History Of First-degree Relatives Research Articles

Ethnic disparities in breast cancer: A comprehensive analysis of socio-demographic and clinical characteristics among African American, Hispanic, and Caucasian women.

e13698 Background: Despite advancements in breast cancer therapy leading to a decline in mortality rates within certain ethnic populations, there exists a concerning trend of increasing cancer incidence among African American (AA) and Hispanic women. This persistent rise highlights the urgent need to explore and comprehend the socio-demographic and breast cancer characteristics specific to these populations. Methods: We assembled a 10-year database of women diagnosed with breast cancer in the community hospital in Chicago. After excluding minority ethnic groups, specifically AA, Hispanic, and Caucasian cohorts were included in this study, comprising 786 patient records analyzed. Results: The distribution revealed a predominance of AA patients at 49.7%, Hispanics at 42.1%, and Caucasians at 8.14%. Noteworthy differences across the three ethnic groups were observed in age categories at cancer diagnosis, BMI categories, family history of first-degree relatives with breast cancer, marital status, smoking habits, menopausal status, and alcohol use at the time of diagnosis (p < 0.05). Within the molecular subtypes, 14.5% were identified as triple-negative breast cancer (TNBC), with a higher prevalence of 18.7% among the AA subgroups. 19.6% of patients had advanced disease, proportion was higher in AA ethnic group (22.8%; p = 0.83) compared to other ethnicities. Breast conservative procedures were prevalent in almost half of the patient population on average (52.1 %), with a slightly higher frequency of mastectomies noted in the Hispanic patient group (44.1%, p < 0.05). In logistic regression analysis, compared to the reference AA ethnicity, Hispanics exhibited higher odds of having HER-2 positive breast cancer (OR 1.74; CI 1.04 – 2.94; p < 0.05), as did Caucasians (OR 2.35; CI 1.05 – 5.04; p < 0.05). Conclusions: In summary, our study underscores substantial socio-demographic and breast cancer characteristic differences among AA and Hispanic populations compared to Caucasians, revealing notable ethnic disparities in breast cancer. Despite these variations, our findings highlight promising healthcare equity, with comparable access to surgical and chemotherapy interventions across ethnicities. TNBC demonstrates molecular heterogeneity and a higher prevalence among AA women, contributing to significant racial disparities.

Breast cancer risk associated with BRCA1 and BRCA2 pathogenic variants in the Eastern Chinese population

BackgroundPopulation-based penetrance studies of breast cancer gene 1/2 (BRCA1/2) pathogenic or likely pathogenic (P/LP) variants in the Eastern Chinese population are currently lacking; thus, we aimed to investigate the penetrance of breast cancer and other malignant tumors among BRCA1/2 P/LP variant carriers using a population-based breast cancer cohort from communities in Eastern China. MethodsBetween July 2019 and March 2021, we tested 2216 breast cancer probands from Chinese communities for BRCA1/2 mutations and collected detailed information on the age, survival status, and malignancy history of first-degree relatives. The kin-cohort method was used to calculate the penetrance of breast cancer and other malignant tumors. ResultsOf the 2216 breast cancer probands, 109 (4.9%) carried BRCA1/2 P/LP variants, 49 in the BRCA1 gene and 60 in the BRCA2 gene. The penetrance of female breast cancer by 85 years of age was 22.50% and 18.20% in BRCA1 and BRCA2 P/LP variant carriers, respectively. The penetrance of ovarian cancer by 85 years of age was 26.00% in BRCA1 P/LP variant carriers. The penetrance of other malignancies did not reach statistical significance owing to the small number of events. ConclusionsOur findings showed that breast cancer penetrance among BRCA1 and BRCA2 P/LP variant carriers was 22.50% and 18.20%, respectively, which suggests that prophylactic mastectomy may not be necessary for such Chinese individuals. Trial registrationClinicalTrials.gov; https://clinicaltrials.gov/ct2/show/NCT04265937.

Abstract 3372: Clinical genetic testing results in metastatic prostate cancer patients

