scholarly journals The Philadelphia Chromosome in an Unusual Case of Myeloproliferative Disease

Blood ◽  
1965 ◽  
Vol 26 (4) ◽  
pp. 471-478 ◽  
Author(s):  
CLARK W. HEATH ◽  
WILLIAM C. MOLONEY
Keyword(s):  
Ankylosing Spondylitis ◽  
Direct Relationship ◽  
Unusual Case ◽  
Philadelphia Chromosome ◽  
Myeloproliferative Disorders ◽  
Clinical Findings ◽  
Myeloproliferative Disease ◽  
Diagnostic Significance ◽  
History Of

Abstract In an unusual case of myeloproliferative disease, the Ph1 chromosome was found in association with persistently elevated levels of LAP activity. Clinical findings in this case included marked thrombocytosis, basophilocytosis, absence of splenomegaly and a preceding history of untreated ankylosing spondylitis. Cytogenetic findings were compatible with the existence of the Ph1 chromosome in erythroid and megakaryocytic as well as granulocytic marrow precursors. This case illustrates the difficulties currently encountered in the clinical differentiation of myeloproliferative disorders and in interpreting the diagnostic significance of the Ph1 chromosome. The co-existence in this case of the Ph1 chromosome and elevated LAP does not support the concept of a direct relationship between Group G chromosomes and LAP activity.

scholarly journals Myeloproliferative Disease: An Unusual Cause of Raynaud’s Phenomenon and Digital Ischaemia

2016 ◽  
Vol 2016 ◽  
pp. 1-2 ◽  
Author(s):  
Celia Beynon ◽  
Gwenan Huws ◽  
Tom Lawson
Keyword(s):  
Platelet Count ◽  
Raynaud’S Phenomenon ◽  
Jak2 V617f ◽  
Myeloproliferative Disorders ◽  
Raynaud's Phenomenon ◽  
Doppler Imaging ◽  
Myeloproliferative Disease ◽  
Jak2 Mutation ◽  
History Of ◽  
Digital Ischaemia

We describe a 59-year-old female who presented with ischaemic digits, preceded by a 6-month history of Raynaud’s phenomenon affecting her fingers and toes. There were no clinical or laboratory features of primary vasculitis or connective tissue disease, Doppler imaging was normal, and bloods were unremarkable aside from a platelet count of 786 × 109/L (150–400) and white cells of 16 × 109/L (4–11). In view of the thrombocytosis a JAK2 mutation assay was requested which confirmed a JAK2 V617F mutation, suggesting essential thrombocytosis (ET) as the cause. She received treatment with hydroxycarbamide which normalised her platelet count and led to a complete resolution of her Raynaud’s symptoms. Raynaud’s phenomenon is a rare manifestation of ET. Myeloproliferative disorders such as ET should be considered in the differential diagnosis of Raynaud’s phenomenon and vasculitis.

Qualitative platelet defect and thrombohaemorrhagic complications in a patient with polycythaemia vera

2003 ◽  
Vol 23 (03) ◽  
pp. 138-143 ◽  
Author(s):  
D. Friess ◽  
B. Lämmle ◽  
L. Alberio
Keyword(s):  
Antiplatelet Agents ◽  
Clinical History ◽  
Myeloproliferative Disorders ◽  
Clinical Findings ◽  
Clear Correlation ◽  
Polycythaemia Vera ◽  
Laboratory Findings ◽  
Pathophysiological Mechanisms ◽  
Cytoreductive Treatment ◽  
History Of

SummaryWe describe a 67-year-old patient with polycythaemia vera and pathological functional platelet studies. He not only suffered a transient ischaemic attack despite taking of antiplatelet agents, but also showed bleeding diathesis with cerebral bleeding and spontaneous suffusions. Platelet function studies and clinical findings improved after phlebotomy and cytoreductive treatment with hydroxyurea.Thrombosis and haemorrhage account predominantly for morbidity and mortality in patients with polycythaemia vera. The pathophysiological mechanisms to explain thrombosis and bleeding in patients with myeloproliferative disorders including polycythaemia vera were intensively studied. However, up to now no clear correlation of laboratory findings in relation to clinical history of thrombosis and bleeding was demonstrated. In this report the most important pathophysiological mechanisms and therapy with antiplatelet agents are discussed.

