First-degree Relatives Research Articles

The Significance of Screening Family Members in Glaucoma: Opportunities and Challenges.

This article delves into the imperative of screening family members of patients with glaucoma due to the disease's hereditary nature. It discusses the significant risks faced by first-degree relatives, approaches for identification, and challenges in implementing effective screening strategies. Emphasizing education, targeted campaigns, community involvement, and collaborative healthcare approaches, the article highlights the potential for mitigating undiagnosed glaucoma cases through strategic interventions targeting high-risk individuals. This article underscores the importance of screening family members of glaucoma patients, emphasizing the hereditary nature of the disease and the potential for screening to allow for early intervention to help prevent unnecessary vision loss. Glaucoma, affecting over 111.8 million by 2040, is relatively asymptomatic until late in the disease. Genetics predispose to glaucoma, with up to 70% heritability. High-risk individuals, particularly first-degree relatives, exhibit substantially elevated glaucoma risks-up to 22% compared with 2.3% in controls. Family history also correlates with greater disease severity. Identifying high-risk family members through cascade screenings for causative genes or direct examinations during proband visits emerges as efficient strategies. Challenges persist, including slow progression, healthcare accessibility, and ethical dilemmas in implementing family member screening. Challenges extend to the healthcare system, socioeconomic barriers, and familial communication issues. Efforts to educate probands and the public on the hereditary nature of glaucoma are pivotal. Tailored education campaigns, leveraging clinic visits, and community screenings, complemented by optometrist collaboration, form essential strategies. Although challenges hinder family member screening, educating probands, targeted patient education, collaborative healthcare approaches, and community involvement offer promising avenues to combat undiagnosed glaucoma cases.

Delving the vitamin D receptor variation and expression profiles in the context of type 2 diabetes among families.

Vitamin D is essential for insulin secretion and sensitivity. Consequently, its inadequacy is linked to higher insulin resistance and Type 2 Diabetes (T2D). The Vitamin D receptor (VDR) gene is one potential candidate for T2D, and multiple polymorphisms in VDR have been examined in various populations, but no conclusive answers have been provided. This study was designed to evaluate the susceptibility of VDR gene polymorphism and its expression in diabetic families in Pakistan. In this family-based study, twenty diabetic families with a positive family history of T2D and at least three T2D patients were recruited from outpatient clinics and public hospitals. The current study comprised 143 individuals with 55 affected and 88 unaffected individuals.Blood samples of the selected families were collected. DNA was extracted from the collected samples and the PCR-RFLP method was followed to identify the genotyping and RT-qPCR for expression. Phenotypic and genotypic pedigrees of the families were developed by the progeny online tool. The association values of SNPs were determined by TDT and DFAM analysis implemented on Plink software. The results explained a significant familial aggregation among phenotypic characters including Age, Gender, BMI (body mass index), age of disease diagnosis, disease duration, and blood pressure in the probands, affected FDRs (First Degree Relatives) and affected SDRs (Second Degree Relatives). A significant association of rs731236 C/T (OR = 1.522), rs2228570 C/T (OR = 1.327) with p < 0.05. Whereas, for rs1544410 G/A (OR = 0.9706) and rs7975232 T/G (OR = 0.7368) no considerable association evidence was seen (p > 0.05) in families. The mRNA expression of VDR increased threefold (p = 0.0204) in patients compared to controls. Variation-based expression analysis exhibited that the rs2228570 genotype influences the expression. A linkage was found among the FDRs with probands. Variation in the gene VDR at loci rs731236 and rs2228570 was associated with familial T2D. However further research is required to explore more genetic factors that could influence T2D risks in families.

Factors associated with doing breast self-examination behavior based on Health Belief Model in women working in Neyshabur University of Medical Sciences

Introduction: Early detection of breast cancer is an important factor affecting the prevention and reduction of mortality in females, which increases their quality of life. This study was performed to determine factors associated with the performance of precocious diagnostic behaviors of breast cancer based on the Health Belief Model in women working at Neyshabur University of Medical Sciences, Neyshabur, Iran. Method: This descriptive cross-sectional study was conducted on 277 employed females at Neyshabur University of Medical Sciences. Data were collected using a valid and reliable questionnaire and analyzed in SPSS software (version 16) using descriptive and inferential statistical tests. Results: Mean age of the participants was 32.09 ± 7.39 years. Results of the Mann-Whitney U test showed significant differences between females who had and had not performed breast self-exams in terms of perceived importance (P=0.003), health motivation (P=0.01), and perceived barriers to breast self-exam (P=0.001). History of breast cancer in first-degree relatives (OR= 9.20), lower perceived barriers to breast self-exam (OR=0.69), and married status (OR= 0.36) showed the highest correlation with breast self-exam. Conclusion: Results showed that the Health Belief Model can help to identify factors that affect breast self-exam. These results can be used to design and implement educational interventions for breast self-exam and early diagnosis of breast cancer.

