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https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#1
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28098492/insomnia-management-in-the-australian-primary-care-setting
#2
Fatema-Tun-Naher Sake, Keith Wong, Delwyn J Bartlett, Bandana Saini
BACKGROUND AND OBJECTIVE: Insomnia is one of the most prevalent and costly sleep disorders presenting in general practice, and when left untreated, has major health consequences. However, studies are limited on how general practitioners respond to this health issue, especially since the reconceptualization of insomnia in DSM 5. Therefore, the aim of this study was to explore how insomnia is diagnosed and treated in Australian general practices. PARTICIPANTS: Twenty-four (54% male) general practitioners were recruited throughout the greater Sydney metropolitan area in New South Wales using the professional network of research team members and snowballing technique...
January 18, 2017: Behavioral Sleep Medicine
https://www.readbyqxmd.com/read/28098114/a-comparison-of-health-related-quality-of-life-in-patients-with-renal-failure-under-hemodialysis-and-healthy-participants
#3
K Hajian-Tilaki, B Heidari, A Hajian-Tilaki
The objective of this study was to evaluate the health-related quality of life (QoL) of patients under hemodialysis (HD) and to compare this to healthy participants. We compared 154 patients on HD to 308 healthy age- and sex-matched controls recruited from Shahid Beheshti Hospital in Babol, Northern Iran in 2014. The data of health-related QoL in eight subscales were collected with interview using a standard short-form questionnaire of short form-36. The demographic data and dry weight and height were measured...
January 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28098105/fasting-in-ramadan-is-not-associated-with-deterioration-of-chronic-kidney-disease-a-prospective-observational-study
#4
Ekrem Kara, Osman Zikrullah Sahin, Bayram Kizilkaya, Burcu Ozturk, Gokhan Pusuroglu, Safak Yildirim, Mustafa Sevinc, Tuncay Sahutoglu
Although not mandatory for patients, many Muslims fast in Ramadan. We aimed to investigate the effects of long hours (17.5) fasting on renal functions in patients with chronic kidney disease (CKD). Stage 3-5 CKD patients with stable renal function were recruited to this prospective observational study three months ahead of Ramadan in 2015. All patients were instructed regarding possible deleterious effects of dehydration caused by fasting. Forty-five patients (mean age 66.8 ± 10.3 years, 68.8% male) chose to fast and 49 (mean, age: 64...
January 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28098054/long-term-esophageal-motility-changes-after-thyroidectomy-associations-with-aerodigestive-disorders
#5
G Scerrino, A Inviati, S Di Giovanni, N C Paladino, S Di Giovanni, N C Paladino, V Di Paola, C Raspanti, G I Melfa, F Cupido, S Mazzola, C Porrello, S Bonventre, G Gullotta
BACKGROUND: Patients undergoing thyroidectomy often complain aerodigestive disorders. In a previous study we showed the associations between voice impairment and proximal acid reflux, swallowing impairment and Upper Esophageal Sphyncter (UES) incoordination and the decrease in UES pressure in thirty-six patients observed before and soon afterwards uncomplicated thyroidectomy. This study investigated the state of post-thyroidectomy esophageal motility changes and its associations with these disorders after 18-24 months...
September 2017: Il Giornale di Chirurgia
https://www.readbyqxmd.com/read/28097793/living-with-cardiac-resynchronization-therapy-challenges-for-people-with-heart-failure
#6
Shadi Dehghanzadeh, Nahid Dehghan Nayeri, Shokoh Varaei, Jalal Kheirkhah
The number of people with heart failure requiring implantation of a cardiac resynchronization device is increasing in Iran. Although this intervention is an effective life-saving treatment, several challenges are associated with patients' lifestyle after insertion. This study identified the challenges and coping mechanisms of Iranians with heart failure living with cardiac resynchronization therapy. A qualitative approach using conventional content analysis was adopted. Seventeen people with heart failure and three nurses were recruited between December 2014 and November 2015 from a teaching hospital and a private clinic in Rasht, Iran...
