Purpose: There is currently a heightened need for perinatal medical services to timely recognize and accurately meet the psychological needs of pregnant women. Psychological disturbances a mother experiences during pregnancy, such as depression and anxiety, can be later associated with inadequate maternal capacity for antenatal care for herself and the baby, and may lead to subsequent mental health problems later in the mother's life. Routine prenatal assessment could significantly benefit from being proactively enriched with early prevention mental health screening tools to assess, appropriately manage vulnerable populations, and subsequently implement preventive actions.
View Article and Find Full Text PDFObstetrics/gynecology (OB/GYN) clinicians often manage gender dysphoric patients but frequently lack the necessary training. These individuals comprise a vastly heterogeneous group and gender clinics, staffed by multi-disciplinary teams, should become the standard of care, promoting a holistic approach. All OB/GYN clinicians need to be aware of basic aspects of gender dysphoria.
View Article and Find Full Text PDFΙn this study we aim to examine and integrate current literature and research on attachment theory and its expression on the specific field of obstetrics, the perinatal period. In medical settings in general, and in the field of obstetrics in specific, which is the clinical domain of the perinatal period, obstetricians, psychiatrists and psychologists frequently come across antenatal and postnatal concerns, psychological issues as well as psychiatric symptomatology stemming from closer observation of the women's difficulties or reported by women themselves. To our theoretical understanding, in order to better comprehend these psychosocial concerns and deliver timely and more effective personalized interventions to women in need, it is of paramount importance to thoroughly examine the perspective proposed by attachment theory, as it was first developed by child psychiatrist-psychoanalyst John Bowlby and the newest theoretical developments on the field that followed.
View Article and Find Full Text PDFOocyte freezing for 'social reasons' refers to women of reproductive age who are aiming to prolong, protect and secure their fertility. The term emerged to describe application of the highly promising technique, namely vitrification on oocytes retrieved through controlled ovarian stimulation (COS) from women intending to preserve their fertility for social reasons. These women opt to cryopreserve their oocytes at a point in their life when they need to postpone childbearing on the grounds of so called 'social' reasons.
View Article and Find Full Text PDFBackground: Pathogenesis of cerebral aneurysms implicates several risk factors. Three common thrombophilia-predisposing mutations were studied in patients with cerebrovascular aneurysms.
Patients And Methods: A total of 186 Greeks (66 patients with intracranial aneurysm and 120 healthy controls) were studied.
Protein S-100B is an established serum marker of primary and secondary brain damage and stroke. A group of patients after mild head injury (MHI) develop post-concussion symptoms that interfere with the ability in the short-term to return to work or undertake certain activities. The aim of this study was to examine the correlation of serum S-100B with short-term outcome after MHI.
View Article and Find Full Text PDFThe HLXB9 homeobox gene was recently identified as a locus for autosomal dominant Currarino syndrome, also known as hereditary sacral agenesis (HSA). This gene specifies a 403-amino acid protein containing a homeodomain preceded by a very highly conserved 82-amino acid domain of unknown function; the remainder of the protein is not well conserved. Here we report an extensive mutation survey that has identified mutations in the HLXB9 gene in 20 of 21 patients tested with familial Currarino syndrome.
View Article and Find Full Text PDFSacral agenesis is a heterogeneous group of congenital anomalies in which most cases are sporadic but rare familial forms also occur. Although one gene has been mapped to chromosome 7q36 in families with hemisacrum, associated with anorectal atresia and presacral mass, it is clear that the genetic aetiology of these disorders is complex and other genes remain to be discovered. Some years ago, the idea of T (Brachyury) as a candidate gene for sacral agenesis was raised, because tail abnormalities associated with T and the t complex, on mouse chromosome 17, resemble spinal defects seen in man.
View Article and Find Full Text PDFAnn Hum Genet
September 1998
Clues regarding candidate genes which influence susceptibility to spina bifida and anencephaly come from the identification of folate-associated risk factors and from studies of mouse mutants showing neural tube anomalies. On this basis we selected five candidate genes; CBS, MS, MTHFR, T (Brachyury) and BRCA1 for genetic analysis in 31 Dutch and 48 British NTD families. Ten polymorphisms, two for each gene, were used in transmission tests for disequilibrium (TDT).
View Article and Find Full Text PDFTbx6 is a member of the T-box family of proteins, which share a region of homology corresponding to the DNA-binding domain of the transcription factor T. Previous expression studies and knockout experiments in mice indicate that Tbx6 is important for specification of paraxial mesoderm structures. We have isolated and characterized the human orthologue, TBX6.
View Article and Find Full Text PDFT is a transcription factor which activates transcription by binding to repeated arrangements of the dodecamer 5'-AGGTGTGAAATT-3'. Using in vitro synthesised T protein, we have demonstrated that T binds to its target DNA as a homodimer and that truncated protein containing only the N-terminal 233 amino-acid residues, which comprise the DNA-binding domain, can form a dimer. We also report a common human polymorphism, Gly-177-Asp, within the DNA-binding domain at a position which is a conserved glycine residue in T homologues from other vertebrates.
View Article and Find Full Text PDFWe describe a genetic analysis of the human homologue (T) of the mouse T (Brachyury) gene; human T was recently cloned in our laboratory. The protein product of the T gene is a transcription factor crucial in vertebrates for the formation of normal mesoderm. T mutant Brachyury mice die in midgestation with severe defects in posterior mesodermal tissues; heterozygous mice are viable but have posterior axial malformations.
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