Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Simultaneous acute splenic sequestration and transient aplastic crisis in children with sickle cell disease.

ABSTRACT: Acute splenic sequestration crisis (ASSC) is a hematological emergency in young children with sickle cell disease (SCD), characterized by worsening anemia and splenomegaly, usually with reticulocytosis and thrombocytopenia. Transient aplastic crisis (TAC) due to parvovirus B19 infection occurs in older children with SCD, and typically manifests as worsening anemia with reticulocytopenia and no splenomegaly. Five older children with SCD (4 HbSC, 1 HbSS on hydroxyurea) developed ASSC concurrent with TAC and had a severe clinical course. Our cases suggest that older children with SCD and acute parvovirus infection should be monitored closely for splenomegaly and multi-system dysfunction.

SUBMITTER: Yates AM

PROVIDER: S-EPMC4360980 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Simultaneous acute splenic sequestration and transient aplastic crisis in children with sickle cell disease.

Yates Amber Mayfield AM Hankins Jane S JS Mortier Nicole A NA Aygun Banu B Ware Russell E RE

Pediatric blood & cancer 20090901 3

Acute splenic sequestration crisis (ASSC) is a hematological emergency in young children with sickle cell disease (SCD), characterized by worsening anemia and splenomegaly, usually with reticulocytosis and thrombocytopenia. Transient aplastic crisis (TAC) due to parvovirus B19 infection occurs in older children with SCD, and typically manifests as worsening anemia with reticulocytopenia and no splenomegaly. Five older children with SCD (4 HbSC, 1 HbSS on hydroxyurea) developed ASSC concurrent wi ...[more]

PMID: 19418550

Similar Datasets

Double whammy- acute splenic sequestration crisis in patient with aplastic crisis due to acute parvovirus infection.

Project description:Splenic dysfunction is a major feature of sickle cell disease (SCD) and can manifest as acute splenic sequestration crisis (ASSC), which is the earliest life-threatening complication seen in patients with SCD. Aplastic crisis is another potentially deadly complication of sickle cell disease that develops when erythrocyte production temporarily drops. Infection with parvovirus B-19 frequently causes aplastic crises. These two complications are known to be mutually exclusive due to their classic presentation signs and symptoms but there have been few cases where a patient can have concomitant presentation of both phenomena, which can result in a fatal outcome. These few cases force us to rethink the etiology and subsequent management guidelines of these complications. We present to you a case of an unfortunate 23-year-old female who had both complications occurring at the same time, resulting in death.

| S-EPMC5538243 | biostudies-other

Association of the SOD2 Polymorphism (Val16Ala) and SOD Activity with Vaso-occlusive Crisis and Acute Splenic Sequestration in Children with Sickle Cell Anemia.

Project description:The SOD2 polymorphism Val16Ala T?C influences the antioxidative response. This study investigated the association of the SOD2 polymorphism and superoxide dismutase (SOD) activity with the vaso-occlusive crisis (VOC) and acute splenic sequestration (ASS) in children with sickle cell anemia (SCA). One hundred ninety-five children with SCA aged 1-9 years old were analyzed. The TC and CC genotypes were associated with lower SOD activity compared with the TT genotype (p=0.0321; p=0.0253, respectively). Furthermore, TC and CC were more frequent in patients with VOC or ASS (p=0.0285; p=0.0090, respectively). These results suggest that the SOD2 polymorphism associated with low SOD activity could be a susceptibility factor for the occurrence of VOC and ASS.

| S-EPMC5841937 | biostudies-literature

Elevated IL-1α and CXCL10 serum levels occur in patients with homozygous sickle cell disease and a history of acute splenic sequestration.

Project description:Acute splenic sequestration (ASS) and chronic hypersplenism are common features of homozygous sickle cell (SS) disease in the first 5 years of life affecting one-third of subjects in the Jamaican Cohort Study. The risk factors are largely unknown and the current study explores a possible role of genetic factors. We have explored these in subjects who received splenectomy in the management of ASS (n=8) or chronic hypersplenism (n=9) along with age, gender, and genotype matched controls using Luminex Technology to assess 42 human cytokines/chemokines, including IL-1α and CXCL10 (IP-10). Levels of IL-1α (p=0.008) and CXCL10 (p=0.009) were significantly elevated in patients treated by splenectomy compared with the control group. Levels of IL-1α were significantly higher in those with a history of ASS compared with matched normal controls (p=0.028) but not in those treated for hypersplenism (p=0.093). Furthermore, several significant differences were found in the median ratios of some cytokine biomarkers between the splenectomized group and the normal controls. These observations are consistent with acute splenic sequestration having a distinct phenotype which may be helpful in predicting those at risk of this complication and suggest that the mechanism of these differences merit further study.

| S-EPMC3375690 | biostudies-other

Transient receptor potential polymorphism and haplotype associate with crisis pain in sickle cell disease.

