Adequate Counseling Research Articles

Novel postzygotic RASA1 mutation in a patient with Parkes Weber syndrome: A case report and literature review.

Not only germline but also postzygotic mutations in the RASA1 or EPHB4 genes can lead to capillary malformation-arteriovenous malformation (CM-AVM) syndrome. As it is not always possible to clinically distinguish between constitutional variants and postzygotic mosaicism, a sufficiently high sequencing depth must be used in genetic diagnostics to detect both. Capillary malformation-arteriovenous malformation (CM-AVM) syndrome, with or without Parkes Weber syndrome, is a rare autosomal dominant disease caused by pathogenic RASA1 or EPHB4 variants. Up to 80% of CM-AVM cases have an affected parent. Gene panel sequencing was performed for a 4-year-old girl with multiple CMs, two capillary stains on the left leg, and associated overgrowth of the second toe. We also reviewed published cases with mosaic RASA1 and EPHB4 mutations. A mosaic RASA1 loss-of-function mutation was detected with a variant allele frequency (VAF) of 20% in the blood and oral epithelial cells of the index patient. The literature review illustrates that the severity of the clinical phenotype does not correlate with the VAF. We also identified a germline nonsense variant in the patient's TEK gene. However, inactivating TEK variants do not cause a vascular phenotype but can confer an increased risk for primary congenital glaucoma with variable expressivity. The case presented here illustrates that the choice of the sequencing depth of a diagnostic next-generation sequencing test for CM-AVM patients should always take mosaicism into account and that a good knowledge of the sequenced genes and associated disease mechanisms is necessary for adequate genetic counseling.

“We provide the methods to others but we don’t use the methods ourselves”: challenges with utilization of modern contraception among Female Healthcare Workers at two tertiary teaching hospitals, Northern Uganda

BackgroundFemale Healthcare Workers (FHCWs) play a crucial role in advocating for, delivering modern contraceptive methods (MCM) to reproductive-age women and potential users. Despite the high frequency of women seeking healthcare annually, less than half receive adequate contraceptive counseling and services. Investigating FHCWs’ adherence to these practices and understanding the obstacles they encounter is essential. This study aimed to explore challenges with utilization of MCM among FHCWs at the two tertiary teaching hospitals in Northern Uganda.MethodsWe conducted a descriptive, cross-sectional study employing a qualitative approach at St. Mary’s Hospital Lacor (SMHL) and Gulu Regional Referral Hospital (GRRH), Northern Uganda. Qualitative data were explored using the principles of descriptive phenomenology to gain deeper insights into the experiences of twenty (20) FHCWs.ResultsFindings revealed various challenges faced by FHCWs, including patient barriers such as religious beliefs, contraceptive myths, fear of side effects, and provider barriers like lack of knowledge, training, and discomfort. Additionally, health system barriers like limited time and competing priorities were identified.ConclusionFemale Healthcare workers experience challenges with utilization of MCM. Efforts should focus on enhancing contraceptive services, particularly in faith-based facilities and among married individuals. Besides, addressing perceived barriers at the patient, provider, and system levels through comprehensive health education, ensuring method availability, and provider training is imperative.

FIGO position statement on opportunistic salpingectomy as an ovarian cancer prevention strategy.

Epithelial ovarian cancer, with the highest mortality rate among gynecologic malignancies, often goes undetected until advanced stages due to non-specific symptoms. Traditional prevention strategies such as bilateral salpingo-oophorectomy (BSO) are limited to high-risk women and induce surgical menopause, often leading to significant health concerns. Recent findings suggest that many serous epithelial ovarian cancers originate in the fallopian tubes rather than the ovaries. This has led to the hypothesis that salpingectomy, with preservation of the ovaries, may reduce the risk of ovarian cancer while avoiding the adverse effects of early menopause. Studies show that bilateral salpingectomy (BS) significantly reduces ovarian cancer incidence even in average-risk women. Bilateral salpingectomy has been demonstrated to be safe with minimal added operative time, no adverse effects on ovarian function and is also cost effective. Opportunistic salpingectomy (OS), at the time of non-gynecologic surgeries, is a promising strategy for reducing ovarian cancer risk, especially among average-risk women who have completed childbearing. It offers a safe and cost-effective alternative to traditional methods. Emerging data supports incorporating OS into standard surgical practices for benign gynecologic conditions and considering it during unrelated abdominal/pelvic surgeries after adequate patient counseling and informed consent. Further training of non-gynecologic surgeons in OS is recommended to expand its preventive benefits.

