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The management of marked horizontal bone atrophy represents a critical challenge for traditional implantology procedures. For this purpose, clinicians have developed several protocols and procedures to allow the most suitable and accurate surgical and prosthetic implant rehabilitation. Despite the development of guided bone regeneration methods and the use of small-diameter implants, the rehabilitation of thin bone areas is a clinical dilemma for the medium- and long-term survival of implant-prosthetic therapies. This clinical case evaluates the use of wedge-shaped implants for the full-arch rehabilitation of an atrophic maxilla with a thin ridge. This treatment choice allowed a minimally invasive rehabilitation, avoiding regenerative bone surgery, while respecting biologic and prosthetic limits. Furthermore, evaluation of the implant stability quotient and marginal bone loss values during the first year of follow-up allowed analysis of the behavior of this rehabilitation in fullarch maxillary cases. [ABSTRACT FROM AUTHOR]

Background: Knowledge and attitude toward electroconvulsive therapy (ECT) play crucial roles in determining the acceptance of ECT as a viable and effective treatment option. Results: This study involved 400 participants (57.3% female), aged 18–25 years (36.8%) and predominantly single (49.8%), with a bachelor's degree or higher (78.8%). Only 1.8% had undergone ECT before. While 32.0% relied on social media for ECT information, only 9.5% had a family history of psychiatric illness, and 5.8% had previous psychiatric visits. Knowledge about ECT was moderate (4.51 ± 1.76). Attitudes were less favorable (2.45 ± 2.47), with concerns about ECT as punishment or inhumane treatment. Public stigma towards mental illness was moderate (mean score: 17.77 ± 6.89), with some disagreement on stereotypes. Significant differences were observed in the knowledge scale based on residing governorates and sources of information (p = 0.003 and < 0.001, respectively). Additionally, significant differences in the attitude scale were reported for sources of information (p = 0.002), and significant differences in public stigma were found among age groups (p = 0.023). Spearman's correlation revealed moderate positive associations between knowledge and attitudes (0.314, p < 0.001) and weak positive associations between knowledge and public stigma (0.185, p < 0.001). Conclusion: Patients with stigma and poor knowledge of ECT may affect their choice in undergoing or advising family members to take on ECT if medically prescribed. [ABSTRACT FROM AUTHOR]

Gestational breast cancer (GBC), defined as breast cancer (BC) diagnosed during pregnancy or the first-year post-partum, accounts for 6–15% of BC cases in women aged 20–44 years. GBC has worse prognosis than non-GBC, but reasons behind are not clear. The GEICAM/2012–03 Study (Molecular Characterization of Gestational Breast Cancer) is a multicenter prospective/retrospective observational registry of patients diagnosed with GBC. From November 2014 to June 2015 seventy patients diagnosed with GBC were included in the study, 30 diagnosed during pregnancy and 40 after delivery. Our current study was aimed to explore differences in epidemiological, clinico-pathological and gene expression features of GBC tumors, from the GEICAM/2012–03 Study, compared to non-GBC tumors from patients of similar age (< 43 years) from six different GEICAM studies, used as non- GBC control population. As per the main objective, the study found multiple differences showing GBC tumors as a different biological entity. GBC showed a more aggressive biology, with higher Ki67 levels, higher incidence of breast and/or ovarian cancer family history, and germline deleterious BRCA1/2 mutations, and are enriched in basal-like intrinsic subtype. GBC patients showed a lower number of tumor infiltrating lymphocytes, while specific genetic signatures highlight differences in GBC´s distinctive transcriptome. Our study shows that GBC is potentially a clinically and molecularly different entity, with specific epidemiological, clinical, and histological features, as well as a distinctive altered immune state and genetic signature. Nevertheless, further studies are needed to better understand the biology of GBC and to identify new targets against which develop new, more effective, targeted therapies. [ABSTRACT FROM AUTHOR]

The incidence of Early-Onset Colorectal Cancer (EOCRC) is increasing. However, the prognosis of EOCRC compared to Late-Onset Colorectal Cancer (LOCRC), and the ideal age for initial colorectal cancer (CRC) screening are not clear. In this study, we identified the pathological differences between the groups and determined the optimal screening age for CRC patients. We included 10,172 patients diagnosed with CRC from January 2011 to December 2021 in this study. Survival differences were compared by plotting Kaplan–Meier survival curves and conducting landmark analysis. Additionally, the diagnostic age of CRC patients was analyzed using age cumulative curves. Compared to LOCRC patients, EOCRC patients had a higher proportion of deficient mismatch repair (dMMR) and more advanced TNM staging (P < 0.05). The five-year survival of EOCRC patients was significantly better than that of LOCRC patients (P < 0.05). Laparoscopic surgery improved the long-term survival of EOCRC patients. Proficient mismatch repair (pMMR) favored the long-term survival of EOCRC patients. The survival rate of EOCRC patients at TNM stages I and II was higher than that of LOCRC patients at the same stages (P < 0.05). The age cumulative curve showed a substantial increase in the number of CRC patients at 40 years. The long-term prognosis of EOCRC patients is better than that of LOCRC patients, especially among those with pMMR, stages I–II, and who undergo laparoscopic surgery. For people with a high risk of cancer, such as a family history of cancer and poor lifestyle habits, the starting age for CRC screening should be 40 years. [ABSTRACT FROM AUTHOR]

Background: Research on breast cancer risk factors and mortality is gaining recognition and attention globally; there is need to add more information on its determinants among patients admitted in hospital. Some studies on risk factors and mortality of breast cancer in Nigeria hospitals conducted in the urban and suburban areas have been documented. Therefore, an addition of a study conducted in the setting of a rural health institution is necessary. This study assessed the risk factors and determinants of mortality among patients admitted for breast cancer in rural Southwestern Nigeria. Methods: A retrospective observational study was conducted on 260 patients who were admitted for breast cancer between January 2010 and December 2023 using a data form and a standardized information form. The data were analyzed using SPSS version 22.0. The risk factors and the determinants of mortality of patients with breast cancer were identified using multivariate regression model. Results: The breast cancer risk factors were old age, family history, tobacco smoking, combined oral contraceptives, and hormonal therapy use. The case fatality rate was 38.1%, and its determinants of mortality were patients who were older (adjusted odds ratio [AOR], 1.956; 95% confidence interval [CI]:1.341-4.333), obese (AOR, 2.635; 95% CI: 1.485-6.778), stage IV (AOR, 1.895; 95% CI: 1.146-8.9742), mastectomy (AOR, 2.512; 95% CI: 1.003-6.569), discontinued adjuvant chemotherapy (AOR, 1.785; 95% CI: 1.092-4.6311), and yet to commence adjuvant chemotherapy (AOR, 2.568; 95% CI: 1.367-5.002). Conclusion: The study revealed that patients with breast cancer were associated with high mortality. Sustained health education to promote early diagnosis, managed co-morbidities, and access to treatment may contribute to reduction in breast cancer mortality in rural Nigeria. [ABSTRACT FROM AUTHOR]

Background To estimate the incidence of primary peritoneal cancer after preventive bilateral oophorectomy in women with a BRCA1 or BRCA2 mutation. Methods A total of 6310 women with a BRCA1 or BRCA2 mutation who underwent a preventive bilateral oophorectomy were followed for a mean of 7.8 years from oophorectomy. The 20-year cumulative incidence of peritoneal cancer post-oophorectomy was estimated using the Kaplan-Meier method. A left-truncated Cox proportional hazards analysis was used to estimate the hazard ratios (HRs) and 95% confidence intervals (CIs) associated with the age at oophorectomy, year of oophorectomy, and family history of ovarian cancer as well as hormonal and reproductive risk factors. Results Fifty-five women developed primary peritoneal cancer (n = 45 in BRCA1 , 8 in BRCA2 , and 2 in women with a mutation in both genes). Their mean age at oophorectomy was 48.9 years. The annual risk of peritoneal cancer was 0.14% for women with a BRCA1 mutation and 0.06% for women with a BRCA2 mutation. The 20-year cumulative risk of peritoneal cancer from the date of oophorectomy was 2.7% for BRCA1 carriers and 0.9% for BRCA2 mutation carriers. There were no peritoneal cancers in BRCA1 carriers who had the operation before age 35 or in BRCA2 carriers who had the operation before age 45. Conclusions For BRCA1 mutation carriers, the annual risk of peritoneal cancer for 20 years post-oophorectomy is 0.14% per year. The risk is lower for BRCA2 carriers (0.06% per year). [ABSTRACT FROM AUTHOR]

