Clinical Counseling Research Articles

Analysis of social determinants with quality of life in people with HIV/AIDS at the voluntary counseling test clinic

Introduction: HIV and AIDS are known to have become an emergency problem around the world, where infection transmission, morbidity rates, and mortality rates are still high. The existence of the HIV/AIDS epidemic is one of the scary scourges among the community because of its unexpected transmission by HIV due to human behaviour. Objective: This study aims to analyze social determinants with quality of life in people with HIV/AIDS in the Voluntary Counseling and Testing Clinic. Methods: This study is an analytical study using a cross-sectional study research design. The population in this study is all HIV/AIDS patients domiciled in Kendari City. The number of samples was 177 respondents which was determined by simple random sampling. Data analysis uses the chi-square test and the multiple logistics test. Result: The results of the study showed that there was a stigma relationship with Odhiv's quality of life at the VCT Clinic of Kendari City Hospital (p = 0.000) and there was a relationship between social support and Odhiv's quality of life at the VCT Clinic of Kendari City Hospital (p = 0.000). The variable that has the greatest influence on the quality of life of ODHIV is the social support variable with an OR of 0.353. Conclusion: The variable that has the greatest influence on the quality of life of People with HIV/AIDS (ODHIV) is social support. Social support has proven to be a very significant factor in improving the quality of life of people living with HIV. Individuals with strong social support, whether from family, friends, or the community, tend to have a better quality of life than those who receive less social support. Social support plays a role in helping people with HIV cope with stigma, reduce psychological pressure, and provide a sense of security and comfort that can have a positive impact on their physical and mental well-being.

HIV incidence and recreational drug use among men who have sex with men aged 18-24 years in Tianjin, China: a retrospective cohort study.

Recreational drug use has been identified as a significant risk factor for the transmission of human immunodeficiency virus (HIV). This behavior is particularly prevalent among young men who have sex with men (YMSM). However, limited research has been conducted to investigate the correlation between recreational drug use and HIV incidence within this population. To examine HIV incidence and explore the association between recreational drug use and HIV incidence among YMSM. A retrospective cohort study was conducted by a local non-governmental organization (NGO) among MSM aged 18-24 years from October 2017 to December 2023 in Tianjin, China. Participants were included if they had at least two HIV test records during this period. HIV incidence density and its 95% confidence interval (CI) were calculated using person-years (PYs) with a Poisson distribution. Risk factors for HIV incidence were identified using univariable and multivariable Cox proportional hazards regression models. A total of 56 HIV seroconversions were reported with 2901.9 PYs, resulting in an overall incidence density of 1.9/100 PYs (95% CI: 1.4-2.4). Among YMSM who do not use recreational drugs (YMSM-URD), the incidence density was 1.1/100 PYs (95% CI: 0.5-1.6), while it was 2.8/100 PYs (95% CI: 1.9-3.7) among those who do use recreational drugs (YMSM-RD). Adjusted for confounders, factors associated with HIV infection included recreational drug use (adjusted hazard ratio = 2.6, 95% CI = 1.4-4.7) and unprotected anal intercourse in the past six months (adjusted hazard ratio = 2.3, 95% CI = 1.2-4.4). Recreational drug use and unprotected anal intercourse significantly increase the risk of HIV infection. To effectively mitigate the spread of HIV, interventions should focus on these risk factors by employing HIV counseling and testing clinics, collaborating with NGOs focused on MSM, and establishing peer education programs aimed at YMSM.

Nomogram for predicting testicular yolk sac tumor in children based on age, alpha-fetoprotein, and ultrasonography

