Nasal bone in prenatal ultrasound and genetic changes with orofacial manifestations

2013 ◽  
pp. 125-128
Keyword(s):  
Nasal Bone ◽  
Prenatal Ultrasound ◽  
Genetic Changes

scholarly journals Nasal bone and trisomy 21: prenatal ultrasound and postmortem morphohistological study

2004 ◽  
Vol 23 (1) ◽  
pp. 96-97 ◽  
Author(s):  
M. A. Rustico ◽  
R. Bussani ◽  
F. Silvestri
Keyword(s):  
Trisomy 21 ◽  
Nasal Bone ◽  
Prenatal Ultrasound

scholarly journals Moderate associated fetal ventriculomegaly: prenatal diagnosis

2020 ◽  
Vol 9 (1) ◽  
pp. 278
Author(s):  
Cristina Crenguta Albu ◽  
Dinu Florin Albu ◽  
Stefan Dimitrie Albu
Keyword(s):  
Prenatal Diagnosis ◽  
Ultrasound Examination ◽  
Third Ventricle ◽  
Nasal Bone ◽  
Prenatal Ultrasound ◽  
Fetal Head ◽  
Agenesis Of Corpus Callosum ◽  
Cavum Septum Pellucidum ◽  
Fetal Ventriculomegaly ◽  
Hypoechoic Mass

Ventriculomegaly (VM) is a descriptive term, indicating the enlargement of the ventricles of the brain. We present the case of a 32-year-old primiparous women, at 18 weeks of pregnancy, who was referred in our clinic for a routine prenatal ultrasound examination. The ultrasound scan highlighted a single malformed fetus with several major abnormalities of the fetal head: hypoplastic nasal bone, agenesis of corpus callosum, choroid plexus hyperplasia, solid hypoechoic mass on the external wall of the left ventricle, no visible cavum septum pellucidum, third ventricle visible, moderately enlarged and VM with evolution to bilateral hydrocephalus. The parents were informed about the major severity of anomalies and decide to terminate the pregnancy. Prenatal ultrasound examination was decisive in the early prenatal diagnosis and optimized management of the malformed fetus with VM.

Prenatal ultrasound diagnosis of Ebstein’s anomaly up to 12 weeks of gestation

2018 ◽  
Author(s):  
N.A. Altynnik
Keyword(s):  
Pulsatility Index ◽  
Nasal Bone ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Ductus Venosus ◽  
Ebstein’S Anomaly ◽  
Post Mortem ◽  
Ebstein's Anomaly ◽  
Post Mortem Examination ◽  
Unfavourable Prognosis

The case of the first ultrasound diagnosis of Ebstein's anomaly before 12 weeks of gestation is presented. Fetal cardiac abnormalities were combined with hypoplasia of the single nasal bone. In addition, the increase of pulsatility index in the ductus venosus was detected. The pregnancy was terminated because of unfavourable prognosis. Post-mortem examination and karyotype were not done. The literature data on early prenatal ultrasound diagnosis of Ebstein’s anomaly in the first screening were analysed.

89: Prenatal Ultrasound Reduces the Rate of Adult Pyeloplasty

2005 ◽  
Vol 173 (4S) ◽  
pp. 25-25
Author(s):  
Seth A. Capello ◽  
Barry A. Kogan ◽  
Louis J. Giorgi ◽  
Ronald P. Kaufman
Keyword(s):  
Prenatal Ultrasound

Sonographic Evaluation of Nasal Bone Fractures

2000 ◽  
Vol 43 (1) ◽  
pp. 95
Author(s):  
Jung Eun Kim ◽  
Sun Wha Lee ◽  
Jung Kyoung Lee ◽  
Sun Hee Chung
Keyword(s):  
Bone Fractures ◽  
Nasal Bone ◽  
Sonographic Evaluation

Morphological Characteristics of the Stroma in Malignat Epithelial Neoplasms with Short Review of Skin Squamous Cell Carcinoma

