MyMedR

Displaying all 7 publications

Abstract:

Sort:

Fulltext Turner syndrome with ring x chromosome: do they have a distinct phenotype?

Lee, Yee Lin, Salwati Shuib, Wu, Loo Ling

International Medical Journal Malaysia, 2018;17(3):99-102.
MyJurnal

In contrast to classic Turner syndrome, Turner patients with ring X chromosome are associated with distinct dysmorphism and are likely to be mentally impaired. Four Turner patients with ring X chromosome were examined for phenotypic features of Turner syndrome and additional dysmorphism. Both patients 1 and 2 are twins with normal intelligence whereas patients 3 and 4 have mental impairment. With the exception of patient 4, the other three patients only have few Turner characteristics. None of the patients have the distinctive dysmorphism previously reported in Turner syndrome with ring X chromosome. Both twins developed spontaneous puberty. Patients 3 and 4 however had no spontaneous puberty. We postulate that this variation may be related to the ring size, the proportion of 45,X and ring X chromosome in cell lines of various body tissues as well as the ability of these rings to be inactivated as a result of lyonisation.
Fulltext The role of conventional and molecular cytogenetics in the diagnosis of microdeletion syndromes

Salwati Shuib, Sharifah Noor Akmal, Zarina Abdul Latif, Nor Zarina Zainal Abidin, Zubaidah Zakaria

Medicine & Health, 2006;1(1):45-52.
MyJurnal

In this report we demonstrate the role of fluorescence in situ hybridisation (FISH) and conventional cytogenetic methods in clinically and cytogenetically confirmed cases of microdeletion syndromes. A total of nine cases were referred to the Cytopathology and Cytogenetic Unit, Hospital Universiti Kebangsaan Malaysia (HUKM) from 2002 to 2004. They include three Prader-Willi syndrome, three DiGeorge syndrome, one Williams syndrome, one Miller-Dieker syndrome and one Kallmann syndrome. Blood samples from the patients were cultured and harvested following standard procedures. Twenty metaphases were analysed for each of the cases. FISH analysis was carried out for all the cases using commercial probes (Vysis, USA): SNRPN and D15S10 for Prader-Willi syndrome, LIS1 for Miller Dieker syndrome, ELN for Williams syndrome, KAL for Kallmann syndrome, TUPLE 1 and D22S75 for DiGeorge syndrome. Conventional cytogenetic analysis revealed normal karyotypes in all but one case with structural abnormality involving chromosomes 9 and 22. FISH analysis showed microdeletions in all of the nine cases studied. This study has accomplished two important findings ie. while the FISH method is mandatory in ruling out microdeletion syndromes, conventional cytogenetics acts as a screening tool in revealing other chromosomal abnormalities that may be involved with the disease.
Fulltext Elucidating lineage-specific myelotoxicity and chromosomal aberration status in hydroquinone- exposed hematopoietic STEM / progenitor cells

Julia Mohd Idris, Zariyantey Abd Hamid, Ng, Khen Eng, Chow, Paik Wah, Salwati Shuib, Mathialagan, Ramya Dewi

