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.

Limited Axillary Thoracotomy for Recurrent Spontaneous Pneumothorax

I. Bar, M. Simha, A. Nissan, Y. Shargal, M. Kramer, G. Merin

Depts. of Cardiothoracic Surgery and of Surgery, and Pulmonary Institute, Hadassah--University Hospital, Ein Karem; and Dept. of Surgery, Hadassah--University Hospital, Mt. Scopus, Jerusalem

Recurrent spontaneous pneumothorax often requires surgical intervention. Recently, less invasive thoracic surgical techniques, such as video-assisted thoracoscopy (VAT) and limited axillary thoracotomy (LAT), have been developed and used for different thoracic procedures. We describe our results with limited axillary thoracotomy, as compared with those of video-assisted thoracoscopy as reported in the literature. From October 1994 to May 1996, 14 patients with recurrent spontaneous pneumothorax, aged 16-33 years, underwent limited axillary thoracotomy, resection of blebs and apical pleurectomy, using multifire GIA 80 staplers (Auto Suture Inc.). There were no complications or recurrences during 5-17 months of follow-up. Mean operative time was 52.2 minutes and mean hospital stay 2.3 days postoperatively. Full activity was regained within 12.1 days. In comparison with over 75 cases of VAT from the literature, LAT is safe and offers the potential benefits of decreased operative time, hospital stay and cost.

Macroenzymes: an Interesting Laboratory Finding, without Clinical Relevance

C. Perry, H. Peretz, E. Graf, O. Ben-Tal, A. Eldor

Hematology Dept. and Biochemistry Laboratory, Tel Aviv-Sourasky Medical Center, and Sackler Faculty of Medicine, Tel Aviv University

Macroenzymes are complexes of serum enzymes with proteins which have a higher molecular weight and longer plasma half-life than the normal enzyme. The presence of macroenzymes is suggested by finding increased serum enzyme activity, not associated with symptoms. Thus, macroenzymes can cause diagnostic errors and the performance of unnecessary tests or invasive procedures. We describe 2 patients with highly elevated serum levels of lactate dehydrogenase (LDH) and creatine kinase (CK) due to formation of complexes with immunoglobulin G. 1 patient had LDH of 4500 u/L but was otherwise normal and in the second CK was elevated with no evidence of ischemic heart disease. Awareness of the phenomenon of macroenzymes may save the patient long and sometimes invasive investigation.

Participation of Patients with Uret-Eral Calculi in Clinical Decision Making, and Level of Anxiety

Ilana Margalith, Amos Shapiro

Hadassah-Hebrew University School of Nursing, and Dept. of Urology, Hadassah Medical Center, Jerusalem

In a study examining the relationship between patient participation in clinical decision making and levels of anxiety, patients were offered a choice of treatment for ureteral calculus. 42 received information about 2 treatment options, ultrasound fragmentation of the stone through a ureteroscope and extracorporeal shock wave lithotripsy (ESWL), and were asked to choose the method that they preferred. 54 received treatment decided on by the physician without their participation in the decision making process. Anxiety was measured before meeting with the physician, immediately after the meeting and on hospitalization for treatment. The contribution of the patient's perception of participation in the decision- making process and level of education was also examined. There was a decrease in level of anxiety after meeting with the physician only among those who did not actually participate in the decision-making process (p<0.05). There was no change in the level of anxiety among those offered choice of treatment. However, a decrease in anxiety was evident among patients who perceived that they had received information about their illness and its treatment (p<0.01). This was not the case for patients who perceived themselves as participants in decision making unless they had a relatively high-level of education (p=0.05).

Gradenigo Syndrome and Cavernous Sinus Thrombosis, in Fusobacterial Acute Otitis Media

S. Hananya, Y. Horowitz

Pediatrics Dept., Central Hospital of the Emek, Afula

In this era of antimicrobial medication, intracranial complications following otitis media are rare. We present a 5-year-old boy who suffered from petrositis (Gradenigo syndrome) and cavernous sinus thrombosis as combined complications of acute otitis media caused by fusobacteria. The diagnosis was made using imaging methods suited to the various structures of the skull. Cure was achieved by prolonged conservative treatment with antibiotics, with gallium scan for evaluation of the bone inflammation.

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.