Abstract Background: A proportion of prostate cancers (PCa) are hereditary, driven by likely pathogenic/pathogenic germline variants (PGVs) in DNA repair genes. PGVs in BRCA2 contribute to aggressive prostate cancer biology and overall poorer survival. Genetic testing and targeted sequencing panels help identify PGV carriers who are susceptible to aggressive PCa and may be candidates for targeted therapy with PARP inhibitors. Prior research suggested a high rate of 10-20% of metastatic PCa (mPCa) patients have PGVs in DNA repair genes; however, many of these studies reported highly selected research cohorts. The real-world rate of DNA repair PGVs and whether any genotype-phenotype correlations exist in broader, more racially diverse clinical populations are not well understood. Patients and Methods: We studied two prospective cohorts of males with PCa who presented for genetic testing due to meeting NCCN personal history genetic testing criteria for prostate cancer (metastatic or high risk/very high risk localized). We report PGV frequencies of mPCa patients who underwent genetic testing in a point of care model at the Basser Center within Penn Medicine (Penn-POC, n=596), and a cancer genetics practice at the Corporal Michael Crescenz VA Medical Center in Philadelphia (VA-GT, n = 171). PGVs were identified in ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PMS2, TP53. Results: The Penn-POC and VA-GT cohort included 437 (73.3%) and 59 (34.5%) self-identified white patients, respectively, and 121 (20.3%) and 107 (62.6%) self-identified black patients, respectively. In the Penn-POC and VA-GT cohorts, 7.2% and 7.6% patients were found to carry a PGV, respectively, and 11.9% and 18.1% of patients had variants of uncertain significance (VUS), respectively. The most common PGVs in the Penn-POC cohort were in BRCA2 (2.2%), ATM (1.9%), and BRCA1 (1.3%). The most common PGVs in the VA-GT cohort were in BRCA2 (2.9%), ATM (1.1%), and CHEK2 (1.2%). PGV rates were not statistically different between self-identified white and black patients in either cohort (Penn-POC p= 0.4036; VA-GT p=0. 0.4061). Overall PGV frequencies between the Penn-POC and VA-GT cohorts are not statistically different. There is a correlation between carrier status and age at diagnosis with a significant difference between carriers and non-carriers (p=0.0433) as well as with family history of first degree relatives with PCa (p=0.0184). However, there was not a significant correlation between carrier status and clinical stage at diagnosis, Gleason grade group, or other clinical variables. Conclusions: We report a lower rate of DNA repair PGVs in two prospectively ascertained, racially diverse cohorts of mPCa patients, approximately 7%, compared to the previously reported rates of 10-20%. Our results suggest age and family history, but not other pathological variables are clinical predictors for carrying a PGV in mPCa patients. Citation Format: Taylor Crawford, Emanuel Barrett, Tara Al-Saleem, Maliha Tayeb, Heather Symecko, Caitlin Orr, Vivek Narayan, Samuel Takvorian, Ravi B. Parikh, Yu-Ning Wong, Kyle Robinson, Lisa B. Aiello, Catherine Wolfe, Derek Mann, Kelsey Spielman, Susan M. Domchek, Kara N. Maxwell. Clinical genetic testing results in metastatic prostate cancer patients [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 3372.

The Health History of First-Degree Relatives' Dyslipidemia Can Affect Preferences and Intentions following the Return of Genomic Results for Monogenic Familial Hypercholesterolemia.

Genetic testing is key in modern healthcare, particularly for monogenic disorders such as familial hypercholesterolemia. This Tohoku Medical Megabank Project study explored the impact of first-degree relatives' dyslipidemia history on individual responses to familial hypercholesterolemia genomic results. Involving 214 participants and using Japan's 3.5KJPN genome reference panel, the study assessed preferences and intentions regarding familial hypercholesterolemia genetic testing results. The data revealed a significant inclination among participants with a family history of dyslipidemia to share their genetic test results, with more than 80% of participants intending to share positive results with their partners and children and 98.1% acknowledging the usefulness of positive results for personal health management. The study underscores the importance of family health history in genetic-testing perceptions, highlighting the need for family-centered approaches in genetic counseling and healthcare. Notable study limitations include the regional scope and reliance on questionnaire data. The study results emphasize the association between family health history and genetic-testing attitudes and decisions.

Thyroid Autoimmune Disease among Emirati Patients: A Retrospective Analysis of the Patients’ Characteristics

