Development and clinical validation of real-time artificial intelligence diagnostic companion for fetal ultrasound examination.

OBJECTIVE: Prenatal diagnosis of a rare disease on ultrasound relies on a physician's ability to remember an intractable amount of knowledge. We developed a real-time decision support system (DSS) that suggests, at each step of the examination, the next phenotypic feature to assess, optimizing the diagnostic pathway to the smallest number of possible diagnoses. The objective of this study was to evaluate the performance of this real-time DSS using clinical data. METHODS: This validation study was conducted on a database of 549 perinatal phenotypes collected from two referral centers (one in France and one in the UK). Inclusion criteria were: at least one anomaly was visible on fetal ultrasound after 11 weeks' gestation; the anomaly was confirmed postnatally; an associated rare disease was confirmed or ruled out based on postnatal/postmortem investigation, including physical examination, genetic testing and imaging; and, when confirmed, the syndrome was known by the DSS software. The cases were assessed retrospectively by the software, using either the full phenotype as a single input, or a stepwise input of phenotypic features, as prompted by the software, mimicking its use in a real-life clinical setting. Adjudication of discordant cases, in which there was disagreement between the DSS output and the postnatally confirmed ('ascertained') diagnosis, was performed by a panel of external experts. The proportion of ascertained diagnoses within the software's top-10 differential diagnoses output was evaluated, as well as the sensitivity and specificity of the software to select correctly as its best guess a syndromic or isolated condition. RESULTS: The dataset covered 110/408 (27%) diagnoses within the software's database, yielding a cumulative prevalence of 83%. For syndromic cases, the ascertained diagnosis was within the top-10 list in 93% and 83% of cases using the full-phenotype and stepwise input, respectively, after adjudication. The full-phenotype and stepwise approaches were associated, respectively, with a specificity of 94% and 96% and a sensitivity of 99% and 84%. The stepwise approach required an average of 13 queries to reach the final set of diagnoses. CONCLUSIONS: The DSS showed high performance when applied to real-world data. This validation study suggests that such software can improve perinatal care, efficiently providing complex and otherwise overlooked knowledge to care-providers involved in ultrasound-based prenatal diagnosis. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Mental health status of individuals with sexual development disorders: A review.

Healthcare recommendations for people with disorders of sexual development (DSDs) include mental health attention and active participation of psychiatrists and psychologists in dedicated multidisciplinary teams. Therefore, it seems crucial for them to improve knowledge about specific difficulties and needs of these patients. The aim of this article is to report in a synthesizing manner the recent works evaluating the mental health and psychological status of individuals with DSDs. After research conducted using PubMed and ScienceDirect, 18 studies were inventoried and qualitatively analyzed in response to three main questions: Do individuals with DSDs suffer more frequently and/or more severely from psychological conditions or mental disorders? From what kind of disorder do they suffer? and What are the determinant factors involved in their development? This work highlights an increased risk of affective disorders in individuals with DSDs, particularly anxiety and depressive disorders and interpersonal difficulties. Studies identified some potentially determining factors implicated in their development, among which are the etiology of DSDs, the life stage, the age at the time of diagnosis, and the lack of conformity of sexual phenotype with sex assignment. Taken together, the etiology of DSDs, the lack of conformity of sexual phenotype with sex assignment, and the feeling of being different from peers seem to be interesting factors to study in the future. Multicentric and longitudinal studies using standardized evaluation and control groups should be the most robust way to improve knowledge about these preoccupations.

Atomic-scale study of stacking faults in Zr hydrides and implications on hydride formation.

We performed atomic-scale ab initio calculations to investigate the stacking fault (SF) properties of the metastable ζ-Zr2H zirconium hydride. The effect of H near the SF was found to entail the existence of negative SF energies, showing that the ζ compound is probably unstable with respect to shearing in the basal plane. The effect of temperature on SFs was investigated by means of free energy calculations in the quasiharmonic approximation. This evidenced unexpectedly large temperature effects, confirming the main conclusions drawn at 0 K, in particular the ζ mechanical instability. The complex behaviour of H atoms during the shear process suggested ζ-hcp → Zr2H[Formula: see text]-fcc as a plausible shear path leading to an fcc compound with same composition as ζ. Finally, as shown by an analysis based on microelasticity, this Zr2H[Formula: see text]-fcc intermediate compound may be relevant for better interpreting the currently intricate issue of hydride habit planes in zirconium.

The effect of metabolic syndrome on postoperative outcomes following laparoscopic colectomy.

