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The pathway followed by psychotic patients to a tertiary health center in a developing country: a comparison with patients with epilepsy

Razali SM, Mohd Yasin MA

Epilepsy Behav, 2008 Aug;13(2):343-9.
PMID: 18514034 DOI: 10.1016/j.yebeh.2008.04.009

The objective of this study was to describe and compare the pathways followed by Malay patients with psychoses (schizophrenia and schizophreniform disorder) and Malay patients with epilepsy to a tertiary health center in the northeastern area of peninsular Malaysia. There were 60 patients in each group. The most popular pathway for both groups was first contact with traditional or alternative healers. Consultation with Malay traditional healers (bomohs) and/or homeopathic practitioners (44.2%) was significantly higher for psychotic patients (61.7%) than for patients with epilepsy (26.7%) (chi(2)(2)=15.609, P<0.001). Direct access (24.2%) was the second most popular pathway and almost equally followed by both groups of patients. The third and last pathway was initial contact with private general practitioners and government doctors, respectively. Patients with epilepsy dominated the last two pathways. The treatment delay (TD) was significantly longer in epileptic than psychotic patients regardless of their visit to a bomoh and/or homeopathic practitioner (P<0001) or not (p<0.01). The socioeconomic status of psychotic patients also was significantly better than people with epilepsy (chi(2)=9.957, chi(2)(4), p=0.041).

Study site: Psychiatric clinic, Hospital Universiti Sains Malaysia HUSM
Invasive aspergillosis--a rabbit model

Abdul Samad S, Yasin MS, Arumugham G, Yap KL

Malays J Pathol, 1993 Dec;15(2):119-23.
PMID: 8065172

An invasive aspergillosis model in rabbits was attempted using 3 concentrations of A. fumigatus conidia. Conidia concentrations of 1 x 10(6), 1 x 10(7) and 1 x 10(8) were inoculated intravenously into rabbits. The severity of infection was directly proportional to the inoculum size of the conidia. Aspergillus fumigatus was isolated from livers, kidneys, spleens, hearts and lungs of infected rabbits at a rate of 82%, 75%, 57%, 54% and 32% respectively. Cultures of urine specimens taken by bladder tap were positive for A. fumigatus in 30% of the rabbits tested. Blood cultures using the Bactec Fungal System (Becton Dickinson Corp., USA) failed to isolate A. fumigatus in 20 rabbits with biopsy-proven invasive apergillosis. Active infection with high fungal tissue burden occurred between 2-4 days after infection in rabbits inoculated with 1 x 10(7) conidia.
Salmonella agglutinins in normal adult sera in an endemic area

Jamal F, Yasin MS, Abdullah R, Mokhtar N

J Diarrhoeal Dis Res, 1986 Jun;4(2):74-6.
PMID: 3571875
Fulltext Highly sensitive detection of low-concentration sodium chloride solutions based on a gold-coated prism in Kretschmann setup

Na'imah S, Apsari R, Masruroh, Yasin M, Wadi Harun S

Heliyon, 2024 Jun 30;10(12):e32349.
PMID: 38975194 DOI: 10.1016/j.heliyon.2024.e32349

A gold-coated Kretschmann setup has been constructed and explored as a surface plasmon resonance (SPR) platform, specifically tailored for the detection of low-concentration sodium chloride (NaCl) solutions. The setup employs a BK7 prism coated with a 50 nm gold layer, serving as a plasmonic layer, to induce resonance. This resonance arises from the interplay between light waves and free electrons propagating at the interface of two media. The experimental findings reveal a notable resonance angle shift of 10° when the NaCl concentration is varied from 0 to 2.5 %. Furthermore, angle interrogation provides insightful details about the sensor's response to changes in the refractive index, showcasing a commendable sensitivity of 2400°/RIU, a high level of linearity at 0.9771, and an impressive resolution of 0.217 %. The demonstrated capabilities of this sensor underscore its potential for widespread applications, particularly in the monitoring of salt concentration across diverse domains such as seawater analysis, food processing, and fermentation processes. The robust performance and precision of this proposed sensor position it as a valuable tool with promising prospects for addressing the needs of various industries dependent on accurate salt concentration measurements.
Fulltext Management of pulmonary tuberculosis in health clinics in the Gombak district: How are we doing so far?

