1.Penjujukan Eksom Bagi Penyakit Jarang Jumpa, Mullerian Agenesis dan Agenesis Anotectal anomaly: Kajian Kes (Whole Exome Sequencing of a Rare Disease, Mullerian Agenesis and Anorectal Anomaly: A Case Report)
Siti Aishah Sulaiman ; Nor Azian Abdul Murad ; Yock Ping Chow ; Muhammad-Redha Abdullah-Zawawi ; Zam Zureena Mohd Rani ; Siti Nurmi Nasir ; Salwati Shuib ; Dayang Anita Abdul Aziz ; Hana Azhari ; Sharifah Azween Syed Omar ; Zarina Abdul Latiff ; Rahman Jamal
Malaysian Journal of Health Sciences 2024;22(No.2):18-38
Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Type-II is a
congenital defect in the Mullerian duct that results in the absence of a uterus in women. The
aetiology of this syndrome is unknown and has been considered a sporadic genetic disease.
MRKH, together with anorectal anomaly, is an extremely rare condition and has only been
reported in a few cases without any information on genetic analysis. This study investigated the mutational profile of a girl diagnosed with MRKH and anorectal anomalies with
rectovaginal fistula. The whole exome sequencing (WES) trio-genetic analysis of a 5-year-old
Malaysian girl diagnosed with MRKH (having anorectal anomaly with rectovaginal fistula)
was performed together with her normal parents, using the Ion AmpliSeq Exome RDY kit
(ThermoFisher Scientific, USA). Data were analysed using Torrent Suite v.5.0.4 and annotated
using ANNOVAR. Single nucleotide polymorphisms (SNPs) with an allele frequency >0.01
were excluded, and the remaining variants were filtered based on de novo mutations,
autosomal recessive, and autosomal recessive genetic traits. Related genes were analysed by
biological pathway analysis (g:Profiler) and protein-protein interaction (HIPPIE v.2.3,
STRING v.11.5, dan GeneMANIA). A total of 36 mutations were identified, and two of them,
the LHX5 (p.P358Q), inherited from the father, and CFTR (p.R1158X), inherited from the
mother. There were 28 de-novo mutations from 28 genes. All genes were involved in 27
biological processes that connected with 23 interactions, and are likely to cause MRKH
syndrome in this patient.
2.Gut microbial assessment among Hylobatidae at the National Wildlife Rescue Centre, Peninsular Malaysia
Roberta Chaya Tawie TINGGA ; Millawati GANI ; Abd Rahman MOHD-RIDWAN ; Nor Rahman AIFAT ; Ikki MATSUDA ; Badrul Munir MD-ZAIN
Journal of Veterinary Science 2024;25(5):e65-
Objective:
High-throughput sequencing based on 16S ribosomal RNA genes was used to determine the baseline gut bacterial composition and identify potential pathogenic bacteria among three endangered gibbons housed in the NWRC.
Methods:
Feces were collected from 14 individuals (Hylobates lar, n = 9; Hylobates agilis, n = 4; and Symphalangus syndactylus, n = 1) from March to November 2022. Amplicon sequencing were conducted by targeting V3–V4 region.
Results:
The fecal microbial community of the study gibbons was dominated by Bacteroidetes and Firmicutes (phylum level), Prevotellaceae and Lachnospiraceae/ Muribaculaceae (family level), and Prevotella (and its subgroups) (genera level). This trend suggests that the microbial community composition of the study gibbons differed insignificantly from previously reported conspecific or closely related gibbon species.
Conclusions
and Relevance: This study showed no serious health problems that require immediate attention. However, relatively low alpha diversity and few potential bacteria related to gastrointestinal diseases and streptococcal infections were detected. Information on microbial composition is essential as a guideline to sustain a healthy gut condition of captive gibbons in NWRC, especially before releasing this primate back into the wild or semiwild environment. Further enhanced husbandry environments in the NWRC are expected through continuous health monitoring and increase diversity of the gut microbiota through diet diversification.