Simple Summary: This study assessed the supportive care services offered to breast cancer (BC) patients in Palestinian government hospitals and identified characteristics related to unmet needs. We performed a cross-sectional study involving 362 women, utilizing the Supportive Care Needs Survey (SCNS-SF34) through face-to-face questionnaires, and gathered data on sociodemographic, clinical, and social support variables. The findings indicated that 61% of participants encountered unmet supportive care needs, especially in the areas of health system and information (93.6%), physical and daily living (89.8%), and psychological support (75.1%). Elevated unmet needs are associated with variables like age, marital status, illness duration, analgesic usage, cancer treatments, family cancer history, and social support. This research highlights the urgent need to enhance supportive care services of the health system and information, physical and daily living, and psychological support, to elevate the quality of life for BC patients in Palestine. Background: Breast cancer (BC) is the most common cancer among women in Palestine, where the need for supportive care frequently goes unmet. Therefore, this study aims to assess the supportive care services provided at the governmental hospitals in the southern area of the West Bank and to determine the factors associated with the unmet needs of these services. Methods: A cross-sectional study was conducted on 362 women with BC. Data were collected using a face-to-face questionnaire that included the Supportive Care Needs Survey (SCNS-SF34), patients' sociodemographic, economic, and clinical characteristics, as well as familial history of cancer and social support. Results: The study revealed that 61% of participants had unmet supportive care needs, with health system information, physical support, and psychological support being the most unmet needs. Factors contributing to unmet needs included age, marital status, familial support, and a family history of cancer. Chemotherapy and surgery increased the probability of physical care needs by fivefold, while hormone therapy reduced the probability of psychological needs (AOR = 0.36, p < 0.001) and patient care and support needs (AOR = 0.49, p = 0.01). Additionally, radiotherapy reduced sexual care needs by 58% and biological therapy by 60%. Conclusions: There is an urgent need for enhanced supportive care services for BC patients in the West Bank, especially regarding health system information, physical care, and psychological support. Addressing these needs through targeted interventions could significantly improve patients' quality of life. [ABSTRACT FROM AUTHOR]

To describe genetic and clinical characteristics for patients undergoing genetic testing at our multidisciplinary kidney stone clinic. A retrospective review was performed on patients evaluated in our stone clinic and referred to genetics between 2018 and 2022. Patient demographic, clinical, stone, and genetic data were included. We assessed the specific variants identified in our cohort, both those with a pathogenic association and variants of unknown significance. Of 825 patients seen in our stone clinic from 2018-2022, 50 patients were referred to genetics. Among these patients, 33/50 (66%) underwent genetic testing and were included in the analysis. Of those who underwent genetic testing, a variant was identified in 19/33 (58%) patients, and 9/33 (27%) of these were a known pathogenic variant. Among patients with a pathogenic variant identified, the majority had a family history of stones (55.6%), calcium-based stones (77.8%), had their first stone prior to age 18 (66.7%), were recurrent stone formers (100%), and had been managed medically (88.9%) or surgically (88.9%) prior to testing. When comparing patients with a pathogenic variant, variants of unknown significance, and no variant, there were no significant differences in demographic or clinical parameters. In our stone practice, more than half of patients who underwent genetic testing were found to have a variant. However, the majority of these variants were of unknown significance. Further evaluation regarding how genetic testing can impact nephrolithiasis management is needed. [ABSTRACT FROM AUTHOR]

Background: Family history of Parkinson's disease (PD) is a common finding in PD patients. However, a few studies have systematically examined this aspect. Objectives: We investigated the family history of PD patients, comparing demographic and clinical features between familial PD (fPD) and sporadic PD (sPD). Methods: A cross‐sectional study enrolling 2035 PD patients was conducted in 28 Italian centers. Clinical data and family history up to the third degree of kinship were collected. Results: Family history of PD was determined in 21.9% of patients. fPD patients had earlier age at onset than sporadic patients. No relevant differences in the prevalence of motor and nonmotor symptoms were detected. Family history of mood disorders resulted more prevalently in the fPD group. Conclusions: fPD was found to recur more frequently than previously reported. Family history collection beyond the core family is essential to discover disease clusters and identify novel risk factors for PD. [ABSTRACT FROM AUTHOR]

Background: Primary aldosteronism (PA) is the most common secondary endocrine cause of hypertension with familial hyperaldosteronism type 1 (FH‐1), a rare heritable subtype. Timely identification of FH‐1 is important because of an increased risk of vascular events in affected individuals and because it provides the opportunity to guide appropriate treatment. Genetic testing is recommended if onset is at a young age (<20 years), there is a family history of PA or early cerebrovascular events occur. Aims: To assess national rates of testing for FH‐1, whether this varied over time and by region. Methods: De‐identified data were obtained on genetic testing performed for FH‐1 from 1 April 2010 to 30 October 2023 (163 months) from the Canterbury Health Laboratories database, the sole national testing laboratory for FH‐1. Results: A total of 147 tests were performed, of which 19 (12.9%) were positive. Eleven of the positive tests were requested by one region. Testing rates varied from 0.00 to 0.63 per 100 000 people per annum. Most tests were requested by endocrinology services. Testing increased over time from an average of 4.6 tests per annum in the first 5 years of the period studied to 17.7 tests in the most recent 5 years. Limitations include lack of ethnicity data, information on testing indications and testing rates for other familial PA subtypes. Conclusions: Testing for FH‐1 has increased over time but remains low. Testing for familial forms of PA should be considered in those in whom PA was diagnosed at a young age or with a suggestive family history. [ABSTRACT FROM AUTHOR]

Aim: Evidence suggests an association between maternal hypothyroidism and risk of attention‐deficit/hyperactivity disorder (ADHD) or autism spectrum disorder (ASD) in offspring. We examined the risk of ASD and ADHD in individuals with congenital hypothyroidism (CHT). Methods: A nationwide population‐based cohort study enrolled a total of 1260 children younger than 12 years with a confirmed diagnosis of CHT and no prior diagnosis of any neurodevelopmental disorders, selected from the National Health Insurance Research Database of Taiwan between 1998 to 2013. In addition, 12,600 controls matched for sex, age, and residence were selected. Cox proportional hazards analysis was used to investigate the association among CHT, ASD, and ADHD. Results: Children with CHT were associated with a higher incidence of ASD (7.1‰ vs 1.3‰, P < 0.001) and ADHD (39.7‰ vs 18.7‰, P < 0.001) than the control group. Cox regression analyses demonstrated that children with CHT were associated with elevated risks of ASD (hazard ratio [HR], 4.72 [95% confidence interval (CI), 2.08–10.70]) and ADHD (HR, 2.03 [95% CI, 1.49–2.77]), after adjusting for demographic data and family history of major psychiatric disorders, compared with the control group. Conclusion: Children with CHT were associated with approximately a two‐fold increased risk of ADHD and a four‐fold increased risk of ASD than the control group. Our study highlights the need for future research to elucidate the potential pathophysiology among CHD, ASD, and ADHD. [ABSTRACT FROM AUTHOR]

Background: Lynch syndrome (LS) is a hereditary cancer syndrome caused by pathogenic germline variants in mismatch repair (MMR) genes, which predisposes to various types of cancers showing deficient MMR (dMMR). Identification of LS probands is crucial to reduce cancer-related deaths in affected families. Although universal screening is recommended for colorectal and endometrial cancers, and age-restricted screening is proposed as an alternative, LS screening covering a broader spectrum of cancer types is needed. In the current study, we elucidated the rate of dMMR tumors and evaluated the outcome of LS screening in young-onset extra-colorectal LS-associated cancers. Methods: Immunohistochemistry for MMR proteins were retrospectively performed in a total of 309 tissue samples of endometrial, non-mucinous ovarian, gastric, urothelial, pancreatic, biliary tract, and adrenal cancers in patients < 50 years of age. Clinicopathological information and the results of genetic testing were obtained from medical charts. Results: There were 24 dMMR tumors (7.8%) including 18 endometrial, three ovarian, two urothelial, and one gastric cancer. Co-occurrence of colorectal cancer and family history of LS-associated cancers was significantly enriched in patients with dMMR tumors. Among the 16 patients with dMMR tumors who were informed of the immunohistochemistry results, five with endometrial and one with urothelial cancer were diagnosed as LS with positive pathogenic variants in MMR genes. Conclusions: We report the outcome of immunohistochemistry for MMR proteins performed in multiple types of young-onset extra-colorectal LS-associated cancers. Our study demonstrates the feasibility of a comprehensive LS screening program incorporating young-onset patients with various types of extra-colorectal LS-associated cancers. [ABSTRACT FROM AUTHOR]

