Search

Background: Efficient and scalable solutions are needed to identify patients who qualify for germline cancer genetic testing. We evaluated the clinical validity of a brief, patient-administered hereditary cancer risk assessment digital tool programmed to assess if patients meet criteria for germline genetic testing, based on personal and family history, and in line with national guidelines. Methods: We applied the tool to cases seen in a nationwide telehealth genetic counseling practice. Validity of the tool was evaluated by comparing the tool's assessment to that of the genetic counselor who saw the patient. Patients' histories were extracted from genetic counselor-collected pedigrees and input into the tool by the research team to model how a patient would complete the tool. We also validated the tool's assessment of which specific aspects of the personal and family history met criteria for genetic testing. Descriptive statistics were used. Results: Of the 152 cases (80% female, mean age 52.3), 56% had a personal history of cancer and 66% met genetic testing criteria. The tool and genetic counselor agreed in 96% of cases. Most disagreements (4/6; 67%) occurred because the genetic counselor's assessment relied on details the tool was not programmed to collect since patients typically don't have access to the relevant information (pathology details, risk models). We also found complete agreement between the tool and research team on which specific aspects of the patient's history met criteria for genetic testing. Conclusion: We observed a high level of agreement with genetic counselor assessments, affirming the tool's clinical validity in identifying individuals for hereditary cancer predisposition testing and its potential for increasing access to hereditary cancer risk assessment. [ABSTRACT FROM AUTHOR]

Background: Despite recognition of the importance of genetic factors in the pathogenesis of MND and the increasing availability of genetic testing, testing practice remains highly variable. With the arrival of gene-targeted therapies there is a growing need to promptly identify actionable genetic results and patient death before receipt of results raises ethical dilemmas and limits access to novel therapies. Objective: To identify pathogenic mutations within a London tertiary MND center and their correlation with family history. To record waiting times for genetic results and deaths prior to receipt of results. Methods: In this series of 100 cases, genetic testing was offered to all patients with an MND diagnosis from the tertiary clinic. Data on demographics, disease progression and a detailed family history were taken. Time to receipt of genetic results and patient deaths prior to this were recorded. Results: Of the 97 patients who accepted testing a genetic cause was identified in 10%, including seven C9orf72 and two positive SOD1 cases. Only three patients with positive genetic findings had a family history of MND, although alternative neurological diagnoses and symptoms in the family were frequently reported. 14% of patients who underwent testing were deceased by the time results were received, including one actionable SOD1 case. Conclusions: Genetic testing should be made available to all patients who receive an MND diagnosis as family history alone is inadequate to identify potential familial cases. Time to receipt of results remains a significant issue due to the limited life expectancy following diagnosis. [ABSTRACT FROM AUTHOR]

The status of single women in the eighteenth century was precarious; homelessness and economic dependence plagued the lives of those who chose not to marry. This was the case, at least, for Mary and Charlotte Winn, the unmarried sisters of the 5th Baronet of Nostell Priory. Like many single women, the Winn sisters' archive is sparse. But such a sparseness can be utilised and, in this instance, provides the opportunity for creative methods of recovering women's voices. By exploring the materiality of Mary's and Charlotte's letters, this article demonstrates how these sisters negotiated their distance from the family home through the space they occupied on the page. Paradoxically, moreover, it is this distance that has ensured the survival of their papers. As such, the article concludes by considering the epistolary afterlives of the Winn sisters' letters and addresses how their manuscript legacy has posthumously afforded them a place in the family's history. In effect, paper ties to landed estates, though fragile, remain exactly that – ties. [ABSTRACT FROM AUTHOR]

Background: Facioscapulohumeral dystrophy (FSHD) is a myopathy characterized by the loss of repressive epigenetic features affecting the D4Z4 locus (4q35). The assessment of DNA methylation at two regions (DUX4-PAS and DR1) of D4Z4 locus proved to be an effective method to detect epigenetic signatures compatible with FSHD. The present study aims at validating the employment of this method into clinical practice and improving the protocol by refining the classification thresholds of 4qA/4qA patients. To this purpose, 218 subjects with clinical suspicion of FSHD collected in 2022–2023 were analyzed. Each participant underwent in parallel the traditional FSHD molecular testing (D4Z4 sizing) and the proposed methylation assay. The results provided by both analyses were compared to evaluate the concordance and calculate the performance metrics of the methylation test. Results: Among the 218 subjects, the 4q variant type distribution was 54% 4qA/4qA, 43% 4qA/4qB and 3% 4qB/4qB. The methylation analysis was performed only on carriers of at least one 4qA allele. After refining the classification threshold, the test reached the following performance metrics: sensitivity = 0.90, specificity = 1.00 and accuracy = 0.93. These results confirmed the effectiveness of the methylation assay in identifying patients with genetic signature compatible with FSHD1 and FSHD2 based on their DUX4-PAS and DR1 profile, respectively. The methylation data were also evaluated with respect to the clinical information. Conclusions: The study confirmed the ability of the method to accurately identify methylation profiles compatible with FSHD genetic signatures considering the 4q genotype. Moreover, the test allows the detection of hypomethylated profiles in asymptomatic patients, suggesting its potential application in identifying preclinical conditions in patients with positive family history and FSHD genetic signatures. Furthermore, the present work emphasizes the importance of interpreting methylation profiles considering the patients' clinical data. [ABSTRACT FROM AUTHOR]

Idiopathic osteoporosis (IOP) is a rare form of early-onset osteoporosis diagnosed in patients with no known metabolic or hormonal cause of bone loss and unknown pathogenesis. Patients with IOP commonly report both childhood fractures and family history of osteoporosis, raising the possibility of genetic etiologies of IOP. Whole-exome sequencing analyses of different IOP cohorts identified multiple variants in melatonin receptor 1A (MTNR1A) with a potential pathogenic outcome. A rare MTNR1A variant (rs374152717) was found in members of an Ashkenazi Jewish family with IOP, and an MTNR1A variant (rs28383653) was found in a nonrelated female IOP cohort (4%). Both variants occur at a substantially higher frequency in Ashkenazi Jewish individuals than in the general population. We investigated consequences of the heterozygous (rs374152717) variant [MTNR1Ac.184+1G>T (MTNR1Ac.184+1G>T)] on bone physiology. A mouse model of the human rs374152717 variant reproduced the low bone mass (BM) phenotype of young-adult patients with IOP. Low BM occurred because of induction of senescence in mutant osteoblasts followed by compromised differentiation and function. In human cells, introduction of rs374152717 led to translation of a nonfunctional protein and subsequent dysregulation of melatonin signaling. These studies provide evidence that MTNR1A mutations entail a genetic etiology of IOP and establish the rs374152717 variant as a loss-of-function allele that impairs bone turnover by inducing senescence in osteoblasts. The higher prevalence of the MTNR1A variants identified in IOP cohorts versus the general population indicates a greater risk of IOP in those carrying these variants, especially Ashkenazi Jewish individuals bearing the rs374152717 variant. Editor's summary: Osteoporosis with no known cause (idiopathic osteoporosis, or IOP) results in weak bones and fractures in otherwise healthy individuals younger than 50 years of age. Bisikirska et al. identified rare genetic variants in the melatonin receptor 1A (MTNR1A) gene enriched in cohorts of individuals with IOP. Heterozygosity of one particular loss-of-function variant in mice reproduced many of the patients' symptoms. This study provides evidence of a genetic component in IOP and may have downstream consequences for genetic screening as well as for the longstanding advocation for the use of melatonin in this setting. —Catherine Charneski [ABSTRACT FROM AUTHOR]

