Sacrococcygeal teratoma in two cases of Sotos syndrome.
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Bone Neoplasms↗
Biomedical subjects
L H Honoré
Publications and source records attributed to L H Honoré.
Is there an association of Down syndrome and omphalocele?
The possible association of Down syndrome (DS) with omphalocele is controversial. We reviewed the 2,979 live births and stillbirths with DS born from 1983 to 1993 in the catchment area of the California Birth Defects Monitoring Program (CBDMP). We observed one infant with both defects, a number that did not differ significantly from what was expected (P < 0.40). We also reviewed the pathological reports of one of us (L.H.H.) from a series of 36 DS fetuses and neonatal deaths; none had an omphalocele. We then reviewed the literature for epidemiological studies of DS and for epidemiological, surgical, prenatal, and familial studies of omphalocele. Possible biases inherent in each type of study were evaluated. The majority of epidemiological studies showed no association of DS with omphalocele. In surgical series, the occasional infant with both defects was more likely to undergo surgery than infants with omphalocele and trisomies 13 and 18 or other severe birth defects. Inclusion of both omphalocele and umbilical hernia in the same ICD-9 code may explain some of the correlations with DS noticed in a few epidemiological studies. In conclusion, our data suggest that trisomy 21 does not predispose the fetus to an increased risk for an omphalocele.
Down Syndrome↗
Is cotyledonoid dissecting leiomyoma of the uterus (Sternberg tumor) identical with grapelike leiomyoma of the uterus?
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Adult↗
Pathology of female infertility.
This review concentrates on the structural and functional aspects of lesions of the female genital tract that cause infertility, including cervical changes after treatment for neoplasia, uterine malformations, leiomyoma, endometrial aberrations, infection-related tubal lesions, ovarian disorders (oocyte defects, premature ovarian failure, corpus luteum dysfunction, and polycystic ovary-related abnormalities), and endometriosis.
Biopsy↗
Exfoliative cytology of adenoma malignum (minimal deviation adenocarcinoma) of the uterine cervix.
Cervical scraping smears from two cases of histologically confirmed adenoma malignum of the uterine cervix were reviewed. In one case, several irregular sheets of benign-appearing glandular cells with slightly enlarged nuclei, conspicuous nucleoli, and clear cytoplasm were found. In the other case, in addition to sheets of benign-appearing glandular cells, there were clustered malignant glandular cells with prominent nucleoli. The sheets of benign-appearing glandular cells in both cases displayed wispy cytoplasmic extensions or "tails." Cytologic differential diagnosis with other glandular lesions of the cervix such as clear cell carcinoma, microglandular hyperplasia, diffuse laminar glandular hyperplasia, tubal metaplasia, and well-differentiated invasive or in situ adenocarcinoma is briefly discussed.
Adenocarcinoma↗
Pathology of female infertility.
This review focuses on infertility-related anatomical (ligneous cervicitis and postsurgical stenosis) and functional (abnormal mucus production, local cervical isoimmunity, and incompetence) disorders of the cervix, congenital anomalies, and underperfusion of the uterine corpus, myometrial lesions, endometrial failure, tubal obstruction, polycystic ovary syndrome, and endometriosis.
Female↗
Possible association between the hernia of Morgagni and trisomy 21.
Of the 5 liveborn infants with the hernia of Morgagni recorded in the California Birth Defects Monitoring Program, 3 had trisomy 21. This significant association (P < 10(-6)) between the hernia of Morgagni and trisomy 21 may reflect defective dorsoventral migration of rhabdomyoblasts from the paraxial myotomes, caused by increased cellular adhesiveness in trisomy 21.
Cell Movement↗
Amplification of the gene encoding the alpha-subunit of the mitochondrial ATP synthase complex in a human retinoblastoma cell line.
A cDNA clone encoding the precursor of the alpha-subunit of the human mitochondrial ATP synthase (F1-ATPS) complex was isolated from a library prepared from the poly(A)+ RNA present in a retinoblastoma (RB) cell line. Northern blot analysis of RNAs derived from a variety of transformed cell lines as well as from normal human fetal tissues indicated that RNA expression was significantly higher in two of the four RB cell lines analysed, Y79 (10- to 30-fold) and RB522A (3- to 8-fold), than in other cell lines or tissues. The increased mRNA level was apparently the result of gene amplification in Y79, but not in RB522A.