Background: Offspring of parents with affective disorders (OAD) are at risk of developing a wide range of mental disorders. Deficits in the rearing environment and high levels of stress are well‐known risk factors for negative outcomes in OAD. Building on prior research, we aim to examine the longitudinal relationships between family dysfunction, stressful life events, and mental health in OAD and control offspring of parents with no affective disorder. In the present study, we hypothesized that high levels of family dysfunction would be associated with more internalizing and externalizing problems across time in OAD than in controls, and that family dysfunction would mediate the relationship between stressful life events in adolescence and poor mental health in adulthood, particularly in OAD. Methods: As part of the TRacking Adolescents' Lives Survey (TRAILS), 2230 participants (51% female, Mage = 11.1 years, SD = 0.6, at baseline) and their parents completed measures across six time points, spanning 15 years. Mental health, family dysfunction, and stressful life events were assessed with the Youth and Adult Self‐Report, Family Assessment Device, and an in‐house measure, respectively. Results: Multi‐group structured equation modeling revealed that family dysfunction was linked to internalizing and externalizing problems in OAD, but not controls, across time. Risk status did not moderate family dysfunction's mediation of the relationship between stressful life events and negative outcomes in adulthood. Conclusions: OAD show high sensitivity to dysfunction in the rearing environment across childhood and adolescence, which supports the use of family based interventions to prevent the development of mental disorders in high‐risk youth. [ABSTRACT FROM AUTHOR]

OBJECTIVE: To compare the prevalence of parental diabetes between children with and without type 1 diabetes (T1D), and to compare clinical characteristics at diagnosis of T1D in children with, versus without, a family history of diabetes. RESEARCH DESIGN AND METHODS: Parental diabetes among children with T1D was compared with a general population cohort. Clinical characteristics were compared by family history of diabetes in parents and grandparents of 3,603 children with T1D using relative risk (RR) and ANOVA. RESULTS: Children with T1D more often had parents with type 2 diabetes (T2D) (RR 1.88; P < 0.001) than did children without diabetes. Children with T1D and a family history of T2D were more likely to be overweight or obese (P = 0.002). CONCLUSIONS: A family history of T2D and being overweight may contribute to increased risk of T1D. [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]

Background: We aimed to study the impact of first-degree family history on patients with endometrial cancer. Methods: We conducted a retrospective chart review from January 1990 to June 2016, comparing stage I endometrial cancer patients with and without a sporadic family history of cancers. We collected the patients' demographic information, tumor characteristics, and treatment plans. During the follow-up period, patient information on tumor recurrence and survival was collected. The chi-square test was used to assess the associations between categorical variables. The Cox proportional hazards regression model was used to estimate multivariate-adjusted hazard ratios (95% confidence interval (CI)). Results: Among the 1737 patients with stage I endometrial cancer, 709 had a positive first-degree family history of cancers and 1028 had negative family history (FH) of cancers. Patients with positive FH were more likely to be older, have stage IB disease, and receive adjuvant radiotherapy; however, the difference was not statistically significant. At 5 years follow up, patients with a positive family history had longer time to recurrence (TTR) than their negative FH counterparts. Maternal family history of cancer was the most common, followed by a sister's history of cancer, paternal history, brother's history, and offspring history of cancer. Breast, endometrial, and colon cancers are the most common cancers among first-degree relatives. Conclusion: Endometrial cancer patients with sporadic first-degree FH of cancers share similar demographics and tumor characteristics compared to their counterpart with slightly increased likelihood to be older, with stage IB disease and have a longer TTR compared to their negative counterpart. [ABSTRACT FROM AUTHOR]

Aims: To analyse the concept of eating experiences in people living with dementia. Design: Rodgers' evolutionary method of concept analysis was used as a framework for the paper. Data Sources: The literature was searched using electronic databases PubMed, Google Scholar, CINHAL, PsycInfo, Web of Science, Embase and Elsevier databases. These databases cover a variety of disciplines, including but not limited to nursing, medicine and occupational therapy. The relevant literature published from 1989 to April 2023 was thoroughly examined. Any quantitative or qualitative studies published in English focused on eating or dining experiences in people with dementia were included. Review Methods: Rodgers' evolutionary method for concept analysis was used. The attributes, antecedents, consequences and case examples of the concept were identified. Results: Twenty‐two articles met the inclusion criteria, identifying key attributes of self‐connection, the special journey of life and self‐interpretation. Antecedents, as framed by the socio‐ecological model, were categorized to represent intrapersonal (personal preferences, individual culture, mealtime routines), interpersonal (social interaction) and environmental (dining room environment, policies) factors. Consequences were divided into external (nutritional health, physical health and quality of life) and internal (personhood, autonomy and independence, dignity and feeling valued and mental well‐being) domains. Conclusion: A theoretical definition and conceptual model of eating experiences in people living with dementia was developed. The identified attributes, antecedents and consequences can be utilized in nursing education, research and intervention approaches. Impact: This article allows nurses and other healthcare professionals to better understand people living with dementia through the relationship between eating and interpersonal, intrapersonal and environmental aspects to develop personalized interventions and care strategies to achieve an optimal quality of life. Patient or Public Contribution: Not applicable. [ABSTRACT FROM AUTHOR]

Background: We quantified relative and absolute risks of postpartum psychiatric episodes (PPE) following risk factors: Young age, past personal or family history of psychiatric disorders, and genetic liability. Methods: We conducted a register‐based study using the iPSYCH2012 case‐cohort sample. Exposures were personal history of psychiatric episodes prior to childbirth, being a young mother (giving birth before the age of 21.5 years), having a family history of psychiatric disorders, and a high (highest quartile) polygenic score (PGS) for major depression. PPE was defined within 12 months postpartum by prescription of psychotropic medication or in‐ and outpatient contact to a psychiatric facility. We included primiparous women born 1981–1999, giving birth before January 1st, 2016. We conducted Cox regression to calculate hazard ratios (HRs) of PPE, absolute risks were calculated using cumulative incidence functions. Results: We included 8174 primiparous women, and the estimated baseline PPE risk was 6.9% (95% CI 6.0%–7.8%, number of PPE cases: 2169). For young mothers with a personal and family history of psychiatric disorders, the absolute risk of PPE was 21.6% (95% CI 15.9%–27.8%). Adding information on high genetic liability to depression, the risk increased to 29.2% (95% CI 21.3%–38.4%) for PPE. Conclusions: Information on prior personal and family psychiatric episodes as well as age may assist in estimating a personalized risk of PPE. Furthermore, additional information on genetic liability could add even further to this risk assessment. [ABSTRACT FROM AUTHOR]

Background: Oral isotretinoin causes changes in serum lipid values. These changes are not seen in every patient, regardless of dose. It is unclear what causes these changes and how often serum lipid values should be followed up. Aims: We aimed to evaluate the relationship between the change in serum lipid values and personal and familial risk factors. Methods: Serum lipid values at baseline (0th), 1st, 3rd, and 6th months of isotretinoin treatment of acne patients aged 16 years and over using oral isotretinoin at a dose of 0.5-1 mg/kg/day between January 2017 and December 2019 were recorded retrospectively. The relationship between personal and familial risk factors and changes in serum lipid values were evaluated statistically. Results: In pairwise comparison, a significant difference was detected between the 0th and 1st month, 0th and 3rd month, 0th and 6th month, and 1st and 6th month in the average serum lipid (Low-density lipoprotein (LDL), high-density lipoprotein (HDL), very low-density lipoprotein (VLDL), total cholesterol, triglyceride) levels. However, no significant difference was detected between 3rd and 6th month. The change in LDL levels between the 0th and the 3rd month was significantly higher in those with a family history of atherosclerosis than those without a family history of atherosclerosis (p = 0.034). The change in VLDL levels between the 0th and 6th month was significantly higher in those with a family history of atherosclerosis than those without a family history of atherosclerosis (p = 0.022). It was observed that the changes in total cholesterol and VLDL levels between the 0th and 3rd month increased as body mass index (BMI) increased (p = 0.03, p = 0.014, respectively). Similarly, the changes in triglyceride and VLDL levels between 0th and 6th month and between 1st and 6th month increased by an increase in BMI (respectively; p = 0.006, p = 0.019; p = 0.016, p = 0.022). The increase in the levels of VLDL between the 1st and the 6th month was found to be significantly higher in smokers than in non-smokers (p = 0,032). Conclusion: We recommend evaluation of serum lipids values in the 0th, 1st, and 3rd month in all acne patients using oral isotretinoin and that these values have to be checked monthly in the following months for smokers, those with a history of atherosclerosis, and those with a BMI above normal. [ABSTRACT FROM AUTHOR]

