Browse publications by year: 2023

  1. Paul BT, Jesse FAA, Kamaludeen J, Chung ELT, Mat Isa K, Azhar NA, et al.
    Trop Biomed, 2023 Dec 01;40(4):444-452.
    PMID: 38308832 DOI: 10.47665/tb.40.4.010
    This paper describes the occurrence of multiple parasitic infection with special reference to emerging haemotropic Mycoplasma ovis. A cross-sectional survey of four selected goat flocks was conducted to collect samples and management information. Blood samples were processed using microhaematocrit centrifugation to determine the packed cell volume (PCV). Detection and morphological identification of blood protozoa and haemotropic Mycoplasma ovis from Giemsa-stained smears were done microscopically. M. ovis infection was classified mild (1-29% infected cells), moderate (30-59% infected cells), or severe (above 60% infected cells). Faecal floatation and McMaster faecal egg count were used to detect and classify strongyle infections as negative (no eggs/oocysts), light (< 500 epg), Moderate (500 - 1000 epg), or severe (>1000 epg) and coccidia infection as light (<1800 opg), moderate (1800 - 6000 opg), or severe (>6000 opg). There were 149 goats with blood protozoa (57.98%; 95% CI: 51.87 - 63.85) and 204 goats with GI parasites (79.38%; 95% CI: 74.02 - 83.87) involved in single (15.8%; 95% CI: 11.7 - 21.0) or multiple (84.2%; 95% CI: 79.0 - 88.3) infections. The risk of Strongyles increases by 2.49 (95% CI: 1.24 - 4.99) in females versus males and 6.79 (95% CI: 3.25 - 14.18, p =0.000) in adults versus young. The risk of Eimeria species increases by 7.32 (95% CI: 3.45 - 15.50, p =0.000) in adults versus young, while M. ovis coinfection risk increases by 4.51 (95% CI: 1.40 - 14.50, p =0.000) in female versus males. Thin animals had a significantly higher (p<0.05) mean burden of Strongyle (1370.37 ± 345.49) and Eimeria (1594.12 ± 695.26) than the moderate and fat goats. The PCV was negatively associated with mean faecal egg count (FEC) (p<0.05) such that a lower PCV was recorded in animals with a higher Strongyle epg output. A severe burden of M. ovis was accompanied by an increased nematode FEC and decreased haematocrit (p<0.05). Coinfections of Strongyles, or Eimeria species involving M. ovis were associated with a higher parasitaemia compared with single infections (p<0.05). This study highlights the importance of M. ovis and Strongyle or Eimeria species coinfections among goat flocks and provides valuable data for developing and implementing an integrated herd health management program for parasite control among low-input smallholder flocks.
    MeSH terms: Animals; Cross-Sectional Studies; Feces/parasitology; Female; Goats/parasitology; Malaysia/epidemiology; Male; Mycoplasma*; Parasite Egg Count/veterinary; Parasites*; Sheep
  2. Abdullah DA, Aishah EA
    Trop Biomed, 2023 Dec 01;40(4):453-461.
    PMID: 38308833 DOI: 10.47665/tb.40.4.011
    The present study was conducted to investigate the immunomodulatory and anti-inflammatory effects of Elettaria cardamomum essential oil (ECEO) for the control of acute Toxoplasma gondii infection. The effect of ECEO on T. gondii tachyzoites was measured by the tetrazolium bromide method. Mice received ECEO orally at doses of 1-4 mg/kg/day for 14 days. Once acute toxoplasmosis was induced in mice, their mortality rate and parasite load were recorded. The level of liver antioxidant/oxidant enzymes and the level of mRNA expression of interleukin-1 beta and interferongamma were also investigated. ECEO particularly at a concentration of 150 µg/ml has promising in vitro anti-Toxoplasma effects (p<0.001). After treatment with ECEO, the mortality rate (9th day) and parasite load decreased (p<0.001) in the infected mice. ECEO markedly (p < 0.05) restored hepatic oxidant and antioxidant enzyme levels, as well as increased cytokines. These results report a significant inhibitory effect of ECEO mainly at a dose of 4 mg/mL, against the T. gondii Rh strain through strengthening the immune system and reducing inflammation and oxidative stress; however, further research is needed to verify these results.
    MeSH terms: Animals; Anti-Inflammatory Agents/pharmacology; Antioxidants/pharmacology; Toxoplasmosis*; Oxidants/pharmacology; Oxidants/therapeutic use; Elettaria*; Mice
  3. Siew ZY, Lai ZJ, Ho QY, Ter HC, Ho SH, Wong ST, et al.
    Trop Biomed, 2023 Dec 01;40(4):462-470.
    PMID: 38308834 DOI: 10.47665/tb.40.4.012