Novel anthropometric indices for predicting type 2 diabetes mellitus

BackgroundThis study aimed to compare anthropometric indices to predict type 2 diabetes mellitus (T2DM) among first-degree relatives of diabetic patients in the Iranian community.MethodsIn this study, information on 3483 first-degree relatives (FDRs) of diabetic patients was extracted from the database of the Endocrinology and Metabolism Research Center of Isfahan University of Medical Sciences. Overall, 2082 FDRs were included in the analyses. A logistic regression model was used to evaluate the association between anthropometric indices and the odds of having diabetes. Furthermore, a receiver operating characteristic (ROC) curve was applied to estimate the optimal cutoff point based on the sensitivity and specificity of each index. In addition, the indices were compared based on the area under the curve (AUC).ResultsThe overall prevalence of diabetes was 15.3%. The optimal cutoff points for anthropometric measures among men were 25.09 for body mass index (BMI) (AUC = 0.573), 0.52 for waist-to-height ratio (WHtR) (AUC = 0.648), 0.91 for waist-to-hip ratio (WHR) (AUC = 0.654), 0.08 for a body shape index (ABSI) (AUC = 0.599), 3.92 for body roundness index (BRI) (AUC = 0.648), 27.27 for body adiposity index (BAI) (AUC = 0.590), and 8 for visceral adiposity index (VAI) (AUC = 0.596). The optimal cutoff points for anthropometric indices were 28.75 for BMI (AUC = 0.610), 0.55 for the WHtR (AUC = 0.685), 0.80 for the WHR (AUC = 0.687), 0.07 for the ABSI (AUC = 0.669), 4.34 for the BRI (AUC = 0.685), 39.95 for the BAI (AUC = 0.583), and 6.15 for the VAI (AUC = 0.658). The WHR, WHTR, and BRI were revealed to have fair AUC values and were relatively greater than the other indices for both men and women. Furthermore, in women, the ABSI and VAI also had fair AUCs. However, BMI and the BAI had the lowest AUC values among the indices in both sexes.ConclusionThe WHtR, BRI, VAI, and WHR outperformed other anthropometric indices in predicting T2DM in first-degree relatives (FDRs) of diabetic patients. However, further investigations in different populations may need to be implemented to justify their widespread adoption in clinical practice.

An Examination of the Agreement between Self-reported Diabetes and Paraclinical Tests, Medical Records, and Clinical Examinations: Insights from the Shahedieh Cohort Study, Yazd, Iran.

Many researchers utilize self-reports to evaluate the prevalence of diseases. However, the accuracy of these self-reports remains uncertain in various studies. The objective of this particular study was to validate self-reported cases of diabetes among adults aged 35-70 years participating in the Shahedieh Cohort Study (SHCS). This cross-sectional study was conducted using data from the first phase of SHCS during 2015-2017. The study included 1000 Iranian adults aged 35-70 years. The Gold standard for diabetes was determined by measuring fasting blood sugar (FBS) and evaluating the history of treatment and use of diabetes medications. To assess self-report validity, various statistical indices such as sensitivity, specificity, positive and negative predictive values (NPVs), accuracy, positive likelihood ratio (LR+), negative likelihood ratio (LR-) and AUC were used. The agreement between self-reported diabetes and the gold standard was assessed using kappa statistics. All statistical analyses were performed using SPSS version 13 and R 4.3.1 software. The study findings indicated that the prevalence of diabetes was 18% according to self-report and 19.9% according to the gold standard measurement. The self-report accuracy was 95.67%. There was perfect agreement (kappa=0.86) between the self-report and gold standard criteria. The AUC, sensitivity and specificity of self-reported diabetes were 0.937, 93.82% and 96.08%, respectively. Additionally, the results suggested that the self-report of diabetes was more valid in individuals with a normal body mass index (BMI) and without a family history of diabetes in first-degree relatives. The results showed that in the absence of diabetes control programs, self-report of diabetes is reliable and recommended.