Ariffin F, Ahmad Zubaidi AZ, Md Yasin M, Ishak R

Malays Fam Physician, 2015;10(1):26-33.
PMID: 26425292 MyJurnal

This audit report assessed the structure, processes and outcome of the pulmonary tuberculosis (PTB) management in adults conducted at eight government health clinics within the high TB burden Gombak district. All newly diagnosed PTB patients from November 2012 to November 2013 were identified from the tuberculosis registry. Patients less than 18 years old, were transferred out or extrapulmonary tuberculosis was excluded from the study. The assessment criteria for PTB were defined according to the latest Malaysian TB clinical practice guidelines (TB CPG) 2012. A total of 117 patients were included in this report and data were extracted and analysed using SPSS version 20.0. The mean age of patients was 40.4 ± 14.4 SD. Majority was men (63.2%). Out of 117 patients, 82.1% were Malaysian citizens and 17.9% were foreigners. Malays were the majority (65%) followed by 7.7% Chinese, 10.3% Indian and 17.1% others. The most common clinical feature was cough (88.0%) followed by loss of weight (58.1%), loss of appetite (57.3%), fever (56.4%), night sweat (30.8%) and haemoptysis (32.5%). Acid-fast bacilli (AFB) smear was positive in 94% of cases. Chest X-ray and human immunodeficiency virus (HIV) screening results were available for 89.1 and 82.1% cases respectively. The results for the sputum culture were available in 27.4% of patients and 54.7% were documented as done but pending results. The clinics have a successful directly observed therapy (DOT) program with 94.0% patients documented under DOT. Out of 53 patients on maintenance phase, 47.2% were identified as cured. Cure rate for those completed treatment was 100%. The defaulter rate was 17.1%. This audit demonstrated the attempt made by the clinics to adhere to the recommended guidelines. However, improvements are to be made in the documentation of medical records, tracing of investigation results and reduction of the number of defaulters.
Group A streptococcal infections in hospitalized patients

Jamal F, Pit S, Kasni S, Yasin MS, Aton SB, Singh K

Adv Exp Med Biol, 1997;418:35-7.
PMID: 9331592
Fulltext Validation study of the Parent Attitudes About Childhood Vaccines (PACV) questionnaire: the Malay version

Abd Halim H, Abdul-Razak S, Md Yasin M, Isa MR

Hum Vaccin Immunother, 2020 05 03;16(5):1040-1049.
PMID: 31567057 DOI: 10.1080/21645515.2019.1674112

Vaccine hesitant parents are linked with re-emergence of vaccine preventable diseases, but evidence is scarce locally. The Parent Attitudes about Childhood Vaccines (PACV) questionnaire was validated and used in the USA to identify vaccine hesitant parents. This study aimed to adapt and translate the 15-item PACV questionnaire from English into the Malay language, and to examine its validity and reliability. The sample population was parents of children aged 0-24 months, recruited at an urban government health clinic between November 2016-June 2017. During content validation, two items from the "Behavior" subdomain were identified as items with formative scale and excluded from exploratory factor analysis (EFA) but retained as part of demography. A total of 151 parents completed the questionnaire with response rate of 93.3%. Test-retest reliability was tested in 25 respondents four weeks later and the intra-class correlation was between 0.53 and 1.00. EFA of the 13 items showed possibility of two to four factor domains, but three domains were most conceptually equivalent. Two of the domains were similar to the original and one factor was identified de novo. One item was deleted due to poor factor loading of < 0.3. Therefore, the validated final PACV-Malay consisted of 12 items framed within three-factor domains. The PACV-Malay was reliable with total Cronbach alpha of 0.77. In conclusion, the PACV-Malay is a valid and reliable tool which can be used to identify vaccine hesitant parents in Malaysia. Confirmatory factor analysis and predictive validity are recommended for future studies.
Fulltext The association between health literacy and quality of life and its associated factors among adults with type 2 diabetes mellitus in public primary care clinic