Background: Autoimmune thyroid disease (AITD) is a serious and treatable disease that could be associated with other autoimmune disorders. It is a common cause of hypothyroidism in adult females. The diagnosis is established by detecting serum antithyroid antibodies. The disease slowly progresses, and the treatment includes thyroid hormone replacement in cases of hypothyroidism. Objective: The aim of this study is to investigate the clinical presentation, laboratory findings, and comorbidity factors involved in autoimmune thyroid disease among Emirati citizens in the UAE. Methods: Medical records from Advanced Cure Diagnostic Centers were reviewed in a retrospective study over the period of four years from 2018 to 2022. The patients population included those who attended the Endocrinology Unit and others seen by the rest of the medical staff. Patients were considered to have AITD if they tested positive for thyroid peroxidase antibodies (TPOAb), thyroglobulin antibodies (TgAb), or both. The data collected was evaluated using descriptive analysis to provide a basic summary of the patients sample and dataset. Unpaired t-test was used to compare the mean value of elevated autoantibodies in males and females. Results: Of the 366 Emirati nationals who were tested for autoimmune thyroiditis, 220 (60%) had an abnormal result for TPOAb and/or TgAb. Among the 220 patients who had an abnormal result for TPOAb and/or TgAb, 188 (85.5%) were females, and 100 patients (45.5%) were in the age group between 31 and 40 years. 42% were in a euthyroid state and 42% presented with hypothyroidism. Only 7% presented with hyperthyroidism, 5% with subclinical hypothyroidism, and 2% with subclinical hyperthyroidism. An analysis of the comorbidity factors revealed that 142 (65%) patients with obesity, 82 (37%) with a family history of thyroid disease, 77 (35%) with hyperlipidemia, 14 (6%) with hypertension, and 11 (5%) with diabetes. Conclusion: This is the first publication intended to address AITD in Emirati citizens. Our findings concur with the international data regarding the prevalence among middle-aged females. Eighty-four percent of the positive patients either presented with no abnormality of their thyroid gland function or with hypothyroidism. With the alarming increase of obesity in the UAE, we found it to be the single most important and preventable comorbidity factor present in 65% of the studied population. This is followed by a family history of first-degree relatives with thyroid disease in 37% of the participants, due to the high rate of consanguineous marriages in the UAE.

Relationship between health information literacy and health promoting lifestyle among first-degree relatives of patients with colorectal cancer in China: the mediating effect of health belief.

History of first-degree relatives with colorectal cancer is one of the most important and common risk factors for colorectal cancer in China. Most chronic diseases, such as malignancies, are preventable by adopting health-promoting behaviors and other approaches. However, the relationships among factors affecting the health-promoting lifestyles of first-degree relatives with colorectal cancer have not been sufficiently studied. This study aimed to test the mediation effects of Health belief in the relationship between health-promoting lifestyle and health information literacy among first-degree relatives with colorectal cancer. A cross-sectional descriptive design was conducted using convenience sampling of 856 first-degree relatives of CRC patients attending three tertiary care hospitals in Nanchong and Deyang of China from December 2020 to December 2022. Questionnaires were used to collect data on the participants' demographic information, the colorectal cancer health beliefs, the health promotion lifestyle, and the health information literacy. Data were analyzed with descriptive statistics, one-way ANOVA, Pearson's correlation coefficients, and mediation analysis using SPSS 25.0 program and its macro-program PROCESS. The findings indicated health information literacy was less, health belief was at the medium level, and performance of health promotion behavior was average for first-degree relatives of colorectal cancer. Whereas first-degree relatives of colorectal cancer health-promotion lifestyle had a positive correlation with health beliefs (r = 0.376, p < 0.01) and health information literacy (r = 0.533, p < 0.01), health beliefs had a positive correlation with health information literacy (r = 0.337, p < 0.01). Health beliefs mediated the positive effect of health information literacy on health-promoting lifestyles (β =0.420, 95% CI, 0.288-0.581), and indirect effects accounted for 14.0% of the total effect. Health information literacy and health beliefs are key factors associated with a health-promoting lifestyle among first-degree relatives with colorectal cancer. These factors have direct and indirect effects on each other and on health-promoting lifestyles. To enhance health-promoting lifestyles among first-degree relatives with colorectal cancer, interventions that strengthen health beliefs and provide health information literacy should be developed.

Earlier and more aggressive treatment with biologics may prevent relapses and further new organ involvement in Behçet's disease

ObjectiveImmunosuppressives (IS) are the choice of treatment for major organ involvement in Behçet's disease (BD). In this study, we aimed to investigate the relapse rate and new major organ development in BD under ISs during long-term follow-up. MethodsThe files of 1114 BD patients followed in Marmara University Behçet's Clinic were analyzed retrospectively. Patients with a follow-up less than 6 months were excluded. Conventional IS and biologic treatment courses were compared. ‘Events under IS’ were defined as a relapse of the same organ and/or new major organ development in patients receiving ISs. ResultsAmong 806 patients included in the final analysis (male: 56%, age at diagnosis: 29 (23–35) years, median follow-up time: 68 (33–106) months). Major organ involvement was present in 232 (50.5%) patients at diagnosis, and 227 (49.5%) developed new major organ involvement during follow-up. Major organ involvement developed earlier in males (p = 0.012) and in patients with a first-degree relative history of BD (p = 0.066). ISs were given mostly for major organ involvement (86.8%, n = 440). Overall, 36% of the patients had a relapse or new major organ involvement under ISs (relapse: 30.9%, new major organ involvement: 11.6%.) ‘Events under IS’ (35.5% vs 20.8%, p = 0.004), and relapses (29.3% vs 13.9%, p = 0.001) were more common with conventional ISs compared to biologics. ConclusionAny major event under ISs was less common with biologics compared to conventional ISs in patients with BD. These results suggest that earlier and more aggressive treatment may be an option in BD patients who had the highest risk for severe disease course.

