Search results for "hunt"
showing 10 items of 286 documents
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.
2010
Purpose: To characterize surgical histories typical of patients with mucopolysaccharidosis type II, thereby broadening understanding of the natural history of these patients and helping physicians recognize the disease. Methods: Data on surgical interventions from the Hunter Outcome Survey—a multinational, observational database of patients with mucopolysaccharidosis type II—were analyzed. The study population comprised 527 patients for whom surgical data were reported on/before July 23, 2009. Results: Surgical interventions were performed in 83.7% of the study population. Patients underwent their first operation at a median age of 2.6 years. Tympanostomies, repairs of inguinal hernias, and…
Late, giant brachial artery aneurysm following hemodialysis fistula ligation in a renal transplant patient: case report and literature review.
2012
Brachial artery aneurysm (BAA) following long-standing arteriovenous fistula ligation after renal transplantation is uncommon. Herein, we describe the case of a 64-year-old man who developed a giant symptomatic BAA 21 years after ligation of the fistula. He was submitted to surgical excision of the aneurysm followed by interposition prosthetic graft.
CSF shunt infections in children
1993
The incidence of shunt infections and possible risk factors was investigated by chart analysis. From 1986 to 1989 350 shunt procedures were performed including 273 ventriculoperitoneal shunts and 75 ventriculoatrial shunts. Twenty-eight infectious episodes (8%) occurred in 25 patients during a median follow-up time of 20 months. For 204 patients the follow-up time could be prolonged until September 1992. In these patients no infectious episodes occurred in the extended observation period. In 24 cases (85.7%) a causative organism could be isolated. The infecting organisms were gram-positive cocci in 22 cases (78.6%) and gram-negative bacilli in two cases. The main signs and symptoms were fev…
Toxoplasma gondii seroprevalence in extensively farmed wild boars (Sus scrofa) in Denmark
2019
Toxoplasma gondii is a zoonotic parasite of worldwide importance. In this study, we estimated T. gondii seroprevalence in extensively farmed wild boars in Denmark, where little is known about T. gondii in animal hosts. Our study focused on wild boars because they are considered good indicator species for the presence of T. gondii, and wild boar meat is used for human consumption. Serum samples from 101 wild boars collected in 2016-2018 from five different locations from the continental part of Denmark, Jutland, were screened for anti-T. gondii antibodies. The samples were analysed using a commercial indirect enzyme-linked immunosorbent assay (ELISA). Samples from 28 (27.7%) of the 101 wild …
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.
1992
Hunter syndrome is an X-linked mucopoly-saccharidosis due to deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). A cDNA clone containing the entire coding region of the human IDS gene, mapped in Xq28, has been used as molecular probe to study a patient with Hunter syndrome. A submicroscopic deletion has been detected that spans the IDS gene as well as DXS466 and DXS304, 2 loci mapped probably not more than 900 kb from the IDS locus. A detailed clinical description of the patient is provided and his phenotype is compared to that of other patients with IDS deletion described recently. By following the segregation of a restriction fragment length polymorphism at the IDS locus in th…
Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.
1992
Hunter disease (McKusick 309900) is an X-chromosomal mucopolysaccharidosis due to deficiency of the lysosomal enzyme iduronate-2-sulphatase (IDS; EC 3.1.6.13). Diagnosis is based on both the typical clinical features of patients and the lack/reduction of IDS activity. Female carriers show no symptoms of the disease. In the past, several different assays were elaborated for measuring enzyme activity in carriers but none of them proved to be suitable for detecting heterozygotes reliably (Zlotogora and Bach 1984)
Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene
1993
Hunter disease is an X-linked mucopolysaccharidosis caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). Using the IDS cDNA and DNA probes corresponding to loci flanking the IDS locus, we performed molecular genetic studies in two patients with Hunter syndrome. An interstitial deletion spanning the middle part of the IDS gene was found in the first patient. The second patient carries a gross gene rearrangement that can be detected after HindIII or EcoRI digestion of genomic DNA, and is similar to that found recently in seven unrelated Hunter patients. Our data suggest that the structural aberration observed is a partial intragenic inversion. As the same altered hybridiz…
Cumulative incidence rates of the mucopolysaccharidoses in Germany
2005
In order to estimate the cumulative incidence rates of the mucopolysaccharidoses (MPS) in Germany, a retrospective epidemiological survey covering the period between 1980 and 1995 was implemented. Multiple ascertainment sources were used to identify affected patients. A prevalence of approximately 0.69 cases per 100,000 births was obtained for MPS I (Hurler phenotype). Within the study period, 4 patients with Hurler/Scheie phenotype and 7 cases with Scheie disease were detected. The cumulative incidence for MPS II (Hunter syndrome) was estimated as 0.64 cases per 100,000 births (1.3 cases per 100,000 male live births); that for MPS III (Sanfilippo syndrome types A, B and C) as 1.57 cases in…
Antibiotic single-dose prophylaxis of shunt infections.
1989
Shunt infections after implantation or revision of a shunt for CSF drainage in hydrocephalic patients are serious complications. In view of their frequency, this study investigated the efficacy of prophylactic administration of a single dose of the antibiotic cefazedone in reducing in the post-operative infection rate. Fifty children of up to 14 years of age suffering from hydrocephalus of various etiologies were treated prophylactically and compared with a similar untreated group. The diagnosis of infection was based mainly on microbiological and clinical observations and investigations. Classical infection parameters were also recorded and evaluated, but played only a secondary role in es…
Radiation exposure in biliary procedures performed to manage anastomotic strictures in pediatric liver transplant recipients: comparison between radi…
2013
The aim of this study was to estimate radiation exposure in pediatric liver transplants recipients who underwent biliary interventional procedures and to compare radiation exposure levels between biliary interventional procedures performed using an image intensifier-based angiographic system (IIDS) and a flat panel detector-based interventional system (FPDS). We enrolled 34 consecutive pediatric liver transplant recipients with biliary strictures between January 2008 and March 2013 with a total of 170 image-guided procedures. The dose-area product (DAP) and fluoroscopy time was recorded for each procedure. The mean age was 61 months (range 4–192), and mean weight was 17 kg (range 4–41). The…