Analysis of JAK2V617F and MPLW515L/K Mutation in 30 Patients with Early Stage Myeloproliferative Disease

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 5230-5230
Author(s):  
Ri Zhang ◽  
Zhen Fan ◽  
Xuhui Zhang ◽  
Hairong Fei
Keyword(s):  
Polycythemia Vera ◽  
Mononuclear Cells ◽  
Early Stage ◽  
Statistical Significance ◽  
Myeloproliferative Disorders ◽  
Jak2v617f Mutation ◽  
High Rate ◽  
Myeloproliferative Disease ◽  
History Of ◽  
Almost All

Abstract The classic Bcr-Abl negative myeloproliferative disorders (MPDs) comprise polycythemia vera (PV), essential thrombocythemia (ET), and idiopathic myelofibrosis (IMF). They are considered clonal stem cell disorders. Recently two acquired somatic mutations JAK2V617F and MPLW515L/K have been identified to play an important role in pathogenisis of MPDs. JAK2V617F was detected in almost all PV and nearly 50% in ET and IMF, and the MPLW515L/K mutation occured in only 1% and 4% in ET and IMF respectively. However it is interesting that there are some patients with slightly increased blood cells did not meet the criteria of PV and ET clinically. These early prefibrotic stages of MPDs are overlooked by both the Polycythemia Vera Study Group (PVSG) and the 2001 WHO criteria for the diagnosis of PV, ET and IMF. In order to investigate the prevalence of JAK2V617F and MPLW515L/K mutation in patients with early MPDs without a secondary cause, genomic DNA from bone marrow or blood mononuclear cells of 30 patients with early MPDs was screened by allele specific polymerase chain reaction (AS-PCR) for JAK2V617F and MPLW515L/K mutations and the history of thrombosis was assessed retrospectively by using patient files. Results showed that 14 out of 30 patients (46.7%) were positive for the JAK2V617F mutation, and none of them had the MPLW515L/K. Of the 14 patients with JAK2V617F mutation, a history of thrombosis was comfirmed in 5 patients(35.7%), while none of 16 patients with WT JAK2 had the thrombosis history. The average age of patients with the JAK2V617F mutation exceeded the patients with wild type JAK2(P<0.05), whereas there is no statistical significance on sexual Athe counts of white cell and the occurance of complications (thrombosis) between the patients with and without the JAK2V617F mutation. All the patients have been followed up since onset and 22 patients have available results. Among them, 12 patients with the burden of JAK2V617F turned out to be MPDs, however only 1 out of 10 patients without this mutation also evolved to MPDs. Our results suggest that JAK2V617F mutation can occur in a certain percentage of these early stage of MPDs patients and has help to diagnose early MPDs. Because these patients might have a high rate of complications, proper treatment of the MPD including aspirin and/or cytoreductive therapy is recommended in latent MPDs patients associated with the JAK2V617F mutation.

scholarly journals Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis

2021 ◽  
Author(s):  
Natalie Frede ◽  
Jessica Rojas-Restrepo ◽  
Andrés Caballero Garcia de Oteyza ◽  
Mary Buchta ◽  
Katrin Hübscher ◽  
...  
Keyword(s):  
Screening Method ◽  
Cost Effective ◽  
Illumina Miseq ◽  
Clinical Findings ◽  
Genetic Defects ◽  
Chronic Mucocutaneous Candidiasis ◽  
Mucocutaneous Candidiasis ◽  
Serious Infections ◽  
History Of ◽  
Panel Sequencing

