A newly identified aldolase B splicing mutation (G-->C, 5' intron 5) in hereditary fructose intolerance from New Zealand.
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Adult↗
Biomedical subjects
C L James
Publications and source records attributed to C L James.
Basal cell carcinoma with hyaline inclusions.
A 69 yr old man had a 4 mm basal cell carcinoma completely excised from the chin. Numerous hyaline cytoplasmic inclusions were contained within the tumor cells. The inclusions stained intensely red with Masson's trichrome, and immunocytochemically there was prominent rim labelling for keratins (bovine, callus and AE1/3) and muscle-specific actin, the latter more faintly decorating the centre of some inclusions. The inclusions were negative for antibodies to cytokeratin Cam5.2, epithelial membrane antigen (EMA), vimentin, S100, neurofilaments, glial fibrillary acidic protein (GFAP) and carcinoembryonic antigen (CEA) and there was no post Congo red apple green birefringence to indicate amyloid. Ultrastructure indicated the inclusions were composed of proteinaceous material surrounded by a defined rim of tonofilaments in cells showing no degenerative features. The findings suggested aberrant tumor cell keratinization. Familiarization with this rare variant of a common cutaneous carcinoma will alleviate diagnostic difficulties that may arise, particularly in superficial tumor curettage.
Aged↗
D1 dopamine agonist and antagonist effects on regional cerebral glucose utilization in rats with intact dopaminergic innervation.
The effects of stimulation and blockade of the D1 dopamine receptor on regional cerebral glucose utilization (RCGU) were studied using quantitative [14C]2-deoxyglucose autoradiography in naive rats. Systemic administration of the selective D1 antagonist, SCH 23390 (0.5 mg/kg), lowered glucose utilization by 24-28% in the globus pallidus, entopeduncular nucleus, subthalamic nucleus, substantia nigra pars reticulata (SNr), and motor cortex, suggesting that stimulation of the D1 receptor by endogenous dopamine contributes to basal metabolism in these regions. Administration of SCH 23390 increased RCGU in the lateral habenula, as do selective D2 antagonists. The selective D1 agonist, SKF 38393 (30 mg/kg), increased RCGU in the SNr (up 22%) without affecting the other brain regions which were examined. This modest increase contrasts with the large increase in RCGU (up 100-200%) in the SNr elicited by similar doses of SKF 38393 in rats with acute or chronic dopamine depletion. Systemic administration of amphetamine (5.0 mg/kg), a dopamine releasing agent, increased RCGU in the caudate-putamen (up 33%), globus pallidus (up 23%), subthalamic nucleus (up 46%), entopeduncular nucleus (up 78%), and SNr (up 72%) and lowered RCGU in the lateral habenula (down 43%). All of these amphetamine effects were blocked by pretreatment with either SCH 23390 (0.5 mg/kg) or eticlopride (2.0 mg/kg, a selective D2 antagonist). These results suggest that endogenous dopamine stimulates both D1 and D2 receptors in vivo and provide metabolic evidence to support the concept of a functional linkage of D1 and D2 receptor systems in animals with intact dopaminergic innervation.
2,3,4,5-Tetrahydro-7,8-dihydroxy-1-phenyl-1H-3-ben↗
Metastatic osteogenic sarcoma to the heart presenting as bacterial endocarditis.
A patient with metastatic osteogenic sarcoma involving the left atrium is described who presented with features of bacterial endocarditis. The source of infection was the adjacent esophagus into which the tumor had eroded. This case demonstrates that sarcomas metastasizing to the heart may result in a clinical condition indistinguishable from infective endocarditis. At post-mortem, careful dissection of cardiac metastases should be undertaken to check for possible esophageal involvement.
Adult↗
Myositis ossificans in childhood.
Myositis ossificans is a benign, localized, ossifying lesion of soft tissues that is rarely reported in young children. This paper describes two cases found in a search of the surgical biopsy files of the Adelaide Children's Hospital over the 30 yr period from 1962 to 1991, in boys both aged 7 yrs. Diagnosis was assisted by combined clinical, radiological and histopathological information (including an adequate well-orientated biopsy in Case 1 that demonstrated the characteristic growth pattern) enabling differentiation from other possibilities such as fibrodysplasia ossificans progressiva.
Child↗
Rapid development of dopaminergic supersensitivity in reserpine-treated rats demonstrated with 14C-2-deoxyglucose autoradiography.
Dopaminergic denervation supersensitivity has been implicated in the pathogenesis of levodopa-induced dyskinesias, the most common and limiting side effect in the drug treatment of Parkinson's disease, yet the mechanisms that mediate altered drug sensitivity remain poorly understood. In animals models, one key component of denervation supersensitivity is the enhanced efficacy of selective D1 agonists to stimulate locomotion. In rats with chronic dopamine depletion induced by 6-hydroxydopamine nigral lesion, the increased ability of D1 agonists to stimulate regional cerebral glucose utilization (RCGU) in the substantia nigra pars reticulata (SNr) has provided a metabolic correlate to the heightened motor response. In this study, we used the stimulation of RCGU in the SNr as a sensitive in vivo assay of D1 agonist effect to examine the time course of development of supersensitivity in rats following acute dopamine depletion with single doses of reserpine (5.0 mg/kg, i.p.) and alpha-methyl-p-tyrosine (AMPT; 100 mg/kg, i.p.). The stimulatory effect of the D1 agonist SKF 38393 (30 mg/kg) on RCGU in the SNr was first enhanced 6 hr after reserpine/AMPT injection and was maximally enhanced at 12-24 hr (relative 2-deoxyglucose uptake increased 32-51%; P less than 0.05). The response to SKF 38393 returned to control values 5 d after reserpine/AMPT injection. The single reserpine/AMPT injections depleted striatal dopamine to 1-2% of control values from 3-48 hr postinjection, whereas D1 and D2 dopamine receptor densities were unchanged at 24 hr.(ABSTRACT TRUNCATED AT 250 WORDS)
2,3,4,5-Tetrahydro-7,8-dihydroxy-1-phenyl-1H-3-ben↗
D1/D2 dopamine receptor stimulation by L-dopa. A [14C]-2-deoxyglucose autoradiographic study.