Shibraumalisi NA, Mat Nasir N, Md Yasin M, Isa MR

Journal of Clinical and Health Sciences, 2020;5(1):60-74.
MyJurnal

Introduction: Low health literacy (HL) is one of the contributing factors that leads to negative diabetic outcome. Quality of life (QOL) is a state of complete physical, mental and social wellbeing. There is limited evidence on association of HL and QOL among type 2 diabetes mellitus (T2DM), therefore the objectives of this study were to identify the HL and QOL status, to determine the association between HL and QOL and factors associated with QOL among T2DM patients.
Methods: This was a cross sectional study involving patients with T2DM from two public primary care clinics. HL and QOL were measured using translated and validated HLS – Asia Q16 and DQoL-BCI questionnaires respectively among T2DM patients.
Results: The mean HL score was 12.39 (3.34), 17.7 % had “inadequate HL”, 25.7% had “problematic HL” and 56.6% had “sufficient HL”. The mean DQoL-BCI score was 32.09 (6.51). Lower QOL level was negatively associated with age (b -0.140; CI: -0.190, - 0.090; p<0.001), not obese (b -1.476; CI: -2.605, - 0.347; p<0.011), and HL level (b -0.425; CI: -0.59, - 0.259; p<0.001). Lower QOL level was positively associated with uncontrolled glycaemic status (HbA1c >6.5%) (b 1.308; CI: -0.042, 2.659; p<0.058), treatment with insulin (b 4.163; CI:1.538, 6.788; p<0.002) and combination treatment of insulin and oral hypoglycaemic agents (OHA) (b 2.450; CI:1.145, 3.756; p<0.001).
Conclusions: This study demonstrated that age, body mass index, HL, glycaemic control, treatment with OHA and insulin were significantly associated with QOL. This suggest the importance of identifying high risk patients with poor QOL for targeted intervention.
KEYWORDS: Health Literacy, Quality of Life, Type 2 Diabetes Mellitus, Primary Care, Malaysia
Study site: Two public primary care clinics (klinik kesihatan), Gombak district, Selangor, Malaysia
Fulltext Ultrafast fiber laser at 1570 nm based on organic material as saturable absorber

Al-Hiti AS, Tiu ZC, Yasin M, Harun SW

Sci Rep, 2022 Aug 02;12(1):13288.
PMID: 35918510 DOI: 10.1038/s41598-022-17724-9

In this work, we demonstrated Poly(3,4-ethylenedioxythiophene): poly(styrenesulfonate) (PEDOT: PSS) as a saturable absorber (SA) to produce mode-locking operation in different length of Erbium-doped fiber laser (EDFL). The PEDOT: PSS was embedded into polyvinyl alcohol to form a thin film that acts as an absorber into the laser setup. The three different mode-locked EDFL were successfully demonstrated with different cavity length and output coupler ratio. The pulse repetition rate/width of 3.417 MHz/710 fs, 4.831 MHz/510 fs, and 6.049 MHz/460 fs were obtained by utilizing optical coupler/ cavity length of 20:80/60.7 m, 10:90/42.7 m, and 5:95/33.7 m, respectively. All experiments generated a stable and mode-locked operation at a central wavelength of 1570.76 nm, 1570.3 nm, and 1569.95 nm with 3 dB bandwidth of 4.8 nm, 5.6 nm, and 6.5 nm, respectively. The long-time stability of the ultrafast fiber lasers was investigated for each setup via 120 min. The proposed PEDOT: PSS has proven as a promising material to induce mode-locking operation in different fiber laser setup.
Fulltext The association between HIV-related stigma, HIV knowledge and HIV late presenters among people living with HIV (PLHIV) attending public primary care clinic settings in Selangor

