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.A Rare Presentation of a Common Disorder : Severe Hyponatremia Presenting as Reversible Unstable Bradyarrythmias
Ahmad Luqman Md Pauzi ; Norhayati Mohamad Amin ; Adi Putera Sazali ; Juliana Hashim ; Muhammad Afif Abdullah ; Iskasymar Ismail ; Wan Zulhaikal Wan Zukiman
Malaysian Journal of Medicine and Health Sciences 2024;20(No.1):395-397
Severe hyponatraemia is defined as a sodium level of less than 120 mEq/L, and it is frequently accompanied by
neurological symptoms like coma, convulsions, respiratory arrest, and death. Clinical cardiac toxicity from hyponatremia, such as bradyarrhythmia, is extremely rare. In this article, we present a case of acute severe hyponatraemia
that induced unstable bradyarrhythmia and led to refractory bradycardia, which did not improve despite receiving
treatment in accordance with the standard Advanced Cardiovascular Life Support protocol. The patient’s bradyarrhythmia has completely resolved with the administration of 3% hypertonic saline, which restored her sodium
levels. Due to the possibility that severe hyponatremia may contribute to the aetiology of cardiac malfunction, this
case raises awareness about the significance of closely monitoring electrocardiograms and telemetry in patients with
severe hyponatremia.
3.Effectiveness and safety of preoperative distraction using modified halo-pelvic Ilizarov distraction assembly in patients with severe kyphoscoliosis
Muhammad Saad ILYAS ; Abdullah SHAH ; Uruj ZEHRA ; Muhammad ISMAIL ; Haseeb ELAHI ; Amer AZIZ
Asian Spine Journal 2024;18(4):522-531
Methods:
Patients with severe kyphoscoliosis having coronal Cobb angle >90° were applied with modified halo-pelvic Ilizarov distraction assembly preoperatively. The modified assembly consisted of a pelvic component and halo ring, and distraction was given at the rate of 2–3 mm/day for 6–12 weeks. Complete clinical assessments along with pulmonary function tests were performed, and scoliosis series X-ray images were assessed for coronal and sagittal Cobb angle and other spinopelvic parameters before applying the assembly and during 2 years of follow-up.
Results:
Thirty-four patients (age, 9–27 years; male/female ratio of 18:16) were included. The coronal and sagittal Cobb angles were 116°±16.2° and 84°±28.3°, respectively. Correction rates obtained through modified halo-pelvic assembly were nearly 52% (p=0.001) in coronal and 40% (p=0.001) in sagittal Cobb angles, with improvement in height (p=0.001). Apical vertebral translation and coronal balance were also improved significantly (p=0.001). Further improvements in all the parameters were obtained after definitive surgery, with improvements in the forced expiratory volume in 1 second (p =0.002) and forced vital capacity (p=0.001).
Conclusions
Our modified halo-pelvic Ilizarov distraction assembly can achieve good correction in severe spinal deformities without significant risk to neurology, has fewer complications, and promotes good patient compliance.
4.Solitary Skull Langerhans Cell Histiocytosis Presenting With a Pus Draining Fistula: An Unusual Presentation and Review of Literature
Hafiza Hifza BASHIR ; Hafiza Fatima AZIZ ; Faizan SAEED ; Muhammad Ehsan BARI ; Nasir UDDIN
Brain Tumor Research and Treatment 2024;12(2):109-114
Langerhans cell histiocytosis (LCH) is a rare condition in adults, especially when it is limited to a single area of the skull, known as solitary calvarial involvement. In this case report, we present a unique instance of LCH affecting the parietal bone with a pus-draining fistula. This is a rare and unusual presentation at this location, which has been scarcely reported in medical literature. A 30-year-old woman with no prior comorbidity presented with complaints of headache that persisted for a year. She also had swelling on her scalp and a yellowish discharge for 3 weeks, but no neurological problems were observed. Radiology revealed thinning of the calvaria, with ragged margins along the inner table, multiple focal erosions, and involvement of overlying soft tissue and bony sequestrum. The patient underwent biparietal craniotomy and excision of the lesion. The histopathology report showed LCH. After 8 months of follow-up, there was no recurrence. The management of solitary calvarial involvement by LCH with masquerading presentation as a scalp infection can be achieved through complete excision of the lesions, resulting in a favorable outcome.