Familial nonautoimmune hyperthyroidism (NAH) is a rare type of autosomal dominant hyperthyroidism caused by constitutively active pathogenic variants of the thyrotropin receptor (TSHR) gene. Although affected family members present with varied levels of hyperthyroid features, even when the same pathogenic variant is present, total thyroidectomy followed by radioiodine therapy is recommended for long-term management. Herein, we present the case of an 18-year-old proband and her family members with NAH (TSHR-I640V), who presented with diverse thyroid dysfunctions: fluctuations between euthyroid and subclinical hyperthyroidism, mild hyperthyroidism, and overt hyperthyroidism. Almost all affected adult family members, except the proband, showed no progression of hyperthyroidism or thyroid enlargement. A family history of thyrotropin receptor antibodies (TRAb)-negative hyperthyroidism is important for the identification of NAH in adults before TSHR genetic testing can be performed. Ablative therapy is not necessary when familial NAH presents with late-onset mild hyperthyroidism without coexisting diseases. [ABSTRACT FROM AUTHOR]

Background: Atopic dermatitis (AD) is a chronic inflammatory skin condition characterized by intense itching and various clinical manifestations. It predominantly affects young children and is linked to elevated levels of IgE. Despite extensive research, the exact etiology remains unclear, though genetic and environmental factors are believed to play significant roles. Methods: This descriptive study was conducted at Nalanda Medical College and Hospital, Patna, over an 18-month period from December 2019 to May 2021. A total of 83 patients up to 16 years old, diagnosed with AD according to Hanifin and Rajka's criteria, were included. Ethical clearance was obtained, and informed consent was secured from guardians. Patients were assessed for demographic characteristics, clinical features, and aggravating factors using structured case record forms. Data analysis focused on age distribution, duration of AD, aggravating factors, personal and family history, and clinical features. Results: The study involved 83 patients with a mean age of 2-12 years. The mean duration of AD was 1.24 years. The condition often aggravated in winter. Key aggravating factors included photo aggravation (24.1%) and mosquito/mite exposure (15.7%). A significant proportion of patients experienced pruritus (91.6%) and lesions on extensors (65.1%). Family history of atopy was uncommon, with 71.1% having no family history. Facial erythema was present in 33.7% of patients, and 21.7% had scalp scaling. Conclusion: This study highlights the diverse clinical manifestations and demographic characteristics of AD in a specific population. The findings reveal a predominance of younger patients, common involvement of extensor surfaces, and frequent pruritus. Seasonal aggravation, particularly in winter, and specific aggravating factors like photo exposure and mosquito bites were noted. The lack of significant family history suggests a need for further research into the genetic and environmental interplay in AD. These insights underscore the importance of personalized management strategies for effective treatment. [ABSTRACT FROM AUTHOR]

A hereditary component of breast (BC) and colorectal cancer (CRC) has been described in approximately one-third of these tumor types. BC patients have an increased risk of developing CRC as a second primary tumor and vice versa. Germline genomic variants (NextSeq550, Illumina) were investigated in 24 unrelated BC and/or CRC patients and 7 relatives from 3 index patients. Fifty-six pathogenic or likely pathogenic variants were identified in 19 of 24 patients. We detected single-nucleotide variants (SNVs) in CRC predisposition genes (MLH1 and MUTYH) and other promising candidates (CDK5RAP3, MAD1L1, NOS3, and POLM). Eighteen patients presented SNVs or copy number variants (CNVs) in DNA damage repair genes. We also identified SNVs recently associated with BC or CRC predisposition (PABPC1, TYRO3, MAP3K1, SLC15A4, and LAMA1). The PABPC1c.1255C>T variant was detected in nine unrelated patients. Each patient presented at least one SNV/CNV in a candidate gene, and most had alterations in more than one gene, reinforcing a polygenic model for BC/CRC predisposition. A significant fraction of BC/CRC patients with a family history of these tumors harbored deleterious germline variants in DNA repair genes. Our findings can lead to strategies to improve the diagnosis, genetic counseling, and treatment of patients and their relatives. [ABSTRACT FROM AUTHOR]

Efforts to implement and evaluate genome sequencing (GS) as a screening tool for newborns and infants are expanding worldwide. The first iteration of the BabySeq Project (2015–2019), a randomized controlled trial of newborn sequencing, produced novel evidence on medical, behavioral, and economic outcomes. The second iteration of BabySeq, which began participant recruitment in January 2023, examines GS outcomes in a larger, more diverse cohort of more than 500 infants up to one year of age recruited from pediatric clinics at several sites across the United States. The trial aims for families who self-identify as Black/African American or Hispanic/Latino to make up more than 50% of final enrollment, and key aspects of the trial design were co-developed with a community advisory board. All enrolled families receive genetic counseling and a family history report. Half of enrolled infants are randomized to receive GS with comprehensive interpretation of pathogenic and likely pathogenic variants in more than 4,300 genes associated with childhood-onset and actionable adult-onset conditions, as well as larger-scale chromosomal copy number variants classified as pathogenic or likely pathogenic. GS result reports include variants associated with disease (Mendelian disease risks) and carrier status of autosomal-recessive and X-linked disorders. Investigators evaluate the utility and impacts of implementing a GS screening program in a diverse cohort of infants using medical record review and longitudinal parent surveys. In this perspective, we describe the rationale for the second iteration of the BabySeq Project, the outcomes being assessed, and the key decisions collaboratively made by the study team and community advisory board. [Display omitted] This perspective describes the design of the second iteration of the BabySeq Project, a randomized controlled trial of genome sequencing early in life that is generating evidence on medical, psychosocial, and economic outcomes in the United States. [ABSTRACT FROM AUTHOR]

