33 research outputs found

    Stress-induced Perioperative Depressive Symptoms

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    Sustained stress has been correlated with increases in cortisol levels and decreased levels of brain transmitters including serotonin or dopamine. As a result of better understanding of human pathophysiology and pain physiology, the fields of surgery and anesthesia have seen major advances in the last years.However, a high percentage of patients develop depressive symptoms following major surgery and pathogenic perspective is very complex and require an holistic approach

    At a glance:the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

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    Niemann-Pick type C1 disease (NPC1 [OMIM 257220]) is a rare and severe autosomal recessive disorder, characterized by a multitude of neurovisceral clinical manifestations and a fatal outcome with no effective treatment to date. Aiming to gain insights into the genetic aspects of the disease, clinical, genetic, and biomarker PPCS data from 602 patients referred from 47 countries and diagnosed with NPC1 in our laboratory were analyzed. Patients’ clinical data were dissected using Human Phenotype Ontology (HPO) terms, and genotype–phenotype analysis was performed. The median age at diagnosis was 10.6 years (range 0–64.5 years), with 287 unique pathogenic/likely pathogenic (P/LP) variants identified, expanding NPC1 allelic heterogeneity. Importantly, 73 P/LP variants were previously unpublished. The most frequent variants detected were: c.3019C &gt; G, p.(P1007A), c.3104C &gt; T, p.(A1035V), and c.2861C &gt; T, p.(S954L). Loss of function (LoF) variants were significantly associated with earlier age at diagnosis, highly increased biomarker levels, and a visceral phenotype (abnormal abdomen and liver morphology). On the other hand, the variants p.(P1007A) and p.(S954L) were significantly associated with later age at diagnosis (p &lt; 0.001) and mildly elevated biomarker levels (p ≤ 0.002), consistent with the juvenile/adult form of NPC1. In addition, p.(I1061T), p.(S954L), and p.(A1035V) were associated with abnormality of eye movements (vertical supranuclear gaze palsy, p ≤ 0.05). We describe the largest and most heterogenous cohort of NPC1 patients published to date. Our results suggest that besides its utility in variant classification, the biomarker PPCS might serve to indicate disease severity/progression. In addition, we establish new genotype–phenotype relationships for “frequent” NPC1 variants.</p

    Cochlear implant programming: a global survey on the state of the art

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    The programming of CIs is essential for good performance. However, no Good Clinical Practice guidelines exist. This paper reports on the results of an inventory of the current practice worldwide. A questionnaire was distributed to 47 CI centers. They follow 47600 recipients in 17 countries and 5 continents. The results were discussed during a debate. Sixty-two percent of the results were verified through individual interviews during the following months. Most centers (72%) participated in a cross-sectional study logging 5 consecutive fitting sessions in 5 different recipients. Data indicate that general practice starts with a single switch-on session, followed by three monthly sessions, three quarterly sessions, and then annual sessions, all containing one hour of programming and testing. The main focus lies on setting maximum and, to a lesser extent, minimum current levels per electrode. These levels are often determined on a few electrodes and then extrapolated. They are mainly based on subjective loudness perception by the CI user and, to a lesser extent, on pure tone and speech audiometry. Objective measures play a small role as indication of the global MAP profile. Other MAP parameters are rarely modified. Measurable targets are only defined for pure tone audiometry. Huge variation exists between centers on all aspects of the fitting practice

    Salivary Cortisol Fluctuations and Hyperglicemic Stress in Patients with Abdominal Obesity

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    Objectives We investigated a possible relationship between the onset of hyperglycaemia in prediabetes and the perturbations of hypothalamo-pituitary-adrenocortical axis. Material and methods The study included 20 patients, younger than 65 years (52.15 ± 4.55), having risk factors for diabetes mellitus like abdominal obesity or positive family history. All patients underwent oral glucose tolerance test (OGTT) and 4 concomitant determinations of salivary cortisol levels, in basal condition, at wakening, and at 1, 2, and respectively 3 hours after oral administration of 75 grams of glucose. Results The evolution of salivary cortisol levels in the morning showed that, concomitant with the peak of hyperglycaemia at the third moment of determination (221.75 ± 39.3 mg/dl) it was registered a mild tendency of increasing of salivary cortisol, at the same time (5.26 ± 2.76 mg/ml). Conclusion The simple method of salivary cortisol measurement could become a useful tool for the HPA axis functionality screening

    OBJECTIVE TESTS FOR THE EVALUATION OF COCHLEAR IMPLANT CANDIDATES

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    Introduction: Cochlear implant indications have changed during the last decade. The objective tests are important in the cochlear implantation procedure. Purpose of the study: We proposed an evaluation for the objective tests in establishing a corect indication for cochlear implant in patients with bilateral sensorineural deafness. Materials and methods: We studied a group of 34 patients with bilateral sensorineural hearing loss tested by subjective and objective methods for an eventual cochlear implantation. Results: 74% of the patients presented a profound bilateral sensorineural hearing loss, 15% a severe type, 4% medium, 3% fluctuant and 4% cofosis. The examined patients fulfill the auditory criteria that justify the cochlear implant procedure. Discussions: The evaluation by subjective tests is followed by objective tests, offering provative evidence in clear cases and also in unclear ones. As a supplimentary measure, all the patients evaluated by subjective tests in establishing the possibility for cochlear implantations received at least one objective form of testing. Conclusions: Currently, the objective tests represent an important step in the reccomandation for cochlear implant. In all cases (excepting young children) the objective tests are compared/correlated with the subjective tests before the implantation procedure, specially with the subjective evaluation by a conventional prosthesis

