The Experts below are selected from a list of 360 Experts worldwide ranked by ideXlab platform
Shane R Tubbs - One of the best experts on this subject based on the ideXlab platform.
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Caudal Regression Syndrome and a pelvic kidney case report
Anatomy & Cell Biology, 2020Co-Authors: Dany Hage, Joe Iwanaga, Aaron S Dumont, Shane R TubbsAbstract:Caudal Regression Syndrome (CRS) is a rare congenital variation. A high incidence of renal and genitourinary malformations has been observed in patients with CRS, with the most common being neurogenic bladder and renal agenesis. We report a rare case report documenting both CRS and a pelvic kidney found during a diagnostic magnetic resonance imaging. Although renal anatomy variants are found in patients with CRS, a pelvic kidney is normally not part of the constellation of findings in this malformation. As seen in our patient, a pelvic kidney should be considered in patients suspected of having CRS.
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Caudal Regression Syndrome a review focusing on genetic associations
World Neurosurgery, 2020Co-Authors: Tyler Warner, Joe Iwanaga, Aaron S Dumont, Tyler Scullen, Marios Loukas, Cuong J Bui, Shane R TubbsAbstract:Caudal Regression Syndrome (CRS) represents a spectrum of clinical phenotypes with varying degrees of malformation of the lower body with involvement of structures deriving from all 3 layers of the trilaminar embryo. We review areas of active investigation in the diagnosis, etiology, epidemiology, and treatment of the disease with a focus on underlying genetics. CRS pathobiology is complex and multifactorial with a significant contribution from environmental factors as evidenced in twin studies. Contemporary genomic and genetic investigations in both human primary tissue and murine in vitro and in vivo models implicate various genes associated with Caudal differentiation and neural cell migration in embryogenesis. A large number of identified targets center around the metabolic regulation of retinoic acid and its derivatives. Dysregulation of retinoic acid homeostasis has been associated with abnormal embryonic cell migration, differentiation, and organogenesis with resulting malformations and agenesis in both a laboratory and a clinical setting. There appears to be a significant overlap in potential genetic targets with CRS and other developmental Syndromes with similar presentations, such as VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) association. CRS represents a spectrum of Caudal developmental abnormalities with treatment options limited to mild and moderate expressions of disease. Continued research is necessary to further clarify mechanisms of disease pathobiology and complex polygenetic and environmental interaction. Despite this, progress has been made in identifying genetic targets and downstream effectors contributing to preclinical and clinical progression.
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chiari i malformation Caudal Regression Syndrome and pierre robin Syndrome a previously unreported combination
Childs Nervous System, 2006Co-Authors: Shane R Tubbs, Jerry W OakesAbstract:Case The authors report a child born with a constellation of findings including Chiari I malformation, Pierre Robin Syndrome, and Caudal Regression Syndrome. In addition, this child was found to have a fatty-infiltrated filum terminale and a low conus medullaris. Discussion and conclusion In isolation, the Chiari I malformation has been reported in patients with Caudal Regression and Pierre Robin Syndrome. Speculation has been given to the possibility of a common insult to early mesodermal development and each of these pathological entities. To our knowledge, this is the first report of a single patient that possessed all three entities (i.e., Chiari I malformation, Pierre Robin Syndrome, and Caudal Regression Syndrome). Further case reports as this may shed light on the dysembryology that results in each of these diagnoses.
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chiari i malformation and Caudal Regression Syndrome a previously unreported association
Clinical Dysmorphology, 2003Co-Authors: Shane R Tubbs, Matthew D Smyth, Jerry W OakesAbstract:A 13-year-old female is reported with Chiari I malformation and Caudal Regression Syndrome, a previously unreported combination.
Jolanta E Pitera - One of the best experts on this subject based on the ideXlab platform.
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embryonic gut anomalies in a mouse model of retinoic acid induced Caudal Regression Syndrome delayed gut looping rudimentary cecum and anorectal anomalies
American Journal of Pathology, 2001Co-Authors: Jolanta E Pitera, V V Smith, Adrian S Woolf, P J MillaAbstract:Vitamin A and its derivatives such as retinoic acid (RA) are important signaling molecules for morphogenesis of vertebrate embryos. Little is known, however, about morphogenetic factors controlling the development of the gastrointestinal tract and RA is likely to be involved. In the mouse, teratogenic doses of RA cause truncation of the embryonic Caudal body axis that parallel the Caudal Regression Syndrome as described in humans. These changes are often associated with anomalies of the lower digestive tract. Overlapping spatiotemporal expression of retinoic acid receptor-β (RARβ) and cellular retinol-binding protein I, CRBPI, with Hoxb5 and c-ret in the gut mesoderm imply possible cooperation required for proper neuromuscular development. To determine susceptibility and responsiveness of the developing gut and its neuromusculature to exogenous retinoids we used a mouse model of RA-induced Caudal Regression Syndrome. The results showed that stage-specific RA treatment both in vivo and in vitro affected gut looping/rotation morphogenesis and growth of asymmetrical structures such as the cecum together with delayed differentiation of the gut mesoderm and colonization of the postcecal gut by neural crest-derived enteric neuronal precursors. These observations demonstrate that RA has a direct effect on gut morphogenesis and innervation.
