Low frequency of RAS and absence of FLT3-ITD gene mutations in patients with Myelodysplastic Syndromes in India: AIIMS experience

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e22231-e22231
Author(s):  
R. Chaubey ◽  
S. Sazawal ◽  
M. Mahapatra ◽  
R. Saxena
Keyword(s):  
Point Mutation ◽  
Chromosomal Abnormalities ◽  
Low Frequency ◽  
Gene Mutations ◽  
Diagnosis And Prognosis ◽  
Dna And Rna ◽  
Pcr Rflp ◽  
The Mean ◽  
Length Mutations

e22231 Background: Chromosomal abnormalities and molecular detection has potential importance for diagnosis and prognosis of MDS, although the mechanisms underlying the development of MDS and their progressive evolution to AML are still largely unknown. Since, no studies have been reported from India on the prevalence of N-RAS, K- RAS point mutation in codon 12 and FLT3-ITD mutations in patients with MDS, we undertook this study. Methods: DNA and RNA were extracted from bone marrow /peripheral blood. Using RT-PCR the patients were screened for length mutations in FLT3 gene. PCR-RFLP and nested PCR-RFLP were used for the detection of point mutation in codon 12 of N-RAS and K-RAS. Results: A total of 53 patients (median age 39 yrs, range 9–78yrs; M: F 2:1; median TLC-3.9×109/l, range 0.8–116 ×109/l Median platelet count- 87 ×109/l, range 1–349 ×109/l, Median hemoglobin -6.8 g/dl, range 2.7- 16.1 g/dl, were studied. One out of 53 patients (2%) was found positive for N-RAS and four patients were positive for K-RAS (8%) mutation. FLT3-ITD mutation was studied in 47 patients; all the patients were found negative. The mean observation of all the patients was 30 months and the median overall survival was 28 months. Nine patients died during follow up. The presence of N-RAS codon 12 mutation was associated with the poor survival. FLT3-ITD mutation was not observed in any of our cases, which is in contrast to 3% reported from the West. Conclusions: Thus, it appears that the RAS and FLT3 mutations are uncommon in MDS patients in India. No significant financial relationships to disclose.

scholarly journals Cytogenetic as an Important Tool for Diagnosis and Prognosis for Patients with Hypocellular Primary Myelodysplastic Syndrome

2014 ◽  
Vol 2014 ◽  
pp. 1-10 ◽  
Author(s):  
Daiane Corrêa de Souza ◽  
Cecília de Souza Fernandez ◽  
Adriana Camargo ◽  
Alexandre Gustavo Apa ◽  
Elaine Sobral da Costa ◽  
...  
Keyword(s):  
Clinical Decision Making ◽  
Chromosomal Abnormalities ◽  
Critical Role ◽  
Clinical Decision ◽  
High Association ◽  
Score System ◽  
Diagnosis And Prognosis ◽  
Group 2 ◽  
Group 1

We analyzed cytogenetically 105 patients with hypocellular primary MDS and their clinical implications. The main chromosomal abnormalities found were del(5q)/−5, del(6q)/+6, del(7q)/−7, del(11q), and del(17p). Pediatric patients had a higher frequency of abnormal karyotypes compared with adult patients (P< 0,05). From our patients, 18% showed evolution of the disease. The chromosomal abnormalities presented in the diagnosis of patients who evolved to AML included numerical (−7, +8) and structural del(6q), del(7q), i(7q), t(7;9), i(9q), and del(11q) abnormalities and complex karyotypes. Although the frequency of evolution from hypocellular MDS to AML is low, our results suggest that some chromosomal alterations may play a critical role during this process. We applied the IPSS in our patients because this score system has been proved to be useful for predicting evolution of disease. When we considered the patients according to group 1 (intermediate-1) and group 2 (intermediate-2 and high risk), we showed that group 2 had a high association with respect to the frequency of abnormal karyotypes (P< 0,0001), evolution of disease (P< 0,0001), and mortality (P< 0,001). In fact, the cytogenetic analysis for patients with hypocellular primary MDS is an important tool for diagnosis, prognosis, in clinical decision-making and in follow-up.