Life Sciences, Medicine and Biomedicine, 2018;2(1):14-21.
MyJurnal

Benzene exposure has been associated with hematotoxicity and leukemogenicity. However, the impact of benzene exposure on complex microenvironment of Hematopoetic Stem Cells (HSCs) niche, comprising of HSCs and lineage-specific progenitors remains elusive. Thus, a study on benzene-targeting HSCs niche could uncover mechanism linking benzene to HSCs niche alteration. This study evaluates the lineage-specific responses following exposure to a benzene metabolite, namely hydroquinone (HQ) in targeting HSCs and myeloid-committed progenitors. Freshly isolated murine bone marrow cells (BMCs) were exposed to HQ at series of concentrations (0 – 50 μM) for 24 hours; followed by cell viability analysis using MTT assay. Chromosomal aberration (CA) status was determined using karyotyping analysis. Expression of surface antigen for HSCs (Sca-1) was confirmed by flow cytometer. Lineage-specific myelotoxicity was studied using the colony-forming unit (CFU) assay for the following myeloid progenitors: CFU granulocyte /erythrocyte /macrophage /megakaryocyte (CFU-GEMM), CFU-granulocyte/macrophage (CFU-GM), CFU-granulocyte (CFU-G), CFU-macrophage (CFU-M), CFU-erythroid (CFU-E) and Burst-forming unit erythroid (BFU-E). HQ reduced (p
Fulltext Mutations in KIF27, GNAS and IFT140 genes in a patient with VACTERL association: a case report

Siti Aishah Sulaiman, Nor Azian Abdul Murad, Chow, Yock Ping, Zam Zureena Mohd Rani, Salwati Shuib, Dayang Anita A. Aziz, et al.

Asia-Pacific Journal of Molecular Medicine, 2018;8(2):1-10.
MyJurnal

VACTERL association is a rare genetic disorder involving at least three of the following congenital
malformations: vertebral defects (V), anal atresia (A), cardiac defects (C), trachea-oesophageal fistula with
or without oesophageal atresia (TE), renal anomalies (R) and limb abnormalities (L). Until now, the
aetiology of VACTERL association is unknown, particularly at the molecular level. Here, we performed
whole exome sequencing (WES) of an infant with VACTERL association. The patient was delivered
prematurely at 30 weeks and had 4/6 of the VACTERL malformations. Trio-WES analysis was performed
using Torrent Suite and ANNOVAR. Polymorphisms with an allele frequency of >0.01 were excluded, and
the remaining variants were filtered based on de novo mutations, autosomal recessive, X-linked and di-genic
inheritance traits. In this patient, no homozygous, compound heterozygous or X-linked mutations was
associated with VACTERL. However, we identified two heterozygous mutations; KIF27
(ENST00000297814: c.3004A> C:p.N1002H) and GNAS (ENST00000371098: c.205C>A:p.H69N) genes that
were inherited from her father and mother respectively. A de novo, IFT140 gene mutation
(ENST00000426508: c.683C>G:p.S228C) was also identified in this patient. The VACTERL phenotype in
this patient may due to heterozygous mutations affecting KIF27 and GNAS genes, inherited via autosomal
recessive trait. In addition, the IFT140 gene mutation may also be involved. These genes are known to be
directly or non-directly involved in the sonic hedgehog signalling that is known to be implicated in
VACTERL. This is the first report of these genetic mutations in association with VACTERL.
Fulltext Utility of Ki-67 and p53 in distinguishing cervical intraepithelial neoplasia 3 from squamous cell carcinoma of the cervix

Tan GC, Sharifah NA, Shiran MS, Salwati S, Hatta AZ, Paul-Ng HO

Asian Pac J Cancer Prev, 2008 Oct-Dec;9(4):781-4.
PMID: 19256776

The differentiation between cervical intraepithelial neoplasia 3 (CIN 3) and early squamous cell carcinoma (SCC) of the cervix may be difficult in certain situations. Identification of invasion beyond the basement membrane is the gold standard for the diagnosis of the latter. The objective of this study was to determine whether the use of Ki-67 and p53 could help in solving the above dilemma. This was a retrospective study on 61 cases of cervical neoplasms comprising of 25 cases of CIN 3 and 36 SCC. All cases were evaluated by immunohistochemistry using Ki-67 and p53 monoclonal antibodies. Results showed that the differences of Ki-67 and p53 expression between CIN 3 and SCC were statistically significant. In conclusion, Ki-67 and p53 may serve as helpful adjuncts to routinely-stained histological sections in differentiating between CIN 3 and SCC.
Fulltext Double Philadelphia chromosome-positive B acute lymphoblastic leukaemia in an elderly patient

Tang YL, Raja Sabudin RZ, Leong CF, Ko CC, Chia WK, Salwati S, et al.