ObjectiveTo establish a predictive model for distinguishing testicular benign or yolk sac tumors in children.MethodsWe retrospectively analyzed data for 119 consecutive patients with unilateral testicular tumors treated at a single institution from June 2014 to July 2020. The patients were divided into the benign (n = 90) and yolk sac (n = 29) tumor groups based on the pathological diagnosis. We recorded patient age, serum markers [serum alpha-fetoprotein (AFP), human chorionic gonadotropin], and tumor ultrasonic findings (maximum diameter, ultrasonic echo, blood flow signal). Predictive factors were identified using descriptive statistical methods. A nomogram was established for preoperative prediction. An additional 46 patients were used as a validation cohort to verify the model.ResultsPatients with testicular yolk sac tumors were younger (median age: 14.0 vs. 34.0 months, P = 0.001) and had a higher incidence of elevated AFP levels (93.1% vs. 2.2%, P < 0.001). Ultrasonography indicated that testicular yolk sac tumors tended to have larger maximum diameters (26.5 ± 11.3 vs. 16.6 ± 9.2 cm, P < 0.001), a higher proportion of hypoechoic masses (44.8% vs. 8.9%, P < 0.001), and a higher incidence of masses with strong blood flow signals (93.1% vs. 5.6%, P < 0.001). A nomogram based on age, AFP levels, and ultrasound blood flow signals effectively predicted the probability of yolk sac tumor in children, with an accuracy of 0.98 (95% confidence interval: 0.984–1.003). The Brier score of the nomogram was 0.0002.ConclusionA nomogram based on age, AFP levels, and ultrasound blood flow signals can effectively predict the probability of testicular yolk sac tumor preoperatively, aiding in clinical decision-making and patient counseling.

BS O02 - Impact of Bariatric surgery on Obesity Indices and Reproductive Hormones: A Prospective Study in Morbidly Obese Women

Abstract Background Obesity, defined by a BMI of 30 kg/m² or higher, is influenced by genetics, socio-economic, and cultural factors. Genetic predispositions affect metabolism and energy regulation, while environmental factors like sedentary lifestyles and poor food environments worsen obesity. Obesity disrupts hormonal balances, impacting sex hormone levels and menstrual cycles, leading to infertility in women. This hormonal imbalance affects oocyte quality and ovulation. Bariatric surgery offers significant weight loss and metabolic improvements, enhancing reproductive hormone profiles and insulin sensitivity. Our study explores how sleeve gastrectomy affects BMI and hormone levels, aiming to understand its impact on obesity management and reproductive health. Method This prospective observational study examines the effects of laparoscopic sleeve gastrectomy on reproductive hormones and ovarian function in 32 morbidly obese women, adhering to Helsinki Declaration ethics. Participants, aged 18-50 with no menopause or chronic illness, consented to the study. Exclusions included those with polycystic ovary syndrome, recent reproductive organ surgery, or recent infertility medications. The study assessed changes in BMI, antral follicles, anti-Müllerian hormone, and reproductive hormones before surgery and at 6 and 12 months post-surgery. Blood samples and transvaginal ultrasounds were conducted preoperatively and at 6 and 12 months postoperatively to monitor outcomes. Results The study involved participants with an average age of 33 and a mean BMI of 42.12. Significant changes were observed post-sleeve gastrectomy at 6 and 12 months (p < 0.001). At 6 months, BMI decreased by 9.24 units, AMH levels dropped from 3 to 2.5 ng/mL, and antral follicle counts in both ovaries declined. By 12 months, BMI decreased by 16.47 units, AMH levels fell to 2 ng/mL, and antral follicle counts further reduced. Hormonal changes included increases in FSH, LH, and estradiol, while SHBG levels rose, and free testosterone levels decreased significantly. Conclusion Individual hormone responses to weight loss and surgery necessitate personalized obesity treatments. Tailoring surgical approaches and care to hormonal profiles can optimize outcomes and reduce complications. Monitoring AMH levels post-surgery can offer insights into reproductive effects, aiding clinical management and counseling for women with obesity-related infertility. We highlight the significant impact of sleeve gastrectomy on physiological parameters in obese individuals, especially regarding reproductive health and metabolic regulation. The findings enhance understanding of the changes associated with bariatric surgery and its potential benefits for metabolic and reproductive health.

Genetic correlation between fetal nuchal translucency thickening and cystic hygroma and exploration of pregnancy outcome

