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https://www.readbyqxmd.com/read/28548587/comparison-of-efficacy-between-tace-combined-with-apatinib-and-tace-alone-in-the-treatment-of-intermediate-and-advanced-hepatocellular-carcinoma-a-single-center-randomized-controlled-trial
#1
Wei Lu, Xin-Li Jin, Chao Yang, Peng Du, Fu-Qiang Jiang, Jun-Peng Ma, Jian Yang, Peng Xie, Zhe Zhang
OBJECTIVE: This study was designed to compare the clinical efficacy and safety of transcatheter arterial chemoembolization (TACE) combined with apatinib and TACE alone in the treatment of intermediate and advanced hepatocellular carcinoma (HCC). METHODS: From March 2015 to August 2015, a total of 44 patients with moderate and advanced HCC, who were admitted in the Navy General Hospital of China, were included into this study. These patients were randomly divided into two groups: group A and group B...
May 26, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/28547204/fsh-receptor-gene-p-thr307ala-and-p-asn680ser-polymorphisms-are-associated-with-the-risk-of-polycystic-ovary-syndrome
#2
Jin Ju Kim, Young Min Choi, Min A Hong, Soo Jin Chae, Kyuri Hwang, Sang Ho Yoon, Seung Yup Ku, Chang Suk Suh, Seok Hyun Kim
PURPOSE: The purpose of this study was to investigate whether the follicle-stimulating hormone receptor (FSHR) gene p. Thr307Ala (c.919A>G, rs6165) and p. Asn680Ser (c.2039A>G, rs6166) polymorphisms are associated with susceptibility to polycystic ovary syndrome (PCOS). METHODS: Genotyping was performed in 377 women with PCOS and 388 age-matched controls. Difference in the genotype distribution was assessed using a Fisher's exact or chi-square test, and continuous variables were compared using a Student's t test...
May 25, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28546999/a-birth-of-bipartite-exon-by-intragenic-deletion
#3
Kandai Nozu, Kazumoto Iijima, Toru Igarashi, Shiro Yamada, Jana Kralovicova, Yoshimi Nozu, Tomohiko Yamamura, Shogo Minamikawa, Ichiro Morioka, Takeshi Ninchoji, Hiroshi Kaito, Koichi Nakanishi, Igor Vorechovsky
BACKGROUND: Disease-causing mutations that activate transposon-derived exons without creating a new splice-site consensus have been reported rarely, but they provided unique insights into our understanding of structural motifs required for inclusion of intronic sequences in mature transcripts. METHODS: We employ a combination of experimental and computational techniques to characterize the first de novo bipartite exon activation in genetic disease. RESULTS: The exon originated from two separate introns as a result of an in-frame COL4A5 deletion associated with a typical Alport syndrome...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28546868/evaluation-of-porcine-reproductive-and-respiratory-syndrome-stabilization-protocols-in-23-french-farrow-to-finish-farms-located-in-a-high-density-swine-area
#4
Pauline Berton, Valérie Normand, Guy-Pierre Martineau, Franck Bouchet, Arnaud Lebret, Agnès Waret-Szkuta
BACKGROUND: Porcine reproductive and respiratory syndrome virus (PRRSV) is responsible for reproductive disorders in sows and respiratory problems in pigs, and has a major economic impact. Controlling PRRSV is therefore a priority for the swine industry. Stabilization of a herd, defined as the production of PRRSV-negative pigs at weaning from seropositive sows, is a common method of control, and different protocols have been described in the literature to achieve this stabilization. CONTEXT AND PURPOSE: The objective of this study was to evaluate wether the combination of mass vaccination of sows and their piglets with a Genotype I modified live virus (MLV) vaccine, with temporal closure to the introduction of replacement animals and unidirectional pig and human flow can result in the production of PRRSV-negative pigs at weaning...
2017: Porcine Health Management
https://www.readbyqxmd.com/read/28545008/psychiatric-disorders-in-a-cohort-of-individuals-with-prader-willi-syndrome
#5
L Shriki-Tal, H Avrahamy, Y Pollak, V Gross-Tsur, L Genstil, H J Hirsch, F Benarroch
BACKGROUND: Psychiatric manifestations in Prader-Willi Syndrome (PWS) are common and often are the most debilitating problem in these individuals. We present an epidemiological nation-wide survey of psychiatric diagnoses in the PWS population, based on full-range psychiatric interviews. METHODS: We studied the distribution of psychiatric diagnoses (as opposed to a symptom-based approach) in the Israel national cohort of adolescents and adults with PWS. There was a total of 53 (32 males) ages 12 years and older...
