Counsel

Valproate is the most effective treatment for idiopathic generalised epilepsy. Current guidance precludes its use in women of childbearing potential, unless other treatments are ineffective or not tolerated, because of high teratogenicity. This risk was recently extended to men. New guidance will limit use both in men and women aged <55 years, resulting in withdrawal of valproate from men already taking it, as occurs for women. Whether there are risks of personal harm (including injury or death) associated with valproate withdrawal has not yet been quantified for men or women on valproate, meaning clinicians cannot reliably counsel either sex when discussing valproate withdrawal with them, despite that this concern may be at the forefront of patients' and clinicians' minds...

We developed a motivational interviewing (MI) counselling training and support program for lay counsellors in South Africa-branded "Thusa-Thuso-helping you help", commonly referred to as Thusa-Thuso. We present the results of a pilot study to determine the program's impact on MI technical skills and qualitatively assess the feasibility of a training-of-trainers (TOT) scale-up strategy among counselling staff of non-governmental (NGO) support partners of the human immunodeficiency virus (HIV) treatment program in South Africa...

The Achieving Success Everyday (ASE) group counseling model is discussed to support homeless students' unique and complex needs. The phenomenology of student homelessness is reviewed, as well as how residential and environmental instability negatively impacts students' academic and psychosocial functioning. Social support for homeless students is also discussed. Next, the ASE group model is described in detail and existing research on its application in school settings is reviewed. Implications for research and practice are provided as they may influence future efforts to support homeless students...

OBJECTIVES: To develop consensus data statements and clinical recommendations to provide guidance for improving cardiometabolic health outcomes in people with HIV based on the knowledge and experience of an international panel of experts. METHODS: A targeted literature review including 281 conference presentations, peer-reviewed articles, and background references on cardiometabolic health in adults with HIV published between January 2016 and April 2022 was conducted and used to develop draft consensus data statements...

PURPOSE: Undifferentiated carcinoma of the esophagus (UEC) is a rare malignancy. Deficiency in SMARCA genes, critical for chromatin regulation, has been observed in cases of UEC. Research in UEC is sparse, however, and we present a case series along with a comprehensive review of the literature. CASE SERIES: Case 1 is a 49-year-old female with abdominal pain and dysphagia and esophagogastroduodenoscopy (EGD) showing a friable mass at the gastroesophageal (GE) junction...

Leadership is emerging as an important component of health professional training. This study aimed to characterize current leadership development in accredited genetic counseling programs. Semi-structured interviews with program leadership were conducted to explore their program's leadership curricula and their perspectives on the meaning of leadership and its place in genetic counseling training. Eleven interviews were conducted and focused on seven categories related to study goals. Using the Framework Method, themes were generated within the predefined categories...

INTRODUCTION: Financial health is related to the overall health of an individual and their family. The objective of this study was to evaluate the scientific production on financial health in the Scopus database for the 2011-2022 period. METHOD: Scoping review of manuscripts published in journals indexed in the Scopus database between the years 2011 and 2022. The following search terms were used: "Financial obligations", "financial inclusion", "family economy", "financial education", "financial literacy", "financial wellness" and "financial stress", which were entered in the Scopus search engine together with the Boolean operators (AND, OR)...

Objective: The article aims to provide genetic counseling to a family with two children who were experiencing growth and developmental delays. Methods: Clinical information of the proband was collected. Peripheral blood was collected from core family members to identify the initial reason for growth and developmental delays by whole exome sequencing (WES) and Sanger sequencing. To ascertain the consequences of the newly discovered variants, details of the variants detected were analyzed by bioinformatic tools...

Heritable pulmonary arterial hypertension (HPAH) is a rare progressive condition that includes patients with an identified genetic cause of pulmonary arterial hypertension (PAH). HPAH and idiopathic PAH (IPAH) have an estimated combined incidence of 0.5-0.9 cases per million children-years. Several pathogenic variants have been associated with HPAH in children and adults, including genes BMPR2 , TBX4 , and  ACVRL1 , and more rarely with variants in genes such as SOX17 . HPAH is often difficult to manage and has poor prognosis despite advances in medical therapy with many patients progressing to lung transplantation, right heart failure and death...

OBJECTIVES: Spinal muscular atrophy (SMA) is an autosomal recessive disease that is one of the most common in childhood neuromuscular disorders. Our screenings are more meaningful programs in preventing birth defects, providing a significant resource for healthcare professionals, genetic counselors, and policymakers involved in designing strategies to prevent and manage SMA. METHOD: We screened 39,647 participants from 2020 to the present by quantitative real-time PCR, including 7,231 pre-pregnancy participants and 32,416 pregnancy participants, to detect the presence of SMN1 gene EX7 and EX8 deletion in the DNA samples provided by the subjects...