Chromosome microarray analysis (CMA) and whole exome sequencing (WES) are increasingly utilized in prenatal diagnosis of abnormal ultrasound findings, but studies on correlation between pathogenic copy number variations (pCNVs) and single-gene mutations in fetuses with nuchal translucency (NT) thickening/cystic hygroma (CH), and pregnancy outcomes, are rare. This study aimed to investigate clinical value of CMA and WES for NT thickening/CH in fetuses, explore genetic correlation between fetal NT thickening and CH, and analyze pregnancy outcomes. We retrospectively selected 215 pregnant women diagnosed with fetal NT thickening (NT > 95th)/CH who underwent invasive prenatal diagnosis at our hospital from January 2020 to June 2022. With negative chromosomal karyotype analysis (KA) and CMA results, patients voluntarily underwent WES. Patients were grouped by NT thickening/CH, and application value of KA, CMA, and WES examined. Ultrasound findings, pregnancy outcomes, and fetal growth post-birth were followed during mid/late pregnancy and post-delivery. Abnormalities in chromosomal number were detected in 28 of 215 samples, with a detection rate of 13.0%, and pCNVs were detected in 12 cases, with a detection rate of 5.6%. The most common abnormality in fetuses from both groups suggested by CMA was 22q11.21 microdeletion-microduplication syndrome. 35 patients with negative KA and CMA results underwent WES, and single gene variants were detected in 12 fetuses, with an abnormality rate of 34.3%. The incidence of adverse pregnancy outcomes was 28.2% in the NT thickening group and 82.9% in the CH group (P < 0.05). Overall, fetal NT thickening/CH was associated with genetic abnormalities, WES further improved the diagnosis of abnormal fetuses after negative KA and CMA results in both groups, and the incidence of adverse pregnancy outcomes was lower in the NT thickening group than in the CH group. The management of pregnancy outcomes could guide clinical genetic counselling.

Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations

Background/Objectives: The pathogenetic role of 15q11.2 Copy Number Variations (CNVs) remains contentious in the scientific community, as microdeletions and microduplications in this region are linked to neurodevelopmental disorders with variable expressivity. This study aims to explore the diagnostic utility of Exome Sequencing (ES) in a cohort of pediatric patients with 15q11.2 CNVs. Methods: We enrolled 35 probands with 15q11.2 microdeletions or microduplications from two genetic centers between January 2021 and January 2023. Chromosomal Microarray Analysis (CMA) and ES were performed with written consent obtained from all parents. Pathogenic variants were classified according to ACMG guidelines. Results: CMA identified additional pathogenic CNVs in 3 of 35 children (9%). Subsequent ES revealed likely pathogenic or pathogenic variants in 11 of 32 children (34%). Notably, a higher percentage of isolated autism spectrum disorder (ASD) diagnoses was observed in patients without other CNVs or point mutations (p = 0.019). Conclusions: The ES analysis provided a diagnostic yield of 34% in this pediatric cohort with 15q11.2 CNVs. While the study does not dismiss the contribution of the CNV to the clinical phenotype, the findings suggest that ES may uncover the underlying causes of neurodevelopmental disorders. Continuous monitoring and further genetic testing are recommended for all 15q11.2 CNV carriers to optimize clinical management and familial counseling.

Phenotypic Analysis of the HBA2: C.95 G > A Mutation in China

This study aimed to analyze the clinical phenotype of the HBA2: c.95G>A mutation in the Chinese population and to provide guidance for clinical diagnosis and genetic counseling. Peripheral blood samples were collected from 16 patients, including 6 newborns, 2 children, and 8 adults. Hematological parameters and hemoglobin electrophoresis were analyzed, and genotypes were identified using methods such as PCR combined with reverse dot blot (RDB), nested PCR, gap polymerase chain reaction (Gap-PCR), and DNA sequencing. The results showed that 10 patients had mild anemia, 2 had moderate anemia, and 12 exhibited microcytic hypochromic features with MCV values ranging from 53 to 74.7 fl and MCH values from 16.2 to 25.4 pg. Additionally, 3 cases displayed obvious HbH + HbBarts bands (>15%). Among the 16 cases, various combinations of the HBA2: c.95G>A mutation were observed: one case had –α3.7 combined with HBA2: c.95G>A, another had –α4.2 combined with HBA2: c.95G>A, and five had –SEA combined with HBA2: c.95G>A, while the remaining cases were HBA2: c.95G>A heterozygotes. The study concludes that the HBA2: c.95G>A mutation in the α2 globin gene causes α+ thalassemia. When this mutation is combined with the Southeast Asian deletion (–SEA), it results in HbH disease, characterized by moderate microcytic hypochromic anemia and the presence of HbH + HbBarts bands.

