Genealogical Analysis Research Articles

Paroxysmal extreme pain disorder associated with a mutation in SCN9A gene – Case report and own experiences

IntroductionPain is an unpleasant sensory and emotional experience, influenced by various factors. Paroxysmal extreme pain disorder (PEPD) is a rare genetic condition characterized by sudden bouts of pain accompanied by autonomic symptoms.Material, methods and aimThis manuscript presents the case of a 9-year-old boy with paroxysmal extreme pain syndrome and provides a review of the literature. Additionally, a genealogical analysis of the boy’s family was conducted to determine the total number of affected family members. The clinical data included an analysis of genetic tests to identify the mutation confirming PEPD.Result and conclusionA mutation in the SCN9A gene causes the disease, and due to the small number of patients worldwide (around 500, according to literature reports), an effective method of preventing extreme pain attacks had not been established at the time of writing this manuscript. Based on information from scientific sources and the authors’ experiences, it can be firmly stated that various, often difficult-to-identify factors cause paroxysmal extreme pain. This syndrome necessitates further research and the exploration of effective treatment methods.

Exploring cartographic genealogies through deformation analysis: case studies on ancient maps and synthetic data

ABSTRACT This paper presents a new methodology for identifying copying relationships in maps through cartographic deformation analysis, and introduces a novel approach for the creation of synthetic datasets for evaluation. Challenging traditional approaches that compare historical maps to modern ones for an accuracy assessment, this study focuses on the comparison between old maps through a modern reference map to identify copying processes. Using a synthetic dataset of deformed maps, this research introduces a novel way to assess deformation analysis results. The methodology’s effectiveness is demonstrated through experiments on the synthetic dataset and on five maps of Jerusalem where copying relationships are known, revealing that cosine similarity, filtered with vectors’ norm and combined with their ratio, offers a good discriminative power between maps that are complete copies and those which are not. The methodology, with the selected metric, is applied to a selection of fifty 19th-century maps of Jerusalem and used to create a hierarchical clustering. This approach enables the identification of complete copies of varying quality within large map collections. This study not only advances cartometric methodologies but also lays the groundwork for future research on the automatic detection of map lineages, marking progress toward the genealogical analysis of large cartographic datasets.

Algorithmic archaeologies and genealogies of hate: hidden histories and the scrambled temporalities of political affect

ABSTRACT In this article, I employ perspectives from media archaeology and genealogical analysis to examine the role of algorithms in creating political affect. I am concerned with the role of algorithms in generating, and not simply archiving, action. Algorithmic archaeologies enable us to track histories that are often forgotten or disavowed. Many of these histories are tied to empire, conquest, and warfare; some are intimately imbricated with prior forms of surveillance, the identification and marking of bodies as commodities and/or as dangerous, and formations of racial capitalism that are at once transnational and local. All algorithms are about creating and mobilizing taxonomies through, for instance, the formation of bodies of knowledge (data) that are selectively compiled, archived, and mined to specific ends. In seeking out hidden histories of algorithms, my objective is to push back against universalist and Eurocentric paradigms.

Assessing Jean Lartéguy’s The Centurions for the past, present, and future of irregular warfare

ABSTRACT Jean Lartéguy’s The Centurions (1960) became a must-read among coalition forces during the war on terror. The novel follows a French airborne battalion as it counters insurgencies in Vietnam and Algeria. It addresses the strategic and tactical issues associated with counterinsurgency as well as the psychological costs. What lessons were drawn from Lartéguy, and what does the novel tell us for the future? In addition to a close reading of the text, I engage in a genealogical analysis of the novel’s citations to determine how informal forms of doctrine filter through organizational cultures like the military and subtly guide policy.

Private detection of relatives in forensic genomics using homomorphic encryption.