3.Validation of the Malay version of Food Insecurity Experience Scale (M-FIES) using Rasch analysis
Roselawati Mat Ya ; Noraishah Mohamed Nor ; Nurul Hazirah Jaafar ; Suriati Sidek ; Jamalludin Ab Rahman ; Norhasmah Sulaiman ; Wan Azdie Mohd Abu Bakar
Malaysian Journal of Nutrition 2023;29(No.3):529-537
Introduction: Food security can be defined as the availability of and accessibility
to food, acquired in an acceptable means at any given time and place in a way
that could maintain health and wellbeing. One critical dimension of food security
is continued access to adequate food. To measure this dimension, the Food and
Agriculture Organization (FAO) developed the latest measurement tool, namely the
Food Insecurity Experience Scale (FIES), the first instrument to measure people who
experience food insecurity globally. This study aimed to validate the construct validity
and reliability of the Malay version of FIES (M-FIES) for Malaysians. Methods: This
cross-sectional study was conducted among 145 households in Kuantan, Pahang.
Rasch analysis was used to analyse the construct validity of FIES. Results: FIES
met the Rasch model assumptions with all items having an infit value of between 0.7-
1.3 and an outfit value of <2.0. The item and person reliability were 0.97 and 0.71,
respectively; while the item and person separation were 5.59 and 1.58, respectively.
The FIES item severity indicated that the items “few food”, “healthy”, “skipped”, “ate
less”, and “runout” were disordered. Conclusion: The M-FIES is a valid and reliable
measurement tool for the food insecurity situation among households based on its
construct validity assessed using the Rasch model. Furthermore, the severity of item
in M-FIES was different in terms of order from the original FIES, suggesting that
the same items may be interpreted differently due to cultural or societal differences.
4. Molecular epidemiology of piliated pneumococcal isolates at a major tertiary hospital in the Klang Valley, Malaysia
Nurul DZARALY ; Mohd DESA ; AbdulRahman MUTHANNA ; Nurul BAHARIN ; Nurshahira SULAIMAN ; Nurul RAHMAN ; Siti MASRI ; Niazlin TAIB ; Semiat YUSUFF ; Nurul RAHMAN ; Navindra PALANISAMY ; Zarizal SUHAILI ; Nor RAHMAN ; Tuan SOH ; Fatimah ABDULLAH8
Asian Pacific Journal of Tropical Medicine 2023;16(2):80-88
Objective: To characterise a collection of pili-carrying and none pili-carrying pneumococcal isolates of clinical origin for serotypes, antibiotic resistance and genotype. Methods: In total, 42 clinical isolates were collected between October 2017 and December 2019. Those isolates were analysed for antimicrobial susceptibility, serotype distribution, detection of pneumococcal virulence and pilus genes. Multilocus sequence typing was performed only for piliated isolates, followed by phylogenetic analysis. Results: The common isolation sites among the pneumococcal isolates were tracheal aspirate (28.6%), blood (26.2%), and sputum (23.8%). Fifty percent isolates were resistant to erythromycin, tetracycline (50.0%) and trimethoprim-sulfamethoxazole (43.0%). The most frequent were serotypes 19F (28.6%), 6A/B (23.8%) and 19A (14.3%). Piliated isolates were detected in a small proportion (33.3%); 64.3% were multidrug-resistant. ST320 was the prevalent sequence type among the piliated isolates and genetically related to the Pneumococcal Molecular Epidemiology Network clones Taiwan 19F -14 (CC271). In the phylogenetic analysis, some piliated isolates showed a close association having similar ST320, carrying serotype 19A and both pilus genes indicating their clonal spread. Conclusions: Pneumococcal lineages of piliated isolates have been globally disseminated and pili could have played a role in the spread of antibiotic resistant clones.
5.CONTAINING AN ISLAND: CORONAVIRUS (COVID-19) OUTBREAK IN PERHENTIAN ISLANDS, TERENGGANU STATE OF MALAYSIA, IN 2021
Amer Taufek Abd Wahab ; Siti Fatimah Samsury ; Hafizuddin Awang ; Effah Leiylena Yaacob ; Arfizah Ahmad Daud ; Muhammad Solehuddin Ishak ; Nur Almas Alias ; Nor Hafizah Ghazali ; Ahmad Hanif Abdullah ; Mohd Anuar Abd Rahman ; Kasemani Embong
Journal of University of Malaya Medical Centre 2023;26(1):64-69
Background:
The spread of COVID-19 was inevitable and has not spared small and isolated communities, including the community of Perhentian Island in Besut District, Terengganu. Managing clusters in small islands can be difficult, given the limited resources. This study explores the characteristics of COVID-19 cases and the experience of outbreak containment at Perhentian Island.
Methodology:
A retrospective study involving record review of COVID-19 cases and at-risk individuals registered under Perhentian Cluster were retrieved from the Besut District Health Office COVID-19 online registry from the 16thAugust2021 until 6thOctober 2021. All notified cases and close contacts who fulfilled the inclusion criteria were extracted and analysed using descriptive statistics.