Relationship between suicidal behavior/self-mutilation and Vitamin B12 and Folic Acid Levels in Adult Attention Deficit Hyperactivity Disorder

Aim: Attention deficit hyperactivity disorder (ADHD) and suicidal behavior are common situations that cause social and emotional problems. deficiencies of folate and vitamin B12 have been related to suicidal behavior and etiology of ADHD. We aimed to evaluate the association of suicide/self-mutilation behaviors and Vitamin B12 and folic acid levels in adult ADHD. Materials and Methods: Adult ADHD patients were evaluated in terms of sociodemographic characteristics and suicidal behavior/self-mutilation, suicide ideation, impulsivity, functionality with clinical interviews and scales. Comorbid psychiatric diagnosis were excluded. Levels of vitamin B12 and folate were detected. All results were compared to healthy controls statistically. Then ADHD patients were divided into two groups as with and without suicidal behavior/self-mutilation and compared clinically. Results: There were 40 ADHD patients and 40 healthy controls in the study. Suicidal behavior/self-mutilation, suicide ideation and impulsivity scores and psychiatric diagnose history of first degree relatives were higher in the patient group. Levels of Vitamin B12 and folic acid were similar in both groups and not correlated with suicidal behavior/self-mutilation and suicidal ideation. Conclusion: There was a significant association of adult ADHD and suicidal behavior/self-mutilation. Suicide-related consequences were particularly related to impulsivity. It may be recommended to screen individuals with ADHD for suicidal ideation and impulsivity to reduce risky behaviors. However, it does not support the hypothesis of a relationship between low B12 and folate and suicidality in adult ADHD.

ODP043 Hypokalemia in Autoimmune Polyglandular Syndrome: A Case of Newfound Type I (Distal) Renal Tubular Acidosis

Abstract Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy Type 1 (APECED) is a rare autosomal recessive disorder predisposing to early development of chronic mucosal candidiasis and progressive development of various endocrinopathies, such as Addison's disease, Primary Hypoparathyroidism, and Type 1 Diabetes (T1D). Few cases described in literature regarding renal involvement in this disorder, with most common manifestation being tubulo-interstitial nephritis, however, there is limited evidence regarding presentation of APECED with hypokalemia due to concomitant Type I Renal Tubular Acidosis (RTA). Case of a 47-year-old female with past medical history of APECED Type 1 (consisting of hypoparathyroidism, adrenal insufficiency, and chronic mucocutaneos candidiasis), T1DM on honeymoon, hypothyroidism, and nephrolithiasis presenting to the emergency department complaining of bilateral upper and lower extremity weakness of one week in evolution, but worsening on day of admission. Denies associated constitutional symptoms. Strong positive first-degree relative history for autoimmune diseases. Physical examination: 2/5 strength in all four extremities, deep tendon reflexes grossly intact, no gross sensory or motor deficits. Patient on oral steroid therapy for her Addison's, calcitriol supplementation for hypoparathyroidism, and potassium chloride supplementation since a prior hypokalemic episode 17 years ago. Laboratory workup results remarkable for sodium: 140 mmol/L (N: 135-144 mmol/L), chloride: 110 mmol/L (N: 95-105 mmol/L), potassium: 2. 0 mmol/L (N: 3.4-4.5 mmol/L), central bicarbonate: 18mmol/L (N: 23-31 mmol / L), anion gap: 12 (N: 10-12), glycosylated hemoglobin: 5.2% (N: 4.7-6.2%) and anti-glutamic acid decarboxylase antibodies &amp;gt;25,000 U/mL (N: &amp;lt;5 U/mL). Adrenal insufficiency was ruled out by laboratory findings, but she had normal anion gap metabolic acidosis (NAGMA) and hypokalemia. Urinalysis was negative for urinary tract infection but with pH: 7. 0 (N: 4.5-8. 0). Urine spots, measured to find the cause of her NAGMA, showed urine sodium: 92 mmol/L, urine potassium: 10 mmol/L, urine chloride: 90 mmol/L, and urine anion gap of 12 mEq/L, which is positive and suggests low urinary NH4+, consistent with Type I (Distal) RTA as the main etiology. Patient started on IV potassium replacement, which increased potassium to 3.8 mmol/L, and improved acidotic state, with central bicarbonate of 29mmol/L, and overall symptoms. Patient was discharged home with alkali therapy (Sodium citrate) for Type I (Distal) RTA. RTA is an underrecognized condition that may be inherited or acquired. Diagnosis is difficult but can be verified with a thoughtful workup. RTA should be considered for any patient with otherwise unexplained hyperchloremic metabolic acidosis and may be the presenting manifestation of autoimmune diseases. Regular renal monitoring for any APECED patient should be performed. We present this case as evidence for the coexistence of several different immune-mediated diseases in the clinical context of APECED with an unusual concomitant Type I (Distal) RTA, where there is few documented evidence of association with this disorder. Presentation: No date and time listed

