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Developmental Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James H. Tonsgard, Nikolas Mata-Machado
The causes of schizencephaly are heterogeneous. Both genetic and nongenetic causes are postulated. There are some cases associated with chromosomal aneuploidy, single gene defects, and distinct syndromes, so it is likely that there is more than one genetic cause. The EMX2 gene was initially implicated, but more recent studies do not support that. Currently, another gene, LHX2, a gene expressed in the forebrain, has been suggested, as well as the genes HESX1 and SOX2. Pathology shows a deep cleft, either unilateral or bilateral, extending the full thickness of the brain. The walls of the cleft are usually widely separated, and the clefts are commonly in the perisylvian area. The cortex lining the clefts is polymicrogyric.
Fibroid and Infertility
Published in Rooma Sinha, Arnold P. Advincula, Kurian Joseph, FIBROID UTERUS Surgical Challenges in Minimal Access Surgery, 2020
Aarti Deenadayal Tolani, Kadambari, Hema Desai, Suhasini Donthi, Mamata Deenadayal
HOXA10 (homeobox protein) gene expression is important in influencing the endometrial receptivity by altering target genes such as integrin beta 3 and EMX2. HOXA10 gene expression is reduced in submucous myomas not only on the overlaying endometrium but throughout the endometrial cavity [3].
Embryology of the Female Urogenital System and Clinical Applications
Published in Linda Cardozo, Staskin David, Textbook of Female Urology and Urogynecology - Two-Volume Set, 2017
trAnscription fActors PAx2, PAx8, Lim1, emx2, HoxA13, And DAch1 plAy A mAjor role in MülleriAn development. In Lim1null mice, ovAriAn development still occurs but the femAle neonAtes lAck uteri And fAllopiAn tubes [13]. other signAling molecules Are postulAted to be required for normAl MülleriAn development such As Wnt9b And Wnt4, which Act viA A pArAcrine mechAnism [14] And retinoic Acid [15]. Despite these findings in murine models, A study of 25 women Affected by the MAyer–rokitAnsky–Kuster–HAuser syndrome, chArActerized by vArying degrees of uterine duplicAtion or Agenesis And renAl findings, fAiled to support the role of Wnt4 And the retinoic Acid receptor pAthwAys [16]. These discrepAncies between experimentAl And clinicAl observAtions Are not surprising, becAuse the genetic deletion in the mouse often tArgets the first step in A long complex cAscAde, whereAs clinicAl syndromes mAy hAve defects much fArther Along in the sAme pAthwAys. by week 6, the MülleriAn ducts form from the intermediAte mesoderm locAted lAterAlly to the WolffiAn ducts And develop Along the Anterior–posterior Axis of the embryo. LineAge trAcing experiments in chicks And mice reveAl thAt these ducts Are All derived from different populAtions of coelomic epithelium without Any direct cellulAr contribution from the AdjAcent WolffiAn ducts [17]. Although cells derived from the WolffiAn duct do not contribute to the MülleriAn duct, cell–cell signAling between these ducts mediAted by Wnt9b And Wnt4 induces MülleriAn development. Indeed, close contAct with the WolffiAn duct is necessAry for MülleriAn duct elongAtion [18]. The MülleriAn ducts begin As solid cords thAt likely tubulArize on the bAsis of Apoptosis during their differentiAtion. ProximAl pArts of these ducts form the fAllopiAn tubes; distAlly, they fuse in the midline producing the uterus, cervix, And proximAl two-thirds of the vAginA [19]. by week 7, the cAudAl ends of the MülleriAn ducts migrAte through the urorectAl septum to penetrAte the posterior Aspect of the urethrA [20] At the MülleriAn tubercle between the two openings of the WolffiAn ducts (Figure 22.5A) [19]. The urethrA And MülleriAn structures
Pharmacotherapeutic options for the treatment of menopausal symptoms
Published in Expert Opinion on Pharmacotherapy, 2021
Andrea R. Genazzani, Patrizia Monteleone, Andrea Giannini, Tommaso Simoncini
In vitro studies have observed a reduced *** [133]expression of genes involved in the estrogen-induced proliferation of MCF-7 cells with exposure to the BZA/CE combination [124]. As already stated, BZA increases ERα protein degradation [124]. Finally, it inhibits CE-induced MCF-7 breast tumor cell proliferation more effectively than other SERMs [134]. In animal models, BZA was shown to reduce ERα and ER-regulated gene expression in mammary tissue [135]. When cultured endometrial cells are exposed to BZA/CE, they preserve antiproliferative PR expression and show an altered expression of estrogen-responsive genes HOX10A and EMX2, essential factors involved in proliferation and differentiation [136]. Moreover, in animal studies, BZA was shown to inhibit CE-induced luciferase activity, an indicator of proliferation [137],, and reduce the expression of ERα and ERα target genes in endometrial tissue [138]. In a randomized controlled trial subjects treated with BZA 20 mg/CE 0.45 or 0.625 mg/BZA 20 mg had high rates of cumulative amenorrhea over 13 consecutive 4-week cycles and low incidences of endometrial hyperplasia at 12 months, similarly to those treated with placebo [139].