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D B Everman

Publications and source records attributed to D B Everman.

8 recordsLinked to original sources
PubMed2006

LADD syndrome is caused by FGF10 mutations.

Lacrimo-auriculo-dento-digital syndrome [LADD (MIM 149730)] is an autosomal-dominant multiple congenital anomaly disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies. Loss of function mutations in FGF10 were recently described in aplasia of the lacrimal and salivary glands [ALSG (MIM 180920; MIM 103420)] (Entesarian et al., Nat Genet 2005: 37: 125-127, Milunsky et al., American College of Medical Genetics Annual Meeting, Dallas, TX, 2005: A100). Due to the significant phenotypic overlap between LADD syndrome and ALSG and the variable expressivity of both the disorders, we hypothesized that FGF10 mutations could also result in LADD syndrome. A de novo missense mutation was found in exon 3 of FGF10 in a 3-year-old female (Family 1) with LADD syndrome. This missense mutation, resulting in a non-conservative amino acid change, was confirmed by restriction enzyme digestion and was not found in 500 control chromosomes. A nonsense mutation was also found in exon 2 of FGF10 (Family 2) in a 19-year-old mother with ALSG and her 2-year-old daughter with LADD syndrome. Previous studies of FGF10 mutant mice have demonstrated abnormalities consistent with ALSG and LADD syndrome. We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations.

Abnormalities, Multiple↗
PubMed2000

Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome.

We conducted a retrospective study that compared serial alpha-fetoprotein (AFP) concentrations obtained from 22 children with Beckwith-Wiedemann syndrome (BWS) with levels established for healthy children. The AFP concentration is greater in patients with BWS and declines during the postnatal period at a significantly slower rate than what is reported in healthy children. AFP levels obtained in the course of routine tumor screening in children with BWS should be interpreted with a normal curve established specifically for BWS rather than with previously published data for healthy infants and children.

Beckwith-Wiedemann Syndrome↗
PubMed1991

Evidence for superoxide formation during hepatic metabolism of tamoxifen.

Spin trapping of free radicals during the hepatic metabolism of tamoxifen was investigated; the spin trap employed in this study was 5,5-dimethyl-1-pyrroline-1-oxide (DMPO). The spin adduct 2-hydroxy-5,5-dimethyl-1-pyrrolidinyloxyl (DMPO-OH) was detected in an in vitro incubation mixture of phenobarbital-treated rat hepatocytes containing tamoxifen, dimethyl sulfoxide, and DMPO. However, since the spin adduct 2,5,5-trimethyl-1-pyrrolidinyloxyl (DMPO-CH3) was not observed, the DMPO-OH resulted from the cellular bioreduction of 2-hydroperoxy-5,5-dimethyl-1-pyrrolidinyloxyl (DMPO-OOH) by glutathione peroxidase. Addition of superoxide dismutase (SOD) to the in vitro system indicated that superoxide production was intracellular. When noninduced hepatocytes were utilized, free radical production was not evident. Thus, the cytochrome P450 monooxygenase system was responsible, in part, for the intermediacy of superoxide anion during hepatic metabolism.

Animals↗
PubMed1990

Detection of free radicals during the cellular metabolism of adriamycin.

Experiments were conducted to determine which free radicals are generated during the metabolism of adriamycin (ADM) by canine tracheal epithelial (CTE) cells, guinea pig enterocytes, and rat hepatocytes. The technique employed in this study was spin trapping; the spin trap utilized was 5,5-dimethyl-1-pyrroline-1-oxide (DMPO). The spin adduct 2-hydroxy-5,5-dimethyl-1-pyrrolidinyloxyl (DMPO-OH) was observed during the metabolism of ADM by CTE cells. However, the addition of dimethyl sulfoxide to the in vitro system suggested that superoxide is initially spin trapped by the nitrone, and that the adduct 2-hydroperoxy-5,5-dimethyl-1-pyrrolidinyloxyl (DMPO-OOH) is rapidly bioreduced to afford DMPO-OH. The addition of superoxide dismutase to the system indicated that superoxide generation was primarily intracellular. The adriamycin semiquinone free radical (ADM-SQ) was produced during the metabolism by enterocytes and hepatocytes. The rate of the production of ADM-SQ was enhanced under anaerobic conditions, suggesting that molecular oxygen was responsible for the degradation of this carbon-centered free radical. However, spin trapping of oxygen radicals was not observed; this observation suggests that these reactive intermediates are not produced at concentrations sufficient for detection by spin-trapping experiments.

Animals↗
PubMedDate not supplied

Bipolar disorder associated with Klinefelter's syndrome and other chromosomal abnormalities.

A patient with bipolar disorder and previously undiagnosed Klinefelter's syndrome presented with acute mania refractory to pharmacotherapy and was successfully treated with electroconvulsive therapy. This case constitutes the 31st case report documenting the coexistence of bipolar disorder with chromosomal anomalies and the 14th such patient with Klinefelter's syndrome. The relevance of this case to understanding the genetics of bipolar disorder is explored through a review of previously published reports of bipolar patients with chromosomal abnormalities. The relatively high incidence of Klinefelter's syndrome among this group of patients is discussed in the context of evidence for linkage of bipolar illness to the X chromosome.

Adult↗