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https://www.readbyqxmd.com/read/29752652/disruption-of-the-responsible-gene-in-a-phosphoglucomutase-1-deficiency-patient-by-homozygous-chromosomal-inversion
#1
Katsuyuki Yokoi, Yoko Nakajima, Tamae Ohye, Hidehito Inagaki, Yoshinao Wada, Tokiko Fukuda, Hideo Sugie, Isao Yuasa, Tetsuya Ito, Hiroki Kurahashi
Phosphoglucomutase 1 (PGM1) deficiency is a recently defined disease characterized by glycogenosis and a congenital glycosylation disorder caused by recessive mutations in the PGM1 gene. We report a case of a 12-year-old boy with first-cousin parents who was diagnosed with a PGM1 deficiency due to significantly decreased PGM1 activity in his muscle. However, Sanger sequencing revealed no pathogenic mutation in the PGM1 gene in this patient. As this case presented with a cleft palate in addition to hypoglycemia and elevated transaminases and creatine kinase, karyotyping was performed and identified homozygous inv(1)(p31...
May 12, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29731530/noble-metal-nanostructures-in-optical-biosensors-basics-and-their-introduction-to-anti-doping-detection
#2
Hedieh Malekzad, Parham Sahandi Zangabad, Hadi Mohammadi, Mohsen Sadroddini, Zahra Jafari, Niloofar Mahlooji, Somaye Abbaspour, Somaye Gholami, Mana Ghanbarpoor, Rahim Pashazadeh, Ali Beyzavi, Mahdi Karimi, Michael R Hamblin
Nanotechnology has illustrated significant potentials in biomolecular-sensing applications; particularly its introduction to anti-doping detection is of great importance. Illicit recreational drugs, substances that can be potentially abused, and drugs with dosage limitations according to the prohibited lists announced by the World Antidoping Agency (WADA) are becoming of increasing interest to forensic chemists. In this review, the theoretical principles of optical biosensors based on noble metal nanoparticles, and the transduction mechanism of commonly-applied plasmonic biosensors are covered...
March 2018: Trends in Analytical Chemistry: TRAC
https://www.readbyqxmd.com/read/29722428/futility-of-current-urine-salbutamol-doping-control
#3
Jules A A C Heuberger, Sven C van Dijkman, Adam F Cohen
AIM: Salbutamol is used in the management of obstructive bronchospasm, including that of some elite athletes. It is claimed that high salbutamol (oral) doses may also have an anabolic effect. Therefore, inhalation of salbutamol is restricted by the World Anti-Doping Agency (WADA) to a maximal daily dose. Urine is tested for violations, but recent cases have resulted in a debate regarding the validity of this approach. It was our aim to determine whether current approaches are sufficiently able to differentiate approved usage from violations...
May 3, 2018: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29718083/neuropsychology-within-a-tertiary-care-epilepsy-center
#4
Chris E Morrison, William S MacAllister, William B Barr
Epilepsy is a prevalent condition characterized by variations in its clinical presentation, etiology, and amenability to treatment. Through history, neuropsychologists have played a significant role in performing research studies on changes in language, memory, and executive functioning in patients with epilepsy, including those undergoing surgical treatment for medically refractory seizures. These studies provided a foundation for establishing neuropsychologists as critical members of interdisciplinary clinical teams specializing in evaluation and treatment of epilepsy...
May 1, 2018: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/29709969/the-first-identification-of-human-adenovirus-57-hadv-57-in-japan
#5
Chika Tatsumi, Setsuko Iizuka, Tetsuo Mita, Mieko Wada, Nozomu Hanaoka, Tsuguto Fujimoto
Neutralization tests (NT) were routinely used for identification of human adenovirus C species (HAdV-C) in Japan until 2007. The aim of this study was to clarify serological cross-reactivity of antiserum used exclusively in Japan and describe the first identification of HAdV type 57 (HAdV-57) in Japan. Anti-HAdV serum to HAdV-1, 2, 5, and 6 was quantitatively evaluated for cross-reactivity to the HAdV-57 isolates. Anti-HAdV-6 serum neutralized HAdV-57 with 32 to 64 times higher the concentration necessary to neutralize homologous HAdV-6...
