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Biomedical subjects

R Michaelis

Publications and source records attributed to R Michaelis.

At least 19 recordsLinked to original sources
PubMed2003

[European Association of Urology guidelines on urinary and male genital tract infections].

Today, the classical bacteria that cause venereal diseases, e.g. gonorrhea, syphilis, chancroid and inguinal granuloma, only account for a small proportion of all known sexually transmitted diseases (STDs). Other bacteria and viruses as well as yeasts, protozoa and epizoa must also be regarded as causative organisms of STD. Taken together, all sexually transmitted infections comprise more than 30 relevant STD pathogens. However, not all pathogens that can be sexually transmitted manifest diseases in the genitals and not all infections of the genitals are exclusively sexually transmitted. Concise information and tables summarising the diagnostic and therapeutic management of STDs in the field of urology allow a synoptic overview, and are in agreement with the recent international guidelines of other specialist areas. Special considerations (i.e. HIV infection, pregnancy, infants, allergy) and recommended regimens are presented.

Disease Notification↗
PubMed1998

Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.

A 1.5 Mb duplication on chromosome 17p11.2 is typical for the great majority of patients suffering from Charcot-Marie-Tooth type 1A (CMT1A) disease. A female child of 4 years with clinical signs and symptoms of a demyelinating neuropathy was examined for the presence of this duplication. Analysis of MspI polymorphisms in DNA extracted from peripheral blood failed due to homozygosity for probes pVAW409R3a and pEW401HE. Also, no EcoRI/SacI 3.2 kb junction fragment or dosage difference with probe pLR7.8, characteristic of the CMT1A duplication, was found. However, fluorescence in situ hybridization (FISH) analysis with the PMP22 specific probe c132G8 revealed in peripheral blood lymphocytes 60% of interphase nuclei with CMT1A duplication indicating the probability of mosaicism. In interphase nuclei extracted from nerve tissue the duplication was detectable in 88%, in muscle tissue in 72% of the analyzed nuclei. This suggests the presence of a somatic CMT1A duplication mosaicism that can only be reliably detected by FISH. The early onset and severity of the phenotype indicates that the hypothesized somatic reversion is probably fixed to early developmental stages.

Age of Onset↗
PubMed1996

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.

Prader-Willi syndrome (PWS) results primarily from either a paternal deletion of 15q11-q13 or maternal uniparental disomy (UPD) 15. Birth parameters and clinical presentation of 79 confirmed UPD cases and 43 deletion patients were compared in order to test whether any manifestations differ between the two groups. There were no major clinical differences between the two classes analyzed as a whole, other than the presence of hypopigmentation predominantly in the deletion group. However, there was a significant bias in sex-ratio (P < .001) limited to the UPD group with a predominance (68%) of males. An equal number of males and females was observed in the deletion group. When analyzed by sex, several significant differences between the UPD and deletion groups were observed. Female UPD patients were found to be less severely affected than female deletion patients in terms of length of gavage feeding and a later onset of hyperphagia. Although these traits are likely to be influenced by external factors, they may reflect a milder presentation of female UPD patients which could explain the observed sex bias by causing under-ascertainment of female UPD. Alternatively, there may be an effect of sex on either early trisomy 15 survival or the probability of somatic loss of a chromosome from a trisomic conceptus.

Age Factors↗
PubMed1995

Bilateral spastic cerebral palsy--a collaborative study between southwest Germany and western Sweden. III: Aetiology.

In this third report from the collaborative study of children with bilateral spastic cerebral palsy born between 1975 and 1986, aetiology was analysed. Evidence for a prenatal aetiology increased with gestational age, whereas evidence for a peri-/neonatal aetiology decreased. The largest subgroup, the leg-dominated subtype, showed the same distribution of aetiology as the total group. A prenatal aetiology was found mainly among term and moderately preterm children with a four-limb-dominated subtype; a peri-/neonatal aetiology among very preterm children with a three- or four-limb-dominated subtype or among term children with a dyskinetic-spastic subtype. The findings support the hypothesis generated from the authors' epidemiological results of a peri-/neonatal aetiology being predominant among preterm, and a prenatal aetiology among term, children with bilateral spastic cerebral palsy.

Cerebral Palsy↗
PubMed1995

Bilateral spastic cerebral palsy--MRI pathology and origin. Analysis from a representative series of 56 cases.