Background: Esophageal neoplasms rank as the 7th most common cancers in the world. Squamous cell carcinomas of esophagus (SCCE) are the predominant subset, linked to a number of genetic alterations. Gene-driven tumour pathways are being increasingly identified with the emerging role of next-generation sequencing. Case presentation: We report a case of an 82-year-old male patient who was diagnosed with SCCE involving the cervical region. He received definitive concurrent chemo-radiotherapy with Carboplatin and Paclitaxel. To trace the family history of malignancy, a genetic test was carried out which turned out to be a pathogenic BRCA1 variant. Conclusion: SCCE arising in the context of known BRCA1 mutation has been rarely reported to date. Testing for these mutations should be considered in patients who present with esophageal cancer, especially in the backdrop of familial neoplasms. [ABSTRACT FROM AUTHOR]

Background: Pancreatic ductal adenocarcinoma (PDAC) surveillance is recommended for some individuals with a pathogenic or likely pathogenic variant (PV/LPV) in a PDAC susceptibility gene; the recommendation is often dependent on family history of PDAC. This study aimed to describe PDAC family history in individuals with PDAC who underwent genetic testing to determine the appropriateness of including a family history requirement in these recommendations. Methods: Individuals with PDAC with a germline heterozygous PV/LPV in ATM, BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PALB2, or PMS2 (PV/LPV carriers) were assessed for family history of PDAC in first‐degree relatives (FDRs) or second‐degree relatives (SDRs) from nine institutions. A control group of individuals with PDAC without a germline PV/LPV was also assessed. Results: The study included 196 PV/LPV carriers and 1184 controls. In the PV/LPV carriers, 25.5% had an affected FDR and/or SDR compared to 16.9% in the control group (p =.004). PV/LPV carriers were more likely to have an affected FDR compared to the controls (p =.003) but there was no statistical difference when assessing only affected SDRs (p =.344). Conclusions: Most PV/LPV carriers who developed PDAC did not have a close family history of PDAC and would not have met most current professional societies' recommendations for consideration of PDAC surveillance before diagnosis. However, PV/LPV carriers were significantly more likely to have a family history of PDAC, particularly an affected FDR. These findings support family history as a risk modifier in PV/LPV carriers, and highlight the need to identify other risk factors. Results from this multicenter study show that individuals with pancreatic cancer and a germline pathogenic variant in ATM, BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PALB2, or PMS2 are more likely to have a family history of pancreatic cancer, especially a first‐degree relative, compared to individuals with pancreatic cancer and no germline pathogenic variant. However, most individuals diagnosed with pancreatic cancer who have a germline pathogenic variant in one of these genes would not have met current guidelines for pancreatic surveillance because of a lack of family history. [ABSTRACT FROM AUTHOR]

AbstractObjectiveMethodsResultsConclusionThe most common genetic cause of amyotrophic lateral sclerosis (ALS) is the C9orf72 expansion. A high incidence of this expansion has been detected in Sweden and Finland. This Norwegian population-based study aimed to identify the prevalence, geographic distribution, ancestry, and relatedness of ALS patients with a C9orf72 expansion (C9pos). Further, we compared C9pos and C9neg patients’ clinical presentation, family history of ALS and other neurodegenerative disorders, and sociodemographic status.We recruited ALS patients from all 17 Departments of neurology in Norway. Blood samples and questionnaires regarding clinical characteristics, sociodemographic status and family history of ALS, and other neurodegenerative disorders were collected. The C9orf72 expansion was examined for all patients.The study enrolled 500 ALS patients, 8.8% of whom were C9pos, with half being sporadic ALS cases. The proportion of C9pos cases differed between regions, ranging from 17.9% in the Northern region to 1.9% in the Western region. The majority of C9pos patients had non-Finnish European descent and were not closely related. C9pos patients exhibited a significantly shorter mean survival time, had a higher frequency of relatives with ALS or dementia, and were more often unmarried/single and childless than C9neg patients.C9pos patients constitute a large portion of the Norwegian ALS population. Ancestry and relatedness do not adequately explain regional differences. Relying on clinical information to identify C9pos patients has proven to be challenging. Half of C9pos patients were reported as having sporadic ALS, underlining the importance of carefully assessing family history and the need for genetic testing. [ABSTRACT FROM AUTHOR]

Paragangliomas are rare tumors originating from the paraventricular bodies of the autonomic nervous system located in the adrenal glands, chest, abdomen, pelvis and head and neck. Tumors of this type account for 0.5% of head and neck cancers, 0.03% of all cancers and their incidence is estimated at 1–30/100,000 per year. Head and Neck Paragangliomas (HNPGL) are localized in carotid body, tympanic cavity or jugular foramen. It is established that HNPGL may be associated with mutations of the SDH complex, with SDHD being the most prevalent. However, SDHB, SDHC and SDHAF are also potential causes. The aforementioned mutations are influenced by various risk factors, including young age, a positive family history of paraganglioma, the presence of metastases and gender The purpose of this study is to summarize the results of genetic testing performed on patients with head and neck paraganglioma and to create an up-to-date genetic diagnosis algorithm for patients with HNPGL based on previous studies published in the literature that can be used in daily practice. Several papers observed that among SDHD mutation carriers, most or all of those studied had HNPGL, and SDHB mutations were more frequently found in the presence of metastasis. Based on the results, it was concluded that there is no basis for genetic testing for VHL in patients without a positive family history. In each algorithm proposed by different authors, proposals for rational genetic diagnosis were analyzed based on the studies cited by the author and the analyses included in our paper. For the analysis of the treatment algorithms, the following were included: Martin, Mannelli, Neumann, Gupta. Subsequently, publications related to the genetic diagnosis of HNPGL were analyzed to verify the proposed algorithms in light of the latest genetic studies and to establish an updated diagnostic management scheme. [ABSTRACT FROM AUTHOR]

The article in "Dialogue: A Journal of Mormon Thought" recounts the journey of Lester Bush, a medical student turned researcher, as seen through the eyes of his wife, Yvonne. It details Lester's dedication to researching the history of race and the priesthood within the Mormon Church, his interactions with Church leaders, and his efforts to effect change from within the system. Despite facing challenges and setbacks, Lester's work was eventually acknowledged and celebrated by Church leaders, bringing him a sense of fulfillment and purpose. Yvonne's reflections offer a poignant and insightful perspective on Lester's lifelong dedication to truth and understanding. [Extracted from the article]

Introduction: Calcium channel gene variations have been reported to be associated with hypertrophic cardiomyopathy (HCM) in family, but the relationship between calcium channel gene variations and HCM remains undefined in the population. Methods: A total of 719 HCM unrelated patients were initially enrolled. Finally, 371 patients were identified based on inclusion and exclusion criteria, including 145 patients with gene negative, 28 patients with a single rare calcium channel gene variation (calcium gene variation), 162 patients with a single pathogenic/likely pathogenic sarcomere gene variation (sarcomere gene variation) and 36 patients with a single pathogenic/likely pathogenic sarcomere gene variation and a single rare calcium channel gene variation (double gene variations). Then the demographic, electrocardiographic, echocardiographic, and follow-up data were collected. Results: Patients with double gene variations were at an earlier age and had more percent of family history of HCM, and had thicker walls, higher left ventricular outflow tract pressure gradient, more pathological Q waves, and more bundle branch blocks as compared with those with single sarcomere gene variation. During the follow-up period, patients with double gene variations had more primary endpoints than the other three groups (p = 0.0013). Multivariate analysis showed that double gene variations were the independent predictor of primary endpoint events in patients (HR: 4.82, 95% CI: 1.77–13.2; p = 0.002). Conclusion: We found that patients with double gene variations had more severe HCM phenotype and prognosis. The pathogenesis effects of sarcomere gene variation and calcium channel gene variation may be cumulative in HCM populations. [ABSTRACT FROM AUTHOR]

