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https://www.readbyqxmd.com/read/28523047/alpha-thalassemia-deletions-found-in-suspected-cases-of-beta-thalassemia-major-in-pakistani-population
#1
Saba Shahid, Muhammad Nadeem, Danish Zahid, Jawad Hassan, Saqib Ansari, Tahir Shamsi
BACKGROUND & OBJECTIVE: Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries. The most common deletion reported in alpha thalassemia in Pakistani population was -α(3.7) with a frequency of 8.3%, and the rare forms were -α(4.2) (0.2%) and ααα(anti3...
March 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28521822/central-nervous-system-manganese-induced-lesions-and-clinical-consequences-in-patients-with-hereditary-hemorrhagic-telangiectasia
#2
M M Serra, C H Besada, A Cabana Cal, A Saenz, C V Stefani, D Bauso, A B Golimstok, J C Bandi, D H Giunta, C M Elizondo
BACKGROUND: Around 47-74% of patients with hereditary hemorrhagic telangiectasia (HHT) have hepatic vascular malformations (HVMs); magnetic resonance images (MRI) of the central nervous system (CNS) might show in T1 sequences a hyper-intensity signal in different areas, mainly in the basal ganglia (BG) as consequence of manganese (Mn) deposits as observed in cirrhotic patients. These patients might suffer from different neuropsychiatric disorders (hepatic encephalopathy). In HHT patients, even in the presence of hepatic shunts, hepatocellular function is usually preserved...
May 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28520981/clinical-presentation-and-outcomes-of-children-with-human-granulocytic-anaplasmosis
#3
Anna M Schotthoefer, Matthew C Hall, Satya Vittala, Raza Bajwa, Holly M Frost
Background.: Adults with the tick-borne disease human granulocytic anaplasmosis (HGA) have a spectrum of acute febrile illnesses that, if untreated, might be severe. Clinical presentation and outcomes of children with HGA have been poorly described. Methods.: A retrospective analysis was conducted to determine the frequency, presentation, and outcomes of pediatric patients with HGA between 1994 and 2015 in a region of Wisconsin in which HGA is highly endemic. Patients with related International Classification of Diseases Ninth and Tenth Revision (ICD-9 and ICD-10, respectively) codes or positive HGA laboratory test results were evaluated and classified as having had confirmed, probable, or suspected HGA on the basis of the Centers for Disease Control and Prevention (CDC) case definition...
May 16, 2017: Journal of the Pediatric Infectious Diseases Society
https://www.readbyqxmd.com/read/28518222/the-effect-of-initial-molecular-profile-on-response-to-recombinant-interferon-%C3%AE-rifn%C3%AE-treatment-in-early-myelofibrosis
#4
Richard T Silver, Ariella C Barel, Elena Lascu, Ellen K Ritchie, Gail J Roboz, Paul J Christos, Attilio Orazi, Duane C Hassane, Wayne Tam, Nicholas C P Cross
BACKGROUND: Although recombinant interferon-α (rIFNα) effectively treats patients with early myelofibrosis, the effect of driver and high molecular risk (HMR) mutations has not been considered. In this phase 2 study, for the first time, the authors correlate response to rIFNα treatment with driver and HMR mutations. METHODS: Patients were diagnosed using World Health Organization or International Working Group for Myeloproliferative Neoplasms Research and Treatment criteria...
May 18, 2017: Cancer
https://www.readbyqxmd.com/read/28513798/anemia-and-hemoglobin-levels-among-indigenous-xavante-children-central-brazil
#5
Aline Alves Ferreira, Ricardo Ventura Santos, July Anne Mendonça de Souza, James R Welch, Carlos E A Coimbra
Objective: To evaluate the prevalence of anemia, mean hemoglobin levels, and the main nutritional, demographic, and socioeconomic factors among Xavante children in Mato Grosso State, Brazil. Methods: A survey was conducted with children under 10 years of age in two indigenous Xavante communities within the Pimentel Barbosa Indigenous Reserve. Hemoglobin concentration levels, anthropometric measurements, and socioeconomic/demographic data were collected by means of clinical measurements and structured interviews...
