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https://www.readbyqxmd.com/read/28828525/maternal-consumption-of-quinine-containing-sodas-may-induce-g6pd-crises-in-breastfed-children
#1
S Bichali, D Brault, C Masserot, C Boscher, M L Couec, G Deslandes, S Pissard, G Leverger, C Vauzelle, E Elefant, J C Rozé, A Cortey, Alexis Chenouard
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect often presenting with neonatal jaundice and/or hemolytic anemia. G6PD hemolytic events are linked with exposure to a pro-oxidant agent. We here report three cases of initial G6PD crises in breastfed children secondary to maternal consumption of a tonic drink which contains quinine. Quinine was found in breast milk of one of the mothers after she consumed tonic water. CONCLUSION: The amount of quinine that is transmitted through breast milk appears to be sufficient to induce G6PD crises in breastfed children...
August 21, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28801086/slowly-progressive-leukodystrophy-in-an-adolescent-male-with-phosphoglycerate-kinase-deficiency
#2
Shimpei Baba, Ayumi Kobayashi, Haruna Yokoyama, Kengo Moriyama, Ayako Kashimada, Jun Oyama, Ayako Owada, Shoichi Oyama, Tomohiro Morio, Masatoshi Takagi
We report the case of an 18-year-old man with a phosphoglycerate kinase (PGK) deficiency who had slowly progressive leukodystrophy during adolescence. The patient had a history of severe neonatal jaundice, hemolytic crisis with rhabdomyolysis triggered by febrile viral infections, dysarthria, and intellectual disability during early childhood. Clumsiness in walking and writing became obvious at ∼10years of age. Evaluations performed by us on the 18-year-old patient confirmed the presence of pyramidal tract signs, increased muscle tone, and generalized dystonia...
August 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28799315/glucose-6-phosphate-dehydrogenase-deficiency-unveiled-by-diabetic-ketoacidosis-a-dual-dilemma
#3
Pankti Mehta, Vishal Srivastav, Priya Bhate, Vishal Gupta, Milind Y Nadkar
An 18 year old male, known case of Type 1 Diabetes Mellitus was admitted in view of diabetic ketoacidosis. With normalization of blood sugars patient developed gross reddish discoloration of urine. Urine routine microscopy did not reveal RBCs or RBC casts. Peripheral blood smear revealed bite cells, Heinz bodies and spherocytes. Thus a diagnosis of hemolytic anemia with hemoglobinuria was made. Patient's glucose-6-phosphate dehydrogenase (G6PD) levels were below the normal range. G6PD, an enzyme of the HMP shunt, is the most common enzyme defect causing hemolytic anemia...
August 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28754279/-g6pd-deficiency-in-females-with-neonatal-revelation-report-of-four-cases
#4
A Renault, D Mitanchez, A Cortey
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human erythrocyte enzyme defect, estimated to affect approximately 4 million people worldwide. It is associated with severe neonatal hyperbilirubinemia, which may lead to bilirubin encephalopathy and kernicterus, and with hemolytic crisis. G6PD deficiency is an X-linked enzymopathy affecting hemizygous males, homozygous females, and also a subset of heterozygous females via chromosome X inactivation. We report four cases of female newborns with neonatal hyperbilirubinemia related to a G6PD deficiency and followed by the Centre national de référence en hémobiologie périnatale (CNRHP) from November 2013 to July 2014...
July 25, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28669521/management-of-delayed-hemolytic-transfusion-reaction-in-sickle-cell-disease-prevention-diagnosis-treatment
#5
F Pirenne, P Bartolucci, A Habibi
Transfusion remains a key treatment of sickle cell disease complications. However, delayed hemolytic transfusion reaction, the most serious complication of transfusion, may be life-threatening if hyperhemolysis develops. This syndrome is generally underdiagnosed because its biological and clinical features resemble those of vaso-occlusive crisis, and red blood cell antibodies are frequently absent. Further transfusions may aggravate the symptoms, leading to severe multiple organ failure and death. It is therefore essential to prevent, diagnose and treat this syndrome efficiently...