Malays J Pathol, 2015 Dec;37(3):275-9.
PMID: 26712675 MyJurnal

A rare case of double Philadelphia chromosome-positive B Acute lymphoblastic Leukaemia (B-ALL) is reported here. A 60-year-old lady presented with one month history of fever, submandibular lymphadenopathy, loss of appetite and weight loss. Physical examination revealed multiple palpable cervical lymph nodes. Blood film showed leucocytosis with 72% blasts. Bone marrow assessment confirmed a diagnosis of B-ALL with presence of double Philadelphia (Ph) chromosomes. As she was very ill, she was initially treated with an attenuated regimen of induction chemotherapy consisting of rituximab, cyclophosphamide, vincristine and prednisolone (R-CVP) along with intrathecal chemotherapy comprising methotrexate, cytarabine and hydrocortisone. Bone marrow examination post-induction chemotherapy showed >5% blasts. She was subsequently re-induced with rituximab, cyclophosphamide, doxorubicin, vincristine and prednisolone (R-CHOP) along with intrathecal chemotherapy, following which she went into complete remission. Consolidation chemotherapy consisting of methotrexate, methylprednisolone, cytarabine, intrathecal chemotherapy and imatinib was subsequently administered followed by maintenance chemotherapy consisting of vincristine, prednisolone and imatinib (IDEAMOP). She developed spontaneous bruises and relapsed four months into her maintenance chemotherapy with 90% blasts in the bone marrow which was treated with fludarabine, cytarabine and granulocyte colony stimulating factor (FLAG). Unfortunately she developed neutropenic sepsis which was complicated by invasive lung aspergillosis. Bone marrow examination post-FLAG showed 80% blasts. Despite aggressive antifungal therapy, her lung infection worsened and she finally succumbed to her illness 13 months after the initial diagnosis. We highlight a rare case of elderly B-ALL with double Ph chromosomes which carries a poor prognosis despite aggressive treatment for the disease and its complications.
Early relapse after complete remission of primary plasma cell leukaemia manifesting clonal evolution: A case report

Nyunt WWT, Abdul Jalil D, Zakariah NA, Abdul Karim N, Mohd Idris MR, Nasuruddin DN, et al.

Malays J Pathol, 2020 Apr;42(1):143-150.
PMID: 32342945

INTRODUCTION: Plasma cell leukaemia (PCL) is a rare variant of multiple myeloma. We report a case of PCL to demonstrate the clonal evolution, resulting in disease relapse after achieving complete remission, and its aggressive nature of the disease, leading to poor clinical outcome.
CASE REPORT: A 69-year-old man presented with a three-day-history of worsening generalized body weakness, poor oral intake, nausea, significant loss of weight and lower back pain. He was diagnosed as primary PCL, based on hypercalcaemia, renal insufficiency, anaemia, thrombocytopenia, lytic bone lesions, 24% abnormal plasma cells in peripheral blood, immunophenotype of clonal plasma cells which were positive for CD38, CD138 and CD56 markers with kappa light chain restriction, 49% abnormal plasma cells in bone marrow, monoclonal paraprotein (IgG kappa) in serum and urine, and positive IGH rearrangement (Fluorescence in-situ hybridisation, FISH). He achieved complete remission after four cycles of Bortezomib-based therapy. There was a plan for high-dose therapy plus autologous haematopoietic cell transplantation. A month later, the disease relapsed, as evidenced by 94% abnormal plasma cells in his bone marrow aspirate, complex karyotype and abnormal FISH results. He passed away a few days later, from severe septicaemia. Time-to-progression of disease was 1 month and overall survival was 5 months.
DISCUSSION: This case report illustrates the clonal evolution and aggressive nature of primary PCL with older age at presentation, leading to a shorter duration of remission and overall survival.