Establishment of a CYP2C19 genotyping assay for clinical use.

Conversion of clopidogrel (Plavix) to its active metabolite is catalyzed largely by the P450 enzyme 2C19 (CYP2C19). Numerous allelic variants of CYP2C19 exist. The *1 allele is considered wild type, whereas the *2 and *3 alleles have no in vivo enzymatic activity.

Widespread retinal degenerative disease mutation (rdAc) discovered among a large number of popular cat breeds.

The recent discovery of a mutational variant in the CEP290 gene (CEP290: IVS50+9T>G), conferring recessive retinal degeneration in Abyssinian and Somali (long-haired Abyssinian) cats (rdAc) prompted a survey among 41 cat breeds (846 individuals) to assess the incidence, frequency and clinical consequence of rdAc. The rdAc allele displayed widespread distribution, observed in 16/43 (37%) breeds, exhibiting a high allele frequency (∼33%) in North American and European Siamese populations. Clinical evaluations demonstrated high concordance between rdAc pathology and the CEP290 (IVS50+9T>G) homozygous genotype (P=1.

Using interphase fluorescence in situ hybridization (I-FISH) to detect the transfer of infant cells during breastfeeding.

Using fluorochrome-labeled probes for the X and Y chromosomes, fluorescence in situ hybridization (FISH) was used to test for the presence of male cells in the milk of women breastfeeding male babies. After breastfeeding, the women wiped one breast and collected a test sample. Wiping efficiency was evaluated in 2 mothers by running a solution over the nipple after wiping.

Histological characteristics of singleton placentas delivered before the 28th week of gestation.

Aims: The placenta is a record of the fetal environment and its examination may provide information about the baby's subsequent growth and development. We describe the histological characteristics of 947 singleton placentas from infants born between 23 and 27 weeks gestation.

Methods: Consent was obtained from mothers who delivered before 28 weeks (clinical estimate).

Characterization of chorioamnionitis in 2nd-trimester C-section placentas and correlation with microorganism recovery from subamniotic tissues.

Prolonged exposure to infection appears to influence fetal/neonatal development. We characterize the relationship between histologic patterns of inflammation and microorganism recovery from the placentas of live born infants delivered before the 28th postmenstrual week. The subamniotic parenchyma of 835 placentas delivered by cesarean section were cultured and evaluated for specific histologic patterns of inflammation in a blinded fashion.

Patterns of molecular genetic variation among cat breeds.

Genetic variation in cat breeds was assessed utilizing a panel of short tandem repeat (STR) loci genotyped in 38 cat breeds and 284 single-nucleotide polymorphisms (SNPs) genotyped in 24 breeds. Population structure in cat breeds generally reflects their recent ancestry and absence of strong breed barriers between some breeds. There is a wide range in the robustness of population definition, from breeds demonstrating high definition to breeds with as little as a third of their genetic variation partitioning into a single population.

Reference weights for placentas delivered before the 28th week of gestation.

Context: Very few studies have measured the weight of large numbers of placentas delivered before the 28th post-menstrual week.

Methods: We measured the weight of 930 singleton placentas delivered before the 28th post-menstrual week, and examined the distributions of weights in selected groups (week of gestation, reason for preterm birth, birth weight Z-score categories, placenta histology). We excluded 90 singleton placentas based on growth restriction as indicated by birth weight Z-score, resulting in a normative sample of 840 placentas.

Genetic analysis of human milk by fluorescence in situ hybridization.

Ductal lavage is a technique for early breast cancer detection in high-risk women. During this procedure, exfoliated epithelial cells are flushed out of the milk ducts of nonlactating women and the collected cells are analyzed for cellular changes associated with breast cancer. A recently developed protocol uses interphase fluorescence in situ hybridization (I-FISH) to detect specific chromosomal aneusomies known to be associated with breast cancer.

Triplet placentas: reference values for weights.

The occurrence of twins, triplets, and other multiple births increased significantly between 1970 and 2000 in the United States and other industrialized countries. The number of triplet placentas submitted for examination as pathologic specimens has also markedly increased, but no reference values are published for triplet weights. We examined 196 normal triplet placentas.

Expression of estrogen receptor beta in the fetal, neonatal, and prepubertal human prostate.

Background: Although androgens have long been implicated in the development, regulation, and pathophysiology of the prostate, evidence suggests that estrogens may also affect these processes. Specifically, estrogens have been shown to influence the development of the fetal and neonatal rodent prostate and to induce a pathognomonic change, termed squamous metaplasia, in the developing and adult prostate. Studies have been inconclusive, however, as to whether estrogens enhance or restrain the growth of the gland.

Recurrent umbilical cord torsion leading to fetal death in 3 subsequent pregnancies: a case report and review of the literature.

During a span of 3.5 years, a 30-year-old, gravida 9, para 3 woman experienced 3 pregnancies complicated by umbilical cord torsion and constriction. In each case, the complication resulted in acute vascular compromise and intrauterine fetal demise.

Reproduction in a patient with trisomy 8 mosaicism: case report and literature review.

We describe a patient with trisomy 8 mosaicism followed through a sixth pregnancy and discuss issues in phenotypic and genotypic variability, the risk for neoplasia, and reproductive risks.

A five-year experience with fragile X testing. Setting laboratory standards of practice and a cost-effective protocol.

During the years 1990-1994, our center tested 652 patients, with a broad range of referral indications, for fragile X syndrome using either cytogenetic analysis alone (Protocol 1) or more recently, a combination of DNA analysis and routine karyotyping (protocol 2). The overall positive rate for fragile X was 3.1% with an incidence of other chromosomal abnormalities (OCAs) of 3.

Inheritance of polycystic kidney disease in Persian cats.

Polycystic kidney disease in Persian cats culminates in chronic renal failure after a variable clinical course. An affected 6-year-old Persian cat was used to establish a colony of cats with polycystic kidney disease. In affected cats, cysts could be detected by ultrasonography as early as 7 weeks of age.

Trisomy 7 and Potter syndrome.

A patient with mosaic trisomy 7 and features of Potter syndrome is described. The patient was the product of a 35-week gestation and survived fourteen hours, demise being attributed to respiratory insufficiency. Autopsy confirmed pulmonary hypoplasia and renal agenesis.