Maulida Mazaya

Indonesian Institute of Sciences

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Inna Syafarina

Indonesian Agency for Agricultural Research and Development

Yung‐Keun Kwon

University of Ulsan

Ariani Indrawati

National Research and Innovation Agency

Lalu Muhammad Irham

Universitas Ahmad Dahlan

Wirawan Adikusuma

University of Muhammadiyah Mataram

Nur Afny Catur Andryani

Binus University

Hasnah Natsir

Hasanuddin University

Anis Kamilah Hayati

Indonesian National Institute of Aeronautics and Space

Dewi Luthfiana

Nagoya University

Syam Budi Iryanto

National Research and Innovation Agency

Cooperative Institutions

National Research and Innovation Agency

Hasanuddin University

Indonesian Institute of Sciences

National Nuclear Energy Agency of Indonesia

Universitas Gadjah Mada

Indonesian Agency for Agricultural Research and Development

Binus University

Universitas Ahmad Dahlan

University of Indonesia

National Research, Development and Innovation Office

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Skin Microbial Composition and Genetic Mutation Analysis in Precision Medicine for Epidermolysis Bullosa

Current Drug Targets (2024)

Inna Syafarina Maulida Mazaya Ariani Indrawati Sharfina Zahra Akbar Caecilia Sukowati

Epidermolysis bullosa (EB) is an inherited skin disease representing a spectrum of rare genetic disorders. These conditions share the common trait that causes fragile skin, resulting in the development of blisters and erosions. The inheritance follows an autosomal pattern, and the array of clinical presentations leads to significant physical suffering, considerable morbidity, and mortality. Despite EB having no cure, effectively managing EB remains an exceptional challenge due to its rarity and complexity, occasionally casting a profound impact on the lives of affected individuals. Considering that EB management requires a multidisciplinary approach, this sometimes worsens the condition of patients with EB due to inappropriate handling. Thus, more appropriate and precise treatment management of EB is essentially needed. Advanced technology in medicine and health comes into the bioinformatics era. Including treatment for skin diseases, omics-based approaches aim to evaluate and handle better disease management and treatment. In this work, we review several approaches regarding the implementation of omics-based technology, including genetics, pathogenic mutation, skin microbiomics, and metagenomics analysis for EB. In addition, we highlight recent updates on the potential of metagenomics analysis in precision medicine for EB.

Personalized Medicine

Omics

10.2174/0113894501290512240327091531

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Integration of genomics database and bioinformatics to identify genome-wide variants for myasthenia gravis across multiple continents

Brain Behavior and Immunity Integrative (2023)

Dwiki Fitri Lalu Muhammad Irham Nanik Sulistyani Muhammad Farid Ma’ruf Anisa Nova Puspitaningrum

Autoimmune disease is an immune response that damages the body's tissues, thereby disrupting the body's physiological functions. Myasthenia gravis represents one such condition characterized by muscle weakness due to impaired neuromuscular transmission. While it can affect anyone, it tends to be more prevalent among women aged 20-30 and men over 50. This disease, deemed a genetic disorder, typically emerges in old age when antibodies target receptors in the muscles. In this study, we sought to identify the genes that can affect myasthenia gravis by leveraging several databases, including the GWAS Catalog, HaploReg Version 4.2, GTEX portal, and ensemble. Specifically, our focus was on exploring genomic variants and the expression of the LTA and CTLA4 genes. Our findings reveal that two variants (rs2071591 and rs231770) impact LTA expression in both muscle and brain tissue, while affecting CTLA4 expression in testicular cell tissue. Subsequently, we assessed the allele frequency of these variants across regional populations, namely African, American, East Asian, European, and Southeast Asian. This study demonstrates that the LTA and CTLA4 genes have a higher frequency in African, East Asian, and European populations compared to American and Southeast Asian populations. Consequently, our finding suggests that the latter two populations might have relatively higher susceptibility to the autoimmune disease myasthenia gravis. Therefore, variations in these genes not only offer insights into disease susceptibility, diagnostic and prognostic biomarkers but also open avenues for identifying candidate drug targets through genomic-driven drug repurposing.

10.1016/j.bbii.2023.100041

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Computational Systems and Network Biology Perspective: Understanding Klebsiella pneumoniae Infection Mechanisms

The Microbe (2024)

Maulida Mazaya Novaria Sari Dewi Panjaitan Anis Kamilah Hayati

10.1016/j.microb.2024.100175

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Analysis of Segmentation Method for Skin's Lesions Identification

Nur Afny Catur Andryani Malik Fajar Hidayatullah Willy Yen Owen Jaya Terawan Maulida Mazaya

Artificial Intelligence support for medical purposes has been raised in various aspects. The post pandemic issue stimulates the hype of tele-medicine technology support for rural areas. In the context of dermatology healthcare, the imbalance distribution of dermatologist makes general practitioners the main medical expertise who deliver dermatology healthcare in rural areas. Thus, tele-medicine occupied with AI-based diagnostic system will be very helpful to not only connecting the general practitioner to the dermatologist but also supporting them with AI-based skin diseases diagnostic system. Constructing AI model for skin diseases spot diagnostic system is not easy. Proving high performance accuracy should be delivered basedon given skin's diseases image. one of the ways to increase the performance is by localizing the lesion hence easy to capture the feature behind. Hence, image segmentation is urgent for lesion localization to improve the AI-diagnosis accuracy. This paper evaluates various approaches of segmentation method to localize skin's lesion on given image. The analysis is delivered subject to the skin pigmentation level, pigmentation contrast between the healthy skin and the lesion and the lesion distribution. As overall, Grab-cut show the most robust for any kind of given conditions. Even though the performance does not meet the requirements yet, the success rate is quite stable good on every condition with given constraints. Observation on semantic based segmentation method and instance-based segmentation is also discussed to address the localization objectives utilization.

