Congenital brain tumors are rare, representing <2% of all childhood brain tumors. Of these, ependymoblastoma is a profoundly aggressive embryonal brain tumor that is included in the diagnostic entity known as an embryonal tumor with multilayered rosettes. This report of a congenital ependymoblastoma diagnosed at birth aims to highlight how much remains unknown about embryonal tumor with multilayered rosettes and the devastating prognosis of this condition. Despite recent advancements made in identifying molecular targets for therapy, this tumor continues to have a high rate of recurrence with few successful treatment options, especially when diagnosed in the newborn period.
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http://dx.doi.org/10.1097/MPH.0000000000001117 | DOI Listing |
J Clin Med
December 2024
Department of Cardiology, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
Pregnant women with congenital heart disease carry a high risk of complications, especially when cardiac function is suboptimal. Increasing evidence suggests that impaired right ventricular (RV) function has a negative effect on placental function, possibly through venous congestion. We report a case series of hepatic and renal venous flow patterns in pregnant women with right ventricular dysfunction after repaired Tetralogy of Fallot (ToF), relative to those observed in normal pregnancy and preeclampsia.
View Article and Find Full Text PDFNutrients
December 2024
Department of Prenatal Cardiology, Polish Mother's Memorial Hospital Research Institute in Lodz, 93-338 Lodz, Poland.
Introduction: The relationship between diet of mothers, including supplementation of vitamin D and Long Chain Polyunsaturated Fatty Acids (LC-PUFA), and the prevalence of congenital heart defects (CHD) in the fetus has not been sufficiently studied. The aim of the study was to investigate the relationship between the intake of vitamin D and LC-PUFA by mother (from diet and with supplementation, including its time of implementation and applied dose), and the risk of CHD in the fetus.
Methods: This was a case-control study with the participation of a total of 79 women with prenatally diagnosed CHD in the fetus and 121 women without CHD in the fetus.
Taiwan J Obstet Gynecol
January 2025
Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Medical Research, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan; Department of Medical Sciences, National Tsing Hua University, Hsinchu, Taiwan. Electronic address:
Objective: Ichthyosis are complex skin diseases, characterized by hyperkeratosis with various degrees of thickening, desquamation, and erythema. The prenatal diagnosis of ichthyosis is challenged due to the clinical and genetic heterogeneity and the late-onset of fetal features on ultrasound scan. Here, we reported two fetuses with Harlequin ichthyosis (HI), a severe subtype of autosomal recessive congenital ichthyosis (ARCI), who were diagnosed prenatally by images and genetic investigations.
View Article and Find Full Text PDFTaiwan J Obstet Gynecol
January 2025
Ultrasound, Chongqing Health Center for Women and Children, Chongqing, China; Ultrasound, Women and Children's Hospital of Chongqing Medical University, Chongqing, China. Electronic address:
Objective: To explore outcomes of fetuses with severe congenital diaphragmatic hernia (CDH) after fetal endoluminal tracheal occlusion (FETO) treatment.
Case Report: Fetuses diagnosed with severe CDH and taken FETO for intrauterine treatment from January 2020 to December 2023 were recruited. There was no significant difference in general conditions, as well as O/E LHR and measurements related to CDH (p > 0.
Taiwan J Obstet Gynecol
January 2025
Gynecology and Obstetrics Clinic "Narodni front", Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Objective: Prenatal detection of complex chromosomal rearrangements (CCR) is extremely rare, but is of great clinical importance, since CCR can be causative of different congenital disorders. We present an exceptionally rare case of prenatally diagnosed Saethre-Chotzen syndrome (SCS) rising as a consequence of chromothripsis involving chromosomes 5, 7 and 11 and deletion of TWIST1 gene.
Case Report: Brachycephaly, hypertelorism, flat face, micrognathia, relative macroglossia and small posterior fossa were noted on ultrasound examination at 28th gestational week.
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