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Objectives: To describe ultrasound features of fetal ovarian cysts as reported by the original ultrasound examiner, to apply International Ovarian Tumor Analysis (IOTA) terminology after retrospective analysis of the images and to describe patient management and evolution of fetal cysts during pregnancy and after delivery. Methods: This retrospective observational study included pregnant women diagnosed on ultrasound examination with a fetal ovarian cyst at the Prenatal Diagnosis Division of the Bambino Gesù Children's Hospital, in Rome, between March 2011 and May 2020. Cysts were classified by the original ultrasound examiner as 'simple' (unilocular anechoic cyst) or 'complex' (cyst with other morphology). In addition, three ultrasound examiners, experienced in gynecologic ultrasound, classified retrospectively the fetal ovarian cysts according to IOTA terminology, by reviewing stored ultrasound images. The evolution of these fetal ovarian cysts during pregnancy and after birth was recorded. Results: Included were 51 ovarian cysts in 48 fetuses. Of the 51 cysts, 29 (56.9%) had been classified by the original ultrasound examiner as 'simple', and 22 (43.1%) as 'complex'. Of the simple cysts, the majority (20/29 (69.0%)) resolved spontaneously after delivery, 2/29 (6.9%) resolved following intrauterine aspiration, 2/29 (6.9%) resolved after postnatal aspiration and 5/29 (17.2%) underwent surgery due to persistence after delivery; in all five, normal ovarian parenchyma without signs of necrosis was observed at histology. Of the complex cysts, 7/22 (31.8%) resolved spontaneously. The other 15/22 (68.2%) were removed surgically and, at histology, necrosis was observed in most (12/15 (80.0%)), while a benign epithelial cyst with normal ovarian parenchyma was observed in 3/15 (20%). After reviewing the ultrasound images and applying IOTA terminology, all 51 (100%) fetal cysts were described as unilocular; 29/51 (56.9%) cysts showed anechoic content (described as simple cysts by the original ultrasound examiner), and 10/51 (19.6%) had low‐level, 1/51 (2.0%) had ground‐glass, 9/51 (17.6%) had hemorrhagic, 1/51 (2.0%) had mixed and 1/51 (2.0%) had undefined content (all described as complex by the original ultrasound examiner). Among the 29 anechoic ovarian cysts, resolution was observed in most (24/29, 82.8%) cases. Similarly, resolution was observed in 7/10 (70.0%) cysts with low‐level content. Resolution was not observed in any of the other 12 cysts and all of these cases underwent surgery, with evidence of necrosis being observed in 11 (91.7%). Conclusions: Applying IOTA terminology provided a more detailed and accurate description of fetal ovarian cysts compared with the original classification into 'simple' and 'complex' categories. Anechoic cysts (described as simple cysts by the original ultrasound examiner) and cysts with low‐level content (described as complex by the original ultrasound examiner) frequently resolved spontaneously. Cysts with ground‐glass, hemorrhagic, mixed or undefined content were frequently associated with necrosis at histology following surgery. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

This article, titled "EP09.38: Placental pathology in pregnancies complicated by right heart obstructive lesions," explores the characteristics of placentas in pregnancies with right heart obstructive congenital lesions (RHO) and their correlation with morphological and ultrasound anomalies. The study analyzed 112 fetal placentas affected by coronary heart disease (CHD) from March 2021 to October 2023. The results showed that RHO+ placentas displayed signs of vascular malperfusion (VM) on the fetal side, with higher avascular villi and fetal inflammatory infiltrate. The study suggests that further investigation is needed to understand the unique pathophysiology of RHO+ placentas. [Extracted from the article]

This article explores the relationship between placental malperfusion (PM) and congenital heart disease (CHD) in pregnancies. The study analyzed 95 fetal placentas affected by CHD and categorized placental pathology as maternal placental malperfusion (MPM), fetal placental malperfusion (FPM), and combined maternal-fetal placental malperfusion (MFPM). The results showed a higher prevalence of PM in patients with pathologies involving pulmonary overflow volume (OV) and transposition of great arteries (TGA). The study confirms an association between placental vascular anomalies and fetal CHD, but notes that the higher prevalence of PM in patients with OV may be influenced by comorbidities. [Extracted from the article]

