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The role of strigolactones as plant growth regulators has been demonstrated through research on biosynthesis and signaling mutant plants and through the use of GR24, a synthetic analog of this class of molecules. Strigolactone mutants show a bushy phenotype and GR24 application inhibits the growth of axillary buds in these mutants, thus restoring the phenotype of a wild plant, which is characterized by a stronger apical dominance. In this work, we tested the effectiveness of this chemical on pea ( Pisum sativum ) plants following apex removal, which disrupts apical dominance and leads to axillary bud outgrowth. Moreover, we searched for relationships between the response to the strigolactone and gibberellin metabolism by applying GR24 to both climbing and dwarf peas, the latters being mutants for gibberellin biosynthesis. The results suggest that the endogenous level of the bioactive gibberellin GA 1 might modulate the response of decapitated pea plants to GR24, by changing bud sensitivity to the applied strigolactone.

Changes in the concentrations of bioactive gibberellins and abscisic acid in the cambial region of white poplar (Populus alba L.) were investigated in 1-year-old plants, to highlight how these phytohormone signals are modulated in response to water deficit. Plants were cultivated in pots outdoor and, at the time of maximum cambial growth (T ₀), irrigation was withdrawn for 8 days, inducing a mild water deficit, thus mimicking a condition that is recurrent in Mediterranean climates when white poplar attains its maximum growth rate. The water deficit was suspended by resuming irrigation (T ₘₐₓ) throughout a recovery period of 2 weeks (T ᵣₑc). Cambial tissues were sampled at T ₀, T ₘₐₓ, and T ᵣₑc. Significant changes of leaf and stem relative water content, leaf water potential, stomatal conductance, transpiration, carbon assimilation, stem shrinkage, and leaf number were induced by soil water shortage, which also negatively affected cambium development. Nevertheless, these responses were almost fully reversed following the resumption of irrigation. Water deficit induced the accumulation of large amounts of abscisic acid in cambial tissues, but the hormone was brought back to pre-stress levels after the recovery period. With regard to bioactive gibberellins, GA₁ was several folds more abundant than GA₄ and reached the greatest level in the plants recovering from the water status imbalance. The possible functions of gibberellins and abscisic acid in the response of cambial tissues to water deficit are discussed in view of the known physiological roles and molecular mechanisms of action of these hormonal signals.

Functional hypothalamic amenorrhea (FHA) is one of the most common causes of both primary and secondary amenorrhea in women of reproductive age. It is characterized by chronic anovulation and the absence of menses that appear as a result of stressors such as eating disorders, excessive exercise, or psychological distress. FHA is presumed to be a functional disruption in the pulsatile secretion of hypothalamic gonadotropin-releasing hormone, which in turn impairs the release of gonadotropin. Hypoestrogenism is observed due to the absence of ovarian follicle recruitment. Numerous neurotransmitters have been identified which play an important role in the regulation of the hypothalamic-pituitary-ovarian axis and of which the impairment would contribute to developing FHA. In this review we summarize the most recent advances in the identification of contributing neuroendocrine disturbances and relevant contributors to the development of FHA.

BackgroundPostzygotic activating PIK3CA variants cause several phenotypes within the PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific tissue involvement and overlapping disorders are responsible for disease heterogeneity. We explored these factors in 150 novel patients and in an expanded cohort of 1007 PIK3CA-mutated patients, analysing our new data with previous literature to give a comprehensive picture.MethodsWe performed ultradeep targeted next-generation sequencing (NGS) on DNA from skin biopsy, buccal swab or blood using a panel including phosphatidylinositol 3-kinase/AKT/mammalian target of rapamycin pathway genes and GNAQ, GNA11, RASA1 and TEK. Additionally, 914 patients previously reported were systematically reviewed.Results93 of our 150 patients had PIK3CA pathogenetic variants. The merged PROS cohort showed that PIK3CA variants span thorough all gene domains, some were exclusively associated with specific PROS phenotypes: weakly activating variants were associated with central nervous system (CNS) involvement, and strongly activating variants with extra-CNS phenotypes. Among the 57 with a wild-type PIK3CA allele, 11 patients with overgrowth and vascular malformations overlapping PROS had variants in GNAQ, GNA11, RASA1 or TEK.ConclusionWe confirm that (1) molecular diagnostic yield increases when multiple tissues are tested and by enriching NGS panels with genes of overlapping ‘vascular’ phenotypes; (2) strongly activating PIK3CA variants are found in affected tissue, rarely in blood: conversely, weakly activating mutations more common in blood; (3) weakly activating variants correlate with CNS involvement, strong variants are more common in cases without; (4) patients with vascular malformations overlapping those of PROS can harbour variants in genes other than PIK3CA.