Identification

10.1109/icitcom60176.2023.10442460

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Exploring the potential of metalloporphyrin-like C54N4 fullerene (TM-PC60F) nanoclusters as new drug delivery platform for 5-fluorouracil: A DFT and QTAIM study

Diamond and Related Materials (2024)

Lala Adetia Marlina Aulia Sukma Hutama Ihsanul Arief Maulida Mazaya Inna Syafarina

Nanoclusters

10.1016/j.diamond.2024.111267

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AI-based Paediatric Teledermatology Analysis and Proposed Framework

Nur Afny Catur Andryani Said Achmad Muhamad Keenan Ario Jerikho Steven Sun

Teledermatology technology development has been increasing due to the pandemic of COVID-19 which limit human physical contact. In addition, it is designed to cope with the unbalanced distribution of dermatologists especially in rural country including Indonesia. It implies that the dermatology health care are provided by general practitioners. The competence of general practitioners in dealing with dermatological diseases is limited. Therefore, the probability of misdiagnosis cases is considerably high. The misdiagnosis will delay the recovery which will affect the quality of life. Specifically for paediatric cases, misdiagnosis could affect the child's growth and development. Connecting the general practitioner to the specialist or consultant and supporting them with AI-based technology through teledermatology technology becomes urgent due to these issues. This paper aims to present a literature review on the development of teledermatology worldwide with its scope and objectives. The PRISMA flowchart method is used to outline the effectiveness of the teledermatology system and its features. The presented literature review provides insight into the urgency of teledermatology system in each country, framework modelling and significant features. In addition, this paper contributes to propose paediatric teledermatology design in Indonesia based on the local background and insight of recent teledermatology technology development point of views.

Teledermatology

10.1109/ibitec59006.2023.10390932

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Clinical Research Protocol, Data Management, and Analysis Model for Epidermolysis bullosa (EB) Biomedical Data Acquisitions Towards Precision Medicine of Indonesian Patients

Inna Syafarina Maulida Mazaya Ariani Indrawati Suci Widhiati I Wayan Aditya Swardiana

Epidermolysis bullosa (EB), a rare genetic skin disorder, poses significant challenges in treatment management due to its complexity and rarity. In response to the pressing need for more precise treatment approaches, this study presents a robust research protocol, comprehensive data management, and an analytical model for collecting biomedical data from Indonesian EB patients and managing it with the SRIKANDI and InNA. The study, ethically approved by the BRIN Ethical Clearance Commission, aims to fill a critical gap in the skin microbiome data specific to Indonesian EB patients. The proposed methodology for data analysis involves a multidisciplinary approach, integrating bioinformatics and metagenomic analysis to explore the microbiome profile in EB patients. The anticipated results are expected to provide insights into a complex interplay between genetics, microbiome, and clinical manifestations, paving the way for advancements in precision medicine for EB patients. This paper outlines the regulatory framework, research design, population, and sample criteria, and details of data management and analysis. By presenting this research protocol, we aim to contribute to more appropriate treatment toward precision medicine for EB patients in the near future and can be the pilot study of similar research.

10.1109/icicyta60173.2023.10428699

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Construction of an Effectiveness Network to Identify Dynamical Interaction of Genes

Proceedings of the Korea Information Processing Society Conference (2014)

Maulida Mazaya Yung‐Keun Kwon

10.3745/pkips.y2014m11a.837

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Effects of ordered mutations on dynamics in signaling networks

BMC Medical Genomics (2020)

Maulida Mazaya Hung-Cuong Trinh Yung‐Keun Kwon

Abstract Background Many previous clinical studies have found that accumulated sequential mutations are statistically related to tumorigenesis. However, they are limited in fully elucidating the significance of the ordered-mutation because they did not focus on the network dynamics. Therefore, there is a pressing need to investigate the dynamics characteristics induced by ordered-mutations. Methods To quantify the ordered-mutation-inducing dynamics, we defined the mutation-sensitivity and the order-specificity that represent if the network is sensitive against a double knockout mutation and if mutation-sensitivity is specific to the mutation order, respectively, using a Boolean network model. Results Through intensive investigations, we found that a signaling network is more sensitive when a double-mutation occurs in the direction order inducing a longer path and a smaller number of paths than in the reverse order. In addition, feedback loops involving a gene pair decreased both the mutation-sensitivity and the order-specificity. Next, we investigated relationships of functionally important genes with ordered-mutation-inducing dynamics. The network is more sensitive to mutations subject to drug-targets, whereas it is less specific to the mutation order. Both the sensitivity and specificity are increased when different-drug-targeted genes are mutated. Further, we found that tumor suppressors can efficiently suppress the amplification of oncogenes when the former are mutated earlier than the latter. Conclusion Taken together, our results help to understand the importance of the order of mutations with respect to the dynamical effects in complex biological systems.

Suppressor mutation

10.1186/s12920-019-0651-z

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Nutritional profiling and in silico analysis of pharmacological activities from local rice Pulu Mandoti fermented with Pleurotus spp.

World Journal of Microbiology and Biotechnology (2024)

Khurul Aini Indah Nurjannah Apon Zaenal Mustopa Andi Masniawati Fatimah Fatimah Herman Irawan

Pleurotus

Butylated hydroxytoluene

10.1007/s11274-024-03979-z

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