Objectives: To quantify mediastinal shift in isolated congenital diaphragmatic hernia (CDH), by the introduction of a new ultrasonographic (US) marker, defined as mediastinal shift angle (MSA) and to evaluate its ability in predicting postnatal survival at discharge.Methods: Twenty-four consecutive fetuses from singleton pregnancies with isolated left-sided CDH were included in the study group and then subdivided into group A (16 survivors) and group B (8 nonsurvivors). The study group was matched with a control group of 95 fetuses from singleton pregnancies free from structural and/or chromosomal anomalies. On the same US stored images commonly used for lung-to-head ratio (LHR) measurement, a landmark line was drawn from a point on the posterior face of the vertebral body, splitting it into two equal parts, to the mid-posterior surface of the sternum. Another landmark line was then traced from the same point of the vertebral body to touch tangentially the lateral wall of the right atrium. The angle between these two lines was used to quantify mediastinal shift and called "mediastinal shift angle" (MSA).Results: Median MSA was significantly different between group A (34.3° range 29.3-45.9°) and group B (42.7° range 34.1-58.9°) (p < .001) and between study group as a whole and the control group (19° range 13.8-25.9°) (p < .001). Statistical analysis confirmed an inverse correlation between MSA values and survival (p = .004). The best cutoff value for MSA was 43.7°, which demonstrated the highest discriminatory power (sensitivity 63%; specificity 93.75%).Conclusions: In fetuses with isolated CDH, the mediastinal shift may be quantified using mediastinal shift angle (MSA) and this US marker, similarly to the widely accepted and used US prenatal prognostic indicators (LHR and O/E LHR), seems to reliably predict survival. [ABSTRACT FROM AUTHOR]

Previous studies have evidenced cognitive difficulties across various domains in Type 1 Diabetes Mellitus (T1DM) children, but the implicit memory system has not yet been systematically explored. Taking into account that the interplay between memory and perception may be modulated by the semantic category of the stimuli and their salience, we explored explicit and implicit memory using both object and food stimuli to verify whether for T1DM children there is a feebleness in performing the function of memory as a function of the stimuli used. Eighteen T1DM children and 47 healthy children performed an explicit recognition task in which they were requested to judge whether the presented image had already been shown ("old") or not ("new") and an identification priming task in which they were asked to name new and old pictures presented at nine ascending levels of spatial filtering. Results did not reveal any differences between controls and T1DM children in the explicit memory recognition task, whereas some differences between the two groups were found in the identification priming task. In T1DM children, the priming effect was observed only for food images. The dissociation between implicit and explicit memory observed in children with diabetes seems to be modulated by the category of the stimuli, and these results underscore the relevance of taking into account this variable when exploring cognitive functions. [ABSTRACT FROM AUTHOR]

Overall, we observed 5 (3%) cystic fibrosis, 10 (5%) other genetic disorders, 13 (7%) congenital infections, 5 (3%) neonatal deaths, 12 (7%) intestinal anomalies, 24 (13%) other malformations, and 19 (10%) experienced IUGR. Fetal and neonatal demise, intrauterine growth retardation (IUGR), associated anomalies, genetic disorders (including cystic fibrosis) and congenital infection were evaluated. When persistent HB were present, an increase rate of congenital infection and bowel dilatation were observed (14% versus 4%; p = 0,03 and 52% versus 23%; p = 0,0007, respectively). [Extracted from the article]

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Deficient voluntary control of behaviour and impulsivity are key aspects of impulse control disorders. The objective of the present study was to evaluate the relationship between behavioural measures of impulsivity and the awareness of voluntary action. Seventy-four healthy volunteers completed the Barratt Impulsiveness Scale ( BIS), a questionnaire used to measure impulsive personality traits, and a go/no-go task. Moreover, all participants performed a behavioural task based on the Libet's clock paradigm in which they were requested to report the time of a self-initiated movement (M-judgement) or the time they first feel their intention to move (W-judgement). A positive relationship between the time in which subjects reported the intention to move (W-judgement) and impulsivity measures emerged. Namely, the higher was the score in the attentional and motor impulsivity subscales of the BIS and the number of inhibitory failure responses in the go/no-go task, the lower was the difference between the W-judgement and the actual movement (i.e. the awareness of intention to move was closer to the voluntary movement execution). In contrast, no relationship emerged with M-judgement. The present findings suggest that impulsivity is related to a delayed awareness of voluntary action. We hypothesize that in impulse control disorders, the short interval between conscious intention and actual movement may interfere with processes underlying the conscious 'veto' of the impending action. [ABSTRACT FROM AUTHOR]

