Search results for "Malformation"
showing 10 items of 208 documents
The Challenges of the European Anorectal Malformations-Net Registry
2015
Item does not contain fulltext Anorectal malformations (ARM) have a low prevalence, patients need specialized surgical care, and in many cases, patients born with ARM even need life-long aftercare. Due to its low prevalence most patients are still treated in low-volume pediatric surgical centers without any adequate monitoring of the outcome. Data on prevalence, comparison of different surgical techniques, and prospective outcome measurements are still scarce and difficult to interpret. In 2010, a consortium was founded (ARM-Net consortium) including several European pediatric surgical centers to collaborate more in research and share knowledge on ARM. One of the structures started by the c…
Hilar Fusion: A Rare Renal Malformation
1988
An uncommon case of a 42-year-old man with hilar renal symphysis in association with lithiasis and 'tubular precalyceal ectasia' is described.
Congenital double lip associated to hemangiomas: Report of a case
2004
Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-27T11:21:03Z No. of bitstreams: 0Bitstream added on 2014-05-27T14:33:45Z : No. of bitstreams: 1 2-s2.0-3543121270.pdf: 61328 bytes, checksum: 7b80f6694b9e57340f5311bb4101c338 (MD5) Made available in DSpace on 2014-05-27T11:21:03Z (GMT). No. of bitstreams: 0 Previous issue date: 2004-03-01 Double lip is a developmental abnormality which may occur either isolated or as a component of Ascher's syndrome. A case of congenital double lip associated to hemangiomas and enlargement of the thyroid is reported. The oral and facial hemangiomas were excised under local anesthesia. Surgical reconstruction of the upper li…
Quality of Life in Individuals Affected by Arnold Chiari Malformation: Comparison and Validation of a Measurement Instrument.
2017
BACKGROUND Introduction. Arnold Chiari Malformation (ACM) type I is a pathology whose symptomatology has repercussions for the quality of life of those affected by it. Quality-of-life measurement instruments can allow the severity of the impact of Chiari type I malformation on patients' lives to be monitored. The Chiari Symptom Profile (CSP) is a valid and reliable instrument designed for this purpose. The aim of the study was to adapt the CSP to Spanish and to explore the reliability and validity of this construct in the context of Spanish-speaking patients with ACM. METHODS The English CSP instrument has a good internal validity and consistency. We used a standardized procedure for the li…
Clinical significance of the quantitative and qualitative determination of the cerebral blood flow through the use of isotopes
1966
Es wird über die bisher entwickelten Methoden zur bestimmung der Hirndurchblutung mit radioaktiven Isotopen berichtet, wobei die quantitativen Untersuchungsmethoden hinsichtlich ihrer klinischen Bedeutung den qualitativen gegenübergestellt werden. Während die quantitativen Methoden eine genaue Bestimmung des cerebralen Blutvolumens und damit der Gesamtdurchblutung des Hirns bzw. bestimmter Hirnareale ermöglichen, bieten die qualitativen Untersuchungsmethoden hinsichtlich der klinisch-diagnostischen Aussagekraft besondere Vorteile. Aus der Bestimmung der Zirkulationszeit des Hirns und dem Verlauf der über beiden Hemisphären registrierten Aktivitätskurven lassen sich differenzial-diagnostisch…
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
2022
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…
Interstitial pregnancy in a patient with ipsilateral adnexal absence: Case report and literature review
2013
Unilateral ovarian absence (UOA) with fallopian tube absence is a rare condition. The true incidence is unknown. Here, we report a case of a woman with left tubal and ovarian absence, undergoing laparoscopy for an ipsilateral interstitial pregnancy (IP). The gestational mass was excided using the purse string technique to achieve better haemostasis. Probable etiologies are discussed and literature reviewed. According to our analysis the reproductive outcome of women affected by this rare anomaly is not compromised. Its impairment should be related to comorbidities or other unexplained causes. © Copyright 2014, CIC Edizioni Internazionali, Roma.
Current Concepts and Perspectives on Brain Arteriovenous Malformations: A Review of Pathogenesis and Multidisciplinary Treatment.
2021
Brain arteriovenous malformations (bAVMs) are unusual vascular pathologies characterized by the abnormal aggregation of dilated arteries and veins in the brain parenchyma and for which the absence of a normal vascular structure and capillary bed leads to direct connections between arteries and veins. Although bAVMs have long been believed to be congenital anomalies that develop during the prenatal period, current studies show that inflammation is associated with AVM genesis, growth, and rupture. Interventional treatment options include microsurgery, stereotactic radiosurgery, and endovascular embolization, and management often comprises a multidisciplinary combination of these modalities. T…
UNA RARA COMPLICANZA DEL DIVERTICOLO INTRALUMINALE DEL DUODENO
1986
The Authors report a case of intraluminal diverticulum of the duodenum complicated by endodiverticulum litiasis
Endovascular treatment for chronic cerebrospinal venous insufficiency: is the procedure safe?
2010
Objectives The aim of this report is to assess the safety of endovascular treatment for chronic cerebrospinal venous insufficiency (CCSVI). Although balloon angioplasty and stenting seem to be safe procedures, there are currently no data on the treatment of a large group of patients with this vascular pathology. Methods A total of 564 endovascular procedures (balloon angioplasty or, if this procedure failed, stenting) were performed during 344 interventions in 331 CCSVI patients with associated multiple sclerosis. Results Balloon angioplasty alone was performed in 192 cases (55.8%), whereas the stenting of at least one vein was required in the remaining 152 cases (44.2%). There were no majo…