Biomedical subjects

A Marcolla

Publications and source records attributed to A Marcolla.

7 recordsLinked to original sources

PubMed2006

[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. A frequent cause is Pendred syndrome, which associates congenital sensorineural deafness with goitre and malformations of the inner ear which can be identified on computed tomography scan. Isolated deafness which is responsible for 70% of cases of genetic deafness is then outlined. Among the different types of isolated deafness, 80% are autosomal recessive disorders. A frequent form of autosomal recessive deafness is due to mutations in the connexin 26 gene. Lastly, we detail transmission deafness dominated by aplasia. Major aplasia is characterized by a malformation of the external ear associated with malformations of the middle ear whereas, minor aplasia corresponds to a malformation of the middle ear, sometimes associated with minor external ear malformations. CONCLUSION: For each type of deafness we propose a systematic assessment.

Branchio-Oto-Renal Syndrome↗

PubMed2005

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. It is essential to differentiate these two entities with regards to therapy and screening. PATIENTS: We report two children who presented with profound prelingual deafness, confirmed by the absence of detectable responses to auditory evoked potentials (AEP), associated with the presence of bilateral TEOAE. Genetic testing revealed mutations in OTOF, confirming DFNB9 deafness. Both patients have been successfully implanted (with a follow-up of 18 and 36 months, respectively). MAIN OUTCOME MEASURES: Clinical (oral production, closed and open-set words and sentences list, meaningful auditory integration scale), audiometric evaluation (TEOAE, AEP) before and after implantation, and neural response telemetry (NRT). RESULTS: Both patients present a good quality of clinical responses and electrophysiological tests after implantation, indicating satisfactory functioning of the auditory nerve. This confirms the endocochlear origin of DFNB9 and suggests that these mutations in OTOF lead to functional alteration of inner hair cells. CONCLUSION: In the absence of a context of neurological syndrome, the combination of absent AEP and positive TEOAE should lead to a genetic screening for mutations in OTOF, in order to undertake the appropriate management.

Audiometry↗

PubMed2005

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. Genetic testing identified mutations in OTOF, responsible for the DFNB9 recessive form of hearing loss. RESULTS: In recent years, cases of children with hearing loss associated with positive otoacoustic emissions have been labeled as "auditory neuropathy." Classically, this form of hearing loss is refractory to the use of hearing aids and cochlear implants. Mutations in OTOF lead to inner hair cells dysfunction, whereas the outer hair cells are initially functionally preserved. As this form of endocochlear hearing loss can be detected at a molecular level, genetic testing can be proposed for cases of nonsyndromic auditory neuropathy, as those children could benefit from cochlear implantation. CONCLUSION: It is advisable to reserve the term "auditory neuropathy" for patients who present hearing loss and conserved otoacoustic emissions in the context of a neurologic syndrome or for children with suggestive perinatal history. In other cases, genetic testing for mutations in OTOF should be carried out.

Child, Preschool↗

PubMed2004

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. Fourteen sera with recoveries >70% were employed as controls for the IgG-macroPRL assay. An immunometric "sandwich" assay for IgG-macroPRL was performed employing an anti-PRL antibody to capture PRL and a second one binding and tracing the immunoglobulin G (IgG) component. For this purpose, 2 kits were simultaneously employed, the first for PRL assay and the second for Anti-Toxoplasma IgG assay. The procedure was applied to both DiaSorin LIAISON and Abbott AxSYM systems. IgG-macroPRL immunometric detection was obtained with DiaSorin LIAISON. Twenty out of 28 (72%) sera gave luminescent signal higher than the maximum control serum and were considered as IgG-macroPRL carriers. Our results confirm the high IgG-macroPRL prevalence in macroprolactinemia. No significant clinical differences appear between IgG and nIgG-macroPRL. Conversely, significantly higher PRL values (p =0,039) and lower recoveries (p = 0.001) were found in IgG-macroPRL. Further studies with reference methods, such as gel chromatography and human IgG (h-IgG) affinity columns, are needed to fully validate this IgG-macroPRL immunometric assay.

Adult↗

PubMed2003

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. Polyethylene Glycol (PEG) has been employed to precipitate macroprolactin, allowing its detection. This method is not applicable to all immunoassays for technical reasons. Our aim was to evaluate: 1) the predictability of macroprolactin on a clinical basis; 2) the possibility of applying PEG precipitation to Abbott AxSYM analyzer beside Roche Elecsys (already approved). We classified 34 hyperprolactinemic women, on a clinical and imaging basis, in four groups: A: functional hyperprolactinemia; B: pituitary lesions hyperprolactinemia; C: probably macroprolactinemia; D: unclassifiable hyperprolactinemia and a "control" group E of 19 healthy women. PRL was assayed, both with Elecsys and AxSYM, before and after PEG serum treatment. Eleven out of twelve group C, and 5/7 group D patients showed macroprolactinemia, against 1/7 in A and 1/8 in B. PEG was suitable for AxSYM only after the same treatment of the calibration standards, thus performing outcomes overlapping Elecsys. For clinical purposes, in the presence of macroprolactinemia, besides the recovery ratio, molar or ponderal monomeric PRL assay should be calculated.

Adolescent↗

PubMed1987

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.v. injection of thyrotropin releasing hormone (TRH). The results were compared with those found in 37 age-matched male volunteers. The most remarkable changes affected pituitary-thyroid axis and pituitary-adrenal axis, while the hypothalamic-pituitary response was normal. No correlation between hormonal changes and duration of epilepsy and therapy or ADs plasma levels was found. There seems to be considerable individual variability of response to antiepileptic therapy, probably depending on peripheral changes in the hormonal metabolism.

Adult↗

PubMed1987

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 +/- 62.9 pg/ml, and PRL 19.1 +/- 10.1 ng/ml were both significantly higher (P less than 0.001) than in normal controls (62.2 +/- 43.8 pg/ml and 9.1 +/- 3.5 ng/ml, respectively). After withdrawal of methadone, i.e. 12 +/- 3.7 days after heroin withdrawal, CT values were 76.6 +/- 32.7 ng/ml (a significant level of P less than 0.02 towards initial values). No correlation was noted between CT and PRL values.

Adult↗