תוצאת חיפוש

Carnitine Deficiency in Inborn Errors of Metabolism

B.-A. Sela, T. Lerman-Sagie, M. Berkovitz

Institute of Chemical Pathology, Chaim Sheba Medical Center and Section of Clinical Biochemistry, Sackler School of Medicine, Tel Aviv University; Pediatric Neurology Unit, Wolfsohn Medical Center, Holon; and Children's Ambulatory Clinic, Assaf Harofeh Medical Center, Zrifin

Several conditions, considered as inborn errors of metabolism, involve severe deficiencies in carnitine in both plasma and muscle. In the absence of evidence suggesting primary carnitine deficiency due to a biosynthetic enzymatic defect in the liver, the various diseases with carnitine deficiency are related to genetic defects in organic acid metabolism leading to blocked mitochondrial b oxidation. We describe a 4.5-year-old boy and 2 female infants with glutaric aciduria type I, isovaleric acidemia, and long-chain acid dehydrogenase deficiency, in whom severe carnitine deficiency was apparent. In all 3, long-term carnitine treatment proved to be vital and eliminated most of the symptoms.

Q Fever Endocarditis and Bicuspid Aortic Valve

Ora Shovman, Jacob George, Yehuda Shoenfeld

Medial Dept. B and Autoimmune Disease Research Unit, Chaim Sheba Medical Center, Tel Hashomer and Sackler of Medicine, Tel Aviv University

Q fever is caused by the rickettsia Coxiella burnetti, an obligate intracellular bacterium acquired by inhalation of infected dust from subclinically infected animals. Q fever may be acute or chronic; the chronic form mostly presents as endocarditis. Immunocompromised states and underlying heart disease are the most important risk factors. Usually the symptoms of Q fever endocarditis are nonspecific and diagnosis is often established very late. New criteria for diagnosis include a single blood culture positive for Coxiella burnetti, positive Q fever serology and characteristic echocardiographic studies. We describe a 49-year-old man with bicuspid aortic valve admitted with fever, weight loss and a new heart murmur. The diagnosis of Q fever endocarditis was established by positive Q fever serology, and an echocardiogram showing vegetations and valvular dysfunction. This case suggests that Q fever endocarditis should be considered in patients with "sterile" endocarditis.

Effect of the Yom Kippur Fast on Parturition

A. Wiser, E. Maymon, M. Mazor, I. Shoham-Vardi, T. Silberstein, A. Wiznitzer, M. Katz

Depts. of Obstetrics and Gynecology and of Epidemiology, Soroka Medical Center, and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba

Food-withdrawal has been proposed as a possible mechanism for initiating the onset of labor in animals and humans. The hypothesis was based upon the reported increase in deliveries of infants during the Yom Kippur fast. We studied the effect of the fast on full term deliveries of Jewish women, with non-fasting Bedouin women as controls (1988-1995, 1,313 Jewish and 1,091 Bedouin deliveries). To determine the effect of Yom Kippur itself, delivery rates on Sukkot and Yom Kippur were compared in both groups. The mean delivery rate in the Jewish population was significantly higher during Yom Kippur and the day after, than during the 7 days before Yom Kippur (15.1±5.1 and 14.6±4.7 vs 10.7±3.5, p<0.04 and p<0.01, respectively). There was an increase in delivery rate during the 6 hours before the end of the fast. In the Bedouin women there were no changes in delivery rate during any of these periods. There were no significant differences in the rates of deliveries during the Sukkot festival between Jewish and Bedouin women. We conclude that fasting is associated with a significant increase in the rate of deliveries at term.