Bin Ahmad MZ, Md Yasin M, Mat Nasir N, Mohamad M

PLoS One, 2024;19(7):e0306904.
PMID: 39037975 DOI: 10.1371/journal.pone.0306904

INTRODUCTION: HIV late presenters were defined as individuals presenting with a CD4 count below 350 cells/μL or with an AIDS-defining event, according to the European Late Presenter Consensus working group. Early diagnosis and treatment of HIV have proven beneficial for people living with HIV (PLHIV), reducing the burden on healthcare systems, and contributing to ending the HIV/AIDS epidemic. However, in Malaysia, over 50% of newly diagnosed HIV patients present late, leading to increased morbidity and premature mortality. This study aims to determine the prevalence of late HIV presenters and its association with HIV-related stigma and HIV knowledge among PLHIV attending public primary care clinics in Selangor.
METHODS: A cross-sectional study was conducted at selected public health clinics in Selangor, involving PLHIV aged 18 years and older, who were diagnosed since 2019. HIV-related stigma was measured using the Malay version of Berger's HIV Stigma Scale, and HIV knowledge was assessed using the Malay version of Brief HIV-KQ-18. Univariate and multivariate logistic regression analyses were performed to identify factors associated with late HIV presentation.
RESULTS: A total of 400 participants were included in the study, with 60.0% (n = 240, 95% CI: 55.0-65.0) classified as late presenters. The participants had a mean age of 30.29 (±7.77) years. The risk factors for late presenters were high levels of HIV-related stigma (aOR = 1.049, 95% CI: 1.034-1.063, p-value <0.001), low levels of HIV knowledge (aOR = 0.709, 95% CI: 0.646-0.778, p-value <0.001), tertiary education background (aOR = 15.962, 95% CI: 1.898-134.235, p-value = 0.011), and being single (aOR = 3.582, 95% CI: 1.393-9.208, p-value = 0.008).
CONCLUSION: This study highlights the association between high levels of HIV-related stigma, low levels of HIV knowledge, and late HIV presentation. Interventions targeting stigma reduction and HIV education can promote early testing and prompt access to care, improving health outcomes for PLHIV.
Fulltext Feasibility of fiber optic displacement sensor scanning system for imaging of dental cavity

Rahman HA, Che Ani AI, Harun SW, Yasin M, Apsari R, Ahmad H

J Biomed Opt, 2012 Jul;17(7):071308.
PMID: 22894469 DOI: 10.1117/1.JBO.17.7.071308

The purpose of this study is to investigate the potential of intensity modulated fiber optic displacement sensor scanning system for the imaging of dental cavity. Here, we discuss our preliminary results in the imaging of cavities on various teeth surfaces, as well as measurement of the diameter of the cavities which are represented by drilled holes on the teeth surfaces. Based on the analysis of displacement measurement, the sensitivities and linear range for the molar, canine, hybrid composite resin, and acrylic surfaces are obtained at 0.09667 mV/mm and 0.45 mm; 0.775 mV/mm and 0.4 mm; 0.5109 mV/mm and 0.5 mm; and 0.25 mV/mm and 0.5 mm, respectively, with a good linearity of more than 99%. The results also show a clear distinction between the cavity and surrounding tooth region. The stability, simplicity of design, and low cost of fabrication make it suitable for restorative dentistry.
Evaluation of gram-chromotrope kinyoun staining technique: its effectiveness in detecting microsporidial spores in fecal specimens

Salleh FM, Al-Mekhlafi AM, Nordin A, Yasin 'M, Al-Mekhlafi HM, Moktar N

Diagn Microbiol Infect Dis, 2011 Jan;69(1):82-5.
PMID: 21146718 DOI: 10.1016/j.diagmicrobio.2010.08.028

