scholarly journals Prenatal Diagnosis and Fetomaternal Outcomes of Two Cases with Placental Chorioangioma

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Burcu Artunc Ulkumen ◽  
Halil Gursoy Pala ◽  
Nalan Nese ◽  
Yesim Baytur
Keyword(s):  
Prenatal Diagnosis ◽  
Relevant Literature ◽  
Placental Tumors

Placental chorioangiomas greater than 4 cm in diameter are rare placental tumors. They have adverse fetomaternal outcomes. We present our experience with two cases having a giant angioma and review the relevant literature.

scholarly journals Prenatal Diagnosis of Congenital High Airway Obstruction Syndrome: Report of Two Cases and Brief Review of the Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Burcu Artunc Ulkumen ◽  
Halil Gursoy Pala ◽  
Nalan Nese ◽  
Serdar Tarhan ◽  
Yesim Baytur
Keyword(s):  
Prenatal Diagnosis ◽  
Airway Obstruction ◽  
Relevant Literature ◽  
Fetal Mri ◽  
Review Of The Literature ◽  
Management Options ◽  
Upper Airways ◽  
Antenatal Ultrasonography ◽  
Syndrome Report

Congenital high airway obstruction syndrome (CHAOS) is the obstruction of the fetal upper airways, which may be partial or complete. It is usually incompatible with life. Prenatal recognition of the disease is quite important due to the recently described management options. We report here two cases of CHAOS due to tracheal atresia diagnosed by antenatal ultrasonography and fetal MRI. We also briefly review the relevant literature with the associated management options.

scholarly journals Prenatal Diagnosis of Isolated Hypospadias by Using “Tulip Sign” with Two and Three-Dimensional Ultrasonography

2016 ◽  
Vol 22 (1) ◽  
Author(s):  
Sebahat Atar Gürel
Keyword(s):  
Prenatal Diagnosis ◽  
Relevant Literature ◽  
Three Dimensional ◽  
Surgical Correction ◽  
Urogenital Tract ◽  
Prenatal Period ◽  
Two Dimensional ◽  
Primigravid Woman ◽  
Additional Anomaly

<p>Hypospadias is an anomaly of the male urogenital tract which occurs as a result of deficient closure of the urethral groove. Hypospadias is the most commonly seen urogenital anomaly in male neonates, but it is rarely diagnosed during prenatal period. Herein, a severe hypospadias case which was diagnosed by using 2D (two-dimensional) and 3D (three-dimensional) ultrasonography at 28 weeks of pregnancy with the aid of “tulip sign” finding was presented. 2D ultrasonography of 29 year old, primigravid woman at 28 weeks of gestation revealed an incurved, short penis with blunt tip located between the two scrotal folds and there was no additional anomaly. Findings were compatible with the “tulip sign” and case was diagnosed as isolated hypospadias. Isolated hypospadias was confirmed after delivery and surgical correction was planned. Prenatal diagnosis of hypospadias and relevant literature has been reviewed.</p>

scholarly journals A Novel USH2A Variant in a Patient with Hearing Loss and Prenatal Diagnosis of a Familial Fetus: a Case Report and Literature Review

2020 ◽  
Author(s):  
Cong Zhou ◽  
Yuanyuan Xiao ◽  
Hanbing Xie ◽  
Shanling Liu ◽  
Jing Wang
Keyword(s):  
Hearing Loss ◽  
Prenatal Diagnosis ◽  
Novel Mutation ◽  
Relevant Literature ◽  
Usher Syndrome ◽  
Genetic Diagnosis ◽  
Screening Strategy ◽  
Chinese Patient ◽  
Gene Panel ◽  
Compound Heterozygous

Abstract Background: Usher syndrome (USH) is the most common cause of inherited deaf-blindness. This study aimed to identify pathogenic mutations in a Chinese patient with hearing loss and reviewed the relevant literature.Methods: Genomic DNA obtained from a five-year-old girl with hearing loss was analyzed via the disease-targeted gene panel. Results: We identified the compound heterozygous mutations c.8559-2A>G and c.4749delT in Usher syndrome type 2A (USH2A) gene as the underlying cause of the familial hearing loss; the former variation has been reported in the literature, but not the latter. The parents of the girl were heterozygous carriers. The two variants were pathogenic. Based on these findings, amniotic fluid samples were used for prenatal diagnosis of the couple's fetus, which was found to carry c.4749delT but not c.8559-2A>G variation. During the follow-up period of more than 9 months after the birth of the fetus, it was confirmed that the infant was healthy.Conclusions: We performed genetic diagnosis of Usher syndrome by disease-targeted gene panel and have proven that this method can serve as a rapid, high-throughput, and efficient screening strategy. The novel mutation expands the spectrum of USH2A variants in USH.

