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Background: Nursing care of premature babies in the Neonatal Intensive Care Unit (NICU) setting can inhibit the maternal-infant attachment. One of the evidence-based interventions for premature babies is Kangaroo Mother Care (KMC). KMC needs to be further studied and researched through a review of previous articles to ensure the effectiveness of that implementation. However, there is a very limited review that specifies the effect of KMC on the formation of maternal-infant attachment. Objective: This study was conducted to assess the effect of KMC on maternal-infant attachment between mothers and premature babies. Design: The design of this study uses a literature review. Data Sources: Initial searches of journal articles were performed on the Pubmed, ScienceDirect, and CINAHL search databases. The study found 676 articles but only 7 journal articles that met the search inclusion criteria. Review Methods: A literature review procedures were used to collect library data, reading and taking notes, as well as critical assessment of managing research materials. Results: The results of this review showed that KMC has been shown to have a positive impact on improving attachment status and resulting in a lower risk of bonding failure between mothers and premature babies. Conclusion: It is recommended that health workers can provide treatment using KMC as an intervention to improve the formation of maternal-infant attachment between mothers and premature babies. The policies related to the implementation of KMC as standard operating procedures are also important.

The main problem is experienced by institutionalized youth is a low level of adversity quotient (AQ). The impact is that it is difficult to develop the life skills needed in this century. One treatment that can be given to increase teenagers' adversity quotient is Biblio counseling. This research aims to test the effectiveness of Biblio Counseling in increasing teenagers' Adversity Quotient. This research uses a quantitative approach, specifically Quasi Experimental. The data analysis used was a pretest-posttest control group design. The research population was 100 teenagers at the Harapan Youth Development Social Institution in Padang Panjang. The research sample was 30 people taken randomly. The research instrument uses an adversity response scale with a validity of 0.857 and a reliability of 0.903. Data analysis using independent T-test. The research results show: (1) Biblio counseling is an interesting technique for orphaned teenagers to find solutions to the life problems they are experiencing, and (2) Biblio counseling is effective in increasing the AQ of institutionalized teenagers. It is recommended that social services utilize Biblio Counseling services as treatment in increasing the AQ of orphaned teenagers.

Substantial rise in internet access and e-Commerce is a tendency for people to purchase online. Malaysia has become one of the fastest growing in emerging e- commerce markets in Southeast Asia. With the emergence of big e-commerce firms, this somehow reflects that Malaysian women consumers are quite inclined to buy fashions and beauty products through the e-commerce. According to Internet User Survey Report 2017 by Malaysian Communication and Multimedia Commission (MCMC), purchasing online has become an important activity for internet user in Malaysia. Realizing this, the e-commerce organization need to identify what are the women preference towards purchasing fashion and beauty products through e-commerce in Selangor. This study is conducted to determine the factors that influence the preference of woman to purchase fashion and beauty products through e-commerce in Selangor. The factors that influence the preference of woman to purchase fashion and beauty products in Malaysia through e-commerce were studied. The findings of this paper will benefit the online retailer, e- commerce organization and also to the e-commerce user in in Selangor.

Abstract Background The 18q- deletion syndrome is a rare congenital chromosomal disorder caused by a partial deletion of the long arm of chromosome 18. The diagnosis of a patient with this syndrome relies on the family medical history, physical examination, developmental assessment, and cytogenetic findings. However, the phenotype of patients with 18q- deletion syndrome can be highly variable, ranging from almost normal to severe malformations and intellectual disability, and normal cytogenetic findings are common, thus complicating the diagnosis. Interestingly, only few characteristic features of typical 18q- deletion syndrome were found in the patient, despite sharing the same critical region. To our knowledge, this is the first report of a Malaysian individual with 18q- terminal microdeletion diagnosed with microarray-based technology. Case presentation Here we report a 16-year-old Malaysian Chinese boy, a product of a non-consanguineous marriage, who presented with intellectual disability, facial dysmorphism, high arched palate, congenital talipes equinovarus (clubfoot), congenital scoliosis, congenital heart defect, and behavioral problems. A routine chromosome analysis on 20 metaphase cells showed a normal 46, XY G-banded karyotype. Array-based comparative genomic hybridization was performed using a commercially available 244 K 60-mer oligonucleotide microarray slide according to the manufacturer’s protocol. This platform allows genome-wide survey and molecular profiling of genomic aberrations with an average resolution of about 10 kB. In addition, multiplex ligation-dependent probe amplification analysis was carried out using SALSA MLPA kit P320 Telomere-13 to confirm the array-based comparative genomic hybridization finding. Array-based comparative genomic hybridization analysis revealed a 7.3 MB terminal deletion involving chromosome band 18q22.3-qter. This finding was confirmed by multiplex ligation-dependent probe amplification, where a deletion of ten probes mapping to the 18q22.3-q23 region was detected, and further multiplex ligation-dependent probe amplification analysis on his parents showed the deletion to be de novo. Conclusion The findings from this study expand the phenotypic spectrum of the 18q- deletion syndrome by presenting a variation of typical 18q- deletion syndrome features to the literature. In addition, this case report demonstrated the ability of the molecular karyotyping method, such as array-based comparative genomic hybridization, to assist in the diagnosis of cases with a highly variable phenotype and variable aberrations, such as 18q- deletion syndrome.

Textbooks are written with a focus on various aspects in order to keep up with developments and times and can implement the curriculum. HOTS is a high-level thinking skill teachers and students must possess in the 21st century. HOTS is an essential part of a textbook because textbooks are a learning medium. This study aims to determine the implementation of HOTS in textbooks and describe the instructions in the eleventh-grade Arabic textbook by Dariyadi and Feriandika. Various levels of instruction in a textbook are needed to determine student abilities, strengthen understanding, and evaluate and measure the goals achieved from a lesson. This research is literature research with a content analysis technique. The type of research data is primary data in the form of textbooks, data collection through documentation, verification, selection, focus, data, and then conclusion. The results showed that the Arabic textbook for class XI SMA had reflected HOTS with as much as 75% of HOTS-based exercises. The instructional level is at levels C4-C6 in analyzing, discovering, and creating.