Forensic analysis heavily relies on DNA analysis techniques, notably autosomal Single Nucleotide Polymorphisms (SNPs), to expedite the identification of unknown suspects through genomic database searches. However, the uniqueness of an individual's genome sequence designates it as Personal Identifiable Information (PII), subjecting it to stringent privacy regulations that can impede data access and analysis, as well as restrict the parties allowed to handle the data. Homomorphic Encryption (HE) emerges as a promising solution, enabling the execution of complex functions on encrypted data without the need for decryption. HE not only permits the processing of PII as soon as it is collected and encrypted, such as at a crime scene, but also expands the potential for data processing by multiple entities and artificial intelligence services. This study introduces HE-based privacy-preserving methods for SNP DNA analysis, offering a means to compute kinship scores for a set of genome queries while meticulously preserving data privacy. We present three distinct approaches, including one unsupervised and two supervised methods, all of which demonstrated exceptional performance in the iDASH 2023 Track 1 competition. Our HE-based methods can rapidly predict 400 kinship scores from an encrypted database containing 2000 entries within seconds, capitalizing on advanced technologies like Intel AVX vector extensions, Intel HEXL, and Microsoft SEAL HE libraries. Crucially, all three methods achieve remarkable accuracy levels (ranging from 96% to 100%), as evaluated by the auROC score metric, while maintaining robust 128-bit security. These findings underscore the transformative potential of HE in both safeguarding genomic data privacy and streamlining precise DNA analysis. Results demonstrate that HE-based solutions can be computationally practical to protect genomic privacy during screening of candidate matches for further genealogy analysis in Forensic Genetic Genealogy (FGG).

Mythological Identity and The Reconstruction of Spiritual Values in the Legend of Ratu Roro Kidul

ABSTRACT This study explores the mythological identity of Ratu Roro Kidul, a prominent figure in Indonesian folklore, and its implications for local spirituality and culture. Drawing from Mircea Eliade’s concept of mythology as a narrative structure that connects humans to the sacred and Joseph Campbell’s notion of mythological heroes as symbols of cultural identity, the study employs genealogical myth analysis to examine the origins, variations, and roles of Roro Kidul’s myth across Indonesia. The research highlights two main versions of the myth: one linking Roro Kidul to the Majapahit Kingdom as a goddess protecting the Southern Ocean, and the other associating her with the Kingdom of Pajajaran, emphasizing her transformation into a queen of spirits. Both versions reflect the intertwining of spiritual and historical narratives, with Roro Kidul serving as a guardian of nature and a symbol of political legitimacy, especially in relation to the Mataram Sultanate. The study concludes that the myth of Roro Kidul not only represents local beliefs but also functions as a tool for understanding the connection between humans, nature, and the supernatural, while playing a key role in shaping social and political identities in Java. This research paves the way for further studies on the role of myth in the construction of power and cultural identity in Southeast Asia.

Reevaluating student-centred education: uncovering learning difficulties stemming from empiricist epistemological assumptions

ABSTRACT This paper demonstrates that recurrent difficulties students encounter in learning subject-matter knowledge can be traced, in part, to assumptions about how students best learn knowledge that significantly shape instructional approaches. First, I review the significant influence of empiricist epistemological assumptions on education, covering student-centred pedagogical principles and instructional methods applied in progressive, constructivist, and conventional education. Empiricist epistemological assumptions presume that students learn best by relying primarily on and directly building upon their existing knowledge, experiences, and reasoning, particularly those familiar from everyday life. These assumptions have shaped pedagogical principles and methods such as relying on students' preinstructional knowledge and reasoning, concrete experiences, direct observations, or concrete visual images for learning. Next, I review evidence that empiricist-informed instructional applications often induce learning difficulties, such as erroneous inferences stemming from students' preinstructional knowledge, difficulty understanding content that diverges from students' prior knowledge, and confusion between concrete supports and abstract concepts. By tracing these difficulties to empiricist epistemological assumptions, this paper employs a genealogical epistemological analysis, which tracks the influence of epistemological assumptions on education across several levels, from pedagogical principles to instructional methods, down to students' learning. This analysis (a) explains the roots of certain learning difficulties and aids in anticipating them, (b) challenges pedagogical approaches by questioning their epistemological foundations, and (c) examines how the influence of problematic assumptions is connected to alignment with internationally promoted educational purposes. The influence of epistemological assumptions on education is significant yet understudied. Thus, the genealogical epistemological analysis proves crucial to critically analyze education.