This study was conducted to evaluate the modification of the usual Gram-chromotrope staining technique developed in-house known as Gram-chromotrope Kinyoun (GCK) in comparison with the Weber Modified Trichrome (WMT) staining technique; as the reference technique. Two hundred and ninety fecal specimens received by the Microbiology Diagnostic Laboratory of Hospital Universiti Kebangsaan Malaysia were examined for the presence of microsporidial spores. The sensitivity and specificity of GCK compared to the reference technique were 98% and 98.3%, respectively. The positive and negative predictive values were 92.5% and 99.6%, respectively. The agreement between the reference technique and the GCK staining technique was statistically significant by Kappa statistics (K = 0.941, P < 0.001). It is concluded that the GCK staining technique has high sensitivity and specificity in the detection of microsporidial spores in fecal specimens. Hence, it is recommended to be used in the diagnosis of intestinal microsporidiosis.
Fulltext The Agony of the Mystical Practice of Susuk: A Case Report

Rusly MFR, Md Yasin M, Kamaruddin KN, Nasir NMNM, Mat Nor K

Am J Case Rep, 2022 Oct 24;23:e937633.
PMID: 36279262 DOI: 10.12659/AJCR.937633

BACKGROUND Charm needle, otherwise known as susuk, is a needle-shaped pin inserted subcutaneously into various body parts. It is most commonly inserted by shamans in the orofacial region to grant magical powers to the wearer, such as health, wealth, beauty, and other benefits. These talismans are prevalent among women in South-East Asia countries. CASE REPORT A 75-year-old woman presented with recurrent musculoskeletal symptoms over multiple sites, but physical assessment only revealed mild tenderness over the right hip joint. A plain pelvic radiograph showed incidental findings of susuk around the genital regions, with older skull and pelvic radiograph displaying similar findings. The patient had a susuk insertion more than 20 years ago for marriage stability and beauty. After this incidental discovery, the patient had repeated visits to the clinic to request more imaging to determine whether the susuk were still present after the shaman's attempted mystical removal. She also developed persistent preoccupation, worry, and guilt related to the susuk presence and was referred to psychiatry for further assessment. She was diagnosed with generalized anxiety disorder. She was then started on psychotherapy and pharmacological treatment, with simultaneous spiritual therapy. CONCLUSIONS This case report describes the link between susuk implantation and psychological illness. Even though there are no reports that specifically correlate susuk with generalized anxiety disorder, it has been established that guilt and shame have a strong relationship with anxiety.
Fulltext Physical Activity in Malaysia: Are We Doing Enough? Findings from the REDISCOVER Study

Nik-Nasir NM, Md-Yasin M, Ariffin F, Mat-Nasir N, Miskan M, Abu-Bakar N, et al.

Int J Environ Res Public Health, 2022 Dec 15;19(24).
PMID: 36554769 DOI: 10.3390/ijerph192416888

Physical activity (PA) in the form of structured or unstructured exercise is beneficial for health. This paper aims to study PA levels across four domains according to the International Physical Activity Questionnaire (IPAQ) and its associated factors. A total of 7479 Malaysian adult participants between 18 to 90 years old from the REDISCOVER study who completed the IPAQ were analyzed. PA was calculated as MET-min per week and were categorized according to insufficiently active, sufficiently active and very active. Multinomial regression was used to determine the association between sociodemographic, clinical factors and the level of PA. The mean age of the participants was 51.68 (±9.5 SD). The total reported physical activity in median (IQR) was 1584.0 (0-5637.3) MET-min per week. The highest total for PA was in the domestic domain which is 490 (0-2400) MET-min per week. Factors associated with sufficiently active or very active PA include Malay ethnicity, no formal education, elementary occupation, current smokers and high HDL. Whereas low income, male and normal BMI are less likely to participate in sufficiently active or very active PA. Intervention to encourage higher PA levels in all domains is important to achieve recommended PA targets.
Fulltext A Case of Linear Scleroderma in a Young Child: A Diagnosis Easily Missed in Primary Care