Gram-Negative Enteric Bacteremia in Children in the Negev

Michal Maimon-Greenwald, Eugene Leibovitz, Nimrod Maimon, Nechama Peled, Ron Dagan

Pediatric Infectious Disease Unit and Clinical Microbiology Laboratory, Soroka Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba

During 1989-1994, there were 322 episodes of Gram-negative enteric bacteremia in 308 children. The incidence increased from 31/100,000 in children younger than 15 years of age during 1989-1991, to 50/100,000 during 1992-1994. The most common pathogens were Klebsiella, E. Coli, Salmonella and Enterobacter. 39% of episodes were nosocomial and a significant increase was recorded for each species during the last 3 years of the study. Klebsiella represented the most common pathogen causing nosocomial bacteremia, while E. coli and Salmonella were the main pathogens causing community-acquired bacteremia. In this study in southern Israel, the incidence of Gram-negative enteric bacteremia was significantly higher in Bedouin children, with the exception of bacteremia due to Salmonella, which occurred mainly in Jewish children.

Epidemiological Characteristics of Outbreaks of Diarrhea and Food Poisoning in the Israel Defense Forces

I. Grotto, Y. Mandel, I. Ashkenazi, J. Shemer

Army Health Branch, IDF Medical Corps and Sackler Faculty of Medicine, Tel Aviv University

Acute infectious diseases of the gastrointestinal tract and food poisoning are problems of great importance in the Israel Defense Force (IDF). They involve individual and epidemic morbidity, with impairment of health of individual soldiers and in the activities of units. Outbreaks of gastrointestinal infectious diseases must be reported to the IDF army health branch, which conducts epidemiological investigation. This study is based on data from yearly epidemiological reports for 1978-1989, and from a computerized database for the years 1990-1995. The incidence of outbreaks is characterized by an unstable trend, It was highest at the end of the 80's (68.3 per 100,000 soldiers on active duty) and lowest for the last 2 years (1994-1995, 36.3 per 100,000). The incidence of soldiers involved in food-borne outbreaks has been more stable, constantly declining during the course of the years. There was marked seasonality with a peak in the summer months. Sporadic morbidity was constant in 1990-1995, with a yearly attack rate of 60% in soldiers on active duty. Shigella strains were the leading cause of outbreaks until 1993, while in 1994-1995 their proportion decreased, with an increase in the proportion of Salmonella strains. As to Staphylococcus aureus, its role in causing food poisoning has been characterized by marked changes. Shigella sonnei replaced Shigella flexneri as the leading strain. 73.3% of outbreaks were small, with fewer than 40 soldiers involved, while 5.4% of outbreaks affected more than 100 soldiers. Outbreaks in which a bacterial agent was identified or which occurred in new-recruit bases were larger than those in which a bacterial agent was not identified, or which occurred in active field unit bases. In conclusion, the rates of infectious disease of the gastrointestinal tract are still high, although there has been a marked decrease since 1994. The incidence of outbreaks has also decreased, as well as the role of Shigella as a leading causative agent.

Quality of Life in Younger Adults after First Stroke

Shenka Alfassa, Revital Ronen, Haim Ring, Aida Dynia, Ada Tamir, Reuben Eldar

Fleischman Unit for Study of Disability, Neurological Ward, Loewenstein Hospital, Ra'anana

To study the effect of stroke on the quality of life in younger adults, 199 patients 17-49 years of age who had sustained a first stroke between 1.11.92 and 31.10.93 were followed up. They were interviewed by telephone at 3, 6, 12 and 24 months after the event. 2 died during the first year of follow-up, and 8 had recurrent strokes. After 2 years, 8 additional patients had died and 4 had sustained recurrent events. Gradual improvement was reported within all age groups and in all areas. During the 3-6 months period, a mean of 4% improvement occurred in functional capability, 15% in social and recreational activity and 8% in return-to-work. The 6-12 month period showed an increase of 3% in improvement in mean functional capability, 10% in social and recreational activity and 2% in return-to-work. 1 year after the stroke 27% remained with moderate to severe disability, but over 86% were functionally independent in their daily living activities. There were no significant changes during the second year of follow-up in these statistics. 67% of those employed prior to their stroke returned to work and approximately 70% reported a return to prestroke social and recreational activity. These results demonstrate that the relatively high recovery rate and functional improvement during a year of follow-up were not accompanied by similar rates of improvement in emplyment and in social integration. They indicate the need for increased emphasis on long-term psychosocial rehabilitation services within the community.

Suprascapular Nerve Entrapment in a Basketball Player

Atzmon Tsur, Radi Shahin

Rehabilitation Unit and Dept. of Neurology, Western Galilee Hospital, Nahariya

A basketball player was shown to have a suprascapular nerve lesion without any history of shoulder girdle trauma. This acute neuropathy, never previously described in basketball players, is a result of repeated micro-trauma, due to nerve traction over the coracoid notch during violent movement ("dunking" most probably). Clinically, he was unable to abduct his arm and had some difficulty in external rotation. He developed atrophy in both the supra- and the infraspinatus muscles. Nerve conduction latency to the supraspinatus muscle was 8.0 ms, and to the infraspinatus, 8.5 ms. The compound muscle action potential registered in the supraspinatus was 1.224 mV, and in the infraspinatus, 1.237 mV. After 3 weeks of inactivity, recovery was spontaneous and practically complete.