Correlation of adenomyosis features to live birth rates after the first IVF/ICSI treatment, when using the revised Morphological Uterus Sonographic Assessment group definitions.

Data regarding the impact of adenomyosis on the outcomes after invitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) treatment are conflicting. Standardized diagnostic criteria are prerequisites for studying a potential association between adenomyosis and IVF/ICSI treatment outcomes. This study aims to examine the cumulative live birth rate (CLBR) after the first IVF/ICSI treatment in women with or without direct or indirect features of adenomyosis, using the revised Morphological Uterus Sonographic Assessment (MUSA) group definitions. This was a prospective cohort study of 1037 women aged 25-≤39 years, undergoing their first IVF/ICSI treatment between January 2019 and October 2022. The presence of MUSA features of adenomyosis was assessed prior to treatment start. The CLBR after the first IVF/ICSI treatment was 424/1037 (40.9%, 95% CI, 37.9-43.8) in the total cohort. Women with direct features of adenomyosis had lower CLBR, 25/102 (24.5%; 95% CI, 17.5-31.5) than women without, 399/935 (42.7%; 95% CI, 39.5-45.8), p < 0.001. The adjusted relative risk (aRR) for live birth for women with direct features of adenomyosis compared to women without was 0.62 (95% CI, 0.43-0.88), p = 0.007. Direct features were associated with a higher risk of miscarriage after frozen embryo transfer, aRR 2.88 (95% CI, 1.49-5.57), p = 0.002. Women with indirect features had a lower CLBR [50/188 (26.6%, 95% CI, 20.3-32.9)] than women without [399/935, (42.7%, 95% CI, 39.5-45.8)], aRR 0.58 (95% CI, 0.45-0.75), p < 0.001. For features located in the inner myometrium, the aRR for live birth was 0.29 (95% CI 0.11-0.74), p = 0.010 and for the outer myometrium 2.61 (95% CI 1.42-4.8), p = 0.002. An interrupted junctional zone was the single feature that impacted CLBR the most. The presence of direct or indirect MUSA features of adenomyosis correlates to reduced live birth rates in women undergoing their first IVF/ICSI treatment. Features located in the inner myometrium, particularly an interrupted junctional zone, reduced the chance of live birth the most, whereas location in the outer myometrium was associated with higher chances of live birth. Systematic ultrasound examinations should be considered for women scheduled for IVF/ICSI treatment, for adequate counseling on the chances of successful treatment.

Compliance with tetracycline eye ointment during annual mass drug administration for trachoma control in the Amhara region, Ethiopia.

A 6-week course of tetracycline eye ointment is an alternative to single -dose oral azithromycin in annual mass drug administration for trachoma control. Compliance with the recommended tetracycline eye ointment regimen has not been well characterised when administered as part of a trachoma control program. A routine mass drug administration for trachoma was carried out in 40 communities in the Amhara region of Ethiopia. Two tubes of tetracycline eye ointment, to be administered twice daily for 6 weeks, was offered to all children under 6 months of age, to pregnant women who declined to take azithromycin, and to all individuals with a macrolide allergy. Seven weeks following the mass drug administration, a treatment compliance survey was performed for all community members documented to have received tetracycline eye ointment during the mass drug administration. Of the 491 individuals documented as having received tetracycline eye ointment from the treatment records, 367 completed the survey, of which 214 recalled being offered tetracycline eye ointment. A total of 105 (49%) respondents reported taking ≥1 daily dose of tetracycline eye ointment on most days of the week for at least the first week. Only 20 (9%) respondents reported taking at least 1 tetracycline eye ointment dose per week for 6 weeks. The most common reasons for low compliance included 'saving it for a future infection' and 'stopped because I (or my child) seemed healthy'. The odds of low compliance were greater for those who reported not having adequate counselling (e.g., odds ratio [OR] 5.3, 95% CI 2.5-28.9 when low compliance was defined as not taking a tetracycline eye ointment dose for most days of at least the first week). Compliance with tetracycline eye ointment was low when administered by a trachoma program during a routine mass drug administration, especially for those reporting inadequate counselling. Further research with a larger sample size and varied settings is warranted to better understand and improve compliance.