Glaucoma Screening among Relatives of Glaucoma Patients in Anambra State, Nigeria

Aim: To determine the awareness, attitude, and practice of glaucoma screening among adult first degree relatives of glaucoma patients in Anambra State, Nigeria. Study Design: A prospective, descriptive, cross-sectional survey. Place of Study: Eye clinics and community eye care out-reaches that offer primary, secondary, and tertiary eye care services to people within Anambra state, Nigeria. Methods: A pretested, interviewer-administered questionnaire was used to obtain information such as sociodemographic data, awareness and knowledge of glaucoma and the frequency of practice of glaucoma screening. These were analyzed using descriptive and inferential statistics (Chi square test and logistic regression) where applicable. Level of significance was set at a p-value &lt;0.05. Results: A total of 186 first degree relatives (FDRs) of glaucoma patients participated, 120 (59.1%) were females, M: F = 1:1.4 and a mean age 43.87 years ± 14.62 SD. Almost half had a secondary level of education and were traders. Majority (83.9%) and 39.8% had heard of glaucoma and glaucoma screening respectively in the past. However, only 23.7% had been screened for glaucoma. The main reasons respondents gave why they did not screen for glaucoma include 'not necessary', 'no time' and ' not affordable. There was a significant negative relationship between unemployment and poor glaucoma screening practice p=0.007. Conclusion: This study showed a generally poor knowledge, attitude and practices towards glaucoma screening in the study population. Stakeholders need to intensify efforts to make people understand glaucoma risk factors and appreciate the need to have glaucoma screening in their environments.

Facial emotion-recognition deficits in patients with schizophrenia and unaffected first-degree relatives.

This study aimed to determine trait- and state-dependent markers of schizophrenia by investigating facial emotion-recognition (FER) deficits in remitted patients with schizophrenia and their first-degree relatives (FR). Three groups were included: the Schizophrenia group (n=66), their unaffected FR group (n=40), and healthy controls (n=50) who were matched for age, sex, and years of education. A facial-labeling task was used to examine FER deficits using the following eight standardized expressions: happy, fearful, disgusted, angry, sad, contemptuous, surprised, and neutral. There was a poorer accuracy in the recognition of sadness and anger in the Schizophrenia group as well as in contempt in both the Schizophrenia and FR groups compared with healthy controls. The response times for the recognition of contempt, sadness, and neutral emotion were delayed in the Schizophrenia group and those for fear were delayed in the Schizophrenia and FR groups compared with healthy controls. Concerning the accuracy in FER, sadness and anger can be considered state-dependent markers of remitted schizophrenia, and contempt is a trait-dependent marker of schizophrenia. Similarly, for response times in FER, contempt, sadness, and neutral emotion can be considered state-dependent markers of remitted schizophrenia, while fear is considered a trait-dependent marker of schizophrenia. These findings may contribute to the early diagnosis of schizophrenia and the development of relevant therapeutic interventions.

Lp(a) Levels in Relatives of Patients with Acute Coronary Syndrome and Elevated Lp(a): HER(a) Study.

Background: Lipoprotein(a) [Lp(a)] is a proatherogenic particle associated with increased cardiovascular risk. It is mainly genetically determined; so, the aim of our study is to evaluate the levels of Lp(a) in the relatives of a prospective cohort of patients who have suffered from an acute coronary syndrome (ACS) with Lp(a) ≥ 50 mg/dL. Methods: We conducted a multicenter prospective study, in which consecutive patients who had suffered from an ACS and presented Lp(a) ≥ 50 mg/dL and their first-degree relatives were included. Results: We included 413 subjects, of which 56.4% were relatives of the patients. Family history of early ischemic heart disease was present in 57.5%, and only 20.6% were receiving statin treatment. The family cohort was younger (37.5 vs. 59.1 years; p < 0.001), and 4% had ischemic heart disease and fewer cardiovascular risk factors. Mean Lp(a) levels were 64.9 mg/dL, 59.4% had levels ≥ 50 mg/dL, and 16.1% had levels ≥ 100 mg/dL. When comparing the patients with respect to their relatives, the mean level of Lp(a) was lower but without significant differences regarding the levels of LDLc, ApoB, and non-HDL. However, relatives with Lp(a) ≥ 50 mg/dL, had values similar to the group of patients with ACS (96.8 vs. 103.8 mg/dL; p = 0.18). No differences were found in Lp(a) levels in relatives based on the other lipid parameters. Conclusions: Overall, 59.4% of the first-degree relatives of patients who suffered from an ACS with Lp(a) ≥ 50 mg/dL also had elevated levels. Relatives with elevated Lp(a) had similar levels as patients.