    Bats are flying mammals with unique immune systems that allow them to hold many pathogens. Hence, they are recognised as the reservoir of many zoonotic pathogens. In this study, we performed molecular detection to detect coronaviruses, paramyxoviruses, pteropine orthoreoviruses and dengue viruses from samples collected from insectivorous bats in Krau Reserve Forest. One faecal sample from Rhinolophus spp. was detected positive for coronavirus. Based on BLASTN, phylogenetic analysis and pairwise alignment-based sequence identity calculation, the detected bat coronavirus is most likely to be a bat betacoronavirus lineage slightly different from coronavirus from China, Philippines, Thailand and Luxembourg. In summary, continuous surveillance of bat virome should be encouraged, as Krau Reserve Forest reported a wide spectrum of biodiversity of insectivorous and fruit bats. Moreover, the usage of primers for the broad detection of viruses should be reconsidered because geographical variations might possibly affect the sensitivity of primers in a molecular approach.
    MeSH terms: Animals; Animals, Wild; Chiroptera*; Phylogeny; Genome, Viral; Coronavirus Infections*
  4. Boonsuya A, Chitpitaklert P, Pechdee P, Srithongklang W, Thanchonnang C, La N, et al.
    Trop Biomed, 2023 Dec 01;40(4):471-477.
    PMID: 38308835 DOI: 10.47665/tb.40.4.013
    Entamoeba gingivalis is present in the oral cavity of humans and is associated with periodontal disease. Consequently, this study aimed to comprehensively investigate the E. gingivalis infection and the associated risk factors among individuals suffering from periodontal conditions. A cross-sectional descriptive study was carried out within a cohort of periodontal patients. Dental plaque specimens were meticulously collected and subsequently subjected to thorough examination using the polymerase chain reaction (PCR)-based technique targeting the small subunit ribosomal RNA (SrRNA) gene of the organism. The occurrence of risk factors for E. gingivalis infection was analyzed by the chi-square test and binary logistic regression. Out of the 230 participants, 60 were clinically diagnosed with periodontitis, while 170 were afflicted with gingivitis. Out of the 230 patients, 25 (10.9%) tested positive for E. gingivalis infections. An in-depth analysis unveiled that a significant majority of infections were recorded within subgroups characterized by a marital status (15.45%), manifestation of periodontitis (25.00%), and concomitant presence of underlying disease (20.83%). Furthermore, the high risk factor associated with E. gingivalis infection was the female (ORadj = 13.65, 95% CI = 1.08-173.21), followed by periodontitis (ORadj = 3.30, 95% CI = 1.21-9.00), respectively. The study employs a molecular diagnostic approach to screen for E. gingivalis enrichment within a subset of periodontal patients with advancing disease. The findings emphasize the necessity for further research to elucidate the pathogenesis of E. gingivalis and advocate for vigilant surveillance within a substantial population of periodontal patients.
    MeSH terms: Cross-Sectional Studies; Entamoeba*; Female; Humans; Thailand
  5. Baharin SNAN, Tan SL, Sam IC, Chan YF
    Trop Biomed, 2023 Dec 01;40(4):478-485.
    PMID: 38308836 DOI: 10.47665/tb.40.4.014
    Hand, foot, and mouth disease (HFMD) is a contagious childhood disease caused by enteroviruses including enterovirus A71 (EV-A71), coxsackievirus A6 (CV-A6) and CV-A16 transmitted via direct and indirect contact. Different types of toy surfaces can affect the stability of viruses. Understanding the stability of enteroviruses on toys provides insightful data for effective disinfection in kindergartens or homes. Porous (ethylene-vinyl acetate mat foam, paper, pinewood, polyester fabric, and squishy polyurethane foam) and non-porous (acrylonitrile butadiene styrene plastic and stainless-steel coin) surfaces were inoculated with EV-A71 at 4, 24, and 35°C, and coxsackieviruses at 24°C. Infectious enteroviruses were recovered and titred in median tissue culture infectious dose assay (TCID50). Atomic force microscopy (AFM) images were taken from surfaces to examine association of surface roughness with virus stability. Overall, infectious enteroviruses were persistent on all non-porous and porous surfaces. Virus persistence was longest at 4°C followed by 24°C and 35°C. EV-A71 half-lives ranged between 6.4-12.8 hours at 4°C, 2.4-6.7 hours at 24°C, and 0.13-2.7 hours at 35°C. At lower virus titres exposed to 24°C, half-lives of enteroviruses ranged from 0.1-1.4 hours. Surface roughness values from AFM suggested smooth surfaces of non-porous surfaces were associated with better virus stability. Temperature, enterovirus concentration, and type of surface affected persistence and stability of enteroviruses. Our findings suggest both porous and non-porous surfaces in kindergartens allow enterovirus persistence and should be frequently disinfected to curb HFMD outbreaks in kindergartens.
    MeSH terms: Child; China/epidemiology; Disease Outbreaks; Enterovirus*; Humans; Enterovirus A, Human*
  6. Al-Madhagi WM, Sharhan O, Jadan B, Hashim NM, Awadh N, Othman R