January 2017: Revista Brasileira de Epidemiologia, Brazilian Journal of Epidemiology
https://www.readbyqxmd.com/read/28513513/electrocardiographic-changes-and-troponin-t-levels-in-children-with-severe-malaria-anemia-and-heart-failure
#6
W E Sadoh, J O Uduebor
BACKGROUND: Severe malaria anemia is a major cause of childhood heart failure in malaria endemic countries. The resulting hypoxic-ischemic injuries may cause myocardial damage detectable by electrocardiogram (ECG) and elevated troponin T (cTnT) levels. OBJECTIVE: Evaluate the ECG changes and cTnT levels in children with severe malaria anemia compared with those who had uncomplicated malaria without anemia. METHODS: Consecutive children with severe malaria anemia were recruited as subjects while controls were age- and gender-matched children with uncomplicated malaria without anemia...
May 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28512588/severe-aplastic-anemia-following-parvovirus-b19-associated-acute-hepatitis
#7
Masanori Furukawa, Kosuke Kaji, Hiroyuki Masuda, Kuniaki Ozaki, Shohei Asada, Aritoshi Koizumi, Takuya Kubo, Norihisa Nishimura, Yasuhiko Sawada, Kosuke Takeda, Tsuyoshi Mashitani, Masayuki Kubo, Itsuto Amano, Tomoyuki Ootani, Chiho Ohbayashi, Koji Murata, Tatsuichi Ann, Akira Mitoro, Hitoshi Yoshiji
Human parvovirus (HPV) B19 is linked to a variety of clinical manifestations, such as erythema infectiosum, nonimmune hydrops fetalis, and transient aplastic anemia. Although a few cases have shown HPVB19 infection as a possible causative agent for hepatitis-associated aplastic anemia (HAAA) in immunocompetent patients, most reported cases of HAAA following transient hepatitis did not have delayed remission. Here we report a rare case of severe aplastic anemia following acute hepatitis with prolonged jaundice due to HPVB19 infection in a previously healthy young male...
2017: Case Reports in Hepatology
https://www.readbyqxmd.com/read/28512422/acute-onset-ocular-hypotony-after-coronary-artery-bypass-surgery
#8
Sarah Farukhi Ahmed, Audrey Xi Tai, Mason Schmutz, John Combs, Sameh Mosaed
IMPORTANCE: The purpose of this case report is to evaluate risk factors associated with post-coronary artery bypass graft (CABG) ocular hypotony compared to post-CABG ischemic optic neuropathy. OBSERVATIONS: The patient described here is a single case at the University of California, Irvine Medical Center, from July 2016. This case demonstrates the rare incidence of acute post-CABG ocular hypotony and vision loss in a patient with prior history of optic atrophy...
January 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28512409/immunoglobulin-d-multiple-myeloma-presenting-as-spontaneous-fracture
#9
Samer Al Hadidi, Khalil Katato, Ghassan Bachuwa
Immunoglobulin D multiple myeloma is a rare type of multiple myeloma that usually presents as bone pain, fatigue, or weight loss. We report a case of immunoglobulin D multiple myeloma in a 53-year-old Caucasian male patient with previous medical history of anaplastic oligodendroglioma status post-surgical resection who was evaluated for back pain while mowing the lawn. His physical examination showed tenderness over the lower thoracic vertebrae with no sensory or motor impairment. Initial lab investigations showed normocytic anemia and hypercalcemia with low parathyroid hormone...