Mood regulation, alexithymia, and personality disorders in female patients with opioid use disorders

BackgroundOpioid use disorders are rising among females. So, there is a need for more recognition of the various factors contributing to this trend in women, to help us to plan effective interventions to this group of patients. Hence, we conducted this research to identify risk factors associated with opioid use in females including mood regulation, alexithymia, and personality disorders. The study included 60 females ranging from 18 to 45 years [30 females diagnosed with opioid use disorder according DSM-IV (case group), and 30 females with no mental illness diagnosis according to general health questionnaire (control group)]. The subjects were recruited from inpatients and outpatient clinic of Al-Abbassia Hospital, Cairo, Egypt. Both groups were assessed by the Structured Clinical Interview for DSM-IV axis II disorders (SCID II) for personality, Trait Meta-Mood Scale (TMMS) for emotional regulation and Toronto Alexithymia Scale-20 (TAS-20) for alexithymia.ResultsRegarding sociodemographic data, cases were significantly different from controls as they are less educated (P < 0.001), more 73% (22) unemployed (P <0.001) and 56.7% (17) of cases had positive family history of first degree relatives with drug use (P = 0.001).SCID II showed more significant personality disorders diagnosis among cases as (borderline, antisocial, paranoid, schizotypal, and schizoid personality disorder) (P < 0.001, < 0.001, 0.01, 0.003, and 0.005, respectively) and also multiple personality disorders (P < 0.001) diagnosis. As regards alexithymia all cases were classified as having alexithymia 100% versus 56.7% among controls. Meanwhile, cases showed more difficulty in identifying (P < 0.001) and describing feelings (P = 0.001) and more externally oriented thinking (P = 0.010). Results of TMMS showed cases had lower total score on TMMS (p = 0.016). Signifying their inability to regulate their emotions in comparison to controls. There was no significant association between alexithymia, sociodemographic data, TMMS, and SCID II among cases group.ConclusionsThe present study found that females with opioid use disorders tend to be less educated, unemployed with positive family history of substance abuse, and diagnosed mainly with cluster A and B personality disorders. Moreover, had difficulty in identifying, describing, and regulating their emotions.

POS0219 EARLIER AND MORE AGGRESSIVE TREATMENT OF MAJOR ORGAN INVOLVEMENT WITH BIOLOGICS MAY PREVENT RELAPSES OR FURTHER NEW ORGAN INVOLVEMENT IN A SUBGROUP OF BEHÇET’S DISEASE PATIENTS

BackgroundConventional immunosuppressives (cIS) are the choice of treatment for major organ (ocular, vascular, central nervous (CNS) and gastrointestinal (GIS)) involvement to prevent relapses and organ damage in patients with Behcet’s disease (BD).ObjectivesWe aimed to investigate the rate of new major organ involvement in BD patients under cIS treatments during follow-up and to assess the characteristics and treatment protocols of these patients.MethodsThe files of 1114 patients diagnosed with BD and followed (1992-2019) in the Marmara University Behcet’s Clinic were overviewed retrospectively. Patients with follow-up duration less than 6 months were excluded. A total of 806 patients, of whom 56% were male were included in the analysis. Demographic and clinical characteristics, follow-up and treatment data of the patients were recorded from files. Relapse of the same organ and/or new major organ development during the follow-up period of patients receiving cIS was defined as “event under cIS”.ResultsMedian age at diagnosis was 29 (10-65) years and median follow-up duration was 68 months (6-272). Genital ulcer, erythema nodosum and arthritis/arthralgia were more common in women, whereas papulopustular lesions, vascular and ocular involvement were more common in men (p&lt;0.005 for all). Presence of major organ involvement was 56.9% (n=459) and the frequencies of vascular, ocular, CNS and GIS involvement were 29.8%, 33,5%, 9.7%, and 2%, respectively.At diagnosis 232 (50.5%) patients had major organ involvement, whereas it developed in 227 patients during a follow-up of median 3 years (0.5 - 32) after diagnosis. Major organ involvement developed earlier in males compared to females (median 2 years vs 4 years, p = 0.012). In patients with a first-degree relative history of BD, major organ involvement also developed earlier, however without reaching significance (median 1 year vs 3 years) (p= 0,066). 440 patients had follow-up data under cISs with the follow-up duration of median 65.5 months (6-272). Main reason for cISs use was major organ involvement (86.8%), less frequent reasons were mucocutaneous disease (9.3%) and joint involvement (3.8%). An event under ISs (mainly relapses) occurred in 160 (36.4%) patients with median 23 months after cISs initiation. Majority of events (68%) were relapses of the same major organ (Figure 1). The most commonly used cIS agent was azathioprine (87%). Among patients having an event under cISs, 91% of the relapses and 75% of new major organ involvement developed under azathioprine treatment. In patients with an event under cISs, treatment mostly switched to other ISs such as cyclophosphamide, interferon-alpha, and high dose corticosteroids. In 22% of patients, azathioprine was switched to tumor necrosis factor (TNF) inhibitors.ConclusionIn our study, major organ involvement developed in 57% of the 806 BD patients. We observed that disease course was more severe under cIS treatment in male patients diagnosed at a younger age and with the history of familial BD. In one third (36%) of the patients under cIS treatment, a relapse or a new major organ involvement developed despite the cISs use, mainly under azathioprine. TNF-inhibitor use was approved for BD treatment within the last decade in Turkey. Therefore, azathioprine was switched to a TNF inhibitor in only 22%. Our results suggest that earlier and more aggresive treatment of major organ involvement with biologics may be an option in young male patients especially with the history of familial BD, who had the highest risk for severe disease course.Disclosure of InterestsNone declared