Evaluation of Four Forensic Investigative Genetic Genealogy Analysis Approaches with Decreased Numbers of SNPs and Increased Genotyping Errors

Background: Forensic investigative genetic genealogy (FIGG) has developed rapidly in recent years and is considered a novel tool for crime investigation. However, crime scene samples are often of low quality and quantity and are challenging to analyze. Deciding which approach should be used for kinship inference in forensic practice remains a troubling problem for investigators. Methods: In this study, we selected four popular approaches—KING, IBS, TRUFFLE, and GERMLINE—comprising one method of moment (MoM) estimator and three identical by descent (IBD) segment-based tools and compared their performance at varying numbers of SNPs and levels of genotyping errors using both simulated and real family data. We also explored the possibility of making robust kinship inferences for samples with ultra-high genotyping errors by integrating MoM and the IBD segment-based methods. Results: The results showed that decreasing the number of SNPs had little effect on kinship inference when no fewer than 164 K SNPs were used for all four approaches. However, as the number decreased further, decreased efficiency was observed for the three IBD segment-based methods. Genotyping errors also had a significant effect on kinship inference, especially when they exceeded 1%. In contrast, MoM was much more robust to genotyping errors. Furthermore, the combination of the MoM and the IBD segment-based methods showed a higher overall accuracy, indicating its potential to improve the tolerance to genotyping errors. Conclusions: In conclusion, this study shows that different approaches have unique characteristics and should be selected for different scenarios. More importantly, the integration of the MoM and the IBD segment-based methods can improve the robustness of kinship inference and has great potential for applications in forensic practice.

CRAFTING A FOUCAULDIAN GENEALOGY METHOD FOR ANALYZING CURRICULUM-AS-DISCOURSE IN SOUTH AFRICA

Introduction/Frame: (Contextualization/Justification) Viewing curriculum as discourse can enable educators to identify how historical markers of discrimination are repeated. Historical markers are archaeologically embedded in the various dimensions of a curriculum and find expression in preferred ways of thinking, speaking, doing, and being. Such historical hypernorms are often maintained by practical rationalities, or technologies of power that reify their taken-for-granted legitimacy as ‘truth regimes’. Research Question/Objectives: This phase of the study aimed to critically explore and disclose how the (socio/politico-historically constructed) rules of knowledge-formation in a contemporary occupational therapy curriculum-as-discourse, are reproduced and maintained as truths at a university that historically supported apartheid in South Africa. Methodology: A Foucauldian Discourse Analysis (FDA) approach was used to systematically craft a genealogy analysis method from foundational Foucauldian theory. Adjacent, a lens of the ‘dimensions of the curriculum’ was employed: i.e., the formal, the informal, the hidden, and the negated curriculum. Various data sources were categorized accordingly, e.g., overarching policy documents; social events; timetables and prescribed texts; physical teaching spaces; espoused values, and underlying assumptions modelled during assessment in teaching and learning spaces. Results: Following the four rules of knowledge-formation that ensued from an archaeology analysis, the contemporary reification of the historical markers was problematised through various technologies of power and self, as well modes of reasoning. Examples are pervasive white demographics of both students and faculty reifying cognitive monopoly and mono-cultural epistemologies; the rationalization of highly ritualized (over)assessment of students suppressing adult-to-adult transactionalism in andragogy practices; the reproduction of mono-cultural epistemologies in clinical training operating in the hidden curriculum. Final considerations: Consciously dismantling the rationalising strategies for the continuation of discriminatory patterns of inclusion and exclusion in a curriculum, can open a space for critical dialogue, disruption, and reconfiguration of a curriculum-as-discourse towards social justice, and epistemic freedom in (higher) education.