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28508023/an-unusual-presentation-of-lcat-deficiency-as-nephrotic-syndrome-with-normal-serum-hdl-c-level
#10
Manish R Balwani, Vijaykumar A Ghodela, Vivek B Kute, Pankaj R Shah, Himanshu V Patel, Dinesh N Gera, Aruna Vanikar, Hargovind L Trivedi
Clinical and biochemical manifestations of lecithin-cholesterol acyltransferase (LCAT) deficiency include an abnormal lipid profile (characterized by hypercholesterolemia with markedly decreased high-density lipoprotein cholesterol [HDL-C] and hypertriglyceridemia), corneal opacities, hematologic abnormalities (normochromic anemia of varying intensity), splenomegaly, variable early coronary artery disease and nephropathy (initially proteinuria followed by progressive deterioration of renal function). We presented a patient with nephrotic syndrome, which renal biopsy revealed classic features of LCAT deficiency...
2017: Journal of Nephropharmacology
https://www.readbyqxmd.com/read/28507969/core-decompression-with-synthetic-grafting-as-a-joint-preservation-strategy-in-humeral-avascular-necrosis-due-to-sickle-cell-anemia-a-case-report
#11
Andrew M Steffensmeier, Karen Kirkham, John M Wiemann
INTRODUCTION: Avascular necrosis (AVN) of the femoral or humeral heads in patients with sickle cell anemia is a common and painful condition. There is currently no gold standard treatment protocol for this condition. Typically, the pain is managed with narcotics and activity restriction until there has been collapse of the subchondral bone with a degree of arthrosis sufficient to warrant total joint arthroplasty. This method entails prolonged pain for the patient and decreases the ability to function occupationally and recreationally...
November 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28507438/pulmonary-hypertension-in-nigerian-adults-with-sickle-cell-anemia
#12
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/28502540/trends-and-outcomes-in-endovascular-and-open-surgical-treatment-of-visceral-aneurysms
#13
Jason A Chin, Adele Heib, Cassius I Ochoa Chaar, Jonathan A Cardella, Kristine C Orion, Timur P Sarac
OBJECTIVE: Visceral artery aneurysms (VAAs) are rare but often repaired because of dire consequences of rupture. This is a population-based evaluation of chronologic trends in management, risk factors, and outcomes of endovascular and open therapy. METHODS: The 2003 to 2013 Agency for Healthcare Research and Quality (AHRQ) National Inpatient Sample (NIS) database was reviewed. Cases with primary diagnosis of VAA and undergoing endovascular or open repair were identified...
May 11, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28502324/favorable-long-term-outcomes-of-isolated-liver%C3%A2-transplantation-in-a-child-with-atypical-hemolytic-uremic-syndrome-caused-by-a%C3%A2-novel%C3%A2-complement-factor-h-mutation%C3%A2
#14
Heeyeon Cho, Yeonhee Lee
Atypical hemolytic uremic syndrome (aHUS) is a rare syndrome characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury that is usually caused by complement dysregulation. Complement factor H (CFH) is a regulator of the complement system produced in the liver, and CFH gene mutations are the most frequent causes of aHUS. To date, the therapeutic options for aHUS with CFH mutations have consisted of plasma infusions, plasma exchange, kidney transplantation, isolated liver transplantation, or combined liver and kidney transplantation...
May 15, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28500682/red-blood-cell-transfusions-during-sickle-cell-anemia-vaso-occlusive-crises-a-report-from-the-magnesium-in-crisis-magic-study
#15
Monica L Hulbert, Julie A Panepinto, J Paul Scott, Robert I Liem, Lawrence J Cook, Timothy Simmons, David C Brousseau
BACKGROUND: Little is known about red blood cell (RBC) transfusion practices for children hospitalized for a sickle cell vaso-occlusive pain crisis (VOC). We hypothesized that transfusion would be associated with the development of acute chest syndrome (ACS), lower hemoglobin (Hb) concentration, and lack of hydroxyurea therapy. STUDY DESIGN AND METHODS: This is a secondary analysis of all children admitted for a sickle cell pain crisis enrolled in the Magnesium in Crisis (MAGiC) randomized trial; all had HbSS or S-β(0) thalassemia...
