Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

BACKGROUNDProteinuria is considered an unfavorable clinical condition that accelerates renal and cardiovascular disease. However, it is not clear whether all forms of proteinuria are damaging. Mutations in CUBN cause Imerslund-Gräsbeck syndrome (IGS), which is characterized by intestinal malabsorption of vitamin B12 and in some cases proteinuria.

Olfactory function in patients with nonsyndromic orofacial clefts and their unaffected relatives.

Nonsyndromic orofacial clefting is one of the most frequently occurring congenital conditions. The aim of the study was to investigate the prevalence and nature of reduced olfactory function in patients with nonsyndromic cleft lip and/or cleft palate (NSCL/P) and their unaffected first-degree relatives. Olfactory function was tested using the Sniffin' Sticks identification test in patients with NSCL/P, in their unaffected relatives, and in control subjects.

Grommet and adenoid pain evaluation (GRAPE) study.

In the GRAPE study an analysis is made of postoperative pain sensation in children between 6 months and 6 years after adenotomy and placement of ear grommets. Intraoperative treatment with paracetamol versus placebo shows no statistically significant difference in pain between both groups indicating that this type of surgery causes little discomfort and does not require specific intraoperative analgesic treatment.

Epidemiology of ENT emergencies.

Objective: To give an overview of ear, nose, and throat (ENT) pathologies encountered in the emergency room (ER).

Methods: Retrospective analysis of 1296 files of patients visiting the ER between January 2008 and December 2012. Diagnosis, treatment, hospitalisation, referral, and demographic parameters were evaluated.

Syndromic disorders in congenital hearing loss.

Objectives: To investigate the aetiology of congenital hearing loss detected by the universal neonatal hearing screening programme (Algo) that was introduced in Flanders 15 years ago, and, more specifically, to investigate genetic causes.

Methodology: Diagnostic work-up of all children with confirmed hearing loss after referral by the Algo screening programme and screening at the neonatal intensive care unit (NICU) of our university hospital.

Results: A hearing loss was confirmed in 505 of the 569 neonates (18% from NICU) referred between 1997 and 2011.

Aetiology of congenital hearing loss: a cohort review of 569 subjects.

Objective: Newborn hearing screening was implemented in Flanders about fifteen years ago. The aim of this study was to determine the aetiology of hearing loss detected by the Flemish screening programme.

Methods: From 1997 to 2011, 569 neonates were referred to our tertiary referral centre after failed neonatal screening with Auditory Brainstem Responses.