June 29, 2017: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
https://www.readbyqxmd.com/read/28657766/a-suspected-delayed-hemolytic-transfusion-reaction-mediated-by-anti-joa
#6
Ryan P Jajosky, Wendy C Lumm, Scott C Wise, Roni J Bollag, James F Shikle
A 32-year-old African-American woman with a history of sickle cell disease presented for surgical evaluation of left total hip arthroplasty due to avascular necrosis of the femoral head. In anticipation of a complex orthopedic procedure, pre-surgical blood work was ordered. The patient's Fenwal blood sample typed as group O, D+. Although the patient had a history of anti-Fya, the antibody identification was inconclusive, so the workup was sent to a reference laboratory. The patient was last transfused with red blood cells (RBCs) 2 years earlier, but had no history of transfusion reactions...
June 2017: Immunohematology
https://www.readbyqxmd.com/read/28401102/human-parvovirus-b19-in-patients-with-beta-thalassemia-major-from-tehran-iran
#7
Seyed Ali Mohammad Arabzadeh, Farideh Alizadeh, Ahmad Tavakoli, Hamidreza Mollaei, Farah Bokharaei-Salim, Gharib Karimi, Mohammad Farahmand, Helya Sadat Mortazavi, Seyed Hamidreza Monavari
BACKGROUND: Due to the tropism of human parvovirus B19 to erythroid progenitor cells, infection in patients with an underlying hemolytic disorder such as beta-thalassemia major leads to suppression of erythrocyte formation, referred to as transient aplasia crisis (TAC), which may be life-threatening. We investigated the prevalence of parvovirus B19 among patients with beta thalassemia major attending the Zafar Adult Thalassemia Clinic in Tehran, Iran. METHODS: This cross-sectional study was performed to determine the presence of parvovirus B19 DNA in blood samples and parvovirus B19 genotypes in plasma samples of patients with thalassemia major...
March 2017: Blood Research
https://www.readbyqxmd.com/read/28356267/hemoglobin-inhibits-albumin-uptake-by-proximal-tubule-cells-implications-for-sickle-cell-disease
#8
Megan L Eshbach, Amandeep Kaur, Youssef Rbaibi, Jesús Tejero, Ora A Weisz
Proximal tubule (PT) dysfunction, including tubular proteinuria, is a significant complication in young sickle cell disease (SCD) that can eventually lead to chronic kidney disease. Hemoglobin (Hb) dimers released from red blood cells upon hemolysis are filtered into the kidney and internalized by megalin/cubilin receptors into PT cells. The PT is especially sensitive to heme toxicity, and tubular dysfunction in SCD is thought to result from prolonged exposure to filtered Hb. Here we show that concentrations of Hb predicted to enter the tubule lumen during hemolytic crisis competitively inhibit the uptake of another megalin/cubilin ligand (albumin) by PT cells...
June 1, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/28252632/-autoimmune-hemolytic-anemia-associated-with-mesenteric-teratoma
#9
K I Ntanishyan, K R Sabirov, O V Shcherbakova, D E Vybornykh, I A Shupletsova, N V Tsvetaeva
The paper describes a case of autoimmune hemolytic anemia (AIHA) in a 27-year-old woman whose examination revealed mesenteric teratoma. AIHA was characterized by a hypertensive crisis and a temporary response to corticosteroid therapy that was complicated by the development of somatogenic psychosis and discontinued. A relapse of hemolysis developed 6 months later. The patient underwent laparoscopic splenectomy and removal of mesenteric root teratoma. Immediately after surgery, a hematological response was obtained as relief of hemolysis and restoration of a normal hemoglobin level...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28212921/towards-developing-criteria-for-scleroderma-renal-crisis-a-scoping-review
#10
REVIEW
Sabrina Hoa, Edward P Stern, Christopher P Denton, Marie Hudson
OBJECTIVE: The absence of a gold standard for scleroderma renal crisis (SRC) has hindered our understanding of this problem. The objective of this scoping review was to identify the criteria used to define SRC in order to guide the development of a consensus definition for SRC. METHODS: We conducted a search in three databases: Medline, Embase and non-Ovid Pubmed. Papers were eligible for inclusion if they were full-length articles in English whose main topic was SRC or scleroderma renal disease...
April 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28073728/biermer-anemia-hematologic-characteristics-of-66-patients-in-a-clinical-hematology-unit-at-senegal
#11
F Seynabou, N Fatou Samba Diago, D Oulimata Diop, S Abibatou Fall, D Nafissatou
Hematological manifestations can lead to diagnosis of pernicious anemia, also known as Biermer disease and Biermer anemia. This disease has been little studied among black Africans. Our aim is to describe its diagnostic and therapeutic aspects and outcome in our practice. This descriptive study retrospectively examined the records of 66 patients with pernicious anemia seen at the Clinical Hematology Unit of Le Dantec Hospital in Senegal from January 1, 2000, to June 30, 2014. Symptoms were anemic syndrome (40 cases), hemolytic anemia (13), anemic heart failure (7), isolated pallor of the mucous membranes (5), and venous thrombosis (2)...
