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https://www.readbyqxmd.com/read/28520780/towards-a-point-of-care-strip-test-to-diagnose-sickle-cell-anemia
#1
Meaghan Bond, Brady Hunt, Bailey Flynn, Petri Huhtinen, Russell Ware, Rebecca Richards-Kortum
A rapid test to identify patients with sickle cell disease could have important benefits in low-resource settings. Sickle cell anemia (SCA) affects about 300,000 newborns each year, the majority of whom are born in sub-Saharan Africa. Low-cost therapies are available to treat SCA, but most countries in sub-Saharan Africa lack robust neonatal screening programs needed to identify patients in need of treatment. To address this need, we developed and evaluated a competitive lateral flow assay that identifies patients with SCA (genotype HbSS) in 15 minutes using undiluted whole blood...
2017: PloS One
https://www.readbyqxmd.com/read/28507438/pulmonary-hypertension-in-nigerian-adults-with-sickle-cell-anemia
#2
Valentine N Amadi, Michael O Balogun, Norah O Akinola, Rasaaq A Adebayo, Anthony O Akintomide
BACKGROUND: Sickle cell anemia (SCA) is the commonest hemoglobinopathy and is associated with high morbidity and mortality. Pulmonary hypertension (PH) is reported to play a significant role in this regard. There is very limited literature on PH in SCA in Nigeria. OBJECTIVES: The objectives of this study were to determine the prevalence of Doppler-derived PH in SCA, assess its influence on exercise capacity, and determine the correlates and predictors of measures of estimated pulmonary pressure...
2017: Vascular Health and Risk Management
https://www.readbyqxmd.com/read/28497434/thalassemia-and-hemoglobinopathies-in-an-ethnic-minority-group-in-central-vietnam-implications-to-health-burden-and-relationship-between-two-ethnic-minority-groups
#3
Nga Thi Nguyen, Kanokwan Sanchaisuriya, Pattara Sanchaisuriya, Hoa Van Nguyen, Hoa Thi Thuy Phan, Goonnapa Fucharoen, Supan Fucharoen
Thalassemia is a genetic condition that can result in long and expensive treatments, and severe thalassemia may lead to death if left untreated. Couples contributing two genes for thalassemia place their children at particular risk for severe thalassemia. Gene frequency of thalassemia varies in Vietnam, but presents remarkably high levels among some ethnic minority groups. Limited information about thalassemia frequency makes prevention and control of thalassemia difficult. This study aimed to determine gene frequency of certain types of thalassemia among 390 women of reproductive age of the Ta-Oi ethnic minority...
May 11, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28489923/differences-of-microparticle-patterns-between-sickle-cell-anemia-and-hemoglobin-sc-patients
#4
Yohann Garnier, Séverine Ferdinand, Maryse Etienne-Julan, Gisèle Elana, Marie Petras, Lydia Doumdo, Benoit Tressières, Marie-Laure Lalanne-Mistrih, Marie-Dominique Hardy-Dessources, Philippe Connes, Marc Romana
Sickle cell anemia (SCA) and hemoglobin SC (HbSC) disease are the two most common forms of sickle cell disease (SCD), a frequent hemoglobinopathy which exhibits a highly variable clinical course. Although high levels of microparticles (MPs) have been consistently reported in SCA and evidence of their harmful impact on the SCA complication occurrences have been provided, no data on MP pattern in HbSC patients has been reported so far. In this study, we determined and compared the MP patterns of 84 HbSC and 96 SCA children, all at steady-state, using flow cytometry...
2017: PloS One
https://www.readbyqxmd.com/read/28483223/temporal-bone-extramedullary-hematopoiesis-as-a-causeof-pediatric-bilateral-conductive-hearing-loss-case-report-and-review-of-the-literature
#5
Alexander Lanigan, M Taylor Fordham
Extramedullary hematopoiesis occurs in children with hemoglobinopathy and chronic anemia. The liver and spleen are often affected first, but other foci can develop to support erythrocyte demand. We report a case of a nine-year-old with beta thalassemia and temporal bone extramedullary hematopoiesis causing ossicular fixation and bilateral conductive hearing loss. There is only one case in the literature describing this phenomenon in pediatric patients, and this is the first case report of bilateral hearing loss from this physiologic phenomenon...