Catalyzing IVF outcome prediction: exploring advanced machine learning paradigms for enhanced success rate prognostication

This study addresses the research problem of enhancing In-Vitro Fertilization (IVF) success rate prediction by integrating advanced machine learning paradigms with gynecological expertise. The methodology involves the analysis of comprehensive datasets from 2017 to 2018 and 2010–2016. Machine learning models, including Logistic Regression, Gaussian NB, SVM, MLP, KNN, and ensemble models like Random Forest, AdaBoost, Logit Boost, RUS Boost, and RSM, were employed. Key findings reveal the significance of patient demographics, infertility factors, and treatment protocols in IVF success prediction. Notably, ensemble learning methods demonstrated high accuracy, with Logit Boost achieving an accuracy of 96.35%. The implications of this research span clinical decision support, patient counseling, and data preprocessing techniques, highlighting the potential for personalized IVF treatments and continuous monitoring. The study underscores the importance of collaboration between gynecologists and data scientists to optimize IVF outcomes. Prospective studies and external validation are suggested as future directions, promising to further revolutionize fertility treatments and offer hope to couples facing infertility challenges.

Definition of Counseling and Psychotherapy: Interpretation and Controversy Regarding the Scope of Business of a Clinical Psychologist or Counseling Psychologist

Definition of Counseling and Psychotherapy: Interpretation and Controversy Regarding the Scope of Business of a Clinical Psychologist or Counseling Psychologist

An umbrella review of meta-analyses regarding the incidence of female-specific malignancies after fertility treatment.

Understanding the potential risks associated with fertility treatments (FTs) can guide clinical decision and patient counseling. To investigate the validity of the association between the development of female-specific malignancies including ovarian, endometrial, breast, and cervical cancer after FT. A search of systematic reviews and meta-analyses was performed from inception to April 2022 within several databases: Cochrane Database of Systematic Reviews, EMBASE, Google Scholar, and PubMed. The inclusion criteria required the incidence of each cancer subgroup to be stated in both the defined treatment group (controlled ovarian stimulation and/or invitro fertilization [IVF] or intracytoplasmic sperm injection) and the control group (no-FT, general population). From 3,129 identified publications, 11 meta-analytical reviews consisting of 188 studies were selected for synthesis. The primary outcome of interest was incidence of each subgroup of cancer in the "FT" group compared with the "no-FT" group. A statistically significant increase in incidence of ovarian (1,229/430,611 in FT group vs. 27,358/4,263,300 in no-FT group) cancer (odds ratio [OR], 1.21; 95% confidence interval [CI], 1.00-1.45) and borderline ovarian tumors (117/414,729 in FT group vs. 934/2,626,324 in no-FT group) (OR, 1.87; 95% CI, 1.18-2.97) was observed. The incidence of ovarian cancer was higher with FT and IVF specifically (OR, 1.65; 95% CI, 1.07-2.54). For borderline ovarian tumors, the incidence was higher, not only with FT overall and IVF, but also according to the fertility drug regimen applied: clomiphene citrate (CC) only (OR, 1.99; 95% CI, 1.02-3.87), human menopausal gonadotropin only (OR, 3.46; 95% CI, 1.39-8.59), and CC and human menopausal gonadotropin combined (OR, 3.79; 95% CI, 1.47-9.77). When using the threshold for statistical significance, the meta-analyses relevant to ovarian cancers remained statistically significant (random-effects method). However, none of the examined associations could claim either strong or highly suggestive evidence. An observed association between ovarian cancer (including borderline ovarian tumors) and FT has been demonstrated. The association between FT and female-specific malignancy remains a contentious topic because there have been contradictory outcomes among meta-analyses. This umbrella review interrogates existing systematic reviews and meta-analyses on this topic and concludes that a statistically significant increase in the incidence of ovarian cancer and borderline ovarian tumors is associated with FT. These findings have a significant clinical impact because it helps to inform and provide effective counseling for patients undergoing FT.

Breastfeeding in patients with peripartum cardiomyopathy: clinical outcomes and physician counseling

