Sex differences in DNA methylation across gestation: a large scale, cross-cohort, multi-tissue analysis
Cell Mol Life Sci. 2024 Apr 10;81(1):177. doi: 10.1007/s00018-024-05208-0.ABSTRACTBiological sex is a key variable influencing many physiological systems. Disease prevalence as well as treatment success can be modified by sex. Differences emerge already early in life and include pregnancy complications and adverse birth outcomes. The placenta is a critical organ for fetal development and shows sex-based differences in the expression of hormones and cytokines. Epigenetic regulation, such as DNA methylation (DNAm), may underlie the previously reported placental sexual dimorphism. We associated placental DNAm with fetal sex i...
Source: Cellular and Molecular Life Sciences : CMLS - April 10, 2024 Category: Cytology Authors: Darina Czamara Linda Dieckmann Marius Lahti-Pulkkinen Cristiana Cruceanu Wolfgang Henrich Andreas Plagemann Katri R äikkönen Thorsten Braun Elisabeth B Binder Jari Lahti Sonja Entringer Source Type: research
Ultrasound features of a bilineal inheritance of autosomal dominant polycystic kidney disease
We report a case of a nulliparous woman referred to our clinic at 29 weeks of gestation because of the finding of fetal increased hyperechoic kidneys. The partner was affected by ADPKD with a familiar history of the same disease (his grandfather, brother and father, who underwent kidney transplantation at 40 years of age). The first-trimester aneuploidies combin ed screening showed a high risk for trisomy 21 while the chorionic villus sampling detected a normal female karyotype. (Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology)
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - March 19, 2024 Category: OBGYN Authors: Elisa Montaguti, Francesca Montanari, Vito Bernardi, Elena Luppi, Pierandrea De Benedetti, Giulia Lanzoni, Marco Seri, Gianluigi Pilu Tags: Correspondance Source Type: research
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China
CONCLUSION: The study's patients all presented with classic symptoms of MPS VII due to β-glucuronidase deficiency, with three new pathogenic mutations identified in the GUSB gene. Genetic counseling and prenatal testing were highlighted as crucial for disease prevention.PMID:38442846 | DOI:10.1016/j.ejmg.2024.104933 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - March 5, 2024 Category: Genetics & Stem Cells Authors: Xueying Su Xiaoyuan Zhao Xi Yin Li Liu Yonglan Huang Chunhua Zeng Xiuzhen Li Wen Zhang Source Type: research
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China
CONCLUSION: The study's patients all presented with classic symptoms of MPS VII due to β-glucuronidase deficiency, with three new pathogenic mutations identified in the GUSB gene. Genetic counseling and prenatal testing were highlighted as crucial for disease prevention.PMID:38442846 | DOI:10.1016/j.ejmg.2024.104933 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - March 5, 2024 Category: Genetics & Stem Cells Authors: Xueying Su Xiaoyuan Zhao Xi Yin Li Liu Yonglan Huang Chunhua Zeng Xiuzhen Li Wen Zhang Source Type: research
In-utero fetal resuscitation during fetal blood transfusion for severe fetal erythroblastosis developed after chorionic villus sampling
Ultrasound Obstet Gynecol. 2024 Feb 21. doi: 10.1002/uog.27621. Online ahead of print.NO ABSTRACTPMID:38379499 | DOI:10.1002/uog.27621 (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - February 21, 2024 Category: Radiology Authors: R Ruano C Huber S A Shazly K J Moise Source Type: research
In-utero fetal resuscitation during fetal blood transfusion for severe fetal erythroblastosis developed after chorionic villus sampling
Ultrasound Obstet Gynecol. 2024 Feb 21. doi: 10.1002/uog.27621. Online ahead of print.NO ABSTRACTPMID:38379499 | DOI:10.1002/uog.27621 (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - February 21, 2024 Category: Radiology Authors: R Ruano C Huber S A Shazly K J Moise Source Type: research
In-utero fetal resuscitation during fetal blood transfusion for severe fetal erythroblastosis developed after chorionic villus sampling
Ultrasound Obstet Gynecol. 2024 Feb 21. doi: 10.1002/uog.27621. Online ahead of print.NO ABSTRACTPMID:38379499 | DOI:10.1002/uog.27621 (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - February 21, 2024 Category: Radiology Authors: R Ruano C Huber S A Shazly K J Moise Source Type: research
In-utero fetal resuscitation during fetal blood transfusion for severe fetal erythroblastosis developed after chorionic villus sampling
Ultrasound Obstet Gynecol. 2024 Feb 21. doi: 10.1002/uog.27621. Online ahead of print.NO ABSTRACTPMID:38379499 | DOI:10.1002/uog.27621 (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - February 21, 2024 Category: Radiology Authors: R Ruano C Huber S A Shazly K J Moise Source Type: research
In-utero fetal resuscitation during fetal blood transfusion for severe fetal erythroblastosis developed after chorionic villus sampling
Ultrasound Obstet Gynecol. 2024 Feb 21. doi: 10.1002/uog.27621. Online ahead of print.NO ABSTRACTPMID:38379499 | DOI:10.1002/uog.27621 (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - February 21, 2024 Category: Radiology Authors: R Ruano C Huber S A Shazly K J Moise Source Type: research
In-utero fetal resuscitation during fetal blood transfusion for severe fetal erythroblastosis developed after chorionic villus sampling
Ultrasound Obstet Gynecol. 2024 Feb 21. doi: 10.1002/uog.27621. Online ahead of print.NO ABSTRACTPMID:38379499 | DOI:10.1002/uog.27621 (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - February 21, 2024 Category: Radiology Authors: R Ruano C Huber S A Shazly K J Moise Source Type: research
Counseling in fetal medicine: Congenital cytomegalovirus infection
Eur J Obstet Gynecol Reprod Biol. 2024 Feb 1;295:8-17. doi: 10.1016/j.ejogrb.2024.01.037. Online ahead of print.ABSTRACTAlthough the clinical work-up of CMV in pregnancy has gradually become more accurate, counseling for CMV is still challenging. Despite the potential feasibility of universal prenatal serological screening, its introduction in prenatal diagnosis continues to raise concerns related to its real cost-effectiveness. Contextually, anticipating the confirmation of fetal infection earlier in pregnancy is one of the most pressing issues to reduce the parental psychological burden. Amniocentesis is still the gold s...