June 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28475397/complex-interaction-of-hb-q-thailand-with-%C3%AE-0-and-%C3%AE-0-thalassemia-in-a-chinese-family
#6
Sheng He, Qian Qin, Li Lin, Qiuli Chen, Shang Yi, Honhwei Wei, Juan Du, Chenguang Zheng, Xiaoxia Qiu, Biyan Chen
Hb Q-Thailand [α74(EF3)Asp→His (α1); HBA1: c.223 G>C] is an abnormal hemoglobin (Hb), variant found mainly in China and Southeast Asian countries. The association of the α(Q)-Thailand allele with other globin gene disorders has important implications in diagnosis. Here, we report a hitherto undescribed condition of patients with a double heterozygosity for Hb Q-Thailand with α(0)-thalassemia (α(0)-thal) and in combination with β(0)-thalassemia (β(0)-thal) in a Chinese family. Our study will provide some clinical manifestations, laboratory diagnosis and genetic counseling for complex hemoglobinopathies...
May 5, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28471198/-can-we-observe-ethnic-difference-in-basic-blood-tests-single-institution-data-from-cancer-prevention-programme-in-the-czech-republic
#7
M Řiháček, D Valík, R Vyzula, L Zdražilová Dubská
BACKGROUND: Laboratory tests are standard part of a routine check-up of current medical status and an important tool in diagnostic workup, in planning or evaluation of treatment, and disease monitoring. To reduce misdiagnosis, accurate reference intervals reflecting age, sex, ethnicity and other relevant clinical parameters must be established. We aimed to explore ethnic difference in basic blood parameters relevant for the Czech Republic. PATIENTS AND METHODS: The study was performed analyzing blood tests from 13,126 individuals in cancer prevention program...
2017: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/28449196/double-trouble-complement-mediated-thrombotic-microangiopathy-in-patients-with-hemoglobinopathies-after-stem-cell-transplantation
#8
Sonata Jodele
No abstract text is available yet for this article.
April 27, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28437292/use-of-electronic-consultation-system-to-improve-access-to-care-in-pediatric-hematology-oncology
#9
Donna L Johnston, Kimmo Murto, Julia Kurzawa, Clare Liddy, Erin Keely, Lillian Lai
BACKGROUND: Electronic consultations (eConsult) allow for communication between primary care providers and specialists in an asynchronous manner. This study examined provider satisfaction, topics of interest, and efficiency of eConsult in pediatric hematology/oncology in Ottawa, Canada. METHODS: We conducted a cross-sectional assessment of all eConsult cases directed to pediatric hematology/oncology specialists using the Champlain BASE (Building Access to Specialists through eConsultation) eConsult service from June 1, 2014 to May 31, 2016...
April 21, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28435037/therapeutic-strategies-in-sickle-cell-anemia-the-past-present-and-future
#10
REVIEW
Queenie Fernandes
Sickle Cell Anemia (SCA) was one of the first hemoglobinopathies to be discovered. It is distinguished by the mutation-induced expression of a sickle cell variant of hemoglobin (HbS) that triggers erythrocytes to take a characteristic sickled conformation. The complex physiopathology of the disease and its associated clinical complications has initiated multi-disciplinary research within its field. This review attempts to lay emphasis on the evolution, current standpoint and future scope of therapeutic strategies in SCA...
June 1, 2017: Life Sciences
https://www.readbyqxmd.com/read/28433448/anemia-complicating-type-2-diabetes-prevalence-risk-factors-and-prognosis
#11
Richard Gauci, Michael Hunter, David G Bruce, Wendy A Davis, Timothy M E Davis
AIMS: To determine the prevalence, risk factors and prognosis of anemia in representative community-based patients with type 2 diabetes. METHODS: Data from the Fremantle Diabetes Study Phase II (FDS2; n=1551, mean age 65.7years, 51.9% males) and Busselton Diabetes Study (BDS; n=186, mean age 70.2years, 50.0% males) cohorts, and from 186 matched BDS participants without diabetes, were analyzed. The prevalence of anemia (hemoglobin ≤130g/L males, ≤120g/L females) was determined in each sample...
April 6, 2017: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/28413532/spontaneous-extradural-and-subgaleal-hematoma-a-rare-neurosurgical-crisis-of-sickle-cell-disease
#12
Sudhansu S Mishra, Satya B Senapati, Amiya K Gouda, Sanjay K Behera, Ashis Patnaik
Extradural hematoma (EDH) in absence of trauma is a rare entity with only few cases reported in literature. The various causes reported include: Vascular malformation of dura, coagulopathies, sinus infection, middle ear or orbital infection, and tumor. Occurrence of spontaneous EDH as a complication of sickle cell disease is even much rarer. We report a case with sickle cell disease who presented with spontaneous extradural and subgaleal hematomas following an episode of vaso-oclusive crisis. He was managed successfully with surgery...