    Trop Biomed, 2023 Dec 01;40(4):486-496.
    PMID: 38308837 DOI: 10.47665/tb.40.4.015
    Much of the new research and investigation in pharmacy sciences are concerned with developing therapeutic agents, and identifying and finding new drugs with their chemical structure to treat different human diseases such as infectious diseases from natural products. Therefore, the present findings relate to isolating five new compounds the dichloromethane extract of Peperomia blanda (Jacq.) Kunth grown on Socotra Island, Yemen. two new secolignans; which have been proposed as peperomin I & J. These compounds were isolated together with the other two polyketides presented as surinone D and dindygulerione F. The chemical structures were elucidated and confirmed with nuclear magnetic resonance (NMR) and liquid chromatography-mass spectroscopy (LCMS) analysis. These compounds were first isolated and reported from this plant. These new compounds' antimicrobial activity has been evaluated, and minimum inhibitory concentration has been recorded in the range of 125-250 µg/mL. The pharmacotherapeutic spectrum of compounds was predicated using PASS software which showed potential activity.
    MeSH terms: Biological Products*; Humans; Methylene Chloride; Plant Extracts/pharmacology
  7. Alimin AWF, Yusoff NAH, Kadriah IAK, Anshary H, Abdullah F, Jabir N, et al.
    Parasitol Res, 2023 Dec 14;123(1):49.
    PMID: 38095702 DOI: 10.1007/s00436-023-08067-z
    Parasitic dinoflagellates of the genus Hematodinium are known to infect various marine crustaceans worldwide, especially crabs and several species of shrimp and lobster. Some of these species are new host species and components of commercial fishery products. These parasitic species are predominantly found in the hemolymph of the host and cause pathological changes and functional damage to organs and tissues, leading to death. In recent years, these parasites have infected important commercially valuable species, particularly in European waters, US waters, Australian waters, and recently in Shandong Peninsula in China. These Hematodinium pathogens were also reported to affect wild shrimp in Chinese waters and in the English North Sea. These rapid spreads affect crustacean aquaculture industries, where they are indeed a significant threat to the sustainability of the aquaculture of important crustaceans. The fishery products industries are also under pressure from the invasion of this pathogen, as the crab meat produced has a bitter taste, which may reduce its marketability. In response to these threats, this review was aimed at providing a broader understanding of the development of parasite distribution and ecological aspects of Hematodinium. In addition, the interaction of these pathogens with their hosts, the environmental drivers of Hematodinium disease, and future research perspectives were discussed.
    MeSH terms: Animals; Australia; Seafood; Aquaculture
  8. Pandarathodiyil AK, Sivapathasundharam B
    J Oral Maxillofac Pathol, 2023;27(4):616-621.
    PMID: 38304527 DOI: 10.4103/jomfp.jomfp_470_23
    A superficial mucocele is a unique variant of a mucocele of the oral cavity that was described by Eveson for the first time in 1988. It occurs due to subepithelial extravasation of sialomucin at the epithelial-connective tissue interface and is related to damage of the minor salivary gland ducts. Clinically, they appear as small, asymptomatic, clear, tense vesicles with a predilection for the soft palate, retromolar pads, and posterior buccal mucosa. They are reported to occur more frequently in women than in men. Before Eveson endeavoured to describe these rather peculiar lesions, they were often misdiagnosed as vesiculobullous lesions such as bullous lichen planus, mucous membrane pemphigoid, and the like. It is incumbent on the present-day pathologist to be cognizant of the presence of these entities as it could present a formidable diagnostic challenge otherwise. This review gives an updated account on the etiology, prevalence, clinical features, differential diagnosis, and management of superficial mucoceles.
  9. Mohd FN, Said AH, Ahmad MS, Ridzwan AN, Muhammad AI, Mat Naji AS
    J Int Soc Prev Community Dent, 2023;13(6):477-484.
    PMID: 38304533 DOI: 10.4103/jispcd.JISPCD_89_23
    BACKGROUNDS: People with intellectual disabilities (PWID) are often characterized by challenges in learning and difficulties in performing daily activities. These difficulties can have an impact not only on the individuals themselves but also on the people around them, especially their parents, caregivers, and healthcare workers. Therefore, establishing a positive relationship between parents or caregivers and individuals with disabilities is crucial as a key factor in promoting positive healthcare experiences and outcomes.