Bin Ahmad MZ, Mat Nasir N, Md Yasin M, Yusof ANM, Bakrin IH, Lim SC

Am J Case Rep, 2023 May 19;24:e940148.
PMID: 37202915 DOI: 10.12659/AJCR.940148

BACKGROUND This case illustrates the challenges in diagnosing linear scleroderma (LS) in a child who presented to a primary care setting. Diagnosis of LS is easily missed due to the lack of prominent symptoms, subtle visible skin changes, and under-recognition of this condition. CASE REPORT A 7-year-old boy presented with a linear, painless, non-itchy rash at the center of his forehead, which has been present for 6 months. The rash extends vertically from the hairline to the bridge of the nose. The color gradually evolved from reddish to purplish-grey and shiny within 3 months. He had underlying eczema, allergic rhinitis, and allergic conjunctivitis since birth. His condition remained unrecognized despite consultations with various medical specialties, including family medicine specialist, ophthalmologist, otorhinolaryngologist, and a general pediatrician. Six months after the onset of his lesion, he was subsequently referred to a pediatric dermatologist and pediatric rheumatologist, who made the diagnosis of LS. Laboratory investigations for autoimmune disease showed that negative antinuclear antibodies (ANA) and inflammatory markers, including erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP), were normal. Skin biopsy provided a tissue confirmation of the diagnosis. MRI of the lesion showed no extension into the underlying muscle or bone erosions. The patient was initially treated with intravenous (IV) methylprednisolone for 3 days, followed by oral methotrexate weekly and prednisolone. The lesion improved after 1 month of treatment, and after 15 months it was less pigmented and less noticeable. CONCLUSIONS LS is the commonest form of localized scleroderma in children. LS on the forehead can erode into the underlying tissues and is sometimes associated with extensive hemifacial atrophy. Treatment should be instituted early to prevent late irreversible fibrotic sequelae. This report aims to highlight the importance of early diagnosis and treatment of an uncommon but potentially disfiguring condition.
Fulltext The Elusive Primary: Metastatic Adenocarcinoma of the Breast Presenting Solely as a Hard Sternal Mass

Mohd Omar R, Ismail IA, Md Yasin M, Ahmad Affandi K, Hasbullah HH, Mohamad Ali ND

Am J Case Rep, 2023 Aug 23;24:e940594.
PMID: 37608536 DOI: 10.12659/AJCR.940594

BACKGROUND Carcinoma of unknown primary (CUP) is a diverse category of malignancies diagnosed in patients who have metastatic disease but without an identifiable primary tumor at initial presentation. CASE REPORT We report a case of CUP which was later diagnosed to be metastatic adenocarcinoma of the breast in a 62-year-old woman. The patient initially presented to a primary care clinic with an incidental finding of a small hard mass in the middle of the sternum, with no other clinical findings in the breast or axillary lymph nodes. Chest X-ray, ultrasound, and CT scan of the sternum suggested a benign sternal lesion, and a mammogram was normal. Due to the persistence of the mass, a biopsy was performed. The histopathological findings revealed a metastatic adenocarcinoma, most likely from breast origin, with positive estrogen receptor (ER) and mammaglobin on immunohistochemistry studies. The patient subsequently underwent PET scan, repeat mammogram, and MRI of the breast. Following high uptake in the rectum on PET, a colonoscopy was performed, revealing a suspicious rectal mass. The mass was surgically excised, and the final histopathological examination concluded the mass was a second primary adenocarcinoma of the rectum. Genetic analyses for BRCA1 and BRCA2 were negative. CONCLUSIONS This is a rare case of an isolated bone-like lesion on the sternum due to metastatic adenocarcinoma of the breast in a patient with no prior history of breast cancer and lacking any clinical or radiological evidence of breast or axillary lymph node lesions on presentation. The patient was also subsequently diagnosed with 2 primary carcinomas. Thorough clinical examination, extensive radiological investigations, laboratory investigations, histopathological examination, and a multidisciplinary approach are essential in managing CUP.
Fulltext A nationwide survey on the expectation of public healthcare providers on family medicine specialists in Malaysia-a qualitative analysis of 623 written comments

