CASE REPORT | Dec. 25, 2024
Thyroid Hormone Resistance (Positive THRB Gene), Child Case Study
Rawan Aqeel Alharbi, Yara Khaled Arfaj, Eman Mohammed Alshehri, Mohammed Abdullah Alkhaldi
Page no 555-559 |
DOI: https://doi.org/10.36348/sjm.2024.v09i12.007
Introduction: Thyroid hormone resistance (RTHβ) is a rare disorder characterized by reduced tissue responsiveness to thyroid hormones (THs). It is primarily caused by mutations in the thyroid hormone receptor beta (THRB) gene. This case describes a two-year-old boy diagnosed with RTHβ following the incidental detection of elevated thyroid hormones during a routine checkup. The clinical presentation, laboratory findings, genetic analysis, and implications for management are discussed, highlighting the complexities of this rare condition. Patient concern and Clinical Finding: A two-year-old boy was referred to the Pediatric Endocrinology Department due to elevated FT4 and FT3 levels with normal TSH identified in routine blood tests. Born at 36 weeks after an uneventful pregnancy to non-consanguineous parents, the child had normal growth and development until subtle symptoms, such as reduced physical activity, weight loss despite adequate nutrition, and warm, sweaty skin, were observed. Physical examination showed no goiter or ophthalmopathy, with neurological development appropriate for age and weight and height within normal percentiles. Laboratory tests revealed elevated thyroid hormone levels, negative thyroid antibodies, and normal thyroid ultrasound findings. Diagnosis/Intervention/Outcomes: The diagnosis of resistance to thyroid hormone beta (RTHβ) was confirmed through whole exome sequencing, which identified a heterozygous missense mutation in the THRB gene (c.1313G>A; p.R438H). This de novo mutation ruled out inheritance and suggested a sporadic origin. Regular monitoring of thyroid function tests and clinical follow-ups ensured biochemical stability and vigilance for potential symptoms of thyroid dysfunction. The child remained clinically euthyroid with normal growth and development, showing peripheral adaptation to altered thyroid hormone signaling. Long-term surveillance was recommended to monitor for any late-onset complications or thyroid-related symptoms, with an overall favorable prognosis. Conclusion: This case illustrates the complexities of diagnosing and managing RTHβ in a pediatric patient. The identification of a THRB mutation provided a definitive diagnosis and emphasized the utility of genetic testing. Long-term follow-up is essential to monitor the clinical course and adjust management as needed. Further studies are required to elucidate the genotype-phenotype correlations in RTHβ and optimize treatment strategies.
ORIGINAL RESEARCH ARTICLE | Dec. 25, 2024
Enhancing the Security of Medical Records in the Age of Cyber Threats: A Comprehensive Approach
Sultan Abdullah Almohesen, Ahmad abdulrahman alnoweser, Nasser suliman al- Nasser, Sulaiman Al Bawardi, Ibrahim S ALFwzan
Page no 551-554 |
DOI: https://doi.org/10.36348/sjm.2024.v09i12.006
The increasing digitization of medical records and the concurrent rise in cyber threats pose significant challenges to the security and integrity of health data globally. This article reviews contemporary challenges and solutions for enhancing the protection of medical records against potential cyber-attacks and inadvertent breaches. It addresses the current vulnerabilities that exist within systems handling medical records, outlines advanced technological solutions such as encryption, blockchain, AI, and multi-factor authentication, and discusses comprehensive policy measures that include regular audits, privacy by design concepts, and training programs. The article also explores critical legal and ethical considerations, emphasizing the need to balance accessibility and privacy. Finally, it proposes long-term strategic approaches to foster innovation in healthcare cybersecurity. Through this comprehensive review, the article aims to delineate effective strategies for securing medical records in the age of cyber threats, contributing to the safeguarding of patient privacy and the trust integrity of healthcare systems.
ORIGINAL RESEARCH ARTICLE | Dec. 24, 2024
Erythropoietin Resistance Index in Hemodialysis Patients: A Single Moroccan Center Experience
Zajjari Yassir, Laasli Hajar, Aragon Imane, Ahlonso Larios, Errihani Majdouline, Aatif Taoufiq, El Kabbaj Driss
Page no 205-211 |
DOI: https://doi.org/10.36348/sjbr.2024.v09i09.003
Introduction: Anemia is a common disorder in dialysis patients. The use of high doses of erythropoiesis stimulating agents is associated with poor outcomes in this population. The aim of this study, was to describe the response of ESA treatment in hemodialysis patients and determine the factors that can influence this response. Materials and Methods: We compared the effectiveness of erythropoietin treatment using the erythropoietin resistance index (ERI). The patients were divided into two groups according to their ERI: group 1 with ERI>10 UI/kg/week/g/100 ml and group 2 ERI 10 UI/kg/week/g/100 ml. We evaluated the effects of the anthropometric, demographic, clinical, laboratory and dialytic factors on ERI. Results: We found that low BMI, low serum albumin, high C-reactive protein, high serum ferritin and high predialysis serum 2 microglobulin levels were associated with high ERI and a hyporesponsiveness to erythropoietin. A multivariate analysis was showed significant association between high ERI and low serum albumin (OR=0.56; p=0.02). Conclusion: This may provide new contribution into anemia management in Hemodialysis patients. However, more prospective studies with a larger sample population are needed to generalize our results.