Predictors of early removal of intragastric balloon due to intolerance: Insights from a multiethnic Asian cohort.

Intolerance frequently limits the use of intragastric balloons (IGBs) in the treatment of obesity. This includes refractory nausea, vomiting and abdominal discomfort. Our study aims to identify predictors of balloon intolerance and early removal, which will help to guide patient selection for this intervention and peri-procedure care. We conducted a retrospective cohort study of 54 consecutive patients who underwent IGB insertion from July 2017 to July 2022 in a single tertiary institution in Singapore. Forty-seven (87.0%) patients completed therapy, while 7 patients (13.0%) had early removal of the balloon due to intolerance. Characteristics of both groups were compared. Multivariate analysis revealed significant associations between early balloon removal and both depression (P=0.012) and anxiety (P=0.001) after adjusting for age, sex, ethnicity, height, nulliparity, balloon type and volume. Univariate analysis revealed that anxiety was the main risk factor (P=0.004, odds ratio 9.111, 95% confidence interval 1.624-51.124), while depression was no longer a significant predictor. Identifying predictors of balloon intolerance and early removal can enhance patient selection and improve peri-procedural care. In patients with a history of depression or anxiety, it is important to ensure adequate counselling and preparation prior to balloon insertion.

Laparoscopic sacrocolpopexy with concurrent hysterectomy or uterine preservation: A metanalysis and systematic review.

Literature is lacking strong evidence about comparisons of efficacy and quality of life-related outcomes between laparoscopic total and/or supracervical hysterectomy (LTH/LSCH) with laparoscopic sacrocolpopexy (LSC) and minimally invasive sacrohysteropexy (LSH). To summarize and compare available data on this topic providing a useful clinical tool in the treatment decision process. We performed a systematic research of PubMed (MEDLINE), Web of Science, and Gooogle Scholar. We included studies that compared at least one efficacy outcome (objective or subjective outcome) between LTH/LSCH with LSC and LSH. Data on surgery-related morbidities were also extracted where available. A random-effect meta-analysis was conducted reporting pooled mean differences and odds ratios (OR) between groups using Review Manager V.7.9.0. We included a total of nine observational studies. LTH/LSCH with LSH was associated with a significantly higher objective success (apical compartment OR 7.95; 95% confidence interval [CI] 2.23-28.33; I2 = 0%; P = 0.001; anterior compartment OR 2.23; 95% CI 1.26-4.30; I2 = 12%; P = 0.007) and subjective success (OR 3.19; 95% CI 1.42-7.17; I2 = 39%; P = 0.005). No differences were found regarding intraoperative and postoperative complications, sexual dysfunction, and stress urinary incontinence rate after surgery. Hysteropexy showed shorter operative time and shorter hospital length with a pool mean difference of 27.37 min (95% CI 18.04-32.71; I2 = 0%; P < 0.001) and 0.7 days (95% CI 0.24-1.17; I2 = 75%; P = 0.003), respectively. Concurrent hysterectomy was not associated with a higher rate of mesh-related complications (P = 0.53). No major differences were found regarding recurrence and reoperation rate (P = 0.10 and P = 0.93, respectively). LTH/LSCH with LSC has better objective and subjective outcomes in pelvic organ prolapse surgery than LSH alone, especially for apical and anterior compartments, and is not associated with higher postoperative sexual dysfunction and mesh-related complications. Adequate preoperative counseling is highly recommended in patients who desire uterine preservation. CRD42024537270.

