תוצאת חיפוש

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.

Congenital Syphilis: Need for Adequate Antenatal Care

Mark Friedberg

Pediatrics B Dept., Soroka Medical Center, Beer Sheba

Congenital syphilis is well-known and treatable with penicillin. Diagnosis in the neonate and young child may be difficult and consequently morbidity and mortality can be high. Prevention in children is of utmost importance and can be achieved by proper antenatal care and adequate follow-up of pregnant women. This includes identification of pregnant women at risk for contracting syphilis. The case presented demonstrates this need.

Breast Conservation: Safe for Early Breast Cancer

Gil Bar-Sella, Georgetta Fried, Zipora Brotman, Anna Ravkin, Riva Borovik, Abraham Kuten

Dept. of Oncology, Rambam Medical Center; Dept. of Oncology, Lin Medical Center; and Rappaport Faculty of Medicine, Technion, Haifa

Between 1981-1993 581 women with primary breast cancer were treated by breast conservation. Their mean age was 56‏12 years and 63% were postmenopausal and 37% pre- or perimenopausal. The median follow-up time was 56 months. 45% had pathological Stage I disease, 49% Stage II, 2.5% Stage III and 3.5% clinical Stage I-II disease. 54% of lesions were excised with good margins, 10% with close margins (<0.5 cm), 9% with microscopic residual, 3% with macroscopic residual, and in 24% margins were not reported. Adjuvant therapy, consisting of combination chemotherapy and/or hormones, was given to 69%.

Radiotherapy, usually 50 Gy tangential photon irradiation to the whole breast, was given to 564 (97%); an electron or photon "boost" to the tumor with a median dose of 17.5 Gy was given to 378 (65%). Most of those with positive nodes received 50 Gy to the lymphatic drainage system.

1 year after radiotherapy cosmetic results were rated as "good" or "excellent" in 80%, "moderate" in 17% and "poor" in 3%. The 5-year actuarial survival was 97% in Stage I and 88% in Stage II. 37 patients (6.5%) developed breast recurrence; 11 of these (2%) had simultaneous distant metastases. 5 (<1%) developed axillary or supraclavicular lymph node metastases, and 81 (14%) developed distant metastases. Most local recurrences were in those younger than 40, and in those with primary tumors >1.75 cm.

The satisfactory level of local control achieved is attributed to the high doses of radiation (up to 75 Gy) administered to those with high risk lesions.

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.

When are Menopausal Symptoms Psychiatric?

Helen Shoenfeld

Talbia Mental Health Center, Jerusalem

Nervousness, sleep disorders, mood instability and sexual dysfunction are frequent symptoms during menopause. It is commonly believed that they are due to the characteristic menopausal hormonal changes. However, they also commonly occur in psychiatric disorders unrelated to the menopause. The literature deals with the characteristic psychological aspects and studies have examined the ways in which menopausal phenomena are related to the hormonal background and its effect on the brain.

The clinical menopausal picture may be complicated by secondary psychiatric disease. Also, menopausal symptoms and symptoms of previous psychiatric disease may coexist. In addition, menopause may precipitate psychiatric disorders in women predisposed to them.

Accumulated personal myths and expectations related to the menopause are likely to affect the way in which a woman copes with it. Important factors in this connection include education, culture and certain life events. In all such cases precise evaluation of the etiology, with its intermingled gynecological and psychiatric factors is required. Such women should be treated by both a gynecologist and a psychiatrist.

We present 5 cases, 4 of which were sent to the menopause clinic and were then referred for psychiatric evaluation and treatment. The other case presented at a psychiatric clinic due to a first acute psychostate. Laboratory tests showed typical changes of menopause.
 

Neuropsychiatric Side Effects of Malarial Prophylaxis with Mefloquine

T. Minei-Rachmilewitz

Dept. of Psychiatry, Hadassah Hospital Ein Karem, Jerusalem

There has been an increased incidence of malaria among Europeans returning from Africa and Asia. The relatively new antimalarial mefloquine (Lariam) has become extremely popular due to its efficacy in treatinthe wide-spread chloroquine-resistant Plasmodium falciparum.

Mefloquine is used both for prophylaxis and treatment of malaria and is relatively well tolerated. However, since introduced in 1985, there have been over 100 reports of severe neurologic and psychiatric adverse effects associated with its use, including acute psychosis, affective disorders, acute confusional states and seizures.

We describe a 39-year-old woman who developed acute psychosis after being given mefloquine prophylaxis. Adverse effects occur more often after therapeutic rather than prophylactic use, and those with a history of seizures or psychiatric illness are at increased risk of developing these reactions. Physicians should be aware of these possible side effects and prescribe mefloquine only when indicated.