This article examines genealogical ethics in the digital age. At a time when more resources for research are available digitally than ever previously, digital media also pose challenges for the large-scale dissemination of false or misleading information as well as the incautious presentation of more careful research that then might be misconstrued by some. This article first reviews the literature about the development of academic genealogy and professional ethical standards. It then provides a series of case studies, each of which examines particular situations in which ethical questions have arisen about the presentation of research findings. This article argues for a greater need among lay researchers to pursue careful research and for a greater need among commercial genealogical databases to foster that. It also argues for the need, grounded in the ethical respect for human dignity, to recognize the individuality and to respect the dignity of the life stories of those whom we study and about whom we write, which should undergird the research process and the presentation of findings. In a concluding section, this essay presents several suggestions that could be used by commercial genealogical companies and researchers to promote more careful investigation and to improve the presentation of findings in commercial databases, online trees, genealogical websites, and other genealogical works that do not routinely undergo peer review. [ABSTRACT FROM AUTHOR]

The article provides a guide for art teachers on engaging English learners through a visual arts culture fair. It identifies the needs and assets common to English learners in classrooms where English is spoken. Strategies to help English learners participate in the fair include making a word wall, asking students to connect their artmaking to family histories and cultural traditions, and choice-based arrangement for creating mini art projects such as drawings, collage, painting and posters.

As cousins, we discovered a treasure trove of family papers, revealing the intricate relationship between precarity and privilege of our family from Salonica navigating the post-Ottoman transition. Recognising the potential of family history to provide a more intimate and complex historiography, this article offers our initial study of these family papers. By highlighting the challenges posed by the scarcity of such documents in Middle Eastern studies, emphasising women’s roles in preserving family memory and focussing on the interplay between personal and political domains, we identify the preparation of a family tree as a gendered and socioeconomic project of preserving the past and shaping the present. By tracing our family's origins, including unsettling discoveries, we address matters of identity and memory before embarking on our analysis. By reconstructing the biographies of two generations, we characterise the family’s socioeconomic struggle to sustain their precarious privilege amid shifting frontiers and along their journey from Ottoman Salonica to Kemalist Turkey. Ultimately, this article underscores the significance of family history as a transnational, intergenerational, intersectional and social history that enriches our understanding of the post-Ottoman transition through the lives of ordinary (and some extraordinary) Ottomans. [ABSTRACT FROM AUTHOR]

Whirly transcription factors are unique to plants, playing pivotal roles in managing leaf senescence and DNA repair. While present in various species, their identification in Brassica napus L. (B. napus) and their differences during hybridization and polyploidy has been elusive. Addressing this, our study delves into the functional and evolutionary aspects of the Whirly gene family during the emergence of B. napus, applying bioinformatics and comparative genomics. We identified six Whirly genes in B. napus. In Brassica rapa L. (B. rapa), three Whirly genes were identified, while four were found in Brassica oleracea L. (B. oleracea). The results show that the identified Whirly genes not only have homology but also share the same chromosomal positions. Phylogenetic analysis indicates that Whirly genes in monocots and dicots exhibit high conservation. In the evolutionary process, the Whirly gene family in B. napus experienced events of intron/exon loss. Collinearity insights point to intense purifying selection post-duplication. Promoter regions housed diverse cis-acting elements linked to photoresponse, anaerobic initiation, and methyl jasmonate responsiveness. Notably, elements tied to abscisic acid signaling and meristem expression were prominent in diploid ancestors but subdued in tetraploid B. napus. Tissue-specific expression unveiled analogous patterns within subfamily genes. Subsequent qRT-PCR analysis spotlighted BnAWHY1b's potential significance in abiotic stress response, particularly drought. These findings can be used as theoretical foundations to understand the functions and effects of the Whirly gene family in B. napus, providing references for the molecular mechanism of gene evolution between this species and its diploid ancestors. [ABSTRACT FROM AUTHOR]

Estimates of the spectrum and frequency of pathogenic variants in Parkinson's disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has reached the clinical trial stage, a major obstacle in conducting these trials is that PD patients are largely unaware of their genetic status and, therefore, cannot be recruited. Expanding the number of investigated PD-related genes and including genes related to disorders with overlapping clinical features in large, well-phenotyped PD patient groups is a prerequisite for capturing the full variant spectrum underlying PD and for stratifying and prioritizing patients for gene-targeted clinical trials. The Rostock Parkinson's disease (ROPAD) study is an observational clinical study aiming to determine the frequency and spectrum of genetic variants contributing to PD in a large international cohort. We investigated variants in 50 genes with either an established relevance for PD or possible phenotypic overlap in a group of 12 580 PD patients from 16 countries [62.3% male; 92.0% White; 27.0% positive family history (FH+), median age at onset (AAO) 59 years] using a next-generation sequencing panel. Altogether, in 1864 (14.8%) ROPAD participants (58.1% male; 91.0% White, 35.5% FH+, median AAO 55 years), a PD-relevant genetic test (PDGT) was positive based on GBA1 risk variants (10.4%) or pathogenic/likely pathogenic variants in LRRK2 (2.9%), PRKN (0.9%), SNCA (0.2%) or PINK1 (0.1%) or a combination of two genetic findings in two genes (∼0.2%). Of note, the adjusted positive PDGT fraction, i.e. the fraction of positive PDGTs per country weighted by the fraction of the population of the world that they represent, was 14.5%. Positive PDGTs were identified in 19.9% of patients with an AAO ≤ 50 years, in 19.5% of patients with FH+ and in 26.9% with an AAO ≤ 50 years and FH+. In comparison to the idiopathic PD group (6846 patients with benign variants), the positive PDGT group had a significantly lower AAO (4 years, P = 9 × 10−34). The probability of a positive PDGT decreased by 3% with every additional AAO year (P = 1 × 10−35). Female patients were 22% more likely to have a positive PDGT (P = 3 × 10−4), and for individuals with FH+ this likelihood was 55% higher (P = 1 × 10−14). About 0.8% of the ROPAD participants had positive genetic testing findings in parkinsonism-, dystonia/dyskinesia- or dementia-related genes. In the emerging era of gene-targeted PD clinical trials, our finding that ∼15% of patients harbour potentially actionable genetic variants offers an important prospect to affected individuals and their families and underlines the need for genetic testing in PD patients. Thus, the insights from the ROPAD study allow for data-driven, differential genetic counselling across the spectrum of different AAOs and family histories and promote a possible policy change in the application of genetic testing as a routine part of patient evaluation and care in PD. [ABSTRACT FROM AUTHOR]