BackgroundPeripartum cardiomyopathy (PPCM) is a form of heart failure occurring towards the end of pregnancy or in the months following delivery. Concerns regarding the role of prolactin (the polypeptide hormone responsible for lactation) driving the pathogenesis of PPCM have led experts to discourage patients from breastfeeding; however, limited clinical data exist. We sought to (1) determine whether lactation was associated with less cardiac recovery and (2) assess the counseling about breastfeeding given to patients at the time of their initial diagnosis.MethodsPatients diagnosed with PPCM from 1999 to 2019 were identified through detailed chart review and demographic characteristics, comorbidities, outcomes, and lactation status were collected. Cardiac recovery was defined as left ventricular ejection fraction (LVEF) 55% or higher. A survey about breastfeeding and patient experience was administered by mail. Patients were only included in this analysis if definitive information about lactation status was documented.ResultsOf 220 patients with confirmed PPCM, lactation status was known definitively in 54 patients; of these, 18 (33%) had breastfed for at least 6 weeks and 36 (67%) did not breastfeed. There were no significant differences in the breastfeeding and non-breastfeeding groups related to baseline LVEF, age, race, gestational diabetes, smoking, hypertensive disorders of pregnancy, and medication treatments. Despite similar baseline LVEF at the time of diagnosis, there was no statistically significant difference in cardiac recovery based on lactation status. In a subset of patients with severe cardiac dysfunction at the time of diagnosis, there remained no significant differences in recovery based on lactation status. Of the 34 survey respondents, 62% were told not to breastfeed due to their diagnosis or concerns regarding safety of medications, and none were encouraged to breastfeed.ConclusionIn this retrospective cohort, lactation was not associated with lower rates of myocardial recovery. Importantly, a majority of patients had received counseling that they should not breastfeed. Future studies of the role of lactation in PPCM are needed in order to better understand the impact of breastfeeding and improve patient counseling.

The Feasibility and Acceptability of a Clinical Pharmacist-delivered Intervention to Reduce Bothersome Health Symptoms from Polypharmacy and Alcohol Use and Communicate Risk among People with HIV: Pilot Study Protocol.

Among persons with HIV (PWH), unhealthy alcohol use and polypharmacy contribute to bothersome symptoms (e.g., fatigue, dizziness, memory loss). However, effective risk communication targeting these associations is challenging. The HIV and Alcohol Research center focused on Polypharmacy (HARP) is conducting a pilot study that will generate feasibility and acceptability data on a clinical pharmacist-delivered counseling intervention targeting the modification of unhealthy alcohol use and polypharmacy in PWH. Counseling is guided by the Information-Motivation-Behavioral Skills-Motivational Interviewing (IMB-MI) model. Herein, we describe the study protocol. This pilot uses a one-group pre-test/post-test design. We will recruit 50 participants from those who participated in the consented cohort of the Veterans Aging Cohort Study. Participants must be prescribed ≥ 5 long-term medications, have a self-reported Alcohol Use Disorders Identification Test score > 0, and be living with HIV. We will exclude those with moderate-severe alcohol use disorder as identified by an Alcohol Symptom Checklist score ≥ 4. Data are collected using three self-administered surveys (baseline, immediately after booster intervention, and 30-days post-intervention), two PEth blood tests (baseline, 30 days post-intervention), and medication data from the electronic health record (baseline). The intervention includes a 60-minute IMB-MI-based counseling session followed by a booster session 2 weeks later. Some participants will also be asked to participate in a qualitative interview to provide feedback on the intervention. The pilot investigates the impact of an intervention on alcohol consumption and the use of multiple medications among PWH, exploring how best to reduce bothersome symptoms, communicate risk, and support behavior change in this population.

Association between hs-CRP/HDL-C ratio and three-month unfavorable outcomes in patients with acute ischemic stroke: a second analysis based on a prospective cohort study

ObjectiveThe associations between the ratio of blood high-sensitivity C-reactive protein (hs-CRP) to high-density lipoprotein cholesterol (HDL-C) (hs-CRP/HDL-C ratio) and outcomes in patients with acute ischemic stroke (AIS) have yet to be established. This study is the first to examine the relationship between the hs-CRP/HDL-C ratio and three-month unfavorable outcomes in patients with AIS.MethodsThis secondary analysis utilized data from a prospective cohort study involving 1559 AIS patients recruited at a South Korean hospital between January 2010 and December 2016. We constructed a binary logistic regression model to explore the association between the hs-CRP/HDL-C ratio and unfavorable outcomes in patients with AIS. An attempt was made to use a generalized additive model (GAM) with smooth curve fitting to elucidate potential nonlinear interactions. Furthermore, inflection points were identified via a recursive method, and binary logistic regression models were developed for each side of these inflection points. Ultimately, a log-likelihood ratio test was used to identify the most appropriate model for explaining the connection between the hs-CRP/HDL-C ratio and unfavorable outcomes in patients with AIS.ResultsThe incidence of unfavorable outcomes was 24.5%, with a median hs-CRP/HDL-C ratio of 3.64. After accounting for other factors, the binary logistic regression model revealed a statistically significant positive association between the hs-CRP/HDL-C ratio and the likelihood of poor outcomes in AIS patients (OR = 1.013, 95% CI: 1.005–1.022; P = 0.002). A nonlinear relationship was observed, with the first inflection point of the hs-CRP/HDL-C ratio at 42.74. Each 1-unit increase in the hs-CRP/HDL-C ratio was associated with a 2.4% greater risk of unfavorable outcomes (OR = 1.024, 95% CI: 1.011–1.038, P < 0.001).ConclusionThis study provides evidence of a positive and nonlinear correlation between the hs-CRP/HDL-C ratio and poor three-month functional outcomes in AIS patients. When the hs-CRP/HDL-C ratio was less than 42.74, a positive association was observed with the risk of unfavorable outcomes. This finding offers a reference for optimizing early individualized therapy and aids in clinical counseling for patients with AIS.