BACKGROUND: Among the criteria used to diagnose metabolic syndrome (MS), obesity and diabetes mellitus (DM) are associated with poor postoperative outcomes following colectomy. MS is also associated with colorectal cancer (CRC) and diverticulosis, both of which may be treated with colectomy. However, the effect of MS on postoperative outcomes following laparoscopic colectomy has yet to be clarified. METHODS: In an academic tertiary hospital, data from all consecutive patients undergoing laparoscopic colectomy from 2005 to 2014 were prospectively recorded and analysed. Patients presenting with MS [defined by the presence of three or more of the following criteria: elevated blood pressure, body mass index > 28 kg/m2, dyslipidemia (decreased serum HDL cholesterol, increased serum triglycerides) and increased fasting glucose/DM] were compared with patients without MS regarding peri-operative outcome [mainly anastomotic leaks, severe postoperative complications (Clavien-Dindo III and IV)] and mortality. RESULTS: Overall, 1236 patients were included: 508 (41.1%) right colectomies and 728 (58.9%) left colectomies. Seven hundred seventy-two (62.4%) of these procedures were performed for CRC. MS was diagnosed in 85 (6.9%) patients, who were significantly older than the others (70 vs. 64.2 years, p < 0.001), and presented with more cardiac comorbidities (p < 0.001). MS was associated with increased blood loss (122.5 vs. 79.9 mL p = 0.001) and blood transfusion requirement (5.9 vs. 1.7%, p = 0.021). The anastomotic leak rate was 6.6% (with 2.2% of anastomotic leaks requiring surgical treatment), and the overall reoperation rate was 6.9%. The incidence of severe postoperative complications was 11.5%, and the overall mortality rate 0.6%. No differences were found between the groups in overall postoperative morbidity and mortality. Median length of stay was similar in both groups (7 days). CONCLUSIONS: MS does not jeopardize postoperative outcomes following laparoscopic colectomy.

Interfacial properties of hydrides in α-Zr: a theoretical study.

In order to better understand hydride formation in zirconium alloys, heterophase interfaces between α-Zr and γ-ZrH are investigated by means of ab initio atomic-scale simulations of multilayers coupled with continuous elasticity. Our approach allows us to separate out the elastic contribution, leading to basal and prismatic [Formula: see text] interface energies around 200 [Formula: see text] and 750 [Formula: see text] respectively, i.e. values noticeably higher than previously found for coherent particles such as ζ-Zr2H. By considering interfacial changes of H contents, the possibility of competing elasticity and chemistry effects for interface stability is analyzed. The effects of the strong anisotropy evident in [Formula: see text] interface energies on the important practical issue of preferential habit planes are discussed, allowing us to propose a plausible explanation for the experimental results.

Contour scanning for penumbra improvement in pencil beam scanned proton therapy.

Proton therapy, especially in the form of pencil beam scanning (PBS), allows for the delivery of highly conformal dose distributions for complex tumor geometries. However, due to scattering of protons inside the patient, lateral dose gradients cannot be arbitrarily steep, which is of importance in cases with organs at risk (OARs) in close proximity to, or overlapping with, planning target volumes (PTVs). In the PBS approach, physical pencil beams are planned using a regular grid orthogonal to the beam direction. In this work, we propose an alternative to this commonly used approach where pencil beams are placed on an irregular grid along concentric paths based on the target contour. Contour driven pencil beam placement is expected to improve dose confirmation by allowing the optimizer to best enhance the penumbra of irregularly shaped targets using edge enhancement. Its effectiveness has been shown to improve dose confirmation to the target volume and reduce doses to OARs in head-and-neck planning studies. Furthermore, the deliverability of such plans, as well as the dosimetric improvements over conventional grid-based plans, have been confirmed in first phantom based verifications.

SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.

Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of NR5A1 mutations in spleen development anomalies was recently highlighted. We provide new evidence of this involvement, describing a novel heterozygous non-sense NR5A1 mutation in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia.

Independent dose calculations for commissioning, quality assurance and dose reconstruction of PBS proton therapy.