Results:
A total of 1,093 community members of Perhentian Island were screened of which 170 (15.5%) tested positive for COVID-19, while 923 (84.5%) tested negative. Among individuals who tested positive, the majority were adults (52.4%), male (51.8%), Malays (98.8%), and villagers (96.5%). Clinical characteristics were categorized into: asymptomatic (55.9%), had no known medical comorbidities (90.6%), low-risk groups (87.1%), vaccinated (57.6%), and admitted to PKRC (97.1%) for treatment. Multiple agencies were involved in the outbreak containment of the Perhentian Cluster, working collectively and in good coordination.
Conclusion
The outbreak was attributed to community gatherings and close interactions among villagers. Prompt actions, targeted planning, and inter-agency collaboration were the key factors in successful containment of further spread of COVID-19 in Perhentian Island.
COVID-19
6.A rare presentation of Mycobacterium africanum after two decades: a case report from Brunei Darussalam
Abdur Rahman Rubel ; Panduru Venkata Kishore ; May Thu Hla Aye ; Nor Azian Hafneh ; Vui Heng Chong
Western Pacific Surveillance and Response 2022;13(3):25-28
Mycobacterium africanum is endemic to West Africa and is rare outside this region. Most of the people infected with M. africanum outside Africa are migrants from affected parts of Africa. We report a rare case of pulmonary tuberculosis (TB) secondary to M. africanum in a man in Brunei Darussalam who had lived and worked in Guinea, West Africa for 6 years more than 20 years ago. He had been well until December 2020, when he presented with a chronic cough and was diagnosed with coinfections of Klebsiella pneumoniae and M. africanum, and newly diagnosed diabetes mellitus. This case highlights an interesting manifestation of pulmonary TB secondary to M. africanum in a patient whose last exposure was 20 years ago, contributed to by development of diabetes mellitus.
7.Efficacy of genotype-matched Newcastle disease virus vaccine formulated in carboxymethyl sago starch acid hydrogel in chickens vaccinated via different routes
Siti Nor Azizah MAHAMUD ; Muhammad Bashir BELLO ; Aini IDERIS ; Abdul Rahman OMAR
Journal of Veterinary Science 2022;23(4):e25-
Background:
The commercially available Newcastle disease (ND) vaccines were developed based on Newcastle disease virus (NDV) isolates genetically divergent from field strains that can only prevent clinical disease, not shedding of virulent heterologous virus, highlighting the need to develop genotype-matched vaccines Objectives: This study examined the efficacy of the NDV genotype-matched vaccine, mIBS025 strain formulated in standard vaccine stabilizer, and in carboxymethyl sago starch-acid hydrogel (CMSS-AH) following vaccination via an eye drop (ED) and drinking water (DW).
Methods:
A challenge virus was prepared from a recent NDV isolated from ND vaccinated flock. Groups of specific-pathogen-free chickens were vaccinated with mIBS025 vaccine strain prepared in a standard vaccine stabilizer and CMSS-AH via ED and DW and then challenged with the UPM/NDV/IBS362/2016 strain.
Results:
Chickens vaccinated with CMSS-AH mIBS025 ED (group 2) developed the earliest and highest Hemagglutination Inhibition (HI) NDV antibody titer (8log 2 ) followed by standard mIBS025 ED (group 3) (7log 2 ) both conferred complete protection and drastically reduced virus shedding. By contrast, chickens vaccinated with standard mIBS025 DW (group 5) and CMSS-AH mIBS025 DW (group 4) developed low HI NDV antibody titers of 4log 2and 3log 2 , respectively, which correspondingly conferred only 50% and 60% protection and continuously shed the virulent virus via the oropharyngeal and cloacal routes until the end of the study at 14 dpc.
Conclusions
The efficacy of mIBS025 vaccines prepared in a standard vaccine stabilizer or CMSS-AH was affected by the vaccination routes. The groups vaccinated via ED had better protective immunity than those vaccinated via DW.