January 18, 2017: Nursing & Health Sciences
https://www.readbyqxmd.com/read/28097441/elevated-preoperative-neutrophil-to-lymphocytes-ratio-predicts-poor-prognosis-after-esophagectomy-in-t1-esophageal-cancer
#7
Kenichi Nakamura, Naoya Yoshida, Yoshifumi Baba, Keisuke Kosumi, Tomoyuki Uchihara, Yuki Kiyozumi, Mayuko Ohuchi, Takatsugu Ishimoto, Masaaki Iwatsuki, Yasuo Sakamoto, Masayuki Watanabe, Hideo Baba
BACKGROUND: The neutrophil-to-lymphocyte ratio (NLR) has been reported to predict the prognosis of various malignant tumors, including esophageal cancer. However, no previous reports have supported the use of the preoperative NLR as an independent prognostic marker focused on superficial (T1) esophageal cancer. The aim of this study was to elucidate the prognostic impact of the preoperative NLR in T1 esophageal cancer. METHODS: This retrospective study recruited 245 consecutive patients with T1 esophageal cancer who underwent subtotal esophagectomy between 2005 and 2016...
January 17, 2017: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28097413/when-surgical-resources-are-severely-constrained-who-receives-care-determinants-of-access-to-orthopaedic-trauma-surgery-in-uganda
#8
Trina Stephens, Alexander Mezei, Nathan N O'Hara, Jeffrey Potter, Rodney Mugarura, Piotr A Blachut, Peter J O'Brien, Tito Beyeza, Gerard P Slobogean
BACKGROUND: In low- and middle-income countries, the volume of traumatic injuries requiring orthopaedic intervention routinely exceeds the capacity of available surgical resources. The objective of this study was to identify predictors of surgical care for lower extremity fracture patients at a high-demand, resource-limited public hospital in Uganda. METHODS: Skeletally mature patients admitted with the intention of definitive surgical treatment of an isolated tibia or femur fractures to the national referral hospital in Uganda were recruited to participate in this study...
January 17, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28097295/association-of-systemic-medication-use-with-intraocular-pressure-in-a-multiethnic-asian-population-the-singapore-epidemiology-of-eye-diseases-study
#9
Henrietta Ho, Yuan Shi, Jacqueline Chua, Yih-Chung Tham, Sing Hui Lim, Tin Aung, Tien Yin Wong, Ching-Yu Cheng
Importance: There is limited understanding of the associations between systemic medication use and intraocular pressure (IOP) in the general population. Objective: To examine the association between systemic medication use and IOP in a multiethnic Asian population. Design, Setting, and Participants: In this post hoc analysis of the Singapore Epidemiology of Eye Diseases study, a population-based study of 10 033 participants (78.7% response rate) from 3 racial/ethnic groups (Chinese [recruited from February 9, 2009, through December 19, 2011], Malays [recruited from August 16, 2004, though July 10, 2006], and Indians [recruited from May 21, 2007, through December 29, 2009]), participants with glaucoma, previous ocular surgery, or trauma and an IOP asymmetry greater than 5 mm Hg between eyes were excluded...
January 12, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28097068/hepatic-fibrosis-and-factors-associated-with-liver-stiffness-in-hiv-mono-infected-individuals
#10
Mihály Sulyok, Tamás Ferenci, Mihály Makara, Gábor Horváth, János Szlávik, Zsófia Rupnik, Luca Kormos, Zsuzsanna Gerlei, Zita Sulyok, István Vályi-Nagy
BACKGROUND: Liver disease has become an important cause of morbidity and mortality even in those HIV-infected individuals who are devoid of hepatitis virus co-infection. The aim of this study was to evaluate the degree of hepatic fibrosis and the role of associated factors using liver stiffness measurement in HIV mono-infected patients without significant alcohol intake. METHODS: We performed a cross-sectional study of 101 HIV mono-infected patients recruited prospectively from March 1, 2014 to October 30, 2014 at the Center for HIV, St István and St László Hospital, Budapest, Hungary...
2017: PeerJ
https://www.readbyqxmd.com/read/28096911/depression-and-catastrophizing-predict-suicidal-ideation-in-tertiary-care-patients-with-interstitial-cystitis-bladder-pain-syndrome
#11
Dean A Tripp, J Curtis Nickel, Adrijana Krsmanovic, Michel Pontari, Robert Moldwin, Robert Mayer, Lesley K Carr, Claire C Yang, Jorgen Nordling
INTRODUCTION: We sought to evaluate psychosocial factors as predictors of suicidal ideation (SI) in a tertiary care outpatient sample of women suffering from interstitial cystitis/bladder pain syndrome (IC/BPS). METHODS: The patients are women managed at tertiary care centres (n=190). Controls were recruited from the community (n=117). Both groups completed questionnaires on demographics, pain (McGill Pain Questionnaire), IC/BPS symptoms, and psychological variables...