Background The study’s objective is to assess the adherence of C. albicans in different types of denture polymers and the effectiveness of eugenol and commercialized denture cleansers in the removal of C. albicans. Three types of denture base polymers (Lucitone® 199 (High-Impact PMMA), Impact® (conventional PMMA) and Eclipse® (UDMA)) and two hard denture reline materials (Kooliner® and Tokuyama® Rebase II Fast) were used in this study. Methods Three hundred samples were prepared (6 × 2 mm disc shape) and divided into five groups of denture polymers (n = 60) and further subjected into five treatment groups (Polident®, Steradent, distilled water, eugenol 5-minutes, and eugenol 10-min). Three samples were extracted from each treatment group for baseline data (n = 12). Baseline data were used to calculate the initial number of C. albicans adherence. A 0.5 ml immersion solution from each specimen was cultured on YPD agar and incubated for 48 h at 37 °C. Visible colonies were counted using a colony counter machine (ROCKER Galaxy 230). Results The result showed that the denture base polymer significantly affected the initial adherence (p = 0.007). The removal of C. albicans was also considerably affected by the denture base polymers and denture cleansers (p

Background: Very low birth weight is a condition of babies with a birth weight of less than 1500 grams. Premature or preterm babies are prone to nutrition deficiencies due to inadequate suction reflexes and inability of the digestive tract to absorb nutrients. Preterm Infant Oral Motor Intervention as known as PIOMI is an intervention used to stimulate the sucking reflex. The PIOMI intervention was carried out by massaging and stimulating the oral cavity, cheeks, and tongue before feeding once a day. Objectives: This study aims to analyze the effect of administration of the PIOMI intervention on weight gain, increased intake and increasing LATCH on, Audible of swallowing, Type of nipple, Comfort level, Hold positioning as known as LATCH score. Methods: This case study type experimental research design with nursing care approach. The population of this study consisted of very low birth preterm (

One of the problems experienced by ex-prostitutes was the low awareness of religion. This impacted their daily behavior in which they could be easily influenced to return to their old profession as prostitutes. A treatment that was considered appropriate to increase the religious awareness of ex-prostitutes is Islamic counseling as a da'wah approach. This study aimed to examine the effectiveness of Islamic counseling as a da'wah approach to improve the religious awareness of ex-prostitutes. This study used an experimental approach with a single-subject multiple baseline design. The respondents were three ex-prostitutes who stayed in a social rehabilitation institution. The research instrument used was a religious awareness scale. Data were analyzed using trend analysis. The study found that Islamic counseling as a da'wah approach effectively increased the religious awareness of ex-prostitutes so that ex-prostitutes can return to the community properly.

Background: Cervical cancer is the second most common cancer and the third leading cause of death in Indonesia. Purpose: This study aims to identify the 3-year survival rate of cervical cancer patients and its prognostic factors in a referral hospital in Southern Sumatra, Indonesia. Methods: Cohort retrospective study using secondary data from medical records of cervical cancer patients from January 2014 until December 2016. Data of each patient was evaluated for 36 months since the patients were firstly diagnosed with cervical cancer. Kaplan Meier curve was used to determine the survival rate and identify the proportional hazard assumption. The Cox regression model was utilized to determine the survival rate and Hazard Ratio (HR). Results: There were 274 of 799 cervical cancer patients who met the inclusion criteria. The 3-year survival rate for cervical cancer patients at survival rate was around 65%, and prognostic factors related to the survival of cervical cancer patients with p-value

The dominant problem experienced by the elderly is the high level of anxiety which has an impact on the physical and psychological. This study aims to examine the effectiveness of positive mental time travel counseling techniques to reduce the level of anxiety in the elderly. The approach used is experiments, especially pretest & posttest control group design. The research subjects were the elderly at the Sabai Nan Aluih Nursing Home, which amounted to 20 people indicated experiencing anxiety in the high category. Subjects were divided into two groups, namely the experimental group and the control group. The experimental group received a positive mental time travel technique counseling intervention and the control group received a lecture intervention in the group. Data were collected using the Elderly Anxiety Scale, and analyzed using a different test independent samples t test through the SPSS computer program Release 20. The results showed that; (1) there is a difference in the level of anxiety of the elderly who are given positive mental time travel techniques with the elderly who are not given positive mental time travel technique counseling, and (2) the counseling of positive mental time travel techniques is effective in reducing the level of anxiety of the elderly. It is recommended for practitioners to use positive mental time travel counseling techniques to reduce the level of anxiety in the elderly in order to realize the mental health of the elderly.

One of the services that should be provided by early childhood education (henceforth PAUD) teachers in the holistic integrative program is group guidance and counseling. Therefore, a manual which can assist them in providing these services is needed. This research aims to develop manual for implementing group guidance and counseling through holistic integrative program. The design of the study was research and development by following the CID development model which consists of 4 stages, namely 1) Define, 2) Design, 3) Develop, and 4) Disseminate. The design was validated by two experts, each of whom was with a professional background in guidance and counseling, and early childhood education respectively. The validation results showed that each aspect of the material, presentation, language and graphics are very valid (82%), valid (76.25), valid (70%) and very valid (85%) respectively. The dissemination stage was conducted through trying out the manual for the implementation of guidance and counseling in PAUD-to-PAUD teachers throughout to get an idea of whether there are still improvements so that the use of this manual can achieve the expected goals

Abstract Background Relapsed acute myeloid leukemia (AML) is associated with the acquisition of additional somatic mutations which are thought to drive phenotypic adaptability, clonal selection and evolution of leukemic clones during treatment. We performed high throughput exome sequencing of matched presentation and relapsed samples from 6 cytogenetically normal AML (CN-AML) patients treated with standard remission induction chemotherapy in order to contribute with the investigation of the mutational landscape of CN-AML and clonal evolution during AML treatment. Result A total of 24 and 32 somatic variants were identified in presentation and relapse samples respectively with an average of 4.0 variants per patient at presentation and 5.3 variants per patient at relapse, with SNVs being more frequent than indels at both disease stages. All patients have somatic variants in at least one gene that is frequently mutated in AML at both disease presentation and relapse, with most of these variants are classic AML and recurrent hotspot mutations including NPM1 p.W288fs, FLT3-ITD, NRAS p.G12D and IDH2 p.R140Q. In addition, we found two distinct clonal evolution patterns of relapse: (1) a leukemic clone at disease presentation acquires additional mutations and evolves into the relapse clone after the chemotherapy; (2) a leukemic clone at disease presentation persists at relapse without the addition of novel somatic mutations. Conclusions The findings of this study suggest that the relapse-initiating clones may pre-exist prior to therapy, which harbor or acquire mutations that confer selective advantage during chemotherapy, resulting in clonal expansion and eventually leading to relapse.

Penelitian ini bertujuan untuk mengetahui tingkat kebugaran jasmani pada atlet pencak silat binaan Bank Sumsel Babel Palembang. Jenis Penelitian ini adalah deskriptif kuantitatif. Metode yang digunakan dengan teknik pengumpulan data menggunakan observasi dan tes. Objek penelitian adalah atlet pencak silat binaan Bank Sumsel Babel Palembang yang berjumlah 7 atlet. instrumen yang digunakan untuk mengukur kebugaran jasmani menggunakan 5 etem tes yaitu tes kecepatan 20 meter, tes shuttle run, tes tiga kali lompat, tes sit up, dan tes bleep tes. Teknik analisis deskriptif dalam bentuk persentase.berdasarkan hasil penelitian yang telah dilakukan dapat diketahui bahwa kebugaran jasmani atlet pencak silat binaan Bank Sumsel Babel Palembang ada 3 orang (42,8% ) kecepatan lari 20 meter berada dalam katagori Baik , ada 7 orang (100% ) kelincahannya berada dalam katagori Sangat Baik , ada 6 orang ( 85,7% ) power otot tungkainya berada dalam katagori Baik, ada 7 orang ( 100%) kekuatan otot perutnya berada dalam katagori, ada 3 orang ( 42% ) daya tahannya berada dalam katagori Baik.