Background: Using the Clinical Audit Research and Evaluation of Motor Neuron Disease (CARE-MND) database and the Scottish Regenerative Neurology Tissue Bank, we aimed to outline the genetic epidemiology and phenotypes of an incident cohort of people with MND (pwMND) to gain a realistic impression of the genetic landscape and genotype–phenotype associations. Methods: Phenotypic markers were identified from the CARE-MND platform. Sequence analysis of 48 genes was undertaken. Variants were classified using a structured evidence-based approach. Samples were also tested for C9orf72 hexanucleotide expansions using repeat-prime PCR methodology. Results: 339 pwMND donated a DNA sample: 44 (13.0%) fulfilled criteria for having a pathogenic variant/repeat expansion, 53.5% of those with a family history of MND and 9.3% of those without. The majority (30 (8.8%)) had a pathogenic C9orf72 repeat expansion, including two with intermediate expansions. Having a C9orf72 expansion was associated with a significantly lower Edinburgh Cognitive and Behavioural ALS Screen ALS-Specific score (p = 0.0005). The known pathogenic SOD1 variant p.(Ile114Thr), frequently observed in the Scottish population, was detected in 9 (2.7%) of total cases but in 17.9% of familial cases. Rare variants were detected in FUS and NEK1. One individual carried both a C9orf72 expansion and SOD1 variant. Conclusions: Our results provide an accurate summary of MND demographics and genetic epidemiology. We recommend early genetic testing of people with cognitive impairment to ensure that C9orf72 carriers are given the best opportunity for informed treatment planning. Scotland is enriched for the SOD1 p.(Ile114Thr) variant and this has significant implications with regards to future genetically-targeted treatments. [ABSTRACT FROM AUTHOR]

Background: Type 2B von Willebrand disease (VWD) is a less common subtype and is difficult to diagnose. This case report and literature review highlights a rare neonatal onset of type 2B VWD initially misdiagnosed as neonatal alloimmune thrombocytopenia (NAIT). Methods: The neonate presented with severe thrombocytopenia and was unresponsive to NAIT treatments. Genetic testing was conducted because of the unclear family history of thrombocytopenia. Results: Next-generation sequencing revealed a p.Arg1306Trp von Willebrand factor variant, confirming type 2B VWD. Conclusions: This study underscores the critical role of genetic testing in diagnosing challenging cases of neonatal thrombocytopenia, irrespective of family history, and aims to elucidate the clinical manifestations and course of neonatal onset type 2B VWD [ABSTRACT FROM AUTHOR]

Anna Fickesdotter Bülow (1440s–1519), abbess of the Birgittine Vadstena Abbey in Sweden, was also the author of Chronicon Genealogicum (c. 1515), a genealogical narrative of aristocratic families in late medieval Sweden. Anna Fickesdotter's chronicle is one of the earliest examples of women writing genealogy in Sweden. It sheds light on the roles of women in the transmission and commemoration of family history, genealogy as a gendered imagination and practice, but also the scripting of self as a subjective voice and a woman remembering the past. The account is analysed as an expression of medieval memory culture, where genealogy as a gendered phenomenon had a fundamental impact on the mental, material, and social dimensions of memory. [ABSTRACT FROM AUTHOR]

Over recent decades, historians, communities, and museum professionals have worked to share and understand stories of Indigenous Australian military service. This article posits that ephemera from the Australian War Memorial's National Collection offer a tangible way to engage with personal stories and enrich the narrative(s) of Indigenous service in the Second World War. While many experiences were shared by the thousands of men and women who enlisted and served during the war, surviving ephemera and the related personal stories reveal the cultural, linguistic, and experiential diversity of the individuals who served. Using five case studies from the Australian War Memorial's National Collection, this article explores the link between ephemera and stories of service and suggests that sharing these links with a wider audience can serve to broaden understandings of Indigenous service and sacrifice. [ABSTRACT FROM AUTHOR]

This study examines the lives of marriage migrants, primarily coming from the Philippines to non-highly urbanised areas (i.e., "rural" areas) of South Korea. It looks at how these women negotiate gender norms and expectations in these multicultural families within the context of state-led multiculturalism. Semi-structured interviews with 20 Filipino marriage migrants were conducted from August to September 2023 in selected areas of Chungcheongnam-do (South Chungcheong Province) and Jeollabuk-do (North Jeolla Province). Based on the data gathered, it was found that these women have navigated gendered cultural expectations in the Korean household, thus reproducing gendered norms within the traditional Korean family and playing a significant role in keeping the family intact. However, there are also instances where these gendered expectations were subverted within these families. This study would like to interrogate whether these women are able to re-imagine a different kind of "womanhood" away from traditional family norms, thus challenging existing models of how marriage migrants are expected to perform in the context of what I call "performative multiculturalism" in ethnonationalist states such as South Korea and Japan. [ABSTRACT FROM AUTHOR]

In the preceding decades, rapid technological advancements and increasing democratisation of historical records have been coupled with scientific data from DNA testing, which has revolutionised the family history industry. Going beyond the traditional archives and databases, DNA profiles present nuanced confirmations, puzzles, and contradictions generated through this biological lens. Family history researchers seek iterative engagements with their familial pasts and, in the process, amplify their contemporary identities. This specialised group of historians illuminates their families' travels through the broader historical landscape, constructing micro-narratives using a broad range of investigative modalities. This article reports on the findings of a large international study (n = 1016) that investigated family history researchers' motivations for undertaking DNA testing, their experiences, and its impact on their perceptions of individual, national, and global identities using Berzonsky's socio-cultural model of identity construction (2003, 2011) as an analytic frame. Using a survey methodology, it was concluded that DNA testing can expand and disrupt long-held notions of identity and has the power to shift perceptions and understandings of the self while simultaneously providing a new era of opportunity to reconceptualise national and international affiliations. It suggests further investigative avenues to assess the potential of DNA testing, which may promote social cohesion, inclusiveness, and global citizenship. [ABSTRACT FROM AUTHOR]