Chew BH, Cheong AT, Ismail M, Hamzah Z, A-Rashid MR, Md-Yasin M, et al.

BMJ Open, 2014 Jun 11;4(6):e004645.
PMID: 24919639 DOI: 10.1136/bmjopen-2013-004645

OBJECTIVE: To examine the expectation of public healthcare providers/professionals (PHCPs) who are working closely with family medicine specialists (FMSs) at public health clinics.
DESIGN: Cross-sectional study.
SETTING: This study is part of a larger national study on the perception of the Malaysian public healthcare professionals on FMSs.
PARTICIPANTS: PHCPs from three categories of health facilities, namely hospitals, health clinics and health offices.
MAIN OUTCOME MEASURES: Qualitative analysis of written comments of respondents' expectation of FMSs.
RESULTS: The participants' response rate was 58% (780/1345) with an almost equal proportion from each public healthcare facility. We identified 21 subthemes for the 623 expectation comments. The six emerging themes are (1) need for more FMSs, (2) clinical roles and functions of FMSs, (3) administrative roles of FMSs, (4) contribution to community and public health, (5) attributes improvement and (6) research and audits. FMSs were expected to give attention to clinical duty. Delivering this responsibility with competence included having the latest medical knowledge in their own and others' medical disciplines, practising evidence-based medicine in prehospital and posthospital care, better supervision of staff and doctors under their care, fostering effective teamwork, communicating more often with hospital specialists and making appropriate referral. Expectations ranged from definite and strong for more FMSs at the health clinics to low expectation for FMSs' involvement in research; to mal-expectation on FMSs' involvement in community and public health programmes.
CONCLUSIONS: There were some remarkable differences in expectations on FMSs from the three different PHCPs. These ranged from being clinically competent and administratively available for patients and staff at the health clinics, to mal-expectations on FMSs to engage in public health affairs. Relevant parties, including FMSs themselves, could take appropriate self-improvement initiatives to enhance public practice of family medicine and patient care.
TRIAL REGISTRATION NUMBER NMRR ID: 08-12-1167.
A Case Report of a Rare ER+, PR- Pure Metaplastic Breast Squamous Cell Carcinoma with HER2 Overexpression

Adam SA, Kamaruddin KN, Abd Shukor N, Abdullah Suhaimi SN, Ismail F, Md Yasin M

Am J Case Rep, 2023 Dec 04;24:e941448.
PMID: 38048289 DOI: 10.12659/AJCR.941448

BACKGROUND Breast squamous cell carcinoma (SCC) is a subtype of metaplastic breast carcinoma (MBC), which is a rare malignancy and accounts for 0.1% of all invasive breast carcinomas. Guidelines on definitive management and treatment of breast SCC are not well established, given its rarity and diverse immunohistochemistry (IHC) profile, and lack of clinical data. Most cases of breast SCC are triple-negative breast cancer - negative for estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). This case report outlines the clinicopathological profile of a pure breast SCC case with a rare IHC profile; HER2 and ER positive. CASE REPORT A 41-year-old woman presented with a right breast mass that had been growing for 2 months. Biopsy confirmed breast SCC, a rare malignancy with IHC profile as follows: HER2 overexpression, ER positive, and PR negative. She underwent neoadjuvant chemotherapy for 3 months followed by right mastectomy with axillary clearance, adjuvant radiotherapy, and oral tamoxifen therapy. Unfortunately, she did not receive anti-HER2 therapy. She developed early locoregional recurrence at 2 months postoperatively, which was treated with excision of the right chest wall and transverse rectus abdominis musculocutaneous (TRAM) flap. She developed liver and lung metastasis and succumbed to her disease at 15 months post-diagnosis. CONCLUSIONS Breast SCC is a rare and aggressive tumor with heterogeneous clinicopathological features. Available guidelines do not outline the definitive treatment for breast SCC, given its rarity and heterogenous IHC profile, leading to a general lack of clinical data. Hence, due to the challenges in managing this rare condition, treatment modalities need to be individualized.
Fulltext Novel methods to monitor the biodegradation of polylactic acid (PLA) by Amycolatopsis orientalis and Amycolatopsis thailandensis