April 27, 2018: Japanese Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29702199/androgen-and-estrogen-receptor-mediated-activities-of-4-hydroxytestosterone-4-hydroxyandrostenedione-and-their-human-metabolites-in-yeast-based-assays
#6
Annekathrin Martina Keiler, Oliver Zierau, Sylvi Wolf, Patrick Diel, Wilhelm Schänzer, Günter Vollmer, David Machalz, Gerhard Wolber, Maria Kristina Parr
4-Hydroxyandrost-4-ene-3,17-dione, also named formestane, is an irreversible aromatase inhibitor and therapeutically used as anti-breast cancer medication in post-menopausal women. Currently, no therapeutical indication led to approval of its 17-hydroxylated analog 4-hydroxytestosterone, an anabolic steroid. However, it is currently investigated in a clinical trial for breast cancer. In context with sports doping, aromatase inhibitors are administered to reduce estrogenic side effects of misused anabolic substances or their metabolites...
April 24, 2018: Toxicology Letters
https://www.readbyqxmd.com/read/29700638/prognostic-impact-of-bleomycin-pulmonary-toxicity-on-the-outcomes-of-patients-with-germ-cell-tumors
#7
Yuki Maruyama, Takuya Sadahira, Yosuke Mitsui, Motoo Araki, Koichiro Wada, Ryuta Tanimoto, Yasuyuki Kobayashi, Masami Watanabe, Toyohiko Watanabe, Yasutomo Nasu
Bleomycin pulmonary toxicity (BPT) has been well described in patients with germ cell tumors treated with bleomycin etoposide and cisplatin chemotherapy (BEP). To assess the prognostic impact of BPT, we retrospectively identified 52 patients who underwent bleomycin etoposide and cisplatin chemotherapy from 2008 to 2017 in our institution, and evaluated the risk factors of BPT and its effect on prognosis. Patients who had received chemotherapy at another institution were excluded. BPT was defined as bleomycin discontinuation in response to pulmonary function test decline, pulmonary symptoms, or interstitial pneumonia on computed tomography without infection...
April 26, 2018: Medical Oncology
https://www.readbyqxmd.com/read/29691732/impact-of-the-cyp3a5-1-allele-on-the-pharmacokinetics-of-tacrolimus-in-japanese-heart-transplant-patients
#8
Takaya Uno, Kyoichi Wada, Sachi Matsuda, Yuka Terada, Akira Oita, Atsushi Kawase, Mitsutaka Takada
BACKGROUND AND OBJECTIVE: Tacrolimus, a major immunosuppressant used after transplantation, is associated with large interindividual variation involving genetic polymorphisms in metabolic processes. A common variant of the cytochrome P450 (CYP) 3A5 gene, CYP3A5*3, affects blood concentrations of tacrolimus. However, tacrolimus pharmacokinetics at the early stage of transplantation have not been adequately studied in heart transplantation. We retrospectively examined the impact of the CYP3A5 genotype on tacrolimus pharmacokinetics at the early stage of heart transplantation...
