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All urologists have faced patients suffering a renal cancer asking for the occurrence of the disease in their offspring and very often the answer to this question has not been well founded from the scientific point of view, and only in few cases a familial segregation tree is performed. The grate shift seen in the detection of small renal masses and renal cancer in the last decades will prompt us to know the indications for familial studies, which and when are necessary, and probably to refer those patients with a suspected familial syndrome to specialized oncological centers where the appropriate molecular and familial studies could be done. Use of molecular genetic testing for early identification of at-risk family members improves diagnostic certainty and would reduce costly screening procedures in at-risk members who have not inherited disease-causing mutations. This review will focus on the molecular bases of familial syndromes associated with small renal masses and the indications of familial studies in at-risk family members.
Medication adherence in glaucoma patients remains sub-par despite proven benefits of regular administration. The objective was to analyze medication adherence before and after lifestyle counseling in patients with ocular hypertension (OHT) or primary open-angle glaucoma (POAG) (mild, moderate, severe).
Monogenic diseases that result in early pregnancy loss or neonatal death are genetically and phenotypically highly variable. This often poses significant challenges in arriving at a molecular diagnosis for reproductive planning. Molecular autopsy by proxy (MABP) refers to the genetic testing of relatives of deceased individuals to deduce the cause of death. Here, we specifically tested couples who lost one or more children/pregnancies with no available DNA. We developed our testing strategy using whole exome sequencing data from 83 consanguineous Saudi couples. We detected the shared carrier state of 50 pathogenic variants/likely pathogenic variants in 43 families and of 28 variants of uncertain significance in 24 families. Negative results were seen in 16 couples after variant reclassification. In 10 families, the risk of more than one genetic disease was documented. Secondary findings were seen in 10 families: either genetic variants with potential clinical consequences for the tested individual or a female carrier for X-linked conditions. This couple-based approach has enabled molecularly informed genetic counseling for 52% (43/83 families). Given the predominance of autosomal recessive causes of pregnancy and child death in consanguineous populations, MABP can be a helpful approach to consanguineous couples who seek counseling but lack molecular data on their deceased offspring.
The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession of genetic counseling in individual countries or regions, data remains incomplete and has been published in diverse journals with limited access. As a result of the 2016 Transnational Alliance of Genetic Counseling (TAGC) conference in Barcelona, Spain, and the 2017 World Congress of Genetic Counselling in the UK, we endeavor to describe as fully as possible the global state of genetic counseling as a profession. We estimate that in 2018 there are nearly 7000 genetic counselors with the profession established or developing in no less than 28 countries.
X-linked ornithine transcarbamylase deficiency (OTCD) often leads to fatal neonatal hyperammonemia in affected males (hemizygotes). In prenatal management of subsequent pregnancies, families carrying female fetuses are often reassured of the low risk of clinically overt disease. We suggest that such reassurance may be misleading. While OTCD heterozygotes may show no symptoms or only mild protein intolerance, the clinical course in a fraction of children can include manifestations similar to those in affected males. We present three cases of symptomatic and previously undiagnosed OTCD heterozygotes to illustrate the potential severity of this condition. Significant improvement in function and growth followed diagnosis and treatment; however, two of the three children remain significantly developmentally delayed. While a quantitative risk estimate cannot be derived from these data, the cases are indicative of an adverse outcome in manifesting heterozygotes. Accordingly, OTCD carrier families should be counseled regarding the possibility of significant hyperammonemia, neurologic deficit, and the need for pharmacologic and dietary intervention in their heterozygote daughters.
Physicians are encouraged to counsel obese patients to lose weight, but studies measuring the quality of physicians' counseling are rare. We sought to describe the quality of physicians' obesity counseling and to determine associations between the quality of counseling and obese patients' motivation and intentions to lose weight, key predictors of behavior change.