Background Before the coronavirus disease 2019 (COVID-19) pandemic, telehealth was rarely used for breast cancer management at tertiary care centers. We sought to examine patient satisfaction, experiences, preferences, and perceived effectiveness and technical quality of telehealth visits in follow-up patients receiving routine outpatient care in the breast medical oncology practice at The University of Texas MD Anderson Cancer Center. Methods We administered a survey to 60 follow-up patients for a duration of 9 months (January 5, 2021 to October 27, 2021) who had at least one telehealth consultation during the COVID-19 pandemic, from April 10, 2020 to October 21, 2021. Descriptive statistics were then generated for each question, each domain, and overall survey scores. Subgroup comparisons within patient populations were done using the chi-square or t -test when appropriate. Results Among the 60 participants, 49 (82%) were undergoing standard follow-up during active treatment for either early-stage or metastatic breast cancer. Telehealth and in-person office visits were considered equivalent in terms of quality of communication by 43 participants (72%). Most participants (n  = 49, 82%) felt equally cared for during telehealth and in-person visits, and 40 participants (67%) reported feeling connected to their healthcare professional during both telehealth and in-person visits. In addition, 28 participants (47%) felt that the duration of telehealth visits was similar to in-person visits, 46 (77%) found both telehealth and in-person visits equally comfortable for discussing sensitive topics, 39 (65%) considered telehealth visits convenient, and 42 (70%) perceived the overall quality of care for telehealth to be similar to that of in-person visits. Participants expressed high satisfaction with telehealth appointments, with 42 (70%) rating their experience as very satisfying. Most participants (n  = 44, 73%) expressed a strong likelihood of participating in telehealth appointments for breast cancer follow-up care in the future. Conclusions Our results indicate that telehealth can serve as an effective and satisfactory approach for delivering healthcare services to patients with breast cancer requiring follow-up care. The positive experiences and willingness to continue using telehealth indicate its potential for improving access to care and patient outcomes. [ABSTRACT FROM AUTHOR]

Bipolar disorder has become one of the major mental health issues due to stressed life around the world. This is the major reason for suicides these days as these people are unable to convey their feeling and emotions to others. This proposed research shows the logistic regression and support vector machine hybrid model to predict bipolar disorder in patients is to develop an accurate and reliable model that can effectively predict the presence of bipolar disorder in patients based on their clinical and demographic data. The purpose is to make a framework that can help healthcare professionals diagnose bipolar disorder early, thereby enabling timely and appropriate treatment to be provided. The model should take into account various patient-specific features, such as age, gender, family history, medication use, and other medical conditions, in addition to relevant clinical and demographic variables. The aim is to create a model that can accurately classify patients with bipolar disorder and non-bipolar disorder patients while minimizing false-positive and false-negative classifications. The work shows improvement in evaluation detection in performance with hybrid logistic support vector regression (LSVR) to detect disorder and protect them to avoid worse situation. [ABSTRACT FROM AUTHOR]

Background & Objective: The routine approach to fibroadenomas in the BI-RADS 3 category consists of follow-up at brief intervals and biopsy is usually forborne. Nevertheless, there is some evidence implying a link between this benign mass and breast cancer. The present study was performed with aim to investigate the accuracy of the Gail model for assessing the risk of breast malignancy in women suffering from fibroadenoma. Materials & Methods: This diagnostic accuracy study was conducted at the Surgery Clinic of Shahid Rahimi Hospital in Khorramabad, Iran, in 2020-2021. A total of 160 women aged >35 years who had a breast fibroadenoma in the BI-RADS 3 category were included. The Gail questionnaire was utilized to estimate the risk of developing breast cancer. The patients with a Gail score ≥1.67 underwent biopsy, while those with a Gail score of <1.67 were followed up for 3 months. Then, the baseline and follow-up findings of the patients were collected and compared. Results: The mean age of the patients was 40.87 ± 6.08 years. No cases of breast cancer were found in the low-risk group who were followed up or in the high-risk group who underwent biopsy. Higher age, a positive history of breast malignancy in first-degree family members, and a personal history of breast biopsy were significantly associated with a higher Gail score (P<0.001). Conclusion: For patients with fibroadenoma in BI-RADS 3 category, a high Gail score does not justify performing a breast biopsy. Therefore, follow-up in brief intervals is safe and invasive interventions should be avoided. [ABSTRACT FROM AUTHOR]

There is a lack of evidence from cohort studies on the causal association of long‐term exposure to ambient fine particulate matter (PM2.5) and its chemical components with the risk of nasopharyngeal carcinoma (NPC) recurrence. Based on a 10‐year prospective cohort of 1184 newly diagnosed NPC patients, we comprehensively evaluated the potential causal links of ambient PM2.5 and its chemical components including black carbon (BC), organic matter (OM), sulfate (SO42−), nitrate (NO3−), and ammonium (NH4+) with the recurrence risk of NPC using a marginal structural Cox model adjusted with inverse probability weighting. We observed 291 NPC patients experiencing recurrence during the 10‐year follow‐up and estimated a 33% increased risk of NPC recurrence (hazard ratio [HR]: 1.33, 95% confidence interval [CI]: 1.02–1.74) following each interquartile range (IQR) increase in PM2.5 exposure. Each IQR increment in BC, NH4+, OM, NO3−, and SO42− was associated with HRs of 1.36 (95%CI: 1.13–1.65), 1.35 (95%CI: 1.07–1.70), 1.33 (95%CI: 1.11–1.59), 1.32 (95%CI: 1.06–1.64), 1.31 (95%CI: 1.08–1.57). The elderly, patients with no family history of cancer, no smoking history, no drinking history, and those with severe conditions may exhibit a greater likelihood of NPC recurrence following exposure to PM2.5 and its chemical components. Additionally, the effect estimates of the five components are greater among patients who were exposed to high concentration than in the full cohort of patients. Our study provides solid evidence for a potential relationship between long‐term exposure to PM2.5 and its components and the risk of NPC recurrence. [ABSTRACT FROM AUTHOR]

To determine the preoperative detection of signet ring cancer cells (SRC) on upper endoscopy (EGD) in patients with CDH1 pathogenic variant (PV) undergoing gastrectomy. To evaluate the development of advanced diffuse gastric cancer (DGC) in patients choosing surveillance. Guidelines recommend prophylactic total gastrectomy (pTG) in CDH1 PV carriers with family history of DGC between 18 and 40 years. Annual EGD with biopsies according to established protocols is recommended in carriers with no SRC and no family history of DGC, with consideration of pTG. Retrospective analysis of asymptomatic patients with CDH1 PVs with ≥ 1 surveillance EGD. Outcomes included pre-operative EGD detection of SRC, surgical stage, and progression to advanced DGC in those electing surveillance with EGD. 48 patients with CDH1 PVs who had ≥ 1 EGD were included. 24/ 48 (50%) underwent gastrectomy, including pTG in 7 patients. SRCC were detected on gastrectomy specimen in 21/24 (87.5%). SRCs were identified by EGD in 17/21 patients who had SRCC on gastrectomy specimens (sensitivity 81%, 17/21). All cancers were stage pT1a. The remaining 17 patients (50% with a family history of gastric cancer) continue in annual EGD surveillance with a median follow-up of 34.6 months. No SRCC or advanced DGC have been diagnosed. No CDH1 PV carriers without SRCC on random biopsies followed in an endoscopic program developed advanced DGC over a median follow up of 3 years. In the short term, EGD surveillance might be a safe alternative to immediate pTG in experienced hands in referral centers. [ABSTRACT FROM AUTHOR]

Family-history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Prevention and Early Detection (SPED). The online patient-facing cancer Family History Questionnaire Service (cFHQS) is a digitalised, resource efficient tool for family history data capture to facilitate this. The capturing of digital data from cFHQS allows for data interrogation of patients referred to Clinical Genetics for the purposes of service improvement. Digital data from 4,044 cFHQS respondents over a three-year period was collected and interrogated with respect to the number and type of familial tumour diagnoses to enable service improvement and streamlining of referral pathways. 81% of colorectal and 71% of breast screening assessments were population- or moderate-risk. Most patients who completed cFHQS reported more than one diagnosis of cancer/tumour/polyps in their family. 2.5% of family history assessment patients had a second indication that required assessment that would have been missed if single tumour type assessment was undertaken. Implementation of an innovative, digital family history data collection pathway has allowed large scale interrogation of referral patterns and assessment outcomes to enable service development. The high volume of inappropriate referrals to Clinical Genetics for population and moderate risk patients highlighted the need for dedicated secondary care pathway provision for these patients. The use of cFHQS streamlined family history assessment allows for redistribution of resources to improve equity and access to genetic cancer risk assessment. [ABSTRACT FROM AUTHOR]

