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J C Carey

Publications and source records attributed to J C Carey.

At least 19 recordsLinked to original sources
PubMed2001

Pure trisomy 10p resulting from an extra ring chromosome: characterization by methods of advanced molecular cytogenetics.

With the use of advanced molecular cytogenetic techniques, we have identified an extra ring chromosome consisting of the entire short arm of chromosome 10 (10p) in a 9-month-old girl with multiple congenital anomalies. This case represents another cytogenetic mechanism leading to the formation of pure complete trisomy 10p, which has not been reported previously. Pure trisomy 10p is rare. This case will further delineate those features associated with trisomy 10p.

Abnormalities, Multiple↗
PubMed2001

Failure of metronidazole to prevent preterm delivery among pregnant women with asymptomatic Trichomonas vaginalis infection.

BACKGROUND: Infection with Trichomonas vaginalis during pregnancy has been associated with preterm delivery. It is uncertain whether treatment of asymptomatic trichomoniasis in pregnant women reduces the occurrence of preterm delivery. METHODS: We screened pregnant women for trichomoniasis by culture of vaginal secretions. We randomly assigned 617 women with asymptomatic trichomoniasis who were 16 to 23 weeks pregnant to receive two 2-g doses of metronidazole (320 women) or placebo (297 women) 48 hours apart. We treated women again with the same two-dose regimen at 24 to 29 weeks of gestation. The primary outcome was delivery before 37 weeks of gestation. RESULTS: Between randomization and follow-up, trichomoniasis resolved in 249 of 269 women for whom follow-up cultures were available in the metronidazole group (92.6 percent) and 92 of 260 women with follow-up cultures in the placebo group (35.4 percent). Data on the time and characteristics of delivery were available for 315 women in the metronidazole group and 289 women in the placebo group. Delivery occurred before 37 weeks of gestation in 60 women in the metronidazole group (19.0 percent) and 31 women in the placebo group (10.7 percent) (relative risk, 1.8; 95 percent confidence interval, 1.2 to 2.7; P=0.004). The difference was attributable primarily to an increase in preterm delivery resulting from spontaneous preterm labor (10.2 percent vs. 3.5 percent; relative risk, 3.0; 95 percent confidence interval, 1.5 to 5.9). CONCLUSIONS: Treatment of pregnant women with asymptomatic trichomoniasis does not prevent preterm delivery. Routine screening and treatment of asymptomatic pregnant women for this condition cannot be recommended.

Adult↗
PubMed2001

del (9p) syndrome: proposed behavior phenotype.

Over recent years interest in the study of behavior phenotypes has gained increasing momentum. We present three white female patients, age respectively 9 years 9 months, 14 years 6 months and 18 years at the time of the last observation, seen because of developmental delay/mental retardation, seizures and learning disabilities. Cytogenetic analysis showed a de novo deletion of the short arm of chromosome 9 in all three, with the breakpoint being located at band 9p22. Although several studies have described the somatic phenotype, analytical evaluation of verbal and non-verbal cognitive functions are lacking. Our patients received a detailed neuropsychological and linguistic evaluation that showed a particular behavior profile, in the context of mental retardation of variable degree. On selective tests there was a marked deficit in visuo-praxic and visuo-spatial skills associated with memory disturbance. Visuo-motor integration abilities [VMI; Beery, 1997] and visuo-perceptual and visuo-spatial abilities [Benton line orientation test, 1992] seemed particularly impaired, both in relation to verbal mental age (vocabulary and grammatical production/comprehension) and to some non-verbal competencies [Benton face recognition test, 1992]. The profile shows advanced performances in face recognition. In addition, there is also a dissociation between verbal and visuo-spatial short term memory. This behavior phenotype is similar to that of Williams syndrome (WS) individuals. Our patients also showed some unusual within-domain dissociations regarding linguistic abilities. To better demonstrate similarities and differences between the behavior phenotypes of the del (9p22) syndrome and WS, we studied three IQ-gender-matched WS subjects. The comparison between the cognitive phenotypes of the two syndromes shows similarities in neuropsychological pattern. We hypothesize that there is a gene within the 9p22 region responsible for the neuropsychological profile described here.