Superficial Skin Necrosis in Short Bowel Syndrome

Arie Eisenman, Rafael Enat

Dept. of Medicine B, Rambam Medical Center and Rappaport Faculty of Medicine, The Technion, Haifa

Short bowel syndrome causes a complex of symptoms due to compromise of small intestinal nutrient absorption. A 60-year-old woman underwent major resection of the small intestine due to a road accident 3 years ago. The sole manifestation of short-bowel-syndrome was superficial skin necrosis due to vitamin K deficiency. She was asymptomatic for a long time, until treatment with antibiotics further intensified initially subclinical malabsorption.

It is not clear why there had been no other symptoms and why the main impact was on the fibrinolytic system rather than the coagulation system, as is usually the case. It is recommended that patients after major resection of the small intestine be closely monitored for coagulation function if an oral antibiotic is prescribed.

Propafenone Dose for Emergency Room Conversion of Paroxysmal Atrial Fibrillation

D. Antonelli, A. Darawsha, S. Rimbrot, N.A. Freedberg, T. Rosenfeld

Dept. of Cardiology and Emergency Room, Central Emek Hospital, Afula

Paroxysmal atrial fibrillation (AF), a frequent cause of repeated hospitalization, is effectively treated with propafenone. The time to conversion to sinus rhythm is a consideration when managing AF in the emergency room. We investigated the conversion rates of paroxysmal AF by 3 different oral propafenone (P) regimens, in terms of time to conversion.

188 patients with onset of AF within 48 hours were treated with propafenone (P): 48 received 600 mg as a first oral dose followed after 8 hrs by 150 mg (Group A); 82 received 300 mg as a first dose, followed by the same dose 3 and again 8 hrs later (B); 58 received 150 mg every 3 hrs, up to a total dose of 600 mg (C). P was stopped when sinus rhythm was achieved.

Rates of conversion to sinus rhythm after 3 hrs in the 3 groups were: 46%, 41% and 26% respectively; after 8 hrs: 77%, 78% and 70%; and after 12 hrs: 81%, 84% and 76%. Treatment was discontinued in 8. There was excessive QRS widening (>25% of the basal value) in 1 in group A, 1 in group B and 2 in group C; wide-QRS tachycardia occurred in 4 in group B. In Group A there was a higher rate of early successful conversion, with a lower incidence of side-effects than with the other regimens.

Acute, Painful, Swollen Testis

Dan Leibovici, Simon Strauss, Ahuva Sharon

Dept. of Urology, Ultrasound Unit, Institute of Diagnostic Imaging and Medical Dept., Assaf Harofeh Medical Center and Sackler Faculty of Medicine, Tel Aviv University

An acutely painful and swollen testis mandates urgent diagnostic and therapeutic measures since this symptom complex may indicate torsion of the testis. Prompt scrotal exploration is necessary if the testis is to be saved from ischemic necrosis.

Polyarteritis nodosa (PAN) is a vasculitis involving mainly medium and small sized arteries and may damage any organ. In PAN, the presentation of an acutely painful and swollen testis raises a perplexing diagnostic problem since the symptoms may be related to vasculitis involving the testis on the one hand, or represent primary testicular pathology unrelated to the underlying PAN. A 31-year-old man with PAN who presented with acute pain and swelling in a solitary testis is reported.

1000 Cardiac Catheterizations in Congenital Heart Disease

Benjamin Zeevi, Galit Bar-Mor, Michael Berant

Cardiac Catheterization Unit, Schneider Children's Medical Center, and Sackler School of Medicine, Tel Aviv University

Over the past 15 years, percutaneous therapeutic cardiac catheterization has become increasingly important in the treatment of congenital heart disease. We describe our experience in 1000 such catheterizations between 1993-1997. 55% were in 1-12-year-olds; only 20% were in patients younger than 1 year old and 11.3% were in adults with congenital heart defects. In about 50% it was at least a second cardiac catheterization. Overall, there were 425 therapeutic cardiac catheterizations, increasing from 33% in the first 200 procedures, to 63% in the last 200.

We performed 30 different types of therapeutic catheterizations: 23.3% were valvular dilations, 21.4% vessel angioplasties, 36.9% closure procedures, 9.2% electrophysiological procedures, and 9.2% miscellaneous. In 31.3% of therapeutic catheterizations we used 12 new procedures. Minor complications occurred in 8.5% and major in 0.6%; most complications were successfully treated or were self-limited and there was no residual damage.

