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H Kunst

Publications and source records attributed to H Kunst.

At least 19 recordsLinked to original sources
PubMed2006

Nontuberculous mycobacterial disease and Aspergillus-related lung disease in bronchiectasis.

The aim of the present study was to determine whether patients with bronchiectasis and nontuberculous mycobacteria (NTM) have a higher prevalence of Aspergillus-related lung disease. A series of 30 consecutive patients with bronchiectasis and NTM (cases) were compared with 61 patients with bronchiectasis and no evidence of NTM (controls). Aspergillus serology and computerised tomography of the thorax were used to identify Aspergillus-related lung diseases, including aspergilloma, allergic bronchopulmonary aspergillosis and chronic necrotising pulmonary aspergillosis. The rate of positive Aspergillus serology was higher in cases with NTM disease compared with controls (10 out of 30 versus six out of 61). The radiological features of Aspergillus-related lung disease were also more common among patients with NTM disease than controls (six out of 30 versus none out of 61). This association between NTM disease and Aspergillus-related lung disease remained significant after adjustment for confounding effects of age and lung function (adjusted odds ratio 5.1, 95% confidence interval 1.5-17.0). Patients with bronchiectasis and nontuberculous mycobacterial disease have a higher prevalence of coexisting Aspergillus-related lung disease than patients with bronchiectasis and without nontuberculous mycobacteria. Identification of Aspergillus-related lung disease is important as prognosis amongst undetected cases is invariably poor.

Aged↗
PubMed2006

Interferon-gamma therapy in two patients with progressive chronic pulmonary aspergillosis.

Infection by Aspergillus species causes a wide spectrum of pulmonary disease in humans. In two patients with semi-invasive Aspergillus-induced lung disease, significantly reduced levels of interferon-gamma secretion by peripheral blood mononuclear cells were found after in vitro stimulation with the T-cell mitogen phytohaemagglutinin. Despite anti-fungal therapy, both patients exhibited progressive disease, and adjunctive interferon-gamma therapy was associated with significant clinical improvement. The data suggest that impaired production of interferon-gamma can be seen in patients with chronic pulmonary aspergillosis. Adjunctive cytokine therapy with interferon-gamma may be useful in patients with progressive disease despite adequate anti-fungal therapy.

Adult↗
PubMed2004

Hypertension as a marker for later development of end-stage renal failure after lung and heart-lung transplantation: a cohort study.

BACKGROUND: Time to renal failure after transplantation is not well known and the prognosis of lung and heart-lung transplantation with respect to end-stage renal failure and related factors has not been investigated in detail. We determined the predictors of end-stage renal failure after lung or heart-lung transplant using multivariate analysis. METHODS: A cohort study of 115 adult patients transplanted between 1990 and 1995, who survived at least 5 years, was carried out. Characteristics and clinical findings, including blood pressure, creatinine clearance and immunosuppression levels of patients with end-stage renal failure, were compared with those without, initially in a univariate analysis. Then a multivariate logistic regression model was built to examine the association of predictor variables with end-stage renal failure after adjustment for confounding. RESULTS: There were 19 of 115 (16.4%) patients with end-stage renal failure, with an average time of loss of renal function of 7.6 years (95% confidence interval [CI] 6.5 to 8.7) after transplantation. There was no difference in survival between patients with end-stage renal failure and those without. Multivariate analysis showed that development of hypertension post-operatively was the only significant predictor variable (odds ratio 8.16, 95% CI 1.01 to 66.0, p = 0.04). Patients' age at transplantation, gender, underlying medical conditions and other post-transplant features were not associated with end-stage renal failure. CONCLUSIONS: Development of hypertension after lung or heart-lung transplant should be used a marker for later development of end-stage renal failure. Any hypertension should be treated energetically. Acute renal failure immediately post-operatively did not predict end-stage renal failure in this cohort of patients.

Adult↗
PubMed2001

Bacterial endocarditis: a rare complication following orthotopic cardiac transplantation.

We describe a 46-year-old man who developed infective endocarditis, meningitis, sternal abscess, and infective cerebral emboli after cardiac transplantation. Staphylococcus aureus was the infective organism. We successfully managed the patient with flucloxacillin and fusidic acid to treat infection, and with prostacyclin for systemic embolization.