The landscape of rare genetic variants in familial Waldenström macroglobulinemia

AbstractWaldenström macroglobulinemia (WM) is a rare hematological malignancy. Risk for WM is elevated 20-fold among first-degree relatives of patients with WM. However, the list of variants and genes that cause WM remains incomplete. In this study we analyzed exomes from 64 WM pedigrees for evidence of genetic susceptibility for this malignancy. We determined the frequency of pathogenic (P) or likely pathogenic (LP) variants among patients with WM; performed variant- and gene-level association analyses with the set of 166 WM cases and 681 unaffected controls; and examined the segregation pattern of deleterious variants among affected members in each pedigree. We identified P/LP variants in TREX1 and SAMHD1 (genes that function at the interface between innate immune response, genotoxic surveillance, and DNA repair) segregating in patients with WM from 2 pedigrees. There were additional P/LP variants in cancer-predisposing genes (eg, POT1, RECQL4, PTPN11, PMS2). In variant- and gene-level analyses, no associations were statistically significant after multiple testing correction. On a pathway level, we observed involvement of genes that play a role in telomere maintenance (q-value = 0.02), regulation of innate immune response (q-value = 0.05), and DNA repair (q-value = 0.08). Affected members of each pedigree shared multiple deleterious variants (median, n = 18), but the overlap between the families was modest. In summary, P/LP variants in highly penetrant genes constitute a modest proportion of the deleterious variants; each pedigree is largely unique in its genetic architecture, and multiple genes are likely involved in the etiology of WM.

Efficacy of targeted screening for familial hypercholesterolemia in children and adults aged &lt;44 years: retrospective, prospective observational study

BACKGROUND: Considering the high cardiovascular risk in patients with familial hypercholesterolemia (FH), early diagnosis and treatment are the basis for the prevention of vascular accidents. In the absence of universal screening, the results of more targeted diagnostics are of interest — the search for lipid metabolism disorders in young relatives of patients with atherosclerotic vascular diseases.&#x0D; OBJECTIVE: To determine the effectiveness of targeted screening for identifying patients with FH, which will justify its widespread use in clinical practice.&#x0D; MATERIALS AND METHODS: At the start of the observational study, 584 patients were identified from the vascular centers of the Krasnoyarsk Regional Hospital, Krasnoyarsk Interdistrict Clinical Hospital No. 20 named after. I.S. Berzon, who had lipid profile data and early cardiovascular events (all forms of coronary heart diseases), including reconstructive vascular interventions up to 55 years in men and up to 60 years in women in the case of first-degree relatives and up to 50 years in second-degree relatives. The study examined patients’ relatives aged 44 years. To diagnose FH in participants aged 16 years, the scale developed by a network of Dutch lipid clinics was used; in participants aged 16 years, the S. Broome criteria were used. Targeted screening and lipid parameters in individuals with probable, possible, and definite FH were analyzed. Data processing was performed using Microsoft Excel and Statistica v. 12.0 (USA). Parametric (calculation of the median and 25th and 75th quartiles) and nonparametric (statistical significance of differences was determined using the Mann–Whitney and χ2 tests) methods were used.&#x0D; RESULTS: The study examined 70 children and 104 adults aged 44 years whose first- and/or second-degree relatives suffered premature vascular events. In the general group of participants, 42 (24.14%) patients had FH (of which 18 were 17 years old) and 37 (21.2%) had hyperlipoproteinemia (a). Definite FH was documented in 16 (9.1%) patients, probable in another 16, and possible in 9. Hyperlipoproteinemia (a) was found in 37 (21.2% of general group) patients, including 12 children (17.1% of pediatric group).&#x0D; CONCLUSION: Not more than 30% of the population are aware of the hereditary nature of lipid metabolism disorders and atherosclerotic diseases. Targeted screening is the least expensive and most effective tool for identifying patients with FH and hyperdipoproteinemia (a).

