Disease In Family Research Articles

Whole exome sequencing reveals heparan sulfate proteoglycan 2 (HSPG2) as a potential causative gene for kidney stone disease in a Thai family

Kidney stone disease (KSD) is a prevalent and complex condition, with an incidence of 85 cases per 100,000 individuals in Thailand. Notably, over 40% of cases are concentrated in the northeastern region, indicating a potential genetic influence, which is supported by genetic mutations reported in several families by our research group. Despite this, the genetic basis of KSD remains largely unknown for many Thai families. This study aimed to identify the genetic mutation responsible for KSD in a specific Thai family, the UBRS131 family, which includes four affected individuals. Whole exome sequencing was performed, and variant filtering using the VarCards2 program identified 10 potentially causative mutations across 9 genes. These mutations were subjected to segregation analysis among family members and screened in 180 control and 179 case samples using real-time PCR-HRM or PCR-RFLP techniques. Prioritization of these variants using GeneDistiller identified the p.Asp775Glu mutation in the heparan sulfate proteoglycan 2 (HSPG2) gene as the likely causative mutation for KSD in this family. The Asp775 residue is highly conserved across vertebrates, and structural analysis suggests that the Glu775 substitution may disrupt the formation of two crucial hydrogen bonds, potentially altering the mutant protein’s configuration. Immunohistochemistry confirmed the presence of perlecan (HSPG2 protein) in the proximal tubules in nephrons. These findings highlight the significant role of the HSPG2 gene in familial KSD within this study family.

Imaging comparative analysis of familial and sporadic gout in Chinese men by multijoint ultrasonography.

This study aimed to compare the imaging features of bilateral knees, ankles, and the first metatarsophalangeal joint using high-frequency ultrasonography in male patients with familial and sporadic primary gout and sought to elucidate the relationship between the presence of tophi and various clinical indicators. Male patients with primary gouty arthritis (GA) in the acute phase presenting to the Department of Rheumatology and Immunology at the First Affiliated Hospital of Chengdu Medical College from November 2020 to June 2022 were enrolled and classified into familial and sporadic gout groups. Comparative analyses of their clinical data and ultrasonographic imaging findings of the knees, ankles, and first metatarsophalangeal joints were performed between the groups. Univariate and multivariate logistic regression analyses, as well as receiver operating characteristic (ROC) analysis, were conducted to determine the effectiveness of significant factors in the prediction of tophi. In comparison to male patients with sporadic gout, those with familial primary gout exhibited lower age, body mass index, disease duration, and serum uric acid (SUA) levels. However, they demonstrated higher incidences of tophi and bone erosion (54.6% in familial gout vs. 35.1% in sporadic gout, p < 0.05; 71.2% in familial gout vs. 48.1% in sporadic gout, p < 0.05, respectively), with a greater prevalence of tophi in the right first metatarsophalangeal joint (44.2% in familial gout vs. 32.3% in sporadic gout, p < 0.05). Independent risk factors for tophi included family history (OR = 6.712), age (OR = 1.049), disease duration (OR = 1.134), and SUA levels (OR = 1.006). ROC analysis yielded an area under the curve of 0.883 (p < 0.05) for predicting joint tophi using these factors. Male patients with familial primary GA in the acute phase experienced earlier onset, shorter disease duration compared to those with sporadic gout. They also had more affected joints, more frequent and a wider distribution of tophi, especially in the right first metatarsophalangeal joint. Family history, age, disease duration, and SUA levels are predictive of tophi formation.

Synergistic toxicity of compound heterozygous mutations in the COL4A3 gene causes end-stage renal disease in A large family of Alport syndrome