Molecular Pathology of Myotonic Dystrophy Type 1 in Iceland.

Myotonic Dystrophy type 1 (DM1) is an autosomal dominant disease with anticipation due to increased number of CTG repeats in the DMPK gene. This retrospective, cohort study in Iceland assessed prevalence of DM1, molecular pathology, and patient ascertainment. Data was collected from all major hospitals in Iceland, Medical Director of Health, and independent clinics. Cohort criteria were diagnosis of DM1 on January 1, 2021, or time of death. Population-based Icelandic Genealogy Database of the Genetical Committee at the University of Iceland was used for genealogy. In Iceland, 221 individuals, including 19 obligate carriers, had been diagnosed with DM1 of which 144 were alive giving a point prevalence of 39 per 100,000 (four times the world average of 9.3). Genealogy analysis identified 45 first-degree families. Age-adjusted prevalence ranged between 11 and 66 per 100,000. Average potential years of life lost were 20.5 per person. Where information was available, 63% of ascertainment was based on family history in cascade testing. The differences in age-adjusted prevalence suggest that the overall point prevalence is an underestimation due to underdiagnosis in younger age groups and lethality in oldest age group. Our data supports use of cascade testing to improve DM1 ascertainment.

Genealogy as an Ethic of Self-determination: Husserl and Foucault

The way in which Foucault confronts Husserl helps to highlight the instance that drives Foucauldian research and its current legacy. Foucault inscribes his work through Husserl within a broader tradition, namely, that of the critical thinking that has crossed all of modernity from the Renaissance to the Enlightenment and up to phenomenology. His main legacy can be identified precisely in the way he relaunches and radicalises this tradition by intensifying its critical gaze. We will follow the steps of The Crisis of European Sciences to evoke the underlying purposes of Husserl's work, showing how his genealogical analysis of scientific knowledge, as a mix of historically determined practices, is guided by the ethical aim of self-determination. Later we will show how Foucault takes up this instance in a completely original way, and we will analyse which analogies and differences can be traced between the two authors’ approaches to the problem of an individual's self-determination in his relationship with the network of knowledge-power in which he is immersed. In fact, both authors consider that there can be no emancipation and self-determination of the individual without a preliminary historical-critical retrospective on knowledge and on the ways in which its contents have been constituted. But this retrospective, which we could define generically as genealogical (genetic-phenomenological in Husserl's terms), is played out differently by the two authors and implemented by Foucault with a greater degree of radicalism.

Critical approaches to geoeconomics: Taiwan’s position/ing in the global chip war

This essay argues that a meshing of the genealogical analysis proposed by critical geoeconomics with the critical (geo)political economy approach is well-equipped to expound on the proliferation of geostrategic thinking and practices in the contemporary era marked by the ‘great power rivalry’ or the ‘new Cold War’. To elaborate on this proposition, I examine the rise of global strategic-technologic competition centring on semiconductor production and Taiwan’s position and positioning in such dynamics.

Historicizing Secular Subjectivities: Conceptual Erasures and Subjective Multi-Hybridizations

The “multiple secularities” framework may be regarded as a recent ambitious contribution to the comparative analysis of secularisms across Western and non-Western societies. While I argue in this article for the “historicization” of secularities as proposed by the framework, I also point out the latter’s lack of empirical attention to the subjective dimension of historical secularities. More specifically, the article attempts to show the theoretical relevance of analyzing historical secularities in post-colonial societies from the perspective of the subjects and their complex selves. Through a genealogical analysis of the subjectivities of three influential positivist intellectuals in 19th-century Mexico, I argue that the analytical axes of the multiple secularities framework may be refined and broadened. I discuss how the framework’s search for local forms of “conceptual distinctions” should be complemented by the search for conceptual erasures and how the analysis of “semantic hybridity” should be broadened and include the analysis of experiential and emotional forms of hybridizations. I also argue that the analyses of historical secularities should account for “sacred-secular” hybrids, as well as more specific hybridizations, such as ecclesiological–secular and theological–secular transpositions.

