Search results for "FISTULA"
showing 10 items of 245 documents
HeterozygousFGF8mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies
2014
Background The acronym VATER/VACTERL association describes the combination of at least three of the following cardinal features: vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. Although fibroblast growth factor-8 (FGF8) mutations have mainly found in patients with Kallmann syndrome, mice with a hypomorphic Fgf8 allele or complete gene invalidation display, aside from gonadotropin-releasing hormone deficiency, parts or even the entire spectrum of human VATER/VACTERL association. Methods We performed FGF8 gene analysis in 49 patients with VATER/VACTERL association and 27 patients …
Intraoperative microvascular Doppler monitoring of blood flow within a spinal dural arteriovenous fistula: a precious surgical tool. Case report.
2001
The authors describe a case of spinal arteriovenous fistula (AVF) treated by a microvauscular Doppler–assisted surgical interruption of the arterialized vein. Microvascular Doppler monitoring represents a valid, widely available, non-invasive tool that enables identification, through flow spectrum analysis, of components of this type of vascular malformation. In this case because the location of the fistula was identified prior to opening the dura only minimally invasive surgery was required. Direct recordings of the arterialized draining vein and the nidus of the fistula demonstrated a pathological spectrum caused by the arterial supply and the disturbed venous outflow in which a high-resi…
ILEO BILIARE: DIAGNOSI E TRATTAMENTO. CASE REPORT
2006
The authors present a case of gallstone intermittent ileus caused by the passage of a big gallstone (about 4 cm in diameter) in the intestinal lumen, through a cholecystoduodenal fistula. They emphasize the peculiarity of the case for the characteristics of symptoms and for casual diagnostic check-up with a ultrasonography. The disease is not frequently diagnosed; today it has a safe recognition by modern imaging. The symptoms can be intermittent and, even when there are the classic signs of intestinal occlusion, the site of the occlusion is various. With a timely endoscopical or surgical approach (open or laparoscopic) it is possible to reduce mortality of patients treated in emergency.
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia
2020
Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development. Methods To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants we perfor…
Fetal Urogenital Sinus with Consecutive Hydrometrocolpos because of Labial Fusion: Prenatal Diagnostic Difficulties and Postpartal Therapeutic Manage…
2006
<i>Objective:</i> To elucidate the differential diagnoses of tumorous dilations in the fetal pelvic region detected by prenatal ultrasound and the postnatal management demonstrated on a fetus with 29 weeks of gestation with a retrovesical located bottle-like cystic structure measuring 54 × 31 × 27 mm within the pelvis. Postnatal findings were a labial fusion and a consecutive hydrometrocolpos due to a urethrovaginal fistula. <i>Method:</i> Case report of a fetus affected by an intricate cloacal anomaly. <i>Results:</i> The long-term prognosis for this nonsyndromic form of hydrometrocolpos without any other structural defects or organic failures after oper…
A case of squamocellular uterine cervix carcinoma metastatic to the skin with enterocutaneous fistula.
2006
Metastases to the skin complicated by enterocutaneous fistula are a rare event in gynecological malignancies. We present the case of a 70-year-old woman with uterine cervix carcinoma metastatic to the skin and treated with surgery and radiotherapy. The last relapse to the skin was complicated by the formation of an enterocutaneous fistula. This low-output fistula was treated with surgery and adequate supportive care. The treatment of enterocutaneous fistulas may be either invasive (surgical resection, surgical repair with corrective procedures or with myocutaneous flaps, colonic and/or urinary diversion, endoscopic treatments with metallic stents) or conservative (skin care and local disin…
Iatrogene Ösophagusperforation bei transösophagealer Echokardiographie
2004
History A 65-year-old patient underwent transesophageal echocardiography which caused a perforation of the upper esophagus. Three months after esophagostomy and gastrostomy the reconstruction was accomplished by a colon interposition graft. The patient postoperatively developed an ischemic necrosis of the graft, followed by a cervical fistula. Food intake and swallowing became impossible. Diagnosis X-ray examinations revealed the cervical fistula and a stenotic colon graft. Treatment and course The retrosternal colon graft was replaced by a gastric interposition graft, which was anastomosed with the cervical esophagus. The postoperative follow-up was normal at first. Increasing retention of…
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of E…
2013
Item does not contain fulltext Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], tracheoesophageal fistula with or without esophageal atresia [TE], renal malformations [R], and limb defects [L]) association. Here, we report the identification of deletions at chromosome 13q using single nucleotide polymorphism-based array analysis in two patients with mild ARM as part of VATER/VACTERL and VATER/VACTERL-like ass…
Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?
2013
Background: VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies. Methods: Data on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL a…
VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis.
1992
Vertebral abnormalities and anorectal and tracheoesophageal defects are the main manifestations in the VATER/VACTERL association. Radial defects vary from radial aplasia to thumb duplication. Heart and renal defects are reported with lower frequency. Additional malformations, such as the laryngeal stenosis described in the present patient, may expand the phenotype of the association. The wide spectrum of congenital abnormalities confirms the high clinical variability of VATER/VACTERL association which seems to be due to a disruption of blastogenesis. © 1992 Wiley-Liss, Inc.