ABSTRACT
The group of acrofacial dysostosis (AFD) syndromes is very heterogeneous and contains many different entities. In 1990, Rodriguez et al. [1990: Am J Med Genet 35:484-489] described a new type of AFD characterized by severe mandibular hypoplasia, phocomelia and oligodactyly of the upper limbs, absence of fibulae, microtia, cleft palate, internal organ anomalies including arrhinencephaly and abnormal lung lobulation, and early lethality. We describe another case of AFD type Rodriguez, identified by prenatal ultrasonography at 25 weeks of gestation.
Subject(s)
Abnormalities, Multiple/diagnostic imaging , Hand Deformities, Congenital/diagnostic imaging , Mandibulofacial Dysostosis/diagnostic imaging , Abnormalities, Multiple/embryology , Abortion, Induced , Adult , Female , Hand Deformities, Congenital/embryology , Humans , Mandibulofacial Dysostosis/embryology , Pregnancy , Prenatal Diagnosis , Syndrome , Ultrasonography, PrenatalABSTRACT
AIM: The aim of this retrospective study was to measure the accuracy of stereotactic guided 14 gauge core biopsy in distinguishing between benign and malignant causes of a mammographically detected stellate breast lesion and to assess the impact of the number of core samples taken on the sensitivity for detection of malignancy. MATERIALS AND METHODS: Seventy-two patients with mammographically detected stellate lesions of the breast formed the study group. All patients in the study group underwent multiple 14 gauge core biopsies using prone stereotactic breast biopsy equipment. The diagnostic accuracy of the technique was measured by retrospectively comparing the outcome with the core biopsy results. The result of each core sample was separately recorded to allow analysis of the effect of increasing the number of samples on accuracy. RESULTS: Nine of 72 (12%) did not have surgery. Forty of 72 (56%) had a benign surgical outcome and 23/72 (32%) a malignant surgical outcome [7/72 (10%) non-invasive, 16/72 (22%) invasive carcinoma]. The absolute sensitivity for multiple stereotactic guided core biopsies of stellate lesions for the detection of malignancy was 78% with a complete sensitivity of 100%. The sensitivity for the detection of invasive carcinoma was 94% (15 out of 16 patients). No statistically significant improvement in sensitivity was shown for multiple samples vs one sample, but in two patients, malignant tissue was only found in core samples 6-9, the first five cores showing atypia only. CONCLUSION: Multiple stereotactic guided 14 gauge core biopsies accurately distinguish malignant from benign causes of stellate breast lesions. When core biopsy histology is malignant, therapeutic surgery can be planned. When the core biopsy shows typical features of a benign radial scar, diagnostic surgical excision may not be required to confirm the diagnosis.Kirwan, S. E., (2000). Clinical Radiology55, 763-766.
Subject(s)
Breast Neoplasms/pathology , Biopsy, Needle/methods , Breast Neoplasms/diagnostic imaging , Breast Neoplasms/surgery , Diagnosis, Differential , Female , Humans , Mammography , Retrospective Studies , Sensitivity and SpecificityABSTRACT
We describe an infant born at 29 weeks' gestation with oligohydramnios sequence due to amniotic fluid leakage following chorionic villus sampling at 12 weeks. To our knowledge, this is the first such report.
Subject(s)
Chorionic Villi Sampling/adverse effects , Oligohydramnios/etiology , Adult , Chorioamnionitis/complications , Female , Humans , Infant, Newborn , Male , Obstetric Labor, Premature/etiology , Oligohydramnios/complications , PregnancyABSTRACT
Our goal was to compare and contrast in the same normal twins the relative contribution of genetic and environmental factors to large interindividual variations in the metabolism of acetaminophen (APAP) and antipyrine. These drugs were selected because they are biotransformed by different mechanisms. A single oral dose of APAP (10 mg/kg) was given to six sets of monozygotic (MZ) and six sets of dizygotic (DZ) twins. All were normal, nonsmoking, nonmedicated, and male. Among these 24 subjects, there were 300% interindividual variations in rate constants for formation of the sulfate and glucuronide conjugates, as well as in the overall rate constant for APAP elimination. Intratwin variations for each measurement were as large within MZ as within DZ twinships, suggesting that predominantly environmental rather than genetic factors maintained interindividual variations. Two other observations support this conclusion: Intraindividual variations were frequently as large as interindividual variations, and regardless of zygosity for twins living together, intratwin correlation coefficients were almost twice those of twins living apart. Quite different results were obtained when these twins received antipyrine. After a single oral dose of antipyrine (18 mg/kg), 500% interindividual variations in rate constants for formation of the three main oxidative metabolites of antipyrine appeared to be mainly under genetic control. Also for antipyrine and its principal metabolites, intraindividual variations were much smaller than interindividual variations. In contrast to the results with APAP, regardless of zygosity, intratwin correlation coefficients for antipyrine were similar for twins living apart and twins living together. This comparison between APAP and antipyrine metabolism in the same carefully selected normal twins under apparently uniform environmental conditions reveals that interindividual variations in APAP metabolism arise from certain unidentified environmental factors, whereas genetic factors cause the large interindividual variations that occur in antipyrine disposition.