Síndrome de Stickler: una causa de oftalmopatía pediátrica

Stickler's syndrome is a rare genetic disease of connective tissue, with dominant autosomal inheritance most of the time. It is characterized by the association of ophthalmopathy (myopia, retinal detachment and cataracts), orofacial abnormalities, hearing loss and arthropathy, with a wide variability in clinical expression. Diagnostic confirmation is obtained by genetic study. The prognosis varies depending on the severity of the manifestations. The absence of an etiological treatment reduces the therapeutic possibilities to a symptomatic treatment that is very often surgical. The importance of knowing its characteristics lies in an early clinical suspicion to try to avoid irreversible sequelae at an early age and provide the family with adequate genetic counseling.

Holoprosencephaly spectrum: an up-to-date overview of classification, genetics and neuroimaging.

Holoprosencephaly (HPE) is a complex forebrain congenital malformation with widely variable outcomes. It represents a disorder of ventral induction, which begins in the fifth gestational week. Its main feature is forebrain cleavage failure, which prevents the brain complete division into right and left hemispheres, the normal development of midline structures, and the deep brain structure. Based on the severity of prosencephalic cleavage failure, three classic forms (lobar, semilobar, and alobar) were described, and subsequently, interhemispheric variant (syntelencephaly) and septopreoptic variants were proposed. This review proposes a practical imaging approach to diagnosing HPE spectrum disorders, allowing an easier recognition and earlier diagnosis, which is essential for prenatal care and adequate parental counseling. In addition, we intend to simplify the understanding of HPE through a didactic discussion, schematic illustrations, and descriptions of each entity's current classification and critical neuroimaging features, as well as the main differential diagnosis of HPE.

The fragile urethra: what to do next?-a narrative review.

Although the artificial urinary sphincter (AUS) has demonstrated successful outcomes in treating male stress urinary incontinence (SUI) for the past five decades, this procedure also carries inherent risks, including recurrent SUI, device malfunction, local tissue compromise, and infection/erosion, all of which may require revision surgery with or without device replacement. Patients that are at the highest risk for such untoward events often possess unhealthy urethral tissue (termed a "fragile urethra") that is compromised and unable to provide optimal cuff coaptation and continence. Accordingly, there are several techniques to address recalcitrant SUI in the setting of a fragile urethra to afford an improved chance of return to continence. Here, we review characteristics of patients that are at higher risk for an untoward outcome following AUS implantation and further define strategies to promote optimal success with device implantation. The aim of this paper is to review the available literature and describe surgical options for male SUI in patients with known or anticipated urethral tissue compromise. A thorough literature review was completed by querying PubMed for relevant articles. Search terms included artificial urinary sphincter, failure, recalcitrant, urethral atrophy, fragile urethra, revision, radiation, cystectomy, incontinence, and/or urethroplasty published between 1975 and 2022. Options for management of the fragile urethra include cuff relocation, cuff downsizing, tandem cuff placement, transcorporal cuff placement, pressure regulating balloon exchange with increased or decreased pressure, bulbospongiosus preservation, sub-cuff ventral capsulotomy, urethral wrapping with graft, and in select cases, urinary diversion, or complete device removal with a return to SUI. Proper patient selection is paramount to optimize outcomes. Advantages and disadvantages of each strategy are reviewed. Numerous techniques are viable options for patients with recalcitrant SUI in the setting of a fragile urethra, but high-quality evidence with reproducible outcomes for many of these strategies remain limited. Proper patient selection as well as adequate counseling by experienced implant surgeons may help optimize outcomes. Further multi-institutional investigations with longer term outcomes are needed to improve patient selection and counseling with shared decision-making prior to any intervention.

The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction.

Shwachman-Diamond Syndrome (SDS) is a rare autosomal recessive genetic condition with 90% of cases associated with biallelic pathogenic variants in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene on chromosome 7q.11.21. SDS belongs to ribosomopathies since SBDS gene encodes a protein involved in ribosomal maturation. Its phenotypic postnatal hallmark features include growth delay, bone marrow failure, exocrine pancreatic insufficiency, and skeletal abnormalities. We report a first fetal case of Shwachman-Diamond syndrome and extend its phenotype before birth. The clinical features mimicked vascular growth restriction with FGR and shortened long bones, associated with abnormal Doppler indices. Non-restricted fetal autopsy after termination of pregnancy allowed deep phenotyping disclosing the features of fetal skeletal dysplasia. Post-fetopathological trio exome sequencing identified biallelic pathogenic variants in the SBDS gene. Genotype-phenotype correlations confirmed the diagnosis and enabled an adequate genetic counseling of the parents. Our case is another example of the positive impact of fetal autopsy coupled with post-fetopathological genomic studies, even in the cases that were hitherto classified as maternal or fetal vascular malperfusion.

