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Biomedical subjects

F Hanefeld

Publications and source records attributed to F Hanefeld.

At least 127 records · Page 7Linked to original sources
PubMed1988

A new chromosomal instability disorder confirmed by complementation studies.

Two sisters with a complex clinical pattern, including microcephaly, microgenia, defects of skin pigmentation, anal stenosis/atresia, and combined immunodeficiency together with spontaneous chromosomal instability and cellular hypersensitivity to X-rays and bleomycin are described. Complementation studies on heterokaryons proved that the underlying genetic defect is non-allelic with that of patients with ataxia telangiectasia (complementation groups AB-E) and the Nijmegen breakage syndrome, but identical with the case described by Conley et al. (1986).

Ataxia Telangiectasia↗
PubMed1987

Genetic linkage study between the loci for Duchenne and Becker muscular dystrophy and nine X-chromosomal DNA markers.

A set of nine polymorphic loci defined by DNA probes was studied for linkage with the disease locus in ten families with a history of Duchenne muscular dystrophy (DMD), and three families with a history of Becker muscular dystrophy (BMD). The results confirm DMD and BMD linkage to all marker loci and suggest closer linkage of several probes than hitherto detected. This will be of practical interest for risk calculations in affected families.

Alleles↗
PubMed1987

Neurologic complications of erythema-migrans-disease in childhood--clinical aspects.

Erythema-migrans-disease represents a tick-borne borreliosis with a high and widespread incidence according to first epidemiological surveys. The early symptom is a distinctive erythema migrans eventually followed by arthritis and cardiac involvement as well as neurologic complications in the form of lymphocytic meningoradiculitis Garin-Bujadoux-Bannwarth. In a one-year-period we observed 9 children who developed neurologic complications as the predominant feature of erythema-migrans-disease. Eight children suffered from a lymphocytic meningitis and/or a peripheral facial palsy and one child presented with a severe polyradiculoneuritis with complete transverse myelitis. In contrast to adults the clinical course of neurologic manifestations in children seems to be milder and shorter and not associated with the typical painful radiculitis. Acute Bell's palsy seems to be a rather common symptom, whereas other peripheral pareses of the mononeuritis multiplex type were not observed. With respect to the assumed frequency and because of the possibility of antibiotic therapy, erythema-migrans-disease should be ruled out in any case of so-called idiopathic facial palsy or aseptic meningitis, which are frequently encountered in children.

Adolescent↗
PubMed1987

The prognostic value of EEG patterns in epilepsies with infantile spasms.

By scoring EEG patterns (hypsarrhythmia = 10, absence of sleeping patterns = 10, focal epileptic discharge = 5, general-treatment or in whom infantile spasms never disappeared even during ACTH. A low voltage EEG did not have any ending ACTH therapy free of seizures showed lower scores compared to those infants relapsing after the end of ACTH treatment or in whom infantile spasms never disappeared even during ACTH. A low voltage EED did not have any prognostic significance. Using EEG scores it might be possible to separate non-responders and responders after 3 weeks of ACTH therapy, thus shortening ACTH treatment in non-responding infants.

Adrenocorticotropic Hormone↗
PubMed1987

[Mucolipidosis type II (I-cell disease) with unusually severe heart involvement].

Mucolipidosis II (I-cell disease), an autosomal recessive inborn error of mucolipid metabolism with defective transport of lysosomal enzymes is described in a young infant. Besides the typical findings as a result of the "lysosomopathy", this case presented an unusual and distinct cardiac involvement: a cardiomyopathy with dilatation of the left ventricle and signs of an endocardfibroelastosis.

Cardiomyopathy, Dilated↗
PubMed1986

Rett syndrome--search for genetic markers.

We have studied 8 girls with Rett syndrome, including 2 sisters. Their ages ranged from 1 to 26 years. The youngest patient presented with developmental delay and atypical infantile spasms. The oldest was the sister of a patient followed over a period of 13 years and showed the typical history and clinical picture of Rett syndrome. DNA from white blood cells of these patients was investigated for alterations in the OTC structural gene. As compared to normal control individuals no gross alterations occur in the OTC structural genes of patients with Rett's syndrome.

Adolescent↗
PubMed1986

Congenital muscular dystrophy with cerebral and ocular malformations (cerebro-oculo-muscular syndrome).

Two children with the features of the "Muscle, Eye and Brain (MEB) Disease" (SANTAVUORI 1977), i.e. congenital muscular dystrophy (CMD), cerebral malformations and ocular abnormalities are reported and correlations with other inherited autosomal recessive syndromes of CMD, Fukuyama type of CMD and the Walker-Warburg syndrome discussed. The association of CMD and cerebral lesions indicate an unfavourable clinical prognosis.

Abnormalities, Multiple↗
PubMed1985

The clinical pattern of the Rett syndrome.

A case of infantile spasms who developed later on many characteristics of Rett syndrome is described. Rett syndrome was also observed in two sisters. This will probably have great importance for genetic counselling.

Adolescent↗
PubMed1985

Rett syndrome: criteria for inclusion and exclusion.