Alport syndrome (AS) is a genetic disorder characterized by kidney disease and hearing/vision abnormalities, resulting from mutations in the COL4A3, COL4A4, or COL4A5 genes. While numerous mutations have been identified in AS cases, the precise molecular mechanisms, particularly for compound mutations, remain under investigation. This study investigated the molecular mechanisms of AS in a proband with end-stage kidney disease (ESKD) using whole exome sequencing, which identified two compound heterozygous COL4A3 missense mutations: NM_000091.5:c.1354G > A (p.G452R) and NM_000091.5:c.4793 T > G (p.L1598R). Sixteen family members of the proband were genotyped, and further analyses, including in silico structural prediction, molecular docking, and in vitro co-immunoprecipitation assays, revealed that the p.G452R mutation disrupted the collagen triple helical structure, associated with hematuria in carriers, while the p.L1598R mutation interfered with the interaction between the NC1 domains of COL4A3 and COL4A4 proteins, crucial for collagen trimerization. These findings demonstrate a synergistic loss-of-function effect of the two mutations, contributing to the AS pathogenesis in the proband, and emphasize the importance of genetic screening and personalized treatment strategies for AS.

Prediction of family inheritance in non-sarcomeric hypertrophic cardiomyopathy using clinical variables and 12-lead electrocardiogram artificial intelligence models

Abstract Background Hypertrophic cardiomyopathy (HCM) can be familial even in the absence of a causative sarcomeric variant, justifying periodical screening of first-degree relatives. However, indiscriminate screening may burden low-risk individuals unnecessarily. The prevalence and predictors of familial disease in non-sarcomeric HCM remain inadequately characterized. Purpose Our study aims to develop a tailored approach to family screening based on index cases’ clinical profiles. By leveraging artificial intelligence (AI) models, we aim to predict the likelihood of family disease using pertinent clinical variables and electrocardiograms (ECGs) from the proband. Methods From January 2008 to June 2022, all probands diagnosed with HCM at our Heart Institute genetics clinic were included if they had i) negative genetic testing for a (likely) pathogenic variant in a sarcomeric gene and ii) ≥1 first- or second-degree relative screened for HCM. The outcome was the presence of family disease defined as left ventricular wall thickness ≥13mm or verified autopsy report confirming HCM. Predictors of family disease were assessed at the first genetic clinic visit and considered age, sex, hypertension, and echocardiography metrics (maximal wall thickness, septal morphology, outflow tract obstruction at rest or Valsava). Using 12-lead ECGs and clinical variables, we used machine learning to train two distinct AI models. Model A utilized ECG signals only to train a ResNet model, while Model B used both ECGs and selected clinical variables (below 0.2 alpha level in logistic regressions) to train a random forest model to predict family disease. We performed evaluations at both ECG-level (one ECG used per patient) and patient-level (all available ECGs used in a patient) and we present individual and ensemble model performance. Results Among 356 families with sarcomere-negative HCM, 106 (30%) were familial. Probands were aged 53 ± 16 years, 30% female, 36% with a diagnosis of hypertension and 43% with peak outflow tract obstruction ≥30mmHg. In univariable logistic regressions, family disease was associated with age at diagnosis (OR 0.89 per 5-year, P=0.003), hypertension (OR 0.60, P=0.046) and obstruction (OR 0.52, P=0.013). The ensemble AI model, which integrated clinical and ECG data, achieved an AUC of 0.82 (95% CI: [0.795, 0.848]). It demonstrated a specificity of 0.891 (95% CI: [0.867, 0.913]) and a negative predictive value of 0.798 (95% CI: [0.772, 0.823]). When comparing ECG-level and patient-level data (1 to 10 ECGs per patient), the models consistently achieved AUC values between 0.78 and 0.81, indicating stable performance across various data subsets. Conclusion The prevalence of family inheritance in sarcomere-negative HCM can be accurately predicted using AI models that integrate clinical variables and 12-lead ECG data. This approach could enable tailored screening strategies based on the likelihood of family disease.

Family Resilience in Patients With Schizophrenia: Potential Influencing Factors and Mediating Effect.

To identify the determinants of family resilience in the recovery of individuals with schizophrenia using Walsh's family resilience framework. A cross-sectional study. In Northeast China, 403 patients diagnosed with schizophrenia were enrolled for this study, assessing family resilience, family communication, social support, illness knowledge, hope and family functioning. Regression analyses were conducted using SPSS 27.0, and mediation effects were examined using Mplus 7.0. Logistic regression showed that female gender and having a sibling as a caregiver were negatively associated with family resilience, while a higher educational level was positively associated. Mediation analysis showed that family functioning and hope levels mediated the impact of family communication, social support and disease knowledge on family resilience, confirming their crucial roles. Family functioning and hope are central in mediating the relationships between family communication, social support, illness knowledge and family resilience in families dealing with schizophrenia. The findings of this study enable psychiatric nurses and policymakers to devise intervention strategies that enhance family resilience among patients with schizophrenia, thereby facilitating their recovery and well-being. No patient or public engagement.

