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https://www.readbyqxmd.com/read/28203325/inherited-thrombocytopenia-with-a-different-type-of-gene-mutation-a-brief-literature-review-and-two-case-studies
#1
Mohammad Taghi Arzanian
Hereditary thrombocytopenias are rare bleeding disorders, which cause a deficiency of platelets in early infancy. This group of disorders is sometimes associated with abnormal phenotypes, like absence of radius. Diagnosis of this type of thrombocytopenia is usually difficult; other causes of thrombocytopenia, such as immune disorders and infections, must be ruled out. The symptoms of hereditary thrombocytopenia also vary from seldom and mild to severe bleeding and occasionally may first occur in late childhood...
October 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/28203107/clinical-validation-of-immunoglobulin-a-nephropathy-diagnosis-in-swedish-biopsy-registers
#2
Simon Jarrick, Sigrid Lundberg, Adina Welander, C Michael Fored, Jonas F Ludvigsson
AIMS: The aims of this study were to validate the diagnosis of IgA nephropathy (IgAN) in Swedish biopsy registers against patient charts and to describe the clinical characteristics of patients with a biopsy indicating IgAN. METHODS: This is a population-based cohort study. Out of 4,069 individuals with a renal biopsy consistent with IgAN (biopsies performed in 1974-2011), this study reviewed patient charts of a random subset of 127 individuals. Clinical and biopsy characteristics at the time of biopsy were evaluated, and positive predictive values (PPV) were calculated with 95% confidence intervals (CI)...
2017: Clinical Epidemiology
https://www.readbyqxmd.com/read/28198690/thrombotic-microangiopathies-similar-presentations-different-therapies
#3
REVIEW
Gerald B Appel
Thrombotic thrombocytopenic purpura, Shiga toxin hemolytic uremic syndrome, atypical hemolytic uremic syndrome, and antiphospholipid syndrome are thrombotic microangiopathies that present similarly but arise from different causes. Management depends on distinguishing them promptly and providing targeted therapy.
February 2017: Cleveland Clinic Journal of Medicine
https://www.readbyqxmd.com/read/28183278/a-rare-case-of-renal-thrombotic-microangiopathy-associated-with-castleman-s-disease
#4
Anubha Mutneja, L Nicholas Cossey, Helen Liapis, Ying Maggie Chen
BACKGROUND: Castleman's disease (CD) is an uncommon, heterogeneous lympho-proliferative disorder leading to high circulating levels of interleukin-6 (IL-6) and vascular endothelial growth factor (VEGF). Renal involvement has been only described in a limited number of small studies. Herein, we report a rare case of renal thrombotic microangiopathy (TMA) associated with CD and investigate the podocyte expression of VEGF in the renal biopsy prior to initiation of treatment. CASE PRESENTATION: An 18-year-old male presented with fever, diarrhea, diffuse lymphadenopathy, ascites and acute kidney injury...
February 10, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28176472/suspected-atypical-haemolytic-uraemic-syndrome-in-two-post-partum-patients-with-foetal-death-in-utero-responding-to-eculizumab
#5
REVIEW
Justin Chua, Kathy Paizis, Simon Z He, Peter Mount
BACKGROUND: Atypical haemolytic uraemic syndrome (aHUS) is a rare condition with the triad of microangiopathic haemolytic anaemia, thrombocytopenia and acute kidney injury. Other conditions that present in a similar manner peri-partum include thrombotic thrombocytopaenic purpura, and pregnancy associated conditions including HELLP syndrome (haemolysis, elevated liver enzymes and low platelets), severe pre-eclampsia and less commonly acute fatty liver of pregnancy. CASE REPORTS: We describe two cases of suspected aHUS, who presented post-partum with foetal death-in-utero at 33 and 37 weeks respectively...
