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https://www.readbyqxmd.com/read/28802630/infantile-hypophosphatasia-combined-with-vitamin-b6-responsive-seizures-and-reticular-formation-lesions-on-magnetic-resonance-imaging-a-case-report
#1
Mitsuharu Fukazawa, Junichiro Tezuka, Momoko Sasazuki, Natsuko Masumoto, Haruhisa Baba, Takehiko Doi, Yasushi Tsutsumi, Yuji Mizuno, Futoshi Mihara, Hideki Nakayama
BACKGROUND: Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit various presentations depending on their age at onset, such as infantile HPP combined with vitamin B6-responsive seizures. CASE PRESENTATION: A newborn with infantile HPP presented with tonic convulsions from day 5 after birth and received intravenous vitamin B6 (10mg/kg/day pyridoxal phosphate)...
August 9, 2017: Brain & Development
https://www.readbyqxmd.com/read/28798909/analysis-of-urine-composition-in-type-ii-diabetic-mice-after-intervention-therapy-using-holothurian-polypeptides
#2
Yanyan Li, Jiajie Xu, Xiurong Su
Hydrolysates and peptide fractions (PF) obtained from sea cucumber with commercial enzyme were studied on the hyperglycemic and renal protective effects on db/db rats using urine metabolomics. Compared with the control group the polypeptides from the two species could significantly reduce the urine glucose and urea. We also tried to address the compositions of highly expressed urinary proteins using a proteomics approach. They were serum albumins, AMBP proteins, negative trypsin, elastase, and urinary protein, GAPDH, a receptor of urokinase-type plasminogen activator (uPAR), and Ig kappa chain C region...
2017: Frontiers in Chemistry
https://www.readbyqxmd.com/read/28766503/could-biochemistry-lab-alert-for-low-alkaline-phosphatase-prompt-diagnosis-of-hypophosphatasia
#3
Asma Deeb, Elfatih Abubaker
OBJECTIVE: Hypophosphatasia (HPP) is an inborn error of metabolism with significant morbidity and mortality. Its presentation is non-specific leading to delay or missed diagnosis. Low ALP is a diagnostic test. Unlike high ALP, low level is commonly un-flagged by laboratories as abnormal. A new treatment has proved to be effective in HPP. We aim to study frequency of flagging of low ALP level by laboratory and the clinical manifestations of patients presenting with low ALP for a possible diagnosis of HPP...
August 2, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28752263/photobiomodulation-therapy-by-nir-laser-in-persistent-pain-an-analytical-study-in-the-rat
#4
Laura Micheli, Lorenzo Di Cesare Mannelli, Elena Lucarini, Francesca Cialdai, Leonardo Vignali, Carla Ghelardini, Monica Monici
Over the past three decades, physicians have used laser sources for the management of different pain conditions obtaining controversial results that call for further investigations. In order to evaluate the pain relieving possibilities of photobiomodulation therapy (PBMT), we tested two near infrared (NIR) laser systems, with different power, against various kinds of persistent hyperalgesia animal models. In rats, articular pain was reproduced by the intra-articular injection of sodium monoiodoacetate (MIA) and complete Freund's adjuvant (CFA), while compressive neuropathy was modelled by the chronic constriction injury of the sciatic nerve (CCI)...
July 28, 2017: Lasers in Medical Science
https://www.readbyqxmd.com/read/28748194/recurrent-metatarsal-fractures-in-postmenopausal-woman-with-low-serum-alkaline-phosphatase-a-rare-diagnosis-not-to-miss
#5
Umair Iqbal, Hafsa Anwar, Ahmad Chaudhary, Madiha Alvi, Amy Freeth
Hypophosphatasia (HPP) is a rare inborn error of metabolism due to a loss-of-function mutation in the gene for tissue nonspecific isoenzyme of alkaline phosphatase (ALP) that results in low levels of ALP. The clinical presentation of HPP is variable and in adults can easily be misdiagnosed as other forms of osteomalacia. We present a case of a 53-year-old Caucasian female who was evaluated for recurrent metatarsal fractures. She reported her first metatarsal fracture at age 21, and since then had at least 8 more metatarsal fractures over her lifetime, most without injury other than weight bearing...