AbstractHyper-IgE syndromes and chronic mucocutaneous candidiasis constitute rare primary immunodeficiency syndromes with an overlapping clinical phenotype. In recent years, a growing number of underlying genetic defects have been identified. To characterize the underlying genetic defects in a large international cohort of 275 patients, of whom 211 had been clinically diagnosed with hyper-IgE syndrome and 64 with chronic mucocutaneous candidiasis, targeted panel sequencing was performed, relying on Agilent HaloPlex and Illumina MiSeq technologies. The targeted panel sequencing approach allowed us to identify 87 (32 novel and 55 previously described) mutations in 78 patients, which generated a diagnostic success rate of 28.4%. Specifically, mutations in DOCK8 (26 patients), STAT3 (21), STAT1 (15), CARD9 (6), AIRE (3), IL17RA (2), SPINK5 (3), ZNF341 (2), CARMIL2/RLTPR (1), IL12RB1 (1), and WAS (1) have been detected. The most common clinical findings in this cohort were elevated IgE (81.5%), eczema (71.7%), and eosinophilia (62.9%). Regarding infections, 54.7% of patients had a history of radiologically proven pneumonia, and 28.3% have had other serious infections. History of fungal infection was noted in 53% of cases and skin abscesses in 52.9%. Skeletal or dental abnormalities were observed in 46.2% of patients with a characteristic face being the most commonly reported feature (23.1%), followed by retained primary teeth in 18.9% of patients. Targeted panel sequencing provides a cost-effective first-line genetic screening method which allows for the identification of mutations also in patients with atypical clinical presentations and should be routinely implemented in referral centers.

scholarly journals SAT0589 RISK FOR PSYCHIATRIC HOSPITALIZATION FOLLOWING A RHEUMA-RELATED HOSPITALIZATION: RESULTS FROM A CZECH NATIONWIDE, COHORT STUDY

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1253.2-1254
Author(s):  
T. Formánek ◽  
K. Mladá ◽  
M. Husakova
Keyword(s):  
Rheumatoid Arthritis ◽  
Cohort Study ◽  
Ankylosing Spondylitis ◽  
Rheumatic Disease ◽  
Rheumatic Diseases ◽  
Psychiatric Hospitalization ◽  
Population Based ◽  
Index Hospitalization ◽  
Increased Risk ◽  
History Of

Background:Cohort studies using nationwide health registers have shown an increased risk for affective and anxiety disorders in people with ankylosing spondylitis (AS) and rheumatoid arthritis (RA) (1-3). Moreover, a nationwide cohort study demonstrated an increased risk for mental disorders in people with rheumatic diseases (4).Objectives:We aimed to investigate the risk for psychiatric hospitalization following a hospitalization for rheumatic disease.Methods:Using data from the Czech nationwide register of all-cause hospitalizations, we obtained 4 971 individuals hospitalized (index hospitalization) between 2004 and 2012 for rheumatic diseases - RA, spondyloarthritis (including AS, psoriatic arthritis and undifferentiated spondyloarthritis), systemic lupus erythematosus and systemic sclerodermia, with no history of psychiatric and rheuma-related hospitalization in the previous 10 years from the index hospitalization. On these individuals, we randomly matched (on age, gender and year of index hospitalization) controls that were hospitalized in the same time period for a non-rheumatic disease and have no history of psychiatric and rheumatic hospitalization in the last 10 years from their index hospitalization, in the ratio of 1:5. We employed conditional logistic regression for assessing the risk for psychiatric hospitalization in the subsequent 3 years from the index hospitalization. To strengthen our results, we repeated the matching step 100 times and run the analysis on each resulting dataset separately, and pooled the results. The findings are expressed as odds ratios (OR) with 95% confidence intervals (95% CI).Results:We identified an elevated risk for psychiatric (OR = 1.34, 95% CI = 1; 1.78) and for affective disorders (OR = 2.19, 95% CI = 1.17; 4.1) in people hospitalized for rheumatic diseases. We did not find a statistically significant association with organic, psychotic and anxiety disorders.Conclusion:There is an increased risk for experiencing a psychiatric disorder in the period of 3 years after a rheuma-related hospitalization.References:[1]Shen C-C, Hu L-Y, Yang AC, Kuo BI-T, Chiang Y-Y, Tsai S-J. Risk of Psychiatric Disorders following Ankylosing Spondylitis: A Nationwide Population-based Retrospective Cohort Study. The Journal of Rheumatology. 2016;43(3).[2]Park J-S, Jang H-D, Hong J-Y, Park Y-S, Han K, Suh S-W, et al. Impact of ankylosing spondylitis on depression: a nationwide cohort study. Scientific Reports. 2019;9(1):6736.[3]Hsu C-C, Chen S-C, Liu C-J, Lu T, Shen C-C, Hu Y-W, et al. Rheumatoid Arthritis and the Risk of Bipolar Disorder: A Nationwide Population-Based Study. PLOS ONE. 2014;9(9).[4]Sundquist K, Li X, Hemminki K, Sundquist J. Subsequent Risk of Hospitalization for Neuropsychiatric Disorders in Patients With Rheumatic Diseases: A Nationwide Study From Sweden. Archives of General Psychiatry. 2008;65(5):501-7.Acknowledgments:Supported by the project (Ministry of Health Czech Republic) for conceptual development of research organization 00023728 (Institute of Rheumatology).Disclosure of Interests:Tomáš Formánek: None declared, Karolina Mladá: None declared, Marketa Husakova Speakers bureau: Novartis

