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Federica Porcaro, Lucia Caminiti, Giuseppe Crisafulli, Francesco Guglielmo, Giovanni Battista Pajno
Children who are highly sensitive to milk may also have severe allergic reactions after exposure to cow's milk proteins(CMP) through a different administration route than the oral one. We describe the case of a 16-year-old Caucasian boy with a clinical history of persistent cow's milk allergy (CMA), who developed one episode of anaphylaxis following cutaneous application of a bovine colostrum containing cream to a surgical wound. UniCAP testing showed a significant elevation in specific IgE antibodies to whey milk proteins...
March 12, 2018: Asian Pacific Journal of Allergy and Immunology
Kathryn E Drzewiecki, Juilee N Malavade, Ijaz Ahmed, Christopher J Lowe, David I Shreiber
As a biomaterial, collagen has been used throughout tissue engineering and regenerative medicine. Collagen is native to the body, is highly biocompatible, and naturally promotes cell adhesion and regeneration. However, collagen fibers and the inherent weak mechanical properties of collagen hydrogels interfere with further development of collagen as a bio-ink. Herein, we demonstrate the use of a modified type-I collagen, collagen methacrylamide (CMA), as a fibril-forming bio-ink for free-form fabrication of scaffolds...
December 2017: Technology
Hema Singh, Pradeep Tiwari, Vijay Bhavi, Praveen Singh Chaudhary, Prashanth Suravajhala, M Krishna Mohan, Sandeep Kumar Mathur
Background: Human height is a classic polygenic trait and currently available data explains only 10% of the phenotypic variation in height. Almost 60%-80% of the children coming to pediatric and endocrinology outpatient department for the evaluation of short stature are still labeled as idiopathic. Objectives: The aim of this study is to identify various chromosomal alterations causing idiopathic short stature (ISS) and short stature with dysmorphic features not pertaining to known genetic syndromes...
January 2018: Indian Journal of Endocrinology and Metabolism
Xiaopeng Guo, Lu Gao, Xiaodong Shi, Hailong Li, Qiang Wang, Zihao Wang, Wei Chen, Bing Xing
Objective: To investigate the preoperative body composition, metabolic characteristics, and postoperative changes in patients with active acromegaly and analyze the effects of gender and age. Methods: We included 36 patients with untreated acromegaly and 37 patients with nonfunctional pituitary adenomas. Adipose tissue (AT), the visceral fat index (VFI), sclerotin, protein, skeletal muscle, total body water (TBW), intracellular water (ICW), and extracellular water (ECW) were measured using bioelectrical impedance analysis (BIA)...
2018: International Journal of Endocrinology
Amihood Singer, Idit Maya, Arie Koifman, Nadra Nasser Samra, Hagit N Baris, Tzipora Falik-Zaccai, Shay Ben Shachar, Lena Sagi-Dain
INTRODUCTION: Fetal echogenic bowel is a frequent sonographic finding, demonstrated in about 1% of pregnancies. The advised evaluation of fetal echogenic bowel includes maternal serology, genetic testing for cystic fibrosis, detailed sonographic anatomic survey, and invasive prenatal testing for fetal chromosomal aberrations. The objective of our study was to evaluate the risk for clinically significant chromosomal microarray analysis (CMA) findings in pregnancies with isolated echogenic bowel...
March 6, 2018: Early Human Development
Aziz Rezapour, Saeed Bagheri Faradonbeh, Vahid Alipour, Mani Yusefvand
BACKGROUND: Cardiomyopathies is a group of heart diseases that directly affects the heart muscle, and their causes is not just high blood pressure, congenital and pericardial diseases but ischemic cardiomyopathy disease are also caused by vascular disorders, and to confirm the diagnosis, angiography is required. There are several methods for treating and controlling ischemic cardiomyopathy in world health systems and especially in the Iran health system, which include medical treatment, percutaneous coronary intervention (PCI), and coronary artery bypass graft (CABG)...
March 2018: Medicine (Baltimore)
Jessica Baker, Cheryl Shuman, David Chitayat, Syed Wasim, Nan Okun, Johannes Keunen, Renee Hofstedter, Rachel Silver
The introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i...
March 7, 2018: Journal of Genetic Counseling
Ran Svirsky, Dana Brabbing-Goldstein, Uri Rozovski, Livia Kapusta, Adi Reches, Yuval Yaron
INTRODUCTION: Our objective was an evaluation of the incidence of chromosomal aberration (both microscopic and submicroscopic) and the clinical outcome of fetuses with isolated muscular ventricular septal defect. MATERIAL AND METHODS: The study included 40 pregnant women whose fetuses were diagnosed with isolated muscular ventricular septal defect (mVSD). Of these, 30 patients underwent amniocentesis and 10 declined. All samples were tested by chromosomal microarray analysis (CMA)...