Adolescent↗
PubMed2001

Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development.

The prenatal diagnosis of trisomy 20 mosaicism presents a challenge for practitioners and parents. The diagnosis implies an uncertain risk for an inconsistent set of physical and developmental findings, as well as a substantial chance for a child that is normal physically and developmentally. We report two girls (ages nine years one month and eight years one month) with normal intelligence and hypopigmented skin areas. Both girls were born after a prenatal diagnosis of trisomy 20 mosaicism in amniocytes. Case 1 had 83% and 57% trisomy 20 cells from two separate amniocenteses and Case 2 had 90% trisomy 20 cells from an amniocentesis. Trisomy 20 was confirmed after birth in urinary sediment (25%) and chorionic villus cells (15%) in Case 1, while cord blood lymphocytes (30 cells) and skin fibroblasts (50 cells) had only 46,XX cells. Trisomy 20 was confirmed after birth in urinary sediment (100%), placenta (100%), cord (10%), amniotic membrane (50%), and skin fibroblasts (30%) in Case 2, while cord blood lymphocytes (100 cells) had only 46,XX cells. This is the first report of a hypopigmented pigmentary dysplasia associated with isolated trisomy 20 mosaicism. Our patients are the oldest reported children with trisomy 20 mosaicism confirmed after birth.

Chromosomes, Human, Pair 20↗
PubMed2001

Metronidazole treatment of women with a positive fetal fibronectin test result.

Eighty-nine women with either bacterial vaginosis, Trichomonas vaginalis, or both, who also had a positive fetal fibronectin test result were randomized to two courses of metronidazole treatment as part of a Maternal-Fetal Medicine Network Units study of the National Institute of Child Health and Human Development. In this subgroup analysis, compared with the placebo group, women who were treated with metronidazole had a nonsignificant reduction in spontaneous preterm birth from 14.6% to 8.3%.

Anti-Infective Agents↗
PubMed2001

Wolf-Hirschhorn (4p-) syndrome.

Wolf-Hirschhorn syndrome (WHS) is a well-known congenital malformation syndrome caused by deletion of the short arm of chromosome 4 (4p-). In spite of more than 100 reported cases, information on its natural history remained very limited until recently. It was generally thought that these children had severe developmental disabilities and tended to be mere survivors devoid of personality. However, it is now evident that individuals with WHS are capable of more acquisition of developmental milestones than previously suggested. It is therefore very important to have guidelines for health supervision and anticipatory guidance of such patients. Although thought to affect 1 per 50,000 births, we believe that the syndrome is more common because of the many syndromes with which it is still misdiagnosed, and because only 58% of cases can be recognized on regular G-banding. The following discussion outlines the historical evolution of our recognition of the several complex aspects of this syndrome, from the very early description to the latest knowledge on clinical and cytogenetic/molecular genetic aspects. Its purpose is to draw the attention of professionals (particularly pediatricians and family practitioners) to a clinical disorder that probably affects many more individuals than previously thought. Accurate identification of such patients can lead to the organization of the most appropriate laboratory testing, to the prediction of the prognosis with relative certainty, to the development of the most appropriate health maintenance and educational plans, and to referral of the patient and the family to support groups.

Abnormalities, Multiple↗
PubMed2000

Growth failure, intracranial calcifications, acquired pancytopenia, and unusual humoral immunodeficiency: a genetic syndrome?

