Search results for "Norm"

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region

2010

Livebirth after uterus transplantation.

2015

Uterus transplantation is the first available treatment for absolute uterine infertility, which is caused by absence of the uterus or the presence of a non-functional uterus. Eleven human uterus transplantation attempts have been done worldwide but no livebirth has yet been reported.In 2013, a 35-year-old woman with congenital absence of the uterus (Rokitansky syndrome) underwent transplantation of the uterus in Sahlgrenska University Hospital, Gothenburg, Sweden. The uterus was donated from a living, 61-year-old, two-parous woman. In-vitro fertilisation treatment of the recipient and her partner had been done before transplantation, from which 11 embryos were cryopreserved.The recipient an…

Congenital Müllerian anomalies: diagnostic accuracy of three-dimensional ultrasound

1996

Objective To determine whether it is possible to identify and diagnose accurately Mullerian anomalies with three-dimensional (3-D) ultrasound (US). Design Controlled blinded clinical study. Setting Normal human volunteers undergoing infertility evaluation in a university hospital. Patients Forty-two patients who underwent laparoscopy and hysterosalpingography as part of their work up for infertility and were found to have either a normal uterus (30 patients) or a Mullerian abnormality (12 patients) consented to be evaluated with 3-D US by sonographers who were unaware of their infertility history or of their laparoscopy and hysterosalpingography diagnoses. Interventions Transvaginal 3-D US …

The Fontan-Operation: From Intra- to Extracardiac Procedure

2003

Purpose For treatment of univentricular heart, the Fontan operation has been established as the definitive palliation. The current controversy is mainly based on the high incidence of arrhythmias after an intra-atrial lateral tunnel Fontan operation. Methods From January 1995 until April 2002. 46 children underwent a Fontan-type operation with or without a small fenestration. In 33 patients (group I) an Intracardiac tunnel and in 13 patients (group II) an extracardiac conduit procedure was performed. Principal findings There was no perioperative mortality. All patients showed postoperative a significant increase of arterial oxygen saturation, from 76 to 86% after surgery with fenestration, …

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

2011

Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p…

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.

2012

International audience; Floating-Harbor syndrome (FHS) is characterized by characteristic facial dysmorphism, short stature with delayed bone age, and expressive language delay. To date, the gene(s) responsible for FHS is (are) unknown and the diagnosis is only made on the basis of the clinical phenotype. The majority of cases appeared to be sporadic but rare cases following autosomal dominant inheritance have been reported. We identified a 4.7 Mb de novo 12q15-q21.1 microdeletion in a patient with FHS and intellectual deficiency. Pangenomic 244K array-CGH performed in a series of 12 patients with FHS failed to identify overlapping deletions. We hypothesized that FHS is caused by haploinsuf…

Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP

2013

International audience; Floating-Harbor syndrome (FHS) is a rare disorder characterized by short stature, delayed bone age, speech delay, and dysmorphic facial features. We report here the molecular analysis of nine cases, fulfilling the diagnostic criteria for FHS. Using exome sequencing, we identified SRCAP as the disease gene in two cases and subsequently found SRCAP truncating mutations in 6/9 cases. All mutations occurred de novo and were located in exon 34, in accordance with the recent report of Hood et al. However, the absence of SRCAP mutations in 3/9 cases supported genetic heterogeneity of FH syndrome. Importantly, no major clinical differences were observed supporting clinical h…

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients

2000

Friedreich's ataxia is caused by mutations in the FRDA gene that encodes frataxin, a nuclear-encoded mitochondrial protein. Most patients are homozygous for the expansion of a GAA triplet repeat within the FRDA gene, but a few patients show compound heterozygosity for a point mutation and the GAA-repeat expansion. We analyzed DNA samples from a cohort of 241 patients with autosomal recessive or isolated spinocerebellar ataxia for the GAA triplet expansion. Patients heterozygous for the GAA expansion were screened for point mutations within the FRDA coding region. Molecular analyses included the single-strand conformation polymorphism analysis, direct sequencing, and linkage analysis with FR…

Laparoscopic-ultrasonographic combined technique for the creation of a neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome

1996

Objective To create a neovagina using a combined laparoscopic and ultrasonographic technique in Mayer-Rokitansky-Kuster-Hauser syndrome by modification of Vecchietti's operation. Design Case report. Setting Division of Physiopathology of Reproduction, University of Palermo, Palermo, Italy. Main Outcome Measure(s) The advancement of the needle from the pseudohymen, through the vesicorectal space using a triple contrast ultrasonographic technique. Result(s) The ultrasonographic scanning guides the accurate transit from external genitalia to the peritoneal cavity. Conclusion(s) This original approach allowed a safe and rapid creation of a neovagina in a case of Mayer-Rokitansky-Kuster-Hauser s…

Reduced secretion of proinflammatory cytokines of monosodium urate crystal‐stimulated monocytes in chronic renal failure: an explanation for infreque…

2000

In gouty arthritis, monosodium urate (MSU) crystals interact with monocytes and neutrophils to produce inflammatory reactions associated with acute synovitis. In patients with end-stage renal disease (ESRD), gouty arthritis is a rare condition despite often severe hyperuricaemia. We wondered whether differences in the secretion of proinflammatory cytokines by MSU crystal-stimulated monocytes might be one explanation for the low incidence of gouty arthritis in patients with ESRD compared with healthy controls.Thirteen patients with ESRD on intermittent haemodialysis treatment, six patients with chronic renal failure not yet on dialysis, and 15 age- and sex-matched healthy controls were exami…