbidity and mortality in patients with molecularly confirmed RASopathy. METHODS: A multicentric, observational, retrospective study was conducted in seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET). Clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed...
July 21, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28764172/clinico-haematological-profile-of-hereditary-haemolytic-anaemias-in-a-tertiary-health-care-hospital-in-south-india
#9
Chaitra Venkataswamy, Am Shanthala Devi
INTRODUCTION: Hereditary haemolytic anaemia is a common inherited disorder causing varying degree of morbidity and mortality. This includes disorders due to haemoglobin defect, membrane defect, and enzyme defect. Among them haemoglobinopathies, a single gene disorder, constitutes the major part of the disorder and is distributed worldwide with an incidence of 5%. These inherited disorders pose a major public health problem and increase the burden both on the patient and the society. Presently, these disorders are not curable but can only be prevented...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28754144/a-novel-mechanism-for-variable-phenotypic-expressivity-in-mendelian-diseases-uncovered-by-an-au-rich-element-are-creating-mutation
#10
Nisha Patel, Arif O Khan, Maher Al-Saif, Walid N Moghrabi, Balsam M AlMaarik, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Tarfa Alshidi, Eman Alobeid, Rana A Alomar, Saad Al-Harbi, Mohamed Abouelhoda, Khalid S A Khabar, Fowzan S Alkuraya
BACKGROUND: Variable expressivity is a well-known phenomenon in which patients with mutations in one gene display varying degrees of clinical severity, potentially displaying only subsets of the clinical manifestations associated with the multisystem disorder linked to the gene. This remains an incompletely understood phenomenon with proposed mechanisms ranging from allele-specific to stochastic. RESULTS: We report three consanguineous families in which an isolated ocular phenotype is linked to a novel 3' UTR mutation in SLC4A4, a gene known to be mutated in a syndromic form of intellectual disability with renal and ocular involvement...
July 28, 2017: Genome Biology
https://www.readbyqxmd.com/read/28752613/sleep-patterns-among-patients-with-chronic-fatigue-a-polysomnography-based-study
#11
Evelina Pajediene, Indre Bileviciute-Ljungar, Danielle Friberg
OBJECTIVES: The purpose of this study was to detect treatable sleep disorders among patients complaining of chronic fatigue by using sleep questionnaires and polysomnography. METHODS: Patients were referred to hospital for investigations and rehabilitation because of a suspected diagnosis of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). The criteria for further referral to full-night polysomnography (PSG) were symptoms of excessive daytime sleepiness and/or tiredness in the questionnaires...
July 28, 2017: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28738451/psychiatric-comorbidity-in-patients-with-irritable-bowel-syndrome-at-a-tertiary-care-center-in-northern-india
#12
Yuman Kawoos, Zaid A Wani, Showkat A Kadla, Irfan A Shah, Arshad Hussain, M Maqbool Dar, Mushtaq A Margoob, Kouser Sideeq
Background/Aims: Irritable bowel syndrome (IBS) is a chronic psycho-physiological disorder. It is considered to be the most common functional gastrointestinal disorder, and about 50.0-90.0% of IBS patients have associated psychiatric comorbidity. We aimed to study psychiatric comorbidities in patients with IBS visiting a tertiary care center. Methods: This was a cross-sectional case-control study conducted over a duration of one and a half years from January 2014 to July 2015...
July 21, 2017: Journal of Neurogastroenterology and Motility
https://www.readbyqxmd.com/read/28733699/a-prospective-study-of-docetaxel-associated-pain-syndrome
#13
Nicholas Chiu, Liying Zhang, Rebecca Dent, Angie Giotis, Jenna van Draanen, Daniela Gallo-Hershberg, Leonard Chiu, Ronald Chow, Bo Angela Wan, Mark Pasetka, Jordan Stinson, Erica Stacey, Sunil Verma, Henry Lam, Edward Chow, Carlo DeAngelis
PURPOSE: To investigate the natural history of taxane-associated acute pain syndrome (TAPS) in a docetaxel patient cohort and to examine the long-term manifestation of TAPS. PATIENTS AND METHODS: For three consecutive treatment cycles, taxane-naive breast cancer patients completed diaries on days 1-7, 14, and 21 and telephone questionnaires 1, 3, 6, 9, and 12 months following treatment. Questionnaires to assess pain and interference were adapted from the Brief Pain Inventory...
July 22, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28732699/triggers-of-oral-lichen-planus-flares-and-the-potential-role-of-trigger-avoidance-in-disease-management
#14
Hannah X Chen, Rachel Blasiak, Edwin Kim, Ricardo Padilla, Donna A Culton
OBJECTIVE: Many patients with oral lichen planus (OLP) report triggers of flares, some of which overlap with triggers of other oral diseases, including oral allergy syndrome and oral contact dermatitis. The purpose of this study was to evaluate the prevalence of commonly reported triggers of OLP flares, their overlap with triggers of other oral diseases, and the potential role of trigger avoidance as a management strategy. STUDY DESIGN: Questionnaire-based survey of 51 patients with biopsy-proven lichen planus with oral involvement seen in an academic dermatology specialty clinic and/or oral pathology clinic between June 2014 and June 2015...
