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Biomedical subjects

F Visscher

Publications and source records attributed to F Visscher.

14 recordsLinked to original sources
PubMed2001

Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome.

We report on a patient with Williams syndrome and a complex de novo chromosome rearrangement, including microdeletions at 7q11.23 and 7q36 and additional chromosomal material at 7q36. The nature of this additional material was elucidated by spectral karyotyping and first assigned to chromosome 22. Subsequent fluorescence in situ hybridization (FISH) experiments showed that it consisted of satellite material only. Refinement of the 7q36 breakpoint was performed with several FISH probes, showing a deletion distal to the triphalangeal thumb (TPT) region. The phenotype of the patient principally results from the microdeletion of the 7q11.23; the small deletion at 7qter and the extra satellite material may not be of clinical significance.

Adult↗
PubMed1998

[Prone position favors motor development of infants].

OBJECTIVE: To determine the motor development in infants sleeping in the supine position compared to infants sleeping in the prone position, and to compare the levels of motor development of infants playing only in the supine position and of infants playing in the prone position as well. DESIGN: Prospective blinded comparing study. SETTING: Department of Physical Therapy, Maasziekenhuis, Boxmeer, the Netherlands. METHODS: Various measuring instruments were used in the home environment to determine the levels of motor development at the age of 5 months of 21 healthy infants born at term selected from a group of 160 infants attending the infant welfare clinic. RESULTS: Infants sleeping in the prone position (n = 8) showed a higher motor development than infants sleeping in the supine position (n = 13). Infants playing in the prone and supine position (n = 5) had a higher motor development than infants who played exclusively in the supine position (n = 15). CONCLUSION: Sleeping and playing in the prone position was accompanied by a higher motor development in healthy mature-born infants at the age of 5 months.

Child Development↗
PubMed1993

[Intravenously-administered immunoglobulins as first-choice agent in juvenile dermatomyositis].

Dermatomyositis is an acquired disease characterised by symmetric predominantly proximal muscle weakness of the arms and legs, and misery. It may be associated with myalgia and there is often a characteristic rash. The mainstay of therapy is corticosteroids. Recently efficacy of intravenous immunoglobulin (IVIg) in chronic refractory dermatomyositis was reported. Because corticosteroids can cause serious side effects, we treated a seven-year-old girl suffering from dermatomyositis with IVIg as initial therapy. After two courses of IVIg infusions at a dose of 0.4 g/kg/day for five consecutive days, the patient made a rapid and complete recovery. This case shows that IVIg may be effective as initial therapy in patients with dermatomyositis. Whether IVIg is really a better treatment than corticosteroids should be investigated in a randomised study.

Biopsy↗
PubMed1993

Fatigue, sleep disturbances and circadian rhythm in multiple sclerosis.

The aim of this study was to investigate whether fatigue and sleep disturbances in multiple sclerosis (MS) patients might be due to disrupted circadian sleep wake regulation. Actigraphy and a multiple sleep latency test (MSLT) were performed in 16 MS patients with both prominent sleep complaints and fatigue. Actigraphy scores did not differ from control values, whereas sleep onset latency values were altered in subgroups of MS patients. No evidence was found for a generalized circadian disturbance in MS patients.

Adult↗
PubMed1989

[The drowsy patient].

Explore the source record for details and available documents.

Disorders of Excessive Somnolence↗
PubMed1989

[The Kleine-Levin syndrome].

Two boys, aged 12 and 13 years, showed relapsing periods of somnolence and excessive eating, starting after a viral illness. One of them also showed periodic disturbance of sexual impulse control. The symptomatic periods were followed by symptom-free intervals in a highly characteristic pattern. This gave the clue to the diagnosis Kleine-Levin syndrome. The cause of this syndrome is unknown, in some cases a relationship between infectious disease or traumatic brain damage has been postulated. A dysfunction of the hypothalamus and associated structures is suspected. The syndrome has a rather favourable prognosis. The symptoms can be relieved by amphetamines, methylphenidate and probably also by lithium carbonate.

Adolescent↗