53 research outputs found
The effectiveness of a nurse-led intervention with the distress thermometer for patients treated with curative intent for breast cancer: design of a randomized controlled trial
Clinical outcome and follow-up of sonographically suspected in utero urinary tract anomalies
PURPOSE: We determined the outcome of pregnancy and long-term renal function in cases of sonographically detected fetal urinary tract anomalies (UTAs). METHODS: This was a retrospective cohort study done at an academic hospital (tertiary referral center). All records of prenatal sonographic examinations done between January 1985 and October 1994 that indicated a suspicion for UTA were examined for perinatal mortality, postnatal confirmation of sonographic diagnosis, postnatal management, and calculated creatinine clearance to determine the ultimate renal function. RESULTS: Of 99 cases with suspected UTAs, 28 pregnancies were terminated because the UTA was considered fatal, and 32 fetuses died perinatally. Twenty-one children are alive with good renal function, 4 with moderate renal function, and 2 with poor renal function. The prenatal diagnosis was not confirmed after birth in 12 children, all of whom are alive with good renal function. The prognosis for prenatally suspected UTA was worse in cases of bilateral involvement and in cases with associated multiple malformations. CONCLUSIONS: The prognosis of prenatally diagnosed UTAs depends on the specific anomaly suspected. Abnormal karyotype, other associated malformations, and bilateral involvement are unfavorable determinants of the prognosis in individual case
Expression and Characterization of Recombinant Human Protein S in Heterologous Cells - Studies of the Interaction of Amino Acid Residues Leu-608 to Glu-612 with Human C4b-Binding Protein
Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients
The development of neutralizing antibodies against factor VIII (FVIII) is a major complication of treatment with FVIII in patients with severe haemophilia A. This study was designed to describe the relationship between the type and location of the factor 8 (F8) gene mutation and the development of clinically relevant inhibitors in patients with severe haemophilia A. We conducted a single centre cohort study among 318 consecutive patients (baseline FVIII activity level <0.01 IU mL(-1)) born between 1934 and 2007 who were treated with FVIII on at least 50 exposure days. The primary outcome was clinically relevant inhibitor development, defined as the occurrence of at least two positive inhibitor titres and a decreased recovery. Clinically relevant inhibitors were diagnosed in 14% (43) of patients (30 high-titre). The cumulative incidence of inhibitor development was 18% (35 of 200) in high-risk gene defects (67% in patients with large deletions, 30% in patients with nonsense mutations, 15% in patients with intron 1 or 22 inversions) and 7% (8 of 118) in low-risk gene defects (7% in patients with small deletions and insertions, 6% in patients with missense mutations, 8% in patients with splice site mutations). In patients with point mutations, the cumulative risk of developing inhibitors was highest in patients with mutations in the A3 and C2 domains (13% and 17% respectively). In conclusion, in agreement with earlier observations, the type and location of the F8 gene mutation were important determinants of inhibitor development in patients with severe haemophilia
Targeted NGS based hereditary autoinflammatory disorder screening in routine diagnostics, two year experience in the Netherlands
A Mutation in the Protein S Pseudogene Is Linked to Protein S Deficiency in a Thrombophilic Family
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