Background: Isolated growth hormone deficiency type II (IGHD II) is an autosomal dominant disorder characterized by a GH1 gene variant resulting in a significant reduction in growth hormone (GH) secretion and a subsequent decrease of plasma insulin-like growth factor 1 (IGF-1) levels and eventual growth impairment. Objective: This study aimed to identify causative variants in six Chinese families with IGHD II, exploring both clinical and genetic characteristics. Methods: Detailed clinical data, including clinical presentations, physical charateristics, medical and family histories, as well as genetic test results, were systematically examined. Results: Six children, comprising four males and two females, with a mean age of 4.64 ± 1.15 years, exhibited short stature with a mean height of -3.95 ± 1.41 SDS. Four of them had a family history of short stature, while one patient presented with pulmonary hypertension. All children demonstrated GH deficiency in growth hormone stimulation tests (mean peak GH value: 2.83 ± 2.46 ng/mL). Exome sequencing for the six patients and targeted gene sequencing for their family members revealed heterozygous variants in the GH1 gene, including Exon2-5del, c.334T>C, c.291 + 1G>A, c.291 + 2T>A, 1.5 kb deletion, and 1.7 kb deletion, with four variants being novel. Four patients underwent human recombinant growth hormone (rhGH) replacement therapy, initiating treatment at a mean age of 4.6 ± 0.7 years. The mean height increase in patients was 1.21 ± 0.3 SDS in the first six months of treatment and 1.79 ± 0.15 SDS in the first year. Conclusion: Our findings contribute to expanding the genotypic and phenotypic spectra of individuals with IGHD II. [ABSTRACT FROM AUTHOR]

The impact of non-motor symptoms is often overlooked in favour of the motor symptoms when managing Parkinson's disease resulting in suboptimal patient outcomes. This study aimed to characterise the non-motor symptoms of Parkinson's disease in a cohort of Sri Lankan patients with a special focus on the impulsive control disorders and other compulsive behaviours (ICDs-CB) that had not been previously studied in this population. All patients with idiopathic Parkinson's disease followed up at the National Hospital of Colombo, Sri Lanka were included. The presence or absence of non-motor symptoms and their perceived impact was recorded with an interviewer administered questionnaire. Symptoms of anxiety and depression were assessed with Hamilton Anxiety and Depression scales. Presence of ICDs-CB was assessed with the questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease. Of 192 patients 97% (186) reported at least 2 non-motor symptoms. About 83% (160/192) screened positive for anxiety, 40% (76/192) for depression, and 17% (32/192) for an ICDs-CB. A lower Barthel index, history of past psychiatric disorders and family history of alcohol abuse were independent predictors of ICDs-DB. Managing both motor and non-motor symptoms are important to preserve the quality of life of patients with Parkinson's disease. They should be screened for symptoms for anxiety and depression regularly during follow up and educated about the possibility of ICDs-CB soon after diagnosis. [ABSTRACT FROM AUTHOR]

Background: Food allergy affects 1%–10% of children under five worldwide, with genetic and early‐life factors playing a primary role. Reported factors include a family history of allergic diseases, personal atopic dermatitis, cesarean section, dietary restrictions during pregnancy and lactation, and the timing of introducing solid foods. This study was aimed at identifying various factors associated with food allergy and evaluate each food allergy's clinical features. Methods: We conducted a case–control study with a participant ratio of 1:2 between cases and controls. Data were gathered from both groups of participants, and questionnaires included living area, sex, and natal history (birth details, maternal diet during pregnancy and breastfeeding, feeding history during infancy, family history of atopic diseases, and household smoking). Results: All 72 cases with food allergy and 145 controls were included in the study. Term birth comprised a protective factor for developing food allergy (adjusted odds ratio [aOR] 0.213, p value 0.022). In contrast, personal atopic dermatitis (aOR 20.097, p value 0.001) and a family history of allergic disease constituted risks (aOR 3.183, p value 0.002). Food allergy was unrelated to cesarean section, low birth weight, dietary restrictions during lactation and pregnancy, exclusive breastfeeding, or the early introduction of complementary foods. The three most common food allergens were egg white (40.2%), wheat (34.7%), and cow's milk (30.5%), respectively. Conclusions: In this study, risk factors associated with food allergy comprised a personal history of atopic dermatitis and a family allergic disease, which may be used as predictive factors for developing food allergy among Thai children. [ABSTRACT FROM AUTHOR]

Background: The prevalence of supernumerary teeth is increasing in modern dental practice. However, the presence of multiple supernumerary teeth should be further investigated. Proper diagnosis of an underlying syndrome might save the patient from future health hazards through early diagnosis and optimal follow‐up screening. Case Presentation: A 13‐year‐old female patient presented with multiple retained deciduous teeth and delayed eruption of permanent teeth. Although the medical and family history of the patient did not raise any concerns, the clinical and radiographic examinations yielded intriguing findings. The patient presented with a total of 11 supernumerary teeth, which impeded the normal eruption of permanent dentition in addition to the presence of retained deciduous teeth. Additional clinical and laboratory investigations were conducted in response to the case's complexity, resulting in the diagnosis of Trichorhinophalangeal Syndrome (TRPS) Type I. The patient underwent a precise treatment plan and then was followed up for 6 months postoperatively to monitor the eruptive movement of the permanent teeth. Conclusion: When a syndrome is the underlying cause, monitoring unusual cases, such as those with multiple supernumerary teeth, can be lifesaving or aid in the early diagnosis of more serious complications. [ABSTRACT FROM AUTHOR]

Background: Traditional cardiovascular disease risk prediction models generate a combined risk assessment for myocardial infarction (MI) and ischemic stroke (IS), which may inadequately reflect the distinct etiologies and disparate risk factors of MI and IS. We aim to develop prediction models that separately estimate the risks of MI and IS. Methods: Our analysis included 6,242,404 individuals over 40 years old who participated in a cardiovascular health screening examination in 2009. Potential predictors were selected based on a literature review and the available data. Cox proportional hazards models were used to construct 5-year risk prediction models for MI, and IS. Model performance was assessed through discrimination and calibration. Results: During a follow-up of 39,322,434.39 person-years, 89,140 individuals were diagnosed with MI and 116,259 with IS. Both models included age, sex, body mass index, smoking, alcohol consumption, physical activity, diabetes, hypertension, dyslipidemia, chronic kidney disease, and family history. Statin use was factored into the classification of dyslipidemia. The c-indices for the prediction models were 0.709 (0.707–0.712) for MI, and 0.770 (0.768–0.772) for IS. Age and hypertension exhibited a more pronounced effect on IS risk prediction than MI, whereas smoking, body mass index, dyslipidemia, and chronic kidney disease showed the opposite effect. The models calibrated well for low-risk individuals. Conclusions: Our findings underscore the necessity of tailored risk assessments for MI and IS to facilitate the early detection and accurate identification of heterogeneous at-risk populations for atherosclerotic cardiovascular disease. [ABSTRACT FROM AUTHOR]

Objective: To investigate the structural abnormalities, genetic results, and postnatal clinical outcomes of fetuses with bovine aortic arch (Bovine Aortic Arch, BAA) to provide a basis for prenatal counseling and management. Methods: A retrospective analysis was conducted on 216 fetuses diagnosed with bovine aortic arch through prenatal ultrasound screening at the First Affiliated Hospital of Anhui Medical University and the No.901 Hospital of the Joint Service of the People's Liberation Army from January 2019 to February 2023. Their family history of genetic diseases, prenatal screening results, and postnatal follow-up data were collected. The fetuses were divided into an isolated BAA group (n = 192) and a non-isolated BAA group (n = 24). Chromosomal karyotyping and copy number variation (CNV) testing were conducted, and statistical analysis was performed using SPSS 22.0 software. Results: Of the 216 fetuses with BAA, 192 were isolated BAA (88.89%), and 24 were non-isolated BAA (11.11%). Among the isolated BAA fetuses, only 1 case (0.52%) had chromosomal karyotype and pathogenic CNV abnormalities. Among the non-isolated BAA fetuses, 4 cases (16.67%) had chromosomal or CNV abnormalities, but the overall risk was low. The postnatal outcomes of isolated BAA fetuses were good (99.48%), while 79.17% of non-isolated BAA fetuses had good postnatal outcomes. Conclusion: Most BAA fetuses are isolated, with a very low incidence of chromosomal abnormalities and pathogenic CNVs, and have good postnatal outcomes. The clinical value of isolated BAA is limited, and invasive prenatal diagnosis is not recommended for low-risk populations. Prenatal screening should focus on the risk of concurrent severe structural anomalies and chromosomal abnormalities. [ABSTRACT FROM AUTHOR]

