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Dahye Kim, Jung Min Ko, Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo
Argininosuccinic aciduria (ASA), which is considered to be the second most common urea cycle disorder (UCD), is caused by an argininosuccinate lyase deficiency and is biochemically characterized by elevation of argininosuccinic acid and arginine deficiency. In addition to hyperammonemia, other characteristic features of ASA include hepatic fibrosis, hypertension, neurocognitive deficiencies, and trichorrhexis nodosa. Herein, we retrospectively reviewed the clinical findings, biochemical profiles, and genotypic characteristics of five Korean patients with ASA, who showed typical phenotypes and biochemical findings of the disease...
May 17, 2018: Journal of Human Genetics
Shigekazu Yano, Wasana Suyotha, Sumika Zanma, Hiroyuki Konno, Vipavee Cherdvorapong, Mamoru Wakayama
α-1,3-Glucanase (Agl-KA) of Bacillus circulans KA-304 consists of an N-terminal discoidin domain (DS1), a carbohydrate binding module family 6 (CBM6), threonine and proline repeats (TP), a second discoidin domain (DS2), an uncharacterized conserved domain (UCD), and a C-terminal catalytic domain. Previously, we reported that DS1, CBM6, and DS2 have α-1,3-glucan-binding activity and contribute to α-1,3-glucan hydrolysis. In this study, UCD deletion mutant (AglΔUCD) was constructed, and its properties were compared with those of Agl-KA...
May 8, 2018: Journal of General and Applied Microbiology
Xuan Lan, Zhaoming Li, Mingzhi Zhang
PURPOSE: HIV negative Castleman's disease has been reported as a group of poorly understood lymphoproliferative disorder, and we want to explore the clinical feature and prognosis factors of CD. METHODS: We retrospectively collected the clinical information of 71 CD patients without HIV infection diagnosed in the first affiliated hospital of Zhengzhou university. RESULTS: Different clinical classifications, including 35 patients (49.30%) with unicentric Castleman disease and 36 (50...
May 7, 2018: Journal of Cancer Research and Clinical Oncology
Shin-Ichi Ohira, Kyosuke Kaneda, Toru Matsuzaki, Shuta Mori, Masanobu Mori, Kei Toda
Most quantifications are achieved by comparison of the signals obtained with the sample to those from a standard. Thus, the purity and stability of the standard are key in chemical analysis. Furthermore, if an analyte standard cannot be obtained, quantification cannot be achieved, even if the chemical structures are identified by a qualification method (e.g. high-resolution mass spectrometry). Herein, we describe a universal and analyte standard-free detector for aqueous-eluent-based high-performance liquid chromatography...
May 7, 2018: Analytical Chemistry
J Lawrence Merritt, Linnea L Brody, Gisele Pino, Piero Rinaldo
Current newborn screening (NBS) for urea cycle disorders (UCD) is incomplete as only distal UCDs are included in most NBS programs by measuring elevated amino acid concentrations. NBS for the proximal UCDs involves the detection in NBS spots of low citrulline values, a finding which is often overlooked because it is considered to be inadequate. We retrospectively analyzed NBS blood spots from known UCD patients comparing the utility of the Region 4 Stork (R4S) interpretive tools to conventional cutoff based interpretation...
April 20, 2018: Molecular Genetics and Metabolism
Gerda Bernhard, Cornelia Mahler, Hanna Marita Seidling, Marion Stützle, Dominik Ose, Ines Baudendistel, Michel Wensing, Joachim Szecsenyi
BACKGROUND: Information technology tools such as shared patient-centered, Web-based medication platforms hold promise to support safe medication use by strengthening patient participation, enhancing patients' knowledge, helping patients to improve self-management of their medications, and improving communication on medications among patients and health care professionals (HCPs). However, the uptake of such platforms remains a challenge also due to inadequate user involvement in the development process...
March 27, 2018: Journal of Medical Internet Research
Dan Yang, Xuan Zhou, Youcai Zhao, Shibin Cao, Ailing Su, Xuezhong Zhang, Yanli Xu, Xiuqun Zhang
Multicentric Castleman's disease (MCD) is a rare kind of lymphoproliferative disorder characterized by systemic problems such as frequent fever, fatigue and weight loss with angiofollicular lymph node hyperplasia. However, unlike unicentric Castleman's disease (UCD) with long-time survival by surgery and local radiotherapy, MCD remains poor prognosis due to no well-defined optimal treatment strategies and high risk of developing malignances especially lymphoma. We reported a case of MCD who received chemotherapy by ECHOP with unsatisfactory outcome and then oral administration with thalidomide combined with prednisone without disease progression after therapy...
