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Biomedical subjects

G Rudolph

Publications and source records attributed to G Rudolph.

At least 19 recordsLinked to original sources
PubMed2003

[Anthrax--an old disease becomes topical: cutaneous anthrax and the eye].

BACKGROUND: Anthrax disease and its eye manifestations were rare in the last 100 years, but the threat of terrorist actions has revived its topicality. MATERIALS AND METHODS: After an introductory historical review, the pathogenesis of this disease with regard to the virulence of Bacillus anthracis is reported. On the basis of photos displaying the course of the disease, the symptoms particularly of the cutaneous form of this disease as well as the diagnostic possibilities are described. RESULTS AND CONCLUSIONS: The current status of therapy and research for more effective treatment is discussed, with particular emphasis on the development of new substances with antitoxin properties and better vaccines. Bacillus anthracis is once again an actual threat, and therefore it is necessary for doctors to familiarize themselves with the current knowledge of this infection.

Anthrax↗
PubMed2003

Detecting chloroquine retinopathy: electro-oculogram versus colour vision.

AIM: To investigate the relative sensitivity and specificity of two tests of retinal function (the electro-oculogram (EOG) and a computerised colour vision test) in screening for ocular toxicity caused by chloroquine and hydroxychloroquine. METHODS: 93 patients with rheumatic diseases receiving long term chloroquine and hydroxychloroquine therapy were followed for an average of 2.6 years. Clinical examination, an EOG, and a quantitative test of colour vision were carried out every 6 months. RESULTS: Mild fundus changes were observed in 38 patients. Four patients developed typical bull's eye maculopathy, three of whom had received 250, 365, and 550 g total dose of chloroquine, and one 1500 g of hydroxychloroquine. Statistical analysis of all patients showed that for those with no fundus changes or stippled pigmentation a number showed elevation of tritan threshold, so that if macular stippling is a sign of mild retinopathy the test on tritan changes has a 64% sensitivity and 63% specificity for an upper threshold value of 7%. All four patients with bull's eye lesions showed a marked disturbance of tritan colour vision, with a threshold of 14.8%, a sensitivity of 75%, and a specificity of 94%. For protan colour vision a threshold of 10% gives 75% sensitivity and 91% specificity. By contrast, neither an absolute nor a relative EOG reduction was a valid criterion for early or late chloroquine retinopathy. In advanced retinopathy an Arden coefficient (AQ) <180% yields 50% sensitivity and 54% specificity. When AQ <160% is the threshold, sensitivity does not increase but specificity rises to 82%. Occurrence of marked corneal deposits on clinical examination yields 50% sensitivity and 90% specificity in this situation. CONCLUSION: Screening for chloroquine retinopathy can be improved by using a sensitive colour test. Disturbance of the tritan axis appears to occur first. A normal test result on computerised colour testing virtually excludes any retinopathy by antimalarials. The EOG is of little diagnostic value.

Aging↗
PubMed2002

[Adjustment of eye muscle surgery dosage under drop anaesthesia in patients with Grave's orbitopathy].

BACKGROUND: Motility restrictions of the eye muscles represent a common and serious impairment for patients with Grave's orbitopathy. Various surgical approaches have been developed for the rehabilitation of these patients. In this study 64 patients in which only one of the rectus inferior muscles was recessed are presented. METHOD: The recession was performed using drop anaesthesia. The active cooperation of the patients was necessary for adjustment of the dosage so that undercorrections or more important overcorrections could be prevented. Indications for this recession were a constant diplopia, an abnormal head posture, a pseudoretraction of the upper eyelid or corneal scarring complications. RESULTS: In all patients the squint angle was significantly reduced. A statistical mathematical correlation between the intraoperatively chosen recession length and the reduction of squint angle was found. On the other hand, the variance of the effect of the operation was so large that no dosage recommendations could be made. This operation technique seems to be able to avoid overcorrections (9.3%) for the majority of patients and only a small group of them presented diplopia postoperatively (10.9%). CONCLUSIONS: These results show a good functional rehabilitation of our patients. Performing the operation under drop anaesthesia, while taking into account the motility situation, seems to be a good method in order to manage the dosage problems presenting in this clinical entity.

Anesthesia, Local↗
PubMed2002

[Ocular involvement in nail-patella syndrome (#161200)].

