Amniotic fluid peptides predict postnatal kidney survival in developmental kidney disease.

Although a rare disease, bilateral congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end stage kidney disease in children. Ultrasound-based prenatal prediction of postnatal kidney survival in CAKUT pregnancies is far from accurate. To improve prediction, we conducted a prospective multicenter peptidome analysis of amniotic fluid spanning 140 evaluable fetuses with CAKUT. We identified a signature of 98 endogenous amniotic fluid peptides, mainly composed of fragments from extracellular matrix proteins and from the actin binding protein thymosin-ß4. The peptide signature predicted postnatal kidney outcome with an area under the curve of 0.96 in the holdout validation set of patients with CAKUT with definite endpoint data. Additionally, this peptide signature was validated in a geographically independent sub-cohort of 12 patients (area under the curve 1.00) and displayed high specificity in non-CAKUT pregnancies (82 and 94% in 22 healthy fetuses and in 47 fetuses with congenital cytomegalovirus infection respectively). Change in amniotic fluid thymosin-ß4 abundance was confirmed with ELISA. Knockout of thymosin-ß4 in zebrafish altered proximal and distal tubule pronephros growth suggesting a possible role of thymosin ß4 in fetal kidney development. Thus, recognition of the 98-peptide signature in amniotic fluid during diagnostic workup of prenatally detected fetuses with CAKUT can provide a long-sought evidence base for accurate management of the CAKUT disorder that is currently unavailable.

Ultrasound features of fetal toxoplasmosis: A contemporary multicenter survey in 88 fetuses.

OBJECTIVE: To describe the lesions detected by prenatal ultrasound examination in congenital toxoplasmosis (CT). METHODS: We retrospectively analyzed all cases of fetal infection with Toxoplasma gondii with ultrasound anomalies described by fetal medicine experts in 2009 to 2019 in 30 French centers. RESULTS: Eighty-eight cases of CT were included. Forty-five (51.1%) had one or more cerebral signs only, 35 (39.8%) had cerebral plus extracerebral signs and 8 (9.1%) had extracerebral signs only. The main cerebral signs were intracranial hyperechogenic nodular foci (n = 60) of which 20 were isolated, ventriculomegalies (n = 44) which generally increased during follow-up, and periventricular abscesses (n = 12). The main extracerebral signs were hepatomegaly and/or splenomegaly (n = 14), small for gestational age (n = 14), ascites (n = 14, including 2 with hydrops), and hyperechogenic bowel (n = 11). Maternal infection occurred mostly in the first or second trimester (81 cases), periconceptionally in one and in the third trimester in six cases. The first ultrasound signs were detected after a median of 7 weeks (range: 1.4; 24.0) following maternal toxoplasmosis seroconversion. CONCLUSION: While no sign was specific of CT, there were typical associations of cerebral signs with or without extracerebral signs. Detailed ultrasound examination could improve prognostic evaluation, as well as diagnosis of CT in settings lacking serological screening.

C5orf42 is the major gene responsible for OFD syndrome type VI.

Oral-facial-digital syndrome type VI (OFD VI) is a recessive ciliopathy defined by two diagnostic criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue hamartoma (s) and/or additional frenula and/or upper lip notch; (2) mesoaxial polydactyly of one or more hands or feet; (3) hypothalamic hamartoma. Because of the MTS, OFD VI belongs to the "Joubert syndrome related disorders". Its genetic aetiology remains largely unknown although mutations in the TMEM216 gene, responsible for Joubert (JBS2) and Meckel-Gruber (MKS2) syndromes, have been reported in two OFD VI patients. To explore the molecular cause(s) of OFD VI syndrome, we used an exome sequencing strategy in six unrelated families followed by Sanger sequencing. We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and skeletal dysplasia. C5orf42 mutations have already been reported in Joubert syndrome confirming that OFD VI and JBS are allelic disorders, thus enhancing our knowledge of the complex, highly heterogeneous nature of ciliopathies.

Systematic Review of the Key Factors Influencing the Indoor Airborne Spread of SARS-CoV-2.

The COVID-19 pandemic due to the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) has been plaguing the world since late 2019/early 2020 and has changed the way we function as a society, halting both economic and social activities worldwide. Classrooms, offices, restaurants, public transport, and other enclosed spaces that typically gather large groups of people indoors, and are considered focal points for the spread of the virus. For society to be able to go "back to normal", it is crucial to keep these places open and functioning. An understanding of the transmission modes occurring in these contexts is essential to set up effective infection control strategies. This understanding was made using a systematic review, according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses statement (PRISMA) 2020 guidelines. We analyze the different parameters influencing airborne transmission indoors, the mathematical models proposed to understand it, and discuss how we can act on these parameters. Methods to judge infection risks through the analysis of the indoor air quality are described. Various mitigation measures are listed, and their efficiency, feasibility, and acceptability are ranked by a panel of experts in the field. Thus, effective ventilation procedures controlled by CO2-monitoring, continued mask wearing, and a strategic control of room occupancy, among other measures, are put forth to enable a safe return to these essential places.

Attachment states of mind in late adolescence and the quality and course of romantic relationships in adulthood.

The purpose of this study was to examine the longitudinal relations between attachment state of mind in late adolescence and romantic relationships in adulthood. Participants were drawn from two independent studies that were conducted respectively in 1992 and 1996 and that involved the administration of the Adult Attachment Interview (AAI) to 167 college students. They were followed-up in 2007 (N = 99) to investigate different aspects of their romantic relationships since college. Those who had shown greater preoccupation with attachment in the AAI were more likely to be single in adulthood and to report romantic relationships of shorter length. In addition, they reported lower levels of intimacy, commitment, and passion in their current or recent romantic relationships. Dismissing tendencies were associated with higher levels of perceived passion in romantic relationships. Most of these associations remained significant after controlling for intervening life events, different dimensions of individual adjustment, socio-economic status, as well as probable life events derived from the AAI.

Eyebrow position recognition and correction in reconstructive and cosmetic surgery.

OBJECTIVES: To improve (1) recognition of eyebrow ptosis, asymmetry, or deformity and (2) selection of the appropriate surgical technique based on the patient's underlying etiology. DESIGN: Nonrandomized, retrospective study of patients undergoing surgical correction of eyebrow asymmetry. Forty consecutive patients were identified as having asymmetric eyebrow ptosis or deformity. Varying etiologies included those that were congenital, posttraumatic, age-related, iatrogenic, or idiopathic, with or without facial nerve paralysis. Patients underwent a variety of surgical approaches for correction of the eyebrow malposition, including transblepharoplasty, midforehead, coronal, and endoscopic procedures. Preoperative evaluation of patients, identification of patient-specific appropriate surgical technique, and photographs and grading of postoperative results are discussed. RESULTS: All patients had a minimum follow-up period of at least 4 months (mean, 15 months; range, 4 months to 3 years). Preoperative and postoperative photographs were obtained and graded. Complete symmetry was achieved in 8 patients (20%), considerable improvement in 23 patients (57%), modest improvement in 7 patients (18%), and no improvement in 2 patients (5%). No notable postoperative complications were reported. Recommendations for improving results are included. CONCLUSIONS: The key to correction of eyebrow ptosis in patients undergoing reconstructive and cosmetic surgery is to first recognize the asymmetry. It is also important to note the effect of reconstructive and cosmetic surgical procedures on eyebrow position in order to limit the need to perform additional procedures to correct resultant eyebrow asymmetries and deformities. Finally, the surgeon must consider which eyebrow-lift technique is optimal for the patient's underlying etiology to improve postoperative results and patient satisfaction.