November 1, 2016: Médecine et Santé Tropicales
https://www.readbyqxmd.com/read/27869039/the-role-of-rs1984112_g-at-cd36-gene-in-increasing-reticulocyte-level-among-sickle-cell-disease-patients
#12
Miniar Kalai, Marwa Dridi, Leila Chaouch, Imen Moumni, Houyem Ouragini, Imen Darragi, Imen Boudrigua, Dorra Chaouachi, Fethi Mellouli, Mohamed Bejaoui, Salem Abbes
AIMS AND BACKGROUND: Mediators of adhesion become a potential new target for pharmacological therapy to struggle the complications of sickle cell disease (SCD). Several mechanisms for increased adherence have been postulated and the well-studied are CD36 and VLA4 which encoded by ITGA4. Herein, we sought to determine whether one polymorphism of CD36 namely: rs1984112 and three exons of ITGA4 (4, 5, and 6) are implicated in hemolytic status and clinical events among SCD Tunisian patients...
April 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/27648201/detection-of-occult-acute-kidney-injury-in-glucose-6-phosphate-dehydrogenase-deficiency-anemia
#13
Gehan Lotfy Abdel Hakeem, Emad Allam Abdel Naeem, Salwa Hussein Swelam, Laila El Morsi Aboul Fotoh, Abdel Azeem Mohamed El Mazary, Ashraf Mohamed Abdel Fadil, Asmaa Hosny Abdel Hafez
BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency anemia is associated with intravascular hemolysis. The freely filtered hemoglobin can damage the kidney. We aimed to assess any subclinical renal injury in G6PD children. METHODS: Sixty children were included. Thirty G6PD deficiency anemia children were enrolled during the acute hemolytic crisis and after the hemolytic episode had elapsed. Another thirty healthy children were included as controls. Serum cystatin C, creatinine levels, and urinary albumin/creatinine (A/C) ratio were measured, and the glomerular filtration rate (GFR) was calculated...
2016: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/27608506/hemolytic-crisis-following-acetaminophen-overdose-in-a-patient-with-g6pd-deficiency
#14
Shannon S Rickner, Dazhe Cao, Serge-Emile Simpson
No abstract text is available yet for this article.
January 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/27603703/single-nucleotide-polymorphisms-at-191-and-292-of-galectin-3-gene-lgals3-related-to-lower-gal-3-serum-levels-are-associated-with-frequent-respiratory-tract-infection-and-vaso-occlusive-crisis-in-children-with-sickle-cell-anemia
#15
Taciana Furtado de Mendonça Belmont, Kleyton Palmeira do Ó, Andreia Soares da Silva, Kamila de Melo Vilar, Fernanda Silva Medeiros, Luydson Richardson Silva Vasconcelos, Ana Claudia Mendonça Dos Anjos, Betânia Lucena Domingues Hatzlhofer, Maíra Galdino da Rocha Pitta, Marcos André Cavalcanti Bezerra, Aderson da Silva Araújo, Moacyr Jesus Barreto de Melo Rego, Patrícia Moura, Maria do Socorro Mendonça Cavalcanti
INTRODUCTION: Patients with sickle cell anemia (SCA) may present chronic hemolytic anemia, vaso-occlusion and respiratory tract infection (RTI) episodes. Galectin-3 (GAL-3) is a multifunctional protein involved in inflammation, apoptosis, adhesion and resistance to reactive oxygen species. Studies point to a dual role for GAL-3 as both a circulation damage-associated molecular pattern and a cell membrane associated pattern recognition receptor. OBJECTIVE: To investigate associations between the SNPs of GAL-3 gene (LGALS3) and serum levels with RTI and vaso-occlusive crisis (VOC) in children with SCA...