April 24, 2018: European Journal of Drug Metabolism and Pharmacokinetics
https://www.readbyqxmd.com/read/29689005/perioperative-complications-after-surgery-for-thoracic-ossification-of-posterior-longitudinal-ligament-nationwide-multicenter-prospective-study
#9
Shiro Imagama, Kei Ando, Kazuhiro Takeuchi, Satoshi Kato, Hideki Murakami, Toshimi Aizawa, Hiroshi Ozawa, Tomohiko Hasegawa, Yukihiro Matsuyama, Masao Koda, Masashi Yamazaki, Hirotaka Chikuda, Shigeo Shindo, Yukihiro Nakagawa, Atsushi Kimura, Katsushi Takeshita, Kanichiro Wada, Hiroyuki Katoh, Masahiko Watanabe, Kei Yamada, Takeo Furuya, Takashi Tsuji, Shunsuke Fujibayashi, Kanji Mori, Yoshiharu Kawaguchi, Kota Watanabe, Morio Matsumoto, Toshitaka Yoshii, Atsushi Okawa
STUDY DESIGN: Prospective, multicenter, nationwide study OBJECTIVE.: To investigate perioperative complications and risk factors in surgery for thoracic ossification of the posterior longitudinal ligament (T-OPLL) using data from the registry of the Japanese Multicenter Research Organization for Ossification of the Spinal Ligament. SUMMARY OF BACKGROUND DATA: There is no prospective multicenter study of surgical complications and risk factors for T-OPLL, and previous multicenter retrospective studies have lacked details...
April 23, 2018: Spine
https://www.readbyqxmd.com/read/29627620/efficacy-safety-and-tolerability-of-lubiprostone-for-the-treatment-of-non-alcoholic-fatty-liver-disease-in-adult-patients-with-constipation-the-lubiprone-double-blind-randomised-placebo-controlled-study-design
#10
Takaomi Kessoku, Kento Imajo, Takashi Kobayashi, Yasushi Honda, Takayuki Kato, Yuji Ogawa, Wataru Tomeno, Shingo Kato, Takuma Higurashi, Masato Yoneda, Hiroyuki Kirikoshi, Kazuki Kubota, Masataka Taguri, Takeharu Yamanaka, Haruki Usuda, Koichiro Wada, Satoru Saito, Atsushi Nakajima
BACKGROUND: This paper reports the protocol of a randomised, double-blind, placebo-controlled study to test the efficacy, safety, and tolerability of lubiprostone (LUB) vs. placebo on suppressing gut permeability in non-alcoholic fatty liver disease (NAFLD) patients with constipation. NAFLD, including non-alcoholic steatohepatitis (NASH), is a common chronic liver disorder. Progression is associated with increased gut permeability and gut-derived endotoxins. Most NAFLD/NASH clinical trial drugs aim to improve liver function or systemic metabolism...
April 5, 2018: Contemporary Clinical Trials
https://www.readbyqxmd.com/read/29610039/botulinum-toxin-type-a-treatment-combined-with-intensive-rehabilitation-for-gait-poststroke-a-preliminary-study
#11
Yuki Uchiyama, Tetsuo Koyama, Yosuke Wada, Masashi Katsutani, Norihiko Kodama, Kazuhisa Domen
GOAL: To examine the effects of botulinum toxin type A (BoNT-A) treatment combined with intensive rehabilitation for gait compared with intensive rehabilitation alone in patients with chronic stroke. MATERIALS AND METHODS: A comparative case series design was used. Subjects were 19 patients with chronic stroke and spastic hemiplegia. In 9 patients (group I), BoNT-A was injected into spastic muscles of the affected lower limbs, followed by a 4-week inpatient intensive rehabilitation program...