January 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28409222/incidental-splenic-nodules-found-on-mr-imaging-done-for-assessment-of-iron-overload-in-children
#13
Rayan A Ahyad, Christopher Z Lam, Omid Shearkhani, Oscar M Navarro
BACKGROUND: MR imaging is used to assess iron overload in patients with hemoglobinopathies and in those who have undergone multiple blood transfusions. Sometimes splenic nodules are found incidentally on these examinations and this may cause diagnostic uncertainty. OBJECTIVE: To determine the prevalence, imaging characteristics and evolution of splenic nodules found on MR imaging for iron overload evaluation. MATERIALS AND METHODS: Retrospective review of all MR imaging examinations performed for iron overload assessment from 2005 to 2015 in a tertiary pediatric hospital...
April 13, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28405543/imaging-of-renal-medullary-carcinoma
#14
REVIEW
Federico Greco, Eliodoro Faiella, Domiziana Santucci, Carlo Augusto Mallio, Marco Nezzo, Carlo Cosimo Quattrocchi, Bruno Beomonte Zobel, Rosario Francesco Grasso
Renal medullary carcinoma (RMC) is a rare, highly aggressive tumor recognized as an independent pathological entity. African-descent adolescents and young adults with sickle cell hemoglobinopathy are the most affected groups. This rare subtype of renal cell carcinoma has its own morphogenetic and pathological characteristics. The major clinical manifestations include gross hematuria, abdominal or flank pain, and weight loss. The prognosis is very poor, with 95% of cases diagnosed at an advanced stage of the disease...
2017: Journal of Kidney Cancer and VHL
https://www.readbyqxmd.com/read/28404539/a-national-registry-of-thalassemia-in-turkey-demographic-and-disease-characteristics-of-patients-achievements-and-challenges-in-prevention
#15
Yeşim Aydınok, Yeşim Oymak, Berna Atabay, Gönül Aydoğan, Akif Yeşilipek, Selma Ünal, Yurdanur Kılınç, Banu Oflaz, Mehmet Akın, Canan Vergin, Melike Sezgin Evim, Ümran Çalışkan, Şule Ünal, Ali Bay, Elif Kazancı, Dilber Talia İleri, Didem Atay, Türkan Patıroğlu, Selda Kahraman, Murat Söker, Mediha Akcan, Aydan Akdeniz, Mustafa Büyükavcı, Güçhan Alanoğlu, Özcan Bör, Nur Soyer, Nihal Özdemir Karadaş, Ezgi Uysalol, Meral Türker, Arzu Akçay, Süheyla Ocak, Adalet Meral Güneş, Hüseyin Tokgöz, Zümrüt Uysal, Naci Tiftik, Zeynep Karakaş
Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate demographic and disease characteristics of patients, and assessed the efficacy of hemoglobinopathy control program (HCP) over 10 years in Turkey. A total of 2046 patients from 27 Thalassemia Centers were registered in which 1988 were eligible for analysis. This cohort mainly comprised patients with β-thalassemia major (n=1658, 83.4%) and intermedia (n=215, 10.8%). The majority of patients were accumulated into the costal areas of Turkey...
April 13, 2017: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/28398821/redox-chemistry-of-hemoglobin-associated-disorders
#16
Leif Bulow, Abdu I Alayash
This Forum addresses oxidative reactions of hemoglobin (Hb) and explores the underlying mechanisms of some of these reactions that contribute to the pathophysiology associated with hemolytic anemia and Hb-based oxygen therapeutics. A special focus of this Forum is on the understanding of naturally occurring mutations in human Hb and how these mutations were influenced overtime by variety of oxidative stresses. What emerges from these contributions is that some hemoglobinopathies involve mutant Hb that resists oxidative challenges, whereas the majority often result in circulatory disorder...
May 10, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28388605/refining-strategies-to-translate-genome-editing-to-the-clinic
#17
REVIEW
Tatjana I Cornu, Claudio Mussolino, Toni Cathomen
Recent progress in developing programmable nucleases, such as zinc-finger nucleases, transcription activator-like effector nucleases (TALENs) and clustered regularly interspaced short palindromic repeat (CRISPR)-Cas nucleases, have paved the way for gene editing to enter clinical practice. This translation is a result of combining high nuclease activity with high specificity and successfully applying this technology in various preclinical disease models, including infectious disease, primary immunodeficiencies, hemoglobinopathies, hemophilia and muscular dystrophy...
