Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

Leber Congenital Amaurosis (LCA), the most severe inherited retinal dystrophy, is genetically heterogeneous, with 14 genes accounting for 70% of patients. Here, 91 LCA probands underwent LCA chip analysis and subsequent sequencing of 6 genes (CEP290, CRB1, RPE65, GUCY2D, AIPL1and CRX), revealing mutations in 69% of the cohort, with major involvement of CEP290 (30%). In addition, 11 patients with early-onset retinal dystrophy (EORD) and 13 patients with Senior-Loken syndrome (SLS), LCA-Joubert syndrome (LCA-JS) or cerebello-oculo-renal syndrome (CORS) were included.

Comparison of different methods to assess fistula flow.

Background: We compared three access flow (AF) monitoring techniques: blood dilution using ultrasound (US), blood temperature monitoring (BTM), and online clearance monitoring (OCM), and investigated the impact of dialyzer blood flow (Q(B)), measurement time point and patient's position.

Methods: US, BTM and OCM were performed in 20 hemodialysis (HD) patients at Q(B)300. OCM was unreliable for measuring AF and was therefore further omitted.

Vascular access surveillance: evaluation of combining dynamic venous pressure and vascular access blood flow measurements.

Background/aims: Vascular access thrombosis is one of the most morbid problems encountered by hemodialysis patients. Surveillance protocols utilizing venous pressure (Vp) and vascular access blood flow (VABF) measurements have been employed to preserve vascular access. We undertook a study to evaluate combined dynamic Vp and VABF measurements in the identification of vascular access impairment.

Clinical findings in the renal victims of a catastrophic disaster: the Marmara earthquake.

Background: The clinical course of acute renal failure (ARF) related to crush syndrome is very complex, because of co-existing surgical and/or medical complications. After the devastating Marmara earthquake that struck Turkey in August 1999, 639 patients were identified with nephrological problems, whose clinical findings have been the subject of this analysis.

Methods: Specific questionnaires asking about 63 variables were sent to 35 reference hospitals that treated the victims.

Hemodynamics in patients with intradialytic hypotension treated with cool dialysate or midodrine.

Cool dialysate and midodrine have been used successfully to treat intradialytic hypotension (IDH) in the end-stage renal disease population. However, the exact mechanisms by which these interventions improve hemodynamic stability are not well known. We undertook a study to evaluate the effect of these modalities on intradialytic hemodynamics in patients with documented dialysis-associated hypotension.