bluuebunny/crossref_metadata_2025 huggingface dataset:
Association of a gene-expression subtype to outcome and treatment response in patients with recurrent/metastatic head and neck squamous cell carcinoma treated with nivolumab
Authors: Serafini Mara Serena , Cavalieri Stefano , Licitra Lisa , Pistore Federico , Lenoci Deborah , Canevari Silvana , Airoldi Mario , Cossu Rocca Maria , Strojan Primoz , Kuhar Cvetka Grasic , Merlano Marco , Perrone Federica , Vingiani Andrea , Denaro Nerina , Perri Francesco , Argiris Athanassios , Gurizzan Cristina , Ghi Maria Grazia , Cassano Alessandra , Allegrini Giacomo , Bossi Paolo , De Cecco Loris
Published: January 2024

Background

Immune checkpoint inhibitors have been approved and currently used in the clinical management of recurrent and metastatic head and neck squamous cell carcinoma (R/M HNSCC) patients. The reported benefit in clinical trials is variable and heterogeneous. Our study aims at exploring and comparing the predictive role of gene-expression signatures with classical biomarkers for immunotherapy-treated R/M HNSCC patients in a multicentric phase IIIb trial.

Methods

Clinical data were prospectively collected in Nivactor tiral (single-arm, open-label, multicenter, phase IIIb clinical trial in platinum-refractory HNSCC treated with nivolumab). Findings were validated in an external independent cohort of immune-treated HNSCC patients, divided in long-term and short-term survivors (overall survival >18 and <6 months since the start of immunotherapy, respectively). Pretreatment tumor tissue specimen from immunotherapy-treated R/M HNSCC patients was used for PD-L1 (Tumor Proportion Score; Combined Positive Score (CPS)) and Tumor Mutational Burden (Oncopanel TSO500) evaluation and gene expression profiling; classical biomarkers and immune signatures (retrieved from literature) were challenged in the NIVACTOR dataset.

Results

Cluster-6 (Cl6) stratification of NIVACTOR cases in high score (n=16, 20%) and low score (n=64, 80%) demonstrated a statistically significant and clinically meaningful improvement in overall survival in the high-score cases (p=0.00028; HR=4.34, 95% CI 1.84 to 10.22) and discriminative ability reached area under the curve (AUC)=0.785 (95% CI 0.603 to 0.967). The association of high-score Cl6 with better outcome was also confirmed in: (1) NIVACTOR progression-free survival (p=4.93E-05; HR=3.71, 95% CI 1.92 to 7.18) and objective-response-rate (AUC=0.785; 95% CI 0.603 to 0.967); (2) long survivors versus short survivors (p=0.00544). In multivariate Cox regression analysis, Cl6 was independent from Eastern Cooperative Oncology Group performance status, PDL1-CPS, and primary tumor site.

Conclusions

These data highlight the presence of underlying biological differences able to predict survival and response following treatment with immunotherapy in platinum-refractory R/M HNSCC that could have translational implications improving treatment selection.

Trial registration number

EudraCT Number: 2017-000562-30.
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
Authors: Morren Marie-Anne , Fodstad Heidi , Brems Hilde , Bedoni Nicola , Guenova Emmanuella , Jacot-Guillarmod Martine , Busiah Kanetee , Giuliano Fabienne , Gilliet Michel , Atallah Isis
Published: January 2024

Background

Cutaneous epidermal nevi are genotypically diverse mosaic disorders. Pathogenic hotspot variants inHRAS,KRAS, and less frequently, NRASandBRAFmay cause isolated keratinocytic epidermal nevi and sebaceous nevi or several different syndromes when associated with extracutaneous anomalies. Therefore, some authors suggest the concept of mosaic RASopathies to group these different disorders.

Methods

In this paper, we describe three new cases of syndromic epidermal nevi caused by mosaicHRASvariants: one associating an extensive keratinocytic epidermal nevus with hypomastia, another with extensive mucosal involvement and a third combining a small sebaceous nevus with seizures and intellectual deficiency. Moreover, we performed extensive literature of all cases of syndromic epidermal nevi and related disorders with confirmed pathogenic postzygotic variants inHRAS, KRAS, NRASorBRAF.

Results

Most patients presented with bone, ophthalmological or neurological anomalies. Rhabdomyosarcoma, urothelial cell carcinoma and pubertas praecox are also repeatedly reported.KRASpathogenic variants are involved in 50% of the cases, especially in sebaceous nevi, oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. They are frequently associated with eye and brain anomalies. Pathogenic variants inHRASare rather present in syndromic keratinocytic epidermal nevi and phacomatosis pigmentokeratotica.

Conclusion

This review delineates genotype/phenotype correlations of syndromic epidermal nevi with somaticRASandBRAFpathogenic variants and may help improve their follow-up.
Thromboembolic and bleeding events after valvular intervention in patients with atrial fibrillation
Authors: Skogseid Ebba-Louise , Batra Gorav , Westerbergh Johan , Held Claes , Christersson Christina
Published: January 2024

Aim

To assess outcomes after cardiac surgery with biological valve replacement, valve repair or transcatheter aortic valve implantation (TAVI) in patients with atrial fibrillation (AF) in accordance with oral anticoagulant (OAC) treatment.