scholarly journals Nucleotide Variation at theCHALCONE ISOMERASELocus inArabidopsis thaliana

Genetics ◽  
2000 ◽  
Vol 155 (2) ◽  
pp. 863-872 ◽  
Author(s):  
Helmi Kuittinen ◽  
Montserrat Aguadé
Keyword(s):  
Nucleotide Diversity ◽  
Direct Relationship ◽  
Selective Sweep ◽  
Balancing Selection ◽  
Neutral Theory ◽  
Low Frequency ◽  
The Other ◽  
Nucleotide Variation ◽  
Rapid Population Growth ◽  
History Of

AbstractAn ~1.9-kb region encompassing the CHI gene, which encodes chalcone isomerase, was sequenced in 24 worldwide ecotypes of Arabidopsis thaliana (L.) Heynh. and in 1 ecotype of A. lyrata ssp. petraea. There was no evidence for dimorphism at the CHI region. A minimum of three recombination events was inferred in the history of the sampled ecotypes of the highly selfing A. thaliana. The estimated nucleotide diversity (θTOTAL = 0.004, θSIL = 0.005) was on the lower part of the range of the corresponding estimates for other gene regions. The skewness of the frequency spectrum toward an excess of low-frequency polymorphisms, together with the bell-shaped distribution of pairwise nucleotide differences at CHI, suggests that A. thaliana has recently experienced a rapid population growth. Although this pattern could also be explained by a recent selective sweep at the studied region, results from the other studied loci and from an AFLP survey seem to support the expansion hypothesis. Comparison of silent polymorphism and divergence at the CHI region and at the Adh1 and ChiA revealed in some cases a significant deviation of the direct relationship predicted by the neutral theory, which would be compatible with balancing selection acting at the latter regions.

#37: Clinical Characterization of the Cases Relating to the Outbreak of Clostridioides difficile, in a Third-level Hospital in Mexico City: Diagnosis, Treatment, and Relay

2021 ◽  
Vol 10 (Supplement_1) ◽  
pp. S16-S16
Author(s):  
Ortiz Samuel ◽  
Martínez María Elena ◽  
Morayta Ramírez A
Keyword(s):  
Antibiotic Use ◽  
Clinical Findings ◽  
Prevention Measures ◽  
Clostridioides Difficile ◽  
Young Infants ◽  
Plastic Bags ◽  
History Of ◽  
Initial Episode ◽  
Group Sex ◽  
Healthcare Associated