March 30, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29605711/fetal-cell-free-dna-fraction-in-maternal-plasma-for-the-prediction-of-hypertensive-disorders-of-pregnancy
#12
Nobuhiro Suzumori, Akihiko Sekizawa, Takeshi Ebara, Osamu Samura, Aiko Sasaki, Rina Akaishi, Seiji Wada, Haruka Hamanoue, Fumiki Hirahara, Haruna Izumi, Hideaki Sawai, Hiroaki Nakamura, Takahiro Yamada, Kiyonori Miura, Hideaki Masuzaki, Takahiro Yamashita, Takashi Okai, Yoshimasa Kamei, Akira Namba, Jun Murotsuki, Tomohiro Tanemoto, Akimune Fukushima, Kazufumi Haino, Shinya Tairaku, Keiichi Matsubara, Kazutoshi Maeda, Takashi Kaji, Masanobu Ogawa, Hisao Osada, Haruki Nishizawa, Yoko Okamoto, Takeshi Kanagawa, Aiko Kakigano, Michihiro Kitagawa, Masaki Ogawa, Shunichiro Izumi, Yukiko Katagiri, Naoki Takeshita, Yasuyo Kasai, Katsuhiko Naruse, Reiko Neki, Hisashi Masuyama, Maki Hyodo, Yukie Kawano, Takashi Ohba, Kiyotake Ichizuka, Takeshi Nagamatsu, Atsushi Watanabe, Nahoko Shirato, Junko Yotsumoto, Miyuki Nishiyama, Tatsuko Hirose, Haruhiko Sago
OBJECTIVE: The purpose of this study is to compare the fetal fractions during non-invasive prenatal testing (NIPT) in singleton pregnancies according to gestational age and maternal characteristics to evaluate the utility of this parameter for the prediction of pregnancy complications including gestational diabetes mellitus (GDM) and hypertensive disorders of pregnancy (HDP). STUDY DESIGN: This study was a multicenter prospective cohort study. The present data were collected from women whose NIPT results were negative...
May 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29581674/novel-method-for-evaluation-of-hindfoot-alignment-in-weight-bearing-position-using-laser-beam
#13
Tadasuke Ohnishi, Mitsumasa Hida, Yukio Nakamura, Chikamune Wada
[Purpose] It is clinically important to accurately evaluate the alignment of hindfoot alignment from the body surface in weight-bearing position. In general, measurement is carried out using a goniometer, but the measurement with goniometer requires experience, and the reliability in this measurement is also in question. Therefore, it is necessary to establish a clinical measurement method to replace the goniometer. As a solution, we devised a hindfoot alignment measurement method with laser beam (HAML), which measures hindfoot alignment along the body surface using a laser beam...
March 2018: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/29581068/total-hip-arthroplasty-after-a-previous-pelvic-osteotomy-a-systematic-review-and-meta-analysis
#14
T Shigemura, Y Yamamoto, Y Murata, T Sato, R Tsuchiya, Y Wada
BACKGROUND: There are several reports regarding total hip arthroplasty (THA) after a previous pelvic osteotomy (PO). However, to our knowledge, until now there has been no formal systematic review and meta-analysis published to summarize the clinical results of THA after a previous PO. Therefore, we conducted a systematic review and meta-analysis of results of THA after a previous PO. We focus on these questions as follows: does a previous PO affect the results of subsequent THA, such as clinical outcomes, operative time, operative blood loss, and radiological parameters...
March 23, 2018: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/29580114/athletes-and-supplements-prevalence-and-perspectives
#15
Ina Garthe, Ronald J Maughan
In elite sport, where opponents are evenly matched, small factors can determine the outcome of sporting contests. Not all athletes know the value of making wise nutrition choices, but anything that might give a competitive edge, including dietary supplements, can seem attractive. Between 40% and 100% of athletes typically use supplements, depending on the type of sport, level of competition, and the definition of supplements. However, unless the athlete has a nutrient deficiency, supplementation may not improve performance and may have a detrimental effect on both performance and health...
March 26, 2018: International Journal of Sport Nutrition and Exercise Metabolism
https://www.readbyqxmd.com/read/29572989/development-of-a-multi-functional-concurrent-assay-using-weak-cation-exchange-solid-phase-extraction-wcx-spe-and-reconstitution-with-a-diluted-sample-aliquot-for-anti-doping-analysis
#16
Yongseok Kim, Mijin Jeon, Hophil Min, Junghyun Son, Jaeick Lee, Oh-Seung Kwon, Myeong Hee Moon, Ki Hun Kim
RATIONALE: In addition to the development of adequate screening methods for multiple compounds, the World Anti-Doping Agency (WADA) requires anti-doping laboratories to analyze prohibited substances and their metabolites from various classes. This task presents a difficult challenge for all agencies and interests involved in the field of doping control. METHODS: A screening method is reported in which hybrid sample preparation was performed using a combination of weak cation exchange solid phase extraction (WCX-SPE) and the "Dilute and Shoot" strategy in order to take advantage of both the methodologies...