Methods

All patients in Sweden undergoing valvular intervention with AF were included. Associations between OAC exposure and cardiovascular (CV) events (composite of CV death, ischaemic stroke or systemic embolism) and major bleeding were investigated using Cox regression analysis. The analysis was separated in time periods of 0–3 and 3–12 months after discharge.

Results

4730 patients were included in the first time period, 54.0% had received a surgical biological valve prosthesis, 23.8% valve repair and 22.2% TAVI. Exposure to warfarin (comparator) was 62.3%, to non-vitamin K antagonist oral anticoagulants (NOACs) 10.0% and to no OAC 27.7%. NOAC exposure was associated with similar risk of the composite CV outcome and major bleeding from 0 to 3 months. No OAC was associated with increased risk of the composite CV outcome (HR 1.71; 95% CI 1.26 to 2.32) and similar risk of major bleeding. Further analysis of the bioprosthetic valve replacement subgroup indicated increased risk of CV death when exposed to NOAC (HR 2.58; 95% CI 1.15 to 5.78) and no OAC (HR 2.82; 95% CI 1.65 to 4.82) compared with warfarin from 0 to 3 months. No differences were seen between 3 and 12 months.

Conclusion

In this registry-based cohort study of patients with AF with severe valvular heart disease undergoing various valvular interventions, NOAC appears to be comparable with warfarin regarding efficacy and safety. Patients not receiving OAC had higher risk of CV events. NOAC was associated with increased CV death compared with warfarin in the surgical bioprosthetic valve replacement subgroup, illustrating the importance of being cautious when extrapolating data from one patient group to another. Further studies comparing NOAC and warfarin in the early postoperative phase are warranted, especially following surgical bioprosthetic valve replacement.
Iliopsoas plane block does not improve pain after primary total hip arthroplasty in the presence of multimodal analgesia: a single institution randomized controlled trial
Authors: Kim Ji Yeong , Lee Jong Seok , Kim Ji Young , Yoon Eun Jang , Lee Wootaek , Lee Seungyeon , Kim Do-Hyeong
Published: January 2024

Background

The clinical analgesic efficacy of iliopsoas plane block remains a subject of discussion. This study aimed to assess the analgesic efficacy of iliopsoas plane block under general anesthesia using multimodal analgesia.

Methods

Fifty-six adult patients who underwent elective primary hip arthroplasty were enrolled. Patients were randomized to receive either a single-shot iliopsoas plane block (10 mL 0.75% ropivacaine with 1:200 000 epinephrine) or a sham block (10 mL normal saline). All patients received general anesthesia, multimodal analgesia (preoperative buprenorphine patch, 5 µg/h), intraoperative intravenous dexamethasone (8 mg) and nefopam (20 mg), and round-the-clock acetaminophen and celecoxib. The primary outcome was the numeric rating scale pain score at rest 6 hour after surgery.

Results

Iliopsoas plane block did not have a notable advantage over the sham block in terms of pain relief at rest, as assessed by the numeric rating scale score, 6 hour after total hip arthroplasty (iliopsoas plane block: median, 4.0; IQR, 2.0–5.8; sham: median, 5.5; IQR, 2.3–6.8; median difference, −1.0; 95% CI −2.0 to 0.0; p≥0.999). Linear mixed model analysis showed no differences in pain scores, opioid consumption, quadriceps strength, or quality of recovery between the groups.

Conclusions

Iliopsoas plane block did not improve postoperative analgesia following total hip arthroplasty under general anesthesia with a multimodal analgesic regimen. The blockade of sensory femoral branches supplying the anterior hip capsule using iliopsoas plane block may not yield additional benefits concerning patient outcomes in the aforementioned clinical context.

Trial registration number

NCT05212038,https://clinicaltrials.gov/ct2/show/NCT05212038
Additive value of superficial parasternal intercostal plane block and serratus anterior plane block in lung transplantation surgery: a retrospective exploratory study
Authors: Azem Karam , Fein Shai , Zribi Benjamin , Iluz-Freundlich Daniel , Neuman Ido , Livne Michal Y , Kaplan Omer , Aranbitski Roussana , Heesen Philip , Statlender Liran , Gorfil Dan , Barac Yaron , Peysakhovich Yuri , Mangoubi Eitan
Published: January 2024

Background

Adequate pain control following lung transplantation (LTx) surgery is paramount. Thoracic epidural analgesia (TEA) is the gold standard; however, the potential use of extracorporeal membrane oxygenation (ECMO) and consequent anticoagulation therapy raises safety concerns, prompting clinicians to seek safer alternatives. The utility of thoracic wall blocks in general thoracic surgery is well established; however, their role in the context of LTx has been poorly investigated.

Methods

In this retrospective exploratory study, we assessed the effect of adding a superficial parasternal intercostal plane (sPIP) block and serratus anterior plane (SAP) block to standard anesthetic and analgesic care on tracheal extubation rates, pain scores and opioid consumption until 72 hours postoperatively in LTx.