Factors affecting the willingness of African-American and American Indian/Alaska Native communities to engage in genetic and biomarker research: The UBIGR study

BackgroundDespite the disproportionate impact of Alzheimer’s disease (AD) dementia on Black/African-American and American Indian/Alaska Native groups, they have been underrepresented in biomarker research. Research investigating underrepresented groups’ willingness to engage in research has primarily relied on qualitative research and/or specialized samples (e.g., patients’ first-degree relatives). Similarly, extant quantitative studies include disproportionately small numbers of these participants. This investigation aimed to understand preclinical biomarker and genetic AD research participation in underrepresented groups to facilitate greater diversity in future biomarker research and clinical trials. MethodWe administered an online questionnaire to 599 Black/African-American, 120 American Indian/Alaska Native, and 725 NonHispanic White adults and assessed demographic characteristics and participants’ views on dementia, research, and genetic and preclinical biomarker testing. Attitudes toward research were examined using the standardized 7-item Research Attitudes Questionnaire (RAQ) measure. Using structural equation modeling, we tested a priori hypotheses regarding willingness to engage in AD preclinical biomarker testing. The specific survey item used as the outcome measure asked for agreement with the statement: “I would be willing to undergo any type of testing necessary if it was the only way to find out if I was at risk for AD before there were any symptoms,” answered on a Likert scale (1=strongly disagree – 7=strongly agree). ResultsThe three groups differed significantly in their attitudes toward research, as measured by total RAQ scores. Despite no differences in opinion regarding the overall usefulness of biomarkers, the ethnoracial groups differed in their willingness to engage in preclinical biomarker testing for dementia. Path analysis revealed an excellent model fit, indicating that attitudes toward research, as measured by the RAQ, influenced biomarker testing willingness. These findings suggest the need for outreach and engagement programs to occur before attempting research recruitment, particularly with BIPOC populations.

Novel subtype of obesity influencing the outcomes of sleeve gastrectomy: Familial aggregation of obesity.

Differences in the preoperative characteristics and weight loss outcomes after sleeve gastrectomy (SG) between patients with familial aggregation of obesity (FAO) and patients with sporadic obesity (SO) have not been elucidated. To explore the impact of SG on weight loss and the alleviation of obesity-related comorbidities in individuals with FAO. A total of 193 patients with obesity who underwent SG were selected. Patients with FAO/SO were matched 1:1 by propensity score matching and were categorized into 4 groups based on the number of first-degree relatives with obesity (1SO vs 1FAO, 2SO vs 2FAO). The baseline characteristics, weight loss outcomes, prevalence of obesity-related comorbidities and incidence of major surgery-related complications were compared between groups. We defined FAO as the presence of two or more first-degree relatives with obesity. Patients with FAO did not initially show significant differences in baseline data, short-term postoperative weight loss, or obesity-related comorbidities when compared to patients with SO preoperatively. However, distinctions between the two groups became evident at the two-year mark, with statistically significant differences in both percentage of total weight loss (P = 0.006) and percentage of excess weight loss (P < 0.001). The FAO group exhibited weaker remission of type 2 diabetes mellitus (T2DM) (P = 0.031), hyperlipidemia (P = 0.012), and non-alcoholic fatty liver disease (NAFLD) (P = 0.003) as well as a lower incidence of acid reflux (P = 0.038). FAO patients is associated with decreased mid-to-long-term weight loss outcomes; the alleviation of T2DM, hyperlipidemia and NAFLD; and decreased incidence of acid reflux postoperatively.

Comprehensive Oral Diagnosis and Management for Women with Turner Syndrome.

Turner Syndrome (TS) is a rare genetic disorder that affects females when one of the X chromosomes is partially or completely missing. Due to high genetic and phenotypic variability, TS diagnosis is challenging and is often delayed until adolescence, resulting in poor clinical management. Numerous oral, dental and craniofacial anomalies have been associated with TS, yet a comprehensive description is still lacking. This study addresses this gap through a detailed analysis of oral health and craniofacial characteristics in a cohort of 15 females with TS and their first-degree relatives. Subjects with TS ranged from 3 to 48 years old, none showed evidence of periodontal disease and only the youngest was in mixed dentition. Using the Multifunction System, we identified an aggregation of multiple signs and symptoms in each TS subject, including tooth anomalies (supernumerary molars, agenesis, microdontia, enamel defects, alterations in eruption patterns -advanced and delayed for chronological age-, crowding, rotations and transpositions), malocclusion (class II/1 and II/2) and Class II facial profile, while relatives exhibited fewer manifestations. The early detection of these signs and symptoms is crucial for appropriate referral and the optimal clinical management of TS, especially during the critical period of 9 to 10 years when congenital dental anomalies appear. The use of an established taxonomy to describe these phenotypic features is essential for early detection. Multidisciplinary teams are required to ensure holistic care management in rare diseases like TS.

