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Biomedical subjects

M Millner

Publications and source records attributed to M Millner.

At least 19 recordsLinked to original sources
PubMed2000

Clinical predominance of proximal upper limb weakness in CMT1A syndrome.

We report an Austrian family with proximal muscle weakness and wasting predominantly of the shoulder girdle musculature, normal or slightly reduced distal muscle power, mild foot deformity, absent or reduced tendon reflexes in the lower limbs, and normal or slightly diminished sensation. Electrophysiologically, motor nerve conduction velocities were slowed to less than 33 m/s, distal latencies were prolonged, and compound motor action potentials were low. Sensory nerve conduction velocities were extremely reduced or no sensory potentials were recordable. Genetic testing in three affected individuals revealed a duplication of the chromosomal region 17p11.2. In addition, genetic testing for facioscapulohumeral muscular dystrophy (FSHD) revealed a 33 kb EcoRI fragment on chromosome 4q35 in one affected individual and in the clinically normal parent, whereas in a second affected person normal DNA-sizes were observed. These clinical findings define a new phenotypic variant associated with the Charcot-Marie-Tooth 1A duplication. This may be due to a mutation in another gene contained in the 1.5 Mb duplication although mutations in the peripheral myelin protein 22 gene have been excluded. Alternatively, the genetic background of other genes in the family may modify the phenotypic expression, as found in other inherited diseases. The unusual phenotype cannot be explained by the concomitant presence of FSHD despite some evidence for coexistance in one individual.

Adult↗
PubMed1996

Stimulation of IgE and IgA production by CD45RA T helper cells in atopic patients.

The role of CD45RA T cells on allergen-dependent lymphocyte functions was analyzed in atopic patients. As compared with age-matched nonatopic controls, atopic patients exhibited a significantly (p < 0.01) increased frequency of CD45RA T cells in peripheral blood. Concentration of serum IgE correlated with increases in this T cell subset. In contrast to nonatopic controls, not only CD45RO but also CD45RA T cells from atopic patients provide help for allergen-stimulated IgE and IgA production, and they act in a synergistic fashion. Transwell coculture experiments revealed that optimal production of IgE and IgA required physical contact of CD45RA T cells with B cells. Freshly prepared and in vitro-activated CD45RO and CD45RA T cells from atopic patients showed an increased expression of CD40 ligand when compared with nonatopic individuals. In addition, CD45RA (and CD45RO) T cells from atopic individuals produced IL-4, IL-5, and IFN-gamma when stimulated with mitogens. Whereas stimulation of normal lymphocytes with tetanus Ag was followed by conversion of the CD45RA to the CD45RO phenotype, T cells from atopic donors did not acquire the CD45RO isoform to the same degree despite T cell activation. In atopic patients, addition of IL-4 to anti-CD3/anti-TCR stimulated CD45RA T cell prevented the shift towards the CD45RO phenotype. These data indicate that a subset of CD45RA T cells plays a unique role as effector T cells regulating IgE and IgA production in atopic patients.

Allergens↗
PubMed1996

[Charcot-Marie-Tooth syndrome. Clinico-genetic correlation in an affected family].

Hereditary motor and sensory neuropathy (HMSN) is one of the most frequently inherited causes of peripheral neurological disability. To date, the classification has been based on clinical, histological and genetic grounds. Due to increased genetic knowledge at the molecular level in recent years, diagnosis of the different subtypes has been considerably improved and their relationship clarified. We describe three generations of a family with HMSN IA (Charcot-Marie-Tooth disease IA = CMT 1A) with a genetic defect mapped to chromosome 17 and show the importance of genetic testing. Even in benign and clinically non-manifested causes of the disease, an early and non-invasive diagnosis should be made by genetic testing to identify affected persons; thus, nerve biopsy can be abandoned. Operations of pes cavus, which are not indicated and are often complicated by delayed healing, may be avoided. Instead, patients should undergo early physiotherapy and be counselled about their professional careers and family planning.

Adult↗
PubMed1995

Therapeutic interference with interferon-gamma (IFN-gamma) and soluble IL-4 receptor (sIL-4R) in allergic diseases.

Allergic sensitization is controlled by CD4+ T cells. A complex interaction between antigen-presenting cells, T- and B-cells results in the production of (allergen) specific IgE. Analysis of the lymphokine profile of lymphocytes from patients with bronchialasthma and atopic dermatitis revealed an imbalance in cytokine production. An enhanced production of IL-4 was accompanied by low or absent amounts of IFN-gamma. Since both cytokines play a central role in the regulation of IgE, it was examined whether therapeutic interference on the level of cytokine production may provide an useful tool to alter lymphocyte functions in allergic diseases. Two different model systems were employed to study the effects of soluble IL-4R (sIL-4R) under in vitro and in vivo conditions. (1) A mouse model system for allergic sensitization and increased airways responsiveness (AR) was employed to examine whether in vivo treatment with recombinant murine sIL-4R may prevent the development of allergic sensitization. It was found that local treatment through the airways and the lung as carried out by aersolization of the receptor offered a route of application that prevented the development of allergen-induced and allergen-dependent immediate hypersensitivity responses including the development of increased AR. (2). The in vitro effects of humans sIL-4R on functions of mononuclear cells prepared from two patients with most severe atopic dermatitis were examined. Incubation of lymphocytes with allergens in the presence and absence of sIL-4R indicated that the soluble receptor suppressed allergen-induced lymphocyte proliferation and allergen-dependent IgE, IgG and IgM production. In addition a complete suppression of allergen-specific IgE production was detected in the presence of sIL-4R. These data suggest that sIL-4R may provide a useful drug to modify lymphocyte-dependent immune functions in allergic diseases.

