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  1. Article ; Online: Diagnostic Significance Of Bone Marrow Examination Amongst The Patients With Abnormal Haematological Parameters.

    Bashir, Saima / Akhtar, Fahim / Salim, Misbah / Arshad, Maham / Khan, Zahra Tasleem / Akhtar, Farhan

    Journal of Ayub Medical College, Abbottabad : JAMC

    2024  Volume 35, Issue 4, Page(s) 619–622

    Abstract: Background: Bone Marrow examination is considered to be the most indispensable diagnostic tool for the evaluation of many neoplastic and non-neoplastic haematological disorders. After an initial assessment of suspicious cases on abnormal laboratory ... ...

    Abstract Background: Bone Marrow examination is considered to be the most indispensable diagnostic tool for the evaluation of many neoplastic and non-neoplastic haematological disorders. After an initial assessment of suspicious cases on abnormal laboratory parameters along with the clinical presentation of the patient marrow examination is finally required for diagnosis as well as management of many haematological malignancies as it offers a clear cytological as well as histological picture of Bone Marrow aspirate and biopsy respectively. The Objective was to evaluate the significance of Bone Marrow examination in patients with abnormal haematological parameters.
    Methods: A retrospective study conducted at the Pathology Department of Pak Emirates Military Hospital from (Jan-June 2022) On data from150 patients who were advised to undergo bone marrow examination due to abnormal lab parameters and peripheral smear findings after informed consent and approval from the ethics review committee, to find out the correlation of abnormal haematological parameters and aspirate findings which have led to a definitive diagnosis. Data comprising basic demographic variables (age, gender etc.), Abnormal Haematological Parameters (CBC), peripheral smear findings and Aspirate findings were analyzed using SPSS version 23.0.
    Results: Out of 150 studied participants with abnormal haematological parameters 24 (16%) were diagnosed on bone marrow examination as acute leukaemia / Hodgkin's and Non-Hodgkin's lymphoma respectively, 13 (9%) cases of aplastic anaemia and Autoimmune HaemolyticAnaemia, 33 (22%)cases of hypersplenism, CML and multiple myeloma. While 22 (15%) cases were diagnosed with BME as CKD and reactive changes. Moreover, 22(15%) cases were found to have Iron Deficiency anaemia respectively.
    Conclusions: The study revealed that patients with abnormal haematological parameters should undergo bone marrow examination to ascertain the diagnosis for malignant as well as non-malignant conditions that could cause abnormal lab parameters.
    MeSH term(s) Humans ; Bone Marrow Examination ; Retrospective Studies ; Bone Marrow/pathology
    Language English
    Publishing date 2024-02-26
    Publishing country Pakistan
    Document type Journal Article
    ZDB-ID 2192473-9
    ISSN 1819-2718 ; 1025-9589
    ISSN (online) 1819-2718
    ISSN 1025-9589
    DOI 10.55519/JAMC-04-12357
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: Effect of Iron Deficiency on the Phenotype of β-Thalassaemia Trait.

    Arshad, Maham / Ahmed, Suhaib / Ali, Nadir

    Journal of the College of Physicians and Surgeons--Pakistan : JCPSP

    2016  Volume 26, Issue 3, Page(s) 230–231

    Abstract: The objective of this study was to determine the effect of iron deficiency on Hb-A2 level in β-thalassaemia trait and to determine the frequency of individuals with β-thalassaemia trait who could be missed due to concomitant iron deficiency. A total of ... ...

    Abstract The objective of this study was to determine the effect of iron deficiency on Hb-A2 level in β-thalassaemia trait and to determine the frequency of individuals with β-thalassaemia trait who could be missed due to concomitant iron deficiency. A total of 120 patients were studied, out of which 23 were iron deficient (serum ferritin < 20 ng/ml). Mean Hb-A2 in the iron deficient individuals was 4.1 ± 0.47% as compared to 5.1 ± 0.58% in the remaining 97 individuals without iron deficiency (p < 0.001). In the 120 individuals with β-thalassaemia trait, mean Hb-A2 was 5.8% with range 3 - 6.8% and confidence interval was 95%. In 2 individuals with β-thalassaemia trait, Iron deficiency was observed and showed Hb-A2 less than 3.5%. These could have been missed while screening by Hb-A2 estimation alone. Co-existence of Iron deficiency and β-thalassaemia trait may mask the diagnosis of beta thalassaemia trait and such individuals can be missed during screening by Hb-A2 estimation alone.
    MeSH term(s) Adult ; Anemia, Iron-Deficiency/blood ; Anemia, Iron-Deficiency/diagnosis ; Anemia, Iron-Deficiency/epidemiology ; Erythrocyte Indices ; Female ; Ferritins/blood ; Hemoglobin A2/analysis ; Humans ; Male ; Pakistan/epidemiology ; beta-Thalassemia/blood ; beta-Thalassemia/diagnosis ; beta-Thalassemia/epidemiology
    Chemical Substances Ferritins (9007-73-2) ; Hemoglobin A2 (9034-53-1)
    Language English
    Publishing date 2016-03
    Publishing country Pakistan
    Document type Journal Article
    ZDB-ID 2276646-7
    ISSN 1681-7168 ; 1022-386X
    ISSN (online) 1681-7168
    ISSN 1022-386X
    DOI 03.2016/JCPSP.230231
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6532: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  3. Article: POLE and POLD1 pathogenic variants in the proofreading domain in papillary thyroid cancer.