Results

Sixty patients were included in the analysis; 35 received the standard anesthetic and analgesic care (control group), and 25 received sPIP and SAP blocks in addition to the standard anesthetic and analgesic care (intervention group). We observed higher tracheal extubation rates in the intervention group at 8 hours postoperatively (16.0% vs 0.0%, p=0.03). This was also shown after adjusting for known prognostic factors (OR 1.18; 95% CI 1.04 to 1.33, p=0.02). Furthermore, we noted a lower opioid consumption measured by morphine milligram equivalents at 24 hours in the intervention group (median 405 (IQR 300–490) vs 266 (IQR 168–366), p=0.02). This was also found after adjusting for known prognostic factors (β −118; 95% CI −221 to 14, p=0.03).

Conclusion

sPIP and SAP blocks are safe regional analgesic techniques in LTx involving ECMO and clamshell incision. They are associated with faster tracheal extubation and lower opioid consumption. These techniques should be considered when TEA is not appropriate. Further high-quality studies are warranted to confirm these findings.
Differences in the association between epidural analgesia and length of stay by surgery type: an observational study
Authors: Patel Anuj B , Kerins Gerard J , Sites Brian D , Duprat Chloe Nadine M , Davis Matthew
Published: January 2024

Introduction

Despite a decline in the use of thoracic epidural analgesia related in part to concerns for delayed discharge, it is unknown whether changes in length of stay (LOS) associated with epidural analgesia vary by surgery type. Therefore, we determined the degree to which the association between epidural analgesia (vs no epidural) and LOS differed by surgery type.

Methods

We conducted an observational study using data from 1747 patients who had either non-emergent open abdominal, thoracic, or vascular surgery at a single tertiary academic hospital. The primary outcome was hospital LOS and the incidence of a prolonged hospital LOS defined as 21 days or longer. Secondary endpoints included escalation of care, 30-day all-cause readmission, and reason for epidural not being placed. The association between epidural status and dichotomous endpoints was examined using logistic regression.

Results

Among the 1747 patients, 85.7% (1499) received epidural analgesia. 78% (1364) underwent abdominal, 11.5% (200) thoracic, and 10.5% (183) vascular surgeries. After adjustment for differences, receiving epidural analgesia (vs no epidural) was associated with a 45% reduction in the likelihood of a prolonged LOS (p<0.05). This relationship varied by surgery type: abdominal (OR 0.42, 95% CI 0.23 to 0.79, p<0.001), vascular (OR 1.66, 95% CI 0.17 to 16.1, p=0.14), and thoracic (OR 1.07, 95% CI 0.20 to 5.70, p=0.93). Among abdominal surgical patients, epidural analgesia was associated with a median decrease in LOS by 1.4 days and a 37% reduction in the likelihood of 30-day readmission (adjusted OR 0.63, 0.41 to 0.97, p<0.05). Among thoracic surgical patients, epidural analgesia was associated with a median increase in LOS by 3.2 days.

Conclusions

The relationship between epidural analgesia and LOS appears to be different among different surgical populations.
Malnutrition care in hospitalized pediatric inpatients: comparison of perceptions and experiences across two pediatric academic health sciences centres
Authors: Hulst Jessie M. , de Lange Anna , DaSilva Kristen , Owens Jillian , Bannister Louise , Beaulieu Jordan , Chowdhury Fariha , Fleming-Carroll Bonnie , Haliburton Beth , Kalnins Daina , Mahant Sanjay , McEwan Sarah , Morra Adelina , Talone Lisa , Pai Nikhil
Published: January 2024

Malnutrition affects up to one in three Canadian children admitted to hospital. Awareness among pediatric healthcare providers (HCPs) of the prevalence and impacts of hospitalized malnutrition is critical for optimal management. The purpose of this study was to determine perceptions of malnutrition among pediatric HCP across two major academic health sciences centres, and to determine how the use of a standardized pediatric nutritional screening tool at one institution affects responses. Between 2020 and 2022, 192 HCPs representing nursing, dietetics, medicine, and other allied health were surveyed across McMaster Children's Hospital and The Hospital for Sick Children. 38% of respondents from both centres perceived rates of malnutrition between approximately one in three patients. Perceptions of the need for nutritional screening, assessment, and management were similar between centres. All respondents identified the need for better communication of hospitalized malnutrition status to community providers at discharge, and resource limitations affecting nutritional management of pediatric inpatients. This study represents the largest and most diverse survey of inpatient pediatric HCPs to date. We demonstrate high rates of baseline knowledge of hospital malnutrition, ongoing resource challenges, and the need for a systematic approach to pediatric nutritional management.
International Guidelines and Significant Advances in Diagnosis
Authors: Teede Helena
Published: January 2024

Objective: To develop and translate rigorous, comprehensive evidence-based guidelines for diagnosis, assessment, and treatment, to improve the lives of those with polycystic ovary syndrome (PCOS) worldwide. Here we will focus on diagnosis.

Participants: Extensive health professional and consumer or patient engagement informed the guideline priority areas. International society-nominated panels included consumers, and experts in paediatrics, endocrinology, gynaecology, primary care, reproductive endocrinology, psychology, dietetics, exercise physiology, sleep, bariatric/metabolic surgery, public health, other co-opted experts, project management, evidence synthesis and translation.