    AIM: This study aims to explore the barriers and perceptions toward healthcare services among parents or caretakers of people with intellectual disability, including the challenges and their expectations toward healthcare services.

    MATERIALS AND METHODS: This was a qualitative study using purposive sampling. Thirty participants were contacted at the initial stage and invited to participate in the study. Semi-structured in-depth interviews were done among parents and caretakers of PWID who attended Special Care Dentistry and Paediatric Dentistry clinics in Sultan Ahmad Shah Medical Centre, Kuantan, Pahang. Topic guides were generated from literature review and expert opinions, followed by pilot interviews to refine them. However, after the interviews were done for the first 13 participants, we have reached data saturation, and no new themes emerged. The interviews were recorded, verbatim transcribed, and analyzed using Braun and Clarke's guidelines for thematic analysis.

    RESULTS: The satisfaction of parents or caretakers toward healthcare services for PWID and positive experiences in receiving healthcare services were noted. However, the results revealed several barrier themes in seeking healthcare services: lack of availability of parking, longer waiting time, appointment time, crowded environment, limited information on the availability of the services, and longer travel duration. Furthermore, expectation themes emerged from this study: continuous follow-up, accessibility to healthcare services, and staff attitude.

  10. Ismail N, Isa KAM, Hamzah SH, Mokhtar IW
    J Int Soc Prev Community Dent, 2023;13(6):500-508.
    PMID: 38304538 DOI: 10.4103/jispcd.JISPCD_52_23
    AIM: To compare caregivers' acceptance, consent, and concern toward utilization of a combination of basic behavior guidance technique (CBBGT) and Papoose Board (PB) for their special needs children and to evaluate the impact of PB usage on the caregiver's attitude and the association between their education level, monthly household income, and previous dental experience.

    MATERIALS AND METHODS: This cross-over study incorporated 90 special needs children who were recruited to receive dental treatment with two ways of behavior guidance exposures consecutively in the order of A-B/B-A design. Exposure A is CBBGT (distraction, tell-show-do, and positive reinforcement), while Exposure B is PB. The dental procedures were either dental prophylaxis or restoration with a handpiece. Caregivers need to answer a paper-based questionnaire before and after exposure. The Wilcoxon sign rank test and logistic regression were utilized in order to establish the comparability, impacts, and association.