STENTING OF CORONARY ARTERIES IN ACUTE MYOCARDIAL INFARCTION IN FIRST DEGREE RELATIVES WITH FAMILIAL ATHEROSCLEROSIS

The hereditary predisposition of coronary heart disease is well known, especially in first-degree relatives. We present two cases – mother and son with coronary artery involvement. Initially, endovascular treatment was performed on a 44-year-old son admitted with acute myocardial infarction, 7 years later developed restenosis in the stent, which required repeated intervention. Four months later coronarography and stenting was performed his mother 78 years old with acute myocardial infarction. Genetic factors can influence both the risk of coronary heart disease and the risk of in-stent restenosis.

Depression, anxiety, hopelessness, and suicide in first-degree relatives of patients hospitalised in intensive care units in Türkiye.

The purpose of this study was to investigate the prevalence of depression, anxiety disorder, hopelessness, and suicide among first-degree relatives of patients hospitalised in medical and anaesthesia intensive care units at an academic medical centre. In this case-control study conducted in Türkiye, 32 first-degree relatives of 32 patients hospitalised for 14days or more in intensive care units and 32 healthy volunteers were included for assessment. The Beck Depression Scale (BDS), Beck Anxiety Scale (BAS), Beck Hopelessness Scale (BHS), and Suicide Probability Scale (SPS) were administered to participants. Results: The mean age of patients' relatives was 42.1 ± 11.6years and that of the controls was 43.0 ± 11.3years. The median scores for the BDS, BHS, and SPS were significantly higher among the relatives of the patients than among controls (P = .008, P = .013, and P = .001, respectively). Based on cutoff scores for the BDS and BAS, depression was observed in 56.3% of the relatives of the patients and anxiety disorder was observed in 46.9%. In the group comprising patients' relatives, the median score for the BDS was significantly higher among female participants than among male participants (P = .038). First-degree relatives of patients hospitalised in intensive care units have a higher prevalence of depression, hopelessness, and suicidality. Female relatives are more depressed than male. Ensuring psychiatric evaluation of the relatives of patients hospitalised in intensive care units in Türkiye is important.

Vulnerable at rest? A resting-state EEG study and psychosocial factors of young adult offspring of alcohol-dependent parents

BackgroundOffspring of parents with alcohol use disorder (AUD) are more susceptible to developing AUD, with an estimated heritability of around 50%. Vulnerability to AUD in first-degree relatives is influenced by biological factors, such as spontaneous brain activity, and high-risk psychosocial characteristics. However, existing resting-state EEG studies in AUD offspring have shown inconsistent findings regarding theta, alpha, and beta band frequencies. Additionally, research consistently demonstrates an increased risk of internalizing and externalizing disorders, self-regulation difficulties, and interpersonal issues among AUD offspring. MethodsThis study aimed to investigate the absolute power of theta, alpha, and beta frequencies in young adult offspring with a family history of AUD compared to individuals without family history. The psychosocial profiles of the offspring were also examined in relation to individuals without a family history of AUD. Furthermore, the study sought to explore the potential association between differences in frequency bands and psychosocial variables. Resting-state EEG recordings were obtained from 31 young adult healthy offspring of alcohol-dependent individuals and 43 participants with no family history of AUD (age range: 16–25 years). Participants also completed self-report questionnaires assessing anxiety and depressive symptoms, impulsivity, emotion regulation, and social involvement. ResultsThe results revealed no significant differences in spontaneous brain activity between the offspring and participants without a family history of AUD. However, in terms of psychosocial factors, the offspring exhibited significantly lower social involvement than the control group. ConclusionsThis study does not provide evidence suggesting vulnerability in offspring based on differences in spontaneous brain activity. Moreover, this investigation highlights the importance of interventions aimed at enhancing social connections in offspring. Such interventions can not only reduce the risk of developing AUD, given its strong association with increased feelings of loneliness but also improve the overall well-being of the offspring.