Evidence: Best practice, evidence-based guideline development involved extensive evidence synthesis and the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) framework covered evidence quality, feasibility, acceptability, cost, implementation and ultimately recommendation strength.

Process: Governance included an international advisory board, project board and five guideline development groups with 52 members, consumer, and translation committees. The Centre for Research Excellence in Women’s Health in Reproductive Life, funded by the Australian National Health and Medical Research Council (NHMRC), and led by Monash University, partnered with the American Society for Reproductive Medicine, the Endocrine Society, the European Society of Endocrinology and the European Society of Human Reproduction and Embryology. Thirty-six organisations collaborated with international meetings over nine months. Fifty-five prioritised clinical questions involved 52 systematic and three narrative reviews, generating evidence-based and consensus recommendations with accompanying practice points. Committee members nominated by collaborating organisations provided international peer review, and evidence expert-reviewed methods and outputs were submitted to NHMRC for independent review.

Recommendations: PCOS should be diagnosed using the revised consensus Rotterdam criteria, which are now updated to evidence-based criteria in the International Guideline. In adults this requires the presence of two of i) clinical/biochemical hyperandrogenism ii) ovulatory dysfunction and iii) polycystic ovaries on ultrasound or elevated anti-mullerian hormone (AMH) levels, after other causes of these features are excluded. Where irregular menstrual cycles and hyperandrogenism are present, ultrasound or AMH are not required for diagnosis. In adolescents, both hyperandrogenism and ovulatory dysfunction are required, with ultrasound and AMH not recommended, due to poor specificity.

Conclusion: Overall, evidence in PCOS is low to moderate quality. Based on high prevalence and significant health impact, greater priority, funding, and research is recommended. Guideline translation will be extensive including multilingual education outputs and evidence-based resources for consumers (the ASKPCOS app), healthcare professionals and policy makers.
The Prevalence of PCOS in South Asia
Authors: Patil Madhuri
Published: January 2024

Polycystic ovary syndrome (PCOS) is a common endocrine disorder in reproductive-aged women, with ethnic diversity in its manifestation. South Asian patients have a much higher prevalence of PCOS than the controls.

A greater PCOS burden among South Asian than White women receiving infertility care has been reported.

South Asian patients showed an increased degree of hirsutism, early onset of symptoms, severe insulin resistance, metabolic risks (impaired glucose tolerance (IGT), insulin resistance (IR), diabetes mellitus (DM), hyperlipidemia) and endometrial pathology as compared with Caucasians. South Asians with PCOS also have greater odds of being centrally obese, with one third having the metabolic syndrome that bears no relationship to the androgenic phenotype. South Asians with PCOS manifest early and seek health-care pre-maritally, with irregular menses and hirsutism predominating. They have greater central obesity in proportion to a ‘lower’ BMI, which is linked to their metabolic risk. MetS affects one-third, with age [Formula: see text]35 years, Acantosis Nigricans and BMI [Formula: see text]25 kg/m2 (Asian cut off) having significant association. In a study when Chinese, Filipina and South Asians were compared, the prevalence of PCOS and obesity was significantly higher in South Asians whereas that of diabetes was higher among Filipinas.

Genetic components play important roles in the pathogenesis of PCOS, and genome-wide association studies of PCOS have also suggested that similar genetic risk factors exist between Asian and Caucasian patients. Among women with PCOS, Asians have been reported to have lower insulin (vs. Black and Hispanic women) and higher glucose (vs. non-Hispanic White women) levels in response to an oral glucose load.

Greater awareness in the clinicians about the differences in PCOS and diabetes among south Asian subgroups is important for targeting screening and prevention efforts. Due to the baseline ethnic predisposition to metabolic syndrome, comprehensive metabolic screening, and counselling regarding future risks of chronic disease should be provided.
Pregnancy and Early Life Complications of PCOS
Authors: Thien Tan Chau
Published: January 2024

This presentation delves into the wide-ranging effects of Polycystic Ovary Syndrome (PCOS) on women’s lives, specifically exploring its manifestations during adolescence and pregnancy.

Starting with PCOS in early life, we delve into the hormonal shifts of puberty and their connection to PCOS development. Challenges of diagnosing PCOS in adolescents are discussed, along with the distinct cardiometabolic and psychological issues they face. The section concludes with pragmatic insights into the 2023 PCOS Guideline’s recommendations for managing PCOS during these pivotal years.

Moving to PCOS during pregnancy, attention shifts to the complex hormonal and physiological adjustments the female body undergoes to support foetal growth. PCOS-related mechanisms that might contribute to pregnancy complications are examined. In addition, we present evidence from 2023 PCOS Guideline meta-analyses revealing the various pregnancy complications in this high-risk population. Concluding, we navigate antenatal care terrain aligned with the 2023 Guideline and present evidence on metformin’s role in PCOS pregnancies.

This presentation provides a comprehensive view of PCOS from adolescence to pregnancy. By integrating up-to-date guidelines and evidence, it aims to equip healthcare professionals with practical insights for navigating PCOS’s complexities, ultimately improving patient care.
Cardiometabolic Complications of PCOS
Authors: Joham Anju
Published: January 2024

Polycystic ovary syndrome (PCOS) has reproductive, metabolic, dermatological, and psychological clinical features. While the reproductive features have been the best recognised; however, in more in recent times, the metabolic characteristics and extended cardiometabolic sequelae of PCOS have gained increasing acknowledgment.