    RESULT: About 88 caregivers of special needs children aged between 2 and 15 years completed the sequence. Overall, 98.9% of the children presented with neurodevelopmental disorders. Twenty-seven caregivers were significantly concerned when the combination of basic BGT was applied to their children, and 14 caregivers felt the same for PB. However, the Wilcoxon sign rank test revealed insignificant caregiver scores on acceptance and consent for both methods but significantly improved attitudes towards the use of PB after observing the placement of their children.

    CONCLUSION: The studied caregiver demonstrated equivalent acceptance, consent, and concern toward the use of PB and a combination of basic BGT with improved attitudes after comprehensive explanation and real-time observation of PB usage during their children's dental treatment.

  11. Foo LS, Larkin JR, Sutherland BA, Ray KJ, Yap WS, Goh CH, et al.
    Quant Imaging Med Surg, 2023 Dec 01;13(12):7879-7892.
    PMID: 38106293 DOI: 10.21037/qims-23-510
    BACKGROUND: When an ischemic stroke happens, it triggers a complex signalling cascade that may eventually lead to neuronal cell death if no reperfusion. Recently, the relayed nuclear Overhauser enhancement effect at -1.6 ppm [NOE(-1.6 ppm)] has been postulated may allow for a more in-depth analysis of the ischemic injury. This study assessed the potential utility of NOE(-1.6 ppm) in an ischemic stroke model.

    METHODS: Diffusion-weighted imaging, perfusion-weighted imaging, and chemical exchange saturation transfer (CEST) magnetic resonance imaging (MRI) data were acquired from five rats that underwent scans at 9.4 T after middle cerebral artery occlusion.

    RESULTS: The apparent diffusion coefficient (ADC), cerebral blood flow (CBF), and apparent exchange-dependent relaxations (AREX) at 3.5 ppm and NOE(-1.6 ppm) were quantified. AREX(3.5 ppm) and NOE(-1.6 ppm) were found to be hypointense and exhibited different signal patterns within the ischemic tissue. The NOE(-1.6 ppm) deficit areas were equal to or larger than the ADC deficit areas, but smaller than the AREX(3.5 ppm) deficit areas. This suggested that NOE(-1.6 ppm) might further delineate the acidotic tissue estimated using AREX(3.5 ppm). Since NOE(-1.6 ppm) is closely related to membrane phospholipids, NOE(-1.6 ppm) potentially highlighted at-risk tissue affected by lipid peroxidation and membrane damage. Altogether, the ADC/NOE(-1.6 ppm)/AREX(3.5 ppm)/CBF mismatches revealed four zones of increasing sizes within the ischemic tissue, potentially reflecting different pathophysiological information.

    CONCLUSIONS: Using CEST coupled with ADC and CBF, the ischemic tissue may thus potentially be separated into four zones to better understand the pathophysiology after stroke and improve ischemic tissue fate definition. Further verification of the potential utility of NOE(-1.6 ppm) may therefore lead to a more precise diagnosis.

  12. Mofreh Altarawneh H, Nasser Alhajj M, Mohd Salleh N, Elkezza AHH, Adida Mahmood W
    Acta Stomatol Croat, 2023 Dec;57(4):329-338.
    PMID: 38283308 DOI: 10.15644/asc57/4/4
    OBJECTIVES: This study aimed to assess the color stability, surface roughness, and flexural properties of the injection-molded thermoplastic polyamide Vertex ThermoSens denture base resin following a 3-minute immersion in Polident 3-minute denture cleanser.

    METHODS: Sixty specimens (Vertex ThermoSens) were processed and divided into two main groups (n = 30) based on the type of test. Group 1 was further subdivided into two subgroups (n = 15): the control group immersed in distilled water (G1DW) and the test group immersed in Polident cleanser solution (G1PD). Group 2 was divided into three subgroups: a non-immersed group (G2None), a group immersed in distilled water (G2DW), and a group immersed in Polident cleanser solution (G2PD). Color change (∆E) and surface roughness measurements were conducted for group 1, and flexural modulus (E) test was performed for group 2. The CIE Lab* formula was utilized to calculate ∆E. An optical 3D surface analyzer and a three-point bending test were employed for surface roughness and E assessments, respectively. Data were subjected to statistical analysis using a paired-sample t-test for differences within each group before and after immersion. Furthermore, independent-sample t-tests and one-way ANOVA were conducted to analyze differences between groups. A significance level of P < 0.05 was considered.