Background: Glycogen storage disease type 5 (McArdle disease) leads to a deficiency in the activity of myophosphorylase resulting in an impaired glucose utilization. The disease can be caused by a variety of mutations in the PYGM gene, and its typical clinical manifestation is muscles weakness within the first three decades of life. Case presentation: In this case report we present the diagnostic work-up of a physically active 78-year-old Caucasian patient suffering from a 2-year history of progressive camptocormia including clinical, radiologic, histological, and genetic tests. There was no history of neuro-muscular diseases in the family. Serum CK levels were moderately increased while other blood/urine parameters were normal. Magnetic resonance imaging showed fatty remodeling of the muscles of the back. Histochemical examination of a muscle biopsy revealed the absence of myophosphorylase activity, while gene analysis identified a known early-onset McArdle mutation in the PYGM gene. Conclusion: This case highlights that the clinical spectrum of PYGM gene mutation typically manifest during adolescence, but it is also a differential diagnosis in late onset muscle disorders and emphases the investigation of the role of ACE inhibitors in this disease. [ABSTRACT FROM AUTHOR]

Although several studies have examined a diagnostic conversion from major depressive disorder (MDD) to bipolar disorder (BD), only a few studies specifically focused on adolescents and young adults who are at the peak ages of BD onset. Data from participants (N = 130,793) aged 10–29 years who were diagnosed with MDD were extracted from the Taiwan National Health Insurance Research Database. We applied demographic analyses, survival analysis, Aalen Johansen curves, and Cox regression, investigating the diagnostic conversion rate and factors that were most or less predictive of conversion. Among the adolescents and young adults with MDD, the number of participant conversion subsample is 14,187 and the conversion rate was 13.80% (95% confidence interval: 13.54–14.06%) during the 11-year follow-up. The conversion rate was highest in the first year (4.50%; 4.39–4.61%) and decreased over time. The significant predictors were younger age of diagnosis with MDD (p < 0.001), moderate and high antidepressant resistance (p < 0.001), obesity (p < 0.001), psychiatric comorbidities (attention-deficit/hyperactivity disorder, substance use disorder, and cluster B and C personality disorder, all p < 0.001), a family history of mental disorders (schizophrenia and mood disorders, all p < 0.05), lower monthly income (p < 0.001), and more mental health visits to the clinic each year (p < 0.001). A composite of demographic characteristics, antidepressant resistance, physical and psychiatric comorbidities, and family history significantly predicted diagnostic conversion from MDD to BD (area under the curve = 0.795, p < 0.001). Compared to adult population, the adolescents and young adults had different factors that were most or less predictive of conversion, which warrants further investigation. [ABSTRACT FROM AUTHOR]

The article describes the case of a 19-month-old male with bilateral microphthalmia and left coloboma of the iris evaluated in the outpatient Genetics Clinic. Topics discussed include a strong family history of psychiatric and neurodevelopmental disorders in the maternal lineage, genetic causes of colobomas and microphthalmias, and a published report of a patient with a 16p13.11 duplication and coloboma.

Background: This study aims to investigate the frequency of familial relationships and genetic predispositions to kidney disease, analyzing their correlation with chronic kidney disease (CKD). Methods: This observational study included individuals aged 18-70 years (at the time of this study) from October 2009 to 2015. 2576 patients with diverse kidney diseases [mean age: 47 ± 16 years; 1455 men (56.5%)], were compared with 853 healthy individuals with an employed questionnaire. Variables such as siblings, familial kidney disease history, consanguineous marriage, etiology of CKD, age at the time of the study, and diagnosis were compared between groups. Results: Parental consanguinity frequency was similar between groups [n = 174 (6.8%) in the patient group vs. n = 74 (8.7%) in the control group, P = .06]. Kidney disease due to family history was significantly higher in the patient group than in the control group (466 [18.1%] vs. 72 [8.4%], P < .001). Parental consanguinity frequency was notably higher in patients with congenital anomalies of the kidney and urinary tract (CAKUT) (n = 31/234; 13.2%) and vesicoureteral reflux (VUR) nephropathy (n = 27/131, 20.5%) compared to controls (8.7%) (P = .036 and P < .001, respectively). Multivariate analysis indicated that predictors of parental consanguinity were kidney disease due to family history (OR: 5.712; 95% CI, 4.136-7.890; P < .001), age at kidney disease diagnosis (OR: 0.968; 95% CI, 0.957-0.979; P < .001), and kidney disease replacement therapy (OR: 1.441; 95% CI, 1.020-2.038; P = .038). Conclusion: The CAKUT and VUR nephropathy risks are increased in consanguineous marriages. Patients with parental consanguinity develop the disease earlier and face a higher risk of kidney failure requiring replacement therapy. Consanguineous marriage might impact the severity of kidney diseases. [ABSTRACT FROM AUTHOR]

According to the Centers for Disease Control and Prevention (CDC), 100,306 drug overdose deaths occurred in the US during a 12-month period ending in April 2021. Opioids were involved in 75% of these related deaths. Opioid Use Disorder (OUD) is a constantly evolving public health crisis with potentially lethal consequences. In 2017, 900 adolescents began to misuse opioids every day. Nearly 10% of high school seniors reported using opioids nonmedically. Additionally, the incidence for hospitalizations for adolescents among children 1-19 years of age increased nearly 2-fold from 1997 to 2012. This data emphasizes the dangers associated with the increasing accessibility of pharmaceutical and non-pharmaceutical opioids, particularly for adolescents. All three of the currently FDA approved medications for OUD have shown clear efficacy in decreasing all-cause mortality in adults. It is proposed that the same effects should be seen in adolescents but limited data is present. A recent study analyzed buprenorphine and naltrexone treatment amongst OUD in adolescents between 2001-2014; only 1 in 4 youth received any medication therapy within six months of diagnosis. Adolescents under 16 were the most likely to receive medications. However, even adolescents aged 17, for whom buprenorphine is FDA approved for, were less likely to receive therapy than adults over 18 years of age. The following case report aims to demonstrate how subcutaneous extended release buprenorphine treatment can be initiated effectively as an outpatient in an adolescent with OUD. It is critical that clinicians work to expand access to pharmacotherapy for adolescents struggling with OUD to ensure proper management and reduction of opioid-related overdoses. [ABSTRACT FROM AUTHOR]

Background: Alterations in EEG activity have been considered valid endophenotypes of substance use disorders (SUDs). Empirical evidence has supported the association between genetic factors (e.g., genes, single nucleotide polymorphisms [SNPs]) and SUDs, considering both clinical samples and individuals with a positive family history of SUDs [F+SUD]). Nevertheless, the relationship between genetic factors and intermediate phenotypes (i.e., altered EEG activity) among individuals with SUD phenotypes remains unclear. Objective(s): The current study aims at summarizing genetic factors linked to aberrant EEG activity among individuals with SUDs and those with F+SUD. Methods: Sixteen studies (5 [N = 986] + 11 from the Collaborative Studies On Genetics of Alcoholism [COGA] sample [432 ≤ N ≤ 8810]) were included for a qualitative systematic review. Thirteen studies (5 + 8 studies from the COGA sample) were used for multi-level meta-analytic procedures. Results: Qualitative analyses highlighted a multivariate genetic architecture linked to alterations in EEG waves among individuals with SUD phenotypes (i.e., augmented resting-state beta waves; reduced resting-state alpha waves; reduced resting-state and task-dependent theta waves). The most recurrent genetic factors were involved in cellular energy homeostasis, modulation of inhibitory and excitatory neural activity together with neural cell growth. Meta-analytic results showed a moderate association between genetic factors and altered resting-state and task-dependent EEG activity. Meta-analytic results also suggested non-additive genetic effects on altered EEG activity. Conclusions: Complex genetic interactions mediating neural activity and brain development might constitute a causal pathway toward intermediate phenotypes associated with phenotypic features, which in turn are linked to SUDs. [ABSTRACT FROM AUTHOR]