How Psychophysical Stress Can Mediate the Effects of Anxiety and Depression on the Overall Quality of Life and Well-Being in Women Undergoing Hereditary Breast Cancer Screening.

Background: Women undergoing genetic counseling for hereditary breast cancer often experience a high emotional burden. Distress and stress in the initial phases of genetic counseling can be significant predictors of long-term psychological health, influencing quality of life and well-being. Objectives: This study aimed to evaluate the mediating role of psychophysical stress in the relationship of anxiety and depression with quality of life and well-being in women undergoing genetic counseling for BRCA1/2 mutations. Methods: A sample of 193 women from two genetic counseling clinics was assessed using validated questionnaires measuring the psychological variables under study. Sociodemographic and clinical characteristics were also considered. Results: The results of path analyses indicated a mediating role of psychophysical stress on the relationship between emotional distress and mental quality of life and well-being: higher levels of anxiety and depression were associated with increased psychophysical stress, which, in turn, was linked to a reduced perceived mental quality of life and well-being. Depression was the only significant psychological predictor of physical quality of life. Conclusions: These findings indicate that addressing both anxiety and depression in genetic counseling is crucial for enhancing mental and overall well-being. Interventions should focus on stress management to improve the quality of life, emphasizing depression treatment to enhance physical health outcomes.

Religious savior-centered psychotherapy for depression: a focus on women’s well-being

ABSTRACT This study explores the effectiveness of Religious Savior-Centered Psychotherapy (RSCP) in treating depression in religious women. RSCP is a therapeutic approach that integrates Islamic teachings, particularly the concept of a Savior, with cognitive and behavioral strategies to address mental health challenges. Unlike traditional therapy models, RSCP emphasizes spiritual healing by fostering a strong connection to faith and a hopeful outlook for the future. The study aims to assess RSCP’s impact on depression in women by aligning with Islamic teachings and emphasizing positive future expectations. A pretest-posttest design with a two-month follow-up was employed to evaluate the effects of RSCP. The study included 70 women aged 18–60 from five counseling clinics in Tehran, all diagnosed with mild to moderate depression, and having expressed a belief in a Savior. MANCOVA was used to analyze the data, ensuring assumptions of normality and homogeneity of variances were met. MANCOVA results indicated a significant linear correlation between the treatment and depression levels (p < .05), with a large effect size (partial η2 = .61 for posttest and .54 for follow-up). Initial findings suggest RSCP’s potential benefit on mental well-being. RSCP has the potential to be integrated into existing mental health frameworks as a culturally sensitive option, particularly for Muslim women seeking faith-based approaches to mental health care. Future research with larger samples, randomized controlled trials, and longitudinal studies is needed to explore the effectiveness of this new positive psychotherapy approach.

Fetal Cortical Abnormalities Identified on Ultrasound.

Normal neuronal cell differentiation and migration is critical to brain formation, is rapidly occurring as the fetal brain develops, and peaks at the time of the routine ultrasound anatomic survey. Abnormalities in cortical migration can signify an underlying genetic abnormality or other fetal injury that can have a profound impact on future development. Although cortical migration peaks at 20-22 weeks, cortical migration abnormalities are rarely diagnosed at the time of the anatomic survey. We describe three cases of fetal cortical abnormalities in which prenatal ultrasound imaging was instrumental to making a prompt and accurate diagnosis in the mid-trimester and for guiding clinical counseling.