Society expects history to be objective and factual. Collectively history is the memory of the nation, that group, the imagined community that believes that it has always been together. It could even be said that the nation is about forgetting; forgetting that the people who make up that community were not always together as they are now, or the forgetting of those hurdles and hindrances that create obstacles to cohesion and continuity. Memory is collaborative by nature, and provides a legacy to society, a response to its own mortality in the future. This paper proposes to examine the case of subjective recounting of the past through a family memory of war, the forgetting, the gaps created in narratives to enable cohesion and to fit in with publicly acceptable discourse. It ultimately attempts to answer the question as to why it might be important to re-examine such stories of an individual nature, in a wider scope of the nation, and links those seemingly antinomic periods of time of past, present, and future, which are not as exclusive as might be believed. This paper focuses upon a deserter ancestor, going against the grain of traditional narratives. Traditionally, soldiers are considered by definition of what is expected from them in the national narrative, as 'war heroes'. However, this paper examines the life of a military ancestor who, in reality, did not fit into that framework, and who deserted from the army (although never on the front line, thus avoiding being shot). Nevertheless, the multiple desertions (deserted five times in total, lost kit twice, was imprisoned, and was detained for desertion three times) only 'resurfaced' recently due to the availability of documentation and research carried out in archives. While the ancestor conformed socially to what was expected of him, the reality of his military files seems to reveal the contrary. Despite the high numbers of times that he did desert, he did also rejoin every time, and ended up spending 3 decades in the same military unit. Or, perhaps the manner in which society views soldiers pre- and post-WWI has been altered, and, as such, desertion was not once what it has become. Forgetting has been the norm in society regarding certain pasts that step outside of the national narrative, rather than remembering. This paper attempts to imagine the nation's past in a different way, by including those who also deserted, an area of ill-defined research in military history. [ABSTRACT FROM AUTHOR]

This article draws on case studies or 'microhistories' from the author's own research to explore the ethical responsibility of family historians to represent the experiences of those whose lives have been 'hidden from history', and in particular the lives of one's female ancestors, as a way of correcting the omissions and erasures of official histories. It also discusses the ethical dilemmas posed by the discovery that one's ancestors were involved in activities that are now regarded as morally suspect, such as profiting from the ownership of slaves. Finally, the article debates ethical arguments about respecting the rights of the dead to privacy. [ABSTRACT FROM AUTHOR]

Mauli ola, optimal health and wellbeing from a Hawaiian perspective, is achieved by being pono, or morally just and upright, and maintaining an intricate balance physically, mentally, spiritually, and emotionally through one's relations. Cultural practices, including practices that foster a connection to the water, land, ocean, and natural environment, may serve as protective and resilience factors, thereby promoting health and wellbeing. This paper starts by sharing the genealogical foundations of cultural practices in Hawai'i as the foundations of Native Hawaiian lifestyles and ways of knowing. The paper proceeds with data analyses that aim to better understand the role of cultural practices in relation to connectedness to 'Āina (the land, nature, and the environment, which nourish our bodies) and Native Hawaiian health based on cross-sectional correlations and qualitative data. The findings demonstrate the importance of cultural practices, specifically 'Āina practices, and identify 'Āina protection, restoration, and conservation as major health priorities. The correlations demonstrate statistically significant relationships between cultural practices; a physical, mental, spiritual, and emotional connection to 'Āina; and health outcomes. These findings continue to support literature and other declarations that support healthcare and medicine that are culturally grounded in Indigenous values and traditional systems of medicine. [ABSTRACT FROM AUTHOR]

In 1924, exactly a century ago, the world-famous children's author Alan Milne wrote this much-loved rhyme about the play activities of his young son: Where am I going? I don't quite know. Down to the stream where the king-cups grow-Up on the hill where the pine-trees blow-Anywhere, anywhere. I don't know...Where am I going? The high rooks call: "It's awful fun to be born at all". Where am I going? The ring-doves coo: "We do have beautiful things to do". But in 2024, in much of the Western world, allowing a young child to wander in this manner would be seen by many as dangerous, reckless and negligent. For example, in 2019, Renee Umstattd Meyer and her colleagues found that a large proportion of children in the post-industrial world did not take the recommended amount of exercise in the outdoor environment, and even where spaces were specifically made available to them, parents feared that they would be infiltrated by crime and violence. This article considers the emergent effects of significant cultural change in children's independent and collaborative free play opportunities. It draws on an ethological and biocultural perspective to argue why independent, active free play, particularly involving peer collaboration, is so important to human development. [ABSTRACT FROM AUTHOR]

The Code of Ethics of the Association of Professional Genealogists promotes the communication of coherent, clear, and well-organised information). It is not that simple when adoption features in a family's history. This paper suggests that standard approaches to family tree-construction will struggle to capture the complexities, gaps, and challenges posed by adoption. Firstly, the paper makes the case for family historians having an alertness to adoption by noting the number of people affected by adoption. It then goes on to look at the literature that argues that adoption involves erasures of birth families and makes ghosts of them. Adoption also creates possible selves and lives; the adopted person's "could-have-beens" had there been no adoption, the biological child that the adoptive parents might have had and could not, the birth mother's life with the child lost to adoption. These presences and possibilities haunt all involved in adoption, and writers have posited the existence of a "ghost kingdom". This paper maps out a greater ghost world of adoption, paradoxically full of life, and because of access to birth records, a world that offers a much greater potential for materialisation. The paper avoids the traditional notions of ghosts as things to be shunned or as representatives of pathologies. Instead, it asks for respect for the "not-dead"/"not-past" of adoption and for family history researchers, a capacity to embrace the jumbled, the murky, and the disorganised. People everywhere are increasingly constructing their own family trees, with all the potential for pleasant surprise but also the shock that this might bring. Should genealogists overlook adoption's ghosts then they overlook the opportunity to professionally map a rich and varied world of family knowledge and connections. The paper concludes with this observation coupled with a discussion of other associated ethical implications of family history work where adoption features. [ABSTRACT FROM AUTHOR]

Tracing the ancestral roots of Polish Jews before the introduction of metrical data in 1808 represents a unique and complex challenge for genealogists and historians alike. Indeed, limited official records, shifting geopolitical boundaries, and the absence of standardized documentation practices characterize that early era. Sometimes, however, genealogical sources and records unique to Jews, based on religious daily life and traditions, have subsisted. When available, they open unforeseen avenues into identifiable family histories for which no other record, or personal memories, are available. In other cases, less well-known archival records unexpectedly emerge to elucidate a perplexing genealogical problem. The present article deals with two such instances with a similar starting point, namely, the apparent impossibility of merging two family clusters with the same surname in a given town. The first case deals with two separate KUMEC clusters in the small Polish town of Konskie. Research of this specific case, using limited official records, leads to the discovery of a single-family line dating back to the early 1600s, by means of complementary metrical and rabbinical data. The second case deals with two distinct KRELL clusters in the city of Warsaw, which, after 25 years of extensive but unsuccessful research, finally leads to merging into a cohesive KRELL ancestral line dating back to the early 1700s, by means of a less exploited source of archival records. The present study puts forward guiding principles for searches back to pre-1808 Jewish family history. As such, it should be useful to researchers encountering similar roadblocks in the quest for their Jewish ancestors. [ABSTRACT FROM AUTHOR]