Amino Acid Sequence↗
A population-based study of congenital diaphragmatic hernia.
From 1983 through 1987, in a California population of 718,208 births, 237 infants were born with a congenital diaphragmatic hernia (CDH), a birth prevalence of 3.30 per 10,000 total births (live births and stillbirths). We proposed that the various types of this defect, characterized by their different pathogeneses, would be reflected in differences in their descriptive epidemiologies. We evaluated various demographic, maternal, and infant characteristics for three major types of defects, the Morgagni hernia, the pars sternalis hernia, and the posterolateral hernia, categorizing the latter type into isolated defect (N = 129), multiple congenital anomalies including nonchromosomal syndromes (N = 86), trisomies (N = 10), and chromosomal anomalies other than trisomies (N = 2). For the posterolateral hernia, we present the distribution of associated anomalies (43%) and specifically of midline defects (19%). Although the number of cases for the Morgagni hernia (N = 5) and the pars sternalis hernia (N = 5) were small, comparisons with the posterolateral hernia suggested lower sex ratios, of borderline significance for the pars sternalis hernia (P < 0.09), and higher mean maternal ages for both groups. Within the posterolateral type, we found a significantly higher male to female ratio (M/F = 1.58) only for the isolated subgroup compared to the population (P < 0.03), and a borderline significant rural/urban difference in prevalences (2.12 vs. 1.45 per 10,000) (P < 0.06). Additionally, the distribution of monthly prevalence rates adjusted for gestational age suggested opposite seasonal trends between the isolated and the other posterolateral hernias; within this latter subgroup the difference between the highest monthly rate (1.68) and the lowest (0.96) was of borderline significance (P < 0.09). Our results suggest the need to consider the respective types and subgroups of CDH separately in epidemiologic studies.
Abnormalities, Multiple↗
Partial hydatidiform moles have impaired differentiated function (human chorionic gonadotropin and human placental lactogen secretion) in response to epidermal growth factor and 8-bromo-cyclic adenosine monophosphate.
OBJECTIVE: The null hypothesis is that partial hydatidiform moles have normal differentiated function (human chorionic gonadotropin and human placental lactogen secretion) in response to epidermal growth factor and 8-bromo-cyclic adenosine monophosphate. STUDY DESIGN: Two complete moles, 10 partial hydatidiform moles, and 19 normal first-trimester placentas in monolayer culture were exposed to 10 ng/ml epidermal growth factor, 1 mmol/L 8-bromo-cyclic adenosine monophosphate plus 1 mmol/L theophylline, or control. Human chorionic gonadotropin and human placental lactogen secretion was measured. Frequency of response to stimuli was compared by chi 2 analysis, and hormone secretion was compared by analysis of variance. RESULTS: Partial moles demonstrated reduced frequencies of response of human chorionic gonadotropin and human placental lactogen to epidermal growth factor (partial moles 2/8 and 2/8, respectively; normal placentas 16/19 and 7/18, respectively; p less than 0.025) and of human chorionic gonadotropin to 8-bromo-cyclic adenosine monophosphate (partial moles 3/5, normal placentas 13/16; p less than 0.005). CONCLUSION: Partial hydatidiform moles demonstrate impaired human chorionic gonadotropin and human placental lactogen secretory responsiveness to epidermal growth factor and cyclic nucleotides in comparison with normal first-trimester trophoblast.
8-Bromo Cyclic Adenosine Monophosphate↗
Postmenopausal hyperandrogenism of ovarian origin. A clinicopathologic study of four cases.
Postmenopausal hyperandrogenism with overt clinical effects is rare and often related to ovarian stromal disorders. We present a clinicopathologic study of 4 cases. The patients (age range 41-75 years; mean 62 years) had evidence of hirsutism or frank virilization. Their serum testosterone was elevated with or without increases in their serum androstenedione and DHEA levels. There were two right-ovarian hilus cell tumors, one associated with left-ovarian stromal hyperplasia and the other with bilateral hyperthecosis and nodular hilus cell hyperplasia. The other tumor was a small corticomedullary stromal luteoma with bilateral hyperthecosis and nodular hilus cell hyperplasia. The fourth patient had bilateral hilus cell hyperplasia with mild cortical-stromal hyperplasia. All these patients had rapid normalization of androgen levels after surgery without recurrence after a 2- to 10-year follow-up.