Factors Associated with Patient Activation in People with Heart Failure based on the Individual and Family Self-Management Theory: A Cross-sectional Study.

Patient activation (PA) is crucial for effective self-management of people with heart failure (HF). Clarifying factors associated with PA might be important to develop interventions to promote PA. This study aimed to explore Context factors associated with PA in people with HF. 268 patients were enrolled in a cross-sectional study (Median age=65 years). We surveyed variables based on Context factors of the Individual and Family Self-Management Theory (IFSMT), including demographic and disease factors, quality of chronic care, family function, and depression. Correlation analysis was conducted for data analysis, and path analysis was used to verify our hypothesis model about Context factors and PA. The median PA score was 51.10. Path analysis showed that age, educational level, living arrangement, device therapy, quality of chronic care, family function, and depression were directly or indirectly related to PA. The quality of chronic care mediated the associations between device therapy and educational level and PA. Age, educational level, living arrangement, and quality of chronic care affected family function and then affected activation. Depression mediated the relationships between the quality of chronic care, educational level, family function, and PA. This study increased the understanding of factors associated with PA in the HF population. When assessing PA in people with HF, those who are older, have a low educational level, living alone need more attention from healthcare professionals. Interventions focusing on improving the quality of chronic care, family function, and depression might help activate people to practice self-management.

A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3.

SGSM proteins are small modulator proteins interacting with proteins in the RAS signaling pathway. Studies with mouse and human tissues indicated that SGSM genes were highly expressed in the brain and could be expressed at different levels at different stages of development in fetal and adult brain tissue. It was first reported by Birnbaum et al. that the SGSM3 gene might be associated with a Mendelian inherited disease in families of Ashkenazi Jews with clinical manifestations of intellectual disability (ID). In this study, a novel homozygous stop-gain (NM_015705.6: c.1576C>T: p.(Arg526Ter)) variation was detected in the SGSM3 gene in two siblings with short stature and ID findings. The report of two cases with bi-allelic LOF variants in the SGSM3 gene from different populations with similar clinical manifestations strengthens the potential of this gene as a candidate gene for the nonsyndromic ID phenotype. Functional studies are required to investigate the signaling pathways affected by SGSM3 gene variations to produce the ID phenotype and their effect on the functioning of neurons.

Negative results from DNA-based population screening for adult-onset diseases: the recipients' experience.

DNA-based population screening for adult-onset diseases holds promise for advancing personalized medicine and improving public health. Yet as most individuals pursuing such screening receive negative results, the return of results process must ensure that negative results and their implications are clearly understood. We explored the experiences of adults who received negative results from such screening as part of the Electronic Medical Records and Genomics consortium Phase 3 project (eMERGE-3) at Columbia University. In addition to a laboratory report and a standard counseling letter explaining the negative results, participants were randomized to receive (or not) a vignette explaining the results. A diverse cohort of 437 adult participants completed both baseline and post-result surveys. Many participants reported motivations that did not match the screening goals and included hope for diagnosis and family disease risk. A quarter of participants reported not feeling confident explaining their results to others (n = 105, 24%), and those who did not receive the vignette were less confident than those who did (29% versus 19% respectively; p-value = 0.02). Open-text responses about personal and family members' reactions to the results suggested that some perceived an exaggerated benefit from the negative result and might forgo more appropriate genetic testing. Our findings highlight the complexity of returning negative results and raise concerns that participants might forgo more suitable genetic testing. Future research is needed to compare the efficacy of different forms of ancillary materials on individuals' comprehension of negative results.

Depression among Alopecia Areata Patients: Prevalence and associated factors in a Tunisian sample.