Yasin NM, Pancho F, Yasin M, Van Impe JFM, Akkermans S

Front Bioeng Biotechnol, 2024;12:1355050.
PMID: 38655392 DOI: 10.3389/fbioe.2024.1355050

Plastics are essential in modern life, but their conventional production is problematic due to environmental pollution and waste management issues. Polylactic acid (PLA) is a widely used bioplastic that is bio-based and biodegradable, making it a key player in the bioeconomy. PLA has been proven to be degradable in various settings, including aqueous, soil, and compost environments. However, monitoring and optimizing PLA biodegradation remains challenging. This study proposes methods to improve the quantification of PLA biodegradation by Amycolatopsis spp. Ultrasound treatments (10 s) significantly improved the enumeration of viable Amycolatopsis cells by breaking the pellets into quantifiable individual cells. A separation technique combining ultrasound (120 s) and 40 μm cell strainers effectively isolated PLA particles from biomass to quantify PLA weight loss. This enabled the monitoring of PLA biofragmentation. Finally, CO2 production was measured according to ISO 14852 to quantify mineralization. Integrating these methods provides an improved quantification for PLA biodegradation along its different stages. In a case study, this led to the construction of a carbon balance where 85.1% of initial carbon content was successfully tracked. The developed techniques for monitoring of PLA biodegradation are essential to design future waste management strategies for biodegradable plastics.
Identification of Four Novel Candidate Genes for Non-syndromic Intellectual Disability in Pakistani Families

Ahmed I, Muzammal M, Khan MA, Ullah H, Farid A, Yasin M, et al.

Biochem Genet, 2024 Aug;62(4):2571-2586.
PMID: 37985543 DOI: 10.1007/s10528-023-10556-w

Intellectual disability, a genetically and clinically varied disorder and is a significant health problem, particularly in less developed countries due to larger family size and high ratio of consanguineous marriages. In the current genetic study, we investigate and find the novel disease causative factors in the four Pakistani families with severe type of non-syndromic intellectual disability. For genetic analysis whole-exome sequencing (WES) and Sanger sequencing was performed. I-TASSER and Cluspro tools were used for Protein modeling and Protein-protein docking. Sanger sequencing confirms the segregation of novel homozygous variants in all the families i.e., c.245 T > C; p.Leu82Pro in SLC50A1 gene in family 1, missense variant c.1037G > A; p.Arg346His in TARS2 gene in family 2, in family 3 and 4, nonsense mutation c.234G > A; p.Trp78Term and missense mutation c.2200G > A; p.Asp734Asn in TBC1D3 and ANAPC2 gene, respectively. In silico functional studies have found the drastic effect of these mutations on protein structure and its interaction properties. Substituted amino acids were highly conserved and present on highly conserved region throughout the species. The discovery of pathogenic variants in SLC50A1, TARS2, TBC1D1 and ANAPC2 shows that the specific pathways connected with these genes may be important in cognitive impairment. The decisive role of pathogenic variants in these genes cannot be determined with certainty due to lack of functional data. However, exome sequencing and segregation analysis of all filtered variants revealed that the currently reported variants were the only variations from the respective families that segregated with the phenotype in the family.

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