5.Epidemiology of COVID-19 cases and vaccination coverage in Seremban District, Malaysia, 2021
Khairul Hafidz Alkhair Khairul Amin ; Nur Nadiatul Asyikin Bujang ; Siti Aishah Abas ; Nadiatul Ima Zulkifli ; Syuaib Aiman Amir ; Sharina Mohd Shah ; Veshny Ganesan ; Nurul Fazilah Aziz ; Muhammad Adli Jalaluddin ; Mohd Shahrol Abd Wahil ; Muhamad Hazizi Muhamad Hasani ; Noor Khalili Mohd Ali ; Mohammad Paid Yusof
Western Pacific Surveillance and Response 2023;14(2):01-07
Objective: Malaysia’s first case of coronavirus disease (COVID-19) was reported in January 2020, with the first case in the state of Negeri Sembilan diagnosed on 17 February 2020. The National COVID-19 Immunisation Programme commenced in early March 2021 in Negeri Sembilan. This study describes the COVID-19 cases and vaccination coverage in Seremban District, Negeri Sembilan, during 2021.
Methods: The demographic and clinical characteristics of COVID-19 cases and the district’s vaccination coverage were described. Vaccination coverage was plotted against COVID-19 cases on the epidemic curve. The chi-square test was used to examine the differences between the vaccination status of COVID-19 cases and severity category, hospitalization status and mortality.
Results: In Seremban District, there were 65 879 confirmed cases of COVID-19 in 2021. The data revealed that the
21–30-year age group had the highest proportion of cases (16 365; 24.8%), the majority of cases were male (58.3%), and most cases were from the sub-district of Ampangan (23.1%). The majority of cases were Malaysian. Over half (53.5%) were symptomatic, with fever (29.8%) and cough (22.8%) being the most frequently reported symptoms. COVID-19 vaccination status was significantly associated with severity category, hospitalization and mortality (P < 0.001 for all categories).
Discussion: This is the first study to describe two-dose vaccination coverage and the trend in COVID-19 cases in Seremban District. It was observed that COVID-19 cases had been reduced following more than 60.0% vaccination coverage.
6.The quality of older adults'involvement in clinical communication with general practitioners:evidence from rural towns in Australia
Hamiduzzaman MOHAMMAD ; Siddiquee NOORE ; Gaffney James HARRY ; Rahman Aziz MUHAMMAD ; Greenhill JENNENE
Global Health Journal 2023;7(4):186-193
Objective:A study was conducted about the putative links of older rural Australians'health knowledge and preparation with their quality of involvement in patient-general practitioner(GP)communication during health intake visits. Methods:It was a cross-sectional study between January 2021 and April 2022.The 32-item quality of involve-ment in communication scale was designed and incorporated into the Survey Gizmo software.This online survey was administered by sending an email request to the Renmark Rotary Club,which actively promoted this study across five rural towns in South Australia.121 participants completed the surveys.Mean-sum scores were cal-culated based on the questionnaire responses to evaluate outcomes,specifically initiation of information,active participation,and emotional expression.We employed different methods including t-tests,ANOVA,and leaner regressions to analyse data. Results:The demographic profile of participants characterised by a female predominance(58.7%,71/121),a ma-jority falling within the 65-<70 age bracket(47.1%,57/121),and a high level of educational attainment(58.7%had completed high school or higher,71/121).Additionally,35%of the participants predominantly spoke a lan-guage other than English at home.Regarding the initiation of information with GPs,the mean sum-score was(20.5±3.7),indicating a marginally above-average level of engagement.Contrarily,the active participation was suboptimal,as suggested by a mean sum score of(35.9±6.3).Furthermore,the emotional expression was rela-tively low,with a mean score of(13.9±1.8).Substantial variations were discerned in the quality of patient-GP communication,contingent upon factors such as educational background,language spoken at home,health lit-eracy,and preparatory measures for clinical visits.Participants who predominantly spoke a language other than English at home demonstrated significantly lower levels of information initiation with their GPs(P<0.001).Higher educational attainment was positively correlated with increased active participation(P<0.001).En-hanced health literacy and thorough visit preparation were significantly associated with increased levels of active participation(P<0.001). Conclusion:Meaningful engagement through recognition,empowerment,and support(health literacy pro-grams)for older rural adults is suggested for improving their quality of involvement in communication with GPs.