Susceptibility to Treatment-Resistant Depression Within Families

Antidepressant responses and the phenotype of treatment-resistant depression (TRD) are believed to have a genetic basis. Genetic susceptibility between the TRD phenotype and other psychiatric disorders has also been established in previous genetic studies, but population-based cohort studies have not yet provided evidence to support these outcomes. To estimate the TRD susceptibility and the susceptibility between TRD and other psychiatric disorders within families in a nationwide insurance cohort with extremely high coverage and comprehensive health care data. This cohort study assessed data from the Taiwan national health insurance database across entire population (N = 26 554 001) between January 2003 and December 2017. Data analysis was performed from August 2021 to April 2023. TRD was defined as having experienced at least 3 distinct antidepressant treatments in the current episode, each with adequate dose and duration, based on the prescribing records. Then, we identified the first-degree relatives of individuals with TRD (n = 34 467). A 1:4 comparison group (n = 137 868) of first-degree relatives of individuals without TRD was arranged for the comparison group, matched by birth year, sex, and kinship. Modified Poisson regression analyses were performed and adjusted relative risks (aRRs) and 95% CIs were calculated for the risk of TRD, the risk of other major psychiatric disorders, and different causes of mortality. This study included 172 335 participants (88 330 male and 84 005 female; mean [SD] age at beginning of follow-up, 22.9 [18.1] years). First-degree relatives of individuals with TRD had lower incomes, more physical comorbidities, higher suicide mortality, and increased risk of developing TRD (aRR, 9.16; 95% CI, 7.21-11.63) and higher risk of other psychiatric disorders than matched control individuals, including schizophrenia (aRR, 2.36; 95% CI, 2.10-2.65), bipolar disorder (aRR, 3.74; 95% CI, 3.39-4.13), major depressive disorder (aRR, 3.65; 95% CI, 3.44-3.87), attention-deficit/hyperactivity disorders (aRR, 2.38; 95% CI, 2.20-2.58), autism spectrum disorder (aRR, 2.26; 95% CI, 1.86-2.74), anxiety disorder (aRR, 2.71; 95% CI, 2.59-2.84), and obsessive-compulsive disorder (aRR, 3.14; 95% CI, 2.70-3.66). Sensitivity and subgroup analyses validated the robustness of the findings. To our knowledge, this study is the largest and perhaps first nationwide cohort study to demonstrate TRD phenotype transmission across families and coaggregation with other major psychiatric disorders. Patients with a family history of TRD had an increased risk of suicide mortality and tendency toward antidepressant resistance; therefore, more intensive treatments for depressive symptoms might be considered earlier, rather than antidepressant monotherapy.

An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub-Saharan Africa.

Africans are underrepresented in Huntington's disease (HD) research. A European ancestor was postulated to have introduced the mutant Huntingtin (mHtt) gene to the continent; however, recent work has shown the existence of a unique Htt haplotype in South-Africa specific to indigenous Africans. We aimed to investigate the CAG trinucleotide repeats expansion in the Htt gene in a geographically diverse cohort of patients with chorea and unaffected controls from sub-Saharan Africa. We evaluated 99 participants: 43 patients with chorea, 21 asymptomatic first-degree relatives of subjects with chorea, and 35 healthy controls for the presence of the mHtt. Participants were recruited from 5 African countries. Additional data were collected from patients positive for the mHtt gene; these included demographics, the presence of psychiatric and (or) cognitive symptoms, family history, spoken languages, and ethnic origin. Additionally, their pedigrees were examined to estimate the number of people at risk of developing HD and to trace back the earliest account of the disease in each region. HD cases were identified in all countries. Overall, 53.4% of patients with chorea were carriers for the mHTT; median tract size was 45 CAG repeats. Of the asymptomatic relatives, 28.6% (6/21) were carriers for the mHTT; median tract size was 40 CAG. No homozygous carries were identified. Median CAG tract size in controls was 17 CAG repeats. Men and women were equally affected by HD. All patients with HD-bar three who were juvenile onset of <21 years-were defined as adult onset (median age of onset was 40 years). HD transmission followed an autosomal dominant pattern in 84.2% (16/19) of HD families. In familial cases, maternal transmission was higher 52.6% (10/19) than paternal transmission 36.8% (7/19). The number of asymptomatic individuals at risk of developing HD was estimated at ten times more than the symptomatic patients. HD could be traced back to the early 1900s in most African sites. HD cases spread over seven ethnic groups belonging to two distinct linguistic lineages separated from each other approximately 54-16kya ago: Nilo-Sahara and Niger-Congo. This is the first study examining HD in multiple sites in sub-Saharan Africa. We demonstrated that HD is found in multiple ethnic groups residing in five sub-Saharan African countries including the first genetically confirmed HD cases from Guinea and Kenya. The prevalence of HD in the African continent, its associated socio-economic impact, and genetic origins need further exploration and reappraisal.