April 5, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28544784/presynaptic-congenital-myasthenic-syndrome-with-a-homozygous-sequence-variant-in-lama5-combines-myopia-facial-tics-and-failure-of-neuromuscular-transmission
#6
Ricardo A Maselli, Juan Arredondo, Jessica Vázquez, Jessica X Chong, Michael J Bamshad, Deborah A Nickerson, Marian Lara, Fiona Ng, Victoria L Lo, Peter Pytel, Craig M McDonald
Defects in genes encoding the isoforms of the laminin alpha subunit have been linked to various phenotypic manifestations, including brain malformations, muscular dystrophy, ocular defects, cardiomyopathy, and skin abnormalities. We report here a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The variant c.8046C>T (p.Arg2659Trp) is rare and has a predicted deleterious effect. The affected individual, who also carries a rare homozygous sequence variant in LAMA1, had muscle weakness, myopia, and facial tics...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544751/constitutional-abnormalities-of-idh1-combined-with-secondary-mutations-predispose-a-patient-with-maffucci-syndrome-to-acute-lymphoblastic-leukemia
#7
Shinsuke Hirabayashi, Masafumi Seki, Daisuke Hasegawa, Motohiro Kato, Nobuyuki Hyakuna, Takuya Shuo, Shunsuke Kimura, Kenichi Yoshida, Keisuke Kataoka, Yoichi Fujii, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Nobutaka Kiyokawa, Satoru Miyano, Seishi Ogawa, Junko Takita, Atsushi Manabe
Maffucci syndrome is a nonhereditary disorder caused by somatic mosaic isocitrate dehydrogenase 1 or 2 (IDH1 or IDH2) mutations and is characterized by multiple enchondromas along with hemangiomas. Malignant transformation of enchondromas to chondrosarcomas and secondary neoplasms, such as brain tumors or acute myeloid leukemia, are serious complications. A 15-year-old female with Maffucci syndrome developed B-cell precursor acute lymphoblastic leukemia (BCP-ALL). A somatic mutation in IDH1 was detected in hemangioma and leukemic cells...
May 24, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28544540/serum-adrenomedullin-and-urinary-thromboxane-b2-help-early-categorizing-acute-kidney-injury-in-de-compensated-cirrhotic-patients-a-prospective-cohort-study
#8
Chih-Wei Liu, Chia-Chang Huang, Hung-Cheng Tsai, Yen-Bo Su, Shiang-Fen Huang, Kuei-Chuan Lee, Yun-Cheng Hsieh, Tzu-Hao Li, Chang-Youh Tsai, Lee-Won Chong, Shuo-Ming Ou, Ying-Ying Yang, Wen-Chien Fan, Ming-Chih Hou, Han-Chieh Lin, Shou-Dong Lee
AIMS: Increases in the systemic vasodilator adrenomedullin and the renal vasoconstrictors thromboxane A2 (TXA2 ) in cirrhotic patients are pathogenic factors for the development of functional acute-kidney-injury, including pre-renal azotemia (PRA) and hepatorenal syndrome (HRS), which is associated with high mortality. This study aims to find biomarkers which can diagnose HRS in early stage for treating it as soon as possible. METHODS: Acute decompensated cirrhotic patients who had been admitted to hospital were enrolled in this prospective cohort study...
May 20, 2017: Hepatology Research: the Official Journal of the Japan Society of Hepatology
https://www.readbyqxmd.com/read/28543399/baroreceptor-stimulation-in-a-patient-with-preexisting-subcutaneous-implantable-cardioverter-defibrillator
#9
Kay F Weipert, Jens Andrick, Ritvan Chasan, Christopher Gemein, Astrid Most, Christian W Hamm, Damir Erkapic, Joern Schmitt
BACKGROUND: Many patients with severe heart failure (HF) have an indication for baroreflex activation therapy (BAT) and an ICD. Concerns about device-device interactions were addressed in a study with small sample size that concluded combined BAT and ICD therapy is safe. There are no published data, however, concerning device-device interactions between BAT and a subcutaneous ICD (S-ICD). Since BAT frequently interferes with surface ECG recordings there are doubts about compatibility of BAT and S-ICD devices...
