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https://www.readbyqxmd.com/read/29349879/a-novel-pklr-gene-mutation-identified-using-advanced-molecular-techniques
#1
Yunyan He, Jianming Luo, Yonghong Lei, Siyuan Jia, Ning Liao
This study's purposes were to diagnose intractable hemolytic anemia and to provide guiding treatment for the affected family members. We performed NGS in a panel of 600 genes for blood diseases on a patient with obscure hemolytic anemia and her parents. We confirmed the diagnosis of pyruvate kinase deficiency, identified a novel homozygous mutation of the PKLR gene (NM_000298: exon 6: c.T941C: p.I314T), and ruled out other blood diseases in the Chinese family. Furthermore, amniotic fluid was taken from the mother during the second trimester, and DNA was extracted to analyze the type of PKLR gene mutation...
January 18, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29346050/diagnosis-and-management-of-inflammatory-bowel-disease-in-a-harpy-eagle-harpia-harpyja-with-suspected-fenbendazole-toxicosis
#2
Grayson A Doss, Christoph Mans, Laura Johnson, Marie E Pinkerton, Robert J Hardie, Kurt K Sladky
CASE DESCRIPTION A 14-year-old 4.1-kg (9.02-lb) male harpy eagle (Harpia harpyja) was evaluated because of vomiting, anorexia, lethargy, and weight loss (decrease of 0.35 kg [0.77 lb]) of 4 weeks' duration. The bird had previously been treated orally with fenbendazole after the initial onset of clinical signs. CLINICAL FINDINGS An initial CBC revealed marked heteropenia and anemia, but whole-body contrast-enhanced CT images and other diagnostic test findings were unremarkable. Clinical signs persisted, and additional diagnostic testing failed to reveal the cause...
February 1, 2018: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/29338568/lactoferrin-plus-health-education-versus-total-dose-infusion-tdi-of-low-molecular-weight-lmw-iron-dextran-for-treating-iron-deficiency-anemia-ida-in-pregnancy-a-randomized-controlled-trial
#3
A M Darwish, Fouly Ha, W H Saied, E Farah
BACKGROUND: Iron deficiency anemia (IDA) is one of the most common medical disorder disturbing pregnancies particularly in low resources countries, and contributes significantly to morbidities and mortalities. Thus, early diagnosis and prompt management of IDA is highly recommended. AIM: To Test the efficacy and safety of oral lactoferrin plus health education provided by a nurse versus total dose infusion (TDI) of low-molecular weight (LMW) iron dextran for treating IDA in the second and third trimester of pregnancy...
January 16, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29335897/splenectomy-in-systemic-lupus-erythematosus-and-autoimmune-hematologic-disease-a-comparative-analysis
#4
Nahim Barron, Jesús Arenas-Osuna, Gabriela Medina, María Pilar Cruz-Dominguez, Fernando González-Romero, José Arturo Velásques-García, Ernesto Alonso Ayala-López, Luis J Jara
The objective of the study is to analyze the efficacy and safety of splenectomy in the management of refractory autoimmune thrombocytopenia (AT)/autoimmune hemolytic anemia (AIHA) associated or not with systemic lupus erythematosus. Thirty-four patients after splenectomy due to severe AT and/or AIHA were divided into group 1 (G1) 18 SLE/APS patients: 9 AT/SLE patients, 6 SLE/antiphospholipid syndrome (APS), and 3 primary APS. Group 2 (G2): 16 patients without SLE/APS: 2 Fisher-Evans syndrome and 14 AIHA. Surgery approach when (1) platelets ≤ 50,000/ml despite 2 weeks on medical therapy, (2) medically dependent, and (3) medically intolerant or after two hemolytic crises in AIHA patients...
January 16, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29335019/patient-blood-management-programs-how-to-spread-the-word
#5
Shoshana Revel-Vilk, Mira Naamad
Red blood cell (RBC) transfusions save lives and improve health; however, unnecessary transfusion practice exposes patients to immediate and long-term negative consequences. Indirect consequences of unnecessary transfusions are the reduced availability of RBC units for patients who are in need. Accumulating evidence shows that restricting RBC transfusions improves outcomes and current guidelines suggest limiting RBC transfusion to the minimum number of units required to relieve symptoms of anemia or to return the patient to a safe hemoglobin range (7-8 g/dl in stable, non-cardiac inpatients)...
