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Biomedical subjects

A Keilmann

Publications and source records attributed to A Keilmann.

At least 19 recordsLinked to original sources
PubMed2007

[Validated diagnostics for dysgrammatism].

BACKGROUND: Non-standardized procedures are used to evaluate, in particular, grammatical performance in most German institutions performing diagnostic procedures on children with impaired speech and language development. This makes a comparison of results difficult. METHODS: We studied 181 boys and 72 girls aged between 5 and 6 years using four subtests of IDIS additionally to the routine procedure. Results were compared to the "degree of dysgrammatism" determined from the traditional evaluation based on expert rating. RESULTS: The new procedure is able to divide the children into groups with normal speech and language ability, with deficits accessible to a traditional logopedic treatment, and with severe speech and language impairment that necessitates intensive treatment. DISCUSSION: The proposed tests allow an accurate evaluation of grammatical performance instead of subjective estimates.

Articulation Disorders↗
PubMed2007

[Hearing loss in patients with Fabry disease].

BACKGROUND: Fabry disease is an X-linked lysosomal storage disease involving deficient activity of alpha-galactosidase A, which leads initially to pain, and later to renal insufficiency, cardiomyopathy and stroke. Until now few details are available on hearing impairment in patients with Fabry disease, and especially few relating to female patients. PATIENTS AND METHODS: We examined 43 female and 29 male patients. In this study we looked into the question of whether and to what extent patients of both genders are affected by hearing impairment. RESULTS: Hearing loss is characteristic being more severe at high frequencies frequencies. Overall, 22 female and 15 male patients were found to have suffered a hearing loss. Patients with severe symptoms of Fabry disease usually demonstrate more prominent hearing losses. CONCLUSIONS: Both men and women with Fabry disease are affected by hearing impairment. It seems that the hearing loss is less marked in female than in male patients. Children with Fabry disease complain of tinnitus more frequently than other children and quite early in the course of the disease.

Adolescent↗
PubMed2006

Left-hemispheric dominance for articulation: a prospective study on acute ischaemic dysarthria at different localizations.

Dysarthria is a frequent symptom in cerebral ischaemia. However, speech characteristics of these patients have not previously been investigated in relation to lesion site in a prospective study. We investigated the auditory perceptual features in 62 consecutive patients with dysarthria due to a single, non-space-occupying cerebral infarction confirmed by MRI. Standardized speech samples of all patients were stored within 72 h after stroke onset using a digital tape recorder. Speech samples were assessed independently by two experienced speech therapists, who were unaware of the clinical and neuroradiological findings, using an interval scale ranging from 0 to 6. Separately assessed were features of articulation, phonation, prosody, and the global severity for a total of 31 items. Extracerebellar infarctions (85.5%) were located in the lower motor cortex (14.5%), striatocapsular region (46.8%) and base of the pons (24.2%). Isolated cerebellar infarctions were present in 14.5% of patients. There was a strong correlation between the findings of both examiners, showing identical scores, or only minor differences (<1 on the assessment scale) for 80% of all items. The average severity of dysarthria was 2.9 +/- 1.3. Articulatory abnormalities were the predominant deviation characteristics, affecting in particular the production of consonants. However, phonatory and prosodic abnormalities were also frequently observed speech characteristics. As revealed by factor analysis of speech characteristics the total severity of dysarthria was mainly influenced by the impairment of articulation. Speech parameters describing characteristics of articulation and prosody showed significant side-to-side and area differences, while this effect was lacking for any voice parameter. Left cerebral lesions showed a more severe overall impairment of speech and articulation, independent of lesion topography. Thirty-eight of 62 patients were available for follow-up. Speech evaluation showed normal speech within weeks in 15 out of 38 patients (39.5%). In the other 23 patients overall severity of dysarthria was mild. This is the first prospective study which describes speech characteristics of dysarthria due to acute unilateral cerebral infarctions. We could demonstrate that dysarthria in extracerebellar infarctions was more frequently caused by left-sided lesions and that the severity of dysarthria was more pronounced in left-sided lesions independent from lesion topography. All extracerebellar lesions were located along the course of the cortico-bulbar tract fibres. Compatible with a common pathophysiological basis of dysarthria in these patients, none of the 31 speech items differed significantly between subcortical and brainstem lesions.