May 24, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28543191/methadone-buprenorphine-and-naltrexone-for-the-treatment-of-opioid-use-disorder-in-pregnant-women
#10
Tran H Tran, Brooke L Griffin, Rebecca H Stone, Kathleen M Vest, Timothy J Todd
Pregnant women with opioid use disorder can be treated with methadone, buprenorphine, or naltrexone to reduce opioid use and improve retention to treatment. In this review, we compare the pregnancy outcomes of methadone, buprenorphine, and naltrexone in clinical trials and discuss the potential behavioral and developmental effects of these agents seen in offspring in animal studies. Important clinical considerations in the management of opioid use disorder in pregnant women and their infants are also discussed...
May 24, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28542584/the-emergence-and-evolution-of-the-research-fronts-in-hiv-aids-research
#11
David Fajardo-Ortiz, Malaquias Lopez-Cervantes, Luis Duran, Michel Dumontier, Miguel Lara, Hector Ochoa, Victor M Castano
In this paper, we have identified and analyzed the emergence, structure and dynamics of the paradigmatic research fronts that established the fundamentals of the biomedical knowledge on HIV/AIDS. A search of papers with the identifiers "HIV/AIDS", "Human Immunodeficiency Virus", "HIV-1" and "Acquired Immunodeficiency Syndrome" in the Web of Science (Thomson Reuters), was carried out. A citation network of those papers was constructed. Then, a sub-network of the papers with the highest number of inter-citations (with a minimal in-degree of 28) was selected to perform a combination of network clustering and text mining to identify the paradigmatic research fronts and analyze their dynamics...
2017: PloS One
https://www.readbyqxmd.com/read/28541008/protein-losing-enteropathy-as-a-complication-of-the-ketogenic-diet
#12
Won Kee Ahn, Soyoung Park, Heung Dong Kim
The ketogenic diet is an effective treatment for the patients with intractable epilepsy, however, the diet therapy can sometimes be discontinued by complications. Protein-losing enteropathy is a rarely reported serious complication of the ketogenic diet. We present a 16-month-old Down syndrome baby with protein-losing enteropathy during the ketogenic diet as a treatment for West syndrome. He suffered from diarrhea, general edema and hypoalbuminemia which were not controlled by conservative care for over 1 month...
July 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28540989/combined-effect-of-initial-and-longitudinal-increases-in-%C3%AE-glutamyltransferase-on-incident-metabolic-syndrome-arirang-study
#13
Dhananjay Yadav, Mi Young Lee, Jang Young Kim, Hoon Ryu, Ji Hye Huh, Keum Seok Bae, Song Vogue Ahn, Choon Hee Chung, Jong Taek Park, Sang Baek Koh
PURPOSE: Although γ-glutamyltransferase (GGT) is well known to be associated with metabolic syndrome (MS), prospective data on baseline and longitudinal changes in GGT levels and incident cases of MS are limited. We aimed to examine prospective associations between changes in GGT levels over time, as well as at baseline, and incident MS in Korean adults. MATERIALS AND METHODS: A total of 2579 Korean adults free of MS were followed up for 2.6 years. Data were collected from 2005-2008 (baseline) and from 2008-2011 (follow-up)...
July 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28540977/oral-contraceptive-pill-progestogen-or-oestrogen-pretreatment-for-ovarian-stimulation-protocols-for-women-undergoing-assisted-reproductive-techniques
#14
REVIEW
Cindy Farquhar, Luk Rombauts, Jan Am Kremer, Anne Lethaby, Reuben Olugbenga Ayeleke
BACKGROUND: Among subfertile women undergoing assisted reproductive technology (ART), hormone pills given before ovarian stimulation may improve outcomes. OBJECTIVES: To determine whether pretreatment with the combined oral contraceptive pill (COCP) or with a progestogen or oestrogen alone in ovarian stimulation protocols affects outcomes in subfertile couples undergoing ART. SEARCH METHODS: We searched the following databases from inception to January 2017: Cochrane Gynaecology and Fertility Group Specialised Register, The Cochrane Central Register Studies Online, MEDLINE, Embase, CINAHL and PsycINFO...