Introduction Alopecia areata (AA) is a common, chronic inflammatory, non-scarring form of hair loss affecting 0.1-0.2% of the population. It is a psychosomatic disease involving a T-cell-mediated immune reaction against hair follicle antigens during the anagen phase. Psychiatric morbidity in dermatological patients can significantly affect their quality of life and disease progression. Identifying and addressing these comorbidities in AA patients is crucial. Aim This study aimed to estimate the prevalence of depression and its associated factors among patients diagnosed with alopecia areata (AA). Methods The present study is a cross-sectional, descriptive, and analytical study conducted at Farhat Hached Hospital in Sousse, Tunisia, during the period from August to December 2019. Participants were recruited from the Dermatology Outpatient Department. The questionnaire covered socio-demographic characteristics, personal and family history, AA history, clinical presentation, disease severity (SALT score), nail involvement, and depression assessment using the Hamilton Depression Scale (validated Arabic version). Results A total of 60 AA patients were enrolled, with a mean age of 37.6 ± 12.9 years. Females exhibited a predominant representation, with a male to female ratio (M/F) of 0.76. According to the Hamilton Depression Scale (HAM-D), 31 cases (51.7%) were depressed, with a mean depression scale score of 11.33 (±6.57 SD). The presence of depression was significantly associated with younger age (p=0.018), the presence of the eyelashes/eyebrows form (p=0.035), nail involvement (p= 0.03), and a poor response to treatment (p=0.004). Conclusion Our research highlights the importance of providing psychological support to alopecia areata patients.

The Robison D. Harley, MD Childhood Glaucoma Research Network International Pediatric Glaucoma Registry: The First 872 Cases

PurposeTo report on epidemiologic data from an international, centralized pediatric glaucoma database of 872 patients, focusing on genetic and clinically significant factors. DesignDatabase study utilizing retrospective analysis. Subjects872 children, both female and male, were included in the database. After accounting for database coding errors, data from 865 patients with pediatric glaucoma were analyzed. Number of eyes analyzed fluctuated for each variable. MethodsThe registry is an open access, no charge, REDCap database. Participating clinical centers input data with local Institutional Review Board approval and subsequently have access for research purposes. We retrospectively reviewed 872 patients, comparing demographics, family history, country, disease presentation, and CGRN diagnoses. Analyses for each variable were conducted in SPSS Software v.28.0. Chi-square analyses were performed for nominal data, and ordinal and continuous data were analyzed using Mann-Whitney test, analysis of variance or Kruskal-Wallis tests with multiple comparisons. Main Outcome MeasuresCGRN glaucoma type and markers of clinical severity by country (laterality, cup-to-disc ratio (CTD), corneal diameter, opacification, edema; visual acuity (VA), intraocular pressure (IOP), Haab striae, axial length). Results20 clinical sites from 10 countries entered data. Centers in the USA, India, and Iran input the most data. In the USA, open angle glaucoma following cataract surgery was most common, while in India and Iran it was primary congenital glaucoma neonatal onset. Bilateral disease was more frequent in India and Iran compared to the USA (X2 = 50.6, p<0.001). Clinical measures of severity were typically worse in India compared to the USA. This included increased CTD (X2 = 24.0, p = 0.002), increased corneal diameter (X2 = 8.9, p = 0.01), presence of corneal opacification (X2 = 10.7, p = 0.001), presence of corneal edema (X2 = 11.7, p<0.001), and worse VA (U = 873.5, p<0.001). IOP and presence of Haab striae were not associated with country (p>0.05), while axial length was increased in the USA by an average of 1.04mm (U = 5787, p = 0.002). ConclusionsThis registry has potential to advance our understanding of pediatric glaucoma. Differences in family history, disease presentation, and glaucoma type suggest unique country phenotypes. Registry expansion may allow for insight into best practices for pediatric glaucoma.

