PRENATAL DIAGNOSIS OF METHYLMALONIC ACIDURIA

Abstract. Mahoney, M. J., Rosenberg, L. E., Lindblad, B., Waldenström, J. and Zetterström, R. (Departments of Human Genetics and Pediatrics, Yale University, New Haven, USA, the Department of Clinical Chemistry, University of Gothenburg, Gothenburg, Sweden and the Department of Pediatrics, Karolinska Institutet, St. Göran's Hospital for Children, Stockholm, Sweden). Prenatal diagnosis of methylmalonic aciduria. Acta Paediatr Scand, 64: 44, 1975.–Prenatal diagnosis using amniocentesis was sought in two midtrimester pregnancies, each at risk for a different type of inherited methylmalonic aciduria. In one pregnancy a normal fetus was diagnosed from studies of cultured amniotic fluid cells and the diagnosis confirmed after the baby was born. In the second pregnancy a fetus with a methylmalonyl-CoA mutase apoenzyme defect was found. The diagnosis was based on Cultured cell studies and supported by an elevation of methyl-malonate in both amniotic fluid and maternal urine. Confirmatory studies were obtained using cultured cells from the aborted fetus. At the present time, assays of cultured amniotic fluid cells are imperative for firm diagnosis. With more experience, quantities of amniotic fluid and maternal urine methylmalonate may prove sufficient if differentiation among the various types of methylmalonic aciduria is not required.     

多发性大动脉炎的麻醉

０引言多发性大动脉炎尤其侵及双侧颈总动脉、双锁骨下动脉及无名动脉罕见,我院心脏外科及血管外科近日联合手术１例该病例,现简述其麻醉特点及特殊处理．１临床资料女性,３０岁,５０ｋｇ,头晕,头昏伴心悸,出汗,双上肢冰凉,麻木,查血压右上肢０／０ｋＰａ,右下...     

Ciliary motility at light microscopy: a screening technique for ciliary defects?

To verify whether or not ciliary motility can be reliably assessed by light microscopy alone, we examined the nasal brushings of 53 patients with suspected ciliary dyskinesia and 10 healthy controls. The results of light microscopy were compared with cilia ultrastructure assessed with electron microscopy. Ciliary motility was significantly related with cilia ultrastructure. However, eight cases of lung disease due to bronchiectasis of unknown origin had immotile cilia on light microscopy, but normal ciliary ultrastructure on electron microscopy. Instances of normal and abnormal ultrastructure were detected in one case with motile cilia. There was an 83% agreement between electron microscopy and light microscopy. Sensitivity and specificity of light microscopy were 92% and 80%, respectively. In conclusion, light microscopy evaluation of ciliary motility does not appear to be a reliable screening test for ciliary dyskinesia because it does not quantify ciliary beat activity, which is a criterion for deranged ciliary motion. A complete evaluation of ciliary ultrastructure together with in vivo, if applicable, or in vitro function test (namely, the analysis of ciliary beat frequencies and/or waveform) is required for a definite diagnosis of ciliary dyskinesia.     

The Clinical Utility of Pacemaker Follow-up Visits

Because of the increased complexity of modern pacemakers, pacemaker follow-up visits in specialized centers become more and more indispensable. In this study, the results of 15,000 outpatient visits to the cardiac pacing center between the years 1983–1985 are presented. In most cases (92.8%), verification of normal function was made; however, mandatory reprogramming was required in 1.2%, and hospitalization for various reasons was required in 6% of visits. Careful outpatient monitoring of pacemakers is therefore very important for detecting early or late pacemaker complications.     

Inhibition by chlordiazepoxide of adenosine-stimulated glucagon secretion

The action of a water soluble benzodiazepine, chlordiazepoxide (CDZ) on the stimulatory effect of adenosine on glucagon secretion from the isolated pancreas of the rat perfused in presence of 2.8 mM glucose was studied. CDZ 10(-7) and 10(-6) M had no effect per se on glucagon secretion under our experimental conditions. In contrast, CDZ 10(-6) M (but not 10(-7) M) markedly reduced the peak of glucagon secretion provoked by adenosine, 2-chloroadenosine (1.65 C 10(-6) M) and by a stable analogue, 5'-N-ethylcarboxamidoadenosine or NECA (1.65 X 10(-8) M). This peripheral interaction between CDZ and adenosine seemed to be specific, since CDZ did not modify the peak of glucagon secretion induced by (-)isoproterenol (10(-8) M). Our results demonstrate an inhibitory effect of CDZ on adenosine-stimulated glucagon secretion.     

Pulmonary embolism after hip or knee replacement: postoperative changes on pulmonary scintigrams in asymptomatic patients

Serial pulmonary imaging has proved to be effective in the evaluation of patients undergoing total joint arthroplasty. A clinical dilemma arises in asymptomatic patients whose postoperative pulmonary images differ from the preoperative images. The authors prospectively evaluated 403 patients with serial imaging to determine the significance of changed postoperative images in asymptomatic patients undergoing total hip or knee arthroplasty. Twenty-two (5.5%) patients had significant changes on postoperative images. Seventeen were asymptomatic; all but one underwent pulmonary angiography. Documented pulmonary emboli were demonstrated in 100% of patients whose postoperative images changed to indicate a high probability of pulmonary embolism, 71% whose images changed to a moderate probability, and 0% whose images changed to indeterminate probability. Overall, pulmonary emboli occurred in 76% of all asymptomatic patients with significantly change postoperative images. Asymptomatic pulmonary embolism is a significant occurrence after total hip or knee repair, and a changed lung scan with appropriate clinical evaluation is an accurate indicator of pulmonary emboli in asymptomatic postarthroplasty patients.     

From the brain to bad behaviour and back again: Neurocognitive and psychobiological mechanisms of driving while impaired by alcohol

Issues. Driving while impaired by alcohol (DWI) is responsible for substantial mortality and injury. Significant gaps in our understanding of DWI re‐offending, or recidivism, reduce our ability to practically assess recidivism probability and to match interventions to individual risk profiles. These shortcomings reflect the baffling heterogeneity in the DWI population and the limited focus of much existing DWI recidivism research to psychosocial, psychological and substance use correlates. Approach. This narrative review summarises the evidence for the contribution of neurocognitive and psychobiological mechanisms to DWI behaviour and recidivism. Given the nascent nature of this literature, insight into the putative contribution of these mechanisms to DWI is also drawn from other experimental literatures, particularly those on alcohol use disorders and cognitive and behavioural neuroscience. Key Findings. Alcohol‐related neurotoxicity and dysregulation of hypothalamic–pituitary–adrenal axis and serotonergic systems may underlie certain offender characteristics consistently correlated with heightened DWI risk, persistence and intervention resistance. Their markers are less vulnerable to sources of bias than subjective psychosocial indices and are more far‐reaching than alcohol abuse in explaining DWI behaviour and recidivism. Implications. The investigation of neurocognitive and psychobiological mechanisms in DWI research is a promising avenue for discerning clinically meaningful subgroups within the DWI population. This can lead to research and development in alternative assessment and more targeted intervention technologies. Conclusion. Multidimensional research in DWI and recidivism offers novel avenues for increasing road safety.[Brown TG, Ouimet MC, Nadeau L, Gianoulakis C, Lepage M, Tremblay J, Dongier M. From the brain to bad behaviour and back again: Neurocognitive and psychobiological mechanisms of driving while impaired by alcohol. Drug Alcohol Rev 2009;28:406–418]