PURPOSE: The "nail-patella syndrome" (NPS) is an autosomal dominant hereditary systemic disease. The underlying defect of the LMX1B gene is localised on chromosome 9q34 and causes various typical clinical signs such as onychodysplasia, patella hypoplasia, renal involvement and open angle glaucoma. PATIENTS: A 42-year-old mother and her 4-year-old son were examined in our hospital in order to exclude ocular involvement in a genetically confirmed "nail-patella syndrome". A clinical examination including corneal topography, gonioscopy as well as measurement of intraocular pressure and bulbus length was performed. RESULTS: The examination of both patients showed NPS-specific symptoms, however the boy revealed no indications of glaucoma. He suffered from marked amblyopia caused by excessive astigmatism of the left eye and a bilateral moderate hyperopia. CONCLUSION: Because of the co-segregation between the syndrome and open angle glaucoma, NPS patients should undergo regular ophthalmological controls including measurement of intraocular pressure. Experiments on mice have shown that mutations of the LMX1B gene result in alterations of several structures of the anterior segments. Thus, the described refraction abnormality could be the consequence of structural changes at the corneal level due to NPS.

Adult↗
PubMed2002

Intestinal absorption and biliary secretion of ursodeoxycholic acid and its taurine conjugate.

BACKGROUND: Ursodeoxycholic acid (UDCA) and its taurine conjugate (TUDCA) exert a protective effect in cholestatic liver diseases. A greater hepatoprotective effect of TUDCA has been suggested. Absorption appears to be a limiting factor and up to now has not been studied in man. METHODS: We studied absorption and biliary bile acid secretion and composition after administration of UDCA and TUDCA in patients who had complete extrahepatic biliary obstruction caused by pancreatic carcinoma but had no intestinal or liver disease. After 5 days of intact enterohepatic circulation eight patients with a percutaneous biliary-duodenal drainage received, during two study periods, 1000 mg (1916.9 micromol; mean 29.6 micromol kg(-1)) TUDCA and 750 mg (1910.4 micromol; mean 29.5 micromol kg(-1)) UDCA in random order. Each patient served as his own control. RESULTS: After UDCA and TUDCA administration the biliary UDCA content increased to 55.2% and 54.6% of total bile acids, respectively (not significant). Biliary secretion of cholic and chenodeoxycholic acids remained unchanged whereas that of lithocholic acid increased slightly. A total of 64.6% of the orally administered TUDCA and 55.1% of the UDCA was absorbed (not significant). After TUDCA administration, biliary UDCA was preferentially (95.4%) taurine-conjugated whereas after UDCA administration biliary UDCA was mainly (79.8%) glycine-conjugated. CONCLUSIONS: After oral administration of TUDCA and UDCA, no significant differences in their absorption and in biliary bile acid secretion exist. Whether biliary enrichment with taurine conjugates of UDCA instead of glycine conjugates offers advantages in the treatment of cholestatic liver disease is unclear at present.

Aged↗
PubMed2001

CNGA3 mutations in hereditary cone photoreceptor disorders.

We recently showed that mutations in the CNGA3 gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We now report the results of a first comprehensive screening for CNGA3 mutations in a cohort of 258 additional independent families with hereditary cone photoreceptor disorders. CNGA3 mutations were detected not only in patients with the complete form of achromatopsia but also in incomplete achromats with residual cone photoreceptor function and (rarely) in patients with evidence for severe progressive cone dystrophy. In total, mutations were identified in 53 independent families comprising 38 new CNGA3 mutations, in addition to the 8 mutations reported elsewhere. Apparently, both mutant alleles were identified in 47 families, including 16 families with presumed homozygous mutations and 31 families with two heterozygous mutations. Single heterozygous mutations were identified in six additional families. The majority of all known CNGA3 mutations (39/46) are amino acid substitutions compared with only four stop-codon mutations, two 1-bp insertions and one 3-bp in-frame deletion. The missense mutations mostly affect amino acids conserved among the members of the cyclic nucleotide gated (CNG) channel family and cluster at the cytoplasmic face of transmembrane domains (TM) S1 and S2, in TM S4, and in the cGMP-binding domain. Several mutations were identified recurrently (e.g., R277C, R283W, R436W, and F547L). These four mutations account for 41.8% of all detected mutant CNGA3 alleles. Haplotype analysis suggests that the R436W and F547L mutant alleles have multiple origins, whereas we found evidence that the R283W alleles, which are particularly frequent among patients from Scandinavia and northern Italy, have a common origin.

Amino Acid Sequence↗
PubMed2001

[LEOPARD syndrome with iris-retina-choroid coloboma. Discordant findings in monozygotic twins (MIM # 151 100)].