Allergens↗
PubMed1995

[Neurologic manifestations of Lyme borreliosis in children].

Since detection of the etiologic agent of Lyme borreliosis a wide spectrum is known to be caused by Borrelia burgdorferi (Bb) including acute, subacute, or chronic central nervous system (CNS) manifestations. In view of the difficulties in interpreting serological results the early diagnosis of Lyme borreliosis sometimes may be problematic. Our own observations in children which suffered from an acute neuroborreliosis (NB) showed the following: 1) Culturing of Bb from cerebrospinal fluid (CSF) seems successful particularly in the early phase of the disease. 2) A positive serum antibody titer cannot confirm, and a negative one cannot exclude a recent NB. 3) Indeed, there is a seronegative NB also in children. 4) A peripheral facial palsy without clinical evidence of meningitis can be the first manifestation of the disease. thus, in any case of peripheral facial palsy even without clinical evidence of meningitis a lumbar puncture has to be done in order to confirm or exclude a CNS infection.

Antibodies, Bacterial↗
PubMed1993

Multiple sclerosis-like syndrome in a woman heterozygous for adrenoleukodystrophy.

A 28-year-old asymptomatic woman was diagnosed to be heterozygous for adrenoleukodystrophy (ALD) by elevated very long-chain fatty acids in serum and fibroblasts after ADL had been diagnosed in her son. A year later she had transient unilateral blurred vision. Evoked potentials and brain magnetic resonance imaging showed further separate cerebral white matter lesions suggesting multiple sclerosis (MS). MS-like syndromes in women heterozygous for ALD may be more frequent than previously recognized.

Adrenoleukodystrophy↗
PubMed1993

[Complicated febrile convulsion vs herpes-encephalitis].

Since Acyclovir is available a sufficient treatment of herpes simplex virus (HSV) encephalitis exists. Febrile convulsions may occur as the initial manifestation of an encephalitis, particularly of an HSV encephalitis. Within 25 months out of 151 children with febrile convulsions five children with complicated febrile convulsions were admitted at the pediatric department of Graz. In all children HSV antibodies in serum and cerebrospinal fluid (CSF) were negative and the diagnosis of an HSV encephalitis was made by positive CSF HSV polymerase chain reaction (PCR). Therefore, in any suspected case, i.e. in any case of a complicated febrile convulsion, CSF should be investigated including a HSV PCR to rapidly confirm or exclude HSV encephalitis.

Acyclovir↗
PubMed1992

[Lyme borreliosis in childhood].

Ten years after detection of Borrelia burgdorferi as the etiologic agent of Lyme borreliosis and after introduction of serological methods an overview of the disease in children is given and compared with own observations. In view of the wide clinical spectrum and the difficulties in interpreting serological results the early diagnosis of Lyme borreliosis is still problematic at present. On the other hand, in case of late diagnosis therapeutic failure and/or partial recovery may result. Data of 138 children with clinically suspected recent Lyme borreliosis demonstrate that the early diagnosis particularly of neuroborreliosis can only be ameliorated when a careful synopsis of all specific and nonspecific laboratory parameters available is done. Additionally, the results of a prospective randomized study of the treatment of acute neuroborreliosis (penicillin G sodium versus ceftriaxone) and results of liquor patency and half-life of ceftriaxone are presented.

Antibodies, Bacterial↗
PubMed1989

Lyme borreliosis in children. A controlled clinical study based on ELISA values.

A total of 27 children with clinical symptoms indicative of Lyme borreliosis are described, 21 of which were seropositive. CNS symptoms were found in 17 of the seropositive children (81%). Of these 21, 7 were CSF negative. Another 3 (with Bell's palsy and/or aseptic meningitis) were initially CSF negative but developed specific CSF titres 80, 65 and 120 days after the first lumbar puncture, respectively. Thus, seropositive children with aseptic meningitis and without initial signs of an infectious aetiology should be checked for a neuroborreliosis even when CSF negative in the first lumbar puncture. Antibiotic therapy undertaken in 26 children showed clinical recovery (Sodium penicillin, 300,000-500,000 units/kg per day for 14 days). One developed residual hypoacusis. Comparison of enzyme-linked immunosorbent assay (ELISA) IgG values from 27 cases with those of 30 healthy controls showed that elevated ELISA titres are a good indication of the disease. However, Lyme borreliosis can only be diagnosed correctly if the clinical symptoms conform with specific titres.