March 26, 2018: Cancer Biology & Therapy
Xiao Chen, Zhongqiu Wang, Guoying Zhu, Gunnar F Nordberg, Xiaoqiang Ding, Taiyi Jin
Studies in vivo and in vitro have shown a protective effect of zinc against renal dysfunction caused by cadmium exposure. However, limited human data is available. In this study, we evaluated the association between renal tubular dysfunction and body zinc burden in a Chinese population exposed to cadmium. A total of 331 subjects (170 women and 161 men) living in control and cadmium-polluted area were included. Blood cadmium (BCd), urinary cadmium (UCd), serum zinc (SZn), zinc in hair (HZn), Zn/Cd ratio, and urinary β2 Microglobulin (UBMG) were measured...
March 25, 2018: Biological Trace Element Research
René E Mayer, Georg Reischer, Simone K Ixenmaier, Julia Derx, Alfred Paul Blaschke, James Edward Ebdon, Rita Linke, Lukas Egle, Warish Ahmed, Anicet Blanch, Denis Byamukama, Marion Savill, Douglas Mushi, Hector A Cristóbal, Thomas A Edge, Margit A Schade, Asli Aslan, Yolanda M Brooks, Regina Sommer, Yoshifumi Masago, Maria Ines Z Sato, Huw D Taylor, Joan B Rose, Stefan Wuertz, Orin C Shanks, Harald Piringer, Domenico Savio, Robert L Mach, Matthias Zessner, Andreas H Farnleitner
Numerous bacterial genetic markers are available for the molecular detection of human sources of fecal pollution in environmental waters. However, widespread application is hindered by a lack of knowledge regarding geographical stability, limiting implementation to a small number of well-characterized regions. This study investigates the geographic distribution of five human-associated genetic markers (HF183/BFDrev, HF183/BacR287, BacHum-UCD, BacH, and Lachno2) in municipal wastewaters (raw and treated) from 29 urban and rural wastewater treatment plants (750 - 4,400,000 population equivalents) from 13 countries spanning six continents...
March 23, 2018: Environmental Science & Technology
A E Webb, I A Youngworth, M Kaya, C L Gitter, E A O'Hare, B May, H H Cheng, M E Delany
Wingless-2 (wg-2) is an autosomal recessive mutation in chicken that results in an embryonic lethal condition. Affected individuals exhibit a multisystem syndrome characterized by absent wings, truncated legs, and craniofacial, kidney, and feather malformations. Previously, work focused on phenotype description, establishing the autosomal recessive pattern of Mendelian inheritance and placing the mutation on an inbred genetic background to create the congenic line UCD Wingless-2.331. The research described in this paper employed the complementary tools of breeding, genetics, and genomics to map the chromosomal location of the mutation and successively narrow the size of the region for analysis of the causative element...
June 1, 2018: Poultry Science
Nina Hediger, Markus A Landolt, Carmen Diez-Fernandez, Martina Huemer, Johannes Häberle
Neonatal onset hyperammonemia in patients with urea cycle disorders (UCDs) is still associated with high morbidity and mortality. Current protocols consistently recommend emergency medical and dietary management. In case of increasing or persistent hyperammonemia, with continuous or progressive neurological signs, dialysis is performed, mostly as ultima ratio. It is presently unknown whether the currently defined ammonia threshold (e.g., at 500 μmol/L) to start dialysis is useful to improve clinical outcome...
March 8, 2018: Journal of Inherited Metabolic Disease
Brita Sedlmayr, Jennifer Schöffler, Hans-Ulrich Prokosch, Martin Sedlmayr
BACKGROUND: The use of a nationwide medication plan has been promoted as an effective strategy to improve patient safety in Germany. However, the medication plan only exists as a paper-based version, which is related to several problems, that could be circumvented by an electronic alternative. OBJECTIVE: The main objective of this study was to report on the development of a mobile interface concept to support the management of medication information. METHODS: The human-centered design (UCD) process was chosen...
March 5, 2018: Informatics for Health & Social Care
Guido Giunti, Vasiliki Mylonopoulou, Octavio Rivera Romero
BACKGROUND: Multiple sclerosis (MS) is one of the world's most common neurologic disorders. Fatigue is one of most common symptoms that persons with MS experience, having significant impact on their quality of life and limiting their activity levels. Self-management strategies are used to support them in the care of their health. Mobile health (mHealth) solutions are a way to offer persons with chronic conditions tools to successfully manage their symptoms and problems. Gamification is a current trend among mHealth apps used to create engaging user experiences and is suggested to be effective for behavioral change...