Importance of ferritin research in clinical practice

Serum ferritin (SF) is typically present in serum at concentrations directly related to iron (Fe) storage and is therefore traditionally used as an indicator of Fe levels in body tissues. Reducing its level is the “gold standard” for diagnosing widespread iron deficiency conditions. No less significant is hyperferritinemia — a nonspecific syndrome that occurs when Fe reserves are overloaded, a number of immunoinflammatory, infectious, oncological diseases, liver diseases, etc. In many pathological conditions, the level of SF determines the severity and prognosis of the disease. Ferritin concentrations greater than 1000 ng/mL, regardless of cause, have been shown to be associated with higher mortality. The reason for the increase in the level of SF in liver pathologies (cancer, hepatitis, cirrhosis) is associated with the process of its release from hepatocytes during their destruction. On the other hand, excessive synthesis and/or cellular secretion of ferritin occurs under the influence of various stimuli (cytokines, oxidative stress, hypoxia, oncogenes and growth factors). The interpretation of elevated ferritin values goes far beyond the role of an indicator of replenishment of Fe stores in tissues. Only 10% of cases of hyperferritinemia are associated with iron overload; in most patients, it is defined as the result of the acute phase and a reactive increase in ferritin levels against the background of any disease. The variety of symptoms of iron deficiency syndromes and hyperferritinemia is due to the involvement of many organs and systems, which requires a thorough examination (study of complaints, anamnesis, family and concomitant diseases, as well as the necessary laboratory and instrumental studies) to search for possible causes. Systemic Fe homeostasis must be closely monitored on a regular basis. It is required to comply with the conditions for blood sampling for SF. Reference values for SF concentrations vary depending on the analytical methods used and the population studied. Age and gender play an important role. Given the range of reference values, it is important for a particular patient to focus on the initial level of his ferritin, determined against the background of health and well-being during clinical observation.

Botulinum toxin and botulism. A clinical case.

Botulism is an acute infectious disease caused by a neutrotoxin produced by the bacterium Clostridium botulinum and characterized by severe bulbar lesions. Botulism is characterized by the complexity of diagnosis and in adverse cases can lead to death. At the moment, in the complex therapy of botulism, the introduction of a mixture of antitoxic serums is mandatory. In addition to specific treatment, pathogenetic therapy is performed for all patients. Specific prophylaxis is carried out with polyanatoxin to a narrow group of people in contact with Clostridium botulinum or their toxins. However, neutralizing anti-botulinum antibodies may be detected in the blood serum of a number of individuals, which have a protective effect when encountering an infection. This article presents a clinical case of severe botulism in an adult patient with simultaneous absence of symptoms of the disease in family members.Botulinum toxin preparations have long been used in aesthetic medicine. It is worth noting that the botulinum toxin molecule has a high molecular weight and can cause an immune response with repeated injections, especially in areas rich in lymph nodes. Forming specific antibodies belong to the IgG class and may have neutralizing properties. In the above clinical case, the patient’s wife, during repeated injections of botulinum toxin, most likely, the formation of neutralizing antibodies occurred, which, in turn, protected the woman from the disease.

Women’s coping and adaptation strategies to climate change: a case of the Dodoma Region

ABSTRACT Climate change is escalating in intensity, frequency, and complexity. Its related threats have profound implications for humanity, particularly women. Measures to cope with and adapt to it have been researched in general and does not focus on the role of women in the specific community, who bear the brunt of the strife associated with climate change. It is from this view that this research assesses the effects of women’s coping and adaptation mechanisms to climate change. Data were collected through household surveys, key informant interviews, observation, and documentary reviews. The collected data were descriptively analysed with the aid of SPSS version 20 and Microsoft Excel. Results indicate that communities understood climate change in terms of variability in rainfall patterns and amounts, water availability, increased incidences of drought, and decreased agricultural yields. Such events reduced agricultural productivit and led to the reoccurrence of food insecurity. Women grew drought-tolerant and early-maturing crop varieties, walking long distances to fetch water, crushing pebbles, and engaging in small vending businesses, which had some effects, including falling into family conflicts, diseases, and food insecurity. The study suggested that there is a need for upscaling awareness and capacity building on good agricultural practices, the provision of loans to small vending businesses, and the provision of inputs that assist women to cope with climatic changes smoothly.