BACKGROUND: Sciatic nerve palsy is a rare but devastating complication following total hip arthroplasty (THA). While the use of the direct anterior approach is increasing, limited data exist regarding sciatic nerve palsy and surgical approach. The purpose of this study was to determine the factors and outcomes associated with sciatic nerve palsy (SNP) after THA. METHODS: A retrospective analysis was performed at a single institution of 7 SNP that occurred in 4045 THA via direct anterior approach and 10 SNP in 8854 THA via posterior approach, being operated between 01 January 2017 and 12 December 2021...

In Vietnam and the Philippines, viral hepatitis is the leading cause of cirrhosis and liver cancer. This study aims to understand the barriers and enablers of people receiving care for hepatitis B and C to support both countries' efforts to eliminate viral hepatitis as a public health threat by 2030. Retrospective, semi-structured interviews were conducted with a purposive, quota-based sample of 63 people living with hepatitis B or C in one province of Vietnam and one region of the Philippines. A rapid deductive approach to thematic analysis produced key findings among the three phases of care: (1) pre-awareness and testing, (2) linkage and treatment initiation and (3) ongoing treatment and recovery...

OBJECTIVE: To compare the risk of intrapartum cesarean delivery (CD) between patients with twin and singleton pregnancies undergoing a trial of labor and identify risk factors for intrapartum CD in twin pregnancies. METHODS: The present study was a retrospective cohort study of patients with a twin or singleton pregnancy who underwent a trial of labor at ≥340/7 weeks in a single center (2015-2022). The primary outcome was the rate of intrapartum CD. In twin pregnancies, this outcome was limited to CD of both twins...

BACKGROUND: Tobacco smoking exacerbates diabetes-related complications; its prevalence is notwithstanding substantial. Persons with diabetes face a number of barriers and challenges to quitting such as multiple lifestyle restrictions; tailored interventions are required for smoking cessation. OBJECTIVE: To identify research on behavioral interventions for smoking cessation in diabetes. METHODS: Studies had to be randomized controlled trials, quasiexperimental or systematic reviews...

BACKGROUND Bariatric surgery (BS) has a lower percentage of complications than other abdominal surgeries. Hemorrhage in one of the most common complications and can be life-threatening. Hereditary factor XI (FXI) deficiency is a coagulation disorder that can result in excessive bleeding requiring intervention to restore hemostasis. Risks over benefits in patients with morbid obesity with BS indication, as well as those with FXI deficiency, should be carefully evaluated. This article reports the case of an obese woman with FXI deficiency -undergoing SG...

Multigene panel testing now allows efficient testing of many cancer susceptibility genes leading to a larger number of mutation carriers being identified. They need to be counseled about their cancer risk conferred by the specific gene mutation. An important cancer susceptibility gene is PALB2. Multiple studies reported risk estimates for breast cancer (BC) conferred by pathogenic variants in PALB2. Due to the diverse modalities of reported risk estimates (age-specific risk, odds ratio, relative risk, and standardized incidence ratio) and effect sizes, a meta-analysis combining these estimates is necessary to accurately counsel patients with this mutation...

Informed by integrative models of cultural resilience, the purpose of this study was to (a) explore how parents are promoting their children's emotional and physical health, with a focus on race and ethnic-racial socialization strategies, and (b) identify the barriers and challenges parents are experiencing in supporting their children's health. Ethnically racially matched qualitative interviews were conducted with 33 parents (82% women, 64% Black, 36% Latiné). Results of thematic analysis revealed three overarching themes: (a) Strategies for Promoting Children's Physical and Emotional Health, (b) Challenges Promoting Children's Physical and Emotional Health, and (c) Impact of Racism on Parenting and Children's Health...

BACKGROUND: According to recent research, the Internet and social media are shaping and changing how we die and mourn. However, the use of social media after bereavement by suicide remains poorly understood. Thus, emerging research is needed to better assess the role that social media can play after bereavement by suicide. The objective of our study was to evaluate the use of social media in French people bereaved by suicide and to assess their expectations toward social media. METHOD: We conducted a national cross-sectional online survey including French people bereaved by suicide assessing their use of social media after the death of their relative...

Sex chromosome aneuploidies are among the most common variations in human whole chromosome copy numbers, with an estimated prevalence in the general population of 1:400 to 1:1400 live births. Unlike whole-chromosome aneuploidies of autosomes, those of sex chromosomes, such as the 47, XXY aneuploidy that causes Klinefelter Syndrome (KS), often originate from the paternal side, caused by a lack of crossover (CO) formation between the X and Y chromosomes. COs must form between all chromosome pairs to pass meiotic checkpoints and are the product of meiotic recombination that occurs between homologous sequences of parental chromosomes...

PURPOSE: This study assessed the safety and effectiveness of a technical modification that involves adding short gastric artery (SGA) embolization to left gastric artery (LGA) embolization. MATERIAL AND METHODS: This retrospective single-center study analyzed twenty obese patients (median age of 53.5 (30-73)) who were not eligible for bariatric surgery and underwent bariatric embolization with 300-500-µm microspheres in addition to a lifestyle counseling program between March 2021 and July 2022...