Pencil beam scanning proton therapy allows the delivery of highly conformal dose distributions by delivering several thousand pencil beams. These beams have to be individually optimised and accurately delivered requiring a significant quality assurance workload. In this work we describe a toolkit for independent dose calculations developed at Paul Scherrer Institut which allows for dose reconstructions at several points in the treatment workflow. Quality assurance based on reconstructed dose distributions was shown to be favourable to pencil beam by pencil beam comparisons for the detection of delivery uncertainties and estimation of their effects. Furthermore the dose reconstructions were shown to have a sensitivity of the order of or higher than the measurements currently employed in the clinical verification procedures. The design of the independent dose calculation tool allows for a high modifiability of the dose calculation parameters (e.g. depth dose profiles, angular spatial distributions) allowing for a safe environment outside of the clinical treatment planning system for investigating the effect of such parameters on the resulting dose distributions and thus distinguishing between different contributions to measured dose deviations. The presented system could potentially reduce the amount of patient-specific quality assurance measurements which currently constitute a bottleneck in the clinical workflow.

[Prenatal diagnosis of hyperechogenic kidneys: A study of 17 cases]. / Diagnostic anténatal des reins hyperéchogènes : à propos de 17 cas.

OBJECTIVES: To evaluate the prenatal diagnosis and the prognostic value of ultrasound in case of fetal hyperechogenic kidneys. PATIENTS AND METHODS: Seventeen prenatally diagnosed cases of hyperechogenic kidneys were retrospectively reviewed at the University Hospital of Lille from 1997 to 2008. The clinical and ultrasound data were compared to the postnatal follow-up and the long-term prognosis. RESULTS: The aetiologies are nine recessive polycystic kidney diseases, three dominant, two Bardet-Biedl syndromes and three cases of transient renal hyperechogenicity. No renal ultrasonographic criterion is specific of aetiology. Five pregnancies were terminated. We observed one neonatal death and 11 survivors (median follow-up: 30months) including two infants with hypertension. All oligohydramnios (n=8) were associated with poor prenatal outcomes (terminations of pregnancy, neonatal death or hypertension) compared to the other nine with normal amniotic fluid volume (nine children symptom-free). Kidneys less or equal to +4 S.D. and a normal amniotic fluid volume were associated with a good prognosis (n=7, seven symptom-free). CONCLUSION: The fetal kidneys characteristics on prenatal ultrasound fail to provide an accurate etiological diagnosis. Only congenital defects and family history adjust the aetiology. Amniotic fluid volume and fetal kidney size are the best prenatal predictors of outcome.

Sacral neuromodulation in children with urinary and fecal incontinence: a multicenter, open label, randomized, crossover study.

PURPOSE: The clinical benefit of sacral neuromodulation is unclear due to the paucity of randomized trial data. The purpose of this study was to evaluate sacral neuromodulation for management of urinary and fecal incontinence in a pediatric population. MATERIALS AND METHODS: This multicenter, open label, randomized, crossover study included children older than 5 years. After trial stimulation of the S3 root a neuromodulator (InterStim) was implanted on the S3 foramen. Clinical examinations, voiding and bowel diaries, and urodynamic and manometric evaluations were performed at the beginning (t1) and end (t2) of the first period, and at the beginning (t3) and end (t4) of the second period. RESULTS: A total of 33 patients (24 boys) with a mean +/- SD age of 12.22 +/- 5.09 years were randomized. Etiologies were mainly of neurological origin. Incontinence was mixed urinary and fecal in 19 cases, urinary only in 9 and fecal only in 5. Cystometric bladder capacity increased during sacral neuromodulation (delta +24.27 ml vs -37.45 ml, p = 0.01). There was no significant change in other urodynamic or manometric parameters. Overall positive response rate was more than 75% for urinary (81%) and bowel (78%) function. Crossover analysis indicated that sacral neuromodulation is more effective than conservative treatment for both types of incontinence (p = 0.001). CONCLUSIONS: In a pediatric population sacral neuromodulation is effective for bladder and bowel dysfunction and should be considered before irreversible surgery.

[Pyeloplasty for pyelo-ureteric junction syndrome in children: lombo-assisted procedure versus lombotomy]. / Pyéloplastie pour syndrome de la jonction pyélo-urétérale chez l'enfant : voie lombo-assistée versus lombotomie.