MRI of the brain was performed on 56 children with bilateral spastic cerebral palsy (CP) at a mean age of 10.7 years. Specific pathology was found in 91 per cent; periventricular leukomalacia was present in 42 per cent of term- and 87 per cent of preterm-born children. Parasagittal subcorticocortical injury, multicystic encephalomalacia and basal ganglia lesions were identified in 16 per cent, in all but one associated with severe peri-/neonatal events at term or near term. Maldevelopment comprised 9 per cent, all but one found in term-born children. MRI morphology correlated strikingly with outcome. Periventricular leukomalacia was associated with more severe disability in term- than preterm-born children.

Adolescent↗
PubMed1994

Antiphospholipid antibodies in cerebrovascular ischemia and stroke in childhood.

We report on eight children who suffered from cerebrovascular ischemia or stroke at the age of 2 or up to 11 years. Antiphospholipid antibodies (APLA) were detected in two cases during the ischemic event and in six cases during follow-up examinations (after six weeks or within a span of six years). In two patients multiple stenoses of basal cerebral arteries were found; one of them suffered from moyamoya syndrome. The acute hemiplegia in one patient was linked to an asymptomatic mycoplasmal infection and APLA. In three cases, one of the parents was also APLA-positive. Seven patients were treated with acetylsalicylic acid, and in four cases immunoglobulin infusions were given. Transient ischemic attacks subsided after the child with the moyamoya syndrome received immunoglobulins. No effect of medication could be established in the other children. The concept of the antiphospholipid syndrome is still evolving. As none of the common risk factors pertaining to strokes in adults apply to children, pediatric research may offer a suitable platform for specific investigations on the causal, pathogenetic role of APLA. We propose that all children suffering from stroke or transient ischemic attacks should be tested for APLA.

Antibodies, Antiphospholipid↗
PubMed1994

Congenital hemiparesis and periventricular leukomalacia: pathogenetic aspects on magnetic resonance imaging.

The authors report on the clinical examination and magnetic resonance imaging (MRI) of 41 children (29 term and 12 preterm) whose diagnosis of congenital hemiparesis was confirmed after the first year of life. Periventricular leukomalacia was the most predominant MRI finding (found in 15 term and eight preterm infants). The uniform pattern of lesions observed through MRI (without clear correlation with gestational age) suggests a common aetiopathogenesis in this subgroup. Comparison of these MR images with the periventricular leukomalacia observed in preterm children with spastic diplegia supports the thesis that ischaemia occurring between the 28th and 35th weeks of gestation could be the main cause.

Adolescent↗
PubMed1994

Bilateral spastic cerebral palsy--a comparative study between southwest Germany and western Sweden. II: Epidemiology.

Epidemiological data of a collaborative study on children with bilateral spastic cerebral palsy (BSCP) between south-west Germany and western Sweden are reported. The study period covered the birth years 1975 to 1986. Overall, the rate of BSCP increased during the birth year periods 1975-77 and 1978-80, but decreased thereafter. The rise was due to an increase of BSCP in low-birthweight (LBW) children, especially very LBW (VLBW) children. Mortality rates in LBW, and particularly VLBW, children decreased significantly during the whole study period in both countries. The BSCP rate, after the initial increase, showed a decrease during the second half of the study period in LBW children. Results are interpreted in favour of a predominantly prenatal aetiology in normal-birthweight and of a predominantly peri- and neonatal aetiology in LBW children.

Cerebral Palsy↗
PubMed1994

[Early indications for partial learning disorders--anamnestic and diagnostic strategies].

A surprisingly small amount of information exists about early symptoms of learning disorders becoming evident during the first years at school. Only one relation seems to carry some degree of reliability: Early language deficits and/or retardation of language acquisition and later learning disorders including dyslexia. Because of these limitations, a more pragmatic approach is recommended. Questionnaires can be used asking for specific and age-related skills, involving the existence and good functioning of strategically working and concept-building central structures. Children with deficits in these structures will develop and experience dysfunctions in their cognitive, social and motor abilities. Consequently, they present behavioural problems. Children whose questionnaires offer suspicion in respect of specific dysfunctions should be tested by means of structured play tests or by appropriate developmental tests, to determine their individual patterns of talents and specific shortcomings. An early therapeutic intervention, aimed at the child's specific and individual deficits, may prevent or reduce learning problems at school.

Child↗
PubMed1993

Demonstration of giant MCA aneurysm by transcranial duplex sonography and color Doppler imaging.