    RESULTS: The results revealed a slight, statistically insignificant (P > 0.05) ∆E in all color components (L*, a*, b*) after immersion in distilled water. However, after immersion in the denture cleanser, only the L* component exhibited a statistically significant ∆E (P = 0.002), which was slight in magnitude. Additionally, a significant difference was found in the ∆E between G1DW and G1PD, with G1PD showing a higher change (P = 0.007). A significant increase in surface roughness after immersion was observed in G1PD (P = 0.017), with a notable difference between G1DW and G1PD. However, the E remained unaffected (P = 0.537).

    CONCLUSION: Denture cleansers have the potential to modify the properties of thermoplastic polyamide resin. Further research is needed to explore the clinical implications of these observed changes on denture performance.

  13. Luger T, Chu CY, Elgendy A, Ibrahim SBBK, Murashkin N, Ranjan S, et al.
    Eur J Dermatol, 2023 Oct 01;33(5):474-486.
    PMID: 38297923 DOI: 10.1684/ejd.2023.4556
    This systematic literature review (SLR) and meta-analysis assessed the efficacy and safety of pimecrolimus vs other topical treatments in patients with mild-to-moderate atopic dermatitis (AD), focusing on children and sensitive skin areas. An SLR was conducted in MEDLINE, Embase and Cochrane Library databases on January 15th, 2020, to identify randomized controlled trials (RCTs) with pimecrolimus as a study arm. Another SLR performed on October 5th, 2020 identified RCTs with a crisaborole study arm. Direct pair-wise meta-analysis was used to compare pimecrolimus with vehicle, tacrolimus or topical corticosteroids (TCS; n = 27 studies). Outcomes included Investigator's Global Assessment (IGA) score 0/1 up to week 6 and adverse events. Pimecrolimus was more efficacious than vehicle in achieving IGA 0/1 up to week 6 in children, and similar safety profiles were observed with pimecrolimus and vehicle in children and the mixed population, including on sensitive skin. No significant differences in efficacy and safety were observed between pimecrolimus and tacrolimus 0.03%. Efficacy and safety were similar for pimecrolimus and mild medium potency TCS; mildly potent steroids caused transient epidermal thinning in sensitive skin areas (not seen with pimecrolimus). Pimecrolimus can be considered as a first-line option for mild-to-moderate AD, particularly in children and sensitive skin areas.
    MeSH terms: Child; Humans; Immunoglobulin A; Randomized Controlled Trials as Topic; Tacrolimus/adverse effects; Treatment Outcome
  14. Roy B, Murugesan K, Mathanmohun M, Sathian B
    Nepal J Epidemiol, 2023 Dec;13(4):1294-1297.
    PMID: 38299042 DOI: 10.3126/nje.v13i4.61245
    Nanoparticles (NPs) are small particles with a surface area ranging from 1 to 100 nm in diameter that are rampantly used in different fields, e.g., medicine, engineering, and others. Because of their unique properties, such as their tiny size, magnetic properties, quantum size effects, and macroscopic quantum tunnelling effects, they are crucial for a wide range of potential applications. NPs play a significant role in the treatment of vascular disorders, the production of vaccines, and the development of drug carriers for diverse therapies due to their bioavailability, targeting ability, and efficacy. However, significant risks to the environment and health are also associated with it. NPs cause necrotic plasma membrane rupture or apoptosis, which leads to cell death. NPs interfere with cell signalling, endosomal membranes, and organelles like the nucleus or mitochondria, affecting their function. NPs cause autophagic cell death, which causes a stress response and sterile inflammation. The primary routes for the entry of NPs into the human body are inhalation, ingestion, and skin contact. NPs accumulate in the respiratory system based on their size, shape, and surface properties. NPs can cause lung inflammation and fibrosis, disrupt the endocrine system by attaching to hormone receptors, and produce reactive oxygen species (ROS) associated with DNA damage, oligospermia, and male infertility. Carcinogenic properties of NPs cause mutations, apoptosis, and inflammatory responses. Collaborative research between ecologists and epidemiologists may enlighten ways to reduce the harmful effects of NPs.
  15. Sathian B, van Teijlingen E, Roy B, Kabir R, Banerjee I, Simkhada P, et al.
    Nepal J Epidemiol, 2023 Dec;13(4):1292-1293.
    PMID: 38299043 DOI: 10.3126/nje.v13i4.61271
  16. Kong D, Abdul Halim S
    Cureus, 2023 Dec;15(12):e51420.
    PMID: 38299130 DOI: 10.7759/cureus.51420
    A 29-year-old female, with giant congenital melanocytic naevi (GCMN) presented with a-year history of symptoms and signs of intracranial hypertension. Investigations revealed raised cerebrospinal fluid (CSF) pressure and severe hypoglycorrhachia (low CSF glucose) without pleocytosis. Initial contrast-enhanced brain MRI was normal, but a repeat MRI after a year showed meningeal enhancement with mild communicating hydrocephalus. The raised intracranial pressure was treated with a lumbar-peritoneal shunt. Intraoperative CSF cytology revealed an abundance of squamous epithelia and degenerative cells, but no malignant cells. Her symptoms recovered with CSF diversion via shunt placement, but the hypoglycorrhachia remained. This case highlights the rare occurrence of a non-inflammatory cause of both intracranial hypertension and severe hypoglycorrhachia in a GCMN adult patient, with progressive radiological changes over time, consistent with a diagnosis of neurocutaneous melanosis.
  17. Ahmad Azahari AHS, Hakim Zada F, Ismail IH, Abd Hamid IJ, Lim BWD, Ismail NAS, et al.
    Front Immunol, 2023;14:1308305.
    PMID: 38283358 DOI: 10.3389/fimmu.2023.1308305
    BACKGROUND: Primary Immunodeficiency Disease (PID), also known as Inborn Errors of Immunity (IEI), comprises a group of rare genetic disorders that impair the body's immune responses. These conditions result from monogenic germline mutations that affect the function of genes governing the innate and adaptive immune system. Therefore, individuals with PID are more susceptible to infectious diseases, allergies, and autoimmune and autoinflammatory conditions. The prevalence of PID has been on the rise, with the number of classified diseases reaching 404, and 430 genetic defects reported to cause these conditions. However, in Malaysia, genetic testing for PID is currently limited and needs to be outsourced to overseas laboratories, posing financial challenges for families. Moreover, limited research has focused on the knowledge and awareness of genetic testing among parents of children with PID in Malaysia. This study aims to address this gap and provide valuable insights into the knowledge, awareness, and perception of genetic testing among this specific population.

