1,721,200 research outputs found
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
No full textLo splicing alternativo della proteina che ancora la CaMKII al reticolo sarcoplasmatico e’ regolato dallo stadio di sviluppo e dall’innervazione motoria del muscolo
No full textAcute disseminated encephalomyelitis associated with hepatitis C virus infection
Full text linkBACKGROUND:
Acute disseminated encephalomyelitis (ADEM) is an autoimmune demyelinating disease of the central nervous system that is frequently preceded by an acute viral infection. This is the first reported case of ADEM associated with hepatitis C virus (HCV) infection.
CASE DESCRIPTION:
A 46-year-old woman underwent a surgical procedure and received multiple blood transfusions, at which time serologic testing for HCV was negative. Fifty days later, she suddenly developed seizures, alteration of consciousness, right hemiparesis, hemianopsia, and urinary retention. Magnetic resonance imaging revealed symmetric multifocal changes on T2-weighted images in the cerebral gray and white matter and in the cerebellar white matter with some lesion enhancement after gadolinium administration. Blood testing showed a recent HCV infection with high titer of IgM early antigens and a strongly positive reaction for HCV RNA. All other microbiological and virological test results were negative both in serum and in cerebrospinal fluid. Treatment with high-dose dexamethasone was followed by a dramatic improvement of the clinical and magnetic resonance picture. Within a few months the patient recovered completely and there were no relapses during 2 years of follow-up.
CONCLUSIONS:
Infection with HCV is associated with several autoimmune neurological manifestations. It is recommended the patients with ADEM be screened for HCV
6q27 subtelomeric deletions: Is there a specific phenotype?
Full text linkWe read with great interest the report of Mosca et al. [2010] in theMay issue of the Journal, describing a patient with a 5.65Mb
deletion on chromosome 6q27 (ranging from 165.24Mb to the
6q telomere at 170.89 Mb)associated with intellectual disability and a Ehlers–Danlos (EDS) like phenotype. We would like to further delineate the phenotypic spectrum of these rearrangements by reporting two additional patients with this chromosomal abnormality.
Patient 1 is a 17-year-old girl, with a history of moderate
psychomotor retardation, hypotonia and a sacral lipoma, that was surgically removed at age 5. She had mild dysmorphic features (downslanting, narrow palpebral fissures, a broad nasal root, malar hypoplasia, prominent ears, and thin vermillion of the upper lip). Brain MRI performed at age 16 as part of the investigations for the intellectual disability, showed an atypical cerebellar cyst, and evidence of periventricular nodular heterotopia. She has never had seizures
Genetic susceptibility to teratogens: State of the art.
No full textThere is evidence that the susceptibility to the teratogenic effect of drugs within human populations
varies extremely from one individual to another, even after identical exposures. One of the factors that
may explain these interindividual differences is the genetic makeup in the pharmacokinetics and pharmacodynamics
of the respective drugs. In fact, both maternal and embryonic/fetal genotypes can affect
placental transport, absorption, metabolism, distribution and receptor binding of an agent, influencing its
teratogenicity. We have reviewed the literature and commented on the reported correlations between
genetic factors and drug-induced birth defects. There is still a clear lack of knowledge regarding this
issue and the available data are often conflicting. However, the identification of specific polymorphisms
associated with predisposition to teratogenesis may allow in the future the development of personalized
non-teratogenic therapies for pregnant women
Development of optimized assays for mitochondrial respiratory chain enzymatic activities in tissues and cells
No full textThe complexity of the 5’UTR region of CLCN5 gene: ten 5’UTR ends are differentially expressed in the human kidney
No full textYeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria
No full textDemonstration that functional complementaiton in yeast can detect residual activity in hypomorphic ASL alleles and provide phenotype-genotype correlations for this disorder
Neurofibromatosis type 1 in two siblings due to Maternal Germline Mosaicism.
No full textNeurofibromatosis type 1 is caused by loss of function mutations of the NF1 gene, which are de novo in 50% of cases. Although this gene shows one of the highest mutation rates in the human genome, germline mosaicism is very rare in this condition. We describe the molecular analysis of a family in which Neurofibromatosis type 1 occurred in two out of four siblings born to unaffected parents. Molecular analysis of the NF1 gene identified in both patients the same splicing mutation c.1392+1G>A, which was absent in parental lymphocytes. Microsatellite analysis showed that the two affected siblings shared the same maternal allele, however a specific PCR-RFLP assay excluded the presence of the NF1 splicing mutation in multiple maternal tissues. Our molecular and clinical findings are consistent with a germline mosaicism for the NF1 splicing mutation. This is the first case of maternal germline mosaicism for a NF1 mutation characterized so far at the molecular level. Our data confirm that germline mosaicism is rare in Neurofibromatosis 1, but it has important implications for genetic counseling
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