May 25, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28540848/myoclonic-jerks-are-commonly-associated-with-absence-seizures-in-early-onset-absence-epilepsy
#15
Hala Nasser, Elisa Lopez-Hernandez, Adina Ilea, Neli Le Morvan, Vanina Bellavoine, Catherine Delanoë, Stéphane Auvin
Typical absence seizures are observed in various epilepsy syndromes, however, few series have focused on early-onset absence epilepsy (EOAE). We aimed to evaluate the occurrence of this seizure type in children under 4 years of age in order to evaluate their electroclinical characteristics and outcome. We retrospectively studied (2006-2014) the electroclinical features of children with normal development and typical absence seizures starting before the age of 4 (with available pre-treatment video-EEG). Nine patients were included...
May 24, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28540671/multidisciplinary-management-of-mycosis-fungoides-s%C3%A3-zary-syndrome
#16
REVIEW
Sara Berg, Jennifer Villasenor-Park, Paul Haun, Ellen J Kim
PURPOSE OF REVIEW: Diagnosis and management of mycosis fungoides and Sézary syndrome (MF/SS) require accurate clinicopathological correlation and a multidisciplinary approach. We reviewed major advances in the field regarding diagnostic and prognostic tools as well as skin-directed therapies (SDTs) and systemic agents for MF/SS published in the past 2 years. RECENT FINDINGS: Improved technology (T-cell receptor high-throughput sequencing) and increased multicenter collaboration (Cutaneous Lymphoma International Consortium) have led to diagnostic/prognostic advances...
May 24, 2017: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/28540525/identification-of-22q11-2-deletion-syndrome-via-newborn-screening-for-severe-combined-immunodeficiency
#17
Jessica C Barry, Terrence Blaine Crowley, Soma Jyonouchi, Jennifer Heimall, Elaine H Zackai, Kathleen E Sullivan, Donna M McDonald-McGinn
PURPOSE: Chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome, is quite variable. Neonatal diagnosis traditionally relies on recognition of classic features and cytogenetic testing, but many patients come to attention only following identification of later onset conditions, such as hypernasal speech due to palatal insufficiency and developmental and behavioral differences including speech delay, autism, and learning disabilities that would benefit from early interventions...
May 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28540445/indications-for-kidney-biopsy-in-idiopathic-childhood-nephrotic-syndrome
#18
Alanoud Alshami, Abishek Roshan, Marisa Catapang, Jasper J Jöbsis, Trevor Kwok, Nonnie Polderman, Jennifer Sibley, Matt Sibley, Cherry Mammen, Douglas G Matsell
BACKGROUND: Most cases of childhood nephrotic syndrome (NS) are due to minimal change disease (MCD), while a minority of children have focal segmental glomerulosclerosis (FSGS) and an unfavorable clinical course, requiring a kidney biopsy to confirm diagnosis. We hypothesized that clinical characteristics at diagnosis and initial response to corticosteroid treatment accurately predict FSGS and can be used to guide consistent practice in the indications for kidney biopsy. METHODS: This was a case control study (1990-2012)...
May 24, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28540321/novel-scn1a-and-gabra1-gene-mutations-with-diverse-phenotypic-features-and-the-question-on-the-existence-of-a-broader-spectrum-of-dravet-syndrome
#19
Maria P Gontika, Christopher Konialis, Constantine Pangalos, Antigone Papavasiliou
In the light of modern molecular technologies, the understanding of the complexity of the numerous genotype-phenotype correlations regarding Dravet syndrome is mandatory. Motivated by 2 patients, whose whole-exome sequencing revealed novel mutations that exemplify the phenotypic and genetic heterogeneities associated with typical and atypical Dravet syndrome presentations, the authors discuss the existence of a broader spectrum of Dravet syndrome. The first patient is a 4-year-old boy with fairly typical Dravet syndrome and a novel sodium channel α1 subunit gene mutation of high-predicted combined pathogenicity likelihood...
January 2017: Child Neurol Open
https://www.readbyqxmd.com/read/28539673/compartment-syndrome-and-regional-anaesthesia-critical-review
#20
Jozef Klucka, Petr Stourac, Alena Stouracova, Michal Masek, Martin Repko
Acute compartment syndrome (ACS) is a potential orthopaedic/traumatology emergency. Without prompt, precise diagnosis and immediate treatment with surgical decompressive fasciotomy it can lead to neurological dysfunction and disability. The role of regional anaesthesia (RA) in patients at risk for ACS/ and in those with developed ACS is controversial. The aim of this critical review was to answer the question, whether regional anaesthesia can delay the diagnosis. The authors use an evidence-based approach to discuss these high risk patients in considering RA as a method of choice for effective analgesia...
May 24, 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
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