INTRODUCTION: The LEOPARD syndrome is an autosomal dominant inherited disease with severe lentiginosis associated with various abnormalities such as electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth and deafness. Ocular manifestations such as coloboma of the iris, the retina and the choroid have not been reported so far. PATIENTS: We report the cases of two 10-year-old identical twins and their mother, showing typical manifestations consistent with the LEOPARD syndrome. Additionally, colobomas of the iris, the retina and the choroid were detected. RESULTS: In addition to the findings typical for the LEOPARD syndrome, we observed unusual ocular abnormalities in all three patients. It represents a discordant phenotype in monozygotic twins. CONCLUSION: LEOPARD syndrome is a disease with multiple alterations and abnormalities. Although ocular malformations seem to be rare, an ophthalmological examination is recommended in order to initiate early visual rehabilitation.

Adult↗
PubMed2001

X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis.

BACKGROUND: Mutations in the OA1 gene on the short arm of the X chromosome are known to cause X-linked ocular albinism (x1OA) in males. A four-generation family with this disorder, including asymptomatic carrier females, was investigated by molecular analysis of the OA1 gene. METHODS: DNA samples were available from 22 individuals of this family, including 6 affected males and 6 obligate carriers. The nine exons of the OA1 gene were amplified and further analyzed by SSCP and sequencing. RESULTS: A detailed clinical examination of the index patient and two female carriers showed the typical signs of ocular albinism. Visual evoked potential responses showed markedly asymmetrical responses from the two hemispheres in the affected person as well as in the carriers, as a result of misrouting and decussation of optic nerve fibers. Molecular genetic analysis demonstrated a previously undescribed 29-bp deletion at position 225-253 in exon 1 of the OA1 gene, which segregated in the family. CONCLUSION: Clinical examination combined with molecular genetic analysis enhances the potential for a precise diagnosis for persons at risk of x1OA and provide an accurate basis for genetic counseling.

Adult↗
PubMed2001

Correlations between motor persistence and plasma levels in methylphenidate-treated boys with ADHD.

Following a 0.9 mg/kg methylphenidate loading dose, serial plasma level determinations, self-scored mood ratings, and measures of motor persistence were gathered on eight previously unmedicated boys with attention deficit disorder with hyperactivity (ADHD) during a 9-h period. The measures were repeated using the same loading dose after 6 months of maintenance treatment with methylphenidate (1.3 mg/kg x d). Kinetic-dynamic modelling suggests inverse correlative relationships between motor performance errors and plasma levels. Pharmacokinetic parameters did not change between acute and maintenance drug treatment phases, and there was no evidence of long-term tolerance.

Adolescent↗
PubMed2001

Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome.

We report on a consanguineous family with 6 children (out of 7) affected by a spondylo-ocular syndrome. Clinical features include cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, immobile spine with thorakal kyphosis and reduced lumbal lordosis. On ophthalmological examination of the index patient, a dense cataract and complete retinal detachment could be detected on the right eye. On the left eye, an absent lens nucleus was found, but no retinal detachment. On radiological examination, there was generalized moderate osteoporosis; the spine showed marked platyspondyly and the bone age was advanced. On laboratory investigations, a normal excretion of amino acids, mucopolysaccharides and oligosaccharides could be found. The phenotypical spectrum observed in the 6 affected individuals was rather uniform. The karyotype was normal in all affected children. This hitherto undescribed combination of oculo-skeletal symptoms shows most resemblance with connective tissue disorders, suggesting a range of candidate genes for mutation analysis.

Abnormalities, Multiple↗
PubMed2001

EFEMP1 is not associated with sporadic early onset drusen.

The early onset of multiple drusen in the posterior pole of the retina is characteristic of a group of macular dystrophies often referred to as dominant or radial drusen. At least two forms, Doyne honeycomb retinal dystrophy (DHRD) and Malattia Leventinese (MLVT), are associated with a single missense mutation (R345W) in the gene encoding the EGF-containing fibulin-like extracellular matrix protein-1 (EFEMP1) and are now thought to represent a single entity. Here, we present a further evaluation of the role of EFEMP1 in the pathogenesis of sporadic forms of early onset drusen. We analyzed all coding exons of the EFEMP1 gene by SSCP analysis in 14 unrelated individuals with early onset of multiple drusen and no apparent family history of the disease. In this patient group, we did not detect the R345W mutation or any other disease-associated mutation. Three different polymorphisms and two intragenic polymorphic repeats were present in similar frequencies in the patients and control individuals. We conclude that EFEMP1 is unlikely to be involved in the disease in this patient group. This suggests that mutations in a different as yet unknown gene or genes may lead to the early onset drusen phenotype.