Intergenerational Chain of Violence, Adverse Childhood Experiences, and Elder Abuse Perpetration

It is widely known that individuals with adverse childhood experiences (ACEs) have an increased risk of abusing their own children, thereby perpetuating the cycle of violence. However, the association between ACEs and elder abuse perpetration has not been fully examined. To examine the association between ACEs and elder abuse and the mediating factors. This cross-sectional study used data collected via the self-administered Japan COVID-19 and Society Internet Survey from September 12 to October 19, 2022. Men and women aged 20 to 64 years who responded to related questions were included. Data were analyzed from July 2023 to April 2024. ACEs, defined as the experience of any of 7 items-interpersonal loss (parental loss and parental divorce), family psychopathology (parental mental disease and violence in family), abuse (physical and psychological abuse), and neglect-before the age of 18 years. The primary outcome was the perpetration of physical and/or psychological abuse against an older person (aged ≥65 years) self-reported via questionnaire. The direct and indirect effect estimates were determined using logistic regression analyses. Of a total of 13 318 participants (mean [SD] age, 41.1 [12.1] years; 6634 female [49.8%]), 1133 (8.5%) reported perpetrating violence against older adults. Compared with individuals without ACEs, the odds ratios (ORs) for perpetrating violence were 3.22 (95% CI, 2.74-3.79) for those with 1 ACE and 7.65 (95% CI, 6.41-9.13) for those with 2 or more ACEs. In the mediation analysis, factors with large indirect effect estimates included depression (OR, 1.13; 95% CI, 1.11-1.14; proportion mediated [PM], 18.6%), mental illness other than depression (OR, 1.12; 95% CI, 1.10-1.14; PM, 17.3%), and self-rated health (OR, 1.04; 95% CI, 1.03-1.05; PM, 6.0%). These findings suggest that intergenerational cycles of violence may extend to any vulnerable group, not only children but also older adults. Further research into the prevention of ACEs and breaking these cycles of violence is warranted.

Effective and efficient automatic detection, prediction and prescription of potential disease in berry family

Effective and efficient automatic detection, prediction and prescription of potential disease in berry family

Discovery of a novel mutation F184S (c.551T>C) in GATA4 gene causing congenital heart disease in a consanguineous Saudi family

Background & aimCongenital heart disease (CHD) is the most common cause of non-infectious deaths in infants worldwide. However, the molecular mechanisms underlying CHD remain unclear. Approximately 30 % of the causes are believed to be genetic mutations and chromosomal abnormalities. In this study, we aimed to identify the genetic causes of CHD in consanguineous families. MethodsFourth-generation pedigrees with CHD were recruited. The main cardiac features of the patient included absence of the right pulmonary artery and a large dilated left pulmonary artery. To determine the underlying genetic cause, whole-exome sequencing was performed and subsequently confirmed using Sanger sequencing and different online databases to study the pathogenesis of the identified gene mutation. An in-silico homology model was created using the Alphafold homology model structure of GATA4 (AF-P43694-F1). The missense3D online program was used to evaluate the structural alterations. ResultsWe identified a deleterious mutation c.551T > C (p.Phe184Ser) in GATA4. GATA4 is a highly conserved zinc-finger transcription factor, and its continuous expression is essential for cardiogenesis during embryogenesis. The in-silico model suggested a compromised binding efficiency with other proteins. Several variant interpretation algorithms indicated that the F184S missense variant in GATA4 is damaging, whereas HOPE analysis indicated the functional impairment of DNA binding of transcription factors and zinc-ion binding activities of GATA4. ConclusionThe variant identified in GATA4 appears to cause recessive CHD in the family. In silico analysis suggested that this variant was damaging and caused multiple structural and functional aberrations. This study may support prenatal screening of the fetus in this family to prevent diseases in new generations.

Novel splice site and nonsense variants in PKHD1 cause autosomal recessive polycystic kidney disease in a Chinese Zhuang ethnic family.