Youth life is closely related to spiritual activity. The phenomenon that is still encountered is Hubbu Ilahi, or the love attitude of Allah SWT. This phenomenon is presumed that adolescents only state and do not know the consequences of their attitudes. So, this study aims to determine the perceptions of today's adolescents on the phenomenon of Hubbu Ilahi. This research is descriptive qualitative research with a survey research method. This study used a purposive random sampling technique to 39 adolescents. Data collection used a questionnaire with the google form platform. Then, the data were analyzed using: data presentation, data reduction, and concluding. The results showed that adolescent respondents stated the consistency of love of the Quran, love of Rasulullah (SAW), love of the Prophet's Sunnah, and love of the Akhirat life. However, the busyness of the world blocks the proven proof of love. The analysis concluded that only 7.7% of adolescents fit Hubbu Ilahi's criteria.

This research aimed to know the effectiveness of the division learning classes based on students’ educational background in Arabic at IAIN Bukittinggi. This research was a quantitative research. The population of this research was the Arabic Students of 2019/2020 who have undergone grouping system based on the school background in Arabic classes. The data was collected by online questionnaire on 75 students and 7 lecturers and was analyzed with Likert scale. The results showed that majority of students agreed with the grouping system because it helped them to improve their Arabic, to be more confident during the lesson, and to understand the given materials according to their learning outcomes. The data analysis also showed that the grouping system could measure students' abilities and increase students’ competitiveness in the process. Meanwhile, a small number of students expressed their disapproval of the grouping system because it limited their Arabic ability in order to have the proper chance to discuss the given materials with those who have previously learned Arabic.

Introduction: The purpose of this study was to learn about the relationship between parent style and sexual behavior before marriage among the teenagers in SMKN 3 Banjarbaru. Methods: The design of this study was analytical with a cross-sectional approach. The population consisted of 810 teen classes X, XI, XII with the sample totaling as many as 226 teen classes X and XII in SMKN 3 Banjarbaru. The sample was determined using a stratified random sampling technique. The independent variable was parenting style and the dependent variable was sexual behavior before marriage. The data was collected using a questionnaire. The analysis was done using Spearman Rho. Results: Sex before marriage is a bad behavior. Conclusion: There is a significant relationship between the parenting style used and sex before marriage in terms of the behavior of teenagers in SMKN 3 Banjarbaru

This research aims to build spiritual awareness through surau-based counseling. Spiritual awareness is a supporting factor for tourism in the Minang realm, because the community adheres to the customary philosophy of sarak jointed, sarak jointed Kitabullah. The target of service is the young generation and mothers in Nagari Pariangan, Tanah Datar District, West Sumatra. The dedication method uses the Parcipatory Action Reserach technique. The results of the dedication found that surau-based counseling was able to foster spiritual awareness of the younger generation and mothers, the birth of a commitment to make spiritual values as a force in developing tourism, increasing the enthusiasm of young people and mothers to develop tourism based on spiritual values, and the desire to restore the function of the surau as central in building spiritual values.

Pain is a subjective feeling and an unpleasant experience. In neonates, pain that is not handled properly can cause short-term and long-term effects. Repeated pain can affect the development of the baby later on. The purpose of this study was to identify the relationship between knowledge, attitudes of nurses and the practice of pain management in neonates. Method: The design of this study was descriptive associative with a cross sectional approach. The sample in this study involved 119 nurses who work in the Neonatal Intensive Care Unit (NICU). Data analysis using the Pearson correlation statistic test by identifying the relationship between respondent characteristics, knowledge, nurse attitudes and the practice of pain management in neonates. Results: Knowledge of nurses about pain management in neonates in the adequate category was 37%, nurses had negative attitudes towards pain management as much as 52.1%, and nurses who performed pain management well as much as 51.3%. There is a significant relationship between knowledge, attitudes of nurses and the practice of pain management in neonates (r = 0.715; p value = 0,000) and (r = 0.659; p value = 0,000). There is a need for a neonatal pain management training for nurses worked in high-risk neonatal ward to improve nurses' knowledge and attitudes.

Abstract This study was aimed to determine the retention of dry matter, nitrogen and crude fiber of Azolla Meal (Azollamicrophilla) fermented with Pleurotus ostreatus mushroom as a mixture of kampung chicken rations. The experimental design used was Completely Randomized Design which consisted of 4 treatments and 5 replicates; P0 (Ration 0% Azolla Meal Fermentation (AF), P1 (Ration containing 5% AF), P2 (Ration containing 10% AF ) and P3 (Ration containing 15% AF). The observed variables were dry matter retention (DM), nitrogen retention (N) and crude fiber digestibility (CF). The data found were analyzed using variance analysis. The evident effect of the treatment on the observed variables then tested by Duncan's multiple range test. The results of the research presented that the use of fermented Azolla starch up to 15% in kampung chicken ration had no significant effect (P> 0,05) on the retention of dry matter, nitrogen and crude fiber. The fermentation of Azolla Meal with Pleurotus ostreatus (AF) mushroom improved the quality of Azolla as feed ingredients up to 15%. This research concluded that the use of fermented Azolla Meal with Pleurotus ostreatus (AF) mushroom in kampung chicken ration up to 15% can be used without affecting the retention of dry matter (DM), nitrogen (N) and crude fiber digestibility (CF). Keywords : Nutrient retention, Azolla Meal Fermentation (AF), and kampung chicken

MicroRNAs (miRNAs) are mostly located at cancer-associated genomic regions or in fragile sites, suggesting their important role in the pathogenesis of human cancers. Multiple myeloma (MM) is a cancer of plasma cells, the third most common cancer of the blood after lymphoma and leukaemia. There are several published reports on miRNAs in MM, however most used bone marrow rather than peripheral blood samples. The aim of this study is to characterise miRNA expression in normal and MM patients using peripheral blood samples as it is less invasive and is readily available from patients. Blood samples from 35 MM patients were analysed using the microarray method. We identified up-regulation of 36 miRNAs (57%) and down-regulation of 27 miRNAs (43%). We also identified the CCND2, HMGA2 and IGF1R genes were among the highly predictive target genes (PCT> 0.80) for most of the deregulated miRNAs. These genes are known to play important roles in MM as well as other cancers. Five miRNAs (let-7c, miR-16, miR- 449, miR-181a and miR-181b) were found to exhibit similar expression patterns (p < 0.05) in peripheral blood when compared to data obtained by using bone marrow aspirates from MM patients in other studies. In conclusion, our study has demonstrated that miRNAs are also present and differentially expressed in the peripheral blood of MM patients compared to controls and may potentially serve as candidate tumour biomarkers in MM. In particular, let-7c and miR-16 have been shown to be significantl expressed in the bone marrow. [ABSTRACT FROM AUTHOR]