Family history for CAD (coronary artery disease) is an established cardiovascular (CV) risk factor and it is progressively acquiring importance in patients' CV risk stratification. Numerous studies have demonstrated that individuals with a first-degree relative affected by CAD have a significantly higher risk of developing the condition themselves; in particular, when CAD occurs at an early age in relatives. Indeed, recently published CCS (chronic coronary syndrome) ESC (European Society of Cardiology) guidelines include family history (FH) as a risk factor to consider when calculating pre-test risk for CAD. ESC guidelines on preventive cardiology (2021) only suggested CV risk assessment in the presence of a positive FH for CV disease, not considering it in the actual risk scores. Evidence suggests that positive anamnesis for relatives affected by CAD correlates with ACS (acute coronary syndrome) and CAD, with slight differences in relative risk as far as the degree of kinship is concerned. Genetic factors contribute to this correlation by influencing key processes that affect heart health, such as cholesterol metabolism, blood pressure regulation, and inflammatory responses. New technologies in the genetics field are increasing the availability of genome sequencing, and new polymorphism panels are being tested as predictive for CAD, objectifying familiarity. Advances in imaging techniques allow the assessment of coronary atherosclerosis and its composition, and these are acquiring strength in evidence and recommendations in ESC guidelines as a way to define coronary disease in low and low-to-intermediate risk patients and to guide medical therapy and interventional procedures. Use of these emerging tools to guide screening is likely to be extended, beyond high CV risk patients, to individuals with FH for early CAD and/or specific genetic profiles, as recent evidence in the literature is suggesting. [ABSTRACT FROM AUTHOR]

Objective: To find out the usefulness of bone scan in all stages of breast cancer. Study Design: Prospective Observation Study. Setting: Surgical Unit I & III Ghulam Muhammad Mahar Medical College Hospital, Sukkur. Period: October 2020 till September 2022. Methods: A total of 300 patients were selected who were newly diagnosed with breast cancer (Biopsy Proven). Data was collected for all these patients which included age, risk factors for breast cancer, findings on local examination, histopathology findings, stage of the cancer and result of the bone scan. Results: In our study, 78% patients were in 4th and 5th decade of life with mean age of 53.46±7.66 years. 'Age above 40' was the commonest risk factor for breast cancer followed by positive family history for breast cancer. Tumor size ranged from 2 to 13.2 cm with mean size of 6.06±1.92 cm. In our study, most common type of carcinoma was invasive ductal carcinoma (71.3%) followed by invasive lobar carcinoma (50%). Only 32 (10.67%) out of 300 patients had positive bone scan. Majority of the bone scan positive cases belonged to the Stage IIIB, IIIC and IV. Conclusion: It is concluded in our study that routine use of bone scan in cases of stage 1 and 2 breast cancer is not recommended; only stage 3A or advances cases should undergo bone scan. [ABSTRACT FROM AUTHOR]

Aim: Children of parents with psychiatric illness have a higher risk of developing psychiatric disorders. This is particularly the case for psychoses and the evolution of these disorders could likely differ. The aim of this study was to study the impact of a first‐degree and second‐degree family history of psychiatric disorders (FHPD) on the characteristics of patients with early psychosis in a specialized programme. Method: This research is a prospective study based on 408 patients aged 18–35 years enrolled in the Treatment and Early Intervention in Psychosis Program (TIPP) with a three‐years follow‐up. Various characteristics were compared between patients with first‐degree‐FHPD and those without, then between patients with 2nd degree‐FHPD and those without. The influence of the number of parents with first or second degree FHPD on clinical characteristics was also studied. Results: Our results showed an influence of FHPD on the characteristics of patients presenting a first episode of psychosis. Over the 3 years of follow‐up, patients with at least one second‐degree relative showed more negative and depressive symptoms and poorer general functioning than patient who did not. The number of parents with first or second degree FHPD was also negatively associated with several clinical variables. Conclusion: The results of this study confirm the existence of a distinct premorbid profile and a different evolution in patients with FHPD, which is not limited to first‐degree relatives. This suggests the importance of specific needs that should be addressed during treatment. [ABSTRACT FROM AUTHOR]

Background: Pericardial cysts, though rare and benign, can present with various clinical symptoms depending on their size and location in the body. The detection of these cysts typically relies on imaging studies for a conclusive diagnosis, with surgical removal being the definitive treatment. Case presentation: This case report details the clinical journey of a 32-year-old Iranian woman with a family history of breast and lung cancer, who experienced left-sided chest pain. Utilizing a combination of clinical history review, mammography, echocardiography, and computed tomography, a precise diagnosis of a 10 cm × 3.5 cm pericardial cyst was achieved. The patient underwent median sternotomy for complete cyst excision. Conclusions: While pericardial cysts are often asymptomatic and benign, they can lead to life-threatening complications. Hence, regular follow-up is advised, and in certain instances, minimally invasive interventions or surgery may be necessary. [ABSTRACT FROM AUTHOR]

Objective: To develop machine learning models using patient and migraine features that can predict treatment responses to commonly used migraine preventive medications. Background: Currently, there is no accurate way to predict response to migraine preventive medications, and the standard trial‐and‐error approach is inefficient. Methods: In this cohort study, we analyzed data from the Mayo Clinic Headache database prospectively collected from 2001 to December 2023. Adult patients with migraine completed questionnaires during their initial headache consultation to record detailed clinical features and then at each follow‐up to track preventive medication changes and monthly headache days. We included patients treated with at least one of the following migraine preventive medications: topiramate, beta‐blockers (propranolol, metoprolol, atenolol, nadolol, timolol), tricyclic antidepressants (amitriptyline, nortriptyline), verapamil, gabapentin, onabotulinumtoxinA, and calcitonin gene‐related peptide (CGRP) monoclonal antibodies (mAbs) (erenumab, fremanezumab, galcanezumab, eptinezumab). We pre‐trained a deep neural network, "TabNet," using 145 variables, then employed TabNet‐embedded data to construct prediction models for each medication to predict binary outcomes (responder vs. non‐responder). A treatment responder was defined as having at least a 30% reduction in monthly headache days from baseline. All model performances were evaluated, and metrics were reported in the held‐out test set (train 85%, test 15%). SHapley Additive exPlanations (SHAP) were conducted to determine variable importance. Results: Our final analysis included 4260 patients. The responder rate for each medication ranged from 28.7% to 34.9%, and the mean time to treatment outcome for each medication ranged from 151.3 to 209.5 days. The CGRP mAb prediction model achieved a high area under the receiver operating characteristics curve (AUC) of 0.825 (95% confidence interval [CI] 0.726, 0.920) and an accuracy of 0.80 (95% CI 0.70, 0.88). The AUCs of prediction models for beta‐blockers, tricyclic antidepressants, topiramate, verapamil, gabapentin, and onabotulinumtoxinA were: 0.664 (95% CI 0.579, 0.745), 0.611 (95% CI 0.562, 0.682), 0.605 (95% CI 0.520, 0.688), 0.673 (95% CI 0.569, 0.724), 0.628 (0.533, 0.661), and 0.581 (95% CI 0.550, 0.632), respectively. Baseline monthly headache days, age, body mass index (BMI), duration of migraine attacks, responses to previous medication trials, cranial autonomic symptoms, family history of headache, and migraine attack triggers were among the most important variables across all models. A variable could have different contributions; for example, lower BMI predicts responsiveness to CGRP mAbs and beta‐blockers, while higher BMI predicts responsiveness to onabotulinumtoxinA, topiramate, and gabapentin. Conclusion: We developed an accurate prediction model for CGRP mAbs treatment response, leveraging detailed migraine features gathered from a headache questionnaire before starting treatment. Employing the same methods, the model performances for other medications were less impressive, though similar to the machine learning models reported in the literature for other diseases. This may be due to CGRP mAbs being migraine‐specific. Incorporating medical comorbidities, genomic, and imaging factors might enhance the model performance. We demonstrated that migraine characteristics are important in predicting treatment responses and identified the most crucial predictors for each of the seven types of preventive medications. Our results suggest that precision migraine treatment is feasible. Plain Language Summary: Currently, there is no way to predict whether preventive medications, which are medications that may reduce the frequency and severity of headaches, will be helpful to all patients. We used novel artificial intelligence techniques and developed effective tools that can predict how a patient responds to seven different types of migraine preventive medications before the medication is started. We also found that the ways in which patients describe their headache and the types of symptoms they have is important to predict whether the medication will work. [ABSTRACT FROM AUTHOR]

The article reviews the evaluation of pediatric syncope in the emergency department, emphasizing that while most cases are benign, there are critical, potentially life-threatening causes that must not be overlooked. Topics discussed include common causes like vasovagal syncope, the differential diagnosis of loss of consciousness, and the importance of identifying cardiac-related etiologies in children.