Prenatal findings were present in 10/13 (77% patients) in Group A and in 2/8 (25%) patients in Group B (p 0.03). Thirteen patients were in group A (CC>3) and 8 in Group B CC < 3). [Extracted from the article]

It is reported that many infants with CDH have evidence of brain injury on postnatal brain magnetic resonance imaging (MRI). Results HT

To describe ultrasound features of fetal ovarian cysts as reported by the original ultrasound examiner and according to IOTA terminology. Ovarian cysts with low level content could be managed expectantly, whereas ovarian cysts with other cyst content should be managed with postnatal surgery, due to the high risk of necrosis at final histology. [Extracted from the article]

The Precipitation Estimation at Microwave Frequencies (PEMW) algorithm was developed at the Institute of Methodologies for Environmental Analysis of the National Research Council of Italy (IMAA-CNR) for inferring surface rain intensity (sri) from satellite passive microwave observations in the range from 89 to 190 GHz. The operational version of PEMW (OPEMW) has been running continuously at IMAA-CNR for two years. The OPEMW sri estimates, together with other precipitation products, are used as input to an operational hydrological model for flood alert forecast. This paper presents the validation of OPEMW against simultaneous ground-based observations from a network of 20 weather radar systems and a network of more than 3000 rain gauges distributed over the Italian Peninsula and main islands. The validation effort uses a data set covering one year (July 2011-June 2012). The effort evaluates dichotomous and continuous scores for the assessment of rain detection and quantitative estimate, respectively, investigating both spatial and temporal features. The analysis demonstrates 98% accuracy in correctly identifying rainy and nonrainy areas; it also quantifies the increased ability (with respect to random chance) to detect rainy and non-rainy areas (0.42-0.45 Heidke skill score) or rainy areas only (0.27-0.29 equitable threat score). Performances are better than average during summer, fall, and spring, while worse than average in the winter season. The spatial-temporal analysis does not show seasonal dependence except over the Alps and northern Apennines during winter. A binned analysis in the 0-15mmh-1 range suggests that OPEMW tends to slightly overestimate sri values below 6-7mmh-1 and underestimate sri above those values. With respect to rain gauges (weather radars), the correlation coefficient is larger than 0.8 (0.9). The monthly mean difference and standard deviation remain within ±1 and 2mmh-1 with respect to rain gauges (respectively -2-0 and 4mmh-1 with respect to weather radars). [ABSTRACT FROM AUTHOR]

The phenomenological description of the neutral B meson system is proposed in terms of the fundamental CP-violating observables and within a rephasing invariant formalism. This generic formalism cain select the time-dependent and time-integrated a symmetries which provide the basic tools to discriminate the different kinds of possible CP-violating effects in dedicated experimental B meson facilities. [ABSTRACT FROM AUTHOR]

We studied the pharmacokinetics of cefepime (2 g bd) in six burns patients. Blood, urine and skin samples were collected to measure cefepime concentrations. A two-compartment model was fitted to the data. At day 1, t1/2β was 2.45 ± 0.56 h, Vss 0.36 ± 0.1 L/kg, total clearance 152 ± 25.2 mL/min, and AUC 217 ± 34 mg•h/L. There was no statistical difference between day 1 and day 3 for any of the pharmacokinetic parameters. We demonstrated good penetration of cefepime in skin. These results show that it is not necessary to change the standard dosage of cefepime in burns patients. [ABSTRACT FROM PUBLISHER]

An abstract of the article "Fetal thymus and steroid treatment: the effect of prenatal therapy on sonographic measurements" by L. Guariglia, S. Buongiorno, P. Ciliberti and others is presented.

