Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.

Objectives: Our objective was to reinforce clinical knowledge of hearing impairment in KBG syndrome. KBG syndrome is a rare genetic disorder due to monoallelic pathogenic variations of ANKRD11.The typical phenotype includes facial dysmorphism, costal and spinal malformation and developmental delay.

Rapidly progressive bilateral postmeningitic deafness in children: Diagnosis and management.

Objectives: To determine the diagnostic approach to severe or profound bilateral postmeningitic deafness and to propose management guidelines.

Material And Methods: A retrospective review of five patients (two adolescents and three infants) with rapidly progressive severe bilateral deafness following an episode of meningitis managed between 2004 and 2010.

Results: The two adolescents presented Neisseria meningitidis meningitis and the three infants presented Streptococcus pneumoniae meningitis.

Laryngeal sensation recovery by reinnervation in rabbits.

Objectives/hypothesis: To assess the possibilities of restoring laryngeal sensation in an animal model by way of the internal branch of the superior laryngeal nerve (ibSLN) bilateral section and anastomosis to itself or to transposition nerves (i.e., lingual, glossopharyngeal, and great auricular nerves).

[Genetic deafness].

Objectives: The aim of this study was to review the different types of genetic deafness.

Methods: We describe syndromic and isolated sensorineural deafness and transmission deafness.

Results: Genetic sensorineural syndromic deafness represents 30% of cases of genetic deafness.

Results of cochlear implantation in two children with mutations in the OTOF gene.

Objective: The purpose of the study is to present the results of cochlear implantation in case of deafness involving mutations in the OTOF gene. This form of deafness is characterized by the presence of transient evoked otoacoustic emissions (TEOAE). In cases of profound deafness with preserved TEOAE, two main etiologies should be considered: either an auditory neuropathy (a retrocochlear lesion) or an endocochlear lesion.

Auditory neuropathy or endocochlear hearing loss?

Aims: The purpose of the study was to define boundaries between endocochlear hearing loss and auditory neuropathy in children with congenital profound hearing loss and positive otoacoustic emissions.

Patient: A child presented with bilateral profound hearing loss, which was confirmed by the absence of evoked auditory potentials at 110 dB and with conserved otoacoustic emissions. The lack of any relevant medical history, a normal neurologic pediatric examination, and the improvement obtained with powerful hearing aids suggested an endocochlear cause.

Identification of IgG-immunocomplex macroprolactin with an immunometric "sandwich" system: technical and clinical considerations.

MacroPRL can be due either to anti-PRL autoantibodies IgG (IgG-macroPRL) or other PRL containing molecules without IgG-PRL immuncomplexes (nIgG-macroPRL), the composition of which is not fully clarified. The aims of this study were: a) testing a new immunometric assay, capable of recognising IgG-macroPRL, b) looking for any biological and/or clinical discrepancy between nlgG-macroPRL and IgG-macroPRL. Clinical, biological and neuroradiological data were recorded from 28 hyperprolactinemic women classified as macroprolactinemic on the basis of PRL recoveries after polyethylene glycol (PEG) precipitation <50% on a Roche Elecsys analyser.

Macroprolactinemia: predictability on clinical basis and detection by PEG precipitation with two different immunometric methods.

Prolactin (PRL) in human serum is present in three species: monomeric PRL (23 kDA), big PRL (50-60 kDa) and big, big PRL (bb-PRL or macroprolactinemia) of 150-170 kDa. Macroprolactin seems to be mainly composed of a molecule of monomeric PRL and an immunoglobulin G anti PRL. Its biological activity is considered low or absent, but it is measured, at various degrees, by the immunoassay method, thus causing diagnostic problems.

Calcitonin and prolactin serum levels in heroin addicts: study on a methadone treated group.

Serum calcitonin (CT) and prolactin (PRL) levels were determined in 21 heroin addicts in hospital treatment with methadone. After withdrawal of heroin the values of CT 112.4 +/- 62.

Endocrine function changes in young males during long-term antiepileptic therapy with phenobarbitone and carbamazepine.

The effects of long-term antiepileptic combined therapy with phenobarbitone (PB) and carbamazepine (CBZ) on the major endocrine functions were evaluated in a selected group of 15 young males with partial epilepsy. The plasma basal levels of triiodothyronine (T3), thyroxine (T4), free thyroxine (FT4), thyrotropin (TSH), cortisol (CO), dehydroepiandrosterone-sulfate (DHEA-S), adrenocorticotropin (ACTH), growth hormone (GH), prolactin (PRL) and testosterone (T) were determined. TSH and PRL were also assessed in response to i.