The article focuses on the manuscript Stowe 57, which contains a compilation of different texts attributed to Geoffrey of Ufford. It includes a wide range of subjects such as grammar, history, and medicine. The author argues that Stowe 57 was not a random collection, but a deliberate project by Geoffrey of Ufford to create a comprehensive repository of knowledge. The manuscript is believed to have educational purposes, as it includes instructional material on various subjects. However, more research is needed to fully comprehend the manuscript's context and purpose. [Extracted from the article]

Narrative is a fundamental form of historical thinking. As such, narrative is a representational framework through which real events can be ordered into simplified temporal sequences unfolding within historical settings, driven by the interaction of historical personages or collective entities such as nations or classes. These insights, however, are yet to be fully incorporated within the field of applied history, which could profit from a closer consideration of narrative as a concrete manifestation of what has been termed genealogical or processual history. Like the historical analogy, which has been the focus of much research, narrative has the potential to fruitfully make connections between past and present events, but also to misapply history for propagandistic purposes. To address these issues, this article presents a methodological model whose usefulness is demonstrated in two case studies, together with guidelines for how a narrative perspective could inspire future applied history research. [ABSTRACT FROM AUTHOR]

Loyalism was a potent force in the Trans-Appalachian West during the American Revolution. However, the experiences of western Loyalists differed from those elsewhere and provide a broader understanding of the forces affecting Loyalism in the British Empire. There were few reasons for western Loyalists to declare their sympathies and even fewer opportunities to seek assistance from the British. Geography meant that western Loyalists were isolated and could not cooperate effectively with the British government and army, while the threat of Indian attack also gave Loyalists and Whigs a common cause. Consequently, they lacked a clear identity, especially as most westerners were, to some degree, disaffected. Indeed, many frontier "patriots," from George Rogers Clark to Daniel Boone, were associated with disaffection, if not outright Loyalism. Finally, the reintegration of Loyalists into western society after the Revolution meant that memories of Loyalism were written out of family and local histories. [ABSTRACT FROM AUTHOR]

Background: Familial hypokalemic periodic paralysis (HypoPP) is an uncommon genetic disorder characterized by recurrent episodes of muscle weakness and hypokalemia, typically starting in early adulthood. The existence of hyperthyroidism in the presence of HypoPP is more strongly associated with a diagnosis of thyrotoxic periodic paralysis (TPP), with most cases occurring in Asian males with pathogenic KCNJ2 or KCNJ18 variants and without a family history of the condition. This case is novel due to the combination of familial HypoPP and hyperthyroidism induced by Graves' disease, a rare occurrence especially in non-Asian populations. Case presentation: A 40-year-old African American man presented with profound muscle weakness after consuming a high-salt meal. He had a significant family history of hyperthyroidism and hypokalemia. On examination, he showed profound weakness in all extremities. Laboratory tests confirmed hypokalemia and hyperthyroidism, and genetic testing identified a pathogenic variant in the CACNA1S gene (c.1583 G > A, p. R528H), with normal SCN4A, KCNJ2 and KCNJ18 sequencing. He was diagnosed with familial HypoPP and hyperthyroidism due to Graves' disease. He was started on PO methimazole 10 mg three times a day and PO acetazolamide 250 mg twice a day. He was advised to follow a low carbohydrate and low salt diet. Conclusions: This case highlights the importance of considering a genetic basis for HypoPP in patients with a family history of the condition, even when hyperthyroidism is present. The combination of familial HypoPP and Graves' disease is rare and emphasizes the need for careful genetic and clinical evaluation in similar cases. Management should focus on correcting hypokalemia, treating hyperthyroidism, and lifestyle modifications to prevent recurrence. [ABSTRACT FROM AUTHOR]

The article focuses on unraveling the mystery of Laura, a woman buried in the Sunnyside Cemetery at Victor, Colorado, with limited information about her life and death. Topics explored include Laura's potential identity as a transient or a prostitute, efforts to trace her through historical records, and the discovery of her connection to her sister Rose Barnett and mother Mary Walker Rice, shedding light on her family history and possible reasons for her anonymity in historical records.

Background and purpose: Knee joint disorders are divided into two general categories of traumatic and non-traumatic injuries, including skeletal deformities such as genu valgum (knocked knee) and genu varum (bowed legs). Genu valgum and genu varum are two of the most common deformities of the knee joint. These deformities can directly affect the quality of people's social lives. Considering the importance of determining its rate in the youth community, this study aims to determine the relationship between genu valgum and genu varum with anthropometric indices in elementary school students of Dezful City in 2022. Materials and methods: The current research was cross-sectional-analytical, which was conducted in 2022 at the level of elementary schools in Dezful City on 400 students of girls' and boys' schools between 7 and 11 years old. Patient demographic information, including age, gender, height, weight, family history, and hip joint width, was gathered using a questionnaire. To evaluate the deformation of the lower limb, the participants must stand in a way that the knee is in full extension and the ankles of both legs should be close together so that the patella bones on both sides are facing forward. In this position, deformation of the knee joint (genu valgum and genu varum) was determined by measuring the distances between the medial condyles of the femur and the medial malleolus of the ankle, and its relationship with demographic information was evaluated. Results: The frequency distribution showed that 2.5% of the studied subjects had genu valgum, and 11.5% of them did not have genu varum. These results showed the existence of skeletal disorders in knee joints at the rate of 14% in the studied population. Also, the results of this study showed that only 2.2% of the studied population had a family history of musculoskeletal disorders such as genu valgum and genu varum, and 97.5% of them had no family history, which indicated the absence of a significant relationship between the occurrence of disorders and family history (P=0.187). Results showed that there was a significant relationship between the average age and the observation of genu varum and genu valgum disorder (P<0.001). Also, a significant relationship was observed between height and weight and genu varum and genu valgum (P=0.001). It is noteworthy that a significant relationship was observed between the width of the hip joint with these abnormalities (P<0.05). Conclusion: Although the rate of disorders in the sample population was not very impressive, investigations in this study have confirmed a significant relationship between demographic indicators and knee joint disorders. The existence of a relationship between height, weight, age, and other important anatomical indicators, such as the distance between the hip joint and genu varum and genu valgum, probably indicates the increasing trend of observing these disorders in society with growth and changes in the skeletal framework, which requires further evaluation. The findings of this research can be utilized by health policy institutions to mitigate the prevalence of this condition, particularly among the younger population, through implementing suitable plans and strategies. [ABSTRACT FROM AUTHOR]