Trithorax-related H3K4 methyltransferases, KMT2C and KMT2D, are critical epigenetic modifiers. Haploinsufficiency of KMT2C was only recently recognized as a cause of neurodevelopmental disorder (NDD), so the clinical and molecular spectrums of the KMT2C-related NDD (now designated as Kleefstra syndrome 2) are largely unknown. We ascertained 98 individuals with rare KMT2C variants, including 75 with protein-truncating variants (PTVs). Notably, ∼15% of KMT2C PTVs were inherited. Although the most highly expressed KMT2C transcript consists of only the last four exons, pathogenic PTVs were found in almost all the exons of this large gene. KMT2C variant interpretation can be challenging due to segmental duplications and clonal hematopoesis-induced artifacts. Using samples from 27 affected individuals, divided into discovery and validation cohorts, we generated a moderate strength disorder-specific KMT2C DNA methylation (DNAm) signature and demonstrate its utility in classifying non-truncating variants. Based on 81 individuals with pathogenic/likely pathogenic variants, we demonstrate that the KMT2C-related NDD is characterized by developmental delay, intellectual disability, behavioral and psychiatric problems, hypotonia, seizures, short stature, and other comorbidities. The facial module of PhenoScore, applied to photographs of 34 affected individuals, reveals that the KMT2C-related facial gestalt is significantly different from the general NDD population. Finally, using PhenoScore and DNAm signatures, we demonstrate that the KMT2C-related NDD is clinically and epigenetically distinct from Kleefstra and Kabuki syndromes. Overall, we define the clinical features, molecular spectrum, and DNAm signature of the KMT2C-related NDD and demonstrate they are distinct from Kleefstra and Kabuki syndromes highlighting the need to rename this condition., Competing Interests: Declaration of interests R.W. is a consultant (equity) for Alamya Health., (Copyright © 2024 American Society of Human Genetics. All rights reserved.)

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare variants contribute significantly to risk. We performed whole genome and/or exome sequencing (WGS and WES) and SNP-array analysis to identify both rare sequence and copy number variants (SNVs and CNVs) in 435 individuals from 116 ASD families. We identified 37 rare potentially damaging de novo SNVs (pdSNVs) in the cases (n = 144). Interestingly, two of them (one stop-gain and one missense variant) occurred in the same gene, BRSK2. Moreover, the identification of 8 severe de novo pdSNVs in genes not previously implicated in ASD (AGPAT3, IRX5, MGAT5B, RAB8B, RAP1A, RASAL2, SLC9A1, YME1L1) highlighted promising candidates. Potentially damaging CNVs (pdCNVs) provided support to the involvement of inherited variants in PHF3, NEGR1, TIAM1 and HOMER1 in neurodevelopmental disorders (NDD), although mostly acting as susceptibility factors with incomplete penetrance. Interpretation of identified pdSNVs/pdCNVs according to the ACMG guidelines led to a molecular diagnosis in 19/144 cases, although this figure represents a lower limit and is expected to increase thanks to further clarification of the role of likely pathogenic variants in ASD/NDD candidate genes not yet established. In conclusion, our study highlights promising ASD candidate genes and contributes to characterize the allelic diversity, mode of inheritance and phenotypic impact of de novo and inherited risk variants in ASD/NDD genes., (© 2024. The Author(s).)

Objective: To relate the distance traveled from the patient's residence to the gestational trophoblastic neoplasia (GTN) reference center (RC) and the occurrence of unfavorable clinical outcomes, as well as to estimate the possible association between this distance and the risk of metastatic disease at presentation, the need for multiagent chemotherapy to achieve remission and loss to follow-up before remission., Study Design: Retrospective historical cohort study of patients with GTN followed at 8 Brazilian GTN-RC, from January 1st, 2000 - December 31st, 2017., Results: Evaluating 1055 cases of GTN, and using a receiver operating characteristic curve, we found a distance of 56 km (km) from the residence to the GTN-RC (sensitivity = 0.57, specificity = 0.61) best predicted the occurrence of at least one of the following outcomes: occurrence of metastatic disease, need for multiagent chemotherapy to achieve remission, or loss to follow-up during chemotherapy. Multivariate logistic regression adjusted by age, ethnicity, marital status and the reference center location showed that when the distance between residence and GTN-RC was ≥56 km, there was an increase in the occurrence of metastatic disease (relative risk - RR:3.27; 95%CI:2.20-4.85), need for multiagent chemotherapy (RR:1.36; 95%CI:1.05-1.76), loss to follow-up during chemotherapy (RR:4.52; 95CI:1.93-10.63), occurrence of chemoresistance (RR:4.61; 95%CI:3.07-6.93), relapse (RR:10.27; 95%CI:3.08-34.28) and death due to GTN (RR:3.62; 95%CI:1.51-8.67)., Conclusions: The distance between the patient's residence and the GTN-RC is a risk factor for unfavorable outcomes, including death from this disease. It is crucial to guarantee these patients get prompt access to the GTN-RC and receive follow-up support., (Copyright © 2023 Elsevier Inc. All rights reserved.)