Introduction: In addition to sensorineural hearing loss, Waardenburg Syndrome (WS) may present with variable pigmentation of skin and choroid, which may simulate other life-threating conditions (e.g. melanoma). Case Report: Two siblings ostensibly presented with unilateral choroidal pigmentary abnormalities concerning for choroidal tumour. Serial ophthalmic examination documented no lesion growth (base or height) whilst the apparent syndromic features (i.e. iris hypochromia, profound sensorineural hearing loss, SNHL), family history (autosomal dominant inheritance) and positive genetic testing (pathogenic MITF variant) led to a revised diagnosis of Waardenburg Syndrome type 2A. Conclusion: Sectoral preservation of choroidal pigmentation in WS is rarely associated with choroidal malignancy. Awareness of syndromic features (e.g. SNHL) and access to genetic testing may facilitate early accurate diagnosis (i.e. allay concern for malignancy), enable treatment of modifiable features (e.g. SNHL) and identify other affected relatives. [ABSTRACT FROM AUTHOR]

Background: Breast cancer is the most frequent female malignancy in the UK. Around 20% of cases are linked to weight gain, excess weight and health behaviours. We designed a weight gain prevention, health behaviour intervention for young women at increased risk. Methods: The study comprised a single arm observational study over 2 months testing acceptability and usability of the intervention: online group welcome event, app and private Facebook group. Females aged 18–35 years at moderate or high risk of breast cancer (>17% lifetime risk) were recruited via invite letters and social media posts. The app included behaviour change techniques and education content. Online questionnaires were completed at baseline, as well as at 1 and 2 months. We also assessed feasibility of study procedures. Results: Both recruitment methods were successful. Thirty‐five women were recruited, 26% via social media posts. Median age was 33 (interquartile range = 28.2–34.5) years, the majority (94.1%) were of White ethnicity. Thirty‐four participants were included in the analyses, of which 94% downloaded the app. Median self‐monitoring logs per participant during the study period was 10.0 (interquartile range = 4.8–28.8). App quality mean (SD) score was 3.7 (0.6) at 1 and 2 months (scale: 1–5). Eighty‐nine per cent rated the app at average or above at 1 month and 75.0% at 2 months. Nineteen women (55.9%) joined the Facebook group and there were 61 comments and 83 reactions and votes from participants during the study period. Conclusions: This first iteration of the app and intervention was well received and is suitable to progress to the next stage of refining and further testing. Highlights: The newly developed intervention that focused on weight gain prevention and health behaviour change was tested in young women at increased risk of breast cancer and was well‐received by the target population.Both recruitment methods, by mailshot and social media, were successful.The study was unable to recruit and ethnically diverse population.Future research should retest the intervention in a larger population, after making refinements. [ABSTRACT FROM AUTHOR]

Coronary artery stenosis is often advanced by the time coronary computed tomography angiography (CCTA). Statins are the most important anti-lipidemic medication for improving the prognosis of coronary artery disease (CAD) patients. Although lipid-lowering therapy using statins appears to have been established as a method for preventing CAD, there remains the problem that CAD cannot be completely suppressed. In this study, we investigated whether pre-treatment with statin could significantly inhibit the onset of CAD when patients received CCTA for screening of CAD. The subjects were 1164 patients who underwent CCTA as screening for CAD. CAD was diagnosed when 50% or more coronary stenosis was present in the coronary arteries. Patient backgrounds were investigated by age, gender, body mass index, coronary risk factors [family history of cardiovascular diseases, smoking history, hypertension (HTN), diabetes mellitus (DM), dyslipidemia, chronic kidney disease (CKD) or metabolic sydrome] and medications. Patients were classified into two groups according to the presence or absence of statin pre-administration during CCTA [statin (−) group (n = 804) and (+) group (n = 360)]. Compared with the statin (−) group, the statin (+) group was significantly older and had higher rates of family history, HTN, and DM. The statin (+) group had a significantly higher % CAD than the statin (−) group. Serum levels of low-density lipoprotein cholesterol (LDL-C) were significantly lower in the statin (+) group than in the statin (−) group. There was no significant difference in either high-density lipoprotein cholesterol levels or triglyceride levels between the two groups. Age, male gender, HTN, DM and pre-treatment with statin were all associated with CAD (+) in all patients. In addition, factors that contributed to CAD (+) in the statin (−) group were age, male gender, and DM, and factors that contributed to CAD (+) in the statin (+) group were age, smoking, HTN and % maximum dose of statin. At the time of CCTA, the statin (+) group had a high rate of CAD and coronary artery stenosis progressed despite a reduction of LDL-C levels. To prevent the onset of CAD, in addition to strict control of other coronary risk factors (HTN etc.), further LDL cholesterol-lowering therapy may be necessary. [ABSTRACT FROM AUTHOR]

Background: Breast cancer (BC) is prevalent in Sudan, yet data on its epidemiology in Eastern Sudan is limited. This study aims to provide insights into the demographic and clinicopathologic features of BC patients treated at the East Oncology Centre (EOC) in Gadarif State, Eastern Sudan. Furthermore, we aim to identify the factors that contribute to a late-stage diagnosis. Methods: This cross-sectional study included patients diagnosed with BC and treated in the EOC between 2016 and 2022. Data obtained from medical records were analysed using R software, with descriptive statistics and multiple logistic regressions applied to determine determinants of advanced-stage presentation. A p-value < 0.05 was considered statistically significant. Results: Among the 394 patients studied, the majority were women (96%), married (66%) and from rural areas (43%). The peak years for BC diagnoses were 2018 and 2022, with a median age at diagnosis of 48 years. A family history of cancer was reported by 20% of patients. Clinical stages were distributed as follows: I (1.6%), II (17%), III (50%) and IV (32%). Twenty-five percent tested positive for human epidermal growth factor receptor 2, while 73% tested negative and 43% had triple-negative BC. Modified radical mastectomy was performed in 47% of patients, with 21% undergoing breast-conserving surgery. Treatment rates were 38% for radiotherapy, 84% for chemotherapy and 46% for hormonal therapy. Higher grade BC and lower education levels were associated with advancedstage presentation, while a family history of cancer reduced the risk of advanced-stage disease (OR: 0.38, 95% CI: 0.18--0.78). Conclusion: The study found that females in East Sudan often present at a young age and advanced stage, with a significant prevalence of triple-negative BC. Notably, family cancer history exhibited a protective effect against advanced-stage presentation, while grade 3 cancer was positively associated with advanced disease. [ABSTRACT FROM AUTHOR]

Objectives: The incidence of colorectal cancer (CRC) has exhibited regional variability in North Africa and the Middle East, with a steady increase in Algeria. Despite this trend, limited data exist on the epidemiology of CRC in northwestern Algeria. Our study aimed to investigate the epidemiological characteristics of CRC in this region. Methods: We conducted a retrospective study examining 255 confirmed CRC cases through medical records from patients at the Sidi Bel Abbes anti-cancer centre. Results: The mean age of the study participants was 59 ± 13 years. The results showed a higher incidence in males (57%) than in females, and colon (62%) than rectal cancer. Within this cohort, 47% had a pre-existing medical condition, while 39% had a family history of cancer. Adenocarcinomas were the prevailing histological subtype in 94% of CRC cases. Compared with colon cancer, rectal cancer was less often diagnosed at stage IV of the disease (OR = 0.75; 95% CI = 0.09, 4.86; p = 0.8) and more likely in early-onset patients (OR = 2.27; 95% CI = 1.25, 4.17; p = 0.007). Men were at a higher risk of being diagnosed with metastatic CRC primarily hepatic metastases (OR = 2.03; 95% CI = 1.07, 3.99; p = 0.033) and pulmonary metastases (OR = 2.50; 95% CI = 1.07, 6.59; p = 0.045). Conclusion: This study may provide a comprehensive glimpse into CRC epidemiology in northwest Algeria. Understanding regional differences is the key to implementing specific preventive and interventional strategies. [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]

Etiological beliefs of depression have differing impacts on motivation, hope, and treatment expectations. However, it is unclear where people are exposed to these beliefs. Objective: This study examined beliefs about depression and their relations to symptoms, attitudes about depression, and treatment preferences. Participants: 426 undergraduates attending a large midwestern university. Methods: Participants completed an online survey asking about causes of depression, if and where they had heard about the "chemical imbalance" explanation of depression, attitudes about depression, as well as measures of their symptoms, treatment history, and hypothetical treatment preferences. Results: Sixty-two percent of the sample had heard of the chemical imbalance explanation, most commonly from the classroom. Biochemical beliefs about depression were most strongly endorsed among participants with a family history of depression and who had had personal experience with treatment. The chemical imbalance belief was uniquely related to dysfunctional beliefs about depression. Etiological beliefs were largely unrelated to treatment preferences. Conclusion: College students are exposed to models of mental health that may not be ideal for treatment and recovery. [ABSTRACT FROM AUTHOR]