February 2017: Nephrology
https://www.readbyqxmd.com/read/28174414/a-case-of-henoch-schonlein-purpura-associated-with-rotavirus-infection-in-an-elderly-asian-male-and-review-of-the-literature
#6
Chen Tang, Daphne Scaramangas-Plumley, Cynthia C Nast, Zab Mosenifar, Marc A Edelstein, Michael Weisman
BACKGROUND Henoch-Schönlein purpura (HSP), a small vessel vasculitis mediated by deposition of immune-complexes containing IgA in the skin, gut, and glomeruli, often presents with abdominal pain, purpuric rash in the lower extremities and buttocks, joint pain, and hematuria. The disease most commonly targets children but can affect adults who tend to have a worse prognosis. CASE REPORT We discuss a case of HSP in an elderly Chinese male who presented with severe proximal bowel inflammation, vasculitic rash, and proteinuria; he was found to have positive stool rotavirus and giardia...
February 8, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28168662/multicentric-castleman-s-disease-associated-with-iga-vasculitis-henoch-sch%C3%A3-nlein-purpura-responding-well-to-tocilizumab-a-case-report
#7
REVIEW
Yoichi Oshima, Junichi Hoshino, Tatsuya Suwabe, Noriko Hayami, Masayuki Yamanouchi, Akinari Sekine, Toshiharu Ueno, Hiroki Mizuno, Junko Yabuuchi, Aya Imafuku, Masahiro Kawada, Rikako Hiramatsu, Eiko Hasegawa, Naoki Sawa, Kenmei Takaichi, Nobukazu Hayashi, Takeshi Fujii, Yoshifumi Ubara
A 41-year-old man was referred to our hospital for the evaluation of hypergammaglobulinemia (IgG 2898 mg/dL and IgA 587 mg/dL), inflammation (CRP 6.7 mg/dL and serum interleukin-6 (IL-6) 15.1 ng/L), and anemia (Hb 10.9 mg/dL). Castleman's disease (CD) was diagnosed by axillary lymph node biopsy. Five months later, painful purpura (multiple palpable 5 mm lesions) developed on his legs, gradually spreading to the upper limbs, thighs, and trunk, accompanied by arthralgia of the wrists, ankles, and knees...
February 6, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28152662/posterior-reversible-encephalopathy-syndrome-as-a-complication-of-henoch-sch%C3%A3-nlein-purpura-in-a-seven-year-old-girl
#8
Daiane Dos Santos, Felipe Welter Langer, Tatiane Dos Santos, Giordano Rafael Tronco Alves, Marisa Feiten, Walter Teixeira de Paula Neto
Introduction Henoch-Schönlein purpura is a multisystem small vessel vasculitis. Neurologic manifestations are uncommon. Posterior reversible encephalopathy syndrome is a rare complication of Henoch-Schönlein purpura with typical clinical and neuroimaging findings that occurs most commonly in the setting of severe hypertension and renal injury. Case presentation A seven-year-old girl was admitted to our institution presenting with clinical and laboratory findings suggestive of Henoch-Schönlein purpura. Glucocorticoid therapy was initiated, but five days following her admission, she developed altered consciousness, seizures, arterial hypertension, and cortical blindness...
January 1, 2017: Scottish Medical Journal
https://www.readbyqxmd.com/read/28133771/thrombotic-thrombocytopenic-purpura-misdiagnosed-as-autoimmune-cytopenia-causes-of-diagnostic-errors-and-consequence-on-outcome-experience-of-the-french-thrombotic-microangiopathies-reference-centre
#9
Maximilien Grall, Elie Azoulay, Lionel Galicier, François Provôt, Alain Wynckel, Pascale Poullin, Steven Grange, Jean-Michel Halimi, Alexandre Lautrette, Yahsou Delmas, Claire Presne, Mohamed Hamidou, Stéphane Girault, Frédéric Pène, Pierre Perez, Tarik Kanouni, Amélie Seguin, Christiane Mousson, Dominique Chauveau, Mario Ojeda-Uribe, Virginie Barbay, Agnès Veyradier, Paul Coppo, Ygal Benhamou
Thrombotic thrombocytopenic purpura (TTP) has a devastating prognosis without adapted management. Sources of misdiagnosis need to be identified to avoid delayed treatment. We studied 84 patients with a final diagnosis of severe (<10%) acquired ADAMTS13 deficiency-associated TTP from our National database that included 423 patients, who had an initial misdiagnosis (20% of all TTP). Main diagnostic errors were attributed to autoimmune thrombocytopenia, associated (51%) or not (37%) with autoimmune hemolytic anemia...