March 6, 2018: Journal of Maternal-fetal & Neonatal Medicine
Ulyana Boyarskikh, Sergey Pintus, Nikita Mandrik, Daria Stelmashenko, Ilya Kiselev, Ivan Evshin, Ruslan Sharipov, Philip Stegmaier, Fedor Kolpakov, Maxim Filipenko, Alexander Kel
BACKGROUND: Small molecule Nutlin-3 reactivates p53 in cancer cells by interacting with the complex between p53 and its repressor Mdm-2 and causing an increase in cancer cell apoptosis. Therefore, Nutlin-3 has potent anticancer properties. Clinical and experimental studies of Nutlin-3 showed that some cancer cells may lose sensitivity to this compound. Here we analyze possible mechanisms for insensitivity of cancer cells to Nutlin-3. METHODS: We applied upstream analysis approach implemented in geneXplain platform ( genexplain...
February 13, 2018: BMC Medical Genomics
Shiri Shkedi-Rafid, Yael Hashiloni-Dolev
Advanced genomic tests in pregnancy, such as chromosomal microarray analysis (CMA), provide higher detection rates yet often produce probabilistic and uncertain information. This study aimed to understand how the most knowledgeable patients, i.e., pregnant genetic counselors, act in their own pregnancies, thereby gaining insight into the impact of patients' knowledge on the diagnostic process. Seventeen interviews were conducted with Israeli genetic counselors, either pregnant or up to 2 years post-pregnancy...
March 3, 2018: Journal of Genetic Counseling
Christine M Armour, Shelley Danielle Dougan, Jo-Ann Brock, Radha Chari, Bernie N Chodirker, Isabelle DeBie, Jane A Evans, William T Gibson, Elena Kolomietz, Tanya N Nelson, Frédérique Tihy, Mary Ann Thomas, Dimitri J Stavropoulos
BACKGROUND: The aim of this guideline is to provide updated recommendations for Canadian genetic counsellors, medical geneticists, maternal fetal medicine specialists, clinical laboratory geneticists and other practitioners regarding the use of chromosomal microarray analysis (CMA) for prenatal diagnosis. This guideline replaces the 2011 Society of Obstetricians and Gynaecologists of Canada (SOGC)-Canadian College of Medical Geneticists (CCMG) Joint Technical Update. METHODS: A multidisciplinary group consisting of medical geneticists, genetic counsellors, maternal fetal medicine specialists and clinical laboratory geneticists was assembled to review existing literature and guidelines for use of CMA in prenatal care and to make recommendations relevant to the Canadian context...
March 1, 2018: Journal of Medical Genetics
Shamini Vijayakumaran, Dean L Pountney
Protein homeostasis is essential for the wellbeing of several cellular systems. Post-translational modifications (PTM) coordinate various pathways in response to abnormal aggregation of proteins in neurodegenerative disease states. In the presence of accumulating misfolded proteins and toxic aggregates, the small ubiquitin-like modifier (SUMO) is associated with various substrates, including chaperones and other recruited factors, for refolding and for clearance via proteolytic systems, such as the ubiquitin-proteasome pathway (UPS), chaperone-mediated autophagy (CMA) and macroautophagy...
February 25, 2018: Neurotoxicology
Attia Anwar, Provvidenza Maria Abruzzo, Sabah Pasha, Kashif Rajpoot, Alessandra Bolotta, Alessandro Ghezzo, Marina Marini, Annio Posar, Paola Visconti, Paul J Thornalley, Naila Rabbani
Background: Clinical chemistry tests for autism spectrum disorder (ASD) are currently unavailable. The aim of this study was to explore the diagnostic utility of proteotoxic biomarkers in plasma and urine, plasma protein glycation, oxidation, and nitration adducts, and related glycated, oxidized, and nitrated amino acids (free adducts), for the clinical diagnosis of ASD. Methods: Thirty-eight children with ASD (29 male, 9 female; age 7.6 ± 2.0 years) and 31 age-matched healthy controls (23 males, 8 females; 8...
2018: Molecular Autism
Daisuke Komatsu, Akira Yamada, Takeshi Suzuki, Masahiro Kurozumi, Yasunari Fujinaga, Kazuhiko Ueda, Masumi Kadoya
AIM: To verify the utility of the 2-in-1-out-compartment model analysis (CMA) of intravenous contrast-enhanced dynamic computed tomography (IV-CT) for evaluating hepatic arterial and portal venous flow using intra-arterial contrast-enhanced CT (IA-CT). METHODS: We retrospectively evaluated 49 consecutive patients who underwent IV-CT and were radiologically or histologically diagnosed as having hepatic malignant lesion (51 classical hepatocellular carcinomas [HCC], 4 early HCC, 3 cholangiolocellular carcinomas, 1 mixed HCC, 3 cholangiocellular carcinomas)...