Polycystic ovary syndrome (PCOS) is one of the most prevalent endocrine disorders affecting women of reproductive age, with an estimated prevalence of 5-10%. Women with PCOS are at increased risk for metabolic disturbances. A significant proportion of women with PCOS, ranging from 40 to 85%, are either overweight or obese. Oral contraception is the standard first line treatment for PCOS. However, certain conditions associated with PCOS, such as obesity, must be considered when deciding to prescribe combined oral contraception. It seems that there is no clinical advantage in using high-dose ethinyl estradiol over low-dose formulations. Lower-dose EE formulations may be considered a safer option for obese PCOS patients. Combined oral contraception containing natural estrogens, which have a beneficial effect on metabolic parameters, could also be a viable option for this group. Progestin-only (POPs) formulations have minimal metabolic effects, making them a safe contraceptive choice for patients with obesity and a high risk of coronary artery disease, cerebrovascular disease, venous thromboembolism, or hypertension. Non-oral contraceptive methods, such as transdermal patches and vaginal rings, offer a valuable alternative for women with PCOS who prefer not to use daily oral contraceptives. However, the absence of anti-androgenic progestins in these contraceptive methods may limit their effectiveness, especially for women with moderate to severe clinical signs of androgen excess. The use of LNG-IUDs in women with PCOS may be beneficial in several ways. First, in cases where other contraceptive methods are contraindicated, the LNG-IUD provides effective contraception while also regulating abnormal uterine bleeding. Additionally, the relative hyperestrogenism associated with anovulation in PCOS can lead to endometrial hyperplasia with atypia and, in severe cases, endometrial cancer. Therefore, in women with both PCOS and obesity, the LNG-IUD may be preferred over oral megestrol acetate for endometrial protection.

Objective The aim of this study is to describe the pre‐ and post‐operative developmental and intellectual functions in a cohort of patients who underwent surgery for drug‐resistant epilepsy (DRE) before the age of 5 years. Method We retrospectively reviewed the medical records and neurodevelopmental assessments of a cohort of 80 surgically treated pediatric patients with DRE. We included patients if they had at least one pre‐ and one post‐surgical neuropsychological assessments; 27 met the inclusion criteria. We evaluated Developmental Quotient (DQ) and Intelligence Quotient (IQ) before and after surgery. We identified two groups based on psychological evaluation outcome: Group 1, with stable or improved developmental and intellectual functions, and Group 2, experiencing developmental and intellectual loss. Results The mean age at seizure onset was 1.2 ± 1.0 years, and the mean age at surgery was 2.9 ± 1.2 years. At the last follow‐up (mean 4 years, SD ± 2), 19/27 (70%) patients were seizure‐ and drug‐free; 18/27 patients (67%) fit in Group 1, and 9/27 (33%) fit in Group 2. The mean age at surgery was 2.6 years (SD ± 1.1; range 1.2–5.1) in Group 1 and 3.4 years in Group 2 (SD ± 1.1; range 1.6–5.0). Group 1 had a lower pre‐operative DQ/IQ total score than Group 2 (median DQ/IQ respectively 82 vs 108, p = 0.05). Between pre‐ and post‐assessments, we found that in Group 1, Performance scores improved (82.7 vs 102, p = 0.001), while in Group 2, the Total and Verbal scores worsened (respectively 108 vs 75, p = 0.008, and 100 vs 76, p = 0.021). Significance Our study's results emphasize the positive impact of surgery before the age of 5 years on developmental and intellectual outcomes. Despite limitations such as a small sample size, lack of a control group, and diverse etiologies, our findings support the crucial role of early intervention in preserving or enhancing developmental and intellectual functions in young patients with DRE. Plain Language Summary This retrospective study, conducted at the Bambino Gesù Children Hospital in Italy, reports neuropsychological and developmental and/or cognitive data for children undergoing early epilepsy surgery (before the age of 5). It found that children with lower developmental or cognitive profiles gained the highest scores on post‐operative neuropsychological evaluations. This study provides information on the potential benefits of early surgery in shortening the duration of epilepsy, preventing or arresting deterioration, and enhancing plasticity and recovery.