Cyclosporine↗
PubMed2001

Social phobia as a comorbid condition in sex offenders with paraphilia or impulse control disorder.

Studies on the prevalence of social anxiety in sex offenders show mixed results. This may be due to social anxiety being heightened only in diagnostic subgroups of sex offenders, namely in paraphiliacs. In study 1, 72 mentally disordered sexual delinquents and 30 controls were screened for social anxiety with the Social Interaction Anxiety Scale and the Social Phobia Scale by Mattick and Clarke (German versions). In study 2, 55 mentally disordered sexual delinquents were diagnosed with a structured clinical interview. In both studies, sex offenders were categorized as either paraphilic or impulse control disordered (without paraphilia) according to research criteria. Study 1 showed markedly heightened scores for social anxiety in paraphiliacs, particularly for social interaction anxiety. Study 2 found a high lifetime and point prevalence of social phobia in paraphiliacs for which corroborating evidence was again found in questionnaire results. Implications for further research, diagnostic procedures, and therapy are discussed.

Adult↗
PubMed2000

The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.

OBJECTIVE: To study nonsyndromic progressive sensorineural hearing impairment in patients with a COL11A2 mutation (DFNA13) in a Dutch kindred. STUDY DESIGN: Survey. SETTING: Department of otorhinolaryngology of a university hospital. PATIENTS: Twenty-one living members of a Dutch family (150 relatives in 5 generations; 49 were studied) with autosomal dominant nonsyndromic sensorineural hearing impairment showed linkage to the DFNA13 locus. Mutation analysis revealed a missense mutation in the COL11A2 gene. METHODS: History was taken, hearing threshold levels were measured in all affected persons, and penetrance was evaluated. Longitudinal analysis (using linear regression analysis of threshold-on-age data) was possible in only 1 case. Cross-sectional analysis comprised the comparison of threshold levels between different generations of the family. Also, hearing thresholds were corrected for median presbyacusis to find out whether the hearing impairment characteristic of this trait is stationary or progressive. Vestibular functions were evaluated with electronystagmography, by use of rotatory and caloric tests. RESULTS: Most of the affected persons dated their first hearing impairment symptoms to the second to third decade of life. A possibly reduced penetrance was found. Anamnestically, 4 affected persons had hearing impairment symptoms from early childhood onward. Longitudinal analysis in the proband (IV26) revealed the exceptional combination of congenital offset and substantial early progression. Most of the threshold levels differed significantly between the frequencies within each age group and, at the high frequencies (2-8 kHz), between the two age groups covered by generations IV and III (ages 30-38 years and 58-74 years, respectively); the latter could be attributed to presbyacusis. Various caloric abnormalities, including areflexia, were found in about half (8/17) of the tested subjects with sensorineural hearing impairment. CONCLUSIONS: Correction for age, hearing impairment-presumably present and stationary from an early age onward-showed the worst or second-worst threshold usually at 1, 2, and 6 kHz (3540 dB) or 8 kHz (50 dB), whereas the best or second-best threshold was found at 0.25 to 0.5 and 4 kHz (25 dB). Presbyacusis, presumably from the fourth decade of life onward, caused a change of the typically shaped audiogram described as midfrequency hearing impairment with additional high-frequency impairment.

Adult↗
PubMed2000

Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21).

An autosomal dominant trait of progressive, non-syndromic, non-specific mid-frequency sensorineural hearing impairment was identified in a Dutch family. Many affected family members (n = 21) were identified, among whom seven out of nine relatives aged < 30 years do not show pure mid-frequency hearing impairment, which suggests variable expression. Regression analysis was used to evaluate the age-related hearing threshold data in a cross-sectional analysis in 24 affected patients and in a longitudinal analysis in five of these. At all frequencies, progression in hearing impairment (i.e. the regression coefficient) was significant and fairly similar: the pooled value was about 1.0 dB/y. There was no significant (i.e. not =0 dB) offset threshold (i.e. Y intercept at age 0) found at any frequency. The regression lines could be pooled for the low frequencies (0.25-0.5 kHz) and the mid/high frequencies (1-8 kHz) and this produced apparent onset ages of about 3 and 4 years and annual threshold increases of 0.75 and 1.1 dB/y, respectively. In most patients there is a relatively late onset age (maximum in the range of at least 25-45 years). However, based on the longitudinal analysis of a patient from the age of 4 years onwards in some patients sensorineural hearing impairment might be congenital/prelingual. Oculo-vestibular function was found to be normal. Results from linkage studies tentatively position the underlying gene defect telomeric to the repositioned DFNA13 locus at chromosome 6p21-22.