Who’s Afraid of the Big Bad Wolf? How corporations maintain hegemony by using counterinsurgency tactics to undermine activism

This article contributes to critical theory building in relation to political corporate social responsibility (PCSR) by conceptualizing the underlying processes and practices through which corporations seek to counter threats posed by activist groups. We argue that the problematic nature of PCSR is entangled not only in its state-like aims, but also in its covert deployment of military tactics towards the maintenance of corporate hegemony. We illuminate how corporations use counterinsurgency tactics to undermine the ability of activists to hold them accountable for their wrongdoing. Building on the work of Gramsci, we propose that counterinsurgency tactics combine elements of force and persuasion that enable corporations to maintain hegemony (i.e., secure consent over time). We ask: How are counterinsurgency tactics used by corporations to neutralize activist pressures and maintain corporate hegemony? We draw upon historical sources regarding the Nestlé infant milk boycott case to undertake a genealogical analysis that exposes counterinsurgency tactics enabling corporations to counter activists and sustain their hegemony. We find that Nestlé deployed four key counterinsurgency tactics to nullify activist pressures (suppressing external support, isolating the activist(s), capturing the dialogue, and covert intelligence gathering). From our analysis, we propose the term corporate counterinsurgency and theorize the historic use of corporate counterinsurgency tactics as an example of a hegemonic strategy that enables corporations to covertly undermine activist pressures. We conclude by calling for further reflexivity in organizational studies research on the military origins of PCSR, and by outlining how activist organizations might mobilize against corporate counterinsurgency tactics.

Genetic study of a rare Chinese pedigree with a recombination occurring between the HLA-A/C loci in both parents

To analyze a Chinese pedigree with a recombination occurring between the HLA-A/C loci in both parents. A patient who was planning to undergo hematopoietic stem cell transplantation due to "aplastic anemia" in February 2022 was selected as the study subject. Peripheral blood samples were collected from the patient, his parents and brother. HLA-A/C/B/DRB1/DQB1 high-resolution typing was carried out by using sequence-based typing and sequence-specific oligonucleotides. The recombination was identified by pedigree analysis. The HLA haplotype of each individual was identified by genealogical analysis. The parentage possibility was determined by short tandem repeat analysis. HLA-A/C/B/DRB1/DRB345/DQA1/DQB1/DPA1/DPB1 were determined with next-generation high-throughput sequence-based typing. The recombination sites were analyzed by family study. The high parentage possibilities of the family was confirmed by short tandem repeat analysis. Recombination was found between the HLA-A*24:02 A*33:03/C*14:03 in the paternally transmitted haplotype, whilst HLA-A*01:01 A*03:01/C*08:02 was found in the maternally transmitted haplotype, which had resulted in two novel HLA haplotypes in the proband. A rare case with simultaneous recombination of the paternal and maternal HLA-A/C loci has been discovered, which may facilitate further study of the mechanisms of the HLA recombination.

Pythium banihashemianum sp. nov. and Globisporangium izadpanahii sp. nov.: Two New Oomycete Species from Rice Paddies in Iran.

An investigation into oomycete diversity in rice paddies of Fars Province in Iran led to the identification of two new Pythium sensu lato (s.l.) species as Globisporangium izadpanahii sp. nov. and Pythium banihashemianum sp. nov. The identification was based on morphological and physiological features as well as on the phylogenetic analysis of nuclear (ITS and βtub) and mitochondrial (cox1 and cox2) loci using Bayesian inference and Maximum Likelihood. The present paper formally describes these two new species and defines their phylogenetic relationships with other congeneric species. According to multiple gene genealogy analysis, G. izadpanahii sp. nov. was grouped with other species of Globisporangium (formerly, clade G of Pythium s.l.) and was closely related to both G. nagaii and the recently described G. coniferarum. The second species, designated P. banihashemianum sp. nov., was grouped with other species of Pythium sensu stricto (formerly, clade B of Pythium s.l.) and, according to the phylogenetic analysis, shared an ancestor with P. plurisporium. The production of globose hyphal swellings was a major characteristic of G. izadpanahii sp. nov., which did not produce vesicles and zoospores. In pathogenicity tests on rice seedlings, P. banihashemianum sp. nov. isolates were highly pathogenic and caused severe root and crown rot, while G. izadpanahii sp. nov. isolates were not pathogenic.