We report on two children who may represent a novel syndrome consisting of a deficiency of immunoglobulin-bearing B lymphocytes and serum antibody, deficient intrauterine and/or postnatal growth, intracranial calcifications, and acquired pancytopenia. Poor growth, intracranial calcifications, developmental delay, and hematological abnormalities are common manifestations of congenital infection. However, humoral immunodeficiency is not characteristic in these infections, and no infection was found on extensive evaluation. Rare genetic syndromes may mimic intrauterine infections and may also include immunodeficiency. However the children reported here lack important characteristics or share distinctive manifestations not described in these disorders. Infants presenting with apparent congenital infections in whom a specific infectious cause cannot be identified should be followed carefully with immunological evaluations since this disorder may be progressive and considerable morbidity is attributable to hematological and immunological manifestations.

Brain Diseases↗
PubMed2000

Metronidazole to prevent preterm delivery in pregnant women with asymptomatic bacterial vaginosis. National Institute of Child Health and Human Development Network of Maternal-Fetal Medicine Units.

BACKGROUND: Bacterial vaginosis has been associated with preterm birth. In clinical trials, the treatment of bacterial vaginosis in pregnant women who previously had a preterm delivery reduced the risk of recurrence. METHODS: To determine whether treating women in a general obstetrical population who have asymptomatic bacterial vaginosis (as diagnosed on the basis of vaginal Gram's staining and pH) prevents preterm delivery, we randomly assigned 1953 women who were 16 to less than 24 weeks pregnant to receive two 2-g doses of metronidazole or placebo. The diagnostic studies were repeated and a second treatment was administered to all the women at 24 to less than 30 weeks' gestation. The primary outcome was the rate of delivery before 37 weeks' gestation. RESULTS: Bacterial vaginosis resolved in 657 of 845 women who had follow-up Gram's staining in the metronidazole group (77.8 percent) and 321 of 859 women in the placebo group (37.4 percent). Data on the time and characteristics of delivery were available for 953 women in the metronidazole group and 966 in the placebo group. Preterm delivery occurred in 116 women in the metronidazole group (12.2 percent) and 121 women in the placebo group (12.5 percent) (relative risk, 1.0; 95 percent confidence interval, 0.8 to 1.2). Treatment did not prevent preterm deliveries that resulted from spontaneous labor (5.1 percent in the metronidazole group vs. 5.7 percent in the placebo group) or spontaneous rupture of the membranes (4.2 percent vs. 3.7 percent), nor did it prevent delivery before 32 weeks (2.3 percent vs. 2.7 percent). Treatment with metronidazole did not reduce the occurrence of preterm labor, intraamniotic or postpartum infections, neonatal sepsis, or admission of the infant to the neonatal intensive care unit. CONCLUSIONS: The treatment of asymptomatic bacterial vaginosis in pregnant women does not reduce the occurrence of preterm delivery or other adverse perinatal outcomes.

Adult↗
PubMed2000

Mini-review: history of organized teratology information services in North America.

A history of the Organization of Teratology Information Services (OTIS) is presented in context of the history of teratology information services. During the late 1970s, teratology information services grew out of the need for current and accurate information about fetal effects of environmental exposures in pregnancy. Over the next decade, teratology information services networked and collaborated, developing their own professional organization. A description of the activities of OTIS is described.

Female↗
PubMed2000

Vaginal fetal fibronectin measurements from 8 to 22 weeks' gestation and subsequent spontaneous preterm birth.

OBJECTIVE: We sought to determine the range of fetal fibronectin values in the vagina from 8 to 22 weeks' gestation, the factors associated with both low and high values, and whether high values are associated with gestational age at birth. STUDY DESIGN: Vaginal fetal fibronectin was quantitatively determined in a prospective cohort study of 13,360 women being evaluated for participation in the National Institute of Child Health and Human Development Maternal-Fetal Medicine Unit treatment trials for bacterial vaginosis and Trichomonas vaginalis. Fetal fibronectin values were correlated with gestational age at screening, race, the presence of bacterial vaginosis and Trichomonas vaginalis, and gestational age at delivery. RESULTS: Vaginal fetal fibronectin values at each gestational age ranged from unmeasurable to >1000 ng/mL, with median values always being <10 ng/mL. Fetal fibronectin values declined progressively with increasing gestational age at sampling. Bacterial vaginosis and black race were associated with higher values, whereas nulliparity was associated with lower values. High values after 13 weeks' gestation were associated with a 2- to 3-fold increased risk of subsequent spontaneous preterm birth overall and a 4-fold increased risk of very early preterm birth. CONCLUSION: Elevated vaginal fetal fibronectin levels from 13 to 22 weeks' gestation are associated with a significantly increased risk of spontaneous preterm birth.