January 30, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28127481/severe-thrombocytopenic-purpura-in-a-child-with-brucellosis-case-presentation-and-review-of-the-literature
#10
Alexandros Makis, Aikaterini Perogiannaki, Nikolaos Chaliasos
Brucellosis is still endemic and a significant public health problem in many Mediterranean countries, including Greece. It is a multisystemic disease with a broad spectrum of clinical manifestations including hematological disorders, such as anemia, pancytopenia, leucopenia, and thrombocytopenia. Thrombocytopenia is usually moderate and attributed to bone marrow suppression or hypersplenism. Rarely, autoimmune stimulation can cause severe thrombocytopenia with clinically significant hemorrhagic manifestations...
2017: Case Reports in Infectious Diseases
https://www.readbyqxmd.com/read/28088210/endothelial-function-in-children-with-a-history-of-henoch-schonlein-purpura
#11
Yonatan Butbul Aviel, Lotem Dafna, Giora Pilar, Riva Brik
BACKGROUND: Although Henoch-Schonlein purpura (HSP) is the most common form of systemic vasculitis in children, the long term effect of HSP on endothelial function is still not clear. The aim of our study was to evaluate the long term effect of HSP on endothelial function in children and adolescents. METHODS: This research was an observational prospective study. The study group comprised of 19 children diagnosed with HSP. The minimum interval between the diagnosis with HSP and endothelial testing was 5 months...
January 14, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28079790/ecthyma-gangrenosum-a-skin-manifestation-of-pseudomonas-aeruginosa-sepsis-in-a-previously-healthy-child-a-case-report
#12
Stephanie Biscaye, Diane Demonchy, Mickael Afanetti, Audrey Dupont, Herve Haas, Antoine Tran
RATIONALE: Ecthyma gangrenosum (Eg) is a necrotic lesion that is mostly seen in immunocompromised patients. It reflects a severe sepsis, possibly caused by Pseudomonas aeruginosa (Pa). PATIENT CONCERNS: A healthy 3-year-old girl admitted to the Pediatric Emergency Department presented a sepsis-associated purpura with neurological and respiratory distress. INTERVENTIONS: An empiric antibiotherapy (anti-meningococcal) was prescribed. DIAGNOSES: Forty-eight hours after admission, blood and wound cultures were positive for Pa...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28075671/hospitalization-rates-for-intussusception-in-children-aged-0-59%C3%A2-months-from-2009-to-2014-in-italy
#13
Vincenzo Restivo, Claudio Costantino, Fabio Tramuto, Francesco Vitale
The real cause of intussusception is not fully understood and a variety of conditions have been associated with it (Meckel diverticulum, polyps, duplication cysts, parasites, Henoch-Schönlein purpura, cystic fibrosis, hemolytic-uremic syndrome and infectious gastroenteritis). Furthermore few European countries, following WHO recommendation to monitor baseline incidence of intussusception before implementation of immunization program for rotavirus, used intussusception rate as a baseline value to compare the same figures in the period before and after introduction of vaccination...
February 2017: Human Vaccines & Immunotherapeutics
https://www.readbyqxmd.com/read/28071659/acg-clinical-guideline-treatment-of-helicobacter-pylori-infection
#14
William D Chey, Grigorios I Leontiadis, Colin W Howden, Steven F Moss
Helicobacter pylori (H. pylori) infection is a common worldwide infection that is an important cause of peptic ulcer disease and gastric cancer. H. pylori may also have a role in uninvestigated and functional dyspepsia, ulcer risk in patients taking low-dose aspirin or starting therapy with a non-steroidal anti-inflammatory medication, unexplained iron deficiency anemia, and idiopathic thrombocytopenic purpura. While choosing a treatment regimen for H. pylori, patients should be asked about previous antibiotic exposure and this information should be incorporated into the decision-making process...