Capgras' Syndrome

I. Z. Ben-Zion, K. Levine, A. Shiber

Psychiatry Dept., Soroka Medical Center and Ben-Gurion University of the Negev, Beer Sheba

We present 3 cases of Capgras' syndrome- a delusional disorder in which the patient believes that 1 (or more) of his acquaintances has been replaced by an imposter who appears as a double. 2 were schizophrenics and 1 had depression with psychotic features. This syndrome is rare in our practice, but we do not know if this is due to lack of awareness of the condition, or to the possibility that it is a culture-related syndrome. We suggest that although the syndrome has lost some of it's significance, it is still worth making the diagnosis because of the medical and psychological implications this condition carries.

Nissen Fundoplication by Laparoscopy

Dan Seror, Oded Zamir, Raphael Udassin, Amos Vromen, Tanir M. Allweis, Herbert R. Freund

Depts. of Surgery and Pediatric Surgery, Hadassah-University Hospital, Mount Scopus, Jerusalem

Short term results following laparoscopic Nissen fundoplication were evaluated in 31 patients with symptomatic gastroesophageal reflux. 6 were females and 26 males, and they ranged in age from 5 months to 64 years (mean: 4.9 years in 19 younger than 18 years, and 39.3 years in 12 adults). Most of the adults who complained of pain and heartburn underwent pH monitoring, endoscopy, and manometry as needed. Milk scan was the most useful diagnostic tool for the evaluation of the children, who suffered mainly from gastroesophageal-related pulmonary disease. Indications for laparoscopic operation were identical with those for conventional open Nissen fundoplication. 1 case of dysautonomia died postoperatively; the rate of complications, mostly minor, was 22.5%. 3 patients required conversion to open Nissen fundoplication due to cardiorespiratory instability secondary to pneumothorax in 2, and to esophageal perforation in the third. 5 adults developed temporary dysphagia. 3 children had only partial improvement in their pulmonary disease following the operation, while the other 15 had complete relief. The total time for the laparoscopic operation averaged 245 minutes in adults, and 228 in children. Discharge was usually on the fourth postoperative day in adults (mean: 6.0 days). Regurgitation and heartburn were cured in 10 out of 11 adults (91%). All parents of children were satisfied. Symptomatic outcomes following laparoscopic Nissen fundoplication compare favorably with those of open surgery with respect to mortality, complications, and outcome.

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.

Budd-Chiari Syndrome

S. Goland, S.D.H. Malnick, L. Shvidel, E. Mor, Z.M. Sthoeger, E. Evron

Medical Depts. C and B, and Hematology Institute, Kaplan Hospital, Rehovot; and Surgical Dept. B, Rabin Medical Center, Beilinson Campus, Petah Tikva

Budd Chiari syndrome is a rare disorder resulting from occlusion of hepatic venous drainage by hepatic vein thrombosis or by a membranous web in the inferior vena cava. In western countries the commonest causes are myeloproliferative disorders and hypercoagulable states. Presentation may be acute with rapid accumulation of ascites and hepatic failure, or subacute with symptoms developing over a few months. A chronic progressive form has also been described. On presentation there is usually abdominal pain, ascites, and hepatosplenomegaly; hepatic encephalopathy is found in about a third. Noninvasive, ultrasound-Doppler is recommended in diagnosis, and has a high correlation with hepatic venography. Liver biopsy is required for therapeutic decisions. Those with advanced hepatic failure or severe fibrosis on liver biopsy are referred for hepatic transplantation. When biopsy shows only hepatic congestion and inflammatory infiltrates, portosystemic shunting is recommended. We present a 61-year-old woman with ascites and hepatosplenomegaly that had developed over the courses of a few months. Budd-Chiari syndrome with chronic myelofibrosis and congenital protein C deficiency were diagnosed. Portosystemic shunt was performed but death from sepsis followed shortly.

Buschke-Ollendorf Syndrome

A. Adunsky, E. Atar, H. Trau

Depts. of Geriatrics, Radiology, and Dermatology, Chaim Sheba Medical Center, Tel Hashomer

Buschke-Ollendorf syndrome is a rare condition characterized by uneven sclerotic, osseous formations seen on X-ray (osteopoikilosis) and fibrous skin papules (dermatofibrosis lenticularis disseminata). We report an 82-year-old man with this syndrome. Awareness of the condition is important to avoid misdiagnosis and hazardous management designed for other disorders, such as prostatic metastases.