Khorasan wheat is an ancient grain with previously reported health benefits in clinically healthy subjects. The aim of this study was to examine whether a replacement diet, thereby substituting all other cereal grains, with products made with organic khorasan wheat could provide additive protective effects in reducing lipid, oxidative and inflammatory risk factors, in patients with Acute Coronary Syndromes (ACS) in comparison to a similar replacement diet using products made from organic modern wheat. A randomized double-blinded crossover trial with two intervention phases was conducted on 22 ACS patients (9 F; 13 M). The patients were assigned to consume products (bread, pasta, biscuits and crackers) made either from organic semi-whole khorasan wheat or organic semi-whole control wheat for eight weeks in a random order. On average, patients ingested 62.0 g dry weight (DW) day−1 khorasan or control semolina; and 140.5 g DW day−1 khorasan or control flour, respectively. An eight-week washout period was implemented between the respective interventions. Blood analyses were performed both at the beginning and end of each intervention phase; thereby permitting a comparison of both the khorasan and control intervention phases, respectively, on circulatory risk factors for the same patient. Consumption of products made with khorasan wheat resulted in a significant amelioration in total cholesterol (−6.8%), low-density lipoprotein cholesterol (LDL-C) (−8.1%) glucose (−8%) and insulin (−24.6%) from baseline levels, independently of age, sex, traditional risk factors, medication and diet quality. Moreover, there was a significant reduction in reactive oxygen species (ROS), lipoperoxidation of circulating monocytes and lymphocytes, as well as in the levels of Tumor Necrosis Factor-alpha. No significant differences from baseline in the same patients were observed after the conventional control wheat intervention phase. The present results suggest that a replacement diet with cereal products made from organic khorasan wheat provides additional protection in patients with ACS. Circulating cardiovascular risk factors, including lipid parameters, and markers of both oxidative stress and inflammatory status, were reduced, irrespective of the number and combination of medicinal therapies with proven efficacy in secondary prevention.

International Guidelines consider left ventricular ejection fraction (LVEF) as an important parameter to categorize patients with heart failure (HF) and to define recommended treatments in clinical practice. However, LVEF has some technical and clinical limitations, being derived from geometric assumptions and is unable to evaluate intrinsic myocardial function and LV filling pressure (LVFP). Moreover, it has been shown to fail to predict clinical outcome in patients with end-stage HF. The analysis of LV antegrade flow derived from pulsed-wave Doppler (stroke volume index, stroke distance, cardiac output, and cardiac index) and non-invasive evaluation of LVFP have demonstrated some advantages and prognostic implications in HF patients. Speckle tracking echocardiography (STE) is able to unmask intrinsic myocardial systolic dysfunction in HF patients, particularly in those with LV preserved EF, hence allowing analysis of LV, right ventricular and left atrial (LA) intrinsic myocardial function (global peak atrial LS, (PALS)). Global PALS has been proven a reliable index of LVFP which could fill the gaps “gray zone” in the previous Guidelines algorithm for the assessment of LV diastolic dysfunction and LVFP, being added to the latest European Association of Cardiovascular Imaging Consensus document for the use of multimodality imaging in evaluating HFpEF. The aim of this review is to highlight the importance of the hemodynamics multiparametric approach of assessing myocardial function (from LVFP to stroke volume) in patients with HF, thus overcoming the limitations of LVEF.

Background: Right ventricular thrombosis (RVT) is rarely detected in clinical practice. Depending on its aetiology, RVT may originate from a deep venous thrombosis (type A) or in situ (type B). Type A is characterized by increased mobility and frequent pulmonary embolization, whereas type B is nonmobile and is associated with significant right ventricular (RV) dilatation and dysfunction. Methods: A type B RVT complicated by subsegmental pulmonary embolism (PE) was diagnosed in a 46-year-old man with acute-on-chronic respiratory failure secondary to acute exacerbation of interstitial lung disease. He underwent a multimodality imaging assessment of the RV mass that comprehensively incorporated TTE, TEE, contrast-enhanced chest CT, and LGE-CMR. Results: During the clinical course, a serial echocardiographic assessment of the RV mass allowed for a dynamic evaluation of its features and cardiac haemodynamics. Conventional TTE was implemented with colour tissue Doppler imaging (TDI) and pulsed wave (PW) TDI to improve the visualization of the RV mass and to objectively measure its mobility. The increased RVT mass peak antegrade velocity (>10 cm/s) was predictive of subsequent RVT fragmentation and PE. Conclusions: Colour TDI and PW-TDI may aid in the differential diagnosis of RV masses and may improve the prognostic risk stratification of patients with right-sided intracardiac masses.