Adult↗
PubMed2000

Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.

Lowe oculocerebrorenal syndrome (OCRL) (MIM 309000) is a rare X-linked multisystem disorder characterized by congenital cataracts, muscular hypotonia, areflexia, mental retardation, maladaptive behavior, renal tubular dysfunction, vitamin-D-resistant rickets, and scoliosis. The underlying gene OCRL1 is located on chromosome Xq25-q26 and contains 24 exons. It encodes a 105-kDa phosphatidylinositol 4,5-bisphosphate (PtdIns[4,5]P(2)) 5-phosphatase that is localized to the Golgi complex. To confirm the clinical diagnosis and to assess the carrier state of female relatives for genetic counseling we examined 6 independent patients and their families (a total of 23 individuals) using an improved mutation screening strategy for the OCRL1 gene by sequencing of large PCR amplicons. Four novel and two known mutations were identified: three premature terminations caused by either frameshift mutations (1899insT in exon 17 and 2104-2105delGT in exon 18) or a nonsense mutation (1399C > T in exon 12), two missense mutations (1676G > A and 1754C > T in exon 15), and a 6-bp deletion (1609-1614delAAGTAT in exon 14). An ophthalmological examination was performed in all patients and 14 female relatives. All genotypically proven carrier females showed characteristic lenticular opacities, while all proven noncarriers were lacking this phenotypic finding. The results confirm that ophthalmological evaluation is an apparently reliable first-line method to ascertain the carrier state in Lowe oculocerebrorenal syndrome. The high expressivity of lenticular symptoms in OCRL1 gene carriers is consistent with the hypothesis that (PtdIns[4,5]P(2)) 5-phosphatase activity has low functional reserve capacity for maintaining a balanced homeostasis of lenticular metabolism.

Adolescent↗
PubMed2000

[Transnasal anchor suture for facilitating silicone tube intubation in deep congenital nasolacrimal duct stenosis].

BACKGROUND: In silicone intubation of the nasolacrimal duct for congenital obstruction, retrieval of the guide thread behind the inferior turbinate can be difficult and time consuming. To facilitate this maneuver a modification of the conventional technique has been developed. PATIENTS AND METHOD: In the conventional technique, a hollow probe was inserted into both lacrimal puncti and pushed downward into the nasal cavity. A guide thread was forwarded into the pharynx. Using the same hollow probe, a third guide thread was inserted transnasally and also forwarded into the pharynx. These three threads were pulled out of the pharynx transorally and tied together. Pulling on the nasal aspect of the transnasal guide brought all guides back into the pharynx and out of the nose. The intubation was completed in the conventional way. RESULTS: The new method was evaluated in 13 children. With the conventional technique the mean duration of the operation was 35 min, but the time required varied greatly among individuals due to retrieval of the guides. In contrast, no guide retrieval problem occurred using the new technique, and the average duration was reduced to 25 min. No adverse effect was observed. CONCLUSION: Using a simple modification, difficulties with the retrieval of the guide thread could be avoided, thus facilitating the procedure of nasolacrimal duct intubation and reducing its duration.

Child↗
PubMed2000

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.

Recently, the VMD2 gene has been identified as the causative gene in juvenile-onset vitelliform macular dystrophy (Best disease), a central retinopathy primarily characterised by an impaired function of the retinal pigment epithelium. In this study we have further characterised the spectrum of VMD2 mutations in a series of 41 unrelated Best disease patients. Furthermore we expanded our analysis to include 32 unrelated patients with adult vitelliform macular dystrophy (AVMD) and 200 patients with age-related macular degeneration (AMD). Both AVMD and AMD share some phenotypic features with Best disease such as abnormal subretinal accumulation of lipofuscin material, progressive geographic atrophy and choroidal neovascularisation, and may be the consequence of a common pathogenic mechanism. In total, we have identified 23 distinct disease-associated mutations in Best disease and four different mutations in AVMD. Two of the mutations found in the AVMD patients were also seen in Best disease suggesting a considerable overlap in the aetiology of these two disorders. There were no mutations found in the AMD group. In addition, four frequent intragenic polymorphisms did not reveal allelic association of the VMD2 locus with AMD. These data exclude a direct role of VMD2 in the predisposition to AMD.

Adolescent↗