November 2016: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28096678/risperidone-improves-interpersonal-perception-and-executive-function-in-patients-with-schizophrenia
#12
Zhenhe Zhou, Yuanyuan Zhu, Jun Wang, Hongmei Zhu
OBJECTIVE: To investigate whether risperidone improves social cognitive impairments and executive dysfunction in people with schizophrenia. METHODS: Fifty-six patients who met the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, diagnostic criteria for schizophrenia were allocated to a risperidone treatment group (RTG, n=28) and a typical antipsychotic treatment group (TATG, n=28). Twenty-eight healthy volunteers were recruited as the normal control group (NCG)...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28096574/awareness-during-general-anesthesia-an-indian-viewpoint
#13
Reshma P Ambulkar, Vandana Agarwal, Priya Ranganathan, Jigeeshu V Divatia
BACKGROUND AND AIMS: The incidence of intra-operative awareness with explicit recall in the Western world has been reported to be between 0.1% and 0.2% in the general surgical population and up to 1-2% of patients at high risk for this complication. Awareness in the Indian population has never been studied; we therefore wanted to detect the incidence of awareness in patients who were at high risk of experiencing awareness during surgery in our population. MATERIAL AND METHODS: We conducted a prospective single-center observational study at a 600-bedded tertiary cancer care referral hospital...
October 2016: Journal of Anaesthesiology, Clinical Pharmacology
https://www.readbyqxmd.com/read/28096505/the-neuropilin-2-isoform-nrp2b-uniquely-supports-tgf%C3%AE-mediated-progression-in-lung-cancer
#14
Robert M Gemmill, Patrick Nasarre, Joyce Nair-Menon, Federico Cappuzzo, Lorenza Landi, Armida D'Incecco, Hidetaka Uramoto, Takeshi Yoshida, Eric B Haura, Kent Armeson, Harry A Drabkin
Neuropilins (NRP1 and NRP2) are co-receptors for heparin-binding growth factors and class 3 semaphorins. Different isoforms of NRP1 and NRP2 are produced by alternative splicing. We found that in non-small cell lung cancer (NSCLC) cell lines, transforming growth factor-β (TGFβ) signaling preferentially increased the abundance of NRP2b. NRP2b and NRP2a differ only in their carboxyl-terminal regions. Although the presence of NRP2b inhibited cultured cell proliferation and primary tumor growth, NRP2b enhanced cellular migration, invasion into Matrigel, and tumorsphere formation in cultured cells in response to TGFβ signaling and promoted metastasis in xenograft mouse models...
January 17, 2017: Science Signaling
https://www.readbyqxmd.com/read/28096461/differential-contribution-of-transmembrane-domains-iv-v-vi-and-vii-to-human-angiotensin-ii-type-1-receptor-homomer-formation
#15
Brent M Young, Elaine Nguyen, Matthew A J Chedrawe, Jan K Rainey, Denis J Dupré
G protein-coupled receptors (GPCRs) play an important role in drug therapy, and represent one of the largest families of drug targets. The angiotensin II type 1 receptor (AT1R) is notable as it has a central role in the treatment of cardiovascular disease. Blockade of AT1R signaling has been shown to alleviate hypertension and improve outcomes in patients with heart failure. Despite this, it has become apparent that our initial understanding of AT1R signaling is over-simplified. There is considerable evidence to suggest that AT1R signaling is highly modified in the presence of receptor-receptor interactions, but there is very little structural data available to explain this phenomenon even with the recent elucidation of the AT1R crystal structure...
January 17, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28096407/development-of-chronic-allergic-responses-by-dampening-bcl6-mediated-suppressor-activity-in-memory-t-helper-2-cells
#16
Takashi Ogasawara, Masahiko Hatano, Hisae Satake, Jun Ikari, Toshibumi Taniguchi, Nobuhide Tsuruoka, Haruko Watanabe-Takano, Lisa Fujimura, Akemi Sakamoto, Hirokuni Hirata, Kumiya Sugiyama, Yasutsugu Fukushima, Susumu Nakae, Kenji Matsumoto, Hirohisa Saito, Takeshi Fukuda, Kazuhiro Kurasawa, Koichiro Tatsumi, Takeshi Tokuhisa, Masafumi Arima
Mice deficient in the transcriptional repressor B-cell CLL/lymphoma 6 (Bcl6) exhibit similar T helper 2 (TH2) immune responses as patients with allergic diseases. However, the molecular mechanisms underlying Bcl6-directed regulation of TH2 cytokine genes remain unclear. We identified multiple Bcl6/STAT binding sites (BSs) in TH2 cytokine gene loci. We found that Bcl6 is modestly associated with the BSs, and it had no significant effect on cytokine production in newly differentiated TH2 cells. Contrarily, in memory TH2 (mTH2) cells derived from adaptively transferred TH2 effectors, Bcl6 outcompeted STAT5 for binding to TH2 cytokine gene loci, particularly Interleukin4 (Il4) loci, and attenuated GATA binding protein 3 (GATA3) binding to highly conserved intron enhancer regions in mTH2 cells...