    METHOD: This qualitative cross-sectional study utilised online open-ended, semi-structured focus group interviews to explore the perceptions and experiences of parents of children with Primary Immunodeficiency (PID). Participants were recruited through convenience sampling from the Malaysian Patient Organisation for Primary Immunodeficiencies (MyPOPI), a non-governmental organisation dedicated to providing support and raising awareness about PID. The study spanned from May 2023 to July 2023 and included participants from diverse regions of Malaysia who had undergone different diagnostic journeys in various hospitals.

    RESULT: The focus group discussions yielded 11 sub-themes that highlighted the experiences, understanding and challenges of the participants regarding genetic testing based on the semi-structured questions. These sub-themes were then grouped into four main themes that are awareness and understanding of genetic testing, the journey towards diagnosis and treatment, emotional impact and psychological factors, and the importance of medical experts in diagnosing and managing PID, as well as public perception and awareness.

    CONCLUSION: In conclusion, this study highlights the diverse knowledge, awareness, and perception surrounding genetic testing for PID. Factors such as access to services, family history, and personal circumstances shape individuals' understanding of genetic testing. The importance of healthcare professionals, along with the need for improved accessibility and targeted communication strategies, is underscored to enhance understanding and reduce stigma surrounding genetic testing for rare diseases like PID.

