1.Impact of Early Testing and Analysis of Germline Genetic Mutation in Patients with Breast Cancer: A Single Institution Experience
Maha ZAFAR ; Manaswini KRISHNAKUMAR ; Aswanth REDDY
Journal of Cancer Prevention 2025;30(1):41-46
Breast cancer is the most common cancer among women worldwide, with germline mutations in high-penetrance genes like BRCA1 and BRCA2, and moderate-penetrance genes such as CHEK2 and ATM contributing majorly to the onset of the same.Universal germline genetic testing offers an avenue to improve early identification and develop appropriate management guidelines. Our retrospective cohort study analyzed data from 525 newly diagnosed breast cancer patients at Mercy Hospital Fort Smith from January 2020 to December 2023. Patients underwent germline genetic testing using next-generation sequencing panels irrespective of family history of cancer. Details on patient demographics, clinical characteristics, and genetic test results were collected and analyzed. The median age at diagnosis of patients was 66, with invasive ductal carcinoma (IDC) being the major subtype (66%). CHEK2 mutations were the most common pathogenic mutations (9 patients), followed by BRCA1 and MUTYH (6 each).Pathogenic mutations were more prevalent in patients over 60 years (63%). Germline mutations were identified more frequently in IDC than in ductal carcinoma in situ. Among patients with germline mutations, there was a significant drift toward mastectomy over breast-conserving surgery. Universal germline genetic testing identified pathogenic mutations in a significant proportion of breast cancer patients, especially among the older patient population. The findings further emphasize the importance of integrating universal genetic testing into routine care to guide surgical and risk-reduction management protocols effectively. Further research is needed to regularize genetic testing in similar patients.
2.Impact of Early Testing and Analysis of Germline Genetic Mutation in Patients with Breast Cancer: A Single Institution Experience
Maha ZAFAR ; Manaswini KRISHNAKUMAR ; Aswanth REDDY
Journal of Cancer Prevention 2025;30(1):41-46
Breast cancer is the most common cancer among women worldwide, with germline mutations in high-penetrance genes like BRCA1 and BRCA2, and moderate-penetrance genes such as CHEK2 and ATM contributing majorly to the onset of the same.Universal germline genetic testing offers an avenue to improve early identification and develop appropriate management guidelines. Our retrospective cohort study analyzed data from 525 newly diagnosed breast cancer patients at Mercy Hospital Fort Smith from January 2020 to December 2023. Patients underwent germline genetic testing using next-generation sequencing panels irrespective of family history of cancer. Details on patient demographics, clinical characteristics, and genetic test results were collected and analyzed. The median age at diagnosis of patients was 66, with invasive ductal carcinoma (IDC) being the major subtype (66%). CHEK2 mutations were the most common pathogenic mutations (9 patients), followed by BRCA1 and MUTYH (6 each).Pathogenic mutations were more prevalent in patients over 60 years (63%). Germline mutations were identified more frequently in IDC than in ductal carcinoma in situ. Among patients with germline mutations, there was a significant drift toward mastectomy over breast-conserving surgery. Universal germline genetic testing identified pathogenic mutations in a significant proportion of breast cancer patients, especially among the older patient population. The findings further emphasize the importance of integrating universal genetic testing into routine care to guide surgical and risk-reduction management protocols effectively. Further research is needed to regularize genetic testing in similar patients.
3.Impact of Early Testing and Analysis of Germline Genetic Mutation in Patients with Breast Cancer: A Single Institution Experience
Maha ZAFAR ; Manaswini KRISHNAKUMAR ; Aswanth REDDY
Journal of Cancer Prevention 2025;30(1):41-46
Breast cancer is the most common cancer among women worldwide, with germline mutations in high-penetrance genes like BRCA1 and BRCA2, and moderate-penetrance genes such as CHEK2 and ATM contributing majorly to the onset of the same.Universal germline genetic testing offers an avenue to improve early identification and develop appropriate management guidelines. Our retrospective cohort study analyzed data from 525 newly diagnosed breast cancer patients at Mercy Hospital Fort Smith from January 2020 to December 2023. Patients underwent germline genetic testing using next-generation sequencing panels irrespective of family history of cancer. Details on patient demographics, clinical characteristics, and genetic test results were collected and analyzed. The median age at diagnosis of patients was 66, with invasive ductal carcinoma (IDC) being the major subtype (66%). CHEK2 mutations were the most common pathogenic mutations (9 patients), followed by BRCA1 and MUTYH (6 each).Pathogenic mutations were more prevalent in patients over 60 years (63%). Germline mutations were identified more frequently in IDC than in ductal carcinoma in situ. Among patients with germline mutations, there was a significant drift toward mastectomy over breast-conserving surgery. Universal germline genetic testing identified pathogenic mutations in a significant proportion of breast cancer patients, especially among the older patient population. The findings further emphasize the importance of integrating universal genetic testing into routine care to guide surgical and risk-reduction management protocols effectively. Further research is needed to regularize genetic testing in similar patients.
