Publications by authors named "Asiah Kassim"

5 Publications

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A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity.

Clin Exp Immunol 2021 Jun 1. Epub 2021 Jun 1.

Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.

Primary immunodeficiency diseases refer to inborn errors of immunity (IEI) that affect the normal development and function of the immune system. The phenotypical and genetic heterogeneity of IEI have made their diagnosis challenging. Hence, whole-exome sequencing (WES) was employed in this pilot study to identify the genetic etiology of 30 pediatric patients clinically diagnosed with IEI. The potential causative variants identified by WES were validated using Sanger sequencing. Genetic diagnosis was attained in 46.7% (14 of 30) of the patients and categorized into autoinflammatory disorders (n = 3), diseases of immune dysregulation (n = 3), defects in intrinsic and innate immunity (n = 3), predominantly antibody deficiencies (n = 2), combined immunodeficiencies with associated and syndromic features (n = 2) and immunodeficiencies affecting cellular and humoral immunity (n = 1). Of the 15 genetic variants identified, two were novel variants. Genetic findings differed from the provisional clinical diagnoses in seven cases (50.0%). This study showed that WES enhances the capacity to diagnose IEI, allowing more patients to receive appropriate therapy and disease management.
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http://dx.doi.org/10.1111/cei.13626DOI Listing
June 2021

Whole exome sequencing identifies compound heterozygous variants of gene in monozygotic twin patients with common variable immunodeficiency.

SAGE Open Med 2020 22;8:2050312120922652. Epub 2020 May 22.

Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.

Objectives: A pair of female Malay monozygotic twins who presented with recurrent upper respiratory tract infections, hepatosplenomegaly, bronchiectasis and bicytopenia were recruited in this study. Both patients were suspected with primary immunodeficiency diseases. However, the definite diagnosis was not clear due to complex disease phenotypes. The objective of this study was to identify the causative gene mutation in these patients.

Methods: Lymphocyte subset enumeration test and whole exome sequencing were performed.

Results: We identified a compound heterozygous mutation (c.1916G>A and c.2012G>A) in both patients. These variants were then confirmed using Sanger sequencing.

Conclusion: Whole exome sequencing analysis of the monozygotic twins revealed compound heterozygous missense mutations in .
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http://dx.doi.org/10.1177/2050312120922652DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249565PMC
May 2020

Prevalence of sleep disordered breathing symptoms among Malay school children in a primary school in Malaysia.

Med J Malaysia 2012 Apr;67(2):181-5

Department of Paediatric, Hospital Tengku Ampuan Afzan, Kuantan, Pahang, Malaysia.

Sleep disordered breathing (SDB) is increasingly being diagnosed in children. However, there is no prevalence study done in Malaysia. The study objective was to evaluate the prevalence of SDB symptoms based on parental reports and associated risk factors among Malay school children aged 6 to 10 years old in a primary school using a translated University Michigan Paediatric Sleep Questionnaire (Malay UM-PSQ). The children whose parents responded to the questionnaire and consented were examined, documenting height, weight, skin fold thickness, neck and abdominal circumference, tonsillar size, nostril examination and presence of micrognathia or retrognathia. There were 550 respondents. The prevalence of parental report of SDB symptoms was 14.9 % (95 % CI 11.9, 17.9). Two hundred and eighty-five (51.8%) school children were males with mean age of 8.5 years (SD 1.1). The associated risk factors for SDB symptoms are male, obesity, large neck and waist circumference, positive history of asthma, history of recurrent tonsillitis, enlarged tonsil (> 4+) and enlarged nasal turbinate. Multivariate analysis showed that male gender is the only significant independent risk factor of SDB symptoms
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April 2012

Case series of foreign body aspiration in Paediatric Institute, Hospital Kuala Lumpur.

Med J Malaysia 2011 Dec;66(5):484-6

Hospital Kuala Lumpur, Paediatric, Jalan Pahang, Kuala Lumpur, Wilayah Persekutuan 50586, Malaysia.

A retrospective case series was conducted to determine the clinical characteristics and bronchoscopy findings of children with foreign body aspiration in Paediatric Institute, Hospital Kuala Lumpur. Ten boys and two girls were included (range 2-177 months; median 26 months old). They commonly presented with cough (12/100%) and difficulty in breathing (9/75%). All patients had unilateral auscultatory findings and the commonest radiographic findings were unilateral hyperinflation (7/58.3%). The majority of foreign bodies removed was organic (8/66.6%) and more frequently found in the left bronchial tree (7/58.3%). Major complications were pneumonia (11/91.6%) and airway oedema (11/ 91.6%). Eight patients had delayed diagnosis due to parents unawareness (6/50%) and missed diagnosis (2/16.7%).
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December 2011

Unrecognised infection in a cystic fibrosis patient.

J Paediatr Child Health 2006 Apr;42(4):217-8

Paediatric Institute, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.

We report a 17-year-old Malay boy with cystic fibrosis who over a 14-month period experienced worsening respiratory symptoms and deteriorating lung function. Burkholderia pseudomallei was eventually isolated from his sputum. He improved clinically following treatment for meliodosis and his lung function returned to normal.
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http://dx.doi.org/10.1111/j.1440-1754.2006.00834.xDOI Listing
April 2006
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