The relationship between smoking, alcohol, and substance abuse and psychiatric diseases among adolescents treated in a child and adolescent psychiatry inpatient unit

This study aimed to investigate the prevalence of smoking, alcohol, and substance abuse disorders among adolescents hospitalized in a university hospital child and adolescent psychiatry inpatient unit with different diagnoses, and to determine the rates of these disorders according to the mental illness diagnosis groups. The study was conducted with 346 adolescents aged 12-18 who had been hospitalized with any psychiatric diagnosis between September 2016 and January 2020 in the child and adolescent psychiatry inpatient unit. The study considered the psychiatric diagnoses, based on the results of the DSM-5-based psychiatric interview; sociodemographic and clinical characteristics; the psychopathology history of first-degree relatives; comorbidities; length of hospital stay; income levels, and smoking, alcohol, and substance abuse. Twenty-four percent (n=83) of the participants had been smoking for 18 months or longer, 6.9% (n=24) were using alcohol, and 1% (n=28) were substance abusers. When the diagnosis distributions were examined, smoking was found to be higher in those with depressive disorders and trauma and related disorders, while smoking, alcohol, and substance use were found to be higher in the disruptive behavior disorder group. Smoking was found to be significantly lower in the obsessive-compulsive disorder group. Smoking, alcohol, and substance use among inpatient children and adolescents may worsen their existing psychopathology, so health professionals working in this field should consider this situation.

Abstract 9209: Type 1 Brugada Syndrome Diagnosed in a Patient With an Unaffected Identical Twin

Introduction: Brugada syndrome is a rare arrhythmia disorder due to a cardiac channelopathy with a predisposition to ventricular arrhythmias or SCD. It is characterized by an ECG pattern of complete or incomplete right bundle branch block and ST segment elevation in leads V1-V3. It is normally inherited in an autosomal dominant pattern however environmental factors such as viral infections and inflammation may create myocardial cell damage that may induce an ECG pattern consistent with the diagnosis of Brugada syndrome. Case: A 39-year-old male with no significant past medical history presented to the hospital for two weeks of intermittent dizziness and nocturnal symptoms of being “jolted” awake. ECG on admission was suggestive of a Type 2 Brugada pattern. He denied a family history of first-degree relatives with cardiac disease, SCD or unexplained syncope but did note that he had an identical twin brother. Given symptoms and ECG findings, he was given 400 mg of oral flecainide for a sodium blockade challenge. Four hours after administration of flecainide he developed an overt Type 1 Brugada pattern. Due to issues with the MRI, a cardiac CTA was performed to assess for ARVD. Cardiac CTA showed a mild amount of fat in the apex of the right ventricular wall but was otherwise unremarkable. He was discharged with a wearable external defibrillator and outpatient follow up with EP. During outpatient follow up he reported resolution of symptoms. Interrogation of the defibrillator did not reveal any arrhythmias. An ECG was done on his identical twin brother which did not show evidence of a Type 1 Brugada pattern. He completed a cardiac MRI that showed normal morphology and motion of the right ventricle without evidence of fat dysplasia or late gadolinium enhancement. Given resolution of his symptoms with a normal cardiac MRI and an unremarkable ECG from his identical twin, he was diagnosed with an acquired Brugada syndrome likely due to a viral myocarditis. Conclusion: While Brugada syndrome is normally an inherited genetic disorder, there are instances of acquiring the syndrome through environmental factors. As demonstrated by our case of identical twin brothers with the same genetic makeup, one was diagnosed with Brugada syndrome while the other had an unremarkable ECG.