Rapid advancements of genome sequencing (GS) technologies have enhanced our understanding of the relationship between genes and human disease. To incorporate genomic information into the practice of medicine, new processes for the analysis, reporting, and communication of GS data are needed. Blood samples were collected from adults with a PCR-confirmed SARS-CoV-2 (COVID-19) diagnosis (target N = 1500). GS was performed. Data were filtered and analyzed using custom pipelines and gene panels. We developed unique patient-facing materials, including an online intake survey, group counseling presentation, and consultation letters in addition to a comprehensive GS report. The final report includes results generated from GS data: (1) monogenic disease risks; (2) carrier status; (3) pharmacogenomic variants; (4) polygenic risk scores for common conditions; (5) HLA genotype; (6) genetic ancestry; (7) blood group; and, (8) COVID-19 viral lineage. Participants complete pre-test genetic counseling and confirm preferences for secondary findings before receiving results. Counseling and referrals are initiated for clinically significant findings. We developed a genetic counseling, reporting, and return of results framework that integrates GS information across multiple areas of human health, presenting possibilities for the clinical application of comprehensive GS data in healthy individuals.
Strong evidence exists regarding multiple benefits of physical activity among cancer patients. Patients undergoing esophagectomy received counseling for physical activity by a nurse and instructions to keep a diary of physical activities before surgery, followed by 2 counseling sessions after surgery. Physical activity, body mass index, psychological distress, and quality of life were measured at baseline, 2-4 weeks, and 3 and 6 months after discharge. Of 29 participants (mean age = 65.9 years), 72.5% underwent thoracoscopic esophagectomy in the prone position with 3-field lymphadectomy. The results of the International Physical Activity Questionnaire indicated that postoperative physical activity returned to nearly preoperative level, and the number of inactive patients gradually decreased by half at 6 months after discharge. Quality of life scores, except those for role function and social function, tended to return to the baseline at 6 months after discharge. Psychological distress measured by the Kessler 6 remained lower than the baseline, whereas the mean score of body mass index gradually declined after discharge. Patients undergoing esophagectomy and receiving nurse counseling can return to preoperative physical activity level in their daily lives after surgery. Nurses should integrate physical activity promotion into cancer care.
University counseling services (UCSs) are actively involved in mental health assessment and in supplying interventions aimed at preventing, facing and possibly overcoming psychological problems. However, we do not have a global overview of psychological counseling among universities. This systematic review aims at reviewing the literature on university psychological counseling, including articles documenting: (1) mental health and attitudes regarding help-seeking behaviors and UCSs among university students or counselors, (2) the description of protocols/services among UCSs, (3) the efficacy of psychological counseling/interventions among university students (both face-to-face and internet-delivered interventions). The study followed PRISMA guidelines and was registered on PROSPERO. After defining inclusion and exclusion criteria, a literature search was conducted, identifying 7085 records. Finally, 152 articles met the review eligibility criteria and were included in the qualitative synthesis. Results are divided into seven thematic topics that emerged during the analysis of the literature. The results mainly showed that face-to-face and web-based counseling/psychological interventions improve university students' mental health. Cross-sectional studies showed that many biases exist toward help-seeking behaviors, especially among international students. Both students and counselors must strive to overcome cultural barriers. Available resources for UCSs are scarce and need to be strengthened, as well as efficacy studies through randomized clinical trials.
Genetic blood disorders are common in Arab countries which are related to many physical and mental disorders. Premarital counseling has been one of the strongest ways to prevent hereditary diseases. It can provide a capability to intervene according to identified risks, vaccinations, genetic consulting, nutrition, consulting regarding behavior and advice regarding contraception. This study aimed to assess university students' knowledge, attitude and practice of pre-marital counseling (PMC) in king Khalid University.
Health care providers are the most influential and trusted source of information about breastfeeding, yet many are neither prepared nor able to provide good breastfeeding counseling to their clients. This paper reports findings on low-income mothers' and on providers' perceptions of professional breastfeeding counseling. Data collection included focus group discussions with mothers recruited from public health department clinics in the Southeast USA and who were stratified by age, parity, rural/urban residence and feeding method, and focus groups and individual interviews were conducted with health care providers from the same geographic area. The results of the study indicate a gap between the promotion and support processes for breastfeeding, and point to areas where breastfeeding counseling can be strengthened.