scholarly journals Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families

2017 ◽  
Vol 118 (2-3) ◽  
pp. 87-94
Author(s):  
Karel Medek ◽  
Jiří Zeman ◽  
Tomáš Honzík ◽  
Hana Hansíková ◽  
Štěpánka Švecová ◽  
...  
Keyword(s):  
Malignant Transformation ◽  
De Novo ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Gene Mutations ◽  
Nonsense Mutations ◽  
Hereditary Multiple Exostoses ◽  
Multiple Exostoses ◽  
The Mean

Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations inEXT1andEXT2genes with autosomal dominant inheritance are responsible for HME. In our group of 9 families with HME we evaluated the clinical course of the disease and analysed molecular background using Sanger sequencing and MLPA inEXT1andEXT2genes. The mean age in our group of patients, when the first exostosis was recognised was 4.5 years (range 2–10 years) and the number of exostoses per one patient documented on X-ray ranged from 2 to 54. Most of the exostoses developed before the growth was completed and they were dominantly localised in the distal femurs, proximal tibia, proximal humerus and distal radius. In all patients, at least one to 8 surgeries were necessary due to complaints and local complications, but neither patient developed malignant transformation. In half of the patients, the disease resulted in short stature. DNA analyses were positive in 7 families. In five probands, differentEXT1gene mutations resulting in premature stop-codon (p.Gly124Argfs*65, p.Leu191*, p.Trp364Lysfs*11, p.Val371Glyfs*10, p.Leu490Profs*31) were found. In two probands, nonsense mutations were found inEXT2gene (p.Val187Profs*115, p.Cys319fs*46). Five mutations have been novel and two mutations have occurredde novoin probands. Although the risk for malignant transformation is usually low, especially in patients with low number of exostoses, early diagnostics and longitudinal follow up of patients is of a big importance, because early surgery can prevent progression of secondary bone deformities.

scholarly journals Chromosomal Abnormalities Associated With Local Recurrence or Pulmonary Metastasis of Giant Cell Tumor of Bone in Thai Adults: A Prospective Cohort Study With 6 Years of Follow-Up

2021 ◽  
Author(s):  
Pakpoom Ruangsomboon ◽  
Worapa Heepchantree ◽  
Pissanu Reingrittha ◽  
Saranatra Waikakul ◽  
Rapin Phimolsarnti
Keyword(s):  
Cohort Study ◽  
Local Recurrence ◽  
Giant Cell Tumor ◽  
Pulmonary Metastasis ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Cell Tumor ◽  
Abnormal Cells ◽  
The Mean

Abstract Background: Giant cell tumor (GCT) of bone demonstrates chromosomal abnormalities. This study aimed to investigate the prognostic role of chromosomal abnormalities of primary GCT of bone relative to local recurrence or pulmonary metastasis.Methods: This prospective longitudinal cohort study with 6 years of follow-up included consecutive patients with primary GCT of bone that were surgically treated during 2011 to 2013 at the Department of Orthopaedic Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. All patients underwent surgical resection with extended intralesional curettage and phenol local adjuvant therapy. Systematic cytogenetic analysis compared cytogenetic abnormalities between patients with and without local recurrence or pulmonary metastasis. Fifteen patients were eligible, enrolled, and had successful cytogenetic analysis.Results: The median follow-up time was 46 months (interquartile range [IQR]: 32-58). Five patients experienced local recurrence or pulmonary metastasis with a median time to recurrence of 6 months (IQR: 3.25-10.5). The mean number of abnormal cells in the primary culture compared between those with local recurrence or pulmonary metastasis and those without was 24.4 vs. 9.6 cells, respectively (p=0.04). A similar pattern was observed in the cultures of the subsequent four passages (all p<0.05). Forty-five patterns of clonal telomeric association (tas) were observed in passaged cultures. Six tas patterns were associated with local recurrence or pulmonary metastasis, including tas(11;19)(p15;q13.4), tas(15;19)(q26.3;q13.4), tas(15;22)(p13;p13), tas(16;19)(p13.3;q13.4), tas(17;19)(p13;q13.4), and tas(19;22)(q13.4;q13).Conclusions: The mean number of abnormal cells and the six identified TAS patterns may be valuable prognostic factors for local recurrence or pulmonary metastasis of GCT tumor of bone.

scholarly journals Usefulness of Two Independent DNA and RNA Tissue-Based Multiplex Assays for the Routine Care of Advanced NSCLC Patients