    Siraj, Abdul K / Bu, Rong / Arshad, Maham / Iqbal, Kaleem / Parvathareddy, Sandeep Kumar / Masoodi, Tariq / Ghazwani, Laila Omar / Al-Sobhi, Saif S / Al-Dayel, Fouad / Al-Kuraya, Khawla S

    Endocrine connections

    2020  Volume 9, Issue 9, Page(s) 923–932

    Abstract: Thyroid cancer is the most frequent endocrine cancer with an increasing incidence rate worldwide and is the second most common malignancy among females in Saudi Arabia. Papillary thyroid cancer (PTC) is the most common subtype. Germline pathogenic ... ...

    Abstract Thyroid cancer is the most frequent endocrine cancer with an increasing incidence rate worldwide and is the second most common malignancy among females in Saudi Arabia. Papillary thyroid cancer (PTC) is the most common subtype. Germline pathogenic variants in the proofreading domain of the POLE and POLD1 genes predispose to several types of cancers. However, the role of pathogenic variants of these two genes in PTC remains unknown. Capture sequencing, Sanger sequencing and immunohistochemistry were performed on 300 PTC cases from the Middle Eastern region. One germline pathogenic variant each of POLE (1/300, 0.33%) and POLD1 (1/300, 0.33%) genes was identified. Low expression of POLD1 was detected in 46.5% (133/286) of cases and was significantly associated with the follicular variant of PTC (P = 0.0006), distant metastasis (P = 0.0033) and stage IV tumours (P = 0.0081). However, no somatic pathogenic variant was detected in POLE gene. Furthermore, low expression of POLE was noted in 61.7% (175/284) of cases with no significant clinicopathological associations. Our study shows that pathogenic variant in the POLE and POLD1 proofreading domain is a cause of PTC and low expression of POLD1 is associated with poor prognostic markers in the Middle Eastern population. Further studies from different geographic populations are needed to determine the frequency and spectrum of proofreading domain pathogenic variants in POLE and POLD1 genes and in PTC from different ethnicities.
    Language English
    Publishing date 2020-09-29
    Publishing country England
    Document type Journal Article
    ZDB-ID 2668428-7
    ISSN 2049-3614
    ISSN 2049-3614
    DOI 10.1530/EC-20-0258
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: POLE and POLD1 germline exonuclease domain pathogenic variants, a rare event in colorectal cancer from the Middle East.

    Siraj, Abdul K / Bu, Rong / Iqbal, Kaleem / Parvathareddy, Sandeep K / Masoodi, Tariq / Siraj, Nabil / Al-Rasheed, Maha / Kong, Yan / Ahmed, Saeeda O / Al-Obaisi, Khadija A S / Victoria, Ingrid G / Arshad, Maham / Al-Dayel, Fouad / Abduljabbar, Alaa / Ashari, Luai H / Al-Kuraya, Khawla S

    Molecular genetics & genomic medicine

    2020  Volume 8, Issue 8, Page(s) e1368

    Abstract: Background: Colorectal cancer (CRC) is a major contributor to morbidity and mortality related to cancer. Only ~5% of all CRCs occur as a result of pathogenic variants in well-defined CRC predisposing genes. The frequency and effect of exonuclease domain ...

    Abstract Background: Colorectal cancer (CRC) is a major contributor to morbidity and mortality related to cancer. Only ~5% of all CRCs occur as a result of pathogenic variants in well-defined CRC predisposing genes. The frequency and effect of exonuclease domain pathogenic variants of POLE and POLD1 genes in Middle Eastern CRCs is still unknown.
    Methods: Targeted capture sequencing and Sanger sequencing technologies were employed to investigate the germline exonuclease domain pathogenic variants of POLE and POLD1 in Middle Eastern CRCs. Immunohistochemical analysis of POLE and POLD1 was performed to look for associations between protein expression and clinico-pathological characteristics.
    Results: Five damaging or possibly damaging variants (0.44%) were detected in 1,135 CRC cases, four in POLE gene (0.35%, 4/1,135) and one (0.1%, 1/1,135) in POLD1 gene. Furthermore, low POLE protein expression was identified in 38.9% (417/1071) cases and a significant association with lymph node involvement (p = .0184) and grade 3 tumors (p = .0139) was observed. Whereas, low POLD1 expression was observed in 51.9% (555/1069) of cases and was significantly associated with adenocarcinoma histology (p = .0164), larger tumor size (T3 and T4 tumors; p = .0012), and stage III tumors (p = .0341).
    Conclusion: POLE and POLD1 exonuclease domain pathogenic variants frequency in CRC cases was very low and these exonuclease domain pathogenic variants might be rare causative events of CRC in the Middle East. POLE and POLD1 can be included in multi-gene panels to screen CRC patients.
    MeSH term(s) Aged ; Catalytic Domain ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/pathology ; DNA Polymerase II/chemistry ; DNA Polymerase II/genetics ; DNA Polymerase II/metabolism ; DNA Polymerase III/chemistry ; DNA Polymerase III/genetics ; DNA Polymerase III/metabolism ; Female ; Gene Frequency ; Germ-Line Mutation ; Humans ; Male ; Middle Aged ; Middle East ; Mutation Rate ; Pedigree ; Poly-ADP-Ribose Binding Proteins/chemistry ; Poly-ADP-Ribose Binding Proteins/genetics ; Poly-ADP-Ribose Binding Proteins/metabolism
    Chemical Substances Poly-ADP-Ribose Binding Proteins ; POLD1 protein, human (EC 2.7.7.-) ; DNA Polymerase II (EC 2.7.7.7) ; DNA Polymerase III (EC 2.7.7.7) ; POLE protein, human (EC 2.7.7.7)
    Language English
    Publishing date 2020-06-22
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2734884-2
    ISSN 2324-9269 ; 2324-9269
    ISSN (online) 2324-9269
    ISSN 2324-9269
    DOI 10.1002/mgg3.1368
    Database MEDical Literature Analysis and Retrieval System OnLINE

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