תוצאת חיפוש

Gyrate Atrophy of Choroid and Retina, and Hyperornithinemia 

B-A. Sela, J. Zlotnik, T. Masos, G. Yablonski, F. Abraham

Institute of Chemical Pathology and Goldschlager Eye Institute, Sheba Medical Center, Tel Hashomer; and Sackler Faculty of Medicine, Tel Aviv University

Gyrate atrophy of the choroid and retina is a rare degenerative disease, characterized biochemically by a marked increase in blood ornithine levels, due to deficiency of ornithine S-amino transferase. 4 men aged 35, 36, 48 and 62 years are described with different stages of myopia, night blindness and loss of peripheral vision, which progressed to tunnel vision and partial blindness. Onset of the disease was at ages 3, 10 and 15 years, respectively, while in the 4th patient there was delayed expression starting at about age 50. Most had posterior subcapsular cataracts, and the ocular fundus exhibited demarcated circular areas of chorioretinal degeneration. So far the only patients described in Israel have been of Iraqui origin. Our fourth patient originated from Istanbul, and he may represent a hitherto undescribed variant with a much delayed expression of the disease.

Solid and Papillary Pancreatic Neoplasm 

Michal Soudack, Alon Ben-Nun, Leonid Malkin, Moshe Hashmonai

Depts. of Diagnostic Radiology, Surgery A and B, and Pathology, Rambam Medical Center, Haifa

Solid and papillary neoplasm of the pancreas is an interesting and rare malignant tumor. It occurs most commonly in young women. It was first described in 1959 and since then has been referred to by different names, including solid and cystic tumor, solid and cystic epithelial neoplasms, and others. Its malignant potential is low and metastasis is very rare.

Treatment includes partial pancreatectomy with full resection of the tumor. The prognosis is generally very good. We present 3 women (aged 17, 19, 39) diagnosed and treated for solid and papillary neoplasm of the pancreas. The unique clinical, histological, and epidemiological characteristics of this tumor are detailed.

Treatment of Velopharyngeal Insufficiency

Abraham Amir, Ram Silfen, Daniel J. Hauben

Dept. of Plastic and Reconstructive Surgery, Rabin Medical Center, Beilinson Campus, Petah Tikvah

Weak and hypernasal speech, along with nasal escape of air, are the main characteristics of velo-pharyngeal incompetence (VPI). We describe 10 years of experience (1989-1998) with surgical treatment of VPI.

51 patients underwent pharyngeal flap elevation. 37 had cleft palate (8 of them submucous), 7 had neuromuscular disorders and another 7 were idiopathic. All underwent evaluation by a speech therapist before and after operation. 25 had further nasal endoscopy and/or videofluroscopy.

There was significant speech improvement in volume and clarity in 35 (73%), mild improvement in 13 (27%) and none in 3. The complication rate was 15% and included sleep apnea, wound infection and dehiscence, stridor and bleeding. Complications were correlated with advanced age.

VPI should be diagnosed as early as possible to achieve good results and to prevent social problems.

Alpha-Amino Adipic Aciduria: a Rare Psycho-Motor Syndrome

Ben-Ami Sela, Tamar Massos, Dov Fogel, Joseph Zlotnik

Pathological Chemistry and Child Development Institutes, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel Aviv University

A 3.5-year-old boy with developmental motor retardation, hypotonicity, and severe speech disturbance had alpha-amino adipic acid in his blood and very high levels in his urine. In only 20 cases has this catabolite of lysine and hydroxylysine been found in high concentrations in urine, due to enzymatic block.

The clinical features associated with alpha-amino adipic aciduria may include mental retardation, developmental and motor delay, learning difficulties, convulsions, speech problems and ataxia. 3 siblings had milder symptoms of psychomotor delay and intermediate degrees of alpha amino-adipic aciduria, suggesting that the described developmental deficits could be related to this metabolite or its derivatives.

Sensitivity and Resistance of Helicobacter Pylori to Antibiotic Treatment

Benny Avidan, Batia Weiss, Yeuda Chowers, Anita Younash, Simon Bar-Meir, Nathan Keler

Dept. of Gastroenterology and Microbiology, Sheba Medical Center, Tel Hashomer

Resistance to antibiotics is considered the main reason for failure to eradicate Helicobacter pylori (HP). Resistance rates are different in developed and developing countries and are not known for Israel. We studied HP resistance rates in 40 patients who underwent esophagoduodenoscopy for various indications and were found to have gastric HP colonies.

Sensitivity was determined by E-test, using clarythromycin, amoxycillin, clindamycin, erythromycin and metronidazole. The resistance rate for metronidazole was up to 67% but that for clindamycin was only 10%. HP was very sensitive to both macrolide antibiotics, erythromycin and clarythromycin.

Symptom Severity among Chronic Schizophrenics in Hospital and in the Community

Haim Y. Knobler, Dorit Ben Ami, Orna Intrator, Shlomit Katz, Daniela Moshe, Yaacov Lerner

Jerusalem Mental Health Center, Falk Institute of Psychiatric and Behavioral Studies, and Dept. of Statistics, Hebrew Universitry of Jeruselam

We compared severity of symptoms of chronic schizophrenics in a psychiatric hospital with those treated in its outpatient clinics.