Women with PCOS have higher rates of obesity, longitudinal weight gain and central adiposity compared to women without PCOS ( 1 , 2 ). Insulin resistance is a key pathophysiological feature in PCOS, is present independent of obesity and is exacerbated by obesity ( 3 ) and contributes to metabolic complications. Women with PCOS have a 1.9-fold increased risk of metabolic syndrome and clustering of cardiovascular risk factors ( 4 ). The incidence of type 2 diabetes is higher and onset earlier in women with PCOS, independent of body mass index ( 5 ). Dyslipidaemia is increased in women with PCOS, with the relationship largely mediated by obesity ( 6 ). Despite clustering of cardiovascular risk factors, the question of whether women with PCOS face an elevated risk of cardiovascular disease have remained uncertain. Nevertheless, more recent, and substantial evidence indicates that women with PCOS are indeed at an increased risk of cardiovascular disease. This is supported by higher odds ratios and/or incidence rate ratios for composite cardiovascular disease, ischaemic heart disease, stroke, and cardiovascular mortality. It is important to acknowledge, however, that the overall risk of cardiovascular disease among pre-menopausal women remains low ( 7 ).
Genetics and Phenotypes in PCOS
Authors: Legro Richard
Published: January 2024

PCOS was initially viewed as a single gene disorder with a strong familial component. It is now understood to be a complex genetic disorder, though clearly with familial phenotypes. Multiple GWASs have identified similar loci and meta-analyses have identified further loci. Rare variants have also been identified. These loci have been only superficially studied to date and have not led to breakthroughs in understanding or treating PCOS. Personalized medicine for patients with PCOS is still in its infancy.
Optimising Preconception Care
Authors: Moran Lisa
Published: January 2024

Women with PCOS are at an increased risk of infertility and a range of pregnancy complications. It is therefore important to understand how to optimise preconception care to reduce these risks. A reproductive life plan and age-appropriate education on optimising reproductive health is recommended in adolescents and women with PCOS. This should occur across the domains of appropriate nutritional intake (dietary and supplement sources), optimising physical activity, considering the effects of excess weight on fertility and being aware of the effects of substances on fertility. Dietary intake should be consistent with population guidelines for healthy eating with appropriate intake of core food groups and limited intake of discretionary foods high in added sugar, sodium, trans and saturated fats. Recommendations exist for preconception micronutrient supplementation including folic acid and iodine (in the Australian context) with others (e.g., vitamin D, iron, calcium and B12) as per deficiencies or other country specific guidelines. Recommendations for physical activity should also be consistent with general population guidelines comprising moderate intensity physical activity of >150 minutes/week or vigorous intensity physical activity of 75 minutes/week or a combination of both, engaging in muscle strengthening activities [Formula: see text]2 days/week and minimising the amount of time spent in prolonged sitting. The association of excess weight on reduced fertility are recognised from epidemiological literature and current guidelines highlight strategies of modest weight loss at higher BMIs. This is an important and emerging field of literature where future research can elucidate efficacy in randomised controlled trials across different interventions and populations. When working with all women preconception, and in particular women with PCOS, it is important to consider weight stigma, disordered eating and eating disorders when discussing the relationship of infertility and weight and potential modification of weight. Substance use can be considered across limiting high intake of caffeine and avoiding alcohol and illicit substance intake and smoking.
Impact of Prestimulation Treatment
Authors: Kaul-Mahajan Nalini
Published: January 2024

Polycystic ovarian syndrome (PCOS) is one of the commonest endocrine disorders encountered in women of reproductive age. It is characterised by an altered Androgen metabolism which leads to irregular menses, anovulation and hyperandrogenism (HA). It is associated with hyperinsulinaemia and obesity which aggravate the HA status. Ovulation induction and controlled ovarian stimulation pose a unique challenge in these patients. The endocrine disturbance leads to arrest of follicular growth and patients may either not respond to OI drugs are may hyper-respond leading to a risk of OHSS. The best strategy to improve outcome of IVF in PCOS patients is still under consideration.

This lecture will address pre-treatment (IVF) drugs and strategies that ameliorate HA, decrease the risk of OHSS and improve cycle outcome. Selection of the safest and most effective OS protocols will be discussed. Use of segmental IVF in PCOS patients has almost eliminated OHSS- it involves using an antagonist protocol with a GnRH agonist trigger and a freeze all strategy. The pros and cons of this strategy will be discussed. We will also look at the current status of Metformin Inositols, Vit D in PCOS patients and their role in improving IVF outcome. Use of pre-treatment hormones/OCP’s and their effect on IVF outcome will be deliberated. Lifestyle change and weight reduction are important to improve the HI & HA status and have become a fundamental requirement in these young women. The challenge patients face in achieving weight reduction goals due to the inherent metabolic disturbances needs to be recognised.