January 15, 2018: Israel Journal of Health Policy Research
https://www.readbyqxmd.com/read/29335010/acute-intestinal-obstruction-due-to-extrinsic-compression-by-previa-myoma-and-ectopic-pregnancy-a-case-report
#6
Harissou Adamou, Ibrahim Amadou Magagi, Souleymane Oumarou Garba, Oumarou Habou
BACKGROUND: Acute intestinal obstruction during pregnancy is a rare digestive surgical emergency with significant maternal and fetal mortality. Diagnosis is difficult, often delaying the management. Here, we report an exceptional association of mechanical acute intestinal obstruction due to compression by previa uterine leiomyoma, and a ruptured ectopic pregnancy. CASE PRESENTATION: This is the case report of a 43-year-old primiparous black woman from a rural area, who was admitted to the surgical emergency department for acute intestinal obstruction...
January 16, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29333808/the-perspective-of-primary-health-care-pediatricians-regarding-childhood-anemia-and-iron-supplementation
#7
Yanina Sguassero, Marcia M Guerrero, Mariana Romero
INTRODUCTION: Iron deficiency anemia is common in low- and middle-income countries. According to the evidence, the impact of ferrous sulfate supplementation in the pediatric population is low. Our objective was to analyze the perspective of pediatricians regarding anemia and iron supplementation. POPULATION AND METHODS: Qualitative, exploratory study. Semi-structured interviews were conducted with primary health care pediatricians from Rosario. Three core inquiry concepts were included: importance of this problem, clinical practice, and representations about iron supplementation...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333401/management-of-immune-thrombocytopenia-korean-experts-recommendation-in-2017
#8
REVIEW
Jun Ho Jang, Ji Yoon Kim, Yeung-Chul Mun, Soo-Mee Bang, Yeon Jung Lim, Dong-Yeop Shin, Young Bae Choi, Ho-Young Yhim, Jong Wook Lee, Hoon Kook
Management options for patients with immune thrombocytopenia (ITP) have evolved substantially over the past decades. The American Society of Hematology published a treatment guideline for clinicians referring to the management of ITP in 2011. This evidence-based practice guideline for ITP enables the appropriate treatment of a larger proportion of patients and the maintenance of normal platelet counts. Korean authority operates a unified mandatory national health insurance system. Even though we have a uniform standard guideline enforced by insurance reimbursement, there are several unsolved issues in real practice in ITP treatment...
December 2017: Blood Research
https://www.readbyqxmd.com/read/29333068/nab-paclitaxel-as-second-line-treatment-in-advanced-gastric-cancer-a-multicenter-phase-ii-study-of-the-hellenic-oncology-research-group
#9
Panagiotis Katsaounis, Athanasios Kotsakis, Nikolaos Kentepozidis, Aris Polyzos, Marios Bakogeorgos, Filippos Koinis, Lambros Vamvakas, Nikolaos Vardakis, Kostas Kalbakis, Ioannis Boukovinas, Ioannis I Varthalitis, Efthimios Prinarakis, Vassilis Georgoulias, John Souglakos
Background: This study evaluated the safety and efficacy of nab-paclitaxel as second-line treatment in patients with advanced gastric adenocarcinoma. Methods: Thirty-nine pretreated patients [33 with taxane-based regimens (docetaxel, cisplatin, and fluorouracil)] and 6 with combination of fluoropyrimidines plus cisplatin with locally advanced inoperable and metastatic gastric and gastroesophageal junction adenocarcinoma were treated with weekly nab-paclitaxel (150 mg/m2 d1, d8, d15 in cycles of 28 days)...