July 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28731215/hypophosphatasia-in-adults-clinical-assessment-and-treatment-considerations
#6
Jay R Shapiro, E Michael Lewiecki
Hypophosphatasia (HPP) is a rare inherited disorder of bone affecting approximately 500-600 known individuals in the US. HPP is due to mutations involving the gene for tissue non-specific alkaline phosphatase. Five clinical types of HPP are recognized. The clinical presentation of HPP varies from devastating prenatal intrauterine disease to mild manifestations in adulthood. In adults, main clinical involvement includes early loss of primary or secondary teeth, osteoporosis, bone pain, chondrocalcinosis, and fractures...
July 21, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28727343/-hypophosphatasia
#7
Eleni Tsiantouli, Andrea Trombetti, Serge Ferrari
Hypophosphatasia (HPP) is an inborn metabolic bone disorder caused by loss-of-function mutations in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP). The adult form can be mistaken with common osteoporosis and/or present recurrent metatarsal fractures, skeletal and muscular pain. Subtrochanteric femoral pseudofractures resembling bisphosphonate-associated atypical femoral fractures can also be present, and Bps are therefore contraindicated in HPP. Early tooth loss and renal calcifications can orient towards the diagnosis...
April 19, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28691027/hand-hygiene-practices-and-microbial-investigation-of-hand-contact-swab-among-physiotherapists-in-an-ebola-endemic-region-implications-for-public-health
#8
S Ibeneme, V Maduako, G C Ibeneme, A Ezuma, T U Ettu, N F Onyemelukwe, D Limaye, G Fortwengel
BACKGROUND: Hand hygiene practices (HHP), as a critical component of infection prevention/control, were investigated among physiotherapists in an Ebola endemic region. METHOD: A standardized instrument was administered to 44 randomly selected physiotherapists (23 males and 21 females), from three tertiary hospitals in Enugu, Nigeria. Fifteen participants (aged 22-59 years) participated in focus group discussions (FGDs) and comprised 19 participants in a subsequent laboratory study...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28688041/the-brand-s-preach-survey-a-capacity-assessment-tool-for-predicting-readiness-to-engage-african-american-churches-in-health
#9
Dorine J Brand, Reginald J Alston
The purpose of this study was to develop the Brand's PREACH (Predicting Readiness to Engage African American Churches in Health) Survey, a capacity assessment tool based on the Brand's PREACH Model to predict the readiness of African American (AA) churches to engage in health promotion programming (HPP). The survey assessed church infrastructure (physical structure, personnel, funding, and cultural/social support), frequency of HPP and readiness to engage in HPP. The survey was administered to 108 AA churches in Illinois and North Carolina...
July 7, 2017: Journal of Religion and Health
https://www.readbyqxmd.com/read/28678474/methylcobalamin-dependent-radical-sam-c-methyltransferase-fom3-recognizes-cytidylyl-2-hydroxyethylphosphonate-and-catalyzes-the-nonstereoselective-c-methylation-in-fosfomycin-biosynthesis
#10
Shusuke Sato, Fumitaka Kudo, Seung-Young Kim, Tomohisa Kuzuyama, Tadashi Eguchi
A methylcobalamin (MeCbl)-dependent radical S-adenosyl-l-methionine (SAM) methyltransferase Fom3 was found to catalyze the C-methylation of cytidylyl-2-hydroxyethylphosphonate (HEP-CMP) to give cytidylyl-2-hydroxypropylphosphonate (HPP-CMP), although it was originally proposed to catalyze the C-methylation of 2-hydroxyethylphosphonate to give 2-hydroxypropylphosphonate in the biosynthesis of a unique C-P bond containing antibiotic fosfomycin in Streptomyces. Unexpectedly, the Fom3 reaction product from HEP-CMP was almost a 1:1 diastereomeric mixture of HPP-CMP, indicating that the C-methylation is not stereoselective...