4.The Association between “Knee Movement” Method and Traditional Radiograph Positioning Procedure with the Incidence of True Lateral Knee Radiograph Achieved
John CPB ; Wendell S ; Kevin L ; Earlene TS ; Dio AR
Malaysian Orthopaedic Journal 2024;18(No.1):133-139
Introduction: This study aimed to find the association
between the Knee Movement or KM method versus the
traditional lateral knee radiograph positioning procedure and
the incidence of true lateral knee radiographs achieved.
Materials and methods: A cross-sectional study of patients
with knee problems that underwent lateral knee radiograph
using the knee movement method (KM method), starting
from March 2022 until August 2022. Fifty knee radiograph
results using the KM method (KM group) were compared to
retrospective data from fifty knee radiograph from the
patients before March 2022 using the traditional method of
lateral knee radiograph as the control (TM group). The data
were analysed using the Chi-Square test to see if the KM
method is associated with more true lateral knee radiograph
results achieved compared to the traditional procedure.
Results: Fifty patients in the KM method group had 80%
(n=40) true lateral knee radiographs and 20% (n=10) untrue
lateral knee radiographs, while in the Traditional Procedure
group from the retrospective data of 50 patients had 44%
(n=22) true lateral knee radiographs and 56% (n=28) untrue
lateral knee radiographs (P<0.05). There is no significant
association between the type of procedure applied with the
types of error (P=0.432). Nevertheless, it helps us as it gives
a gross picture that most of the errors are under-rotation of
the knee, either from the KM method Group 90% (n=9) or
the Traditional procedure Group 79% (n=22).
Conclusion: The KM method was associated with
achievement of a more true and accurate lateral knee
radiograph. Additional studies with a larger sample should
be done to evaluate the reliability of this method.
5.Measurement of very low-molecular weight metabolites by traveling wave ion mobility and its use in human urine samples
Kurilung ALONGKORN ; Limjiasahapong SUPHITCHA ; Kaewnarin KHWANTA ; Wisanpitayakorn PATTIPONG ; Jariyasopit NARUMOL ; Wanichthanarak KWANJEERA ; Sartyoungkul SITANAN ; Stephen Choong Chee Wong ; Sathirapongsasuti NUANKANYA ; Kitiyakara CHAGRIYA ; Sirivatanauksorn YONGYUT ; Khoomrung SAKDA
Journal of Pharmaceutical Analysis 2024;14(5):733-743
The collision cross-sections(CCS)measurement using ion mobility spectrometry(IMS)in combination with mass spectrometry(MS)offers a great opportunity to increase confidence in metabolite identifi-cation.However,owing to the lack of sensitivity and resolution,IMS has an analytical challenge in studying the CCS values of very low-molecular-weight metabolites(VLMs ≤ 250 Da).Here,we describe an analytical method using ultrahigh-performance liquid chromatography(UPLC)coupled to a traveling wave ion mobility-quadrupole-time-of-flight mass spectrometer optimized for the measurement of VLMs in human urine samples.The experimental CCS values,along with mass spectral properties,were reported for the 174 metabolites.The experimental data included the mass-to-charge ratio(m/z),retention time(RT),tandem MS(MS/MS)spectra,and CCS values.Among the studied metabolites,263 traveling wave ion mobility spectrometry(TWIMS)-derived CCS values(TWCCSN2)were reported for the first time,and more than 70%of these were CCS values of VLMs.The TWCCSN2 values were highly repeatable,with inter-day variations of<1%relative standard deviation(RSD).The developed method revealed excellent TWCCSN2 accuracy with a CCS difference(△CCS)within±2%of the reported drift tube IMS(DTIMS)and TWIMS CCS values.The complexity of the urine matrix did not affect the precision of the method,as evidenced by △CCS within±1.92%.According to the Metabolomics Standards Initiative,55 urinary metabolites were identified with a confidence level of 1.Among these 55 metabolites,53(96%)were VLMs.The larger number of confirmed compounds found in this study was a result of the addition of TWCCSN2 values,which clearly increased metabolite identification confidence.