Nutrition for Children and Adolescents Who Practice Sport: A Narrative Review.

At a developmental age, adequate physical activity is fundamental to overall health and well-being and preventing obesity. Moreover, establishing active behavior can help children and adolescents meet their growth and neurodevelopmental goals. Nutritional requirements vary according to intensity, frequency, and practiced physical activity or sport; therefore, pediatricians should give children and adolescents and their families adequate counseling, avoiding both nutrient deficiencies and excessive or inadequate supplement intake. The focus should be not only on sports performance but also on the child's well-being, growth, and neurodevelopment. Our narrative review aims to discuss the nutritional needs of children and adolescents who practice physical activity, non-competitive sports activity, and elite sports activity while also analyzing the role of food supplements and the risk of eating disorders within this category of subjects.

Should the scope of NIPT be limited by a 'threshold of seriousness'?

Non-invasive prenatal testing (NIPT) has the potential to screen for a wider range of genetic conditions than is currently possible at an early stage of pregnancy and with minimal risks. As such, there have been calls to apply a 'threshold of seriousness' to limit the scope of conditions being tested. This approach is based on concerns about society at large and the potential impact on specific groups within it. In this paper, we argue that limiting the scope of NIPT using the criterion of 'seriousness' is arbitrary, potentially stigmatises certain disabilities over others and fails to respect reproductive autonomy. We contend that concerns about expanded NIPT are more appropriately addressed by the provision of adequate information, counselling and consent procedures. We recommend a decision-making process that helps healthcare providers support prospective parents to make informed decisions about the nature and scope of NIPT screening based on their own values and social context. In addition to addressing concerns about expanded NIPT screening, this process would help clinicians to obtain legally valid consent and discharge their duty of care (including the duty to inform) in the prenatal context.

The True Impact of Voiding Dysfunctions after Transobturator Sub-Urethral Tape Procedures: A Systematic Review of Literature.

Introduction: Transobturator techniques are frequently used for the surgical treatment of female stress urinary incontinence (SUI), due to their high success rates and few intraoperative complications. However, controversial results have been reported in the literature regarding their incidence. The aim of this study is to analyze the real incidence and trend over time of such complications, especially voiding dysfunctions and overactive bladder (OAB) symptoms. Methods: A comprehensive search using PubMed/MEDLINE, Scopus, and Cochrane databases was performed. The search string used was the following: (female stress urinary incontinence) AND (complication) AND ((midurethral sling) OR (transobturator tape) OR (TVT-O) OR (voiding dysfunctions) OR (de novo OAB) OR (recurrent UTI) OR (vaginal erosion)). We included randomized controlled trials, prospective controlled studies, prospective and retrospective observational studies. All selected articles were screened based on titles and abstracts. Relevant data were extracted and tabulated. Results: A total of 39 studies were included in our analysis. Transobturator tape procedures show a high objective cure rate for SUI, from 76.9% to 100%. Postoperative voiding dysfunctions are shown to be quite common, ranging from 0-22% of cases. Despite that, this percentage decreases to 0-1% after 12 months. De novo OAB incidence ranges from 3% to 14% at 12 months, with variability over time due to multiple factors. Tape-related complications usually occur after 12 months, with a variable incidence up to 7%. Urinary tract infections (UTIs) are quite common in the immediate postoperative period but sometimes can be recurrent, requiring long-term prophylactic antibiotic treatment. Conclusions: Voiding dysfunctions are generally transient complications, while de novo OAB may persist over time. An adequate preoperative counseling, along with accurate written informed consent, could enhance patient tolerance of these issues and contribute to long-term patient satisfaction.

Oncofertility care for children, adolescents, and young adults at risk for treatment-related fertility loss.