July 18, 2017: Biochemistry
https://www.readbyqxmd.com/read/28663156/clinical-and-genetic-findings-of-turkish-hypophosphatasia-cases
#11
Halil Sağlam, Şahin Erdöl, Sevil Dorum
OBJECTIVE: Objective: Hypophosphatasia (HPP) is a rare, commonly unrecognized hereditary mineralization defect with a dramatically poor prognosis in severe cases. This study is the first to examine the detailed clinical and laboratory characteristics of patients with HPP and healthy carriers in Turkey. METHODS: The study data were obtained retrospectively from the files of 16 cases with HPP who were followed in our center from 2012 to 2016, including 12 children and 4 adults, and 10 healthy carriers...
June 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28649047/high-pressure-processing-improves-the-tenderness-and-quality-of-hot-boned-beef
#12
James D Morton, R Grant Pearson, Hannah Y-Y Lee, Stephanie Smithson, Susan L Mason, Roy Bickerstaffe
Strip loins from different grades of cattle were subjected to two levels of high pressure processing (HPP) within 1h of slaughter at a commercial meat processing plant and chilled for 1day before freezing. The physical and eating quality characteristics of longissimus thoracis (strip loin) steaks from HPP were compared to meat that was chill aged for 1 or 28days. HPP produced meat after 1day with 60% lower shear force and higher sensory eating quality scores than 1day chill aged meat. Extended chill storage for 28days produced steaks of similar tenderness to HPP meat...
June 16, 2017: Meat Science
https://www.readbyqxmd.com/read/28639825/sync-or-separate-no-compelling-evidence-for-unintentional-interpersonal-coordination-between-usain-bolt-and-tyson-gay-on-the-100-meter-world-record-race
#13
Frank Blikslager, Harjo J de Poel
In a recent observation article in Journal of Experimental Psychology: Human Perception and Performance (JEP:HPP; Varlet & Richardson, 2015) the 100-m sprint final of the World Championship in Athletics in Berlin of 2009 (i.e., the current world record race) was analyzed. That study reported occurrence of spontaneous, unintentional interpersonal synchronization between Usain Bolt and Tyson Gay, the respective winner and runner-up of that race. In the present commentary article, however, we argue that the results and conclusion of that study cannot be warranted because of methodological shortcomings...
July 2017: Journal of Experimental Psychology. Human Perception and Performance
https://www.readbyqxmd.com/read/28631803/a-gompertz-model-approach-to-microbial-inactivation-kinetics-by-high-pressure-processing-hpp-model-selection-and-experimental-validation
#14
Vinicio Serment-Moreno, Claudio Fuentes, José Antonio Torres, Jorge Welti-Chanes
A recently proposed Gompertz model (GMPZ) approach describing microbial inactivation kinetics by high-pressure processing (HPP) incorporated the initial microbial load (N0 ) and lower microbial quantification limit (Nlim ), and simplified the dynamic effects of come-up time (CUT). The inactivation of Listeria innocua in milk by HPP treatments at 300, 400, 500, and 600 MPa and pressure holding times (thold ) ≤10 min was determined experimentally to validate this model approach. Models based on exponential, logistic-exponential, and inverse functions were evaluated to describe the effect of pressure on the lag time (λ) and maximum inactivation rate (μmax ), whereas the asymptote difference (A) was fixed as A = log10 (N0 /Nlim )...
June 20, 2017: Journal of Food Science
https://www.readbyqxmd.com/read/28620007/von-hippel-lindau-and-hereditary-pheochromocytoma-paraganglioma-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#15
REVIEW
Surya P Rednam, Ayelet Erez, Harriet Druker, Katherine A Janeway, Junne Kamihara, Wendy K Kohlmann, Katherine L Nathanson, Lisa J States, Gail E Tomlinson, Anita Villani, Stephan D Voss, Joshua D Schiffman, Jonathan D Wasserman
Von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition syndrome that places affected individuals at risk for multiple tumors, which are predominantly benign and generally occur in the central nervous system or abdomen. Although the majority of tumors occur in adults, children and adolescents with the condition develop a significant proportion of vHL manifestations and are vulnerable to delayed tumor detection and their sequelae. Although multiple tumor screening paradigms are currently being utilized for patients with vHL, surveillance should be reassessed as the available relevant clinical information continues to expand...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28594572/effect-of-high-pressure-processing-on-human-noroviruses-in-laboratory-contaminated-oysters-by-bio-accumulation
#16
Saiki Imamura, Hiromi Kanezashi, Tomoko Goshima, Atsushi Suto, You Ueki, Naoko Sugawara, Hiroshi Ito, Bizhen Zou, Masashi Uema, Mamoru Noda, Keiko Akimoto
The contamination of oysters with human noroviruses poses a human health risk, since oysters are often consumed raw. In this study, human norovirus genogroup II was allowed to bio-accumulate in oysters, and then the effect of high-pressure processing (HPP) on human noroviruses in oysters was determined through a polymerase chain reaction (PCR)-based method with enzymatic pretreatment to distinguish infectious noroviruses. As a result, oysters could be artificially contaminated to a detectable level of norovirus genome by the reverse transcription-PCR...