May 12, 2017: Transfusion
https://www.readbyqxmd.com/read/28499592/risk-factors-for-poor-outcomes-of-children-with-acute-acalculous-cholecystitis
#16
Yi-An Lu, Cheng-Hsun Chiu, Man-Shan Kong, Han-I Wang, Hsun-Chin Chao, Chien-Chang Chen
BACKGROUND: Acute acalculous cholecystitis (AAC) is generally considered to be a mild disease in children; however, if left untreated or treated without caution, AAC can lead to severe outcomes, such as death. The objectives of this study were to present the clinical features and identify the predictors of mortality in pediatric AAC. METHODS: Patients diagnosed with AAC between 2005 and 2012 were enrolled. AAC was defined by the presence of fever and an echo-proven thickened gallbladder wall exceeding 4 mm...
March 25, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28494904/complex-regional-pain-syndrome-type-1-predictors-epidemiological-perspective-from-a-national-database-analysis
#17
Ahmad Elsharydah, Nathaniel H Loo, Abu Minhajuddin, Enas S Kandil
OBJECTIVE: Complex regional pain syndrome type 1 is a disabling pain disorder with unclear etiology. It is usually triggered by an injury to a limb with or without specific nerve injury. The objective of this study is to explore the risk factors and predictors for this disease utilizing a large national database. DESIGN: Retrospective analysis of the Nationwide Inpatient Sample database from 2007 to 2011 in the United States. SETTING AND PATIENTS: Adult inpatients diagnosed with complex regional pain syndrome type 1...
June 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28494827/use-of-placental-umbilical-blood-sampling-for-neonatal-admission-blood-cultures-benefits-challenges-and-strategies-for-implementation
#18
Shannon P Moore, Desi M Newberry, Amy J Jnah
Placental blood remains an underused resource for early neonatal care despite ample evidence that placental blood provides the same clinical decision making information without the need for painful, invasive blood sampling procedures. Potential benefits of placental/umbilical blood sampling (PUBS) for neonatal admission labs include decreases in pain reactivity, rates of anemia, need for blood transfusions, use of vasopressors, and rates of intraventricular hemorrhage. Here, we present a unique case study of a critically ill infant with contradictory blood culture results from PUBS and direct infant sampling...
May 1, 2017: Neonatal Network: NN
https://www.readbyqxmd.com/read/28492865/the-relationship-between-iron-deficiency-anemia-and-sensorineural-hearing-loss-in-the-pediatric-and-adolescent-population
#19
Kathleen M Schieffer, James R Connor, James A Pawelczyk, Deepa L Sekhar
Purpose: A correlation between iron deficiency anemia (IDA) and sudden sensorineural hearing loss (SNHL) was described in adults. In this study, we examined if there is a relationship between IDA and hearing loss in the pediatric population. Method: This was a retrospective cohort study of data collected from the Informatics for Integrating Biology and the Bedside database from 2011 to 2016. Children and adolescents 4-21 years old seen at Penn State Milton S. Hershey Medical Center, Hershey, PA, were examined for hearing loss and IDA status...
May 10, 2017: American Journal of Audiology
https://www.readbyqxmd.com/read/28491887/risk-factors-for-surgical-site-infection-after-cholecystectomy
#20
David K Warren, Katelin B Nickel, Anna E Wallace, Daniel Mines, Fang Tian, William J Symons, Victoria J Fraser, Margaret A Olsen
BACKGROUND: There are limited data on risk factors for surgical site infection (SSI) after open or laparoscopic cholecystectomy. METHODS: A retrospective cohort of commercially insured persons aged 18-64 years was assembled using International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) procedure or Current Procedural Terminology, 4th edition codes for cholecystectomy from December 31, 2004 to December 31, 2010. Complex procedures and patients (eg, cancer, end-stage renal disease) and procedures with pre-existing infection were excluded...
2017: Open Forum Infectious Diseases
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