As therapy for childhood malignancies becomes more sophisticated and survival has improved, long-term therapy-related sequelae have emerged. Loss of reproductive potential among childhood cancer survivors is one such concern that has become increasingly recognized among patients, families, and healthcare providers. The risk status for infertility based upon therapy received, state of current reproductive technology and outcomes, and an emphasis on adequate referral and counseling for fertility preservation options are reviewed. Contributing factors to infertility are discussed, and options for female and male preservation based upon age and pubertal status are summarized. This article highlights the current state of fertility opportunities for children and adolescents undergoing therapy for cancer. Providers caring for these young patients should be familiar with such options and should routinely initiate evaluations for eligibility of fertility preservation.

Muscle ultrastructure and histopathological findings in a Brazilian single-centre series of genetically classified telethoninopathy patients

BackgroundTelethoninopathy or TCAP-gene related Limb Girdle Muscular Dystrophy is a rare genetic disease that was first described in Brazil. There are around 100 families reported worldwide. Due to its rarity, detailed information on muscle biopsy light and electron microscopic features are lacking.Cases presentationRetrospective study of consecutive muscle biopsies performed in patients from a Neuromuscular Outpatient Clinic between 2011 and 2023. Inclusion criteria: telethoninopathy diagnosed by both immunohistochemistry and molecular studies. Seven patients (0.7% or 7/953) were found: five male and two female, admitted from 6 to 54 years old. Detailed light and electron microscopy findings are illustrated. Muscle imaging is presented. A dystrophic pattern on muscle biopsy was found in 57% (4/7) of the patients. Other 43% (3/7) presented myopathic features such as variation in fibre calibre, nuclear internalization, rimmed vacuoles, and oxidative irregularities. Morphometry disclosed type 1 lobulated fibres that were 34%, 52%, and 57% smaller than type 2 fibres, respectively, in three patients, without type 1 fibre predominance. Electron microscopy demonstrated nuclear pseudoinclusions, pyknosis, multifocal loss of the sarcolemma, and 17 nm intrasarcoplasmic filamentous inclusions. All patients presented: (1) complete absence of the immunohistochemical expression of telethonin, and (2) the homozygous c.157C > T, p.(Gln53*) pathogenic variant in exon 2 of the TCAP gene.ConclusionAnti-telethonin immunohistochemistry may be helpful in unsolved cases with nonspecific myopathic abnormalities, specially with small type 1 lobulated fibres. Appropriate diagnosis is important for adequate genetic counselling.

A Systematic Review of Occult Contralateral Neck Metastasis in Tonsillar Squamous Cell Carcinoma.

To determine the prevalence of occult contralateral nodal metastasis in tonsillar squamous cell carcinoma (TSCC) in patients who have undergone bilateral neck dissection. A systematic review of English articles identified from PubMed, Embase, and Web of Science databases. Search terms included "oropharynx," "carcinoma," "lymph node," and "neck dissection." Two reviewers independently screened abstracts, reviewed full texts, and extracted data from all studies that presented the prevalence of contralateral occult nodal metastasis in TSCC. The overall prevalence of occult contralateral nodal metastasis was 10%. The prevalence was 8% for cT1/T2 tumors, 19% for cT3/T4, 1% for N0 in the ipsilateral neck, and 12% for N+. Occult contralateral lymph nodes were most frequently found in neck level II (81%) and level III (19%). No metastatic nodes were found in level I. Elective neck dissection of the contralateral neck in TSCC is controversial due the historic morbidity caused by the surgery. A widely accepted recommendation suggests performing an elective neck dissection when the prevalence of occult metastasis is between 15% and 20%. The results of this study suggest that elective contralateral neck dissection will identify occult positivity in 19% of patients with T3/T4 tonsil cancer. In T1/T2 or N0 tumors, the diagnostic yield would be considerably lower at 8% and 1%, respectively. Contralateral nodal sampling could be considered based on patient preference after adequate counseling on the risks/benefits of occult nodal detection. More research is needed on other nodal features to formulate treatment guidelines. Laryngoscope, 2024.

Prevalence of the FMR1 Gene Premutation in Young Women with a Diminished Ovarian Reserve Included in an IVF Program: Implications for Clinical Practice.