February 23, 2018: Hepatology Research: the Official Journal of the Japan Society of Hepatology
Alyson E Hanish, Marlene Z Cohen, Lois J Starr
PURPOSE: Advances in genomic technology and research have led to genetic testing being recognized as an essential component of the etiological workup for children with autism spectrum disorder (ASD). Chromosomal microarray analysis (CMA) is a first-tier diagnostic test for patients with ASD, as recommended by the American College of Medical Genetics and other professional societies. An accurate underlying medical diagnosis for ASD has many potential benefits, including appropriate medical management, detailed therapeutic recommendations, and accurate recurrence risk...
February 23, 2018: Journal for Specialists in Pediatric Nursing: JSPN
Bowen Liu, Tianjiao Wang, Huawei Wang, Lu Zhang, Feifei Xu, Runping Fang, Leilei Li, Xiaoli Cai, Yue Wu, Weiying Zhang, Lihong Ye
BACKGROUND: Resistance to tamoxifen (TAM) frequently occurs in the treatment of estrogen receptor positive (ER+) breast cancer. Accumulating evidences indicate that transcription factor HOXB13 is of great significance in TAM resistance. However, the regulation of HOXB13 in TAM-resistant breast cancer remains largely unexplored. Here, we were interested in the potential effect of HBXIP, an oncoprotein involved in the acceleration of cancer progression, on the modulation of HOXB13 in TAM resistance of breast cancer...
February 23, 2018: Journal of Hematology & Oncology
Ping Dong, Jing-Jing Feng, Dong-Yong Yan, Yu-Jing Lyu, Xiu Xu
AIM: To assess nutrient intake, growth and nutritional status of infants with cow's milk allergy (CMA) who follow a therapeutic elimination diet since the first few months of life. METHODS: Sixty infants younger than 4 months of age with challenge-proven CMA and 60 healthy age-matched children were investigated. Anthropometric and body composition (BC) were assessed up to 24 months. Dietary intake was recorded by the parents for 3 consecutive days before visits at 6, 12, 18 and 24 months...
February 20, 2018: Acta Paediatrica
Yi Zhang, Linhuan Huang, Xuan Huang, Zhiming He, Shaobin Lin, Ye Wang, Lin Li, Yanmin Luo, Qun Fang
OBJECTIVE: To investigate the types of cardiovascular anomalies and the results of invasive prenatal diagnosis in twin fetuses. METHODS: A total of 298 fetuses in 149 twin pairs were enrolled, in which 1 or 2 fetuses of a twin pair had cardiovascular anomalies. Prenatal diagnosis was performed on 290 fetuses of 149 twin pairs, including 150 monochorionic diamniotic (MCDA) fetuses (79 pairs) and 140 dichorionic diamniotic (DCDA) fetuses (70 pairs). G-banding karyotyping and/or chromosomal microarray analysis (CMA) were performed...
February 19, 2018: Prenatal Diagnosis
Robert Häsler, Christian Kautz, Ateequr Rehman, Rainer Podschun, Volker Gassling, Pius Brzoska, Jon Sherlock, Jan-Thorsten Gräsner, Gesine Hoppenstedt, Sabine Schubert, Astrid Ferlinz, Wolfgang Lieb, Matthias Laudes, Femke-Anouska Heinsen, Jens Scholz, Dag Harmsen, Andre Franke, Swantje Eisend, Thomas Kunze, Helmut Fickenscher, Stephan Ott, Philip Rosenstiel, Stefan Schreiber
BACKGROUND: Multidrug-resistant bacteria represent a substantial global burden for human health, potentially fuelled by migration waves: in 2015, 476,649 refugees applied for asylum in Germany mostly as a result of the Syrian crisis. In Arabic countries, multiresistant bacteria cause significant problems for healthcare systems. Currently, no data exist describing antibiotic resistances in healthy refugees. Here, we assess the microbial landscape and presence of antibiotic resistance genes (ARGs) in refugees and German controls...
February 20, 2018: Microbiome
Andrea C Klaver, Mary P Coffey, Jan O Aasly, David A Loeffler
Lysosome-associated membrane glycoprotein 2 (lamp2) plays critical roles in chaperone-mediated autophagy (CMA) and macroautophagy. Its isoform lamp2a is decreased in Parkinson's disease (PD) substantia nigra. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most known common cause of late-onset PD; although LRRK2 is thought to regulate macroautophagy, the influence of LRRK2 mutations on lamp2 concentrations in the CNS is unknown. To examine this issue we compared lamp2 levels in cerebrospinal fluid (CSF) between sporadic PD (sPD) patients (n = 31), LRRK2 PD patients (n = 20), and healthy control subjects with or without LRRK2 mutations (LRRK2 CTL = 30, CTL = 27)...
March 15, 2018: Brain Research
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