March 2, 2018: JMIR MHealth and UHealth
Alexandra Nagy, Aparna Bhaduri, Nahid Shahmarvand, Jahanbanoo Shahryari, James L Zehnder, Roger A Warnke, Tariq Mughal, Siraj Ali, Robert S Ohgami
Castleman disease (CD) is a rare lymphoproliferative disorder subclassified as unicentric CD (UCD) or multicentric CD (MCD) based on clinical features and the distribution of enlarged lymph nodes with characteristic histopathology. MCD can be further subtyped based on human herpes virus 8 (HHV8) infection into HHV8-associated MCD, HHV8- /idiopathic MCD (iMCD), and polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin change (POEMS)-associated MCD. In a subset of cases of UCD, an associated follicular dendritic cell sarcoma (FDCS) may be seen...
March 13, 2018: Blood Advances
Sofoklis Mitsos, Alexandros Stamatopoulos, Davide Patrini, Robert S George, David R Lawrence, Nikolaos Panagiotopoulos
INTRODUCTION: Castleman's disease is a rare benign lymphoproliferative disorder of unknown etiology. The disease occurs in two clinical forms with different prognoses, treatments and symptoms: a unicentric form (UCD), which is solitary, localized, and a multicentric form characterized by generalized lymphadenopathy and systemic symptoms. This article aims to review the current literature to consolidate the evidence surrounding the curative potential of surgical treatment to the unicentric type...
2018: Advances in Respiratory Medicine
Lichun Meng, Andreas Fix, Martin Wirth, Lasse Høgstedt, Peter Tidemand-Lichtenberg, Christian Pedersen, Peter John Rodrigo
We demonstrate a robust, compact, portable and efficient upconversion detector (UCD) for a differential absorption lidar (DIAL) system designed for range-resolved methane (CH4 ) atmospheric sensing. The UCD is built on an intracavity pump system that mixes a 1064 nm pump laser with the lidar backscatter signal at 1646 nm in a 25-mm long periodically poled lithium niobate crystal. The upconverted signal at 646 nm is detected by a photomultiplier tube (PMT). The UCD with a noise equivalent power around 127 fW/Hz1/2 outperforms a conventional InGaAs based avalanche photodetector when both are used for DIAL measurements...
February 19, 2018: Optics Express
Ramachandiran Nandhagopal, Fathiya Al-Murshedi, Mujahid Al-Busaidi, Amna Al-Busaidi
Primary hyperammonemic encephalopathy due to urea cycle disorders (UCD) typically manifests with episodic unresponsiveness and this clinical entity is not often included in the differential diagnosis of presumed non-convulsive status epilepticus (NCSE). However, this diagnostic consideration has therapeutic implications. In this report, we document the therapeutic importance of elucidating the specific cause of hyperammonemic encephalopathy that closely mimicked NCSE through 2 unique illustrative cases.
January 2018: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
Jin-Peng Jiang, Xiao-Fei Shen, Jun-Feng Du, Wen-Xian Guan
The aim of the present study was to share the experience of a single institute in the diagnosis, use of accessory examinations and treatment strategies of Castleman's disease (CD). The present study analyzed 34 patients (13 males and 21 females) with CD who were hospitalized between January 2006 and September 2014. The patients were divided into two groups based on the anatomical distribution of the disease: Unicentric CD (UCD) and multicentric CD (MCD). Histological data was obtained from lymph node biopsies...
February 2018: Oncology Letters
Guido Giunti, Jan Kool, Octavio Rivera Romero, Enrique Dorronzoro Zubiete
BACKGROUND: Multiple sclerosis (MS) is one of the world's most common neurologic disorders, with symptoms such as fatigue, cognitive problems, and issues with mobility. Evidence suggests that physical activity (PA) helps people with MS reduce fatigue and improve quality of life. The use of mobile technologies for health has grown in recent years with little involvement from relevant stakeholders. User-centered design (UCD) is a design philosophy with the goal of creating solutions specific to the needs and tasks of the intended users...
February 9, 2018: JMIR MHealth and UHealth
Ajanta Barh, Peter Tidemand-Lichtenberg, Christian Pedersen
Low noise detection with state-of-the-art mid-infrared (MIR) detectors (e.g., PbS, PbSe, InSb, HgCdTe) is a primary challenge owing to the intrinsic thermal background radiation of the low bandgap detector material itself. However, researchers have employed frequency upconversion based detectors (UCD), operable at room temperature, as a promising alternative to traditional direct detection schemes. UCD allows for the use of a low noise silicon-CCD/camera to improve the SNR. Using UCD, the noise contributions from the nonlinear material itself should be evaluated in order to estimate the limits of the noise-equivalent power of an UCD system...
February 5, 2018: Optics Express
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