Abstract Background Mesenchymal stromal cells (MSCs) from various tissues have shown moderate therapeutic efficacy in reversing liver fibrosis in preclinical models. Here, we compared the relative therapeutic potential of pooled, adult human bone marrow (BM)- and neonatal Wharton’s jelly (WJ)-derived MSCs to treat CCl4-induced liver fibrosis in rats. Methods Sprague-Dawley rats were injected with CCl4 for 8 weeks to induce irreversible liver fibrosis. Ex-vivo expanded, pooled human MSCs obtained from BM and WJ were intravenously administered into rats with liver fibrosis at a dose of 10 × 106 cells/animal. Sham control and vehicle-treated animals served as negative and disease controls, respectively. The animals were sacrificed at 30 and 70 days after cell transplantation and hepatic-hydroxyproline content, histopathological, and immunohistochemical analyses were performed. Results BM-MSCs treatment showed a marked reduction in liver fibrosis as determined by Masson’s trichrome and Sirius red staining as compared to those treated with the vehicle. Furthermore, hepatic-hydroxyproline content and percentage collagen proportionate area were found to be significantly lower in the BM-MSCs-treated group. In contrast, WJ-MSCs treatment showed less reduction of fibrosis at both time points. Immunohistochemical analysis of BM-MSCs-treated liver samples showed a reduction in α-SMA+ myofibroblasts and increased number of EpCAM+ hepatic progenitor cells, along with Ki-67+ and human matrix metalloprotease-1+ (MMP-1+) cells as compared to WJ-MSCs-treated rat livers. Conclusions Our findings suggest that BM-MSCs are more effective than WJ-MSCs in treating liver fibrosis in a CCl4-induced model in rats. The superior therapeutic activity of BM-MSCs may be attributed to their expression of certain MMPs and angiogenic factors.

Introduction: The rate of maternal mortality in Indonesia according to 2002–2003 Indonesian Demographic and Health Survey (IDHS) was 307 per 100,000 live births. The direct causes of maternal deaths, among others, are prolonged labor, hemorrhage, infection, and preeclampsia. Referral system includes referring responsibility to better facilitated healthcare sites to obtain more adequate services. However, maternal referral process in Banjar District still faces some problems such as referral health providers with inadequate skills of handling emergency cases, insufficient means of transportation, and no referral letter or partograph. Usually, when referred, the pregnant woman is only accompanied by her family so that she is brought to the referral site without being equipped with infusion. The objective of the study was to evaluate the parameter of maternal delivery referral in Ratu Zalekha Martapura District Hospital. Method: This study used observational study with a cross-sectional study design using quantitative and qualitative approaches. Samples were 107 delivering women referred to hospitals selected with non probability sampling. Data were analyzed with Chi-square (χ) and logistic regression test. Result: Quality maternal referral process resulted in healthy women 78.8%. Post delivery women's health was greater in quality maternal referral process (RP = 2.1; 95% CI = 1.28–3.52). Normal delivery had an opportunity towards post delivery women's health (RP = 1.6; 95% CI = 1.13–2.20). In addition, time needed to reach the referral sites and referral birth attendants were significantly associated with maternal referral process (p = 0.002 and p = 0.002). Meanwhile, women's condition when referred was insignificant statistically. Discussion: Quality maternal referral process could likely improve post delivery women's health. Normal delivery affected the women's health condition.

Charitable organizations are involved in activities of common concern to members and donors, but which normally benefit people beyond that membership. The survival of these organizations depends on donors and funders. The main objective of this study is to identify governance factors that affect donation. We posit that there are five governance factors related to donation. The governance factors are the board size, board members having professional qualification, board members with political connections, frequency of meeting, and website availability. Based on a sample of 98 charitable organizations, we found that the governance factors such as board members having professional affiliation and board members with political connections are significantly associated to donation received by the charitable organizations.

Cancer stem cells (CSCs) are a subpopulation of cancer cells that play a pivotal role in tumor development, invasion, metastasis, and recurrence. We and others have reported significant involvement of the NF-κB pathway in regulating CSCs of non-small cell lung cancer (NSCLC). In this study, we evaluated the effects of NF-κB inhibition on self-renewal, stemness, migration, and expression of genes involved in the epithelial to mesenchymal transition (EMT) and apoptosis resistance in lung CSCs. Different concentrations of the NF-κB inhibitor BMS-345541 (0.4, 4.0, and 10.0 µM), an inhibitor the NF-κB upstream kinase IKKβ, were used to treat both lung CSCs (CD166+CD44+, CD166+EpCAM+) and non-CSC NSCLC cells (CD166−CD44−, CD166−EpCAM−) in A549 and H2170 cell lines. We assessed the impact of BMS-345541 on the ability to form tumorspheres (self-renewal assay), expression of stemness genes (SOX2, OCT4, NANOG, SCA-1, and KLF4), migration, and expression of EMT and apoptosis-related genes. Inhibition of NF-κB by BMS-345541 effectively reduced the stemness, self-renewal, and migration capacity of lung CSCs. Moreover, expression of genes involved in the EMT (SNAI1 and TWIST) and apoptosis resistance (BCL-2, BAX, and BIRC5) was significantly reduced following the treatments, suggesting that NF-κB inhibition is sufficient to prevent the EMT and induce apoptosis in lung CSCs. Our findings suggest that NF-κB inhibition could reduce the capability of CSCs to maintain their population within the tumor mass, potentially decelerating cancer progression, relapse, and chemotherapy resistance.

Tapping into the ability of engineered mesenchymal stem cells (MSCs) to mobilise into the tumour has expanded the scope of cancer treatment. Engineered MSCs expressing tumour necrosis factor (TNF)-related apoptosis inducing ligand (MSC-TRAIL) could serve as a platform for an efficient and targeted form of therapy. However, the presence of cancer stem cells (CSCs) that are resistant to TRAIL and apoptosis may represent a challenge for effective treatment. Nonetheless, with the discovery of small molecular inhibitors that could target CSCs and tumour signalling pathways, a higher efficacy of MSC-TRAIL mediated tumour inhibition can be achieved. This might pave the way for a more effective form of combined therapy, which leads to a better treatment outcome. In this review, we first discuss the tumour-homing capacity of MSCs, its effect in tumour tropism, the different approach behind genetically-engineered MSCs, and the efficacy and safety of each agent delivered by these MSCs. Then, we focus on how sensitisation of CSCs and tumours using small molecular inhibitors can increase the effect of these cells to either TRAIL or MSC-TRAIL mediated inhibition. In the conclusion, we address a few questions and safety concerns regarding the utilization of engineered MSCs for future treatment in patients.

