Background: Immunodeficiency, centromeric instability
and facial dysmorphism (ICF syndrome) is a rare
autosomal recessive disease characterised by facial
dysmorphism, immunoglobulin deficiency and ...branching
of chromosomes 1, 9 and 16 after PHA stimulation of
lymphocytes. Hypomethylation of DNA of a small fraction
of the genome is an unusual feature of ICF patients which
is explained by mutations in the DNA methyltransferase
gene DNMT3B in some, but not all, ICF patients.
Objective: To obtain a comprehensive description of the
clinical features of this syndrome as well as genotype–
phenotype correlations in ICF patients.
Methods: Data on ICF patients were obtained by
literature search and additional information by means of
questionnaires to corresponding authors.
Results and conclusions: 45 patients all with proven
centromeric instability were included in this study. Facial
dysmorphism was found to be a common characteristic
(n=41/42), especially epicanthic folds, hypertelorism,
flat nasal bridge and low set ears. Hypo- or agammaglobulinaemia
was demonstrated in nearly all patients
(n=39/44). Opportunistic infections were seen in several
patients, pointing to a T cell dysfunction. Haematological
malignancy was documented in two patients. Life
expectancy of ICF patients is poor, especially those with
severe infections in infancy or chronic gastrointestinal
problems and failure to thrive. Early diagnosis of ICF is
important since early introduction of immunoglobulin
supplementation can improve the course of the disease.
Allogeneic stem cell transplantation should be considered
as a therapeutic option in patients with severe infections
or failure to thrive. Only 19 of 34 patients showed
mutations in DNMT3B, suggesting genetic heterogeneity.
No genotype–phenotype correlation was found between
patients with and without DNMT3B mutations.
Many marine algae contain high concentrations of dimethylsulfoniopropionate (DMSP); most likely this compound functions mainly as an osmolyte. In anoxic marine sediments DMSP can be degraded in two ...ways: via an initial demethylation, or via a cleavage to dimethyl sulfide (DMS) and acrylate. Although the occurrence of these processes in sediments was known, the types of organisms responsible for them were not. Recent data from our laboratory, however, have shown that certain types of sulfate-reducing bacteria can carry out a demethylation of DMSP, whereas another sulfate reducer was found to cleave DMSP to DMS and acrylate, which was reduced to propionate. Thus, sulfate-reducing bacteria might be responsible for at least a part of the observed DMSP transformations in anoxic sediments. It was also shown that a well-known oxidation product of DMS, dimethyl sulfoxide, can function as an alternative electron acceptor in the metabolism of some marine sulfate reducers. These data are reviewed in the present article.
The EPR-type strangeness correlation in the K
0
K
0
system produced in the reaction
p
p→
K
0
K
0
at rest has been tested using the CPLEAR detector. The strangeness was tagged via strong interaction ...with absorbers away from the creation point. The results are consistent with the QM non-separability of the wave function and exclude a spontaneous wave-function factorisation at creation (CL >99.99%).
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IJS, IMTLJ, KILJ, KISLJ, NUK, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
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