7.Outbreak of foodborne disease in a boarding school, Negeri Sembilan state, Malaysia, 2021
Nur Nadiatul Asyikin Bujang ; Mohd Shahrol Abd Wahil ; Siti Aishah Abas ; Khairul Hafidz Alkhair Khairul Amin ; Nadiatul Ima Zulkifli ; Sharina Mohd Shah ; Nurul Fazilah Aziz ; Syuaib Aiman Amir Kamarudin ; Veshny Ganesan ; Nur Azieanie Zainuddin ; Muhammad Hazizi Muhamad Hasani ; Noor Khalili Mohd Ali ; Mohammad Paid Yusof
Western Pacific Surveillance and Response 2023;14(3):30-36
Objective: Foodborne disease is a significant global public health concern, with Bacillus cereus being a frequent cause of outbreaks. However, due to the relatively mild symptoms caused by infection with B. cereus, the shorter duration of illness and the challenges of testing for it in both stool and food samples, outbreaks are often underreported. This report describes the epidemiology of cases of foodborne illness, the causative agent and risk factors associated with an outbreak in a boarding school in Seremban district, Negeri Sembilan state, Malaysia, that occurred in November 2021.
Methods: Epidemiological, environmental and laboratory investigations were performed. A case was defined as any person with abdominal pain, vomiting or diarrhoea that occurred after consuming food served by the canteen at the school. The data were analysed using Microsoft Excel and the Statistical Package for the Social Sciences (SPSS).
Results: A total of 152 cases were identified among the 597 students, giving an attack rate of 25.5%. All cases were females aged 13–17 years. They presented with abdominal pain (100%), nausea (97.4%, 148), vomiting (78.3%, 119) or diarrhoea (61.8%, 94), or a combination of these. The mode of transmission of the outbreak was a continual common source. The foods associated with becoming a case were beef rendang (a dry curry) (odds ratio [OR]: 20.54, 95% CI: 4.89–86.30), rice (OR: 19.62, 95% CI: 2.62–147.01), rice cubes (OR: 18.17, 95% CI: 4.31–76.55) and vermicelli (OR: 17.02, 95% CI: 4.03–71.86). Cross-contamination and inadequate thawing and storage temperatures contributed to the outbreak.
Discussion: This outbreak of foodborne illness at a boarding school was likely caused by B. cereus. The findings highlight the importance of proper food preparation, temperature monitoring, hygiene practices among food handlers and compliance with food safety guidelines.
8.Colorectal carcinoma and chronic inflammatory demyelinating polyneuropathy: is there a possible paraneoplastic association?
Adnan MALIK ; Faisal INAYAT ; Muhammad Hassan Naeem GORAYA ; Gul NAWAZ ; Ahmad MEHRAN ; Atif AZIZ ; Saad SALEEM
Clinical Endoscopy 2023;56(2):245-251
A plethora of paraneoplastic syndromes have been reported as remote effects of colorectal carcinoma (CRC). However, there is a dearth of data pertaining to the association of this cancer with demyelinating neuropathies. Herein, we describe the case of a young woman diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP). Treatment with intravenous immunoglobulins and prednisone did not improve her condition, and her neurological symptoms worsened. Subsequently, she was readmitted with exertional dyspnea, lightheadedness, malaise, and black stools. Colonoscopy revealed a necrotic mass in the ascending colon, which directly invaded the second part of the duodenum. Pathologic results confirmed the diagnosis of locally advanced CRC. Upon surgical resection of the cancer, her CIDP showed dramatic resolution without any additional therapy. Patients with CRC may develop CIDP as a type of paraneoplastic syndrome. Clinicians should remain cognizant of this potential association, as it is of paramount importance for the necessary holistic clinical management.