We report a novel deletion at the HBA2 presented with Hb H disease in two Malaysian- Chinese patients. The two unrelated probands were diagnosed with Hb H disease in a primary hematological screening for thalassemia. Results from routine molecular analysis with gap-polymerase chain reaction (PCR) method revealed a genotype asynchrony with the observed clinical presentation. Subsequent DNA analysis using a battery of molecular methods such as gap-PCR, multiplex ligation dependent probe amplification, DNA sequencing, confirmed the presence of a novel deletion in both the index cases removing the entire α2 globin gene. We have designated the deletion as (‒αMAL3.5). Hematological indices and clinical findings suggest that the deletion has an α+ phenotype. The molecular process of this deletion is the result from misalignment and unequal crossover event between the duplicated homologous Y-boxes within the α globin gene cluster. Uncharacterized deletions, single nucleotide polymorphism and other nucleotide indels at the primer binding sites may impede the optimum condition for its annealing and extension and therefore may invalidate the gap-PCR obscuring the real genotype.

ABSTRACT The premature ovarian failures with underlying chromosomal abnormalities are normally X-linked, although their associations with the autosomal and the Robertsonian translocations are also possible. Here, we are reporting a case of premature ovarian failure which was associated with a translocation between the long arm of chromosome 7 at q11.23 and the short arm of chromosome 5 at p15.3. The proband was a 26-year-old Malay woman who presented with premature ovarian failure, who was referred for cytogenetic testing due to the suspicion of a chromosomal anomaly. Her physical examination revealed that she had no abdominal or pelvic masses and that she had normal secondary sexual characteristics. Her medical history as well, revealed no points for concern. However, a consanguineous relationship existed, as the patient’s paternal grandmother and maternal grandfather were biological cousins. Our present case indicated that region p15.3 of chromosome 5 and region q11.23 of chromosome 7 possibly carried essential genes for the ovarian function and that they postulated a link between the consanguinity and the chromosomal abnormalities.

More than 50% of myeloma cases have normal karyotypes under conventional cytogenetic analysis due to low mitotic activity and content of plasma cells in the bone marrow. We used a polymerase chain reaction (PCR)-based translocation detection assay to detect BCL1/JH t(11;14) (q13;q32) in 105 myeloma patients, and randomly selected 8 translocation positive samples for array comparative genomic hybridization (aCGH) analysis. Our findings revealed 14.3% of myeloma samples were positive for BCL1/JH t(11;14) (q13;q32) translocation (n=15 of 105). We found no significant correlation between this translocation with age (P=0.420), gender (P=0.317), ethnicity (P=0.066) or new/relapsed status of multiple myeloma (P=0.412) at 95% confidence interval level by x2 test. In addition, aCGH results showed genomic imbalances in all samples analyzed. Frequent chromosomal gains were identified at regions 1q, 2q, 3p, 3q, 4p, 4q, 5q, 7q, 9q, 11q, 13q, 15q, 21q, 22q and Xq, while chromosomal losses were detected at 4q and 14q. Copy number variations at genetic loci that contain NAMPT, IVNS1ABP and STK17B genes are new findings that have not previously been reported in myeloma patients. Besides fluorescence in situ hybridization, PCR is another rapid, sensitive and simple technique that can be used for detecting BCL1/JH t(11;14)(q13;q32) translocation in multiple myeloma patients. Genes located in the chromosomal aberration regions in our study, such as NAMPT, IVNS1ABP, IRF2BP2, PICALM, STAT1, STK17B, FBXL5, ACSL1, LAMP2, SAMSN1 and ATP8B4 might be potential prognostic markers and therapeutic targets in the treatment and management of multiple myeloma patients positive for BCL1/JH t(11;14) (q13;q32) translocation.

Phyllanthus watsonii Airy Shaw is an endemic plant found in Peninsular Malaysia. Although there are numerous reports on the anti cancer properties of other Phyllanthus species, published information on the cytotoxicity of P. watsonii are very limited. The present study was carried out with bioassay-guided fractionation approach to evaluate the cytotoxicity and apoptosis induction capability of the P. watsonii extracts and fractions on human gynecologic (SKOV-3 and Ca Ski) and colon (HT-29) cancer cells. P. watsonii extracts exhibited strong cytotoxicity on all the cancer cells studied with IC(50) values of ≤ 20.0 µg/mL. Hexane extract of P. watsonii was further subjected to bioassay-guided fractionation and yielded 10 fractions (PW-1→PW-10). PW-4→PW-8 portrayed stronger cytotoxic activity and was further subjected to bioassay-guided fractionation and resulted with 8 sub-fractions (PPWH-1→PPWH-8). PPWH-7 possessed greatest cytotoxicity (IC(50) values ranged from 0.66-0.83 µg/mL) and was selective on the cancer cells studied. LC-MS/MS analysis of PPWH-7 revealed the presence of ellagic acid, geranic acid, glochidone, betulin, phyllanthin and sterol glucoside. Marked morphological changes, ladder-like appearance of DNA and increment in caspase-3 activity indicating apoptosis were clearly observed in both human gynecologic and colon cancer cells treated with P. watsonii especially with PPWH-7. The study also indicated that P. watsonii extracts arrested cell cycle at different growth phases in SKOV-3, Ca Ski and HT-29 cells. Cytotoxic and apoptotic potential of the endemic P. watsonii was investigated for the first time by bioassay-guided approach. These results demonstrated that P. watsonii selectively inhibits the growth of SKOV-3, Ca Ski and HT-29 cells through apoptosis induction and cell cycle modulation. Hence, P. watsonii has the potential to be further exploited for the discovery and development of new anti cancer drugs.