At the end of the lecture the delegate would be able to have a better understanding of the current status of various pre-treatment strategies used in PCOS patients undergoing IVF.
Optimising Ovulation Induction in PCOS
Authors: Patil Madhuri
Published: January 2024

Biochemical, Metabolic and Endocrine changes in PCOS result in reproductive impairment in women with PCOS. Controlled ovarian stimulation (COS) may be associated with

• Unpredictable response

• Response may be slow

• Hyper-response - OHSS

• Risk of Cyst Formation

• Poor oocyte quality

• Miscarriage

• Cycle cancellation

So, the ovulation induction protocol should be efficacious and safe resulting in a singleton live birth, minimising complications, and risks like ovarian hyperstimulation syndrome (OHSS), multiple pregnancies and cancellation of cycles. For this special consideration should be given to prediction of response, pre-treatment, choosing the right ovulation induction (OI) protocol with right dose and analogue, using GnRH agonist trigger instead of hCG, preventing late follicular phase rise in progesterone, or following the segmentation protocol.

We can maximize the success rates by stimulation individualization based on age, AMH, AFC and amended further for BMI. AMH is considered as more sensitive marker to define follicle excess than AFC as it appraises more follicle classes - preantral and early antral. One should probably use mild stimulation protocols where gonadotropins are given in combination with oral ovulogens or the low dose step up protocol. It is essential that we use GnRH antagonist protocol and administer GnRH agonist if there is risk of OHSS. If segmentation protocol is used one could also use the progesterone primed ovarian stimulation instead of GnRG antagonist.

One could reduce the incidence of OHSS by laparoscopic ovarian drilling and use of Metformin and aspirin before assisted reproduction. If the patient is at risk of developing OHSS during stimulation then one could administer cabergoline, intravenous infusion of calcium gluconate or albumin and methylprednisolone. But freezing all embryos and transferring them in a subsequent cycle increase the efficacy and reduce complications of ART in PCOS women. Elective single embryo transfer(eSET) should be the norm to reduce the multiple pregnancy rate.

Conclusion

Thus, in all ART cycles individualised COS with freeze all and eSET could help in increasing the success of ART and reducing stress and anxiety and complications in these women.
Social and Psychological Aspects - Communicating with Our Patients
Authors: Shah Duru
Published: January 2024

PCOS is a common endocrine disorder with its worldwide prevalence being almost 20%, affecting women throughout every stage of their lives and is well known for its multifactorial nature. Due to its variation in phenotype, a delay in the diagnosis and hence treatment, adds to the woes of PCOS girls and women, who are already harrowed by its distressing symptoms. Hence depression, anxiety, mood, and mental health disorders are strongly prevalent in women with PCOS. Body shaming and negative body image have a profound impact on the quality of life of women with cosmetic issues. On the other hand, women with infertility have many social issues especially in countries wherein fertility is considered as a bane for women leading to depression and anxiety. Hence, decoding the relationship between mental health and PCOS can help address and improve psycho-social outcomes in such women. Counselling and communication along with evidence based behavioural interventions is the need of the hour to help PCOS women cope with their issues. Along with lifestyle counselling programs, flexible psychological counselling with an individualized approach can promote positive mental health in women with PCOS, whilst management of their physical health is commenced.

In India, the PCOS Society of India, has created an organized Awareness Program called “Vijeyata-the winner” for women through Physical Sessions, Webinars, social media, YouTube Videos, supported by a grant, which educates women on the subject. The sessions also assess their knowledge through a poll conducted via pre and post sessions and helps them suspect whether they may be at risk of PCOS and encourages them to see their physicians for their problems.

The details of this program will be discussed during this Session.
Contingency Plan and Emergency Protocols - What You Need to Know
Authors: Pope Adrianne
Published: January 2024

Planning for a disaster or untoward event is usually the last thing on people’s minds in an ART unit but unfortunately it is a reality. Identifying possible risks and implementing plans to address or mitigate these is now considered best practice. This presentation will outline potential risks and strategies to assist in managing unexpected events.

The focus will be on creating a risk register, developing plans, and creating scenarios to aid in training staff in dealing with adverse events.

The goal will be to create an awareness of untoward events or natural disasters that have had an impact on ART clinics around the world and how people have adapted practices to ensure patient, gamete, embryo, staff, and equipment safety.
How to Perform a Baseline Ultrasound for Subfertility
Authors: Deslandes Alison
Published: January 2024

The presentation, “How to Perform a Baseline Ultrasound for Subfertility,” delves into the crucial role of ultrasound in assessing and diagnosing subfertility in female patients.

This educational session aims to equip healthcare professionals with essential knowledge and skills to perform baseline ultrasounds effectively. The presentation will emphasise the value of ultrasound as a non-invasive and informative diagnostic tool. Attendees will gain insights into the specific indications for baseline ultrasound, including assessment of pelvic structures, antral follicle counting, and evaluation for common pathologies contributing to subfertility.

The presentation will then explore the step-by-step procedure for performing a baseline ultrasound, focusing on patient preparation, transducer selection, and image acquisition techniques. Furthermore, the session will delve into common ultrasound findings associated with subfertility, enabling practitioners to recognise and interpret potential abnormalities accurately.