Cancers ◽  
2020 ◽  
Vol 12 (5) ◽  
pp. 1124 ◽  
Author(s):  
Elba Marin ◽  
Cristina Teixido ◽  
Elena Carmona-Rocha ◽  
Roxana Reyes ◽  
Ainara Arcocha ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Median Overall Survival ◽  
Advanced Nsclc ◽  
Gene Mutations ◽  
Routine Care ◽  
Molecular Testing ◽  
Cancer Management ◽  
Dna And Rna ◽  
Nsclc Patients

Personalized medicine is nowadays a paradigm in lung cancer management, offering important benefits to patients. This study aimed to test the feasibility and utility of embedding two multiplexed genomic platforms as the routine workup of advanced non-squamous non-small cell lung cancer (NSCLC) patients. Two parallel multiplexed approaches were performed based on DNA sequencing and direct digital detection of RNA with nCounter® technology to evaluate gene mutations and fusions. The results were used to guide genotype-directed therapies and patient outcomes were collected. A total of 224 advanced non-squamous NSCLC patients were prospectively included in the study. Overall, 85% of samples were successfully characterized at DNA and RNA levels and oncogenic drivers were found in 68% of patients, with KRAS, EGFR, METΔex14, BRAF, and ALK being the most frequent (31%, 19%, 5%, 4%, and 4%, respectively). Among all patients with complete genotyping results and follow-up data (n = 156), the median overall survival (OS) was 1.90 years (confidence interval (CI) 95% 1.69–2.10) for individuals harbouring an actionable driver treated with a matched therapy, compared with 0.59 years (CI 95% 0.39–0.79) in those not eligible for any targeted therapy and 0.61 years (CI 95% 0.12–1.10) in patients with no drivers identified (p < 0.001). Integrating DNA and RNA multiplexing technologies into the routine molecular testing of advanced NSCLC patients is feasible and useful and highlights the necessity of widespread integrating comprehensive molecular diagnosis into lung cancer care.

Chromosomal Aberration for Diagnosis and Prognosis of Acute Myeloid Leukemia Iraqi Patients

2021 ◽  
Vol 19 (6) ◽  
pp. 115-121
Author(s):  
Amal M. Ali ◽  
Shahlaa M Salih
Keyword(s):  
Acute Myeloid Leukemia ◽  
Chromosomal Aberrations ◽  
Myeloid Leukemia ◽  
Chromosomal Abnormalities ◽  
Gene Mutations ◽  
Newly Diagnosed ◽  
High Complexity ◽  
Diagnosis And Prognosis ◽  
Chromosomal Changes ◽  
Acute Myeloid

Background: Acute myeloid leukemia (AML) is a hematopoietic disorder in which there are too many immature blood-forming cells accumulating in the bone marrow and interfering with the production of normal blood cells. It has long been recognized that AML is a clinically heterogeneous disease characterized by a multitude of chromosomal abnormalities and gene mutations, which translate to marked differences in responses and survival following chemotherapy. This study aimed to clarify the chromosomal aberrations in early diagnosed and relapsed cases of AML. Materials and methods: Chromosomal changes were studied in thirty Iraqi patient samples diagnosed with acute myeloid leukemia were divided into 9 newly diagnosed and 13 received chemotherapy who were incomplete remission and 8 relapsed subjects. Results: Analysis of all chromosomal aberrations showed complex karyotype for most cells of relapsed AML patients compared with newly diagnosed patients. Conclusions: Chromosomal abnormalities are linked to AML development and high complexity of karyotyping for relapsed group.

The Prognosis of Depression in Old Age

1989 ◽  
Vol 1 (2) ◽  
pp. 119-133 ◽  
Author(s):  
Sirkka-Liisa Kivelä ◽  
Kimmo Pahkala
Keyword(s):  
Epidemiological Study ◽  
Social Participation ◽  
Low Frequency ◽  
Dysthymic Disorder ◽  
Poor Outcome ◽  
Women Poor ◽  
The Mean ◽  
Loss Of Libido ◽  
Insight Into

A prospective follow-up of depressed elderly patients is described. The subjects, 91 men and 173 women aged 60 years or over, were diagnosed as depressed in an epidemiological study using the DSM-III criteria. One hundred ninety-nine patients suffered from dysthymic disorder. The mean duration of the follow-up was 14.9 ± 4.3 months. Outcome was not associated with sex and was good in 41% of the cases. In men, poor outcome was associated with low social participation, low frequency of visiting contacts, and poor insight into the depressive disorder. In women, poor outcome was associated with multiple depressive symptoms, depression diagnosed previous to this study, not living alone, low social participation, low self-perceived health, diurnal variation of symptoms, and the occurrence of initial insomnia, loss of libido, and hypochondriacal and compulsive symptoms. Many similarities were found in factors associated with outcome between all depressed patients and the patients whose depression was diagnosed during our epidemiological study.