: Genetic counseling applied to limb-girdle muscular dystrophies (LGMDs) can be very challenging due to their clinical and genetic heterogeneity and the availability of different molecular assays. Genetic counseling should therefore be addressed to select the most suitable approach to increase the diagnostic rate and provide an accurate estimation of recurrence risk. This is particularly true for families with a positive history for recessive LGMD, in which the presence of a known pathogenetic mutation segregating within the family may not be enough to exclude the risk of having affected children without exploring the genetic background of phenotypically unaffected partners. In this work, we presented a family with a positive history for LGMD2A (OMIM #253600, also known as calpainopathy) characterized by compound heterozygosity for two CAPN3 mutations. The genetic specialist suggested the segregation analysis of both mutations within the family as a first-level analysis. Sequentially, next-generation sequencing (NGS) analysis was performed in the partners of healthy carriers to provide an accurate recurrence/reproductive risk estimation considering the genetic background of the couple. Finally, this work highlighted the importance of providing a genetic counseling/testing service even in unaffected individuals with a carrier partner. This approach can support genetic counselors in estimating the reproductive/recurrence risk and eventually, suggesting prenatal testing, early diagnosis or other medical surveillance strategies.
The role of the counselor's experience in building an alliance with the clients remains controversial. Recently, the expanding nascent studies on interpersonal brain synchronization (IBS) using functional near-infrared spectroscopy (fNIRS) on human subjects have hinted at the possible neural substrates underlying the relationship qualities between the counselor-client dyads. Our study assessed the clients' self-report working alliance (WA) as well as simultaneously measured IBS by fNIRS in 14 experienced versus 16 novice counselor-client dyads during the first integrative-orientation psychological counseling session. We observed that synchronous brain activity patterns were elicited from the right temporo-parietal junction (rTPJ) across counselor-client dyads. Furthermore, such IBS, together with alliance quality, was especially evident when counselors had more psychotherapy experience. Time-lagged counselor-client brain synchronization might co-vary with the alliance (goal component) when the client's brain activity preceded that of the counselor. These findings favor the notion that the IBS between counselor-client associated with the WA is an experience-dependent phenomenon, suggesting that a potential adaptive mechanism is embedded in psychological counseling.
Background: Providers of sexual health services play an important role in counseling persons at risk of acquiring HIV. The aim of the present study was to investigate the knowledge of and attitudes toward HIV pre-exposure prophylaxis (PrEP) among counselors in non-governmental counseling centers ("NG counseling centers") and in counseling centers of the local health authorities ("local health offices") in Germany and to determine the extent to which PrEP plays a role in their current counseling practice. Methods: An anonymous cross-sectional study using an online questionnaire was conducted among counselors from sexual health centers across Germany. All NG counseling centers in Germany offering HIV testing were asked to participate. For each NG counseling center, a local health office in the same city was also invited. A "knowledge score" and an "attitudes score" were calculated from single items on various relevant aspects. The association of these scores with the proportion of PrEP advice provided proactively in sessions with men who have sex with men (MSM) and trans persons who met the German and Austrian guideline criteria for being offered PrEP ('at-risk clients') was quantified. Results: From Oct. to Dec. 2018, 145 counselors completed the survey. Both self-assessed knowledge of PrEP and attitudes toward PrEP were greater or more positive among counselors from NG counseling centers compared with counselors from local health offices [Median knowledge score (range 0-20): 18.0 (IQR = 5.0) vs. 14.0 (IQR = 4.0), p < 0.001; median attitudes score (range 0-20): 18.0 (IQR = 4.0) vs. 14.0 (IQR = 6.8), p < 0.001]. The proportion of PrEP advice provided proactively in sessions with at-risk clients was larger in counseling centers than in local health offices [50.0% (IQR = 60.0) vs. 30.0% (IQR = 70.0); p = 0.003]. The results of the multiple linear regression model indicate that knowledge and attitudes of the individual counselors, but not the type of center in which they worked, were independent predictors of the proportion of proactive advice on PrEP. Conclusions: There is room for improvement in the current PrEP counseling practice of sexual health services in Germany. The findings of the present study suggest opportunities to improve the implementation of PrEP as part of a comprehensive HIV prevention strategy.
Despite a large evidence base to demonstrate the health benefits of regular physical activity (PA), few physicians incorporate PA counseling into office visits. Inadequate medical training has been cited as a cause for this. This review describes curricular components and assesses the effectiveness of programs that have reported outcomes of PA counseling education in medical schools.
Advances in amyotrophic lateral sclerosis (ALS) gene discovery, ongoing gene therapy trials, and patient demand have driven increased use of ALS genetic testing. Despite this progress, the offer of genetic testing to persons with ALS is not yet "standard of care." Our primary goal is to develop clinical ALS genetic counseling and testing guidelines to improve and standardize genetic counseling and testing practice among neurologists, genetic counselors or any provider caring for persons with ALS.
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