2014 ◽  
Vol 68 (1) ◽  
pp. 8-15
Author(s):  
Lena Kakasheva-Mazhenkovska ◽  
Vesna Janevska ◽  
Gordana Petrushevska ◽  
Liljana Spasevska ◽  
Neli Basheska
Keyword(s):  
Immune Cells ◽  
Complex Structure ◽  
Tumor Development ◽  
Morphological Characteristics ◽  
Basal Membrane ◽  
Short Review ◽  
Invasion And Metastasis ◽  
Genetic Changes ◽  
Cancer Associated Fibroblast ◽  
Skin Squamous Cell Carcinoma

Abstract The stroma of the neoplasm is a highly complex structure built by: specialized mesenchymal cells typical for each tissue surroundings, cancer associated fibroblast/myofibroblast, congenital or acquired immune cells, vascular network with endothelial cells and pericytes, mastocytes, macrophages, leukocytes and adipocytes, all together incorporated in the extracellular matrix. Each neoplasm produces its own unique microenvironment where the tumor grows and modifies. Although most of the cells of the host in the stroma have compulsory tumor suppressor ability, the stroma is changing during the malignant process and it even promotes growth, invasion and metastasis. Genetic changes that occur during the development of the cancer, which are guided by the malignant cells lead to changes in the stroma of the host that will overtake it and adjust it to their own needs. In the early stages of the tumor development and invasion, the basal membrane is degraded and the stroma becomes active and contains an increased number of fibroblasts, inflammatory infiltrate and newly composed capillaries which come into direct contact with the tumor cells. These changes lead to cancer invasion.

Молекулярная биология менингиом головного мозга

2017 ◽  
pp. 82-91
Author(s):  
В.А. Бывальцев ◽  
И.А. Степанов ◽  
Е.Г. Белых ◽  
А.И. Яруллина
Keyword(s):  
Gene Therapy ◽  
Proton Therapy ◽  
Genetic Factors ◽  
Intracranial Tumor ◽  
Molecular Profile ◽  
Genetic Changes ◽  
Treatment Techniques ◽  
Downstream Effects ◽  
Si Rna ◽  
The Relationship

Цель обзора - анализ современных данных литературы о нарушении внутриклеточных сигнальных путей, играющих ведущую роль в развитии менингиом, генетических и молекулярных профилях данной группы опухолей. К настоящему времени изучено множество аберрантных сигнальных внутриклеточных путей, которые играют важнейшую роль в развитии менингиом головного мозга. Четкое понимание поврежденных внутриклеточных каскадов поможет изучить влияние генетических мутаций и их эффектов на менингиомогенез. Подробное исследование генетического и молекулярного профиля менингиом позволит сделать первый уверенный шаг в разработке более эффективных методов лечения данной группы интракраниальных опухолей. Хромосомы 1, 10, 14, 22 и связанные с ними генные мутации ответственны за рост и прогрессию менингиом. Предполагается, что только через понимание данных генетических повреждений будут реализованы новейшие эффективные методы лечения. Будущая терапия будет включать в себя комбинации таргетных молекулярных агентов, в том числе генную терапию, малые интерферирующие РНК, протонную терапию и другие методы воздействия, как результат дальнейшего изучения генетических и биологических изменений, характерных для менингеальных опухолей. Meningiomas are by far the most common tumors arising from the meninges. A myriad of aberrant signaling pathways involved with meningioma tumorigenesis, have been discovered. Understanding these disrupted pathways will aid in deciphering the relationship between various genetic changes and their downstream effects on meningioma pathogenesis. An understanding of the genetic and molecular profile of meningioma would provide a valuable first step towards developing more effective treatments for this intracranial tumor. Chromosomes 1, 10, 14, 22, their associated genes, have been linked to meningioma proliferation and progression. It is presumed that through an understanding of these genetic factors, more educated meningioma treatment techniques can be implemented. Future therapies will include combinations of targeted molecular agents including gene therapy, si-RNA mediation, proton therapy, and other approaches as a result of continued progress in the understanding of genetic and biological changes associated with meningiomas.

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