scholarly journals Pretreatment Parameters Obtained from Peripheral Blood Sample Predicts Invasiveness of Bladder Carcinoma

2012 ◽  
Vol 89 (4) ◽  
pp. 468-472 ◽  
Author(s):  
C. Can ◽  
B. Baseskioglu ◽  
M. Yılmaz ◽  
E. Colak ◽  
A. Ozen ◽  
...  
Keyword(s):  
Blood Sample ◽  
Bladder Carcinoma ◽  
Peripheral Blood ◽  
Peripheral Blood Sample

scholarly journals Autologous Blood Vessels Engineered from Peripheral Blood Sample

2007 ◽  
Vol 45 (1) ◽  
pp. 220
Author(s):  
T. Aper ◽  
A. Schmidt ◽  
M. Duchrow ◽  
H.-P. Bruch
Keyword(s):  
Blood Sample ◽  
Blood Vessels ◽  
Peripheral Blood ◽  
Autologous Blood ◽  
Peripheral Blood Sample

scholarly journals A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Hao Geng ◽  
Dongdong Tang ◽  
Chuan Xu ◽  
Xiaojin He ◽  
Zhiguo Zhang
Keyword(s):  
Blood Sample ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Peripheral Blood ◽  
Sanger Sequencing ◽  
Missense Variant ◽  
Chinese Family ◽  
Peripheral Blood Sample ◽  
Whole Exome ◽  
Novel Variant

Background. Split-hand/foot malformation (SHFM) is a severe congenital disability mainly characterized by the absence or hypoplasia of the central ray of the hand/foot. To date, several candidate genes associated with SHFM have been identified, including TP63, DLX5, DLX6, FGFR1, and WNT10B. Herein, we report a novel variant of TP63 heterozygously present in affected members of a family with SHFM. Methods. This study investigated a Chinese family, in which the proband and his son suffered from SHFM. The peripheral blood sample of the proband was used to perform whole-exome sequencing (WES) to explore the possible genetic causes of this disease. Postsequencing bioinformatic analyses and Sanger sequencing were conducted to verify the identified variants and parental origins on all family members in the pedigree. Results. By postsequencing bioinformatic analyses and Sanger sequencing, we identified a novel missense variant (NM_003722.4:c.948G>A; p.Met316Ile) of TP63 in this family that results in a substitution of methionine with isoleucine, which is probably associated with the occurrence of SHFM. Conclusion. A novel missense variant (NM_003722.4:c.948G>A; p.Met316Ile) of TP63 in SHFM was thus identified, which may enlarge the spectrum of known TP63 variants and also provide new approaches for genetic counselling of families with SHFM.

scholarly journals Clinical and Cytogenomic Features of Lymphoblastic Leukemia with Intrachromosomal Amplification of Chromosome 21 (iAMP21) in the Context of Constitutional Ring Chromosome 21

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 5208-5208
Author(s):  
Tatiana Tvrdik ◽  
Kristian T. Schafernak ◽  
Jeffrey R Jacobsen ◽  
Reha Toydemir ◽  
Alexandra M Walsh ◽  
...  
Keyword(s):  
Bone Marrow ◽  
High Risk ◽  
Blood Sample ◽  
Peripheral Blood ◽  
Lymphoblastic Leukemia ◽  
Chromosome Analysis ◽  
Chromosome 21 ◽  
Terminal Deletion ◽  
Peripheral Blood Sample ◽  
Genomic Microarray