Acute Disease↗
PubMed2006

Deficient membrane integration of the novel p.N14D-GJB2 mutant associated with non-syndromic hearing impairment.

Mutations in GJB2, the gene encoding for the Gap Junction protein Connexin 26 (Cx26), have been established as the major cause of hereditary, non-syndromic hearing impairment (HI). We report here the identification of a novel point mutation in GJB2, c.40A>G [p.N14D], detected in compound heterozygosity with the c.35delG mutation in two brothers with moderate non-syndromic sensorineural HI. The mother who carried one wildtype and a p.N14D allele displayed normal hearing. The mutation leads to substitution of the neutral amino acid asparagine (N) by the negatively charged aspartic acid (D) at amino acid number 14, a position that is conserved among Cx26 of different organisms and among many other connexin isoforms. To investigate the impact of this mutation on protein function, Cx26 activity was measured by depolarization activated hemichannel conductance in non-coupled Xenopus laevis oocytes. Oocytes injected with the p.N14D mutant cRNA showed strongly reduced currents compared to wildtype. Coinjection of wildtype and mutant cRNA at equimolar levels restored the conductive properties supporting the recessive character of this mutation. Total Cx26 protein expression and cell surface abundance examined by western blotting and by quantitative immunoassays revealed that the hemichannel was properly synthesized but not integrated into the plasma membrane. In this study we have shown that the GJB2 mutation p.N14D is associated with recessively inherited HI and exhibits a defective phenotype due to diminished expression at the cell surface.

Animals↗
PubMed2006

[Diagnosis and therapy of auditory synaptopathy/neuropathy].

Pathological auditory brainstem responses (lack of responses, elevated thresholds and perturbed waveforms) in combination with present otoacoustic emissions are typical audiometric findings in patients with a hearing impairment that particularly affects speech comprehension or complete deafness. This heterogenous group of disorders first described as "auditory neuropathy" includes dysfunction of peripheral synaptic coding of sound by inner hair cells (synaptopathy) and/or of the generation and propagation of action potentials in the auditory nerve (neuropathy). This joint statement provides prevailing background information as well as recommendations on diagnosis and treatment. The statement focuses on the handling in the german language area but also refers to current international statements.

Brain Stem↗
PubMed2006

Agalsidase alpha and hearing in Fabry disease: data from the Fabry Outcome Survey.

Fabry disease is an X-linked lysosomal storage disorder characterized by multi-organ dysfunction, including hearing loss - mainly sensorineural. The recent introduction of enzyme replacement therapy (ERT) has resulted in improvements in renal and cardiac function, pain and quality of life. One study has also suggested small improvements in high-frequency hearing. In this paper, we study the effect of ERT on hearing in patients in the Europe-wide database - the Fabry Outcome Survey (FOS). Twenty-six patients in FOS had pure-tone audiometry performed up to 6 months before starting ERT with agalsidase alpha and after a median of 12 months of treatment. We assessed changes in hearing thresholds, expressed as deviations from the 50th centile of the normal population (International Organization for Standardization ISO 7029) to correct for age-related non-specific hearing deterioration. Hearing did not change significantly in ears with normal hearing (less than 10 dB deviation from the 50th centile of ISO 7029) or those with severe hearing loss (more than 40 dB deviation from the 50th centile of ISO 7029) at baseline. In ears with a mild or moderate hearing loss at baseline, hearing thresholds, expressed as deviations from the normal 50th centile, improved significantly by 4-7 dB at most frequencies (P < 0.05). Agalsidase alpha stabilizes, and possibly improves, hearing in Fabry patients who have not already progressed to severe hearing loss. Further follow-up of these patients will determine the longer-term effects of ERT.

Adult↗
PubMed2006

Hearing loss in Fabry disease: data from the Fabry Outcome Survey.