April 3, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28384795/child-and-adolescent-health-from-1990-to-2015-findings-from-the-global-burden-of-diseases-injuries-and-risk-factors-2015-study
#18
Nicholas Kassebaum, Hmwe Hmwe Kyu, Leo Zoeckler, Helen Elizabeth Olsen, Katie Thomas, Christine Pinho, Zulfiqar A Bhutta, Lalit Dandona, Alize Ferrari, Tsegaye Tewelde Ghiwot, Simon I Hay, Yohannes Kinfu, Xiaofeng Liang, Alan Lopez, Deborah Carvalho Malta, Ali H Mokdad, Mohsen Naghavi, George C Patton, Joshua Salomon, Benn Sartorius, Roman Topor-Madry, Stein Emil Vollset, Andrea Werdecker, Harvey A Whiteford, Kalkidan Hasen Abate, Kaja Abbas, Solomon Abreha Damtew, Muktar Beshir Ahmed, Nadia Akseer, Rajaa Al-Raddadi, Mulubirhan Assefa Alemayohu, Khalid Altirkawi, Amanuel Alemu Abajobir, Azmeraw T Amare, Carl A T Antonio, Johan Arnlov, Al Artaman, Hamid Asayesh, Euripide Frinel G Arthur Avokpaho, Ashish Awasthi, Beatriz Paulina Ayala Quintanilla, Umar Bacha, Dimtsu Balem, Aleksandra Barac, Till Winfried Bärnighausen, Estifanos Baye, Neeraj Bedi, Isabela M Bensenor, Adugnaw Berhane, Eduardo Bernabe, Oscar Alberto Bernal, Addisu Shunu Beyene, Sibhatu Biadgilign, Boris Bikbov, Cheryl Anne Boyce, Alexandra Brazinova, Gessessew Bugssa Hailu, Austin Carter, Carlos A Castañeda-Orjuela, Ferrán Catalá-López, Fiona J Charlson, Abdulaal A Chitheer, Jee-Young Jasmine Choi, Liliana G Ciobanu, John Crump, Rakhi Dandona, Robert P Dellavalle, Amare Deribew, Gabrielle deVeber, Daniel Dicker, Balem Balm Betsu, Eric L Ding, Manisha Dubey, Amanuel Yesuf Endries, Holly E Erskine, Emerito Jose Aquino Faraon, Andre Faro, Farshad Farzadfar, Joao C Fernandes, Daniel Obadare Fijabi, Christina Fitzmaurice, Thomas D Fleming, Luisa Sorio Flor, Kyle J Foreman, Richard C Franklin, Maya S Fraser, Joseph J Frostad, Nancy Fullman, Gebremedhin Berhe Gebregergs, Alemseged Aregay Gebru, Johanna M Geleijnse, Katherine B Gibney, Mahari Gidey Yihdego, Ibrahim Abdelmageem Mohamed Ginawi, Melkamu Dedefo Gishu, Tessema Assefa Gizachew, Elizabeth Glaser, Audra L Gold, Ellen Goldberg, Philimon Gona, Atsushi Goto, Harish Chander Gugnani, Guohong Jiang, Rajeev Gupta, Fisaha Haile Tesfay, Graeme J Hankey, Rasmus Havmoeller, Martha Hijar, Masako Horino, H Dean Hosgood, Guoqing Hu, Kathryn H Jacobsen, Mihajlo B Jakovljevic, Sudha P Jayaraman, Vivekanand Jha, Tariku Jibat, Catherine O Johnson, Jost Jonas, Amir Kasaeian, Norito Kawakami, Peter N Keiyoro, Ibrahim Khalil, Young-Ho Khang, Jagdish Khubchandani, Aliasghar A Ahmad Kiadaliri, Christian Kieling, Daniel Kim, Niranjan Kissoon, Luke D Knibbs, Ai Koyanagi, Kristopher J Krohn, Barthelemy Kuate Defo, Burcu Kucuk Bicer, Rachel Kulikoff, G Anil Kumar, Dharmesh Kumar Lal, Hilton Y Lam, Heidi J Larson, Anders Larsson, Dennis Odai Laryea, Janni Leung, Stephen S Lim, Loon-Tzian Lo, Warren D Lo, Katharine J Looker, Paulo A Lotufo, Hassan Magdy Abd, El Razek, Reza Malekzadeh, Desalegn Markos Shifti, Mohsen Mazidi, Peter A Meaney, Kidanu Gebremariam Meles, Peter Memiah, Walter Mendoza, Mubarek Abera Mengistie, Gebremichael Welday Mengistu, George A Mensah, Ted R Miller, Charles Mock, Alireza Mohammadi, Shafiu Mohammed, Lorenzo Monasta, Ulrich Mueller, Chie Nagata, Aliya Naheed, Grant Nguyen, Quyen Le Nguyen, Elaine Nsoesie, In-Hwan Oh, Anselm Okoro, Jacob Olusegun Olusanya, Bolajoko O Olusanya, Alberto Ortiz, Deepak Paudel, David M Pereira, Norberto Perico, Max Petzold, Michael Robert Phillips, Guilherme V Polanczyk, Farshad Pourmalek, Mostafa Qorbani, Anwar Rafay, Vafa Rahimi-Movaghar, Mahfuzar Rahman, Rajesh Kumar Rai, Usha Ram, Zane Rankin, Giuseppe Remuzzi, Andre M N Renzaho, Hirbo Shore Roba, David Rojas-Rueda, Luca Ronfani, Rajesh Sagar, Juan