March 23, 2018: Rapid Communications in Mass Spectrometry: RCM
https://www.readbyqxmd.com/read/29569808/a-voxel-based-asymmetry-study-of-the-relationship-between-hemispheric-asymmetry-and-language-dominance-in-wada-tested-patients
#17
Simon S Keller, Neil Roberts, Gus Baker, Vanessa Sluming, Enis Cezayirli, Andrew Mayes, Paul Eldridge, Anthony G Marson, Udo C Wieshmann
Determining the anatomical basis of hemispheric language dominance (HLD) remains an important scientific endeavor. The Wada test remains the gold standard test for HLD and provides a unique opportunity to determine the relationship between HLD and hemispheric structural asymmetries on MRI. In this study, we applied a whole-brain voxel-based asymmetry (VBA) approach to determine the relationship between interhemispheric structural asymmetries and HLD in a large consecutive sample of Wada tested patients. Of 135 patients, 114 (84...
March 23, 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/29566060/mers-cov-pathogenesis-and-antiviral-efficacy-of-licensed-drugs-in-human-monocyte-derived-antigen-presenting-cells
#18
Yu Cong, Brit J Hart, Robin Gross, Huanying Zhou, Matthew Frieman, Laura Bollinger, Jiro Wada, Lisa E Hensley, Peter B Jahrling, Julie Dyall, Michael R Holbrook
Middle East respiratory syndrome coronavirus (MERS-CoV) presents an emerging threat to public health worldwide by causing severe respiratory disease in humans with high virulence and case fatality rate (about 35%) since 2012. Little is known about the pathogenesis and innate antiviral response in primary human monocyte-derived macrophages (MDMs) and dendritic cells (MDDCs) upon MERS-CoV infection. In this study, we assessed MERS-CoV replication as well as induction of inflammatory cytokines and chemokines in MDMs and immature and mature MDDCs...
2018: PloS One
https://www.readbyqxmd.com/read/29563380/a-pitfall-in-the-diagnosis-of-bilateral-deep-vein-thrombosis-in-a-young-man
#19
Yusuke Adachi, Kenichi Sakakura, Tomohisa Okochi, Takaaki Mase, Mitsunari Matsumoto, Hiroshi Wada, Hideo Fujita, Shin-Ichi Momomura
A 32-year-old man with a history of bronchial asthma was referred for low back pain and bilateral femur pain. Vascular sonography revealed bilateral deep vein thrombosis (DVT) from the femoral veins to the popliteal veins. Computed tomography revealed hypoplasia of the inferior vena cava (IVC) and dilated lumbar veins, ascending lumbar veins, and azygos vein as collaterals. There was no evidence of malignant neoplasm. The results of the thrombophilia tests were within normal limits. Hypoplasia of the IVC is a rare cause of DVT...
March 20, 2018: International Heart Journal
https://www.readbyqxmd.com/read/29531653/characterization-and-antimicrobial-susceptibility-profile-of-bacteraemia-causing-pathogens-isolated-from-febrile-children-with-and-without-sickle-cell-disease-in-kano-nigeria
#20
Nafisatu Bello, Abubakar Tukur Dawakin Kudu, Azeezat Bolanle Adetokun, Dalha Wada Taura, Yusuf Dan'asabe Jobbi, Mustapha Umar, Ibrahim Yusuf
Background and Objectives: Bacterial infection in sickle cell anaemic patients is a major cause of mortality and requires proper treatment with appropriate antibiotics. However, continue defiant of these infections causing pathogens to many antibiotics and inadequate screening methods in overburden health care facilities such as our in Kano, Nigeria necessitates the conduct of this study. A research was therefore conducted to isolate, characterize and test for antimicrobial susceptibility of bacteraemia-causing pathogens from febrile children with and without sickle cell disease in Kano, Nigeria...
2018: Mediterranean Journal of Hematology and Infectious Diseases
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