    MeSH terms: Child; Cross-Sectional Studies; Genetic Testing; Humans; Malaysia/epidemiology; Parents; Perception; Rare Diseases/genetics
  18. Teh HE, Pung CK, Arasoo VJT, Yap PSX
    Br J Biomed Sci, 2023;80:12098.
    PMID: 38283642 DOI: 10.3389/bjbs.2023.12098
    Disruption of the female genital microbiome is associated with several pregnancy complications, including miscarriage, preterm onset of labour, and tubal pregnancy. Ectopic pregnancy is a known cause of maternal morbidity and mortality, but early diagnosis and treatment of ectopic pregnancy remain a challenge. Despite growing established associations between genital microbiome and female reproductive health, few studies have specifically focused on its link with ectopic pregnancy. Therefore, the current review aims to provide a comprehensive account of the female genital microbiome in healthy and fertile women compared to those in ectopic pregnancy and its associated risk factors. The microbial diversity from various sites of the female genital tract was explored for a reliable proxy of female reproductive health in sequencing-based ectopic pregnancy research. Our report confirmed the predominance of Lactobacillus in the vagina and the cervix among healthy women. The relative abundance decreased in the vaginal and cervical microbiome in the disease state. In contrast, there were inconsistent findings on the uterine microbiome across studies. Additionally, we explore a spectrum of opportunities to enhance our understanding of the female genital tract microbiome and reproductive conditions. In conclusion, this study identifies gaps within the field and emphasises the need for visionary solutions in metagenomic tools for the early detection of ectopic pregnancy and other gynaecological diseases.
    MeSH terms: Female; Humans; Infant, Newborn; Lactobacillus/genetics; Pregnancy; Pregnancy, Ectopic*; RNA, Ribosomal, 16S; Vagina; Reproductive Health
  19. Tae SK, Ra M, Thong MK
    Front Genet, 2023;14:1286489.
    PMID: 38288163 DOI: 10.3389/fgene.2023.1286489
    ESCO2 spectrum disorder is an autosomal recessive developmental disorder characterized by growth retardation, symmetrical mesomelic limb malformation, and distinctive facies with microcephaly, with a wide phenotypic continuum that ranges from Roberts syndrome (MIM #268300) at the severe end to SC phocomelia (MIM #269000) at the milder end. ESCO2 encodes a 601-amino acid protein belonging to the Eco1/Ctf7 family of acetyltransferases that is involved in the establishment of sister chromatid cohesion, which is essential for accurate chromosome segregation and genomic stability and thus belongs to a group of disorders called "cohesinopathies". We describe a 15-year-old Malaysian female who presented with the characteristic triad of ESCO2 spectrum disorder, with an equivocal chromosomal breakage study and normal karyotyping findings. She was initially suspected to have mosaic Fanconi anemia but whole exome sequencing (WES) showed a likely pathogenic homozygous splice variant c.955 + 2_955+5del in the ESCO2 gene. During the 15-year diagnostic odyssey, she developed type 2 diabetes mellitus, primary ovarian insufficiency, increased optic cup-to-disc ratio with tortuous vessels bilaterally, and an evolving but distinct facial and skin hypopigmentation phenotype. Of note, there was an absence of learning disabilities. Our findings provide further evidence for ESCO2 spectrum disorder in an Asian child and contribute to defining the clinical and radiographic spectrum.
  20. Annam R, Padyala P, Annam P, Nandennagari S, Bethala K
    Cureus, 2023 Dec;15(12):e51325.
    PMID: 38288177 DOI: 10.7759/cureus.51325
    Central serous chorioretinopathy (CSC) is the buildup of fluid in the posterior pole distorting the vision resulting from either neurosensory or retinal pigment epithelial detachment. This is a case report of a 33-year-old female complaining of cloudiness in the left eye who was subsequently diagnosed with CSC using optical coherence tomography (OCT). Remission was observed in four months, possibly from ocular drop treatment or spontaneous. Our case report is unique as the incidence of CSC is more common in males, almost six times higher than in females. Also, the etiology of CSC in this case report is questionable because all the risks are excluded from our patient history.
External Links