Sound Production Treatment for Acquired Apraxia of Speech: An Examination of Dosage in Relation to Probe Performance

2020 ◽  
pp. 1-16
Author(s):  
Julie L. Wambaugh ◽  
Lydia Kallhoff ◽  
Christina Nessler
Keyword(s):  
Retrospective Analysis ◽  
Sound Production ◽  
Apraxia Of Speech ◽  
Practice Schedule ◽  
Practice Schedules ◽  
Baseline Performance ◽  
The Mean ◽  
Number Of Treatment ◽  
The Impact

Purpose This study was designed to examine the association of dosage and effects of Sound Production Treatment (SPT) for acquired apraxia of speech. Method Treatment logs and probe data from 20 speakers with apraxia of speech and aphasia were submitted to a retrospective analysis. The number of treatment sessions and teaching episodes was examined relative to (a) change in articulation accuracy above baseline performance, (b) mastery of production, and (c) maintenance. The impact of practice schedule (SPT-Blocked vs. SPT-Random) was also examined. Results The average number of treatment sessions conducted prior to change was 5.4 for SPT-Blocked and 3.9 for SPT-Random. The mean number of teaching episodes preceding change was 334 for SPT-Blocked and 179 for SPT-Random. Mastery occurred within an average of 13.7 sessions (1,252 teaching episodes) and 12.4 sessions (1,082 teaching episodes) for SPT-Blocked and SPT-Random, respectively. Comparisons of dosage metric values across practice schedules did not reveal substantial differences. Significant negative correlations were found between follow-up probe performance and the dosage metrics. Conclusions Only a few treatment sessions were needed to achieve initial positive changes in articulation, with mastery occurring within 12–14 sessions for the majority of participants. Earlier occurrence of change or mastery was associated with better follow-up performance. Supplemental Material https://doi.org/10.23641/asha.12592190

Drug-eluting stents for treatment of focal infrapopliteal lesions

VASA ◽  
2012 ◽  
Vol 41 (2) ◽  
pp. 90-95 ◽  
Author(s):  
Rastan ◽  
Noory ◽  
Zeller
Keyword(s):  
Limb Salvage ◽  
Bare Metal Stents ◽  
Target Lesion ◽  
Drug Eluting Stents ◽  
Metal Stents ◽  
Target Lesion Revascularisation ◽  
Randomized Studies ◽  
Drug Eluting ◽  
The Mean

We have investigated the role of drug-eluting stents on patency rates after treatment of focal infrapopliteal lesions in patients with intermittent claudication and critical limb ischemia. Reports indicate that drug-eluting stents reduce the risk of restenosis after percutaneous infrapopliteal artery revascularization. A Pub Med, EMBASE, Cochrane database review search of non-randomized studies investigating patency rates, target lesion revascularisation rates, limb salvage rates and mortality rates in an up to 3-year follow-up period after drug-eluting stent placement was conducted. In addition, preliminary results of randomized studies comparing drug-eluting stents with bare-metal stents and plain balloon angioplasty in treatment of focal infrapopliteal lesions were included in this review. A total of 1039 patients from 10 non-randomized and randomized studies were included. Most commonly used drug-eluting stents were sirolimus-eluting. The mean follow-up period was 12.6 (range 8 - 24). The mean 1-year primary patency rate was 86 ± 5 %. The mean target lesion revascularization rate and limb salvage rate was 9.9 ± 5 % and 96.6 %±4 %, respectively. Results from non-randomized and preliminary results from prospective, randomized trials show a significant advantage for drug-eluting stents in comparison to plain balloon angioplasty and bare-metal stents concerning target lesion patency and in parts target lesion revascularisation. No trial reveals an advantage for drug-eluting stents with regard to limb salvage and mortality.