2016: PloS One
https://www.readbyqxmd.com/read/27466799/patterns-of-opioid-use-in-sickle-cell-disease
#16
Jin Han, Santosh L Saraf, Xu Zhang, Michel Gowhari, Robert E Molokie, Joharah Hassan, Chaher Alhandalous, Shivi Jain, Jewel Younge, Taimur Abbasi, Roberto F Machado, Victor R Gordeuk
Pain, the hallmark complication of sickle cell disease (SCD), is largely managed with opioid analgesics in the United States, but comprehensive data regarding the long-term use of opioids in this patient population is lacking. The pain medication prescription records from a cohort of 203 SCD patients were analyzed. Twenty-five percent were not prescribed opioid medications while 47% took only short-acting opioids, 1% took only long-acting opioids, and 27% took a combination of short-acting and long-acting opioids...
November 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27462240/development-of-hemolytic-anemia-in-a-nivolumab-treated-patient-with-refractory-metastatic-squamous-cell-skin-cancer-and-chronic-lymphatic-leukemia
#17
K S Schwab, A Heine, T Weimann, G Kristiansen, P Brossart
Management of patients with metastatic squamous cell skin cancer, refractory to initial therapy with standard chemotherapy and radiation protocols, remains difficult with poor overall prognosis and limited therapeutic options. Recently, promising response rates with nivolumab, a programmed death receptor-1-blocking antibody, in squamous cancer of the head and neck have been demonstrated. Considering the similar histological patterns of squamous cell cancer of the skin and squamous cell cancer of the head and neck, we assumed that nivolumab could also be effective in our patients with refractory metastatic squamous cell cancer of the skin...
May 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/27348613/delayed-hemolytic-transfusion-reaction-in-adult-sickle-cell-disease-presentations-outcomes-and-treatments-of-99-referral-center-episodes
#18
Anoosha Habibi, Armand Mekontso-Dessap, Constance Guillaud, Marc Michel, Keyvan Razazi, Mehdi Khellaf, Btissam Chami, Dora Bachir, Claire Rieux, Giovanna Melica, Bertrand Godeau, Frédéric Galacteros, Pablo Bartolucci, France Pirenne
Delayed hemolytic transfusion reaction (DHTR) is one of the most feared complications of sickle-cell disease (SCD). We retrospectively analyzed the clinical and biological features, treatments and outcomes of 99 DHTRs occurring in 69 referral center patients over 12 years. The first clinical signs appeared a median of 9.4 [IQR, 3-22] days after the triggering transfusion (TT). The most frequent DHTR-related clinical manifestation was dark urine/hemoglobinuria (94%). Most patients (89%) had a painful vaso-occlusive crisis and 50% developed a secondary acute chest syndrome (ACS)...
October 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27101632/glucose-6-phosphate-dehydrogenase-deficiency-the-added-value-of-cytology
#19
Marie Roelens, Claire Dossier, Odile Fenneteau, Nathalie Couque, Lydie Da Costa
We report the case of a 2 year-old boy hospitalized into the emergency room for influenza pneumonia infection. The evolution was marked by a respiratory distress syndrome, a severe hemolytic anemia, associated with thrombocytopenia and kidney failure. First, a diagnosis of hemolytic uremic syndrome (HUS) has been judiciously suggested due to the classical triad: kidney failure, hemolytic anemia and thrombocytopenia. But, strikingly, blood smears do not exhibit schizocytes, but instead ghosts and hemighosts, some characteristic features of a glucose-6-phosphate dehydrogenase deficiency...
June 1, 2016: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/27068408/east-mediterranean-region-sickle-cell-disease-mortality-trial-retrospective-multicenter-cohort-analysis-of-735-patients
#20
MULTICENTER STUDY
Pelin Kardaş Karacaoglu, Suheyl Asma, Aslı Korur, Soner Solmaz, Nurhilal Turgut Buyukkurt, Cigdem Gereklioglu, Mutlu Kasar, Demircan Ozbalcı, Selma Unal, Hasan Kaya, Emel Gurkan, Mahmut Yeral, Çagla Sariturk, Can Boga, Hakan Ozdogu
Sickle cell disease (SCD), one of the most common genetic disorders worldwide, is characterized by hemolytic anemia and tissue damage from the rigid red blood cells. Although hydroxyurea and transfusion therapy are administered to treat the accompanying tissue injury, whether either one prolongs the lifespan of patients with SCD is unknown. SCD-related mortality data are available, but there are few studies on mortality-related factors based on evaluations of surviving patients. In addition, ethnic variability in patient registries has complicated detailed analyses...
May 2016: Annals of Hematology
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