Source: Reproductive Biology - February 4, 2024 Category: Reproduction Medicine Authors: Elena D'Alberti Giuseppe Rizzo Asma Khalil Ilenia Mappa Maria Elena Pietrolucci Giulia Capannolo Sara Alameddine Sara Sorrenti Fabrizio Zullo Antonella Giancotti Daniele Di Mascio Francesco D'Antonio Source Type: research
Molecular Heterogeneity of Osteopetrosis in India: Report of 17 Novel Variants
AbstractOsteopetrosis is a clinically and genetically heterogeneous group of inherited bone disorders that is caused by defects in osteoclast formation or function. Treatment options vary with the disease severity and an accurate molecular diagnosis helps in prognostication and treatment decisions. We investigated the genetic causes of osteopetrosis in 31 unrelated patients of Indian origin. Screening for the genetic variants was done by Sanger sequencing or next generation sequencing in 48 samples that included 31 samples from index patients, 16 from parents ’ and 1 chorionic villus sample. A total of 30 variants, inclu...
Source: Indian Journal of Hematology and Blood Transfusion - January 12, 2024 Category: Hematology Source Type: research
Congenital Ichthyosis: Current Approaches to Prenatal Diagnoses
This article reviews prenatal testing for ichthyosis.METHODS: We used pubmed.ncbi.nlm.nih.gov to search for 38 types of congenital ichthyosis combined with 17 words related to prenatal testing.RESULTS: Search resulted in 408 publications covering 13 types of ichthyoses and four types of tests.DISCUSSION: Biochemical testing is diagnostic in trichothiodystrophy, but nonspecific in X-linked ichthyosis and Refsum syndrome. Except in X-linked ichthyosis, biochemical testing requires invasive procedures to obtain fetal skin biopsy, amniocytes, or chorionic villus samples. It is superior to histological and cytological examinati...
Source: Fetal and Pediatric Pathology - January 11, 2024 Category: Pathology Authors: Manahel Mahmood Alsabbagh Source Type: research
874 How common are fetal genetic abnormalities in “low-risk” patients undergoing genetic testing?
While amniocentesis and chorionic villus sampling (CVS) are typically performed in those with risk factors, they should be offered to all patients. Our aim was to evaluate the rate of chromosomal abnormalities or copy number variants (CNVs) in patients at low risk who chose to undergo diagnostic testing. (Source: American Journal of Obstetrics and Gynecology)
Source: American Journal of Obstetrics and Gynecology - January 1, 2024 Category: OBGYN Authors: Sarah J. Weingarten, Brittany Roser, Luiza Perez, Sarah Heaps, Rana K. Fowlkes, Stephen T. Chasen Source Type: research
Impact of Early Diagnostic and Therapeutic Interventions and Clinical
Course in Children and Adolescents with Multiple Endocrine Neoplasia Types 1 and
2
Conclusion This study described the relatively long clinical course of
pediatric MEN with a mean follow-up duration of 7.5±3.8 years.
Insulinoma was the first manifestation in children with MEN1. Early diagnosis by
family screening during the asymptomatic period enabled early intervention. The
patient with MEN2B exhibited the most aggressive clinical course. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Experimental and Clinical Endocrinology and Diabetes)
Source: Experimental and Clinical Endocrinology and Diabetes - December 22, 2023 Category: Endocrinology Authors: Kim, Ja Hye Lee, Yena Hwang, Soojin Yoon, Ji-Hee Kim, Gu-Hwan Yoo, Han-Wook Choi, Jin-Ho Tags: Article Source Type: research