    Electrical Impedances Variations Values in Patients with Cochlear Implant

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    Introduction Identifying the impedance values in the post-surgery care of cochlear implanted patient, provide useful information to adjust the settings of the sound processor for the best possible auditory perception. Material and methods We investigated changes in impedance values of the intracochlear electrodes implanted in 72 patients over a period of 3 months. The measurement was carried out using computer hardware and software interfaces from cochlear implant producers. Results In absence of electrical stimulation, there is an increase of impedance on all electrodes of all cochlear implant models. After activation, the impedances values variations are depending on the type of the device. Conclusions The intraoperatory impedance values and their fluctuations are part of the postoperative common trends for each specific brand. Besides the parameters related to the device, the individual organic features of the inner ear may play an important role in the distribution of electrical impedance profile

    Comorbidity and Health Condition – the Necessity for Integrated Care

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    Comorbidity has become a global health problem, a phenomenon which equally affects developing and developed countries. Comorbidity is associated with an increase of morbidity, mortality, has a strong impact on economy and is multidimensional in the frame of mental health and beyond. Management of comorbidity requires an integrated approach; community related and also focused on person, who takes into account medical, psychiatric and contextual factors

    MANAGEMENT OF FACIAL PALSY CAUSED BY OTOLOGIC PATHOLOGY – CASE REPORT

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    Facial palsy is an invalidating condition especially through the associated aesthetic sequelae. Early diagnosis followed by optimal treatment is of crucial importance for functional rehabilitation of the facial nerve. The first step is the establishment of the etiological factor. One first clue regarding the etiology might be represented by the onset mode of the facial palsy but the value of this sign is questionable. There are cited cases in the literature when a benign or malign tumor will be noticed after sudden onset of facial palsy and not as usual after a progressive symptomatology. This study reports a case of peripheral recurrent facial palsy of congenital cholesteatoma etiology. It is described the onset of the palsy, patient evaluation protocol with special emphasis on differential diagnose, stages needed for treatment and post-operative follow-up

    COCHLEAR IMPLANTATION IN A CHILD WITH COMPLEX BILATERAL INNER EAR AND COCHLEO-VESTIBULAR NERVE MALFORMATIONS

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    Introduction: The cochlear implantation in patients with inner ear malformation has always been a challenge even to the most experienced clinicians. We present the case of a child of 8 years old with profound bilateral sensorineural hearing loss and the absence of language development with indication of cochlear implantation as single solution for hearing and speech rehabilitation. Methods: The audiological assessment indicates the cochlear implantation. Preoperative CT scan revealed a bilateral inner ear malformation (cochlear common cavity deformity on the right side, cochlear aplasia on the left ear and bilateral vestibular malformation). Brain magnetic resonance showed the presence of auditory nerve only to the right side. The girl was implanted on the right ear in the common cavity with an Advanced Bionics device, HiRes90K with HiFocus1j electrode. Results: The insertion of the portelectrode inside the malformed inner ear was confirmed by X-ray. Audiological evaluation had shown an average of hearing thresholds at 36,25 dB HL in free field pure tone audiometry at 22 months post-implantation. The speech perception was evaluated according to CAP (categories of auditory performance) index at 5 and to the speech intelligibility rating scale (SIR) to 3. Conclusions: The children with inner ear malformations can safely benefit of cochlear implantation. The results for tonal hearing were close to that of cochlear implanted children with normal ear anatomy, but were limited for speech understanding and speech production

    Vestibular Manifestations In Retrocochlear Tumoral Pathology

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    Introduction Retrocohlear tumoral pathology is dominated by the vestibular schwannoma (VS). The VS involve the vestibular division of the 8th cranial nerve and grows slowly leading to a gradual installation of the unilateral vestibular impairment allowing simultaneous achievement of central compensation process. Sometimes only a careful history will reveal a slow imbalance, a tendency to move towards to a certain lateral part. Remarkable progress has been made in the VS early diagnosis so that treatment can take place earlier with good results. Materials and methods A representative case is presented. Beside general, neurological and ENT examination, the diagnostic workup comprised of computerized dynamic posturography, videonystagmography, pure tone audiometry, auditory brainstem evoked response, MRI brainstem evaluation. Results In VS computerized dynamic posturography allows an overall of the vestibular function with polymorphic results. Bithermal caloric testing is, combined to auditory brainstem responses a good tool to diagnose and evaluate unilateral vestibular impairment in vestibular schwannoma. Discussion Detailed history, careful exploration of vestibular and cochlear function can lead to the conclusion of possible retrocochlear injury. For confirmation of its existence and its nature contrast-enhanced CT or MRI are necessary. Conclusion Any unilateral cochlear or vestibular symptoms (unilateral or asymmetric sensorineural hearing loss, unilateral tinnitus, unilateral vestibular impairment of any degree with central compensation or not) should raise suspicion of possible VS
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