Genomic Diversity of the Retinta Breed Derived from Two Ancestral Bovine Lineages.

The Retinta breed, an autochthonous type of Spanish beef cattle, is highly adapted to breeding in its natural environment, which is characterized by a Mediterranean climate. The origins of this breed can be traced to two ancestral bovine stocks, which gave rise to distinct morphotypes differentiated primarily by coat color, alongside other significant traits such as growth, morphological conformation and temperament. Specifically, one morphotype comprises blond animals (Rubia Andaluza), genetically resembling the ancestral Bos taurus Aquitanicus, while the other encompasses brown- and red-colored animals (Retinta Extremeña) originating from Bos taurus Turdenatus stock. Over decades, these populations have undergone hybridization, leading to a unified population, albeit with the original subpopulations largely maintaining their genetic integrity. The objective of this study was to undertake genealogical and genomic characterization of these genetic lines, including a particular subpopulation within the blond animals (Tamarona cow). To achieve this, the genealogical records of 22,004 active animals were analyzed, and over 63,000 SNPs from a total of 1030 animals were examined for genomic characterization. Genealogical analysis revealed pedigree completeness and a high level of effective population size (Ne) across the entire population, yet relatively low Ne values within each pure line (ranging from 28.38 to 34.47). These findings underscore the ongoing efforts of the National Association of Retinta Breeders (ACRE) over the past decades to mitigate the loss of variability in this breed. The genomic characterization highlights the persistent differences within the original population and the predominant influence of the Retinto line within the current breed, as evidenced by principal component analysis (PCA) and admixture analysis. Furthermore, the identification of the Tamarona subpopulation within the blond lineage underlines its unique genetic composition, warranting its recognition as an official genetic line within the current Retinta breed. Given the small population size of these lines, particularly the Tamarona subpopulation, protective measures are imperative to preserve this distinct gene pool. Such measures would enhance the genetic diversity of the Retinta breed, which is essential for sustainable breeding practices in its natural habitats.

#1471 The role of genealogy in patients with CKD in primary health care

Abstract Background and Aims Improving the risk prediction of adverse outcomes of chronic kidney disease at the level of primary care physicians, through early diagnosis of chronic kidney disease, can help reduce the progression of the disease, improve the clinical condition of patients and the prognosis of the disease, reduce the number of patients with terminal stage, reduce disability rates and reduce lethality. The aim of our study is to explore the role of genealogical analysis in patients with CKD at the primary care level. Method In primary healthcare settings, 217 patients with CKD were under observation, with an average age of 46.17±0.63 years, predominantly of Uzbek nationality. A control group of 20 healthy people of Uzbek nationality of the same age without signs of CKD. After compiling the legend of 217 families, a pedigree was compiled and a genealogical analysis was carried out. In order to identify the severity of CKD, the data obtained were compared with the results of an analysis of pedigrees of individuals (n=20) in a healthy population. Using the genealogical method, 893 first-degree relatives (parents, siblings) of patients with CKD were examined for the presence of renal pathology. A detailed pedigree was compiled, which included information about diseases in 2-3 generations of the family. Genetic material was collected from both parental lines by cross-questioning both parents, and sometimes grandparents. A total of 1761 people were analyzed in the model population. Results The data obtained were compared with the generalized family response of 20 practically healthy people, in the model population of which 172 people were analyzed, of which the incidence of renal pathology was 2.13%. A comparative analysis of a generalized family portrait of patients with CKD with a generalized family portrait of a population of practically healthy people revealed a more frequent incidence of renal pathology in relatives with CKD (11.07%%). In families of probands, renal pathology in generations in relation to the total number of patients of each concentration is III - 7.49%; II - 11.06%; I- 17.43%. The burden in the population of practically healthy people was observed significantly less: III - 0%; II- 0.15%; I- 0%. It turned out that renal pathology more often affects first-degree relatives (130 (14.56%), which in relation to the total number of patients in this concentration is 7.38%. Hereditary burden of renal pathology was observed more often on the father's side in 46 (10.60±0.34%) than on the mother's side in 19 (4.38±0.34%). Conclusion The results of our study indicate a significant prevalence of CKD in families of probands, but with a predominance of first-degree relatives being affected. Pedigree analysis confirms the absence of a monogenically inherited disease, such as simple recessive or dominant inheritance. Along with this, the widespread prevalence of renal pathology in the population suggests that only a predisposition to the development of CKD is inherited. Thus, according to our data, it is necessary to recommend the study of genealogical analysis of patients at the level of primary healthcare. Moreover, this is more accessible in primary health care with family doctors.