The Positive and Negative Syndrome Scale and the Mini-Mental State examination were used to assess the schizophrenic symptoms and cognitperformance, respectively, of 25 chronic schizophrenic inpatients matched for gender, age and education with 25 chronic scoutpatients. The Global Assessment Scale and the Clinical Global Impression Scale were used to test global functioning. Assessment included psychiatric and medical history and treatment and demographic characteristics.

In-patients had significantly more positive, negative and general psychiatric symptoms. Their cognitive and general functioning were impaired. Most in-patients also had medical problems. Age of onset of schizophrenia among the in-patients was younger.

Results show a marked difference in severity of symptoms and level of functioning between chronic schizophrenic in-patients and out-patients. These differences should be considered in the planning of discharge of chronic in-patients from psychiatric hospitals into the community.

Familial Hemiplegic Migraine of Childhood

A. Livne, E. Lahat

Pediatric Division and Pediatric Neurology Unit, Assaf Harofeh Medical Center, and Sackler Faculty of Medicine, Tel Aviv University

Familial hemiplegic migraine is a rare autosomal, dominant, migraine subtype. It is characterized by acute episodes of hemiplegia and hemisensory deficits, and other neurological abnormalities occurring either before or together with severe headache, nausea and vomiting; episodes last several hours and then spontaneously subside. Intervals between episodes are relatively prolonged. Unless there is a relevant family history suggesting this syndrome, the diagnosis is usually delayed. Recently the gene for the syndrome was identified on chromosome 19. We report 3 boys and 1 girl, 11-15 years old with hemiplegic migraine.

Prognostic Implications in Pediatric Head Injuries

Gideon Paret, Ron Ben Abraham, Susana Berman, Amir Vardi, Rami Harel, Yossi Manisterski, Zohar Barzilay

Depts. of Pediatric Intensive Care and of Anesthesiology and Intensive Care, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel Aviv University

An unselected series of 200 consecutive cases of major head trauma in children aged 6 months to 16 years, seen during 4 years, was studied. Injuries were due to road accidents (40%), falls (30.5%) and other causes (29.5%), and were assessed clinically and by cranial CT.

On admission the Glasgow Coma Score ranged from 4.72-11.65 and in addition to pupillary responses and brain stem reflexes, was a significant predictor of outcome. Brain edema, midline shift, intracranial hemorrhage and also hyperglycemia, hypokalemia and coagulopathy, were associated with poor outcome. While 17% died, 53% were discharged in good functional condition.

Early identification of clinical features related to prognosis can help the caring team provide maximal support for patient and family.

Effect of Specific Inspiratory Muscle Training on Dyspnea and Exercise Tolerance in Congestive Heart Failure

Paltiel Weiner, Joseph Waizman, Rasmi Magadle, Noa Berar-Yanay, Benny Pelled

Depts. of Medicine A and Cardiology, Hillel Yaffe Medical Center, Hadera

It has been shown that the inspiratory muscles of patients with congestive heart failure (CHF) are weaker than normal. This weakness may contribute to dyspnea and limit exercise capacity. But respiratory muscles can be trained for increase in both strength and endurance. This study was designed to evaluate the effect of specific inspiratory muscle training (SIMT) on muscular performance, lung function, dyspnea and exercise capacity in moderate heart failure.

10 patients with CHF (NYHA functional class II-III) received 1/2 hour of SIMT daily, 6 times/week, for 3 months. They started breathing at a resistance 15% of their Pimax for 1 week and the resistance was then increased incrementally to 60%. Spirometry, inspiratory muscle strength and endurance, and the 12-minute walk test were performed before and after the training period. All showed an increase in inspiratory muscle strength and endurance. This was associated with a small but significant increase in FVC, a significant increase in the distance walked (458±29 to 562±32 m, p<0.01), and improvement in the dyspnea index score.

SIMT resulted in increased inspiratory muscle strength and endurance. This increase was associated with decreased dyspnea and an increase in submaximal exercise capacity. SIMT may prove to be useful complementary therapy in CHF.

Intrahospital Transport of Critically Ill Children

Gideon Paret, Ron Ben Abraham, Oshrat Yativ, Amir Vardi, Zohar Barzilay

Dept. of Pediatric Intensive Care and of Anesthesiology, Sheba Medical Center, Tel Hashomer and University of Tel Aviv

Prospective evaluation of intrahospittransportation of 33 critically ill children to and from the pediatric intensive care unit was conducted over the course of a month. Factors contributing to risk of transport were assessed.

There were 33 children (25 boys and 8 girls), 3 days to 15 years of age. Reasons for admission included: disease and trauma in 19, and status post operation in 11. The pretransport PRISM score was 4.84. 22 children (66.6%) were being mechanically ventilated and 10 (30.3%) were being treated with amines. Transport time ranged from 8-150 minutes. 15 of the transports (45.4%) were urgent and a special intensive care team escorted 22 (66.6%). Equipment mishaps and physiolog-ical deterioration occured in 12 (36.3%) and 11 (30.3%) of the cases, respectively. The use of amines, mechanical ventilation, longer transport time and high PRISM score were all associated with physiological deterioration on transport.