Project description:AIM:Episodes of acute pain crisis contribute to considerable morbidity and mortality in sickle cell disease (SCD). Incomprehensive understanding of the underlying pain heterogeneity results in inadequate pain management. The transient receptor potential (TRP) family of voltage-gated ion channels acts as sensory transducers of diverse noxious stimuli. We performed an association study of polymorphisms in candidate genes TRPV1 and TRPA1 with pain in SCD patients. METHODS:Utilization rate, in other words, number of emergency department/acute care center admissions over 12 months as a result of pain crisis, served as a marker for acute pain. RESULTS & CONCLUSION:We identified that rs920829 (incident rate ratio = 1.44, p = 0.027 additive; IRR=1.68, p=0.008 recessive models of negative binomial regression) and the CGAGG haplotype of TRPA1 (odds ratio = 0.218, p = 0.009) were significantly associated with utilization rate, suggesting that TRPA1 gene polymorphisms may influence acute pain crisis in SCD.

| S-EPMC6275563 | biostudies-literature

Constrictive pericarditis masquerading as hepatic sequestration crisis in a patient with sickle cell disease: a case report.

Project description:Background:Constrictive pericarditis is a challenging diagnosis that is easily overlooked. Worldwide, tuberculosis (TB) is the leading cause; however, in the developed countries pericarditis and cardiac surgery are common aetiologies. Medical therapy can be sufficient in specific aetiologies preventing progression of constriction and thus surgery. Case summary:A young student from Nigeria, with established sickle cell disease, presented with hepatomegaly and features of right heart failure. Following multiple investigations for hepatomegaly and pyrexia of unknown origin he was initially treated for hepatic sequestration crisis. After readmission with ongoing pyrexia, he was noted to have features of constrictive physiology on cardiac imaging. Constrictive pericarditis, secondary to TB, was suspected based on the patient's background and clinical features. He was empirically commenced on anti-TB therapy after a positive interferon-gamma release assay test; Mycobacterium tuberculosis was later isolated in sputum cultures. He made a successful recovery with full radiological resolution of constrictive features on follow-up cardiac imaging. Discussion:Constrictive pericarditis remains an elusive diagnosis in the context of coexisting medical problems. Revisiting the presentation and imaging helped in establishing the diagnosis. It is a potentially curable cause of diastolic heart failure with good outcomes if diagnosed and managed early. We were able to successfully manage the patient for TB constrictive pericarditis on medical therapy alone without surgical intervention.

| S-EPMC7047049 | biostudies-literature

Glucocorticoid receptor single nucleotide polymorphisms are associated with acute crisis pain in sickle cell disease.

Project description:AIM:Pain in sickle cell disease patients is heterogeneous and genetic polymorphisms may predispose an individual to varied vulnerability to painful events. We studied the association of SNPs in the glucocorticoid receptor gene (NR3C1) with pain in sickle cell disease. METHOD:Acute pain was scored as the number of utilizations due to crisis pain in a 12-month period. Chronic pain was calculated as the Composite Pain Index score. RESULTS & CONCLUSION:rs33389 T allele (IRR = 1.53, p = 0.014 additive; IRR = 1.64, p = 0.011 recessive), rs2963155 G allele (IRR = 1.80, p < 0.001 additive; IRR = 2.25, p = 0.021 dominant; IRR = 2.07, p < 0.001 recessive) and rs9324918 C allele (IRR = 1.43, p = 0.021 additive) were associated with higher utilization rates, indicating the potential contribution of NR3C1 polymorphisms to acute pain heterogeneity in sickle cell disease.

| S-EPMC6275559 | biostudies-literature

Extracellular hemin crisis triggers acute chest syndrome in sickle mice.