Most studies on black flies focus on the taxonomy and ecology of their aquatic stages. Despite posing a public health threat, the adults remain poorly studied in many countries, including Malaysia. The present study represents the first investigation of the distribution of wild-caught black flies from various ecological landscapes and climatic conditions in Malaysia. CO 2 -baited Malaise traps were set randomly at 41 sampling sites across Peninsular Malaysia from 2020 to 2023. In total, 532 black flies belonging to 14 species of four subgenera were captured. To ensure taxonomic rigor, specimens were identified to species morphologically and molecularly. The subgenus Gomphostilbia was the most abundant (71.43 %), followed by Simulium (14.28 %) and Davieselleum and Nevermannia each representing 7.14 % of the total captures. These species represented 14.74 % of the total species recorded from Malaysia. The most frequently collected species were Simulium roslihashimi (24.39 %), followed by S. aureohirtum, S. vanluni, and S. (Gomphostilbia) sp. 1 with 7.32 % each. The highest relative abundance was found for S. vanluni (86.09 %) and S. roslihashimi (7.14 %). Most species were found at elevation below 300 m (78.57 %); fewer were at elevation higher than 1,000 m (21.43 %). Two principal components accounted for 85.3 % of the total intersite variance. Simulium roslihashimi was found at almost every site, with a maximum relative humidity of 90 %. Simulium aureohirtum and S. vanluni were found at sites with relative humidity up to 73 %, but S. aureohirtum was found at higher temperatures (31 °C) compared with S. roslihashimi (28 °C) and S. vanluni (29 °C). The present study establishes the groundwork for further studies of wild adults in Malaysia and identifies the need to use more traps over the range of seasons and environmental conditions, particularly near breeding sites., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Background: Over recent decades, splenic angioembolization (SAE) as an adjunct to non-operative management (NOM) has emerged as a prominent intervention for patients with blunt splenic injuries (BSI). SAE improves patient outcomes, salvages the spleen, and averts complications associated with splenectomy. This systematic review aimed to evaluate the failure rate and complications related to SAE in patients with BSI., Methods: A systematic literature search (PubMed, SCOPUS, and Cochrane Library) focused on studies detailing splenic angioembolization in blunt trauma cases. Articles that fulfilled the predetermined inclusion criteria were included. This review examined the indications, outcomes, failure rate, and complications of SAE., Results: Among 599 identified articles, 33 met the inclusion criteria. These comprised 29 retrospective studies, three prospective studies, and one randomized control trial. The analysis encompassed 25,521 patients admitted with BSI and 3,835 patients who underwent SAE. The overall failure rate of SAE was 5.3 %. Major complications predominantly were rebleeding (4.8 %), infarction (4.6 %), and abscess formation (4 %). Minor complications were fever (18.4 %), pleural effusion (13.1 %), and coil migration (3.9 %). Other complications included splenic atrophy, splenic cyst, hematoma, and access site complications such as splenic/femoral dissection. Overall, post embolization mortality was 0.08 %., Conclusion: SAE is a valuable adjunct in managing BSI, with a low failure rate. However, this treatment modality is not without the risk of potentially serious complications., Competing Interests: Declaration of competing interest All authors have no conflict of interests or financial issues to declare., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Neoschoengastia gallinarum is widely distributed in Asia, preferentially parasitising birds, and heavy infestations have clinical impacts on domestic fowl. In common with other trombiculid mites, the genetic diversity and potential variation in host preferences or pathology induced by N. gallinarum are poorly understood. This study aimed to unravel the geographical variation and population structure of N. gallinarum collected from galliform birds in Peninsular Malaysia and Thailand by inference from concatenated mitochondrial-encoded cytochrome c oxidase subunit I (COI), and nuclear-encoded internal transcribed spacer 2 (ITS2) and 18S ribosomal DNA gene sequences, including a comparison with previously published data from southeastern China. Our multi-locus sequence analysis revealed three monophyletic clades comprising (A) specimens from Peninsular Malaysia, (B) the samples from Thailand together with a minority of Chinese sequences, and (C) the majority of sequences from China. Similarly, most species delimitation approaches divided the specimens into three operational taxonomic units. Analysis of molecular variance revealed 96.41% genetic divergence between Malaysian and Thai populations, further supported by the absence of gene flow (N m = 0.01). In conclusion, despite the two countries sharing a land border, populations of N. gallinarum from Peninsular Malaysia and Thailand appear to be genetically segregated and may represent distinct cryptic species.

Von Willebrand disease (VWD) is the most common inherited bleeding disorder. It is primarily attributed to malfunctioning or deficient Von Willebrand factor (VWF). Thromboelastography (TEG) has emerged as a valuable tool for assessing coagulation dynamics and guiding transfusion therapy in bleeding patients. Given this, we present a case study of a 23-year-old pregnant female with a past medical history of type 2B VWD, wherein TEG was employed to optimize disease screening and therapy monitoring while minimizing costs and preventing complications associated with low platelet counts. This case underscores the potential utility of TEG in enhancing the care of VWD patients, particularly in unique critical settings such as pregnancy., (© 2024 by the Association of Clinical Scientists, Inc.)

The gut microbiome refers to the microorganism community living within the digestive tract. The environment plays a crucial role in shaping the gut microbiome composition of animals. The gut microbiome influences the health and behavior of animals, including the critically endangered Malayan tiger (Panthera tigris jacksoni). However, the gut microbiome composition of Malayan tigers, especially those living in their natural habitats, remains poorly understood. To address this knowledge gap, we used next-generation sequencing DNA metabarcoding techniques to analyze the gut microbiome of wild Malayan tigers using fecal samples collected from their natural habitats and in captivity. Our aim was to determine the gut microbiota composition of the Malayan tiger, considering the different types of habitat environments. The results revealed a diverse microbial community within the gut microbiome of Malayan tigers. The prominent phyla that were observed included Firmicutes, Proteobacteria, Actinobacteriota, Fusobacteriota and Bacteroidota. Beta diversity analysis revealed significant differences in gut microbiome composition of Malayan tigers that inhabited oil palm plantations, in villages and protected areas. Diversity analysis also revealed significant difference in the gut microbiome between wild and captive Malayan tigers. However, the distinctions of gut microbiome between wild and captive alpha diversity did not yield significant differences. The differences in microbiome diversity resulted from the interplay of dietary intake and environmental factors. This information will facilitate the establishment of focused conservation approaches and enhance our understanding of the effect of microbiome composition on Malayan tiger health., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

Mitochondrial cytochrome c oxidase subunit I (COI) sequences were utilized to infer the population genetic structure of Simulium (Gomphostilbia) atratum De Meijere, an endemic simulid species to Indonesia. Both median-joining haplotype network and maximum-likelihood tree revealed two genetic lineages (A and B) within the species, with an overlap distribution in Lombok, which is situated along Wallace's line. Genetic differentiation and gene flow with varying frequencies (F ST  = 0.02-0.967; N m  = 0.01-10.58) were observed between populations of S. (G.) atratum, of which population pairs of different lineages showed high genetic differentiation. Notably, the high genetic distance of up to 5.92 % observed within S. (G.) atratum in Lombok was attributed to the existence of two genetically distinct lineages. The co-occurrence of distinct lineages in Lombok indicated that Wallace's line did not act as faunistic border for S. (G.) atratum in the present study. Moreover, both lineages also exhibited unimodal distributions and negative values of neutrality tests, suggesting a pattern of population expansion. The expansion and divergence time estimation suggested that the two lineages of S. (G.) atratum diverged and expanded during the Pleistocene era in Indonesia., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023. Published by Elsevier B.V.)