In rats with unilateral 6-hydroxydopamine substantia nigra lesions, the effects of selective D1 and D2 dopamine receptor antagonists on L-DOPA-induced rotation and regional cerebral glucose utilization (RCGU) changes were examined. Contralateral rotation induced by L-DOPA (25 mg/kg) was effectively blocked by D1 (SCH 23390, 1.0 mg/kg) and D2 (eticlopride, 2.0 mg/kg) antagonists, in combination, but not by either antagonist alone. This suggests that in the dopamine-depleted rat, L-DOPA administration results in the stimulation of both D1 and D2 receptor systems, each capable of independently eliciting a full motor response, L-DOPA altered RCGU in the following brain regions ipsilateral to the lesion: entopeduncular nucleus (EP, + 105%), substantia nigra pars reticulata (SNr, + 121%), subthalamic nucleus (STN, + 32%), deep layers of the superior colliculus (DLSC, + 35%), and lateral habenula nucleus (LHN, -52%). The effects in the EP and SNr were blocked completely by D1 antagonist pretreatment but only partially attenuated by D2 antagonist pretreatment, indicating the critical dependence of these changes on D1 stimulation. In contrast, combined D1 and D2 antagonist pretreatment, but neither drug alone, blocked the L-DOPA-induced increases in the STN and DLSC. The effects of L-DOPA in the LHN were attenuated by either SCH 23390 or eticlopride, and blocked completely by the antagonist combination. These results provide evidence that dopamine formed following the decarboxylation of L-DOPA stimulates both D1 and D2 receptors in vivo and that stimulation of each receptor contributes uniquely to its physiological effects. Neural mechanisms of action of L-DOPA are discussed in the context of these findings.
Animals↗
Cryptococcal epididymo-orchitis complicating steroid therapy for relapsing polychondritis.
Disseminated cryptococcosis is a known complication of steroid therapy. Infection within the genito-urinary tract is usually assumed to be part of generalized cryptococcosis complicating a primary pulmonary focus. A case of isolated testicular cryptococcal orchitis complicating steroid therapy for relapsing polychondritis is presented. To the authors' knowledge isolated cryptococcal orchitis has not been previously described.
Aged↗
Epithelioid leiomyosarcoma of the left atrium: immunohistochemical and ultrastructural findings.
Leiomyosarcomas of the heart are rare, with only 12 cases reported in the literature. An example of the epithelioid variant of leiomyosarcoma is described. The tumour cells expressed vimentin, desmin, muscle-specific actin and smooth muscle-specific actin. In addition, they were also labelled by monoclonal and polyclonal antibodies to cytokeratin intermediate filaments and displayed cell junctions at the ultrastructural level, features which highlight the potential pitfalls in the application of immunohistochemistry and electron microscopy in the diagnosis of poorly differentiated tumours.
Female↗
Treating intra-abdominal infections with clindamycin.
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Abdomen↗
Total anomalous pulmonary venous drainage associated with fatal outcome in infancy and early childhood: an autopsy study of 52 cases.
Clinicopathological details of 52 cases of total anomalous pulmonary venous drainage (TAPVD) taken from pediatric autopsy files from hospitals in Adelaide (Australia) Oxford and Edinburgh (United Kingdom) between 1957 and 1990 are presented. The patients ranged in age from a stillborn girl to a 15-month-old boy, with 42 cases (81%) dying in the first 3 months of life. While many patients had signs of a congenital cardiovascular anomaly prior to death, including tachypnea, tachycardia, central cyanosis, cardiac failure, heart murmurs, and difficulty in feeding, it was noteworthy that eight patients (16%) presented as sudden and unexpected death in the absence of significant antemortem symptoms and signs. Anomalous pulmonary venous drainage was also unsuspected prior to death in a total of 26 cases (53%) of those where relevant history was available (49 cases). Twelve infants (23%) underwent surgical correction, none of whom survived more than several weeks. TAPVD was isolated in 30 cases (58%) and was associated with other cardiac or congenital anomalies in 22 patients (42%). Just under half of nonisolated cases comprised the asplenia-heterotaxy syndrome. The points of drainage of the anomalous pulmonary veins were to the infradiaphragmatic veins (n = 21, 40%), left innominate vein (n = 13, 25%), coronary sinus (n = 7, 13%), right superior vena cava (n = 4, 8%), inferior vena cava above the diaphragm (n = 2, 4%), right innominate vein (n = 2, 4%), mixed left innominate vein and coronary sinus (n = 1, 2%), azygos vein (n = 1, 2%), and mixed right superior vena cava and left hemiazygos vein (n = 1, 2%). Twenty-three of 47 cases (49%) that were specifically examined revealed obstruction of the pulmonary veins or pulmonary hypertensive vascular changes on histology. These results emphasize that TAPVD needs to be excluded at autopsy as a causal factor in cases of sudden infant death even in the absence of antemortem symptoms and signs. Clues at autopsy include abnormal mobility of the heart, visceral situs inversus, and polyasplenia. The diversity of pulmonary-systemic venous anastomoses necessitates careful in situ dissection above and below the diaphragm and consideration of postmortem angiography.
Autopsy↗