A Clinical Rationale for Assessing the Impact of Childhood Sexual Abuse on Adjunctive Subcutaneous Esketamine for Treatment-Resistant Depression.

Background: A history of child sexual abuse (CSA) is related to higher suicide rates and poor treatment outcomes in depressed adult patients. Twenty years after the first study investigating the effects of ketamine/esketamine on depression and suicide, there is a lack of data on the CSA effects on this emerging treatment. Here, we assess the impact of CSA on adjunctive subcutaneous (SC) esketamine for treatment-resistant depression (TRD).Methods: A directed acyclic graphic (DAG) was designed to identify clinical confounders between CSA and esketamine predictors of response. The confounders were applied in a statistical model to predict depression symptom trajectory in a sample of 67 TRD outpatients.Results: The patient sample had a relatively high prevalence rate of CSA (35.82%). Positive family history of first-degree relatives with alcohol use disorder and sex were clinical mediators of the effects of esketamine in a CSA adult population. Overall, the presence of at least one CSA event was unrelated to esketamine symptom reduction.Conclusions: Unlike responses to conventional antidepressants and psychotherapy, CSA does not appear to predict poor response to esketamine.

WOMEN WITH BREAST CANCER ATTENDED IN PUBLIC HOSPITAL FROM MACAPÁ, AMAPÁ

Breast cancer is a disease of epidemiological concern worldwide, being considered a serious public health problem. Although it is well established that early diagnosis and adequate treatment interfere with mortality rates and the prevalence of cancer, few data are available regarding the descriptive epidemiology of breast cancer in Brazil, as well as in the various states of the federation, as is the State of Amapá. The general objective was to characterize the risk factors of breast cancer patients treated at Hospital de Clínicas Dr. Alberto Lima (HCAL) from January 2012 to December 2017 in the city of Macapá, Amapá. Cases of breast cancer were reviewed, with an analysis of 194 medical records, and the following variables were studied: age, education level, histological type of the neoplasia, age at first delivery, menarche and menopause, breastfeeding time, alcohol intake, smoking, family history of breast cancer in first-degree relatives. It was noted that the age group most affected was between 41-50 years old and with an education level of elementary education. In these women, the most frequent characteristics were: age at first delivery between 13-20 years, menarche between 10-13 years, menopause from 41-50 years with a significant number of patients at menace (outside menopause), breastfeeding time between 2-22 and 23-42 months, both intervals with the same number of records; most did not drink alcohol, were not smokers and had no family history of first-degree relatives of breast cancer. In the cases studied, the most frequently diagnosed histological type was invasive ductal carcinoma.

Should Lipoprotein(a) be Measured in Youth?

Should Lipoprotein(a) be Measured in Youth?

WOMEN WITH BREAST CANCER CARE AT THE PUBLIC HOSPITAL OF MACAPÁ - AMAPÁ: EPIDEMIOLOGICAL AND CLINICAL ASPECTS

Breast cancer is a disease of widespread epidemiology worldwide and is considered a serious public health problem. Although it is well established that early diagnosis and appropriate treatment interfere with mortality rates and cancer prevalence, few data are available on the descriptive epidemiology of breast cancer in Brazil and in the state of Amapá. The general objective of this dissertation work was to study the epidemiological and clinical aspects of breast cancer patients treated at the Dr. Alberto Lima Clinical Hospital (HCAL), from January 2012 to December 2017 in the city of Macapá, Amapá. Breast cancer cases were reviewed, with analysis of 194 medical records, and the following variables were studied: Annual frequency of breast tumor, age, education level, origin, location of breast lesion, histological type of cancer, age at first childbirth, Menarche and Menopause, breastfeeding time, alcohol intake, smoking, family history of breast cancer in first-degree relatives, clinical staging of the disease, immunohistochemical panel, type of surgical treatment, Chemotherapy, Radiotherapy, Hormone Therapy and Target Therapy " It was noted that the year 2017 had the highest number of diagnosed cases, the age group between 41-50 years was the most affected, women with low education (Elementary Level) and coming from the capital of Amapá. In these women, the most frequent characteristics were: Age at first birth between 13-20 years, Menarche between 10-13 years, Menopause 41-50 years with significant number of patients in Menácme (out of menopause), Breastfeeding time between 02 -22 and 23-42 months, both intervals with the same number of records; Most of them did not drink alcohol, were not smokers, and had no family history of first-degree relatives of breast cancer. In the studied cases, the most common localization of the breast lesion was the Lateral Upper Quadrant, the most diagnosed histological type was Invasive Ductal Carcinoma, with clinical stage IIA, Luminal A molecular subtype, Radiotherapy and Hormomyotherapy were performed most of the time, but Target Therapy was not prevalent.