Understanding the factors associated with the species diversity and distribution of insect vectors is critically important for disease epidemiology. Black flies (Diptera: Simuliidae) are significant hematophagous insects, as many species are pests and vectors that transmit pathogens to humans and other animals. Ecological factors associated with black fly species distribution have been extensively examined for the immature stages but are far less well explored for the adult stage. In this study, we collected a total of 7706 adult black fly specimens from various locations in forests, villages and animal shelters in Thailand. The integration of morphology and DNA barcoding revealed 16 black fly taxa, including Simulium yvonneae , a species first found in Vietnam, which is a new record for Thailand. The most abundant species was the Simulium asakoae complex ( n = 5739, 74%), followed by S. chumpornense Takaoka and Kuvangkadilok (n = 1232, 16%). The Simulium asakoae complex was dominant in forest (3786 of 4456; 85%) and village (1774 of 2077; 85%) habitats, while S. chumpornense predominated (857 of 1175; 73%) in animal shelter areas. The Simulium asakoae complex and S. nigrogilvum Summers, which are significant pests and vectors in Thailand, occurred at a wide range of elevations, although the latter species was found mainly in high (>1000 m) mountain areas. Simulium chumpornense , S. nodosum Puri and the S. siamense Takaoka and Suzuki complex occurred predominately in low (<800 m)-elevation areas. Simulium furvum Takaoka and Srisuka; S. phurueaense Tangkawanit, Wongpakam and Pramual; and S. nr . phurueaense were only found in high (>1000 m) mountain areas. A host blood meal analysis revealed that the S. asakoae ; S. chamlongi Takaoka and Suzuki; S. nigrogilvum ; S. chumpornense ; and the S. striatum species group were biting humans. This is the first report of the latter two species biting humans. We also found that S. chumpornense was biting turkeys, and S. chamlongi was biting chickens, which are new host blood sources recorded for these species. In addition, we found that the S. feuerborni Edwards complex was biting water buffalo, which is the first report on the biting habits of this species.

Background: The study's objective is to assess the adherence of C. albicans in different types of denture polymers and the effectiveness of eugenol and commercialized denture cleansers in the removal of C. albicans . Three types of denture base polymers (Lucitone ® 199 (High-Impact PMMA), Impact ® (conventional PMMA) and Eclipse ® (UDMA)) and two hard denture reline materials (Kooliner ® and Tokuyama ® Rebase II Fast) were used in this study., Methods: Three hundred samples were prepared (6 × 2 mm disc shape) and divided into five groups of denture polymers ( n  = 60) and further subjected into five treatment groups (Polident ® , Steradent, distilled water, eugenol 5-minutes, and eugenol 10-min). Three samples were extracted from each treatment group for baseline data ( n  = 12). Baseline data were used to calculate the initial number of C. albicans adherence. A 0.5 ml immersion solution from each specimen was cultured on YPD agar and incubated for 48 h at 37 °C. Visible colonies were counted using a colony counter machine (ROCKER Galaxy 230)., Results: The result showed that the denture base polymer significantly affected the initial adherence ( p  = 0.007). The removal of C. albicans was also considerably affected by the denture base polymers and denture cleansers ( p  < 0.05). Lucitone ® , Tokuyama ® , and Kooliner ® denture base polymers immersed for 3 min in eugenol showed the best results of removal., Discussion: This study's overall results showed that all denture polymers used as denture bases had an effect on C. albicans initial adherence and removal from the denture base, and eugenol is comparable to commercialised denture cleansers in reducing the number of attached C. albicans on denture base polymers., Competing Interests: The authors declare there are no competing interests., (©2023 Zanul Abidin et al.)

This paper presents a system that utilizes vision transformers and multimodal feedback modules to facilitate navigation and collision avoidance for the visually impaired. By implementing vision transformers, the system achieves accurate object detection, enabling the real-time identification of objects in front of the user. Semantic segmentation and the algorithms developed in this work provide a means to generate a trajectory vector of all identified objects from the vision transformer and to detect objects that are likely to intersect with the user's walking path. Audio and vibrotactile feedback modules are integrated to convey collision warning through multimodal feedback. The dataset used to create the model was captured from both indoor and outdoor settings under different weather conditions at different times across multiple days, resulting in 27,867 photos consisting of 24 different classes. Classification results showed good performance (95% accuracy), supporting the efficacy and reliability of the proposed model. The design and control methods of the multimodal feedback modules for collision warning are also presented, while the experimental validation concerning their usability and efficiency stands as an upcoming endeavor. The demonstrated performance of the vision transformer and the presented algorithms in conjunction with the multimodal feedback modules show promising prospects of its feasibility and applicability for the navigation assistance of individuals with vision impairment.

Background: Prompt and precise identification of black flies (Simuliidae) is crucial, given their biting behaviour and significant impact on human and animal health. To address the challenges presented by morphology and chromosomes in black fly taxonomy, along with the limited availability of molecular data pertaining to the black fly fauna in Vietnam, this study employed DNA-based approaches. Specifically, we used mitochondrial and nuclear-encoded genes to distinguish nominal species of black flies in Vietnam., Methods: In this study, 135 mitochondrial cytochrome c oxidase subunit I (COI) sequences were established for 45 species in the genus Simulium in Vietnam, encompassing three subgenera (Gomphostilbia, Nevermannia, and Simulium), with 64 paratypes of 27 species and 16 topotypes of six species. Of these COI sequences, 71, representing 27 species, are reported for the first time., Results: Combined with GenBank sequences of specimens from Malaysia, Myanmar, Thailand, and Vietnam, a total of 234 DNA barcodes of 53 nominal species resulted in a 71% success rate for species identification. Species from the non-monophyletic Simulium asakoae, S. feuerborni, S. multistriatum, S. striatum, S. tuberosum, and S. variegatum species groups were associated with ambiguous or incorrect identifications. Pairwise distances, phylogenetics, and species delimitation analyses revealed a high level of cryptic diversity, with discovery of 15 cryptic taxa. The current study also revealed the limited utility of a fast-evolving nuclear gene, big zinc finger (BZF), in discriminating closely related, morphologically similar nominal species of the S. asakoae species group., Conclusion: This study represents the first comprehensive molecular genetic analysis of the black fly fauna in Vietnam to our knowledge, providing a foundation for future research. DNA barcoding exhibits varying levels of differentiating efficiency across species groups but is valuable in the discovery of cryptic diversity., (© 2023. BioMed Central Ltd., part of Springer Nature.)

