Preaxial polydactyly of the foot associated with early amnion rupture: evidence for mechanical teratogenesis?
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Biomedical subjects
Publications and source records attributed to J M Graham.
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The features of 27 cases of limb/body wall deficiency (formerly termed cyllosomus and pleurosomus) were evaluated and the anomalies were interpreted as being band-related defects and/or compression-related defects. The latter included limb deficiency, body wall deficiency, neural tube defects, scoliosis, postural deformations, growth deficiency, and short umbilical cord. It is hypothesized that the single event of early amnion rupture can explain both the band-related defects and the compression-related defects. Experimental animal studies are in accord with this hypothesis; amnion puncture of rat fetuses during early gestation produces a comparable array of defects. The term amnion rupture sequence is suggested to describe the overall pattern of malformation that results from amnion rupture whether these defects are band related, compression related, or a combination of the two. There is considerable variation in the phenotype of amnion rupture sequence, with limb/body wall deficiency representing the more severe end of the spectrum. It is important to recognize and correctly diagnose amnion rupture sequence because it is usually a sporadic event.
A patient with 46, XY/69,XXY mixoploidy (a mixture of cell populations whose component cells differ in their chromosome numbers, irrespective of whether these numbers are euploid or aneuploid) who had some clinical manifestations of the Russell-Silver syndrome is reported. Triploidy results in a clinically recognizable lethal syndrome with hydatidiform placental changes, severe intrauterine growth deficiency, dysplastic cranial bones, eye defects, cleft lip and/or, palate malformed ears, micrognathia, syndactyly, genital anomalies and, rarely, spina bifida. Less severe are instances of diploid-triploid mixoploidy and patients are more likely to survive; one of these patients was detected at birth because of asymmetric growth deficiency with syndactyly. Cytogenetic and flow cytometric studies demonstrated absence of triploid cells in peripheral lymphocytes while varying proportions of triploid cells were found in fibroblast cultures derived from each limb. The triploid cell population disappeared with prolonged cell culture. Replication studies with 5-bromodeoxyuridine-DAPI fluorescence revealed two active X chromosomes, and marker chromosomes suggested a paternal origin for the extra haploid set. The following points are emphasized: (1) diploid-triploid mixoploidy can be suspected clinically; (2) the triploid cell population may not be detectable on examination of peripheral blood (3) the relative degree of asymmetry in the growth deficiency does not appear to relate to the proportion of triploid cells; and (4) both X chromosomes may remain active in the presence of an extra haploid set of chromosomes.
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Victims of gunshot wounds may be noted to have bullets overlying the cardiac silhouette on roentgenogram. Direct cardiac penetration, bullet embolus to the heart, and missile proximity to the heart are all possibilities which must be differentiated. An unusual case of bullet embolism is presented in which thoracotomy was initially performed to rule out direct cardiac penetration. At the time of exploration, an intracardiac bullet embolus was fortuitously palpated and trapped within the apex of the right ventricle. Right ventriculotomy and embolectomy without cardiopulmonary bypass were performed to prevent retrograde or distal migration.
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An analysis of 28 dysmorphic offspring with a retrospectively ascertained history of maternal hyperthermia during the first trimester of pregnancy showed a similarity in their pattern of CNS dysfunction and facial dysmorphogenesis. All survivors had mental deficiency and most of them demonstrated altered muscle tone, including hypotonia with increased deep tendon reflexes. Those exposed at four to seven weeks' gestation showed an increased prevalence of facial dysmorphogenesis. The duration of the high fever was usually one or more days, an unusual occurrence during the first trimester of pregnancy. The nature of these defects in relation to the relative timing of hyperthermia exposure is similar to that previously noted in animal studies. The morphogenetic implications of these findings are explored and the need for larger, controlled studies is suggested.
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A classical conditioning paradigm was used to demonstrate that male rats can learn to secrete luteinizing hormone and testosterone in anticipation of sexual activity. Sexually naïve males were exposed to a neutral stimulus and then to a sexually receptive female once daily. After exposure to the paired stimuli for 14 trials, the neutral stimulus was as effective as the female in triggering luteinizing hormone and testosterone secretion. These findings provide two novel perspectives on the control of reproductive hormone secretion in male rats: (i) environmental cues, which males learn to associate with sexual activity, induce the secretion of hormones that regulate pituitary-testis function, and (ii) classical conditioning may be used as a noninvasive method to evoke functional alterations in the secretion of luteinizing hormone and presumably the neuroendocrine pathways that mediate its release.
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Experience with 19 surgically resected aneurysms of the splanchnic artery is reviewed. In contrast to early series and cases reported, all patients but one were operated on electively. The only death occurred in a patient with a ruptured celiac artery aneurysm. Long-term follow-up has revealed continuing good results, and the subsequent formation of a visceral artery aneurysm in another location in one patient.
One hundred fifty-four patients with renovascular injuries were analyzed to gain insight into the mortality, morbidity and indications for immediate nephrectomy versus arterial revascularization. Arterial revascularization is seldom indicated in patients with a normal contralateral kidney who have multiple associated injuries, hilar injuries, long segmental arterial injuries or prolonged renal ischemia. An attempt at renal artery revascularization is justified with bilateral injuries, when only one kidney is present or when a solitary artery injury can be repaired by simple lateral arteriorrhaphy.
Appendicitis in preschool children is not uncommon. A duration of greater than 40 hours usually implied perforation. The most common findings were abdominal pain, tenderness, temperature elevation and vomiting. In the presence of perforation or abscess formation, appendectomy followed by copious wound irrigation, abscess drainage and delayed secondary wound closure is the procedure of choice.
Seven instances of limb reduction defects are reported with a presumed common underlying etiologic theme of early in utero limb compression, deduced as being due to a bicornuate uterus in four instances, a large fibroid in one instance, and early amnion rupture with transient amniotic fluid loss in two instances. Similar types of limb reduction defects have been experimentally produced as a consequence of early withdrawal of amniotic fluid with resultant compression of the developing limbs, leading to vascular disruption. A similar mechanism is hypothesized to have caused these seven instances of limb reduction defects.
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