Project description:The prevention and treatment of acute chest syndrome (ACS) is a major clinical concern in sickle cell disease (SCD). However, the mechanism underlying the pathogenesis of ACS remains elusive. We tested the hypothesis that the hemolysis byproduct hemin elicits events that induce ACS. Infusion of a low dose of hemin caused acute intravascular hemolysis and autoamplification of extracellular hemin in transgenic sickle mice, but not in sickle-trait littermates. The sickle mice developed multiple symptoms typical of ACS and succumbed rapidly. Pharmacologic inhibition of TLR4 and hemopexin replacement therapy prior to hemin infusion protected sickle mice from developing ACS. Replication of the ACS-like phenotype in nonsickle mice revealed that the mechanism of lung injury due to extracellular hemin is independent of SCD. Using genetic and bone marrow chimeric tools, we confirmed that TLR4 expressed in nonhematopoietic vascular tissues mediated this lethal type of acute lung injury. Respiratory failure was averted after the onset of ACS-like symptoms in sickle mice by treating them with recombinant hemopexin. Our results reveal a mechanism that helps to explain the pathogenesis of ACS, and we provide proof of principle for therapeutic strategies to prevent and treat this condition in mice.

| S-EPMC3809772 | biostudies-literature

Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients.

Project description:Patients with sickle cell disease (SCD) present with a wide range of clinical complications. Understanding this clinical heterogeneity offers the prospects to tailor the right treatments to the right patients and also guide the development of novel therapies. Several environmental (eg, nutrition) and nonenvironmental (eg, fetal hemoglobin levels, ?-thalassemia status) factors are known to modify SCD severity. To find new genetic modifiers of SCD severity, we performed a gene-centric association study in 1514 African American participants from the Cooperative Study of Sickle Cell Disease (CSSCD) for acute chest syndrome (ACS) and painful crisis. From the initial results, we selected 36 single nucleotide polymorphism (SNPs) and genotyped them for replication in 387 independent patients from the CSSCD, 318 SCD patients recruited at Georgia Health Sciences University, and 449 patients from the Duke SCD cohort. In the combined analysis, an association between ACS and rs6141803 reached array-wide significance (P = 4.1 × 10(-7)). This SNP is located 8.2 kilobases upstream of COMMD7, a gene highly expressed in the lung that interacts with nuclear factor-?B signaling. Our results provide new leads to gaining a better understanding of clinical variability in SCD, a "simple" monogenic disease.

| S-EPMC3716204 | biostudies-literature

Sickle cell disease in children.

Project description:Early identification of infants with sickle cell disease (SCD) by newborn screening, now universal in all 50 states in the US, has improved survival, mainly by preventing overwhelming sepsis with the early use of prophylactic penicillin. Routine transcranial Doppler screening with the institution of chronic transfusion decreases the risk of stroke from 10% to 1% in paediatric SCD patients. Hydroxyurea decreases the number and frequency of painful crises, acute chest syndromes and number of blood transfusions in children with SCD. Genetic research continues to be driven toward the prevention and ultimate cure of SCD before adulthood. This review focuses on clinical manifestations and therapeutic strategies for paediatric SCD as well as the evolving topic of gene-focused prevention and therapy.

| S-EPMC3899685 | biostudies-other

Ketamine administration for acute painful sickle cell crisis: A randomized controlled trial.

Project description:ObjectiveThe objective was to evaluate the efficacy and safety of single-dose ketamine infusion in adults with sickle cell disease (SCD) who presented with acute sickle vasoocclusive crisis (VOC).MethodsThis study was a parallel-group, prospective, randomized, double-blind, pragmatic trial. Participants were randomized to receive a single dose of either ketamine or morphine, infused over 30 min. Primary outcome was mean difference in the numerical pain rating scale (NPRS) score over 2 h. NPRS was recorded every 30 min for a maximum of 180 min and secondary outcomes were cumulative dose of opioids, emergency department (ED) length of stay, hospital admission, change in vital signs, and drug-related side effects. Authors performed the analysis using intention-to-treat principle.ResultA total of 278 adults with SCD and who presented with acute sickle VOC participated in this trial. A total of 138 were allocated to the ketamine group. Mean (±standard deviation [SD]) NPRS scores over 2 h were 5.7 (±2.13) and 5.6 (±1.90) in the ketamine and morphine groups. The ketamine group received significantly lower cumulative doses of morphine during their ED stay (mean ± SD = 4.5 ± 4.6 mg) than of the morphine group (mean ± SD = 8.5 ± 7.55 mg). Both groups had similar rates of hospital admission: 6.3% in the ketamine group had drug-related side effects compared to 2.2% in the morphine group.ConclusionEarly use of ketamine in adults with VOC resulted in a meaningful reduction in pain scores over a 2-h period and reduced the cumulative morphine dose in the ED with no significant drug-related side effects in the ketamine-treated group.

| S-EPMC9292870 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data