May 30, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28730895/incidence-treatment-strategies-and-outcomes-of-acute-coronary-syndrome-with-and-without-ongoing-myocardial-ischaemia-results-from-the-czech-3-registry
#15
Petr Tousek, Klara Staskova, Anna Mala, Martin Sluka, Alexandra Vodzinska, Radek Jancar, Denisa Maluskova, Jiri Jarkovsky, Petr Widimsky
BACKGROUND: Patients with acute coronary syndrome with signs of ongoing myocardial ischaemia at first medical contact should be indicated for immediate invasive treatment. AIM: To assess the incidence, treatment strategies and outcomes of acute coronary syndrome in a large unselected cohort of patients with respect to the signs of ongoing myocardial ischaemia. METHODS: The CZECH-3 registry included 1754 consecutive patients admitted for suspected acute coronary syndrome to 43 hospitals during a 2-month period in the autumn of 2015...
July 1, 2017: European Heart Journal. Acute Cardiovascular Care
https://www.readbyqxmd.com/read/28728769/social-inclusion-of-children-with-down-syndrome-jewish-and-muslim-mothers-knowledge-attitudes-beliefs-and-behavioral-intentions
#16
Sivia Barnoy, Anna Biton, Michal Itzhaki
PURPOSE: The current study examined mothers' knowledge, beliefs, attitudes, and intention to socially integrate children with Down syndrome (DS) in the family, with children without disabilities and school system. DESIGN AND METHODS: A questionnaire based on a descriptive, cross-sectional design was administered to Jewish and Muslim mothers. The questionnaire included demographics, knowledge, beliefs, attitudes, and intention to integrate children with DS. Analysis included a regression test of intention to integrate children with DS and a one-way ANOVA for differences between Jewish and Muslim mothers...
July 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28728766/assessment-of-safe-sleep-validation-of-the-parent-newborn-sleep-safety-survey
#17
Leanne Whiteside-Mansell, Rosemary Nabaweesi, Alison Rose Caballero, Samantha Hope Mullins, Beverly Kaye Miller, Mary Elizabeth Aitken
PURPOSE: Sudden Infant Death Syndrome (SIDS) and suffocation account for more than half of all Sudden Unexpected Infant Deaths (SUID). The American Academy of Pediatrics (AAP) recommendations describe the safest environments to protect infants. This study compared parent responses on the Newborn Sleep Safety Survey and observational assessments (N=72) of infant sleep environments in families thought to be at high-risk for non-compliance with AAP recommendations. DESIGN AND METHODS: A naturalistic study of participants enrolled in two home visitation support programs was used...
July 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28725294/acupuncture-benefits-for-flammer-syndrome-in-individuals-with-inherited-diseases-of-the-retina
#18
Tilo Blechschmidt, Maike Krumsiek, Margarita G Todorova
BACKGROUND: Patients with inherited diseases of the retina (IRD) often exhibit signs and symptoms of Flammer syndrome (FS). Acupuncture treatment has shown its positive effect on visual function in patients with IRD. The aim of the present study is to examine the effect of acupuncture on signs and symptoms of FS in a cohort of patients suffering simultaneously FS and IRD. PATIENTS AND METHODS: A prospective pilot study was performed on 17 patients with FS and IRD: rod-cone dystrophy, Nr: 12 (RCD); cone-rod dystrophy, Nr: 3 (CRD) and inherited macular dystrophy, Nr: 2 (IMD; 12♀, 5♂; mean age: 44...
June 2017: EPMA Journal
https://www.readbyqxmd.com/read/28716259/roald-dahl-and-the-complete-locked-in-syndrome-cold-dead-body-living-brain
#19
Daniel Kondziella
The classical locked-in syndrome in which partially preserved eye movements allow for communication is well-recognized by most neurologists. Yet, it is much less well-known that patients exist who are clearly conscious but have lost all means of communicating it to the outside world because they no longer have any motor output at all. Of note, Roald Dahl, the internationally acclaimed children book author, described this complete locked-in syndrome in one of his short stories, William and Mary (1959), almost half a century before the medical community became aware of this devastating condition...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28714533/multicenter-retrospective-study-of-neurostimulation-with-exit-of-therapy-by-explant
#20
Jason E Pope, Timothy R Deer, Steven Falowski, David Provenzano, Michael Hanes, Salim M Hayek, Jacob Amrani, Jonathan Carlson, Ioannis Skaribas, Kris Parchuri, W Porter McRoberts, Robert Bolash, Nameer Haider, Maged Hamza, Kasra Amirdelfan, Sean Graham, Corey Hunter, Eric Lee, Sean Li, Michael Yang, Lucas Campos, Shrif Costandi, Robert Levy, Nagy Mekhail
INTRODUCTION: Spinal cord stimulation (SCS) devices are cost effective and improve function as well as quality of life. Despite the demonstrated benefits of SCS, some patients have the device explanted. We are interested in exploring the patient characteristics of those explanted. METHODS: This is a retrospective chart review of neurostimulation patients who underwent explantation at 18 centers across the United States within the previous five years. RESULTS: Data from 352 patients were collected and compiled...
July 17, 2017: Neuromodulation: Journal of the International Neuromodulation Society
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