Éilís Ní Dhuibhne's elegant essay, '"The Old Woman as Hare": Structure and Meaning in an Irish Legend', published in Folklore, delivers the outcome of considerable reading and thinking in just six pages of text, while notes and references take up another two. Gendered readings of Irish oral tradition were rare in the early nineties, especially in such readable form. I happily urged this example of Éilís's work on my students of Modern Irish and retained most of her findings in memory. Rereading it thirty years later, however, I'm led among the small drumlin farms of north-west Cavan, where my maternal grandparents, Patrick and Ellen Magee, grew up. Éilís's own writings range widely, as seams of scholarship, family, memory and landscape enrich and illuminate each other. My essay reflects on my own family research, visits late in life to the border counties, and material written down in one Co. Cavan school in 1937/38 for the National Folklore Collection, and now available on www.duchas.ie. [ABSTRACT FROM AUTHOR]

Copyright of Revista Hidalguía is the property of Revista Hidalguia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

A look into my ethnoautobiography. A look into my life, and the changes I have faced throughout the course of multicultural studies. [ABSTRACT FROM AUTHOR]

Korean wasabi occurs naturally on the young oceanic, volcanic Ulleung Island off the east coast of the Korean Peninsula. Although the Ulleung Island wasabi is reported as Eutrema japonicum and has been suggested to be morphologically identical to cultivars in Korea, very little is known about its taxonomic identity and relationship with other cultivars. In this study, we sequenced the complete chloroplast DNA sequences of three naturally occurring Ulleung Island wasabi plants and six cultivars ('Daewang', 'Daruma', 'Micado', 'Orochi', 'Green Thumb', and 'Shogun') from continental Korea and determined the taxonomic identity of Korean wasabi on Ulleung Island. The size and organization of the complete chloroplast genomes of the nine accessions were nearly identical to those of previously reported wasabi cultivars. In addition, phylogenetic analysis based on the complete plastomes suggested that Ulleung Island wasabi most likely comprises various wasabi cultivars with three chlorotypes ('Shogun', 'Green Thumb', and a unique Chusan type). Based on the complete plastomes, we identified eight chlorotypes for the major wasabi cultivars and the Ulleung Island wasabi. Two major groups (1—'Mazuma' and 'Daruma', and 2—'Fujidaruma'/'Shimane No. 3'/Ulleung Island wasabi/five cultivars in Korea) were also identified based on mother line genealogical history. Furthermore, different types of variations (mutations, insertions/deletions (indels), mononucleotide repeats, and inversions) in plastomes were identified to distinguish different cultivar lines and five highly divergent hotspots. The nine newly obtained complete plastomes are valuable organelle genomic resources for species identification and infraspecific phylogeographic studies on wild and cultivated wasabi. [ABSTRACT FROM AUTHOR]

Background: Breast cancer (BC) is one of commonest malignancies among females. Many factors play a role in breast cancer like age at menarche and menopause, breastfeeding, physical activity, and dietary habit. However, genetics still play a significant role as a key player in breast cancer occurrence. Objectives: This research aimed to assess the gene expression of Lnc RNAs AK058003 and to analyze their dysregulation with clinical features in Egyptian BC patients. Methods: A case-control research was done with 27 breast cancer patients ages 30 to 80 years old at Beni-Suef University Hospital, Clinical Pathology Department & Oncology Department .The average participation ages of 27 patients were matched with 27 healthy controls. Using the qRT-PCR kit, we detected LncRNAs AK058003 gene expression levels in the blood. Results: BC patients had a higher level of LncRNAs AK058003 gene expression than healthy controls (P =0.025), there was a correlation between LncRNAs AK058003 and family history (P- value=0.010). The sensitivity and specificity of AK058003 is 74.1% and 77.8% respectively at cut off value 0.42 (P=0.025) was found among breast cancer. The level of the gene expression was not linked to patient age, parity, or grade & type of BC (P>0.05). Conclusion: There was a significant association between LncRNAs AK058003 expression level in the blood of BC females, but further research is needed to completely understand LncRNA's molecular mechanisms for future incidence and prognosis. [ABSTRACT FROM AUTHOR]

The concept of genealogical memory is commonly presumed to be synonymous with family or intergenerational memory. However, this paper asserts the necessity for a more detailed examination, seeking to refine and contextualize these notions from a genealogist's perspective. Exploring the focal point of this study, genealogical memory unveils distinctive characteristics that warrant meticulous scrutiny. Foremost among these characteristics is its intentional nature and inherently reconstructive essence, enabling the recollection of long-deceased ancestors and contemplation of their fates. Consequently, genealogical memory proves invaluable in bridging the 'floating gap' between communicative and cultural memory, as posited by Jan Vansina's conceptualization. The primary objective of this article is to comprehensively explore and structure the concept of genealogical memory, with a particular focus on the genealogist's role as a memory-maker. [ABSTRACT FROM AUTHOR]

Throughout history, it has been observed that human populations have buried the deceased members of their communities following different patterns. During the Copper Age and the Bronze Age—periods on which this study focuses—in the northern sub-plateau of the Iberian Peninsula, we identified different patterns of multiple or collective burial. This work analyzes a total of 58 individuals buried in different multiple or collective graves, to investigate whether the practice of these burials implies a family or biological link between individuals buried together. With this aim, STR markers of nuclear DNA were analyzed, as well as the hypervariable regions I and II of mitochondrial DNA, establishing both close kinship relationships and relationships through maternal lineage. We observed different burial patterns, detecting certain maternal lines preserved in some common burials maintained over time. Close family relationships were observed to a lesser extent, with some occasional exceptions. The results of the analysis formed the basis for a discussion on the concepts of family and community. [ABSTRACT FROM AUTHOR]

A rapidly rising number of people are engaging in family genealogical research and have purchased home-based DNA testing kits due to increased access to online resources and consumer products. The purpose of this systematic scoping review is to identify and elucidate the motivations (i.e., pathways, reasons for conducting family history research) and the consequences (i.e., psychosocial impacts) of participating in this activity by amateur (unpaid) family genealogists. Studies published from January 2000 to June 2023 were included in our review, using the PRISMA methodology outlined by the Joanna Briggs Institute's (JBI) Reviewer Manual. A total of 1986 studies were identified using selected keywords and electronic databases. A full-text review was conducted of 73 studies, 26 of which met our eligibility criteria. The multiple dominant themes that emerged from the data analysis are organized into five categories: (1) the motivations for practicing family history research, (2) emotional responses to family secrets and previously unknown truths, (3) impacts on relationship with the family of origin and other relatives, (4) impacts on personal identity (including ethnic/racialized and family/social), and (5) identity exploration and reconstruction. Finally, these themes are connected to broader theoretical/conceptual linkages, and further, an agenda for future research inquiry is developed. [ABSTRACT FROM AUTHOR]

A personal narrative is presented which explores the author's experiences and reflections, beginning with a poignant encounter with an elderly Afghan woman named Ayesha, and family history of displacement from Uganda to Canada.