The relationship between premature ovarian insufficiency (FXPOI) and premutation in the FMR1 gene is well established. In recent years, though, a potential relationship between the latter and a low ovarian reserve has been suggested. To explore it, we conducted a retrospective study in an IVF program at a university tertiary referral center in Barcelona (Spain). Data were obtained retrospectively from a total of 385 women referred for FMR1 gene testing at our institution from January 2018 to December 2021. We compared the prevalence of FMR1 gene premutation between 93 of them, younger than 35 years, with a diminished ovarian reserve (DOR), characterized by levels of anti-Mullerian hormone < 1.1 ng/mL and antral follicle count < 5; and 132 egg donors screened by protocol that served as the controls. We found a higher prevalence of FMR1 premutation in the DOR group (seven patients (7.69%)) than in the control group (one patient (1.32%)), Fisher-exact test p-value = 0.012). We concluded that compared with the general population represented by young egg donors, the prevalence of FMR1 gene premutation is higher in young patients with a diminished ovarian reserve. Although these findings warrant further prospective validation in a larger cohort of patients within DOR, they suggest that, in clinical practice, FMR1 premutation should be determined in infertile young patients with DOR in order to give them adequate genetic counselling.

Assessment of fertility and sexual dysfunction in women with systemic sclerosis: a narrative review of the literature.

The aim of this work is to review the existing literature regarding sexual and reproductive function of women affected by systemic sclerosis and to establish the impact of the disease on the gynaecological-obstetrical field. A systematic search has been conducted by means of PubMed, Cochrane, Google Scholar, until January 2024 by the keywords ''systemic sclerosis'', ''fertility'', "sexual dysfunction" and "pregnancy". Sexual dysfunction has been described in most of the studies. This could be related to dryness and dyspareunia, but also to the psychosocial impact of SSc on body and facial appearance, which impacts on social and sexual relationships. There is conflicting evidence regarding the influence of SSc and fertility. Before the 1980s pregnancies in these patients were rare. This could be linked to the satisfied reproductive desire before the onset of SSc, or to the fact that pregnancy was labelled as high-risk, leading to counsel against it in most patients. Recently, the evidence supporting infertility is conflicting. There is no certain theory on how the disease may interfere with reproductive function, but a possible linkage can be detected in a pro-inflammatory milieu which can impair the ovarian reserve. Women affected by SSc should be followed-up by a multidisciplinary team to prevent sexual dysfunction. Although there is no consensus on the impact of SSc on fertility, these patients should be provided with adequate pre-conceptional counselling and a strict follow-up in high-risk pregnancy units.

Patient Perceptions and Knowledge Surrounding Pregnancy After Heart Transplantation: A Multicenter Study.

More women of childbearing age are surviving after heart transplantation (HT), many of whom have a desire to become pregnant. Limited data exist evaluating patients' perspectives, receipt of counseling, and knowledge surrounding contraception, pregnancy, breastfeeding, and medication safety after HT. We conducted a voluntary, confidential, web-based cross-sectional survey of women who were childbearing age (defined as 18-45 years) at the time of HT. Transplants occurred between January 2005 and January 2020. Surveys were conducted across 6 high-volume HT centers in the United States. There were 64 responses from women who were of childbearing age at the time of HT. Twenty-five women (39.1%) were pregnant before HT, and 6 (9.4%) women reported at least 1 pregnancy post-transplant. Fifty-three percent (n=34) reported they did not receive enough information on post-HT pregnancy before listing for HT, and 26% (n=16) did not discuss their ability to become pregnant with their care team before proceeding with HT. Following HT, 44% (n=28) still felt that they had not received enough information regarding pregnancy. The majority of women (n=49, 77%) had discussed contraception to prevent unplanned pregnancy with their transplant team. Twenty percent (n=13) reported that pregnancy was never safe after transplantation based on the information they had received from their transplant providers. Many women feel they are not receiving adequate counseling with regard to posttransplant reproductive health. This survey highlights an opportunity to improve both provider education and patient communication to better support women with HT desiring posttransplant pregnancy.