D-Lactic Acidosis in Short Bowel Syndrome

Ben-Ami Sela, Joseph Zlotnik, Tamar Masos, Joseph Danieli, Sarah Mazia-Beni, Anita Jonas

Institute of Chemical Pathology and Pediatric Intensive Care and Gastroenterology Units, Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University

A boy of 20 months and a girl of 27 months who had previously undergone massive bowel resection due to congenital intestinal obstruction are described. During grad-ual reduction of total parenteral nutrition and initiation of oral feeding, both developed severe, acute metabolic acidosis, accompanied by encephalopathy and ataxia. After the laboratory identification of massive amounts of the d-Disomer of lactic acid in urine and blood, both were successfully treated with IV bicarbonate, and metronidazole to suppress the overgrowth of colonic lactobacilli responsible for the metabolic crisis.

Danaparoid-Sodium for Dialysis in Heparin-Associated Thrombocytopenia

Ronen Ben Ami, Ruth Rachmimov, Shlomo Berliner

Medicine Dept. D and Anticoagulation Therapy Unit, Tel Aviv-Souraski Medical Center, and Nephrology Institute, Sheba Medical Center, Tel Hashomer

Danaparoid sodium is an anticomposed of 3 glycosaminoglycans: heparan sulfate, dermatan sulfate and chondroitin sulfate. Similar to heparin, operates by activating antithrombin 3, but does not contain heparin or heparin fragments, and is therefore antigenically distinct.

Danaparoid has been advocated as a safe and effective anticoagulant for heparin-associated thrombocytopenia. However, there is little experience in its use as a substitute for heparin in hemodialysis.

We report 2 men, aged 82 and 73 years, respectively, who developed thrombocytopenia while undergoing hemodialysis with heparin, and who subsequently underwent successful dialysis with danaparoid. There was a rise in platelet levels in both while receiving danaparoid, and dialysis was completed without hemorrhagic or thrombotic complications. Danaparoid is a safe and effective substitute for heparin, and may be used as an anticoagulant in hemodialysis.

Alcoholic Delirium: Warning Signs and Diagnosis

Eliezer Witztum, Izhak Z. Ben-Zion, Vladimir Lerner

Community Mental Health Center; and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba

Lately an increasing number of physicians are asked to diagnose and treat physical and mental disorders caused by alcohol abuse, a phenomena which had been quite rare in Israel until recently.

Early diagnosis and efficient treatment are essential for the management of alcohol-dependent patients. Primary care physicians and hospital personnel should be more alert to the growing numbers of alcohol abusers and to their appropriate diagnosis and treatment. This article describes and summarizes the symptoms of alcohol withdrawal in general, and alcoholic delirium in particular. Problems in diagnosis and treatment are illustrated by typical cases, pointing out early clinical warning signs and suggesting some treatment guidelines.

Muir-Torre Syndrome: Importance of Clinical Diagnosis and Genetic Investigation

Hana Strul, Paul Rozen, Tova Naiman, Ruth Shomrat

Gastroenterology Dept. and Genetics Institute, Tel Aviv Medical Center and Tel Aviv University

Muir-Torre syndrome is a relatively rare cutaneous manifestation of hereditary nonpolypous colorectal cancer (HNPCC). This autosomal dominant syndrome is characterized by a combination of sebaceous gland and malignant visceral tumors. The common sites of internal malignancies are the gastrointestinal tract and urinary system. It appears in early adult life and its clinical course is relatively slow.

In some families genetic diagnosis can identify asymptomatic carriers of the mutation. All first-degree relatives, especially mutation carriers, should be referred from the age of 20 years for routine follow-up and early treatment, as it has been proven to decrease morbidity and mortality.

We present a 51-year-old man with Muir-Torre syndrome diagnosed by the presence of multiple adenomas of sebaceous glands, colonic adenoma and adenocarcinoma of the duodenum. The family history was typical for HNPCC. A mutation in the hMSH2 gene on chromosome 2p was found in the patient and in several asymptomatic family members. The aim of this report is to increase awareness of this syndrome and emphasize the importance of referring patients and their families for clinical and genetic counseling and diagnosis.

Ramsay Hunt Syndrome

Doron Aframian, R. Ben-Oliel, Yair Sharav

Depts. of Oral Diagnosis, Medicine and Radiology, Hebrew University- Hadassah School of Dental Medicine, Jerusalem

Ramsay Hunt syndrome is caused by infection of the geniculate ganglion of the seventh cranial nerve by varicella- zoster virus. A case in an 82-year-old woman is described. She presented with oral lesions, right facial palsy and an eruption and pain in her right ear. Oral examination revealed small circumscribed erosions on the right anterior two-thirds of the tongue, with loss of taste. There were also lesions on her right palate. Early diagnosis and treatment are important as immediate treatment is more likely to prevent irreversible complications affecting the facial and other cranial nerves involved.