Difference Analysis Of Related Factors In Macrovascular And Microvascular Complications In Chinese Patients With Type 2 Diabetes Mellitus: A Case-Control Study Protocol.

IntroductionDespite the increasingly young age at diabetes onset and the increasing number of deaths caused by type 2 diabetes mellitus (T2DM), why some patients develop macrovascular complications but others develop microvascular complications remains controversial and unclear. Notably, some patients have good glucose control but still develop vascular complications, whereas some patients have retinopathy with neither nephropathy nor neuropathy. This study will be performed to explore the risk factors for T2DM complications in Chinese patients.Methods and analysisPatients with T2DM and healthy people will be recruited from Hebei General Hospital from September 2019 to September 2020. The subjects will be grouped into a control group, T2DM without vascular complications group, T2DM with macrovascular complications group, and T2DM with microvascular complications group; they will then be further subgrouped. The following data will be collected after admission: demographic information such as age, sex, and education; relevant medical history such as duration of diabetes, family history of first-degree relatives with diabetes, and age at diagnosis of diabetes; and anthropometric and blood indicators such as weight, waist circumference, fasting blood glucose level, C-peptide level, total cholesterol level, and triglyceride level. The statistical analysis will be performed using SPSS 22.0 (IBM Corp., Armonk, NY, USA). A P value of <0.05 will be considered statistically significant. The χ2 test, one-way analysis of variance and the rank sum test will be used to analyze differences between the groups. Logistic regression will be used to analyze the risk factors for macrovascular and microvascular complications of T2DM.

Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome.

The purpose of this study was to report clinical characteristics, surgical results, and new PTCH1 gene mutations in nevoid basal cell carcinoma syndrome (NBCCS). Five patients were referred to the Department of Oral and Maxillofacial Surgery from local dental clinics between 2006 and 2016 to treat multiple keratocystic odontogenic tumors (KOTs). The cystic lesions were enucleated and peripheral ostectomy was performed to obtain safety margin. Recurrence and/or de novo development of KOT were assessed. Gene analysis using peripheral blood was performed in all patients to identify the mutation of PTCH1 gene. Three patients showed familial history of first-degree relatives. Of the major criteria, all patients presented KOT but only 1 patient had basal cell carcinoma. Of the minor criteria, 4 of the 5 patients presented macrocephaly and hypertelorism. During follow-up periods, all patients showed recurrence and/or de novo development of KOT in the jaw bone. Mutation analysis of PTCH1 gene showed 3 frameshifts (c.817_818ins(T), c.1226_1227ins(A), and c.2748del(C)), 1 splicing (c.1504-2A>T), and 1 missense (c.385T>C) mutation. Mutations were found in exon 1, 6, 9, 17, and intron 10. Regular follow-up is necessary because recurrence rate of KOT was very high. To help early diagnosis, it is essential to routinely perform genetic testing to detect PTCH1 gene mutations among patients with NBCCS.

Comparison of familial and non-familial suicidal behaviors among people with major depressive disorder: Testing the discriminative predicting role of high-yield clinical variables

BackgroundSuicidal behavior in first-degree relatives of people diagnosed with major depressive disorder (MDD) increases the risk of suicidal behavior. Such an effect may be the result of genetic risk factors or environmental ones, including imitation, or both. Surprisingly few studies have examined this question and thus, there still is little known about the effect of first-degree family history of suicidal behavior on the type of suicidal behavior and profile of risk factors related to the diathesis for suicidal behavior. Even less is known about intra-familial risk transmission. MethodsPatients with MDD (n = 252) experiencing a current major depressive episode and who had a previous suicide attempt were studied. Those with and without a family history of first-degree relatives who had made a suicide attempt or died by suicide were compared across clinical and suicide-related characteristics. ResultsSuicide attempters with (FDR+, n = 59) and without a first-degree relative with suicide attempt or suicide (FDR−, n = 193) were similar in terms of type or frequency of suicide attempts, level of lifetime aggression and impulsivity, age of onset of depression and age at first suicide attempt. LimitationsCross-Sectional study. Lack of additional external validators. ConclusionsContrary to our hypothesis and the concept of “genetic anticipation”, a first-degree family history of suicide attempt or suicide in currently depressed attempters with MDD was not associated with a range of clinical and suicide-related characteristics. Longitudinal studies incorporating external validators and potential biological markers may advance this area of research.