Presentation of Rare Phenotypes Associated with the FKBP10 Gene.

Pathogenic variants in the FKBP10 gene lead to a spectrum of rare autosomal recessive phenotypes, including osteogenesis imperfecta (OI) Type XI, Bruck syndrome Type I (BS I), and the congenital arthrogryposis-like phenotype (AG), each with variable clinical manifestations that are crucial for diagnosis. This study analyzed the clinical-genetic characteristics of patients with these conditions, focusing on both known and newly identified FKBP10 variants. We examined data from 15 patients, presenting symptoms of OI and joint contractures. Diagnostic methods included genealogical analysis, clinical assessments, radiography, whole exome sequencing, and direct automated Sanger sequencing. We diagnosed 15 patients with phenotypes due to biallelic FKBP10 variants-4 with OI Type XI, 10 with BS I, and 1 with the AG-like phenotype-demonstrating polymorphism in disease severity. Ten pathogenic FKBP10 variants were identified, including three novel ones, c.1373C>T (p.Pro458Leu), c.21del (p.Pro7fs), and c.831_832insCG (p.Gly278Argfs), and a recurrent variant, c.831dup (p.Gly278Argfs). Variant c.1490G>A (p.Trp497Ter) was found in two unrelated patients, causing OI XI in one and BS I in the other. Additionally, two unrelated patients with BS I and epidermolysis bullosa shared identical homozygous FKBP10 and KRT14 variants. This observation illustrates the diversity of FKBP10-related pathology and the importance of considering the full spectrum of phenotypes in clinical diagnostics.

Power relations in the novel My Name is Alam by Leila S. Chudori

Exploring discursive formations in literary works allows researchers to analyze how language and discourse shape meaning, power dynamics, and cultural ideologies within a specific literary context. Understanding the discursive formations in literary works is crucial for comprehending the historical and social context in which these works were produced. This research aims to describe the forms and representations of power relations in the novel My Name is Alam by Leila S. Chudori. This is qualitative descriptive research where the data is interpreted using the genealogical and archaeological analysis methods promoted by Foucault. This method aims to uncover and understand hidden power dynamics in various aspects of human life. The research results prove that the author's statements were spread across various formations and became material for discussion. Two forms of power relations are being discussed; the first is the New Order government's practice of authoritarian power in its various policies, which limits human rights. Second, there is resistance from marginalized groups, namely political prisoners and their families. This form of resistance is an effort by marginalized groups to fight for equality and justice. The New Order government in Indonesia constructed a discourse to create a simulated space to legitimize its power within national memory politics. This simulated world is a blend of reality and fantasy constantly reproduced. As a result, the actual reality becomes obscured, and the symbols created are perceived as reality.