6.New-onset diabetes in children during the COVID-19 Pandemic: an assessment of biomarkers and psychosocial risk factors at play in Mississippi
Josephine STOUT ; Naznin DIXIT ; Simeen PASHA ; Anju SUKUMARAN ; Ali Kemal TOPALOGLU ; Mary K. ARMSTRONG ; Padma GARG ; Cynthia KARLSON ; John T. BATES ; Md Abu Yusuf ANSARI ; Fariha KAMRAN
Annals of Pediatric Endocrinology & Metabolism 2024;29(4):234-241
Purpose:
The coronavirus disease 2019 (COVID-19) pandemic has led to an association between COVID-19 and pediatric diabetes. Studies have indicated the increased likelihood of children with COVID-19 infection developing diabetes. Our objective was to assess not only the increase in pediatric diabetes at our hospital and identify possible risk factors, but also to correlate the psychosocial changes resulting from the pandemic with new-onset diabetes.
Methods:
We analyzed data from 58 children aged 1 to 18 years admitted to our hospital with new-onset diabetes between March 2020 and December 2021. The data included inflammatory biomarkers and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) antibodies (Abs), as well as the results of a lifestyle questionnaire.
Results:
The average number of hospital admissions per month for new-onset diabetes increased from 10 to 18 with the start of the pandemic. Of the 58 children in our analysis, 33% had positive SARS-CoV-2 IgG Ab, 31% had type 1 diabetes mellitus, and 62% had type 2 diabetes mellitus (T2DM). More than half (54%) were experiencing diabetic ketoacidosis. Those with T2DM were older, majority African American, had higher median body mass index (BMI) percentiles, and lower vitamin D levels. There were no significant correlations between any psychosocial risk factors and either diabetes type or SARS-CoV2 Ab status.
Conclusion
Despite the increased incidence of new-onset diabetes among children in Mississippi during the pandemic, this study was unable to demonstrate a significant correlation between COVID-19 infection and new-onset diabetes. The findings of this study highlighted the correlation between increased BMI and type 2 diabetes, underscoring the significant problems of obesity and diabetes in our study region. Further research is warranted.
7.The Effects of Different Degrees of Leg Length Discrepancy on Vertical Ground Reaction Force in Children and Adults: Treatment Implications
Mohamed-Saaid F ; Sulaiman AR ; Munajat I ; Mohd EF ; Arifin WN ; Ghafar R
Malaysian Orthopaedic Journal 2023;17(No.3):66-72
Introduction: Previous studies on the degree of leg length
discrepancy that causes limb biomechanical problems did
not differentiate between adults and children. We conducted
this study to determine the effects of simulated leg length
discrepancy on vertical ground reaction force in children and
adults to enable decision-making for intervention in patients
with leg length discrepancy for different age groups or
heights.
Materials and methods: This cross-sectional study
involved male volunteers of children 150cm and adults with
170cm in height. Vertical ground reaction force was
measured using a gait analysis study. The first measurement
was taken without any leg length discrepancy as a baseline.
Subsequently, different amounts of leg length discrepancy
were simulated on the left leg with shoe lifts of 2, 3, and
4cm. The measurements were repeated on each volunteer
with similar shoe lifts on the right leg. Therefore, 14
volunteers provided simulations of 28 leg length
discrepancies for each group. The first and second peaks of
vertical ground reaction force were separately analysed. The
vertical GRF of a simulated leg length discrepancy was
compared with the baseline. Repeated measurement of
analysis of variance (ANOVA) within each group was done.
Results: In both groups, the second peak of vertical ground
reaction force in the longer leg reduced gradually as the shoe
lift increased sequentially from 2 to 3cm and then to 4cm. A
discrepancy of 3cm and above was statistically significant to
cause a reduction in the vertical GRF on the longer limb in
both height groups.
Conclusion: The degree of leg length discrepancy that
caused significant changes in second peak ground reaction
force in children with 150 and adults with 170cm height
population was similar at 3cm. Therefore, the cut-off point
for intervention for both groups are similar with additional
consideration of future growth in children.
8.Femoral Fracture Secondary to a Gunshot Wound Leading to Chronic Expanding Hematoma with Osteomyelitis - An Unusual Presentation of a Pseudotumour: A Case Report
Malaysian Orthopaedic Journal 2023;17(No.3):80-83
A chronic expanding hematoma (CEH) is a rare
clinicopathologic entity that may simulate the clinical and
radiologic presentation of soft tissue sarcomas. Etiology has
been attributed to repeated exudation and bleeding from
capillaries in granulation tissue, resulting in a gradually
enlarging mass. A 51-year-old male presented with a large
thigh mass following a gunshot wound one year prior.