In the absence of discriminatory laboratory tests for accurate diagnosis of the Rett syndrome, the authors have tried to give as precise clinical criteria as possible for use particularly for research purposes.

Child↗
PubMed1985

[Erythema migrans disease. 3 case examples with neurologic complications].

The erythema-migrans-disease is closely related to Lyme-disease as described in the USA, and represents a tickborne spirochetosis with highest incidence during summer and autumn. Besides nonspecific general symptoms in its earlier stages, it is characterized by a distinctive erythema migrans; later, additional neurological, cardiac and/or arthritic symptoms may develope. Its typical neurologic complication, the lymphocytic meningoradiculitis Garin-Bujadoux-Bannwarth, was observed in three children whose clinical features illustrate the great variability of symptoms of Erythema-migrans-disease. Serological tests for specific spirochete antibodies are valuable aids in differential diagnosis, especially for cases with late complications if a tick bite is not remembered, or as is not uncommon, the typical skin lesion has not occurred, or has not been noted. Antibiotic therapy with penicillin or tetracycline is a successful treatment of the earlier stages of the disease and can prevent, or at least ameliorate, subsequent complications.

Adolescent↗
PubMed1984

Slight impairment of psychomotor skills in children after treatment of acute lymphoblastic leukemia.

Several studies have reported a decline in intelligence and cognitive functions in survivors of childhood acute lymphoblastic leukemia (ALL). Other investigators, however, have found no intellectual impairment in these children. Fifty-one long-term survivors of ALL, having been treated according to the protocols of the BFM Study Group from 1970 to 1979, were assessed retrospectively using neurophysical methods. The results were compared with those obtained from 30 patients with other malignancies, who had received neither radiation therapy to the central nervous system (CRT) nor any methotrexate during chemotherapy. Additionally, neurological examinations and cranial computed tomography (CCT) were performed. neuropsychological examinations included verbal functions, intelligence (performance), psychomotor speed, motor skills and sensory integration. The results of verbal tests and the IQs, tested by nonspeed-related measures, were within normal limits in both groups. About one-third of all patients showed mild disturbances of psychomotor speed and motor skills. Children with leukemia had lower scores than those with solid tumors for nearly all tasks, but only tests for sensory integration revealed significant differences between former ALL patients and tumor patients. Furthermore, the following results were obtained related to different therapeutic modalities: The higher total radiation doses had been during CRT (maximum 24 GY), the more neuropsychological functions were impaired, particularly motor accuracy and sensory integration. These disturbances improved with the length of survival. Widening of subarachnoidal space was found in 33% of the CCT obtained. There was no correlation between the intellectual functions of the survivors and the CCT abnormalities. Neurological findings mainly consisted of slight fine motor disturbances.(ABSTRACT TRUNCATED AT 250 WORDS)

Achievement↗
PubMed1984

CSF protein profile in infantile spasms. Influence of etiology and ACTH or dexamethasone treatment.

CSF proteins in 107 children ranging from 3 to 24 months of age were analyzed by means of quantitative zone electrophoresis on agarose gel. Subjects included 50 children with infantile spasms, 41 children without CNS disease serving as controls, and 16 infants with acute aseptic meningitis who demonstrated the protein pattern of blood-CSF barrier disturbance. Children with infantile spasms were subdivided into several groups according to etiological categories: symptomatic (pre-, peri-, and postnatal), doubtful, and cryptogenetic. Before any treatment was started, these children showed the protein profile of increased permeability of the blood-CSF barrier, especially for albumin. There was an association between the severity of the changes and the etiological category. Changes were most marked in the symptomatic group, intermediate in the doubtful group, and slight in the cryptogenetic group. No child with infantile spasms of doubtful or unknown etiology revealed changes of the immunoglobulin-containing gamma fractions. Ten children who had received adrenocorticotropic hormone (ACTH) or dexamethasone for 2-11 weeks no longer showed any protein leakage into the CSF. The period of ACTH or dexamethasone treatment was characterized by the following findings: the disappearance or reduction of hypsarrhythmia; the reappearance of normal cerebrovascular permeability for protein; and the occurrence of reversible dilatation of the subarachnoid and intraventricular spaces.

Acute Disease↗
PubMed1984

Medullary nephrocalcinosis and pancreatic calcifications demonstrated by ultrasound and CT in infants after treatment with ACTH.

Thirteen patients who had undergone prolonged adrenocorticotropic hormone (ACTH) therapy for infantile spasms or myoclonic encephalopathy were examined with sonography. Nine patients were found to have appearances characteristic of medullary nephrocalcinosis. In each of these infants the cortical echogenicity was normal in the presence of focal areas of increased echogenicity within the renal pyramids. Five patients also showed a homogeneously increased echogenicity of the whole pancreas on sonography, and two of these showed increased density on computed tomography. Density measurements were in the range of calcific material within the papillae and pancreatic tissue. On abdominal survey radiographs, even in retrospect no calcifications could be recognized.

Adrenocorticotropic Hormone↗