R Padmanabhan - One of the best experts on this subject based on the ideXlab platform.
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retinoic acid induced Caudal Regression Syndrome in the mouse fetus
Reproductive Toxicology, 1998Co-Authors: R PadmanabhanAbstract:Abstract Caudal Regression Syndrome (CRS) comprises developmental anomalies of the Caudal vertebrae, neural tube, urogenital and digestive organs, and hind limbs, the precursors of all of which are derived from the Caudal eminence. Although the Syndrome is well recognized, the etiology and pathogenetic mechanisms are poorly understood. Genetic and experimental models may provide some important clues to the early events that precede the dysmorphogenesis in CRS. The objectives of this study were to determine the susceptible stages for induction of CRS and to ascertain the early events that precede the development of this Syndrome in a mouse model. Single oral doses of 100,150, or 200 mg/kg retinoic acid (RA) were administered to TO mice on one of Gestation Days (GD) 8 to 12, and fetuses were observed on GD 18. All doses administered on GD 8 or 9 resulted in CRS in a large number of survivors. Agenesis of the tail, Caudal vertebral defects, spina bifida occulta/aperta, imperforate anus, rectovesicle or rectourethral fistula, renal malformations, cryptorchidism, gastroschisis, and limb malformations, including the classical mermaid Syndrome (sirenomelia), were characteristic features of this animal model. Several craniofacial malformations accompanied CRS in the GD 8 treatment group. Chronologic examination of treated embryos at early stages revealed pronounced cell death in the Caudal median axis, hindgut, and neural tube and consequently, failure of development of the tail bud in the high-dose groups. In the 100 mg/kg RA group, patches of hemorrhage occurred initially that subsequently coalesced into large hematomas and the tail progressively regressed. Histologie examination revealed the onset and progression of hemorrhage, edema, and cell death in these embryos. Transillumination and histologic preparations also revealed dilation of the Caudal neural tube in the prospective CRS embryos. Thus, a combination of cell death, vascular disruption, and tissue deficiency appears to be the highlight of Caudal Regression in this model. Symmelia appeared to be due to failure of fission or due to the merger of limb fields rather than a result of fusion of two limb buds. The data are also indicative of Caudal agenesis in the high-dose RA groups and Caudal Regression due to a combination of vascular disruption, edema, and cell death in the lower dose groups of TO mouse embryos.
Yavuz Ceylan - One of the best experts on this subject based on the ideXlab platform.
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prenatal diagnosis of vacterl Syndrome and partial Caudal Regression Syndrome a previously unreported association
Journal of Clinical Ultrasound, 2009Co-Authors: Ali Gedikbasi, Kanay Yararbas, Gokhan Yildirim, Dogukan Yildirim, Oguz Arslan, Ahmet Gul, Yavuz CeylanAbstract:We describe a case of VACTERL Syndrome associated with type 1 unilateral Caudal Regression Syndrome. The abnormal sonographic findings at 26 weeks included hemivertebrae, scoliosis, hypoplastic and deformed lumbar spine and sacrum, preaxial polydactyly on the left hand, duplicated hallux on the left foot and hemihypoplasia of the left lower limb, bilateral club foot, and single umbilical artery. Postmortem examination confirmed prenatal sonographic findings with additional findings of supernumerary rib at the lumbar level and anal atresia.
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prenatal diagnosis of Caudal Regression Syndrome a case report
BMC Pregnancy and Childbirth, 2001Co-Authors: Halil Aslan, Gokhan Yildirim, Halil Yanik, Nurgul Celikaslan, Yavuz CeylanAbstract:Background Caudal Regression is a rare Syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors.
P J Milla - One of the best experts on this subject based on the ideXlab platform.
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embryonic gut anomalies in a mouse model of retinoic acid induced Caudal Regression Syndrome delayed gut looping rudimentary cecum and anorectal anomalies
American Journal of Pathology, 2001Co-Authors: Jolanta E Pitera, V V Smith, Adrian S Woolf, P J MillaAbstract:Vitamin A and its derivatives such as retinoic acid (RA) are important signaling molecules for morphogenesis of vertebrate embryos. Little is known, however, about morphogenetic factors controlling the development of the gastrointestinal tract and RA is likely to be involved. In the mouse, teratogenic doses of RA cause truncation of the embryonic Caudal body axis that parallel the Caudal Regression Syndrome as described in humans. These changes are often associated with anomalies of the lower digestive tract. Overlapping spatiotemporal expression of retinoic acid receptor-β (RARβ) and cellular retinol-binding protein I, CRBPI, with Hoxb5 and c-ret in the gut mesoderm imply possible cooperation required for proper neuromuscular development. To determine susceptibility and responsiveness of the developing gut and its neuromusculature to exogenous retinoids we used a mouse model of RA-induced Caudal Regression Syndrome. The results showed that stage-specific RA treatment both in vivo and in vitro affected gut looping/rotation morphogenesis and growth of asymmetrical structures such as the cecum together with delayed differentiation of the gut mesoderm and colonization of the postcecal gut by neural crest-derived enteric neuronal precursors. These observations demonstrate that RA has a direct effect on gut morphogenesis and innervation.