A clinical and molecular project on gonadoblastoma needs international collaboration

<p>No abstract available.</p

COVID-19 lockdown related to decrease in premature birth rate and increase in birth weight in metropolitan France

IntroductionThe worldwide rate of preterm birth (PTB) has been increasing over the last two decades. COVID-19 lockdowns provide a unique opportunity to assess the effects of socioenvironmental and lifestyle factors on premature birth and birth weight. We explored the effects of COVID-19 lockdowns on the PTB rate and birth weight at a nationwide scale in France until one year after their occurrence.Material and MethodsThis national retrospective observational study evaluated the rate of PTB and birth weight in France from January 2016 to December 2020. Data were obtained from the national Programme Médicalisé des Systèmes d'Information database. The rates of global and sub-categories of PTB were tested. The birth weight was studied before and after lockdown for all live births, for term and premature neonates, and for each category of low birth weight (LBW) by a stratified analysis.ResultsData from 2,949,372 births from January 2016 to December 2019, including 228,857 PTB, were compared to those of 699,344 births and 51,886 PTB from January to December 2020. The national rate of PTB decreased significantly from 7.7% to 7.3%, when compared with the 2016–2019 period. This decrease was persistent up to 9 months later. It was observed only for moderate PTB, whereas very PTB and extremely PTB remained stable. The national mean birth weight for full-term babies increased after the lockdown and was still observable up to 8 months later (+0.16%, p &lt; 0.0001). The proportion of children with LBW also decreased 2 months after lockdown (−0.15%; p = 0.02). For VLBW, the difference only appeared over the 6-month post-lockdown period (−0.06%; p = 0.006).ConclusionThis nationwide study shows a significant reduction in prematurity and a significant increase in birth weight in France after the lockdown for a period of time not limited to the lockdown itself. A more in-depth study of the factors determining these variations may help to drive PTB prevention policies

Is hypospadias a genetic, endocrine or environmental disease, or still an unexplained malformation?

Q1Artículo de revisión187-197Hypospadias is one of the most frequent genital malformations in the male newborn and results from an abnormal penile and urethral development. This process requires a correct genetic programme, time- and space-adapted cellular differentiation, complex tissue interactions, and hormonal mediation through enzymatic activities and hormonal transduction signals. Any disturbance in these regulations may induce a defect in the virilization of the external genitalia and hypospadias. This malformation thus appears to be at the crossroads of various mechanisms implicating genetic and environmental factors. The genes of penile development (HOX, FGF, Shh) and testicular determination (WT1, SRY) and those regulating the synthesis [luteinizing hormone (LH) receptor] and action of androgen (5a reductase, androgen receptor) can cause hypospadias if altered. Several chromosomal abnormalities and malformative syndromes include hypospadias, from anterior to penoscrotal forms. More recently, CXorf6 and ATF3 have been reported to be involved. Besides these genomic and hormonal factors, multiple substances found in the environment can also potentially interfere with male genital development because of their similarity to hormones. The proportion of hypospadias cases for which an aetiology is detected varies with the authors but it nevertheless remains low, especially for less severe cases. An interaction between genetic background and environment is likely

How to more effectively determine what is true: The limits of intuition

The plethora of scientific data and explosion of published materials often leave it challenging to develop a clear and concise overview of many scientific topics. A number of factors may contribute to our misunderstanding. It is the focus of this article to describe primary reasons for failure to establish a clear, factual and functional understanding regarding scientific areas of inquiry

Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations

More than 50% of children with severe 46,XY disorders of sex development (DSD) do not have a definitive etiological diagnosis. Besides gonadal dysgenesis, defects in androgen biosynthesis, and abnormalities in androgen sensitivity, the Mastermind-like domain containing 1 (MAMLD1) gene, which was identified as critical for the development of male genitalia, may be implicated. The present study investigated whether MAMLD1 is implicated in cases of severe 46,XY DSD and whether routine sequencing of MAMLD1 should be performed in these patients

The changing face of pediatric urology: Blurring the lines

International audienceNo abstract availabl

Vidéo-chirurgie en période néonatale (l'expérience du service de chirurgie viscérale pédiatrique du C.H.U. de Montpellier)

MONTPELLIER-BU Médecine UPM (341722108) / SudocPARIS-BIUM (751062103) / SudocMONTPELLIER-BU Médecine (341722104) / SudocSudocFranceF

Advantages of robot-assisted surgery in anorectal malformations: Report of a case

Laparoscopy has been widely used to repair anorectal malformations (ARMs) by paediatric surgeons in an attempt to be less invasive, offer better cosmetic results, enable a faster return of bowel function, decrease length of hospital stay and pain, and lately to improve functional results. Robotic technology assists the paediatric surgeon by increasing dexterity and precision of movement with a robotic wrist-like mechanism that allows up to 90° of articulation and 7° of freedom. This is important in ARM surgery, where the dissection of the fistula and the pull-through of the rectum into the muscular complex are crucial to achieve continence in future