Diagnostic imaging revealed a large complex mass with
cystic areas overlying cortical erosions in the femoral
diaphysis suggestive of osteomyelitis versus a primary
aggressive new growth. Biopsy confirmed CEH and the
absence of malignant cells. Hip disarticulation was
performed after noting massive necrosis of the thigh
compartments and neurovascular compromise. CEH is an
important differential diagnosis to be considered in a patient
with a slow-growing soft tissue mass and history of
significant trauma. Its similar clinical presentation with a
soft tissue sarcoma necessitates a high index of suspicion,
diagnostic imaging, and biopsy prior to performing
definitive surgery.
9.Nanomaterial-Based Scaffolds for Tissue Engineering Applications: A Review on Graphene, Carbon Nanotubes and Nanocellulose
Gurshagan KANDHOLA ; Sunho PARK ; Jae-Woon LIM ; Cody CHIVERS ; Young Hye SONG ; Jong Hoon CHUNG ; Jangho KIM ; Jin-Woo KIM
Tissue Engineering and Regenerative Medicine 2023;20(3):411-433
Nanoscale biomaterials have garnered immense interest in the scientific community in the recent decade. This review specifically focuses on the application of three nanomaterials, i.e., graphene and its derivatives (graphene oxide, reduced graphene oxide), carbon nanotubes (CNTs) and nanocellulose (cellulose nanocrystals or CNCs and cellulose nanofibers or CNFs), in regenerating different types of tissues, including skin, cartilage, nerve, muscle and bone. Their excellent inherent (and tunable) physical, chemical, mechanical, electrical, thermal and optical properties make them suitable for a wide range of biomedical applications, including but not limited to diagnostics, therapeutics, biosensing, bioimaging, drug and gene delivery, tissue engineering and regenerative medicine. A state-of-the-art literature review of composite tissue scaffolds fabricated using these nanomaterials is provided, including the unique physicochemical properties and mechanisms that induce cell adhesion, growth, and differentiation into specific tissues. In addition, in vitro and in vivo cytotoxic effects and biodegradation behavior of these nanomaterials are presented. We also discuss challenges and gaps that still exist and need to be addressed in future research before clinical translation of these promising nanomaterials can be realized in a safe, efficacious, and economical manner.
10.Forecasting the effects of vaccination on the COVID-19 pandemic in Malaysia using SEIRV compartmental models
Mei Cheng LIM ; Sarbhan SINGH ; Chee Herng LAI ; Balvinder Singh GILL ; Mohd Kamarulariffin KAMARUDIN ; Ahmed Syahmi Syafiq MD ZAMRI ; Cia Vei TAN ; Asrul Anuar ZULKIFLI ; Mohamad Nadzmi Md NADZRI ; Nur'ain MOHD GHAZALI ; Sumarni MOHD GHAZALI ; Nuur Hafizah MD IDERUS ; Nur Ar Rabiah Binti AHMAD ; Jeyanthi SUPPIAH ; Kok Keng TEE ; Tahir ARIS ; Lonny Chen Rong Qi AHMAD
Epidemiology and Health 2023;45(1):e2023093-
OBJECTIVES:
This study aimed to develop susceptible-exposed-infectious-recovered-vaccinated (SEIRV) models to examine the effects of vaccination on coronavirus disease 2019 (COVID-19) case trends in Malaysia during Phase 3 of the National COVID-19 Immunization Program amidst the Delta outbreak.
METHODS:
SEIRV models were developed and validated using COVID-19 case and vaccination data from the Ministry of Health, Malaysia, from June 21, 2021 to July 21, 2021 to generate forecasts of COVID-19 cases from July 22, 2021 to December 31, 2021. Three scenarios were examined to measure the effects of vaccination on COVID-19 case trends. Scenarios 1 and 2 represented the trends taking into account the earliest and latest possible times of achieving full vaccination for 80% of the adult population by October 31, 2021 and December 31, 2021, respectively. Scenario 3 described a scenario without vaccination for comparison.
RESULTS:
In scenario 1, forecasted cases peaked on August 28, 2021, which was close to the peak of observed cases on August 26, 2021. The observed peak was 20.27% higher than in scenario 1 and 10.37% lower than in scenario 2. The cumulative observed cases from July 22, 2021 to December 31, 2021 were 13.29% higher than in scenario 1 and 55.19% lower than in scenario 2. The daily COVID-19 case trends closely mirrored the forecast of COVID-19 cases in scenario 1 (best-case scenario).
CONCLUSIONS
Our study demonstrated that COVID-19 vaccination reduced COVID-19 case trends during the Delta outbreak. The compartmental models developed assisted in the management and control of the COVID-19 pandemic in Malaysia.


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