Through this presentation, healthcare professionals will enhance their proficiency in baseline ultrasound, empowering them to contribute significantly to the diagnosis and management of subfertility, ultimately supporting their patients on their journey towards achieving successful pregnancies.
Soft Markers and the Siding Sign
Authors: Deslandes Alison
Published: January 2024

This presentation aims to equip healthcare professionals with valuable insights into the role of soft markers and the siding sign as part of a comprehensive ultrasound to detect endometriosis.

Attendees will learn; — What soft markers and the sliding sign are — Technical considerations to assessing soft marker and the sliding sign — The diagnostic value of these findings and; — Limitation of these findings including how these should be used in clinical management and considerations for communicating these to patients.
When to MRI
Authors: Knox Steven
Published: January 2024

MRI is a non-invasive second line tool which can make a valuable contribution to the diagnosis and pre surgical mapping of pelvic endometriosis. It is validated and serves as an adjunct to high quality ultrasound. It has particular strengths in the mapping of complex obliterative deep cul de sac disease and adjacent organ involvement. It has high sensitivity and specificity in diagnosing pelvic endometriosis and can upstage the degree of endometriosis compared to diagnostic laparoscopy.

The use of MRI for endometriosis in Australia has significantly increased in the last 5 years and there is growing national and international research occurring in this space. Access has also improved dramatically for patients since the allocation of $25m of funding to make available Medicare funding for MRI imaging of suspected significant endometriosis by the Federal Government in mid-2022.

As clinician and community awareness of improved MRI access grows, it is even more important to have a working knowledge of the strengths and weaknesses of MRI for anyone involved in the diagnosis, workup, and management of patients with suspected or proven endometriosis.
Introduction - Biopsy: A Major Factor that Can Impact the Clinical Outcome of PGTs
Authors: Chi Ling
Published: January 2024

Nowadays, blastocyst biopsy is widely used in preimplantation genetic tests (PGTs), especially in preimplantation genetic testing for aneuploidy (PGT-A). Compared to polar body biopsy and cleavage stage biopsy, blastocyst biopsy has a higher consistency in the genetic analysis of human embryos and has a less impact on embryo implantation potentials.

However, the consistency of genetic tests and the clinical outcome of post blastocyst biopsy can vary depending on biopsy practitioners.

This workshop will discuss the handling of blastocyst biopsy procedure with the purpose of helping participants further advance their blastocyst biopsy techniques. We will review the procedure step by step including post biopsy cryopreservation through formal lectures, salon talks, panel discussions and hands-on training. We will also discuss trouble shootings from the perspective of an embryology lab and that of a genetic testing lab.
Common Mistakes While Performing an Embryo Biopsy
Authors: Mantravadi Krishna
Published: January 2024

Embryo biopsy for Pre-Implantation Genetic Testing (PGT) is an advanced intervention in embryology lab requiring technical preciseness. Improper technique can influence the process of genetic evaluation, genetic report, and the reproductive outcomes.

Following are few tips and tricks which help in optimizing the embryo biopsy technique : — It is not recommended to perform embryo biopsy in the same lab where regular embryo cultures are done. Use of UV light and Ethanol for sterilization of consumables might increase the VOCs (volatile organic compounds) and this might affect the embryo development. — Skill of micro-manipulation for an embryologist is very essential for a smooth biopsy technique — Additional care needs to be exercised when inner cell mass is at the site of biopsy or embryo has completely hatched — Negative suction pressures in the biopsy and holding pipettes during biopsy technique have to be well controlled. This avoids damage to the tissues. — Minimum of 6-8 trophectoderm cells need to be biopsied — Post biopsy we need to ensure that there is no remnant tissue on the biopsy pipette. This might bring about cross contamination of DNA. — While tubing care needs to be exercised to avoid excess buffer in the PCR tube. This can increase the chances of “NO DNA” detection. — Post biopsy its preferable to wait for one hour to assess significant damages to the embryo before vitrification — Embryos that have completely hatched need additional care at vitrification. Trophectoderm tissue is very sticky and might get adherent to the culture dish or the cryo-device. — Biopsied tissue post tubing needs to be stored at minus 20 degrees C till it gets shipped for genetic evaluation.
Blastocyst Biopsy - Genetics Lab Perspective
Authors: Gebhardt Kathryn
Published: January 2024

The use of genomics in assisted reproduction has significantly grown over recent years. Preimplantation Genetic Testing for monogenic diseases (PGT-M) and/or numerical/structural chromosomal abnormalities (PGT-A/PGT-SR) are tools for embryo selection aimed at identifying nonaffected and/or euploid embryos in a cohort produced during an IVF cycle. This technology holds the potential to assist in determining whether an embryo created through in-vitro fertilisation (IVF) is likely to result in implantation, increasing the success rate of the procedure and decreasing time to pregnancy (when used appropriately). Genomics in IVF also offers increased options and information to patients when determining their treatment path.

A critical aspect of this technology is the embryo biopsy, which can be performed at multiple stages of embryo development. Studies have determined that the embryo biopsy procedure can have a detrimental impact on the developing embryo. A lesser considered impact is the detrimental effect of biopsy on the preimplantation genetic testing result. Embryologists are faced with the delicate balance of performing a biopsy which yields a suitable sample for downstream testing, while minimising any harm to the developing embryo.