8.Immature Brain Teratoma of An Infant In A University Hospital: A Case Report
Ariffin Nasir ; Fahisham Taib ; Nor Rosidah Ibrahim ; Abdul Rahman Izani Ghani ; Suria Emilia Suhana Othman Tan ; Norsarwany Mohamad
Malaysian Journal of Medicine and Health Sciences 2022;18(No.4):218-220
Teratomatous tumours of the head are rather uncommon. We report a 3-month-old child who presented with acute
signs of raised intracranial pressure, needing craniectomy and subtotal tumour removal. The patient was diagnosed
as intracranial immature teratoma grade 3, from the pathological study and elevated alpha-fetoprotein (AFP). Managing brain teratoma posed a challenge to the managing team due to the location of the tumour, the unavailability
of standardized chemotherapy protocol and the dilemma of commencing adjuvant chemotherapy in a very young
infant. The tumour was partially removed due to its critical location. And chemotherapy was delayed until the patient
achieved 7 months of age. After four rounds of chemotherapy, the patient remained in remission for more than three
years follow up.
9.Determinants of microalbuminuria among type 2 diabetes mellitus patients in Kuala Selangor district: A cross-sectional study
Nurul Farehah Shahrir ; Noor Rafizah Aminah Aziz ; Fatimah Lailiza Ahmad ; Nor Anizah Muzaid ; Farhani Samat ; Sharifah Nurul Aida Syed Ghazaili ; Nuraini Dolbasir ; Nurul Nadia Baharum ; Sharmilee a/p T.Ramanathan ; Siti Zaharah Binti Abd Rahman ; Ap. Sa&rsquo ; aidah Bat ; Maznah Sarif ; Noor Afiza Ismaal
Malaysian Family Physician 2022;17(3):53-63
Introduction:
Microalbuminuria presents significant health risks for the progression of endstage renal-failure (ESRF) among type 2 diabetes mellitus (T2DM) patients. This study aims to determine the proportion and associated factors of microalbuminuria among T2DM patients in Kuala Selangor district, Malaysia.
Methods:
A retrospective cross-sectional study was conducted from December 2020 to February 2021 using secondary data from the National Diabetic Registry (NDR), Malaysia, and reviewed patients’ diabetic records for the year 2020. All T2DM patients aged ≥18 years who were registered with the NDR in 2020 and fulfilled the inclusion and exclusion criteria were included in the study. Descriptive statistics and multiple logistic regression analysis were performed. Data were analysed using SPSS version 26.0. A total of 343 samples were included in this study for the determination of the proportion of microalbuminuria and its associated factors.
Results:
Of 343 respondents, 34.4% had microalbuminuria. HbA1c >7.0% (AdjOR 2.19, 95% CI: 1.35, 3.55, p=0.001), HDL <1.04 mmol/L (AdjOR 2.44, 95% CI: 1.323, 4.52, p=0.004), dyslipidaemia (AdjOR 1.90, 95% CI: 1.03, 3.48, p=0.039), and peripheral neuropathy (AdjOR 3.01, 95% CI: 1.02, 8.93, p=0.047) were significantly associated with microalbuminuria.
Conclusion
Microalbuminuria is a modifiable risk factor in preventing the progression of ESRF among T2DM patients. Therefore, identification of factors associated with microalbuminuria among this high-risk group is important to facilitate early screening and prompt treatment to prevent progression of diabetic kidney disease to ESRF.
Diabetes Mellitus, Type 2
;
Glycated Hemoglobin
10.Glutathione (GSH) improves sperm quality and testicular morphology in streptozotocin-induced diabetic mice.
Fathiah ABDULLAH ; Mohamed Noor KHAN NOR-ASHIKIN ; Renu AGARWAL ; Yuhaniza Shafinie KAMSANI ; Mastura ABD MALEK ; Nor Salmah BAKAR ; Aqila-Akmal MOHAMMAD KAMAL ; Mimi-Sophia SARBANDI ; Nor-Shahida ABDUL RAHMAN ; Nurul Huda MUSA
Asian Journal of Andrology 2021;23(3):281-287
Diabetes mellitus (DM) is known to cause reproductive impairment. In men, it has been linked to altered sperm quality and testicular damage. Oxidative stress (OS) plays a pivotal role in the development of DM complications. Glutathione (GSH) is a part of a nonenzymatic antioxidant defense system that protects lipid, protein, and nucleic acids from oxidative damage. However, the protective effects of exogenous GSH on the male reproductive system have not been comprehensively examined. This study determined the impact of GSH supplementation in ameliorating the adverse effect of type 1 DM on sperm quality and the seminiferous tubules of diabetic C57BL/6NTac mice. GSH at the doses of 15 mg kg


Result Analysis
Print
Save
E-mail