A Systematic Review of EEG and MRI Features for Predicting Long-Term Neurological Outcomes in Cooled Neonates With Hypoxic-Ischemic Encephalopathy (HIE).

Neonatal hypoxic-ischemic encephalopathy (HIE) represents a significant global disease burden, but more importantly, it leaves a lasting impact of disability on individual children and their families.HIE outcome prognostication is important for guiding clinical interventions and counseling families. The objective of this study was to systematically review early electroencephalogram (EEG) and magnetic resonance imaging (MRI) features associated with long-term neurological outcomes in infants after perinatal HIE. Articles were extracted from PubMed, CINAHL, and Scopus. Twenty studies were included that assessed EEG and/or MRI patterns in neonates who underwent therapeutic hypothermia and were followed to determine long-term outcomes. Articles that did not meet the inclusion criteria were excluded. Covidence review manager (Melbourne, Australia: Covidence) was used to extract, evaluate, and synthesize review results. Of the articles included, eight focused on EEG features, eight on MRI features, and four on assessments using both EEG and MRI. Abnormal EEG background and burst suppression severity were associated with poor outcomes. Higher MRI injury scores in the basal ganglia and thalamus were also correlated with poor outcomes. Finally, studies also revealed restricted diffusion and greater lesion size in the subcortical gray matter correlated with poor outcomes. We also identified limitations in the included studies which primarily involved sample size, potential for MRI pseudonormalization, and the potential tradeoff between retention of infants able to receive long-term follow-up and attrition of those lost to follow-up. We conclude that EEG background patterns, MRI scoring, subcortical lesion burden, and MRI diffusivity are sensitive metrics for predicting outcomes. Both early EEG and MRI features may serve as high-fidelity biomarkers for secondary energy failure and for counseling families of neonates at high risk for devastating neurologic outcomes. Additionally, there is a paucity of information on the impact of HIE on brain areas outside of the standard clinical basal-ganglia and watershed patterns, especially in locations like the corpus callosum. Finally, MRI pseudonormalization may underestimate the extent of injury in these studies.

Clinical and genetic analysis of a child with Spondyloocular syndrome due to compound heterozygous variants of XYLT2 gene

To explore the clinical characteristics and genetic etiology of a child with Spondyloocular syndrome (SOS) in order to enhance the awareness and understanding of this disease. A 3.5-year-old boy with SOS who had presented at the Department of Medical Genetics of Hunan Children's Hospital on August 10, 2023 due to the repeated fractures for over 2 years and after binocular cataract surgery was selected as the study subject. Clinical data of his pedigree were collected, and peripheral venous blood samples were collected for the extraction of genomic DNA and subjected to trio-whole exome sequencing. Candidate variants were verified by Sanger sequencing and analyzed with bioinformatic software. This study was approved by the Medical Ethics Committee of Hunan Children's Hospital (Ethics No. KYAQ2022-263). The child had manifested repeated fractures, bilateral bowed femur, osteoporosis, cataract, atrial septal defect, and developmental delay. Ultrasonography has revealed fetal edema, peritoneal effusion, pleural effusion and polyhydramnios. Trio-whole exome sequencing and Sanger sequencing revealed that he has harbored compound heterozygous variants of the XYLT2 gene, namely c.1103_1104delAG (p.Gln368Argfs*8) and c.1238_1253delinsA (p.Val413_Pro418delinsGlu), which were inherited from his phenotypically normal father and mother, respectively. Neither variant was reported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and recommendations from the Clinical Genome Resource (ClinGen), the c.1103_1104delAG was predicted as a pathogenic variant (PVS1+PM2_Supporting+PP4), whilst the c.1238_1253delinsA was predicted as a likely pathogenic variant (PM4+PM3+PM2_Supporting+PP4). The c.1103_1104delAG and c.1238_1253delinsA compound heterozygous variants of the XYLT2 gene probably underlay the pathogenesis in this child. Above finding has enriched the phenotypic and mutational spectrum of SOS, and provided a basis for the clinical diagnosis, treatment, prognosis assessment and genetic counseling for this pedigree.

Moving Towards Ethical-Practical Recommendations for Alzheimer's Disease Prediction: Addressing Interindividual, Interprofessional, and Societal Aspects.