Adult↗
PubMed2000

Predisposing factors for recurrent skin ulcers in leprosy.

This study was designed to determine the factors associated with recurrence of leprosy ulcers. Between April and August 1992, 55 consecutive leprosy patients admitted with skin ulcers were studied. Factors predisposing to recurrence, e.g. patient's age, disease duration, ulcer site, ulcer depth and physical deformity (taking into account neuromuscular and skeletal damage) were evaluated. Ulcer recurrence occurred in 40/55 (75%) patients. Recurrent ulceration was associated with location in the lower extremity (P = 0.02), where recurrences were more common in the midfoot and heel (P = 0.01). Recurrence was also associated with severity of physical deformity (P = 0.01), which increased the odds of recurrent ulceration by 4.2 times (95% confidence interval, 1.01-18.3). The severity of physical deformity itself was associated with the age of the patient (P = 0.04) and the disease duration (P = 0.02). In conclusion, there is a need to focus on identification of risk factors for recurrent leprosy ulceration. Targeted prevention strategies would be required if morbidity associated with recurrent skin ulceration is to be avoided.

Adult↗
PubMed2000

Relationship of skin ulcers and physical deformity with employment status and compliance with health promotion in leprosy.

OBJECTIVE: To determine if recurrence of ulcers and physical deformity in leprosy is associated with employment status and compliance with health promotion advice. METHODS: Between April-August 1992, a cohort of 55 consecutive leprosy patients admitted with skin ulcers were studied for ulcer recurrence, physical deformity (taking into account neuromuscular and skeletal damage), employment status, compliance with health promotion advice and knowledge of the disease. RESULTS: High grade physical deformity was present in 34/55 (62%) patients while recurrent ulceration occurred in 40/55 (75%) patients. With regard to employment status, the odds of high grade physical deformity were significantly higher for street traders and unemployed compared to semiskilled and skilled workers (odds ratio 4.2, 95% confidence interval 1.01-19.8, p = 0.03). There was a trend of higher odds of recurrence of ulcers for street traders and unemployed compared to semiskilled and skilled workers (odds ratio 2.3, 95% confidence interval 0.5-9.4, p = 0.2). With regard to health promotion, there was poor compliance with advice about protective footwear and care of insensitive extremities. Level of knowledge about the disease and its prevention was also inadequate. CONCLUSION: Physical deformity was associated with lack of reasonable employment among leprosy patients. There was poor compliance with preventative advice. Health promotion strategies should be directed toward targeted health education and prevention of physical deformities.

Adult↗
PubMed1999

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

We have previously found linkage to chromosome 1p34 in five large families with autosomal dominant non-syndromic hearing impairment (DFNA2). In all five families, the connexin31 gene ( GJB3 ), located at 1p34 and responsible for non-syndromic autosomal dominant hearing loss in two small Chinese families, has been excluded as the responsible gene. Recently, a fourth member of the KCNQ branch of the K+channel family, KCNQ4, has been cloned. KCNQ4 was mapped to chromosome 1p34 and a single mutation was found in three patients from a small French family with non-syndromic autosomal dominant hearing loss. In this study, we have analysed the KCNQ4 gene for mutations in our five DFNA2 families. Missense mutations altering conserved amino acids were found in three families and an inactivating deletion was present in a fourth family. No KCNQ4 mutation could be found in a single DFNA2 family of Indonesian origin. These results indicate that at least two and possibly three genes responsible for hearing impairment are located close together on chromosome 1p34 and suggest that KCNQ4 mutations may be a relatively frequent cause of autosomal dominant hearing loss.

Amino Acid Sequence↗
PubMed1999

A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.

