Cyanotoxins in inland lakes of the United States: Occurrence and potential recreational health risks in the EPA National Lakes Assessment 2007.

A large nation-wide survey of cyanotoxins (1161 lakes) in the United States (U.S.) was conducted during the EPA National Lakes Assessment 2007.

Two is better than one: a case of homozygous myotonic dystrophy type 1.

Myotonic dystrophy type 1 is an autosomal dominant condition caused by a trinucleotide CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase gene. The phenotypic features of myopathic facies, generalized weakness, and myotonia are thought to be dependent on repeat number, with larger expansions generally leading to earlier and/or more severe disease. The vast majority of individuals are heterozygous for an expanded allele and an allele in the normal range.

Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism.

Purpose: We report on a case in which cell-free fetal DNA was positive for trisomy 13 most likely due to confined placental mosaicism. Cell-free fetal DNA testing analyzes DNA derived from placental trophoblast cells and can lead to incorrect results that are not representative of the fetus.

Methods: We sought to confirm commercial cell-free fetal DNA testing results by chorionic villus sampling and amniocentesis.

Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome.

Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth disorder characterized by prenatal onset of overgrowth, characteristic facies, and frequently mild to severe mental retardation. In addition, a number of other characteristics including supernumerary nipples, a grooved tongue or chin, chest wall malformations, and mild genital anomalies are frequently seen as well. Here we present three brothers with Simpson-Golabi-Behmel syndrome, all of which had cryptorchidism with one also having chordee of the penis, hypospadius, and penoscrotal transposition.

Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review.

Trisomy 13 mosaicism occurs when two cell lines, one with a normal complement of chromosomes and the other with an additional chromosome 13, are present in the same individual. We present two children with trisomy 13 mosaicism and summarize the literature in 47 published cases. Our first patient is a 4-year-old male with normal development and dysmorphic features that include right microtia, tall forehead, bulbous nose, and high arched palate.