Abstract Background Clostridioides difficile is an important cause of healthcare-associated infections. The epidemiology of C. difficile infection (CDI) in children has changed over the past few decades. There is now a higher incidence in hospitalized children, and there has been an emergence of community-onset infection. Neonates and young infants have high rates of colonization but rarely have symptoms. The well-known risk factor for CDI in children age 2 years or older is antibiotic use. Inflammatory bowel disease and cancer are associated with increased incidence and severity of CDI. Vancomycin or fidaxomicin is recommended for an initial episode of CDI. In environments where access to Vancomycin or Fidaxomycin is limited, it is suggested to use metronidazole for an initial episode of nonsevere CDI only. Methods A series of cases were carried out, in a study period from March to May 2018, total cases 8; the age group, sex, basic diagnosis, clinical findings, diagnostic method, and outcome in hospitalized patients in the Pediatric division of the “CMN 20 de Noviembre, ISSSTE” were described, where there is a total of 377 Sensitive beds, and 53 beds in the pediatric area of which 30 are not sensitive. Results We analyzed 8 cases of diarrhea with identification of C. difficile, in a period of 3 months, where there was a total of 148 admissions to the division of Pediatrics (100%) and presented a prevalence of 0.05% of the total income. Of those 8 cases reported, 37.5% were women and 62.5% men; The age fluctuated between 6 months and 18 years. All children had associated comorbidities. The frequency and type of comorbidities were Cancer 87.5% (Leukemias and Solid Tumors) and Neurological 12.5% ​​(Arterial Malformation and Neurological Sequelae). The main symptom that occurred was mucous diarrhea in 100% of patients, abdominal pain in 25% and evacuation with blood in 12.5% ​​of cases. All had a history of prior treatment with 100% broad-spectrum antibiotics, in a period of less than one month. All were treated with metronidazole (100%) and all presented clinical improvement, without complications; Similarly, all were diagnosed by PCR for toxin B (100%). The attributable risk of presenting Clostridioides disease in patients with Leukemia is 0.11. Conclusions Patients with Leukemia were the most affected during the C. difficile outbreak, of which 11 out of 100 of these patients are at risk of presenting C. difficile disease. The most important thing in these cases is prevention. Therefore, specific prevention measures were implemented to reduce the possibility of future outbreaks, such as handwashing with chlorexidine, contact isolation, handwashing every time there is contact with the patient, use of gloves when performing procedures, insulation of bedding in plastic bags and training of health personnel.

scholarly journals Serial Observations and Mutational Analysis of an Adoptee with Family History of Hypertrophic Cardiomyopathy

2010 ◽  
Vol 2010 ◽  
pp. 1-4
Author(s):  
Bronwyn Harris ◽  
Jean P. Pfotenhauer ◽  
Cheri A. Silverstein ◽  
Larry W. Markham ◽  
Kim Schafer ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hypertrophic Cardiomyopathy ◽  
Family History ◽  
Mutational Analysis ◽  
Clinical Findings ◽  
Dominant Mode ◽  
Natural Mother ◽  
History Of ◽  
In Cis ◽  
Inherited Cardiac Disease

Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disease with an autosomal dominant mode of transmission. Comprehensive genetic screening of several genes frequently found mutated in HCM is recommended for first-degree relatives of HCM patients. Genetic testing provides the means to identify those at risk of developing HCM and to institute measures to prevent sudden cardiac death (SCD). Here, we present an adoptee whose natural mother and maternal relatives were known be afflicted with HCM and SCD. The proband was followed closely from age 6 to 17 years, revealing a natural history of the progression of clinical findings associated with HCM. Genetic testing of the proband and her natural mother, who is affected by HCM, revealed that they were heterozygous for both the R719Q and T1513S variants in the cardiac beta-myosin heavy chain (MYH7) gene. The proband's ominous family history indicates that the combination of the R719Q and T1513S variantsin cismay be a “malignant” variant that imparts a poor prognosis in terms of the disease progression and SCD risk.

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