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.

Prosthetic Heart Valve Thrombosis: A 3-Year Experience

Yaron Shapira, Rafael Hirsch, Ruth Jortner, Moshe Nili, Bernardo Vidne, Alex Sagie

Sheingarten Echocardiography Unit and Cardiology Dept., Rabin Medical Center (Beilinson Campus), Petah Tikva and Sackler Faculty of Medicine, Tel Aviv University

A series of 12 patients with 16 episodes of prosthetic heart-valve thrombosis over 3 years is presented. Most episodes affected mitral or tricuspid bileaflet prostheses. All patients were inadequately anticoagulated at the time of thrombosis. The clinical presentation was acute and severe in 6 patients, and subacute or chronic in the rest. Physical examination was suggestive of stuck valves in most cases. Transthoracic echocardiography revealed increased transvalvular gradients in most. However, clearer evidence of valve thrombosis was obtained from transesophageal echocardiography or fluoroscopy. 9 patients eventually had their valves re-replaced successfully, and the preoperative diagnosis was confirmed in all. 5 patients were operated as soon as the diagnosis was established, and an additional 4 were operated after failure of anticoagulation. In 4 patients the valve leaflets became completely mobile after a course of thrombolysis. Prosthetic valve thrombosis is a severe and potentially fatal complication in patients with mechanical heart valves. Alertness of physicians at all levels- the general practitioner, the internist and the cardiologist- to the possibility of valve thrombosis and to its clinical presentation may lead to prompt and earlier diagnosis and to comprehensive therapy.

Blunt Perineal Injuries

Y. Kluger, D. Soffer, B. Sagie, O. Abllay, D. Aladgem, M. Rabau

Depts. of Surgery B and C and Division of Trauma and Proctology, Tel Aviv Medical Center, Tel Aviv

Blunt perineal and anal injuries are rare. We describe 2 patients who suffered injury to the perineum and anal canal due to blunt force. New surgical techniques for the reconstruction of the sphincteric mechanism are promising and should be used by the initial treating surgeon as minimal procedures in the perineal region. Anal tagging, minimal debridement, approximation of the edges of perineal laceration, repeated irrigation and loop-colostomy for fecal diversion should be the only initial surgical procedures.