Non-syndromic hearing impairment is one of the most heterogeneous hereditary conditions, with more than 40 reported gene localisations. We have identified a large Dutch family with autosomal dominant non-syndromic sensorineural hearing impairment. In most patients, the onset of hearing impairment is in the first or second decade of life, with a slow decline in the following decades, which stops short of profound deafness. The hearing loss is bilateral, symmetrical, and only affects low and mid frequencies up to 2000 Hz. In view of the phenotypic similarities of this family with an American family that has been linked to chromosome 4p16.3 (DFNA6), we investigated linkage to the DFNA6 region. Lod score calculations confirmed linkage to this region with two point lod scores above 6. However, as haplotype analysis indicated that the genetic defect in this family is located in a 5.6 cM candidate region that does not overlap the DFNA6 region, the new locus has been named DFNA14.

Adolescent↗
PubMed1998

Nonsyndromic autosomal dominant progressive sensorineural hearing loss: audiologic analysis of a pedigree linked to DFNA2.

An analysis was performed of the regression of the individual hearing threshold on age in the affected persons in a six-generation Dutch family with nonsyndromic autosomal dominant sensorineural hearing loss, which showed linkage to the DFNA2(1p34) region, similar to at least four previously reported nonrelated families. The offset threshold was significantly higher at the high frequencies (around 30 dB at 2 to 8 kHz) than at the lower ones (approximately 0 dB at 0.25 to 1 kHz). Hearing impairment at the higher frequencies may therefore have been present already at birth or in early childhood. The regression coefficient, or the 'annual threshold increase,' expressed in dB/y, was about 1 dB/y on average, but the higher frequencies (1 to 8 kHz) showed significantly more rapid progression than the lower frequencies (0.25 to 0.5 kHz).

Aging↗
PubMed1997

Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.

Thus far, 13 genes for autosomal dominant hearing loss have been localized to specific chromosomal regions, but none of the genes has been cloned. Only a single family has been linked to each of these loci, with the exception of DFNA2. DFNA2 was originally mapped in two extended families originating from Indonesia and the United States. In this study we report linkage to DFNA2 in three additional large families with autosomal dominant hearing loss from Belgium and The Netherlands. These five DFNA2 families show a similar progressive sensorineural hearing loss, starting in the high frequencies and also affecting the middle and low frequencies later in life. Combining the information from all linked families, the candidate region that is most likely to contain the DFNA2 gene was reduced to a 1.25-Mb region between markers D1S432 and MYCL1. Different haplotypes segregating with the hearing loss were found in all five families, suggesting that different mutations are present in the same gene. These results indicate that DFNA2 is most likely an important gene for autosomal dominant hearing loss.

Alleles↗
PubMed1997

Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2.

OBJECTIVE: To study nonsyndromic progressive sensorineural hearing loss (SNHL) with significant linkage to the DFNA2 locus on chromosome 1p in a Dutch kindred. DESIGN: A 6-generation family with 194 family members was studied. Of the presumably affected persons, 43 were examined in detail to obtain audiograms and 37 underwent vestibulo-ocular examination. RESULTS: Regression analysis showed significant and equal linear progression in SNHL with age (by about 1 dB per year) at all frequencies. Offset values were close to zero at the low frequencies (0.25, 0.5, and 1 kHz) but increased systematically with the frequency. It is likely that they represent congenital high-frequency SNHL: about 15 dB at 2 kHz, 30 dB at 4 kHz, and 50 dB at 8 kHz. Bilateral caloric weakness was not observed. A significant finding was that 25% to 35% (depending on the exclusion criteria) of the patients showed an increased vestibulo-ocular reflex (hyperreactivity) as measured by rotatory responses. Forty-one patients showed significant linkage to the 1p locus. CONCLUSIONS: Including the present family, 4 families have been reported to show linkage to chromosome 1p. Statistical analysis of the audiological data shows a progression of 1 dB per octave per year in this type of progressive SNHL.

Adult↗
PubMed1978

[Toxic rhabdomyolysis after alcohol and drug intoxications (author's transl)].

The clinical picture of toxic rhabdomyolysis after alcohol and drug intoxications is characterized by severe pain, swelling, and inability to move the affected muscle group. The disintegration of necrotic muscle tissue leads to hyperkalaemia, excessive increase of creatine kinase in serum, and a myorenal syndrome with anuria. Pathogenetically the combined effects of toxic vascular damage and local pressure and cold influence are assumed to occur. In anuria, resistant to conventional medication, early and repeated plasma exchanges are considered to be a therapeutic alternative to haemodialysis.

Adult↗