Hearing loss is a common symptom in Fabry disease, but neither its natural course nor its aetiology has been defined precisely. The aim of this study was to provide a detailed epidemiological description of hearing impairment in patients in the Fabry Outcome Survey (FOS), which is the largest available database of Fabry patients. Questionnaires were completed by 566 Fabry patients, of whom 316 reported ear-related symptoms. Pure-tone audiograms from 86 patients, performed before starting enzyme replacement therapy, were analysed and compared with age- and sex-specific normal values (International Organization for Standardization, ISO 7029). When compared to an age-matched population (ISO 7029), 74% of patients had a threshold elevated above the 95th centile in at least one tested frequency. All frequencies were affected to a similar degree. However, only 14 patients (16%) were clinically affected by hearing impairment according to the age-independent World Health Organization (WHO) classification (mean threshold at 0.5, 1 and 2 kHz worse than 25 dB). Hearing loss was sensorineural in 63 patients (73%) of whom 7 patients (8%) had also a conductive component. One patient had a purely conductive hearing loss. Episodes of sudden hearing loss seemed to occur more frequently than in the general population. Men were affected earlier and more severely than women. Hearing in Fabry disease is significantly worse than in an age-matched general population but leads to clinically relevant hearing impairment in only 16% of cases. It resembles accelerated presbycusis with an additional Fabry-specific strial-type hearing loss.

Adolescent↗
PubMed2005

[Diagnosis and differentiation of children with language development disorders. What role can be attributed to intelligence?].

BACKGROUND: Specific language impairment (SLI) is defined as a developmental disorder in which language comprehension and the child's ability to use expressive spoken language is markedly below the appropriate level for his or her mental age. The intelligence of SLI children is in the normal range, while their language abilities are impaired. "Normal intelligence", the defining feature of SLI is questioned in this study. PATIENTS AND METHODS: Using IDIS (an inventory of diagnostic information in language impairment), we examined 138 children aged 5 and 6 years with severe language impairment; 108 SLI and 30 LI children. Various indicators of speech and language such as articulation, the ability to discriminate sounds, lexicon, grammar and pragmatic abilities but also auditory and visual perception, auditory and visual memory, fine and gross motor function were assessed. RESULTS: The performance of the SLI children was significantly higher in most of the tests than that of the LI children. Factor analysis showed that the two groups also differed in the structure of performance. Auditory short-term memory was reduced in most children irrespective of intelligence. CONCLUSIONS: We propose the retention of the differentiation of subgroups of developmental speech and language disorders depending on the level of intelligence.

Child↗
PubMed2005

Recurrent laryngeal nerve paralysis (RLNP) following esophagectomy for carcinoma.

BACKGROUND: The aim of this study was to report the frequency of post-operative recurrent laryngeal nerve paralysis (RLNP) following resection for esophageal carcinoma. PATIENTS AND METHODS: Four hundred and four patients were studied. Diagnosis of post-operative RLNP was performed by indirect laryngoscopy. Tumour characteristics, surgical approach and perioperative morbidity and mortality following esophageal resection were recorded. RESULTS: Sixty patients were diagnosed with post-operative RLNP, of whom 47 had a unilateral and 16 a bilateral lesion. RLNP was more frequently diagnosed after transhiatal resection with cervical esophagogastrostomy as compared to abdomino-thoracic resection (p=0.06). A higher rate of post-operative pneumonia was evident in patients with RLNP (33 of 63 as opposed to 90 of 341; p=0.027). CONCLUSION: RLNP is associated with a significant morbidity, especially pulmonary complications after resection of esophageal cancer.

Adult↗
PubMed2004

[Delay in the development of the auditory pathways. A differential diagnosis in hearing impairment in young infants].

BACKGROUND: Due to the increased frequency of screening tests in new-born infants, the number of subsequent examinations of very young children has increased in the Departments of Phoniatrics and Pediatric Audiology. To exclude hearing loss in young children, click stimulated brainstem evoked response audiometry (BERA) and otoacoustic emission tests are, in general, considered to be reliable methods. However, pathologic BERA thresholds and pathologic hearing reactions have been observed occasionally in young infants who show improved and even normal hearing reactions in subjective and objective hearing tests after some months. PATIENTS AND RESULTS: Our group of 14 children (ten female, four male) was initially examined by BERA at the ages of 1-7 months. Twelve children had an elevated risk of hearing loss due to complications in the pre-, peri- and postnatal period. In the BERA, no deafness was diagnosed, but in all children at least monaural pathologic BERA thresholds were observed. Subjective hearing tests confirmed hearing loss. Objective and even subjective hearing reactions improved and normalised within a few months at least monaurally. CONCLUSION: In very young infants, the possibility of a delayed maturation of the auditory pathways must be considered when a hearing loss is diagnosed. Our examples prove that young children with sensorineural hearing loss need more than one objective hearing examination during the first year of life.