Adult↗
Postsalpingostomy intercornual bridging with hematosalpinx, chronic salpingitis and perisalpingeal endometriosis. A case report.
Two years after a left salpingo-oophorectomy for a tuboovarian mass from endometriosis and a right salpingostomy for hydrosalpinx, a 28-year-old, infertile woman underwent pelvic surgery for severe pain and progressive endometriosis. The closed, swollen tube arched over the posterior aspect of the uterus, bridging the two cornua; it was filled with blood and showed severe chronic salpingitis and widespread perisalpingeal endometriosis.
Adult↗
Inherent radiosensitivity testing of tumor biopsies obtained from patients with carcinoma of the cervix or endometrium.
The inherent radiosensitivity of tumor biopsies obtained from a series of patients with carcinoma of the uterine cervix or endometrium has been characterized. Early passage cell lines were irradiated and assayed for cell survival using a clonogenic assay system. Survival curves were generated using the alpha/beta model and the surviving fraction at 2 Gy (SF2) was estimated. A wide range of SF2 values was observed among histologically similar tumors. The mean (+/- SD) SF2 value was 0.29 +/- 0.12 (range = 0.11-0.59) for the cervical biopsies and 0.30 +/- 0.13 (range = 0.11-0.67) for the endometrial biopsies. No correlation between inherent radiosensitivity and tumor DNA index or histopathology was observed. Patient accrual continues with the expectation that these results may help to determine whether SF2 values are of clinical value in predicting the response of individual patients to treatment with radiotherapy.
Biopsy↗
Comparison of oral contraceptive use in women with adenocarcinoma and squamous cell carcinoma of the uterine cervix.
The possible link between oral contraceptives (OCs) and cervical adenocarcinoma was tested by a case-case study of prior and current OC use in women with adenocarcinoma and squamous cell carcinoma. Cases were matched by age, year of diagnosis, and stage of the lesion, and personal, reproductive, and contraceptive data were obtained by mailed questionnaires. Except for smoking, which was significantly more prevalent in women with squamous cell carcinoma, the two groups were identical, with similar OC exposure. This study does not support the idea that OCs modulate the expression of cervical neoplasia in favor of adenocarcinoma.
Adenocarcinoma↗
Striated muscle heteroplasia in the uterine round ligament. A report of 30 cases.
The presence of nonneoplastic mature striated muscle, ie, striated muscle heteroplasia, is described in the proximal stumps of the round ligaments of the uterus. It was an incidental finding in 30 (2.8%) of 1064 surgical specimens studied without clinical or pathologic significance. It is deemed to represent aberrant persistence, differentiation, and maturation of gubernacular rhabdomyoblasts, which normally involute in female fetuses. The reasons for its sporadic occurrence in normal adult women are unknown.
Adult↗
A protocol for the investigation of pregnancy loss.
A protocol for the evaluation of pregnancy loss should include a maternal history, dysmorphic examination of the fetus or abortus, photographs, autopsy, chromosome studies (in most cases), and radiographic or xeroradiographic studies. Selected cases with suspected ascending or transplacental infection may require microbiologic investigation. Increasing specialized laboratory techniques may help in the diagnosis of inborn errors of metabolism or storage disorders. Coordination of studies requires the interaction of OB/GYN, pathology, genetics, cytogenetics, and nursing in order to assure delivery of this clinical service. Knowledge of the causes of pregnancy loss and their typical time and mode of presentation can facilitate a focused evaluation, with a high chance of achieving an accurate diagnosis. The goal of all investigations is to provide families with recurrence risk data on which to base future childbearing decisions, as well as information on potential prenatal monitoring.
Clinical Protocols↗
Intervillous placental metastasis with maternal myeloid leukemia.
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Adult↗
Microscopic study of holoprosencephalic facial anomalies in trisomy 13 fetuses.
The cerebral and facial anatomy of four trisomy 13 fetuses was studied in order to delineate the varying degrees of expression of severity of holoprosencephaly. Fetal heads were serially sectioned and analyzed microscopically in the horizontal plane. Examples of cyclopia, cebocephaly, and a proposed new category, premaxillary dysgenesis, were studied. The last category represents the least severe end of the facial spectrum of holoprosencephaly in this series. In this condition, there are deficiencies or clefts within the premaxilla, in contrast to the usual site of clefting between the maxilla and the premaxilla. There is asymmetry of the defects in the anterior midface of all four cases.
Abnormalities, Multiple↗