Adolescent↗
PubMed1988

[Chronic gait disorder caused by pigmented villonodular synovitis of the sole of the foot].

A 13 year old girl showed increasingly over one and a half year a gait disturbance suspected to be a progressive neurologic disorder. Laboratory tests and routine x-rays were normal. Soft tissue radiography finally demonstrated a dense area on the sole of the left foot which was excised and identified as a pigmented villonodular synovitis (PVNS). The girl is well now. Because PVNS is a rare disorder in childhood the diagnosis is seldom suspected and difficult; however, it should be considered as a cause for localised pain and its consequences.

Adipose Tissue↗
PubMed1987

Relation of late potentials to ejection fraction and wall motion abnormalities in acute myocardial infarction.

A prospective study was performed to determine the relation between quantitative signal-averaged parameters and ejection fraction (EF) and wall motion abnormalities determined by radionuclide ventriculography in patients with acute myocardial infarction (AMI). In 50 patients with AMI, signal-averaging of the surface QRS complex (200 beats; filter frequencies of 40 to 250 Hz and 80 to 250 Hz) was performed and radionuclide ventriculograms were recorded 8 +/- 5 days after AMI. Twenty-five of these patients (50%) had anterior wall AMI, 20 (40%) had inferior wall AMI and 5 (10%) had non-Q-wave AMI. The duration of the low-amplitude signals of less than 40 microV, the signal-averaged QRS complex and the root-mean-square voltage of the terminal 40 ms were determined. In addition to EF determinations, wall motion abnormalities were assessed for the presence or absence of dyskinetic, akinetic and hypokinetic segments. A wall motion score was constructed by separating the left and right ventricles into 21 segments in the anterior, left anterior oblique and lateral views. On the basis of the presence or absence of late potentials, the patients were separated into 2 groups: group I comprised 15 patients (30%) with late potentials and group II 35 patients (70%) without late potentials. The low-amplitude signals (49 +/- 12 vs 24 +/- 8 ms) and the signal-averaged QRS complex (122 +/- 20 vs 96 +/- 15 ms) were significantly longer and the root-mean-square voltage (13.8 +/- 4.9 vs 54.3 +/- 27.4 microV) significantly lower in group I than in group II.(ABSTRACT TRUNCATED AT 250 WORDS)

Action Potentials↗
PubMed1985

[High intracranial pressure with the spreading of the cranial sutures as a leading symptom of herpes simplex meningitis].

A four-year old girl developed signs of increased intracranial pressure (head-ache, vomiting, ataxia, tremor, papilledema, cranial suture spread). Abacterial meningoencephalitis due to herpes virus was diagnosed, while the initially suspected brain tumor was ruled out. Without specific therapy the patient recovered completely; even the cranial suture spread disappeared. This case report demonstrates an unusual and more benign course of central nervous herpes virus infection.

Child, Preschool↗
PubMed1984

[Optic nerve hypoplasia and growth hormone deficiency: de Morsier's syndrome].

The association of optic nerve hypoplasia and deficiency of the septum pellucidum and hypopituitarism is known as the De Morsier syndrome or septo-optic dysplasia. Four children with blindness and growth retardation due to growth hormone deficiency are described. Frequent recurrent episodes of severe hypoglycaemia, starting in the newborn period, were observed in three of them. Although visual impairment was noted during the first year and growth failure was detected between the first and sixth year of life in all four patients, the diagnosis of septo-optic dysplasia was delayed for two to six years. Early diagnosis and treatment with growth hormone should prevent attacks of hypoglycaemia and their sequelae and bring about normal growth.

Abnormalities, Multiple↗
PubMedDate not supplied

[Ceftriaxone-induced cholelithiasis--a harmless side-effect?].

43 children suffering from borreliosis, meningitis and septicemia were treated with ceftriaxone. A six year old boy with acute jaundice due to ceftriaxone induced cholelithiasis encouraged us to reevaluate the frequency of ceftriaxone induced cholelithiasis and its' sequelae in children in a prospective study. Out of 43 children (age 6.3 years, 4 months to 16 years, male: female 25:18), 20 children (46.5%) showed sonographical evidence for ceftriaxone induced cholelithiasis after a treatment of at least 10 days. Two of them even had signs of intrahepatic cholestasis, 3 kids suffered from severe abdominal pain, non of them showed serologic abnormalities. Another 5 children (11.6%) had sludge in the gallbladder without evidence for cholelithiasis. In all patients the "pseudocholelithiasis" spontaneously resolved within at most 2 months. We suggest a sonographical examination of the gallbladder at the end of the ceftriaxone treatment in order to detect cholelithiasis, which might call for further monitoring and maybe dietary treatment.

Adolescent↗