Pilonidal Sinus: How to Choose Between Excision and Open Granulation Versus Excision and Primary Closure?

Swiss Surgery ◽  
2002 ◽  
Vol 8 (6) ◽  
pp. 255-258 ◽  
Author(s):  
Perruchoud ◽  
Vuilleumier ◽  
Givel
Keyword(s):  
Hospital Stay ◽  
Pilonidal Sinus ◽  
Primary Closure ◽  
Average Length ◽  
Length Of Hospital Stay ◽  
Healing Time ◽  
Incision And Drainage ◽  
The Mean ◽  
Primary Healing

Aims: The purpose of this study was to evaluate excision and open granulation versus excision and primary closure as treatments for pilonidal sinus. Subjects and methods: We evaluated a group of 141 patients operated on for a pilonidal sinus between 1991 and 1995. Ninety patients were treated by excision and open granulation, 34 patients by excision and primary closure and 17 patients by incision and drainage, as a unique treatment of an infected pilonidal sinus. Results: The first group, receiving treatment of excision and open granulation, experienced the following outcomes: average length of hospital stay, four days; average healing time; 72 days; average number of post-operative ambulatory visits, 40; average off-work delay, 38 days; and average follow-up time, 43 months. There were five recurrences (6%) in this group during the follow-up period. For the second group treated by excision and primary closure, the corresponding outcome measurements were as follows: average length of hospital stay, four days; average healing time, 23 days; primary healing failure rate, 9%; average number of post-operative ambulatory visits, 6; average off-work delay, 21 days. The average follow-up time was 34 months, and two recurrences (6%) were observed during the follow-up period. In the third group, seventeen patients benefited from an incision and drainage as unique treatment. The mean follow-up was 37 months. Five recurrences (29%) were noticed, requiring a new operation in all the cases. Discussion and conclusion: This series of 141 patients is too limited to permit final conclusions to be drawn concerning significant advantages of one form of treatment compared to the other. Nevertheless, primary closure offers the advantages of quicker healing time, fewer post-operative visits and shorter time off work. When a primary closure can be carried out, it should be routinely considered for socio-economical and comfort reasons.

Comparison of Fluorine(18)-fluorodeoxyglucose and Gallium(68)-citrate PET/CT in patients with tuberculosis

2019 ◽  
Vol 58 (05) ◽  
pp. 371-378
Author(s):  
Alfred O. Ankrah ◽  
Ismaheel O. Lawal ◽  
Tebatso M.G. Boshomane ◽  
Hans C. Klein ◽  
Thomas Ebenhan ◽  
...  
Keyword(s):  
Tracer Uptake ◽  
Pet Ct ◽  
The Mean ◽  
18F Fdg ◽  
Definition Of ◽  
Gallium 68 ◽  
Attending Physician ◽  
Pet Scans ◽  
The Brain

Abstract 18F-FDG and 68Ga-citrate PET/CT have both been shown to be useful in the management of tuberculosis (TB). We compared the abnormal PET findings of 18F-FDG- and 68Ga-citrate-PET/CT in patients with TB. Methods Patients with TB on anti-TB therapy were included. Patients had a set of PET scans consisting of both 18F-FDG and 68Ga-citrate. Abnormal lesions were identified, and the two sets of scans were compared. The scan findings were correlated to the clinical data as provided by the attending physician. Results 46 PET/CT scans were performed in 18 patients, 11 (61 %) were female, and the mean age was 35.7 ± 13.5 years. Five patients also had both studies for follow-up reasons during the use of anti-TB therapy. Thirteen patients were co-infected with HIV. 18F-FDG detected more lesions than 68Ga-citrate (261 vs. 166, p < 0.0001). 68Ga-citrate showed a better definition of intracerebral lesions due to the absence of tracer uptake in the brain. The mean SUVmax was higher for 18F-FDG compared to 68Ga-citrate (5.73 vs. 3.01, p < 0.0001). We found a significant correlation between the SUVmax of lesions that were determined by both tracers (r = 0.4968, p < 0.0001). Conclusion Preliminary data shows 18F-FDG-PET detects more abnormal lesions in TB compared to 68Ga-citrate. However, 68Ga-citrate has better lesion definition in the brain and is therefore especially useful when intracranial TB is suspected.

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