A new strategy for prenatal diagnosis in a sporadic haemophilia B family

Haemophilia ◽  
2001 ◽  
Vol 7 (4) ◽  
pp. 416-418 ◽  
Author(s):  
M. Acquila ◽  
F. Bottini ◽  
A. Valetto ◽  
D. Caprino ◽  
P. G. Mori ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Haemophilia B ◽  
New Strategy

185: Does Prenatal Diagnosis Influence the Morbidity Associated with Left in Non or Poorly-Functioning Renal Moiety After Endoscopoic Puncture of Ureterocele?

2004 ◽  
Vol 171 (4S) ◽  
pp. 49-49
Author(s):  
Boris Chertin ◽  
Ron Rabinowitz ◽  
Avner Polak ◽  
Irit Hadas-Halpren ◽  
Amicur Farkas
Keyword(s):  
Prenatal Diagnosis

Sharing of Worldwide Spread Knowledge Using Hypermedia Facilities & Fast Communication Protocols (Mosaic and World Wide Web): The Example of ExPASy

1995 ◽  
Vol 34 (01/02) ◽  
pp. 75-78 ◽  
Author(s):  
R. D. Appel ◽  
O. Golaz ◽  
Ch. Pasquali ◽  
J.-C. Sanchez ◽  
A. Bairoch ◽  
...  
Keyword(s):  
World Wide Web ◽  
World Wide ◽  
Relevant Literature ◽  
Communication Protocols ◽  
Laboratory Data ◽  
Central Element ◽  
University Hospital ◽  
New Information ◽  
The University ◽  
Link Information

Abstract:The sharing of knowledge worldwide using hypermedia facilities and fast communication protocols (i.e., Mosaic and World Wide Web) provides a growth capacity with tremendous versatility and efficacy. The example of ExPASy, a molecular biology server developed at the University Hospital of Geneva, is striking. ExPASy provides hypermedia facilities to browse through several up-to-date biological and medical databases around the world and to link information from protein maps to genome information and diseases. Its extensive access is open through World Wide Web. Its concept could be extended to patient data including texts, laboratory data, relevant literature findings, sounds, images and movies. A new hypermedia culture is spreading very rapidly where the international fast transmission of documents is the central element. It is part of the emerging new “information society”.

Patient Scheduling — (Bibliography)

1977 ◽  
Vol 16 (02) ◽  
pp. 112-115 ◽  
Author(s):  
C. O. Köhler ◽  
G. Wagner ◽  
U. Wolber
Keyword(s):  
Information Processing ◽  
Medical Care ◽  
Medical Informatics ◽  
Relevant Literature ◽  
Patient Scheduling ◽  
Individual Scientist ◽  
Set Up ◽  
The Individual ◽  
New Literature ◽  
Current Systems

The entire field of information processing in medicine is today already spread out and branched to such an extent that it is no longer possible to set up a survey on relevant literature as a whole. But even in narrow parts of medical informatics it is hardly possible for the individual scientist to keep up to date with new literature. Strictly defined special bibliographies on certain topics are most helpful.In our days, problems of optimal patient scheduling and exploitation of resources are gaining more and more importance. Scientists are working on the solution of these problems in many places.The bibliography on »Patient Scheduling« presented here contains but a few basic theoretical papers on the problem of waiting queues which are of importance in the area of medical care. Most of the papers cited are concerned with practical approaches to a solution and describe current systems in medicine.In listing the literature, we were assisted by Mrs. Wieland, Mr. Dusberger and Mr. Henn, in data acquisition and computer handling by Mrs. Gieß and Mr. Schlaefer. We wish to thank all those mentioned for their assistance.

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