Constitutional ring chromosome 21, r(21)c, is a rare chromosome abnormality associated with variable clinical features that range from mild dysmorphism to severe congenital anomalies and intellectual disability. Recently, r(21)c has been reported to predispose to B-cell acute lymphoblastic leukemia (B-ALL) with intrachromosomal amplification of chromosome 21 (iAMP21), a distinct subgroup of high-risk pediatric B-ALL. Only a few iAMP21-B-ALL cases with r(21)c have been reported to date. The mechanism of leukemogenesis of r(21)c has not been entirely elucidated. Here we report an 11-year-old boy with iAMP21-B-ALL carrying an atypical r(21)c. The patient has a history of attention-deficit/hyperactivity disorder, sensorineural hearing loss s/p cochlear implant, intellectual disability and scoliosis. Three months before admission he developed a soft tissue nodule on the occipital scalp deemed to possibly represent an enlarged lymph node. Subsequently, he presented with spontaneous bruising followed by severe epistaxis. The initial CBC showed a white blood cell count of 4.3K/uL with circulating blasts, absolute neutropenia, profound normocytic normochromic anemia (hemoglobin of 5.2 g/dL), and marked thrombocytopenia (platelets, 12K/uL ). Peripheral blood flow cytometry showed 17.9% phenotypically abnormal B lymphoblasts which were negative for CD45, and positive for CD34, nuclear TdT, CD19, CD22, CD79a, CD10, HLA-DR , as well as CD20 (21% positive). The bone marrow aspirate contained 98% blasts. CNS status was 2a (RBC 0, WBC 0, 8% blasts) and clear after the second lumbar puncture. Fine-needle aspiration of the scalp mass demonstrated B-lymphoblastic leukemia/lymphoma. The patient was treated per COG protocol AALL1131 and was assigned to the very high-risk arm when bone marrow interphase FISH showed iAMP21. The chromosome analysis failed to yield metaphase cells on the diagnostic bone marrow sample. A concurrent genomic microarray showed chromothripsis with multiple non-contiguous losses and high copy gains on 21q involving the RUNX1 gene, as well as mosaic deletions within 7q22.3q36.3, 9p24.3p24.1 (including JAK2), 12q12 (several exons of ARID2), 13q14.2q21.2 (RB1, DLEU1/2/7, miR-15a/miR-16-1 cluster), 14q32.33 (IGH locus), 19p13.2 (several exons of the SMARCA4), and mosaic gains within 3q22.3q29 and Xp22.33p11.3. Day 29 end of induction bone marrow examination was positive for minimal residual disease (MRD) at 0.13% of nucleated mononuclear cells, but FISH was negative for iAMP21. On day 57 of consolidation, the bone marrow was negative for both MRD and iAMP21. However, chromosome analysis on both of these follow-up studies showed an abnormal chromosome 21. Chromosome analysis on peripheral blood lymphocytes confirmed the presence of a constitutional r(21). A subsequent genomic microarray analysis on peripheral blood sample did not show chromothripsis observed in the diagnostic bone marrow sample, but showed a 4.7 Mb terminal deletion and two interstitial deletions (3.0 Mb and 5.5 Mb) on the long arm of chromosome 21. These findings are consistent with a r(21) with interstitial deletions, which is likely responsible for the congenital anomalies reported in this patient. iAMP21 is associated with a poor outcome in B-ALL. Accurate detection of iAMP21 is critical for risk stratification and treatment in B-ALL. The strong association between iAMP21 and r(21)c has been proposed based on previous studies on r(21)c carriers with iAMP21-ALL. Our data further support an increased risk of developing iAMP21-ALL in carriers of constitutional r(21) and demonstrate the value of intensive treatment on iAMP21-B-ALL. The r(21) observed in this patient contains a relatively larger (4.7 Mb) terminal deletion along with two additional interstitial deletions. Due to the scarcity of r(21)c, the pathogenetic mechanisms of this leukemic process is not fully understood, and the clinical significance of loss of additional genetic content is unknown. More case reports are needed to generate more comprehensive clinical and genetic profile for this high risk ALL. Figure 1. Genomic microarray findings on diagnostic bone marrow sample (top) and the follow up peripheral blood sample (bottom). Chromothripsis and amplification were observed only in the diagnostic bone marrow specimen, whereas the peripheral blood sample in remission showed two interstitial and a terminal deletion. Figure 1 Disclosures No relevant conflicts of interest to declare.

Lower Volume Peripheral Blood Sample Collection: Key Considerations for Nurses - Roundtable Discussion

2011 ◽  
Vol 16 (3) ◽  
pp. 150-154 ◽  
Author(s):  
Leigh Ann Bowe-Geddes
Keyword(s):  
Blood Sample ◽  
Peripheral Blood ◽  
Standard Of Care ◽  
Venous Access ◽  
The United States ◽  
Peripheral Blood Sample ◽  
Sample Collection ◽  
Group Of Seven ◽  
Clinical Case Study ◽  
Lower Volume

Abstract A group of seven nurses from a range of laboratory and hospital settings across the United States were invited to present opinions and clinical case study examples that reflect the key considerations in peripheral blood sample collection involving lower volume samples and patients affected by difficult venous access (DVA). Panelists were asked to review and compare prevailing standard operating procedures (SOPs) in sample collection and challenges in efforts to expand the use of lower volume sample collection and processing. The discussion identified achievable goals to improve standard of care in lower volume blood sample collection and the treatment of DVA patients.