January 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28096174/anti-folate-receptor-%C3%AE-ige-but-not-igg-recruits-macrophages-to-attack-tumors-via-tnf-%C3%AE-mcp-1-signaling
#17
Debra H Josephs, Heather J Bax, Tihomir Dodev, Mirella Georgouli, Mano Nakamura, Giulia Pellizzari, Louise Saul, Panagiotis Karagiannis, Anthony Cheung, Cecilia Herraiz, Kristina M Ilieva, Isabel Correa, Matthew Fittall, Silvia Crescioli, Patrycja Gazinska, Natalie Woodman, Silvia Mele, Giulia Chiaruttini, Amy E Gilbert, Alexander Koers, Marguerite Bracher, Christopher Selkirk, Heike Lentfer, Claire Barton, Elliott Lever, Gareth Muirhead, Sophia Tsoka, Silvana Canevari, Mariangela Figini, Ana Montes, Noel Downes, David Dombrowicz, Christopher Corrigan, Andrew J Beavil, Frank O Nestle, Paul S Jones, Hannah J Gould, Victoria Sanz-Moreno, Philip J Blower, James Spicer, Sophia N Karagiannis
IgE antibodies are key mediators of anti-parasitic immune responses, but their potential for cancer treatment via antibody-directed cell-mediated cytotoxicity (ADCC) has been little studied. Recently, tumor antigen-specific IgEs were reported to restrict cancer cell growth by engaging high-affinity Fc receptors on monocytes and macrophages, however, the underlying therapeutic mechanisms were undefined and in vivo proof-of-concept was limited. Here, an immunocompetent rat model was designed to recapitulate the human IgE-Fcε receptor system for cancer studies...
January 17, 2017: Cancer Research
https://www.readbyqxmd.com/read/28096102/nihr-clinical-research-networks-what-they-do-and-how-they-help-paediatric-research
#18
REVIEW
Hanna Lythgoe, Victoria Price, Vanessa Poustie, Sabah Attar, Daniel Hawcutt, Jennifer Preston, Michael W Beresford
This review provides paediatricians with an update on the new structure of the National Institute for Health Research's (NIHR) Clinical Research Network (CRN): Children and its role within the wider NIHR infrastructure. The network supports delivery of high-quality research within the NHS in England and supports researchers, through provision of staff and resources, with feasibility, site set-up, patient recruitment and study management. Since 2013, over 80% of commercial contract studies running within the UK sat within the UKCRN Portfolio...
January 17, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28095997/abnormal-prefrontal-and-parietal-activity-linked-to-deficient-active-binding-in-working-memory-in-schizophrenia
#19
Stéphanie Grot, Virginie Petel Légaré, Olivier Lipp, Isabelle Soulières, Florin Dolcos, David Luck
Working memory deficits have been widely reported in schizophrenia, and may result from inefficient binding processes. These processes, and their neural correlates, remain understudied in schizophrenia. Thus, we designed an FMRI study aimed at investigating the neural correlates of both passive and active binding in working memory in schizophrenia. Nineteen patients with schizophrenia and 23 matched controls were recruited to perform a working memory binding task, in which they were instructed to memorize three letters and three spatial locations...
January 14, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28095945/conflict-monitoring-and-adaptation-as-reflected-by-n2-amplitude-in-obsessive-compulsive-disorder
#20
A Riesel, J Klawohn, N Kathmann, T Endrass
BACKGROUND: Feelings of doubt and perseverative behaviours are key symptoms of obsessive-compulsive disorder (OCD) and have been linked to hyperactive error and conflict signals in the brain. While enhanced neural correlates of error monitoring have been robustly shown, far less is known about conflict processing and adaptation in OCD. METHOD: We examined event-related potentials during conflict processing in 70 patients with OCD and 70 matched healthy comparison participants, focusing on the stimulus-locked N2 elicited in a flanker task...
January 18, 2017: Psychological Medicine
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