Obesity is known as a transgenerational vicious cycle and has become a global burden due to its unavoidable complications. Modern approaches to obesity management often involve the use of pharmaceutical drugs and surgeries that have been associated with negative side effects. In contrast, natural antioxidants, such as flavonoids, have emerged as a promising alternative due to their potential health benefits and minimal side effects. Thus, this narrative review explores the potential protective role of flavonoids as a natural antioxidant in managing obesity. To identify recent in vivo studies on the efficiency of flavonoids in managing obesity, a comprehensive search was conducted on Wiley Online Library, Scopus, Nature, and ScienceDirect. The search was limited to the past 10 years; from the search, we identified 31 articles to be further reviewed. Based on the reviewed articles, we concluded that flavonoids offer novel therapeutic strategies for preventing obesity and its associated co-morbidities. This is because the appropriate dosage of flavonoid compounds is able to reduce adipose tissue mass, the formation of intracellular free radicals, enhance endogenous antioxidant defences, modulate the redox balance, and reduce inflammatory signalling pathways. Thus, this review provides an insight into the domain of a natural product therapeutic approach for managing obesity and recapitulates the transgenerational inheritance of obesity, the current available treatments to manage obesity and its side effects, flavonoids and their sources, the molecular mechanism involved, the modulation of gut microbiota in obesity, redox balance, and the bioavailability of flavonoids. In toto, although flavonoids show promising positive outcome in managing obesity, a more comprehensive understanding of the molecular mechanisms responsible for the advantageous impacts of flavonoids-achieved through translation to clinical trials-would provide a novel approach to inculcating flavonoids in managing obesity in the future as this review is limited to animal studies.

Background: DNA barcoding is a valuable taxonomic tool for rapid and accurate species identification and cryptic species discovery in black flies. Indonesia has 143 nominal species of black flies, but information on their biological aspects, including vectorial capacity and biting habits, remains underreported, in part because of identification problems. The current study represents the first comprehensive DNA barcoding of Indonesian black flies using mitochondrial cytochrome c oxidase subunit I (COI) gene sequences., Methods: Genomic DNA of Indonesian black fly samples were extracted and sequenced, producing 86 COI sequences in total. Two hundred four COI sequences, including 118 GenBank sequences, were analysed. Maximum likelihood (ML) and Bayesian inference (BI) trees were constructed and species delimitation analyses, including ASAP, GMYC and single PTP, were performed to determine whether the species of Indonesian black flies could be delineated. Intra- and interspecific genetic distances were also calculated and the efficacy of COI sequences for species identification was tested., Results: The DNA barcodes successfully distinguished most morphologically distinct species (> 80% of sampled taxa). Nonetheless, high maximum intraspecific distances (3.32-13.94%) in 11 species suggested cryptic diversity. Notably, populations of the common taxa Simulium (Gomphostilbia) cheongi, S. (Gomphostilbia) sheilae, S. (Nevermannia) feuerborni and S. (Simulium) tani in the islands of Indonesia were genetically distinct from those on the Southeast Asian mainland (Malaysia and Thailand). Integrated morphological, cytogenetic and nuclear DNA studies are warranted to clarify the taxonomic status of these more complex taxa., Conclusions: The findings showed that COI barcoding is a promising taxonomic tool for Indonesian black flies. The DNA barcodes will aid in correct identification and genetic study of Indonesian black flies, which will be helpful in the control and management of potential vector species., (© 2023. The Author(s).)

Background: The 18q- deletion syndrome is a rare congenital chromosomal disorder caused by a partial deletion of the long arm of chromosome 18. The diagnosis of a patient with this syndrome relies on the family medical history, physical examination, developmental assessment, and cytogenetic findings. However, the phenotype of patients with 18q- deletion syndrome can be highly variable, ranging from almost normal to severe malformations and intellectual disability, and normal cytogenetic findings are common, thus complicating the diagnosis. Interestingly, only few characteristic features of typical 18q- deletion syndrome were found in the patient, despite sharing the same critical region. To our knowledge, this is the first report of a Malaysian individual with 18q- terminal microdeletion diagnosed with microarray-based technology., Case Presentation: Here we report a 16-year-old Malaysian Chinese boy, a product of a non-consanguineous marriage, who presented with intellectual disability, facial dysmorphism, high arched palate, congenital talipes equinovarus (clubfoot), congenital scoliosis, congenital heart defect, and behavioral problems. A routine chromosome analysis on 20 metaphase cells showed a normal 46, XY G-banded karyotype. Array-based comparative genomic hybridization was performed using a commercially available 244 K 60-mer oligonucleotide microarray slide according to the manufacturer's protocol. This platform allows genome-wide survey and molecular profiling of genomic aberrations with an average resolution of about 10 kB. In addition, multiplex ligation-dependent probe amplification analysis was carried out using SALSA MLPA kit P320 Telomere-13 to confirm the array-based comparative genomic hybridization finding. Array-based comparative genomic hybridization analysis revealed a 7.3 MB terminal deletion involving chromosome band 18q22.3-qter. This finding was confirmed by multiplex ligation-dependent probe amplification, where a deletion of ten probes mapping to the 18q22.3-q23 region was detected, and further multiplex ligation-dependent probe amplification analysis on his parents showed the deletion to be de novo., Conclusion: The findings from this study expand the phenotypic spectrum of the 18q- deletion syndrome by presenting a variation of typical 18q- deletion syndrome features to the literature. In addition, this case report demonstrated the ability of the molecular karyotyping method, such as array-based comparative genomic hybridization, to assist in the diagnosis of cases with a highly variable phenotype and variable aberrations, such as 18q- deletion syndrome., (© 2023. The Author(s).)

Mermithids are the most common parasites of black flies and are associated with host feminization and sterilization in infected hosts. However, information on the species / lineage of black fly mermithids in Southeast Asia, including Malaysia requires further elucidation. In this study, mermithids were obtained from black fly larvae collected from 138 freshwater stream sites across East and West Malaysia. A molecular approach based on nuclear-encoded 18S ribosomal RNA (18S rRNA) gene was used to identify the species identity / lineage of 77 nematodes successfully extracted and sequenced from the specimens collected. Maximum likelihood and neighbor-joining phylogenetic analyses demonstrated five distinct mermithid lineages. Four species delimitation analyses: automated simultaneous analysis phylogenetics (ASAP), maximum likelihood Poisson tree processes with Bayesian inferences (bPTP&#95;ML), generalized mixed yule coalescent (GMYC) and single rate Poisson tree processes (PTP) were applied to delimit the species boundaries of mermithid lineages in this data set along with genetic distance analysis. Data analysis supports five distinct lineages or operational taxonomic units for mermithids in the present study, with two requiring further investigation as they may represent intraspecific variation or closely related taxa. One mermithid lineage was similar to that previously observed in Simulium nigrogilvum from Thailand. Co-infection with two mermithids of different lineages was observed in one larva of Simulium trangense. This study represents an important first step towards exploring other aspects of host - parasite interactions in black fly mermithids., (Copyright © 2023 Elsevier B.V. All rights reserved.)