From the embryo biopsy, biopsy sample handling (washing and tubing), storage and transport to the genetics laboratory, the success of the genetics laboratory is dependent, in part, on the starting material received from the embryology laboratory. This presentation will focus on the is importance of the coordination between clinical teams, embryology, and genetics scientists to optimise genetic test results and patient outcomes.
Which Blastocyst to Be Biopsied? - Blastocyst Stage and Quality
Authors: Chang Tiencheng Arthur
Published: January 2024

This talk is an engaging format to address crucial aspects of selecting the most suitable blastocyst for biopsy to optimize the success of PGT procedures and successful pregnancies. The talk commences with an overview of various blastocyst stages and relevant morphological characteristics, elucidating the critical developmental milestones and key aspects of an embryo must attain to be considered for biopsy. Special attention is given to the decision and timing of biopsy to ensure embryo survival and sampling outcome accuracy. This salon talk cultivates an interactive environment and sets the stage for the afternoon hands-on sessions which will further enrich the attendees’ understanding of the topic.
Re-Biopsy and Biopsy of Post-vitrified Blastocyst
Authors: Mantravadi Krishna
Published: January 2024

In the last 45 years embryology lab has witnessed immense scientific and technological advancements. Implementation of new scientific methods is often questioned due to lack of evidence. Though Pre-Implantation Genetic Testing (PGT) and Vitrification have been applied in the field of embryology for more than three decades, lack of evidence about their efficacy still needs further research. Inconclusive results after PGT, might necessitate the need for re-biopsy and there after re-vitrification. Such an intervention is thought to be detrimental to embryo viability and reproductive outcomes. Recent advances in commercial vitrification solutions and an improved skill matrix have enabled 100% embryo survival possible. Application of LASER for PGT seem to be a safer intervention with minimal damage to embryos. Both these advanced embryology interventions, Vitrification, and use of LASER for PGT allow re-biopsy of embryos and re-vitrification of embryos with optimal survival and reproductive outcomes. However, such an intervention has limited role with poor quality blastocysts. Pre-caution needs to be exercised with vitrified-warmed embryos as the trophectoderm tissue gets very stick at biopsy and there is a chance of complete embryo hatching from zona-pellucida if excessive pressure is applied in the biopsy pipette. Re-biopsy and Re-Vitrification both seem to be possible in reference to the published literature and do seem to offer optimal outcomes.
Genetic Counselling for PGT
Authors: Menezes Melody
Published: January 2024

Preimplantation Genetic Testing for Monogenic Conditions (PGT-M) is increasingly becoming an important reproductive option for individuals and couples planning a pregnancy. In Australia, government funding for PGT-M came into effect in November 2021 and has improved accessibility for families with an increased chance of having a child with a single gene condition. Demand for PGT-M is expected to grow as genetic screening and testing become more widely utilised. In particular, the acceptability of PGT-M as a reproductive option for adult-onset conditions has led to increasing uptake compared to prenatal diagnosis. As indications for the use of PGT-M increase, there is increased complexity and ethical decision-making to balance the autonomy of individuals and the resulting offspring.

Genetic counselling is integral in helping families make informed choices about whether to undergo PGT-M, and if so, how their testing strategy will be individualised to their individual needs. This presentation will use case studies to discuss the counselling and ethical considerations when offering PGT-M.
MitoHOPE: Embryological Aspects
Authors: Zander-Fox Deirdre
Published: January 2024

Mitochondrial diseases are a group of rare genetic disorders that affect the function of mitochondria, the energy-producing structures within cells. These disorders result from mutations in either nuclear DNA or mitochondrial DNA (mtDNA), disrupting normal energy production process, with vital organs such as the brain, heart, muscles, and nervous system suffering from insufficient energy supply. Symptoms of mitochondrial disease are diverse however commonly include muscle weakness, fatigue, neurological issues, developmental delays, and organ dysfunction. Treatment options for mitochondrial disease are limited and primarily focus on managing symptoms and supporting affected organ systems. Currently, no cure exists, making early detection crucial to better manage the condition’s progression.

Research efforts and advances in genetic technology offer hope for improved diagnostic methods and potential therapies in the future and for patients where the disease is caused by mutations in mtDNA, mitochondrial donation technology has also been developed in the hope of providing patients a means of having a family, with a reduced likelihood of passing on mtDNA disease to their offspring.

Mitochondrial donation technology, also known as mitochondrial replacement therapy (MRT), is a ground-breaking medical technique designed to prevent the transmission of mitochondrial diseases from mother to child. This cutting-edge procedure involves replacing defective mitochondria in a woman’s egg with healthy mitochondria/cytoplasm from an egg donor using primarily either miotic spindle transfer (MST) or pro-nuclear transfer (PNT).

Recently in Australia a MRFF grant has been awarded to facilitate bringing MRT to patients in Australia who have mtDNA disease and offering it as part of a clinical trial (mitoHOPE). As part of this, considerations must be given to how this technology is applied in a clinical IVF lab setting, specifically the equipment used, the technology that is selected (MST vs PNT) and optomised, the training of the clinical embryologists and the management of the oocyte donor program, all of which are crucial to ensure optimal clinical trial and technology provision.