This study aims to report the clinical characteristics of a child with autosomal recessive polycystic kidney disease (ARPKD) within a Chinese Zhuang ethnic family. We used whole exome sequencing (WES) in the family to examine the genetic cause of the disease. Candidate pathogenic variants were validated by Sanger sequencing. We identified previously unreported mutations in the PKHD1 gene of the proband with ARPKD through WES: a splice site mutation c.6809-2A > T, a nonsense mutation c.4192C > T(p.Gln1398Ter), and a missense mutation c.2181T > G(p.Asn727Lys). Her mother is a heterozygous carrier of c.2181T > G(p.Asn727Lys) mutation. Her father is a carrier of c.6809-2A > T mutation and c.4192C > T(p.Gln1398Ter) mutation. The identification of novel mutations in the PKHD1 gene through WES not only expands the spectrum of known variants but also potentially enhances genetic counseling and prenatal diagnostic approaches for families affected by ARPKD.

A comprehensive study of adverse effects of chemotherapy on female breast cancer patients in NORI Cancer Hospital, Islamabad in a developing country.

Breast cancer is one of the top three malignancies worldwide. While radiotherapy, hormone replacement therapys, and chemotherapy are treatments, chemotherapy causes adverse effects that hinder daily life activities. To assess the prevalence, severity, and association of symptomatic toxicities in female breast cancer patients affecting various organ systems post systemic chemotherapy (adjuvant and neoadjuvant), and their impact on daily activities. Additionally, to determine the severity of adverse effects in specific age groups and their association with family history and disease stage. An observational study was conducted on 253 female breast cancer patients receiving chemotherapy at NORI Cancer Hospital from May to October 2023. Data collection tools included the NCI-PRO-CTCAE standardized questionnaire and patient medical records. Analysis was performed using descriptive statistics, T-tests, and Chi-square tests. Among the 253 patients, 41.4% were aged 41-50. Significant weight changes (p = 0.034) were observed with more than three chemotherapy cycles. Notable associations included increased chemotherapy cycles with gastrointestinal (mouth/throat sores p = 0.031, vomiting p = 0.021), respiratory (cough p = 0.04), cardiovascular (arm/leg swelling p = 0.007, palpitations p = 0.052), integumentary (hair loss p = 0.000, skin dryness p = 0.054), and musculoskeletal (fatigue p = 0.002) adverse effects. Positive family history and the 18-30 age group also showed significant associations with adverse effect severity. Disease stage significantly influenced the nervous system (stage 2 p = 0.007, stage 3 p = 0.01). The severity of adverse effects varies among age groups, depending on disease stage, genetics, and treatment duration. These patient-reported outcomes highlight the need for better management strategies considering prognostic factors and treatment adverse effects.

Underdiagnosis of botulism as a cause of tragedy: A case report

Botulism has unique clinical picture; however, some of its manifestations, when analyzed separately, are similar to the manifestations of other, both infectious and noncommunicable diseases. This contributes to the occurrence of diagnostic errors because botulism is not one of the most common infectious diseases; as a result, most practitioners are familiar with the clinical picture of botulism purely theoretically and clearly insufficiently. The article analyzes the course of botulism in a group of family diseases when, at the first visit to specialists, botulism was diagnosed in any of the patients not receiving medical care. In addition, the causes and effects of prolonged toxemia (20 days) in one of the patients are discussed.

Ethnic diversity and divergent perceptions of climate change: a case study in Southwest China

Understanding divergent perceptions of ethnic groups to climate change in mountainous regions home to multi-ethnic cultures and the factors influencing these perceptions is crucial for policymakers to predict the trending impacts of climate change and make long-term decisions. Based on the case of Southwest China, 1216 households were interviewed by questionnaire surveys to gain insight into the perceptions of local people on the dynamic evolution characteristics of climate events in the uplands of Yunnan, China, which is an area home to rich ethnic diversity, and also to determine the factors that influence these perceptions. Results indicated that climate events have now become important events for farmers’ livelihoods, ranking only after family diseases and livestock diseases. Drought, long-term drought, and erratic rainfall are the three kinds of climatic events with the most significant increase in frequency and severity in mountainous areas. Farmers’ perceptions on whether drought, long-term drought, and erratic rainfall occurred 10 years ago as well as changes in frequency and severity are significantly influenced by characteristics of respondents, ethnic culture, geographical environment of farmer residences, farmland characteristics, and sources of livelihood. Ultimately, taking ethnic differences into consideration for long-term planning will be an important part of the local response to climate change in the future.