9.Cytotoxic Activity of Ethanolic Extract Aquilaria malaccensis Leaves Against MCF-7 Cells
Muhammad Yusran Abdul Aziz ; Syed Ahmad Tajudin Tuan Johari ; Wan Nur Amalina Wan Mamat ; Wan Rohani Wan Taib ; Ahmad Syibli Othman ; Mohd Adzim Khalili Rohin
Malaysian Journal of Medicine and Health Sciences 2023;19(No.6):215-221
Introduction: Aquilaria malaccensis, also known as “Pokok Karas” in Malaysia, is widely used in Southeast Asian
countries for the treatment of joint pain, diarrhoea and inflammatory diseases, and has shown beneficial effects as
an anticancer agent. The aim of this study was to investigate the effect of ethanol leaf extracts of A. malaccensis on
MCF-7 cells. Methods: MTT-based cytotoxic and antiproliferative assay was used to determine the outcome of ethanolic extract toward MCF-7 cells. The mode of cell death was determined by the AO/PI double staining assay and
the depolarisation of the mitochondria membrane potential. Results: IC50 value of the extract against MCF-7 cells
treated for 72 hours was 4.1 ± 2.08 µg/mL, while the IC50 value for doxorubicin was 2.92 ± 0.12 µg/mL. The extract
showed a lower cytotoxic effect against the NIH/3T3 cells and inhibited the growth of MCF-7 cells in a dose dependent manner. AO/PI double stain showed that the ethanolic extract of A. malaccensis leaves induced MCF-7 cells
into apoptotic cell death. The present study showed that the ethanolic extract of A. malaccensis induced apoptosis
through mitochondrial pathway as indicated by its ability to take up JC-1. Conclusion: The study found that ethanolic
extract obtained from A. malaccensis leaves is cytotoxic on MCF-7 cells, resulting to apoptotic cell death of the cells.
10.‘FAKE BRACES’: A CONTENT ANALYSIS OF INSTAGRAM POSTS BY UNLICENSED PROVIDERS
Nor Azlida Mohd Nor ; Muhammad Husaini Ab Aziz ; Chanthiriga Ramasindarum ; Yasmin Kamarudin
Journal of University of Malaya Medical Centre 2023;26(1):135-142
“Fake braces” is a term used to describe fixed orthodontic appliances that are fitted by unlicensed providers. This trend has raised public health concerns in certain countries with marketing typically undertaken on social media. We aimed to investigate the frequency and nature of Instagram posts by fake braces providers in Malaysia. Initial screening of Instagram accounts was performed using relevant hashtags (#fakebraces, #cheapbraces). Public Instagram accounts that fulfilled the inclusion criteria were assigned a code with posts evaluated over a one-month period. Data were coded and analysed using thematic analysis. Frequency distribution was calculated using Microsoft Excel. Thirty-eight Instagram accounts were analysed. 2831 images/videos were posted, receiving 7165 likes with videos being viewed 21, 918 times. The majority of posts were related to fake braces services (36.7%), followed by non-relevant posts (29.4%) and other services (14.5%). Services were provided mainly at home (44.7%) or offered both home and door-to-door services (23.7%). Although the posts on promotions were less frequent (5.4%), the displayed prices were low (RM150 to RM500), offering additional packages and discounts. Unlicensed providers have a variety of content to engage with social media audiences. Efforts should be made to increase public awareness, directing them towards reliable information about orthodontic services.
Orthodontics


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