Transcranial color Doppler sonography is a new diagnostic technique which allows real-time, color-coded imaging of basal cerebral arteries, with simultaneous demonstration of parenchymal structures in the B-mode scan. With this technique we were able noninvasively to show a giant fusiform aneurysm of the middle cerebral artery (MCA) in an 11-year-old boy. Transcranial color Doppler sonography through the intact temporal bone demonstrated the size and location of the aneurysm and provided real-time imaging of the pulsating intra-aneurysmal flow. Additionally, duplex sonographic measurements of intravascular flow velocities within the aneurysm and the feeding and draining artery were possible. Postoperatively, patency of the MCA with reduced flow velocities after excision of the aneurysm could be shown. This is the first transcranial color Doppler report in a patient with an intracerebral aneurysm. In our opinion, transcranial color Doppler sonography offers new diagnostic possibilities in patients with cerebrovascular disorders.

Blood Flow Velocity↗
PubMed1993

Transitory neurological findings in a population of at risk infants.

Two-hundred fifty infants with high and no risk history transitory neurological findings (TNF) were examined during the first year of life. The neurological situation and the developmental progress were reconsidered in these children at 2.5-4.5 and 5-7 years of age. TNF were diagnosed mainly during the first two trimesters. Hyperirritability and asymmetries resolved to about 70% during the first half of the first year of life. In contrast, isolated central hypotonia resolved over a much longer period. No correlations of distinct types of TNF could be found with VLBW and LBW-infants, with fullterm infants, with birthweights, nor with risk factors. Children who developed spastic CP presented permanent hypertonia beside other specific neurological symptoms during the second half of the first year of life. Children with lasting non-spastic handicaps showed permanent hypotonia combined with other neurological abnormalities and symptoms of psychomotor retardation, which evolved also during the second half of the first year. From these results the question arises: which parts of TNF are essentially neurobiological findings indicating processes of transformation of the sensory motor system from non-intentional fetal to intentional motor behaviour of early infancy. TNF, then, should not longer be looked at as symptoms of pathological value only.

Birth Weight↗
PubMed1993

Bilateral spastic cerebral palsy--a comparative study between south-west Germany and western Sweden. I: Clinical patterns and disabilities.

The results of a collaborative study of bilateral spastic cerebral palsy (BSCP) between south-west Germany and western Sweden are reported, comprising 249 children in south-west Germany and 264 children in western Sweden. A severe gross motor disability was present in 65 per cent of the German and 62 per cent of the Swedish children; learning difficulties or mental retardation in 73 and 76 per cent; active epilepsy in 28 and 26 per cent; and severe visual disability in 20 and 19 per cent, respectively. Severe disabilities were especially pronounced in children with normal birthweights, in whom the most severe subtypes of BSCP were also found. Leg-dominated BSCP was the predominant subtype among low-birthweight children, but also occurred in more than half of the normal-birthweight children. The authors conclude that the two series were comparable, and that reliable results between countries can be obtained if clear-cut classifications and definitions are used.

Adolescent↗
PubMed1992

Bilateral spastic cerebral palsy--pathogenetic aspects from MRI.

Thirty eight children with bilateral spastic cerebral palsy underwent MRI at the age of 5 years and more. Twenty nine showed correlates of periventricular leucomalacia, which were found especially in preterms (20 out of 21) but also in 9 of 15 fullterms without birth asphyxia. These findings suggest compromising events in the peri- and neonatal period especially in preterms and prenatal 3rd trimenon compromise in most of the fullterms without birth asphyxia.

Adolescent↗
PubMed1989

The Rett syndrome: magnetic resonance imaging and clinical findings in four girls.

The clinical and laboratory findings in 4 girls with the Rett syndrome are presented. The MRI results at different disease stages with detailed descriptions of the techniques applied-including quantification of T1 and T2 relaxation times in the brain-are reported. There were no pathological signal intensities in T1- or T2-weighted images. Thus, MRI does not provide any significant additional help in the diagnosis of the Rett syndrome. However, it does indicate that disturbances of myelinization or the brain water content are not probable etiologies in this syndrome.

Adolescent↗
PubMed1989

Hypomelanosis of Ito--report of four cases and survey of the literature.

Four cases of hypomelanosis of Ito with typical skin depigmentation and various noncutaneous findings were described. This neurocutaneous syndrome has been well documented by clinical investigations, especially computerized tomography and magnetic resonance imaging of the brain. The literature is surveyed giving special consideration to related neurologic manifestation. The most frequent neurologic abnormality was psychomotor retardation. Hearing loss in two patients and varicosis in one patient was striking. In one more patient, the symptoms resembled neurodegenerative disease.

Adolescent↗