Publications by authors named "Siti Mardhiana Mohamad"

4 Publications

  • Page 1 of 1

Clinical and demographic pattern of chronic granulomatous disease (CGD) from a multicenter perspective: Malaysia's experience over 26 years.

Allergy Asthma Clin Immunol 2021 May 17;17(1):50. Epub 2021 May 17.

Department of Paediatrics, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Selangor, Malaysia.

Background: A retrospective review of clinical manifestations and demographic pattern of patients diagnosed as chronic granulomatous disease (CGD) from 7 hospitals in Malaysia. An analysis of the available database would establish clinical characteristics, diagnoses and outcome including microbiologic pattern. Studying the demography allows us to document the occurrence of CGD amongst multiethnic groups and its geographical distribution for Malaysia.

Methods: Data from the Malaysia Primary Immunodeficiency Network (MyPIN) with cases of CGD diagnosed from 1991 until 2016 were collated and analysed.

Results: Twenty patients were diagnosed as CGD. Males (N = 13, 65%) outnumber females (N = 7, 35%). CGD is commonest amongst the Malays (65%) followed by the Chinese (15.0%), Indians (10.0%) and natives of Borneo (10.0%), reflecting the ethnic composition of the country. The mean age of diagnosis was 3.7 years. There was a positive family history in 40% of the cases. Abscess was the main presenting feature in 16 patients (80%) with one involving the brain. Pneumonia occurred in 10 (50%) and one with complicated bronchiectasis. Catalase-positive bacteria were the most commonly isolated pathogen with Chromobacterium violaceum predominating (N = 5, 25%) with consequent high mortality (N = 4, 80%). All CGD patients with C. violaceum infection displayed CD4 + (T helper cells) lymphopenia.

Conclusion: This study has shown CGD occurs in the major ethnic groups of Malaysia. To the best of our knowledge, this is the first and the largest series of chronic granulomatous disease in South East Asia which may be reflective of similar clinical pattern in the region. C. violaceum infection is associated with a higher mortality in CGD patients in Malaysia. All the CGD patients with C. violaceum infection in this patient series displayed CD4 + (T helper) lymphopenia. We recorded rare clinical manifestation of CGD viz. brain abscess and bronchiectasis.
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May 2021

Germline TET2 loss of function causes childhood immunodeficiency and lymphoma.

Blood 2020 08;136(9):1055-1066

Primary Immunodeficiency Group, Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, United Kingdom.

Molecular dissection of inborn errors of immunity can help to elucidate the nonredundant functions of individual genes. We studied 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin. All 3 showed early autologous T-cell reconstitution following allogeneic hematopoietic stem cell transplantation. By whole-exome sequencing, we identified rare homozygous germline missense or nonsense variants in a known epigenetic regulator of gene expression: ten-eleven translocation methylcytosine dioxygenase 2 (TET2). Mutated TET2 protein was absent or enzymatically defective for 5-hydroxymethylating activity, resulting in whole-blood DNA hypermethylation. Circulating T cells showed an abnormal immunophenotype including expanded double-negative, but depleted follicular helper, T-cell compartments and impaired Fas-dependent apoptosis in 2 of 3 patients. Moreover, TET2-deficient B cells showed defective class-switch recombination. The hematopoietic potential of patient-derived induced pluripotent stem cells was skewed toward the myeloid lineage. These are the first reported cases of autosomal-recessive germline TET2 deficiency in humans, causing clinically significant immunodeficiency and an autoimmune lymphoproliferative syndrome with marked predisposition to lymphoma. This disease phenotype demonstrates the broad role of TET2 within the human immune system.
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August 2020

Association of ABO blood groups with allergic diseases: a scoping review.

BMJ Open 2020 02 12;10(2):e029559. Epub 2020 Feb 12.

Cluster of Regenerative Medicine, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam, Kepala Batas, Penang, Malaysia

Objective: The objective of this study was to map evidence of the association of ABO blood groups with allergic diseases such as allergic rhinitis (AR), atopic dermatitis (AD) and asthma.

Design: A scoping review.

Data Sources: PubMed, Scopus, Direct Open Access Journal, Medline, Cumulative Index to Nursing and Allied Health Literature, ScienceDirect and SpringerLink were searched from October 2017 until May 2018.

Eligibility Criteria For Selecting Studies: We selected all types of studies including case-control studies, prospective or retrospective cohort studies, cross-sectional studies and experimental studies, and we included reviews such as literature reviews, systematic reviews with or without meta-analysis and scoping reviews that were published in English and associated the ABO blood group with the three allergic diseases (asthma, AR and AD) in humans of all age groups.

Data Extraction And Synthesis: Two reviewers independently screened the titles and abstracts and assessed the full-text articles of the abstracts that met the eligibility requirements. Data from the included studies were extracted, evaluated and reported in the form of narrative synthesis.

Results: Of the 10 246 retrieved titles, only 14 articles were selected for a scoping review based on the eligibility criteria. The majority of the studies demonstrated a significant association between ABO blood groups and allergic diseases. We found that blood group O is prominent in patients with AR and asthma, while a non-O blood group is common in patients with AD.

Conclusion: This scoping review serves as preliminary evidence for the association of ABO blood groups with allergic diseases. Further studies need to be conducted so that the relationship between ABO blood groups and allergic diseases can be fully established. This could be helpful for clinicians and health professionals in consulting and managing patients who suffer from allergic diseases in the future.
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February 2020

Recombinant activated factor VII (rFVIIa) in refractory haemorrhage for non-haemophiliacs: an eleven-year single-centre experience.

BMC Hematol 2018 23;18:34. Epub 2018 Nov 23.

1Regenerative Medicine Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, 13200 Kepala Batas, PNG Malaysia.

Background: Massive bleeding is one of the commonest salvageable causes of death. The search for an ideal haemostatic agent during massive bleeding is still ongoing. One of the novel haemostatic medications is recombinant activated factor VII (rFVIIa). To date, the usage of rFVIIa during massive haemorrhage among non-haemophiliac patients remains off-label. The aim of this study is to report our experience in using rFVIIa to treat refractory bleeding.

Methods: Medical records of all patients treated with rFVIIa for massive bleeding over an eleven-year period in a single institution were recorded. Treatment indications, 24-h and 30-day mortality, changes in transfusion needs and coagulation profiles after rFVIIa administration were analysed.

Results: rFVIIa were administered in 76 patients. Of these, 41 (53.9%) were non-surgical bleeding, followed by 22 patients (28.9%) with trauma, other surgery bleedings in 9 patients (11.8%) and 4 patients (5.4%) with peripartum haemorrhage. Total survival rate was 78.9% within 24 h and 44.7% over 30 days. Among all these patients who had received rFVIIa due to life-threatening haemorrhage, blood and blood product requirements were significantly reduced ( < 0.001), and the coagulation profiles improved significantly ( < 0.05). Two patients with preexisting thromboembolism were given rFVIIa due to intractable bleeding, both survived. No thromboembolic events were reported after the administration of rFVIIa.

Conclusions: rFVIIa significantly improved coagulation parameters and reduced blood product requirements during refractory haemorrhage. Additionally, usage of rFVIIa in trauma and peripartum haemorrhage patients yield better outcomes than other groups of patients. However, the overall mortality rate remained high.
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November 2018