Surgical treatment of pyelo-ureteric junction syndromes was classically at the child's, a pyeloplasty by posterior way or by lombotomy. For several years, assisted video techniques are proposed for this gesture. The purpose of our study was to compare the lombo-assisted pyeloplasty procedure with the lombotomy procedure, within the framework of this coverage. We made a retrospective study of procedures performed from January 2000 to December 2005, based on a file review of children operated for pyelo-ureteric junction syndrome. Children under the age of 2 years were excluded. Fifty-two children were divided in 2 groups: group 1: 24 children, 7 girls and 17 boys, average age of 86 months (extremes: 27-172) benefited from a lombo-assisted pyeloplasty. Group 2: 28 children, 12 girls and 16 boys, average age of 69 months (extremes: 24-129) benefited from a pyeloplasty by lombotomy. Operating times were significantly shorter in opened surgery than with the lombo-assisted procedure. There was no significant difference in terms of per- or post-operating complication, use of analgesic and hospitalization duration. On the other hand, the lombo-assisted procedure provided the same undisputable aesthetic benefit and the same muscular preservation than pure lomboscopy procedure. As a consequence, this procedure could be set up at no risk for the patient, even if it had lead to longer operating times. However, operating times stayed shorter than with the pure lomboscopy or the celioscopy procedures, compared to the literature.

[Repair of hypospadias: the effect of urethral plate configuration on the outcome of Duplay-Snodgrass repair]. / Cure d'hypospadias. La forme de la plaque urétrale a-t-elle une influence sur le résultat de l'intervention de Duplay-Snodgrass?

OBJECTIVES: A number of factors potentially influence the outcome of hypospadias surgery. We evaluate the effect of catheter-size used during urethroplasty (a detail related to the depth of the urethral groove and width/elasticity of the urethral plate) on the complication rate following Duplay-Snodgrass repair. METHODS: The data of 113 patients undergoing primary hypospadias repair was retrospectively reviewed. Patients were divided into two groups based on the urethral plate width evaluated by the catheter-size used during urethral reconstruction, and the rate of complications was compared in the two groups. Other factors evaluated included age of patients and severity of the defect. RESULTS: Complications (urethro-cutaneous fistula and meatal stenosis) were more common in the narrow urethral plate 8F catheter group (three fistulae among 18 patients) compared to the wide urethral plate 10F catheter group (six fistulae and one meatal stenosis in 95 patients) (p=0.08). CONCLUSION: The width of the urethral plate during a modified Duplay urethroplasty has a significant impact on outcome. A smaller-sized catheter for neo-urethral reconstruction, implying a shallow urethral groove and a narrow or inelastic urethral plate, is associated with a higher rate of urethrocutaneous fistula and meatal stenosis.

Classification of modified starches by fourier transform infrared spectroscopy using support vector machines.

The aim of this study was to compare the performance of different supervised discrimination methods based on IR data for the classification of starches according to the type of chemical modification undergone. The goal of the supervised classification methods is to develop classification rules. Representative samples of each group (known beforehand) were available, from which the relevant characteristics (chemical modification) were known. On the basis of a training data set, classification rules are determined, which can then be applied to classify new (unknown) samples.

[Cow's milk protein allergy after neonatal intestinal surgery]. / Allergie aux protéines du lait de vache après chirurgie digestive néonatale.

UNLABELLED: Cases of cow's milk protein allergy have been occasionally reported after neonatal intestinal surgery. AIM OF THE STUDY: To measure the prevalence of cow's milk protein allergy (CMPA) following neonatal intestinal surgery. PATIENTS AND METHODS: The files of all children who underwent intestinal surgery in the neonatal period over a four-year-period were reviewed. The diagnosis of CMPA was made on the association of one or several symptoms suggesting food allergy after the introduction of cow's milk protein in the diet, the disappearance of the symptoms after exclusion of cow's milk protein from the diet and their reappearance after reintroduction of cow's milk protein. RESULTS: During the study period, 251 neonates underwent an intestinal surgery. Among them, 11 babies (4.3%) developed CMPA. None of them had a medical history of family atopy. Moreover, while 5 children were fed with a diet containing cow's milk protein before surgery: none of them presented initially with symptoms suggesting CMPA before intestinal surgery. Small intestine suffering was observed during operation in seven of 11 patients. No specific neonatal digestive disease or malformation was associated with CMPA. The signs revealing CMPA were primarily digestive : diarrhoea (N =3), vomiting (N =4), abdominal distension (N =2), colic or anorexia (N =2). Casein specific immunoglobulin E were present in nine of ten cases, alpha lactalbumin and/or beta lactoglobulin specific immunoglobulin E were present in six of ten cases. Prick test were performed in three children and were positive. CONCLUSION: The high prevalence of CMPA among these patients with no risk factors of allergy raises the question of the role of neonatal intestinal surgery in developing food allergy. These data should be confirmed by prospective case-control studies. They underline the interest to evoke the diagnosis of CMPA when digestive symptoms occur after milk protein introduction in children undergoing neonatal intestinal surgery. Breast feeding or milk protein hydrolysate formula should be used for refeeding these patients.