Ramon Sanabria, Muktar Sano Kedir Mohammed, Itamar S Santos, Maheswar Satpathy, Monika Sawhney, Ben Schöttker, David C Schwebel, James G Scott, Sadaf G Sepanlou, Amira Shaheen, Masood Ali Shaikh, June She, Rahman Shiri, Ivy Shiue, Inga Dora Sigfusdottir, Jasvinder Singh, Naris Slipakit, Alison Smith, Chandrashekhar Sreeramareddy, Jeffrey D Stanaway, Dan J Stein, Caitlyn Steiner, Muawiyyah Babale Sufiyan, Soumya Swaminathan, Rafael Tabarés-Seisdedos, Karen M Tabb, Fentaw Tadese, Mohammad Tavakkoli, Bineyam Taye, Stephanie Teeple, Teketo Kassaw Tegegne, Girma Temam Shifa, Adbullah Sulieman Terkawi, Bernadette Thomas, Alan J Thomson, Ruoyan Tobe-Gai, Marcello Tonelli, Bach Xuan Tran, Christopher Troeger, Kingsley N Ukwaja, Olalekan Uthman, Tommi Vasankari, Narayanaswamy Venketasubramanian, Vasiliy Victorovich Vlassov, Elisabete Weiderpass, Robert Weintraub, Solomon Weldemariam Gebrehiwot, Ronny Westerman, Hywel C Williams, Charles D A Wolfe, Rachel Woodbrook, Yuichiro Yano, Naohiro Yonemoto, Seok-Jun Yoon, Mustafa Z Younis, Chuanhua Yu, Maysaa El Sayed Zaki, Elias Asfaw Zegeye, Liesl Joanna Zuhlke, Christopher J L Murray, Theo Vos
Importance: Comprehensive and timely monitoring of disease burden in all age groups, including children and adolescents, is essential for improving population health. Objective: To quantify and describe levels and trends of mortality and nonfatal health outcomes among children and adolescents from 1990 to 2015 to provide a framework for policy discussion. Evidence Review: Cause-specific mortality and nonfatal health outcomes were analyzed for 195 countries and territories by age group, sex, and year from 1990 to 2015 using standardized approaches for data processing and statistical modeling, with subsequent analysis of the findings to describe levels and trends across geography and time among children and adolescents 19 years or younger...
April 3, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28383138/evaluation-of-four-hemoglobin-separation-analyzers-for-hemoglobinopathy-diagnosis
#19
Simon Degandt, Rémy Coens, Barbara Cauwelier, Helena Devos, Michel Langlois, Jan Emmerechts
BACKGROUND: Four automated hemoglobin separation devices are compared in their ability to detect hemoglobinopathies, both in HbA1c and in hemoglobinopathy mode. METHODS: Quality control material and 58 samples, including one heterozygous α-thalassemia sample, six heterozygote β-thalassemia samples and 32 samples with a known hemoglobin variant, were used to assess imprecision of HbF and HbA2 measurements, correlation with the gold standard and sensitivity for detecting β-thalassemia and Hb variants on D-100 (Bio-Rad Laboratories), HA 8180T (Menarini), HLC-723G8 (Tosoh Bioscience) and Capillarys 2 Flex Piercing (Sebia)...
April 6, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28379995/investigation-of-mutations-in-the-hbb-gene-using-the-1-000-genomes-database
#20
Tânia Carlice-Dos-Reis, Jaime Viana, Fabiano Cordeiro Moreira, Greice de Lemos Cardoso, João Guerreiro, Sidney Santos, Ândrea Ribeiro-Dos-Santos
Mutations in the HBB gene are responsible for several serious hemoglobinopathies, such as sickle cell anemia and β-thalassemia. Sickle cell anemia is one of the most common monogenic diseases worldwide. Due to its prevalence, diverse strategies have been developed for a better understanding of its molecular mechanisms. In silico analysis has been increasingly used to investigate the genotype-phenotype relationship of many diseases, and the sequences of healthy individuals deposited in the 1,000 Genomes database appear to be an excellent tool for such analysis...
2017: PloS One
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