January 2018: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/29330964/spectrum-of-bone-marrow-pathology-and-hematological-abnormalities-in-methylmalonic-acidemia
#10
Nasir A Bakshi, Talal Al-Anzi, Said Y Mohamed, Zuhair Rahbeeni, Moeen AlSayed, Mohammed Al-Owain, Raashda A Sulaiman
Patients with isolated methylmalonic acidemia (MMA) may present with a wide range of hematological complications including anemia, leukopenia, thrombocytopenia, and pancytopenia. However, there are very limited data on the development of hemophagocytosis or myelodysplasia in these patients. We report three patients with isolated MUT related MMA who presented with severe refractory pancytopenia during acute illness. Their bone marrow examination revealed a wide spectrum of pathology varying from bone marrow hypoplasia, hemophagocytosis to myelodysplasia with ring sideroblasts...
January 13, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29326826/collision-tumor-consisting-of-a-colorectal-adenocarcinoma-and-dissemination-of-a-gastric-adenocarcinoma
#11
Ryoichi Miyamoto, Kazunori Kikuchi, Atsushi Uchida, Masayoshi Ozawa, Akira Kemmochi, Naoki Sano, Sosuke Tadano, Satoshi Inagawa, Shinya Adachi, Masayoshi Yamamoto
Background: Collision tumors, composed of histologically distinct tumor types, are rare entities, especially in the colorectum, and corresponding evidence-based clinical management or treatment strategies are poorly defined. This is the first report of a collision tumor composed of two histologically distinct adenocarcinomas. Case presentation: A 78-year-old male showed severe anemia and a 10% body weight loss over 1 month. Preoperative examination revealed T3N1M0 stage IIIA gastric cancer and T3N0M0 stage IIA rectal cancer...
2018: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29324643/nutritional-status-of-bariatric-surgery-candidates
#12
Aliaa Al-Mutawa, Alfred Kojo Anderson, Salman Alsabah, Mohammad Al-Mutawa
Obesity is a global epidemic affecting populations globally. Bariatric surgery is an effective treatment for morbid obesity, and has increased dramatically. Bariatric surgery candidates frequently have pre-existing nutritional deficiencies that might exacerbate post-surgery. To provide better health care management pre- and post-bariatric surgery, it is imperative to establish the nutritional status of prospective patients before surgery. The aim of this study was to assess and provide baseline data on the nutritional status of bariatric candidates...
January 11, 2018: Nutrients
https://www.readbyqxmd.com/read/29322515/current-practices-in-perioperative-blood-management-for-patients-undergoing-liver-resection-a-survey-of-surgeons-and-anesthesiologists
#13
Sean Bennett, Abdul Ayoub, Alexandre Tran, Shane English, Alan Tinmouth, Daniel I McIsaac, Dean Fergusson, Guillaume Martel
BACKGROUND: Development of intraoperative techniques and blood management strategies in liver resection, and the multidisciplinary nature of perioperative transfusion decision making, creates an opportunity for practice variation. The aim of this study was to describe the current practices in perioperative blood management and explore differences between surgeons and anesthesiologists. STUDY DESIGN AND METHODS: A Web-based survey was developed, piloted, and circulated to Canadian liver surgeons and anesthesiologists...
January 10, 2018: Transfusion
https://www.readbyqxmd.com/read/29320750/the-many-faces-of-intestinal-tract-gastric-heterotopia-a-series-of-four-cases-highlighting-clinical-and-pathological-heterogeneity
#14
Aqsa Nasir, Stuart K Amateau, Sabina Khan, Ross W Simpson, Dale C Snover, Khalid Amin
Gastric heterotopia of the intestinal tract can have a diverse clinicopathologic presentation, resulting in a diagnostic dilemma. We present a series of four cases, two male and two female patients with age range of 31-82 year, found in the duodenum, jejunum, and transverse colon. The most common and rather unusual clinical presentation was iron deficiency anemia, seen in three cases, while one patient presented with abdominal pain. Endoscopically two cases were visualized as pedunculated polyps and two as sessile/plaques like lesions...