Cardiovascular Risk Factors Among First-Degree Relatives of Patients with Premature Cardiovascular Disease in Malta. Baseline Findings from the CRISO Project.

A family history of premature atherosclerotic cardiovascular disease (ASCVD) confers a greater risk of developing ASCVD. However, the prevalence of ASCVD risk factors among asymptomatic Maltese adults with parental or fraternal history of premature ASCVD is unknown. The study aimed to evaluate and compare their risk with the general population. Posters to market the project were distributed in cardiac rehabilitation areas. Patients with premature cardiovascular disease facilitated recruitment by informing their relatives about the project. Medical doctors and cardiac rehabilitation nurses referred first-degree relatives. Posters were put up in community pharmacies, and an explanatory video clip was shared on social media for interested individuals to contact researchers. Those eligible were enrolled in a preventive cardiology lifestyle intervention. Their data were compared with the risk in the general population. Many first-degree relatives had a suboptimal risk profile, with 60% (N = 89) having a total cholesterol level of >5.0 mmol/L; 54% having a low-density lipoprotein-cholesterol level of >3 mmol/L; 70.5% being overweight/obese, with 62% having a waist circumference greater than the recommended values; 34.8% having hypertension; 56.2% being inadequately adherent to the Mediterranean diet; 62% being underactive, with 18% being sedentary; and 25.8% being smokers. First-degree relatives had significantly higher proportions of underactive lifestyle (p = 0.00016), high body mass index (>25kg/m2) (p = 0.006), and systolic blood pressure (p = 0.001) than the general population, with 30% having metabolic syndrome. This study determined the prevalence of lifestyle, biochemical, physiological, and anthropometric cardiovascular risk factors among asymptomatic first-degree relatives of Maltese patients with premature ASCVD. First-degree relatives had considerable prevalences of an underactive lifestyle, hypertension, and obesity, suggesting better screening and early risk factor intervention are needed to modify their risk of ASCVD.

FAMILY HISTORY OF PSYCHOLOGICAL DISORDERS MODERATES THE ASSOCIATION BETWEEN PRENATAL MATERNAL STRESS AND RISK OF AUTISM

The increase in number of cases with autism spectrum disorder (ASD) requires further investigation to the etiology of it, which is not fully understood. It is suggested that children who are vulnerable to psychological disorders more likely to develop ASD when experience prenatally stress than children who do not. The researcher sought to conduct a natural experiment by collecting data from a sample derived from population lived in a region that experienced number of the worst civil wars in Libya. The sample consisted of 38 parents of children with ASD and 40 parents of typical children living in south Tripoli. These children were in utero during the civil wars that happened in 2011, 2014, and 2019. A case-control study was carried out comparing the two groups in terms of family history of psychological disorders. The child’s sex, parents’ age, and birth complications were controlled. Conditional logistic regression models were utilized to examine whether family history of psychological disorders predicted ASD. Findings from this study indicated that: children with ASD were more likely to have relatives with psychological disorders than those without ASD; the proportion of relatives with psychological disorders was significantly higher among children with ASD than those without ASD; there was significant associations between ASD and parents’, grandparents’, uncles’, aunts’ psychological disorders, having a first-degree relative suffers from a psychological disorder was associated with increase in odds of ASD. ,having second-degree relatives with a psychological disorder was significantly associated with increase odds of ASD, psychological disorders in first degree relatives and second degree relatives had comparable effect on the risk of ASD, when first degree relatives and second degree relatives affected the risk of ASD did not increase compared to the presence of a psychological disorder in either relatives