Biomarkers for predicting Alzheimer's disease (AD) are advancing and their implementation in various healthcare systems is imminent. There is a need for ethical standards addressing information needs, socio-ethical concerns, and expectations of healthy and at-risk persons. We present an ethical approach that integrates different existing ethical frameworks and discussion of our empirical, cross-cultural findings in a multi-layered perspective by addressing three levels. The micro-level focuses on the communication between counseling professionals, persons at risk or in an early stage of dementia, and family members. The meso-level addresses interprofessional cooperation and exchange as a key element for best person-centered care. The macro-level considers public health promotion, the media, and public-funded research. This approach allows to address key ethical concepts including beneficence, non-maleficence, autonomy, informational self-determination, empowerment, and justice. Our contribution specifically examines the ethical challenges associated with AD prediction by means of biomarkers, based on insights from a German-Israeli comparison, and promotes a transdisciplinary discussion across different healthcare contexts. We propose a reflection on three levels to go beyond the clinical counseling context and to consider the rapidly evolving field of biomarkers in the coming years. Our ethical-practical recommendations should not be considered final, but rather procedural and will require continuous adaptation regarding culturally varying practices, new algorithms, meta-analyses, and re-evaluation of established recommendations.

8507 Misdiagnosis of Graves’ and RAI Treatment in Patient with THRB Gene Mutation

Abstract Disclosure: E. McBride: None. R. Kennedy: None. A.N. Davis: None. S.J. Healy: None. Introduction: Resistance to thyroid hormone (RTH) is an inherited condition in which there is decreased tissue responsiveness to thyroid hormone. Occasionally patients with this condition can be misdiagnosed with hyperthyroidism.Clinical case: A 35 yo female was referred to our clinic for evaluation of postablative hypothyroidism. 6 years prior, the patient was evaluated by endocrinology at our city’s army hospital. The patient had abnormal TFTs during HTN workup but was otherwise asymptomatic. Family history included goiter in paternal aunt and grandmother (s/p thyroidectomy). Labs showed TSH 0.370 mIU/L (0.3-3); FT4 2.01, repeat 1.96 ng/dl (0.6-1.6); FT3 6.10 pg/ml (2.3-4.4); T4 16.2 mcg/dl (4.5-12); alpha subunit 0.32ng/ml; TBG 31 mcg/ml (13-39). On exam patient had thyromegaly. Thyroid US showed normal gland with length 5.6 cm. Subsequent labs showed negative thyroglobulin ab, antithyroid microsomal ab, TBII, and TSI. Resistance to thyroid hormone (RTH) was suspected. Pt underwent RTH mutation analysis. Result was heterozygous for c.715T&amp;gt;A (pTrp239Arg) in exon 7 of the THRB gene, described as variant of unknown significance. Treatment was not recommended. Patient desired pregnancy and was evaluated by our hospital’s MFM clinic for preconception counseling. Per notes, patient had another child who tested negative for the gene.Patient then moved out of state, and 1 year later she underwent ablation for presumed diagnosis of Graves’ disease. The records from that hospital are not available. Patient later moved back to our city and was evaluated in clinic. At that visit, weight was 44 kg and patient was on 200 mcg LT4 daily. Pt endorsed cold intolerance, mood swings, brain fog, some hair loss. Recent thyroid US showed diminutive thyroid, and outside labs showed TSH 7.288, TPO ab &amp;lt;4. Our labs showed TSH 8.6 and FT4 2.05. Pt was still interested in becoming pregnant. She did not recall the prior genetic testing or diagnosis of RTH, and believed that she had Graves’. Patient did not return for follow up visit and later moved out of state.Conclusions: Patient’s labs showed elevated T4 and T3 with normal TSH. Genetic testing revealed a mutation in THRB gene. The normal codon is TGG coding for tryptophan and mutation in this patient is AGG coding for arginine. Other mutations in this same codon result in reduced T3 binding affinity.This patient was later was misdiagnosed as having Graves’ at an outside hospital, presumably due to labs and increased thyroid uptake. Patient underwent unnecessary RAI treatment. It is common for these patients to require higher than expected doses of thyroid hormone.This case illustrates the importance of obtaining outside records and correlating thyroid function tests with imaging studies. It is a reminder that not all cases of increased thyroid uptake are due to Graves’. Management of thyroid hormone can be challenging in patients with RTH who have undergone ablation. Presentation: 6/3/2024