June 8, 2017: Foodborne Pathogens and Disease
https://www.readbyqxmd.com/read/28578031/biophysical-evaluation-of-milk-clotting-enzymes-processed-by-high-pressure
#17
Bruno Ricardo de Castro Leite Júnior, Alline Artigiani Lima Tribst, Nicholas J Grant, Rickey Y Yada, Marcelo Cristianini
High pressure processing (HPP) is able to promote changes in enzymes structure. This study evaluated the effect of HP on the structural changes in milk-clotting enzymes processed under activation conditions for recombinant camel chymosin (212MPa/5min/10°C), calf rennet (280MPa/20min/25°C), bovine rennet (222MPa/5min/23°C), and porcine pepsin (50MPa/5min/20°C) and under inactivation conditions for all enzymes (600MPa/10min/25°C) including the protease from Rhizomucor miehei. In general, it was found that the HPP at activation conditions was able to increase the intrinsic fluorescence of samples with high pepsin concentration (porcine pepsin and bovine rennet), increase significantly the surface hydrophobicity and induce changes in secondary structure of all enzymes...
July 2017: Food Research International
https://www.readbyqxmd.com/read/28547134/clinical-radiographic-and-biochemical-characteristics-of-adult-hypophosphatasia
#18
T Schmidt, H Mussawy, T Rolvien, T Hawellek, J Hubert, W Rüther, M Amling, F Barvencik
In this study, we report on clinical, radiographic and biochemical characteristics of 38 patients with adult hypophosphatasia. High-resolution peripheral quantitative computed tomography showed alterations of bone microstructure in a subgroup of 14 patients. Pyridoxal-5-phosphate levels correlated with the occurrence of fractures and the number of symptoms. INTRODUCTION: Hypophosphatasia (HPP) is a rare disorder with a wide range of clinical manifestations. A reduced enzymatic activity of alkaline phosphatase (ALP) is the key marker of the disease, causing an accumulation of ALP substrates such as pyridoxal-5-phosphate (PLP)...
May 25, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28543090/association-of-pulse-pressure-with-left-ventricular-geometry-and-function-in-elderly-nonhypertensive-patients-with-diabetes-a-3d-speckle-tracking-echocardiography-study
#19
Qingqing Wang, Kaibin Tan, Hongmei Xia, Yunhua Gao
PURPOSE: The aims of this study were to investigate and compare the left ventricular (LV) geometry and function in elderly nonhypertensive type 2 diabetic patients with normal (NPP, <60 mm Hg) and with high (HPP, ≥60 mmHg) 24-hour pulse pressure, and to explore the independent predictors of LV strain values in these patients. METHODS: A total of 76 elderly nonhypertensive type 2 diabetic patients with normal (≥55%) LV ejection fraction (LVEF) were included, 36 of whom had HPP...
September 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28508355/neuroproteomics-studies-challenges-and-updates
#20
Naify Ramadan, Hussein Ghazale, Mohammad El-Sayyad, Mohamad El-Haress, Firas H Kobeissy
The Human Genome Project in 2003 has resulted in the complete sequence of ~99% of the human genome paving the road for the Human Proteome Project (HPP) assessing the full characterization of the translated protein map of the 20,300 protein-coding genes. Consequently, the emerging of the proteomics field has successfully been adopted as the method of choice for the proteome characterization. Proteomics is a term that is used to encompass multidisciplinary approaches combining different technologies that aim to study the entire spectrum of protein changes at a specific physiological condition...
2017: Methods in Molecular Biology
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