Auditory Pathways↗
PubMed2003

[Cogan-I-syndrome. A rare differential diagnosis in progressive sensorineural hearing loss].

We report on two patients affected by Cogan's syndrome since infancy.Cogan's syndrome is described as the association of abrupt or intermittent worsening of vestibulo-auditory function and non-syphilic interstitial keratitis or, in patients with "atypical" Cogan's syndrome, various severe, inflammatory eye diseases. The first patient was affected with different inflammatory eye diseases from her fifth year and became blind in one eye when she was 7 years old. At that time, a deterioration of her hearing ability was also diagnosed. The hearing loss progressed to a severe hearing disorder. The second patient suffered from different inflammatory eye diseases from his second year. When he was 3 years old,he was diagnosed with a severe hearing disorder that progressed.Cogan's syndrome was diagnosed when he was 13 years old. The recognition of Cogan's syndrome is particularly complex in young patients. The difficulty of the diagnosis requires a search for ophthalmic diseases in young children with acute and progressive vestibulo-auditory symptoms.

Acanthamoeba Keratitis↗
PubMed2003

[Acoustic schwannoma with progressive hearing loss in children. A case report].

BACKGROUND: Neurinomas of the vestibulocochlear nerve unrelated to neurofibromatosis in children are extremely rare. Only 20 cases in children under the age of 16 are reported in the literature. Progressive unilateral hearing loss, tinnitus, vertigo and neurological deficits due to cranial nerve or brainstem compression are clinical signs. PATIENT AND RESULTS: We report on the case of a 12-years-old girl with an unilateral hearing loss, progressing to total deafness. Otoacoustic emissions were normal. In the MRI a large cerebellopontine angle tumor was found, identified as schwannoma of the vestibulocochlear nerve. CONCLUSIONS: The importance of MR Imaging in children with progressive unilateral hearing loss is demonstrated in this case.

Brain Stem↗
PubMed2003

Inner ear function in children with Fabry disease.

AIM: The prevalence of hearing loss in patients with Fabry disease is still uncertain. This paper examines hearing loss in a group of young patients with Fabry disease. METHODS: A clinical ear nose and throat examination, pure-tone air and bone conduction audiometry, speech audiometry and middle ear testing (tympanometry and acoustic reflex testing) were carried out in four girls and two boys with Fabry disease (age, 7-17 years), receiving enzyme replacement therapy (ERT). RESULTS: None of the patients complained of a hearing disorder or suffered from hearing loss. Three female patients reported tinnitus; however, this was not reported as being a problem. One boy reported tinnitus for the first time during 6 months of ERT. CONCLUSION: Based on this small sample of patients, it appears that the hearing disorders associated with Fabry disease develop mainly in adulthood. Tinnitus may be an earlier symptom than previously thought in Fabry disease.

Adolescent↗
PubMed2002

[Expert assessment of oropharyngeal dysphagia].

The number of patients with chronic dysphagia is increasing as more patients with neurologic diseases and carcinomas of the head and neck can be successfully treated and survive. The expert assessment of a dysphagia should be based not only on anamnestic data, as proposed by the German guidelines "Anhaltspunkte für die ärztliche Gutachtertätigkeit im sozialen Entschädigungsrecht und nach dem Schwerbehindertengesetz," but also on clinical, endoscopic, and radiologic examinations. Modern procedures of treatment enable us to prevent aspiration or insufficient nutrition; nevertheless, dysphagia causes severe limitations for the patients.

Chronic Disease↗
PubMed2001

Sensory neuropathy of the trigeminal, glossopharyngeal, and vagal nerves in Sjögren's syndrome.

Isolated cranial nerve involvement in primary Sjögren's syndrome (primary SS) has rarely been described. We report the case of a patient with sensory neuropathy of the trigeminal and also the glossopharyngeal and vagal nerves, which has not been identified previously. The electrophysiological findings in our patient with primary SS confirmed trigeminal sensory neuropathy with abnormal blink reflexes and abnormal cutaneous masseter inhibitory reflexes.

Cranial Nerve Diseases↗