Detection of the JAK2 Gene Mutation in Familial Myeloproliferative Disorders and Significance in Chinese Peoples

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 5263-5263
Author(s):  
Ru Feng ◽  
Yongmin Zhang ◽  
Yongqiang Wei ◽  
Yu Zhan
Keyword(s):  
Blood Sample ◽  
Gene Mutation ◽  
Peripheral Blood ◽  
Family Members ◽  
Myeloproliferative Disorders ◽  
Jak2v617f Mutation ◽  
Peripheral Blood Sample ◽  
Pcr Product ◽  
The Family ◽  
The Way

Abstract Myeloproliferative disorders (MPDs) constitute a group of hematopoietic malignancies. Most of the MPD patient are sporadic and there are seldom reports in familial MPD. Present studies indicated that the excessus activation of signal transduction pathway of protein tyrosine kinase is an important factor in the pathogenesy of MPD. At present, except the CML, the other kinds of Ph-negative MPD are still unclear for pathogenesis. A new acquired mutation-JAK2V617F on JAK2 gene has been discovered successively in most of PV and in part of ET and IMF patient by scholars. Studies also discover that JAK2V617F mutation exists not only in the sporadic MPD but also in the familial MPD. Now only a few of studies has focus on the familial MPD abroad, and no report about JAK2V617F mutation in familial MPD chinese poeple. Methods: We mainly collected peripheral blood sample from the family members including the two MPD patients, then we took a routine blood count test and flow cytometry analysis (including CD34, CD41, CD61, CD71, CD117, GPA. Inspection of the BM smear and pathology of BM biopsy is taken when is necessary. we collected all the nucleated cells from the peripheral blood sample and then the DNA from the nucleated cells were extracted. We design a specific primer which is specific for codon V617 of the JAK2 gene according to the reference, and then amplify the target gene by PCR and confirm the PCR product by the way of electrophoresis, we use the restriction enzyme to digest the PCR product after purification. We detect another acquired functionality gene mutation (MPLW515L/K) to the ET and IMF patient who are JAK2V617F negative by the way of PCR and DNA sequencing. we also evaluated the specific markers that had been found in familial ET such as TPO and c-mpl gene mutation by the way of DNA sequence analysis for all of the member in the family, especially the ET patient and his children. An research to detect the EPOR gene mutation on the family members especially for the PV patient and his children was carried. Results: In summary, we found that many of the members are abnormal in routine blood test besides the two MPD patient, and some of them surpass the normal level. Of the member whose PLT count is much higher than normal count was also found abnormal in cell surface antigen expression, and we diagnosis it as the third MPD(ET) patient in this family combining with the result of BM cell morphologyand pathology of BM biopsy. There were total three members carried the JAK2V617F mutation in this family, including the two MPD patient and the father whose WBC count is higher than normal but without any clinical manifestation. We also found that all members who carried the JAK2V617F mutation are male, and affected in two generation of the family. Another female member whose PLT count is obviously higher than normal with JAK2V617F negative was diagnosised as JAK2V617F negative ET. Other common markers of MPD such as MPLW515L/K in JAK2V617F negative ET and TPO, c-mpl gene mutation in familial ET and EPOR gene in familial erythrocytosis could not being found in this family. Conclusion: According to the results of our study, we found that an hereditary susceptibility may exits in this family which make the members in the family easier to development into MPD, and it is necessary to take carry an regular blood routine test and other related inspection for the family member. Our study hold on an investigation and an research in a familial MPD member for reach a goal of better understanding about JAK2V617F mutation frequency and Other common markers of MPD(sporadic MPD but also familial MPD) such as MPLW515L/K, TPO, c-mp, EPOR in this family and the role of those mutation in the pathogenesy in familial MPD, we provide some theory basis to further expounding of the pathogenesis and treatment in Ph- MPD, specially in discovering, diagnosis and prevention for the disease at a early stage. No research about the JAK2V617F mutation in familial MPD at present in chinese people, Therefore, our research is in advanced in domestic study.

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