January 7, 2018: Human Pathology
https://www.readbyqxmd.com/read/29317942/carcinoids-and-capsules-a-case-series-highlighting-the-utility-of-capsule-endoscopy-in-patients-with-small-bowel-carcinoids
#15
Michael G Noujaim, Jonathan Green, May Min, Christopher R Schlieve, Krunal Patel, Mitchell Cahan, David Cave
Background: Neuroendocine tumors (NETs) or carcinoids arise at many different sites of the gastrointestinal tract. The small intestine is the most common site for NETs. Diagnosing small bowel carcinoids remains challenging given their non-specific presentations and the overall low incidence of small bowel tumors. Video capsule endoscopy (VCE) has significanly improved our ability to detect small bowel malignancies. We explore the value of VCE in the initial workup and management of a series of small bowel carcinoid patients...
December 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/29313506/prevalence-of-tb-hiv-coinfection-in-antiretroviral-na%C3%A3-ve-patients-at-the-fann-ambulatory-treatment-center-in-dakar
#16
D Ka, N F Ngom Guéye, N Fall, N O Touré-Badiane, N Diop, G Batista, K Ndiaye, C T Ndour, M Seydi, M A Faye
To determine the prevalence of tuberculosis and describe its epidemiological, clinical, paraclinical, and therapeutic characteristics and its outcome in patients with HIV. This retrospective, descriptive, and analytical study examined the records of patients with HIV at our outpatient treatment center and selected those who were antiretroviral-naive and presented tuberculosis between January 2008 and December 2012. Among a total of 757 HIV-positive patients, 76 had tuberculosis, for a prevalence of 10 %. The sex ratio of 1...
November 1, 2017: Médecine et Santé Tropicales
https://www.readbyqxmd.com/read/29313505/effectiveness-safety-and-cost-of-partial-exchange-transfusions-in-patients-with-sickle-cell-anemia-at-a-sickle-cell-disease-center-in-sub-saharan-africa
#17
P Boma Muteb, J F J Kaluila Mamba, P Muhau Pfutila, V Bilo, J D Panda Mulefu, D A Diallo
The partial exchange transfusions necessary for management of some sickle-cell complications raise the issue of effectiveness in the context of limited resources and inadequate blood safety. This study evaluated the effectiveness, safety, and cost of partial exchange transfusions in 39 patients with sickle-cell anemia in Lubumbashi, looking at the patients' age and gender and the tolerability and direct cost of the transfusions. Excel and SPSS 18 were used for data entry and analysis. Chi2 and Fisher exact tests were used for comparisons...
November 1, 2017: Médecine et Santé Tropicales
https://www.readbyqxmd.com/read/29309293/orthopaedic-manifestations-of-sickle-cell-disease
#18
Kelly L Vanderhave, Crystal A Perkins, Brian Scannell, Brian K Brighton
Sickle cell disease (SCD) is an autosomal recessive disorder that results in hemolytic anemia related to abnormal hemoglobin and erythrocyte levels. SCD is characterized by vascular occlusive episodes, visceral sequestration, and aplastic or hemolytic crises. These crises most commonly occur in bone. The orthopaedic manifestations of SCD comprise much of the morbidity associated with this disorder. Osteonecrosis and osteomyelitis are among the most disabling and serious musculoskeletal complications in patients with SCD...
January 5, 2018: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/29307702/anemia-and-patient-blood-management-in-cardiac-surgery-literature-review-and-current-evidence
#19
REVIEW
Achal Dhir, Deepak K Tempe
No abstract text is available yet for this article.
December 2, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29303771/short-and-medium-term-biological-variation-estimates-of-red-blood-cell-and-reticulocyte-parameters-in-healthy-subjects
#20
Sabrina Buoro, Anna Carobene, Michela Seghezzi, Barbara Manenti, Paola Dominoni, Aurelio Pacioni, Ferruccio Ceriotti, Cosimo Ottomano, Giuseppe Lippi
BACKGROUND: The integrated evaluation of traditional and innovative red blood cell (RBC) and reticulocyte parameters is a rapid, inexpensive and non-invasive diagnostic tools for differential diagnosis and follow-up of anemia and other pathological conditions needing bone marrow erythropoiesis assessment. Therefore, estimating the biological variation (BV) of these parameters is essential for evaluating the analytical performance of hematological analyzers, and for enabling accurate data interpretation and appropriate clinical management...
January 5, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
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