February 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28060120/type-2b-von-willebrand-disease-an-unusual-cause-of-severe-neonatal-thrombocytopenia
#15
Seth J Rotz, Joseph S Palumbo, Russell E Ware
An infant with presumed maternal immune thrombocytopenic purpura had persistent thrombocytopenia with platelet clumping. The patient had no significant bleeding symptoms in the first year of life and von Willebrand antigen and ristocetin cofactor activity were normal. Absent high molecular weight multimers ultimately led to a genetically proven diagnosis of type 2B von Willebrand disease (3964G>A VWF exon 28), highlighting the challenges of establishing this diagnosis in infants.
January 5, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28052686/henoch-sch%C3%A3-nlein-purpura-as-a-rare-cause-of-an-acute-abdomen
#16
M Davies, M Nanda Kumar, V Shetty, P Mitchell
A 52-year-old man presented with a purpuric rash affecting his legs and hypertension. He was diagnosed with Henoch-Schönlein purpura and discharged with non-steroidal anti-inflammatory drugs. Three weeks later, he presented again with loss of appetite and vomiting before developing abdominal pain with pyrexia of 38.5°C and rigors. On examination, he was hypotensive with a distended abdomen and a national early warning score of 6. Computed tomography revealed enteropathy of Henoch-Schönlein purpura. The patient deteriorated and went for an emergency laparotomy, where 30cm of ischaemic small bowel was resected...
February 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/28029716/inactivation-of-human-coagulation-factor-x-by-a-protease-of-the-pathogen-capnocytophaga-canimorsus
#17
K Hack, F Renzi, E Hess, F Lauber, J Douxfils, J M Dogné, G R Cornelis
BACKGROUND: Capnocytophaga canimorsus is a Gram-negative bacterium, which belongs to the oral flora of dogs and causes fulminant sepsis in humans who have been bitten, licked or scratched. In patients, bleeding abnormalities, such as petechiae, purpura fulminans or disseminated intravascular coagulation (DIC) occur frequently. OBJECTIVE: We investigated whether C. canimorsus could actively contribute to these bleeding abnormalities. METHODS: Calibrated automated thrombogram and clotting time assays were performed to assess the anticoagulant activity of C...
December 28, 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28013299/autoimmunity-in-primary-antibody-deficiencies
#18
Gholamreza Azizi, Moslem Ahmadi, Hassan Abolhassani, Reza Yazdani, Hamed Mohammadi, Abbas Mirshafiey, Nima Rezaei, Asghar Aghamohammadi
Primary antibody deficiencies (PADs) are the most common inherited primary immunodeficiencies in humans, characterized by hypogammaglobulinemia, an inability to produce specific antibodies, and recurrent infections mainly caused by encapsulated bacteria. However, it has been shown that inflammatory disorders, granulomatous lesions, lymphoproliferative diseases, cancer, and autoimmunity are associated with the various types of PAD. Both systemic and organ-specific autoimmune diseases could be attributed to B-cell defects in PAD patients...
2016: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/27958258/case-of-twin-pregnancy-complicated-by-idiopathic-thrombocytopenic-purpura-treated-with-intravenous-immunoglobulin-review-of-the-literature
#19
W X Zhao, X F Yang, J H Lin
Idiopathic thrombocytopenic purpura (ITP) is an acquired thrombocytopenia without other clear cause of thrombocytopenia. It is not common in a singleton pregnancy and less common in twin pregnancy. We report a 33-year-old ITP pluripara whose first pregnancy was uneventful. She carried twin pregnancy, complicated by recurrent very low platelets, and gave birth to preterm twins. This patient received multiple courses of intravenous immunoglobulin (IVIG) and showed a significant platelet count improvement with IVIG therapy...
January 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/27956314/-a-stereotypical-clinical-presentation-of-childhood-linear-purpura-of-the-arms-analysis-of-six-cases
#20
S Hosteing, C Uthurriague, F Boralevi, J Mazereeuw-Hautier
Among causes of childhood purpura, other- or self-induced mechanical purpura, such as factitious purpura, needs to be considered. This cause is unfamiliar to pediatricians, usually compromising early diagnosis. We report on the cases of six children, seen between 1998 and 2014 at the Toulouse and Bordeaux Departments of Dermatology, presenting with a stereotypical linear purpura on the arms. All were females, aged 6-14 years. One patient had a psychiatric history, whereas the others were undergoing a stressful time period...
January 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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