ORIGINAL RESEARCH ARTICLE | Dec. 24, 2024
Challenges of State Attorney's Authority in Handling Civil and State Administrative Cases in Indonesia
Rollana Mumpuni, Sri Endah Wahyuningsih, Eko Soponyono, Anis Mashdurohatun
Page no 430-439 |
DOI: https://doi.org/10.36348/sjhss.2024.v09i12.005
Prosecutors have an important role in law enforcement in society that has a strategic role and position, because they act as a filter in the investigation and examination process in court. The purpose of this study is to find and analyze the regulation of the authority of state attorneys in handling civil and state administrative cases today, to find and analyze the weaknesses of the regulation of the authority of state attorneys in handling civil and state administrative cases today, to find a reconstruction of the regulation of the authority of state attorneys in handling civil and state administrative cases based on the value of justice. The research method uses the constructivism paradigm, with a sociological legal approach method, and a descriptive research type. The types and sources of data use secondary data in the form of primary legal materials, secondary legal materials, and tertiary legal materials. The data collection method uses literature, and qualitative analysis methods. The results of the study are: 1). The regulation of the authority of state attorneys in handling civil and State Administrative cases is not yet fair, namely in the current era, there will be many activities that involve the active role of the government, both legal entities and State Administrative officials, in relations with the community. It is not uncommon for the authority of the government to be disturbed so that efforts are needed to protect and uphold the authority of the government; 2). The weaknesses of the regulation of the authority of state attorneys in handling civil and State Administrative cases currently consist of weaknesses in the aspects of legal substance, legal structure and legal culture. The weakness of the legal substance aspect is the absence of a legal statue that specifically and firmly regulates state attorneys, considering that the authority of the Prosecutor as a State Attorney in the civil field is increasingly important. The weakness of the legal structure aspect is the lack of synergy that causes overlapping authority. The weakness of the legal culture aspect is that in the current technological era, crimes can be committed through technology/electronics.
REVIEW ARTICLE | Dec. 24, 2024
Technology-Driven Curriculum Delivery in Islamic Studies: Implications for Teacher Education
Dr. Ja’afar Agaji Abdullahi, Dr. Rabi Bara’u, Dr. Shafi’u Nuhu
Page no 742-747 |
DOI: https://doi.org/10.36348/jaep.2024.v08i12.006
The integration of technology into curriculum delivery has revolutionized the landscape of education, particularly in teacher education. This paper explores the implications of technology-driven methods for teaching the Islamic Studies curriculum in the preparation of trainee teachers. The study examines the impact of incorporating digital methods such as digital storytelling, virtual field trips, simulations, and digital drills and practice in teaching specific topics in Islamic Studies. These methods enhance learner-centered approaches, critical thinking, and student engagement. Additionally, the paper addresses the challenges and opportunities associated with implementing these techniques. By understanding the transformative potential of technology, teacher education programs can equip educators with the necessary skills to navigate the evolving educational landscape and prepare Islamic Studies student-teachers to meet the demands of the 21st century.
Bryophytes are prevalent constituents of both terrestrial and aquatic ecosystems, contributing significantly to the overall biomass in certain environments. This investigation has specifically focused on endophytic fungi within terrestrial bryophytes that grew in winter conditions on surfaces, such as house walls, bricks, or soil. During these periods, species such as Bryum capillare, Polytrichum commune, and Riccia bifurca are commonly observed. These kinds of bryophyte plants during the monsoons do come alive again. These examine the distribution of fungi associated with these bryophyte species. We collected three bryophyte samples from the delta region. Twenty-seven fungal species and 108 endophyte isolates were obtained from 450 tissue segments from three plants. Endophyte isolates belonging to Ascomycetes, Coeleomycetes, Hyphomycetes, Sterile forms, Yeast-like strains and Zygomycetes were recorded. Thus, its diversity was found to be based on the fungi it isolated. The endophyte species were calculated using the method of diversity index, CF%, RPO, species index, and species richness index. We have suggested that even in a relatively small region, the diversity of fungal species can be found in desiccation-tolerant environments.
ORIGINAL RESEARCH ARTICLE | Dec. 24, 2024
Endovascular Revascularization of Symptomatic Subclavian Artery Stenosis: Clinical Outcomes and Lessons Learned
Aghoutane N, Taraa M, Larza Y
Page no 547-550 |
DOI: https://doi.org/10.36348/sjm.2024.v09i12.005
Objectives: To analyze the clinical characteristics, management approaches, and outcomes of revascularization for symptomatic subclavian artery stenosis in 6 patients treated at the vascular surgery department of Moulay Ismail Military Hospital in Meknes between December 2021 and December 2024. Methods: A retrospective study was conducted on 6 patients who underwent percutaneous transluminal angioplasty (PTA) with or without stent placement. Clinical, radiological, and procedural data were collected and analyzed. Results: All patients had cardiovascular risk factors. Technical success was achieved in all patients with an average stenosis reduction of 87%. Complete symptom resolution was observed in 80% of patients. Minor complications, including hematoma at the puncture site, were reported in 1 case. Conclusion: PTA with or without stenting is a safe and effective treatment option for symptomatic subclavian artery stenosis, providing significant clinical improvement.