Black People↗
PubMed2000

Integrating prevention into obstetrics/gynecology.

Obstetricians and gynecologists play an important role in preventive medicine. A great deal of obstetrics and gynecology is dependent on the principles of preventive medicine, such as understanding populations, risk profiling, epidemiology, and statistics as they pertain to screening programs and prevention. Thus, it is reasonable that an ob-gyn clerkship be an integral part of a program to teach preventive medicine in a medical school. This article presents information about formats used to teach preventive medicine in ob-gyn, illustrated by specific programs at medical schools across the country. It also provides information about publications that are useful for designing and creating programs in introduce and/or integrate preventive medicine into ob-gyn clerkships and other parts of the undergraduate medicine curriculum. Obstetricians and gynecologists spend the majority of their time in the office, and most of their patient visits can be classified as preventive medicine visits. Medical students' education needs to reflect that focus. Among other things, ob-gyn must develop training directed toward students who do not intend to become obstetricians. A rotation in ob-gyn may be the only exposure a student has to health care that is specifically for women. Therefore, that clerkship must focus on preventive medicine for women as well as on treatment.

Clinical Clerkship↗
PubMed2000

Wolf-Hirschhorn syndrome (WHS): a history in pictures.

The Wolf-Hirschhorn syndrome (WHS) is a well known chromosomal disorder, due to a deletion of distal chromosome 4p. The classical gestalt is striking and poses few diagnostic problems. However, due to the difficulty of detecting very small deletions by standard cytogenetics, diagnosis can be sometimes very difficult, particularly in older patients. In this paper we show the changes, occurring over time, in facial appearance of affected individuals, to improve insight into the evolution of the phenotype, and to increase its diagnostic potential.

Abnormalities, Multiple↗
PubMed1999

Polytopic anomalies with agenesis of the lower vertebral column.

We describe clinical, pathological and radiological findings in 15 cases of sporadic and familial lower spine agenesis with additional anomalies of the axial skeleton and internal organs and speculate about the cause and pathogenesis of this malformation complex. We show that all of these findings are defects of blastogenesis, originate in the primary developmental field and/or the progenitor fields, thus representing polytopic field defects. This concept appears applicable in our cases and makes such terms such as "caudal regression syndrome" or "axial mesodermal dysplasia spectrum" redundant.

Abnormalities, Multiple↗
PubMed1999

Health supervision and anticipatory guidance of individuals with Wolf-Hirschhorn syndrome.

Wolf-Hirschhorn syndrome (WHS) is a well-known malformation syndrome due to microdeletion of the short arm of chromosome 4 (4p-). Almost 120 cases have been reported so far, yet there is still limited information on its natural history. It is generally thought that these children have severe developmental disabilities and tend to be mere survivors devoid of personality. It is evident to us [Battaglia et al., 1999a, 1999b], however, that individuals with WHS are capable of greater psychomotor development than previously suggested [Guthrie et al., 1971]. Thus, it is even more important to establish guidelines for health supervision and anticipatory guidance of such patients. This would help professionals and families in developing the most appropriate individualized plan for each child, in order to allow the maximum achievement possible. In the present article we propose guidelines for health supervision and anticipatory guidance of individuals with WHS. These guidelines derive from our experience with the natural history of several children, adolescents, and adults with WHS, gained through the literature, personal observation, and contacts with the national support groups in North America and Italy.

Abnormalities, Multiple↗