A new window on neurocognitive dysfunction in the childhood form of myotonic dystrophy type 1 (DM1).

Not much is known about the neurocognitive deficits in the childhood phenotypic expression of DM1. Twenty-four children and adolescents with no mental retardation were administered an extensive neuropsychological battery to investigate cognition in terms of memory, executive functions and visuo-spatial abilities. The results showed discrepancies between Wechsler's indexes with higher scores in Verbal Comprehension than Perceptive Organization and Speed of Processing.

[Colorectal carcinogenesis. 2. Underlying epigenetic and genetic alterations and molecular classification of colorectal cancers].

Gene alterations which have been implicated in colorectal carcinogenesis are characterized by three major mechanisms: chromosomal instability, microsatellite instability, and epigenetic mechanisms (i.e., CpG island hypermethylation).

Cognitive profile in childhood myotonic dystrophy type 1: is there a global impairment?

The objective of this study was to assess the cognitive profile in the childhood-onset form of myotonic dystrophy (DM1). We carried out a general cognitive abilities study on 36 patients (6-18 years). Results of Full Scale IQ , VIQ (Verbal IQ) and PIQ (Performance IQ) measures are discussed in terms of global cognitive impairment depending on the (CTG)n repeat size and the transmitting parent's sex.

[Colorectal carcinogenesis. 1. Hereditary predisposition and colorectal cancer].

Tumors arising sporadically represent 70-80% of colorectal cancer (CRC). The two best defined forms of inherited CRC-familial multiple polyposis (FMP) and Hereditary Non-Polyposis Colon Cancer (HNPCC) account respectively for<1% and 2-3% of CRC. These rare genetic syndromes (FMP, HNPCC, Peutz-Jeghers Syndrome) are caused by major predisposing gene mutations (APC gene, MMR gene, BMPR1A.

Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1.

Cardiac tachyarrhythmias have rarely been studied in young patients with myotonic dystrophy type 1 (DM1). The authors observed major cardiac rhythm disturbances in 11 patients aged 10 to 18 years. Tachyarrhythmic events were more frequent than impulse conduction disorders.