In this report the current role of each type of major catheterization is discussed on the basis of our experience. Further development of technology for lesions not amenable to currently available transcatheter methods, and longer follow-up for current techniques will consolidate the role of therapeutic cardiac catheterization in congenital heart disease.

Tension-Free "Plug and Patch" Inguinal Hernia Repair

Y. Mintz, D. Goitein, M. Muggia-Sullam

Dept. of General Surgery, Hadassah-Hebrew University Hospital, Jerusalem

Inguinal hernias are common and have highly variable clinical presentations, ranging from the asymptomatic to surgical emergencies when incarcerated, sometimes necessitating bowel resection. Several techniques have been described for repair of inguinal hernias based on the unique anatomic structure of the inguinal region. In 1989 Lichtenstein and co-workers described a "tension free" repair based on using a synthetic mesh patch to reinforce the inguinal canal floor and as a plug to prevent recurrence through the internal inguinal ring. This technique has been used in many centers worldwide with good rates of success.

Balloon Angioplasty of Native Coarctation of the Aorta

Benjamin Zeevi, Galit Bar-Mor, Michael Berant

Cardiac Catheterization Unit, Schneider Children's Medical Center, Petah Tikva, and Sackler School of Medicine, Tel Aviv University

The use of balloon dilatation to treat native coarctation of the aorta is gaining acceptance among interventional pediatric cardiologists, but is still controversial. We describe our experience with this procedure in 21 children, mean age 5.6 years and mean weight 21.1 kg. Most had an additional congenital heart defect, most commonly a bicuspid aortic valve. 17 were asymptomatic, 3 had tachypnea and 1 infant had severe congestive heart failure and was ventilated. The mean systolic blood pressure was 129.7 mm Hg.

Balloon dilatation was successful in 90% (19), decreasing the mean maximal systolic gradient from 35.3 to 9 mm Hg (p<0.001), and increasing the narrowest area from 3.9 to 8.2 mm (p<0.001), with a mean balloon-to-coarctation width-ratio of 2.8. There were no complications. Of 15 who underwent repeat cardiac catheterization at a mean interval of 10.6 months, 2 had a maximal systolic gradient of more than 20 mm Hg. 1 of these underwent successful repeat angioplasty and the other, who also had a small aneurysm, underwent surgical repair successfully. 2 others had small aneurysms and they are being followed clinically.

All patients were seen again after a mean interval of 31 months. The mean systolic blood pressure was 104 mm Hg, significantly lower than before intervention (p<0.002). 1 had an increased pressure gradient between right arm and leg of 35 mm Hg at later follow-up, and repeat cardiac catheterization demonstrated a good result 13 months after the initial procedure. She is awaiting a third catheterization. Overall, 90% had good mid-term results.

Based on our experience and recent reports, balloon angioplasty is safe and effective in most children older than 7 months and should be considered a viable alternative to operation for discrete aortic coarctation. Further long-term evaluation is needed.

Cocaine "Mules"

Ornit Yanai, Jehuda Hiss

L. Greenberg Institute of Forensic Medicine, Tel Aviv (Affiliated with the Sackler Faculty of Medicine, Tel Aviv University)

We present 2 cases of "body-packer" syndrome (BPS) in which the "mules" carrying the packages of narcotics arrived at Ben-Gurion Airport presented symptoms of acute cocaine intoxication due to the bursting of packages of narcotics they were transporting within their gastro-intestinal systems.

Acute cocaine overdose due to sudden massive release of the drug into the digestive system in BPS, may cause psychosis, convulsions and eventually death. Blood levels of cocaine between 0.25 and 5 mcg/ml are toxic and occasionally lethal. When a package bursts within the digestive tract of a smuggler or blocks the intestines, an immediate laparotomy is necessary to evacuate the "ovules" and the remains of the drug from stomach and intestines. Patients merely suspected of being body packers can be diagnosed by physical examination and by means of various imaging methods. They can be conservatively treated with fluids and mild laxatives and kept under close supervision until the remaining packages are naturally discharged.

Sudden onset of psychotic behavior in travelers from South America or other drug-producing countries should raise suspicion of body-packer syndrome. The relevant authorities should therefore be aware of the symptoms and consider their potentially dangerous outcome.

Percutaneous Closure of Patent Arterial Ducts with Occluding Spring Coils

Benjamin Zeevi, Galit Bar-Mor, Michael Berant

Cardiac Catheterization Unit, Schneider Children's Medical Center, Petah Tikva and Sackler School of Medicine, Tel Aviv University

In recent years percutaneous closure of small and medium- sized patent arterial ducts has been achieved using occluding spring coils. We describe our experience in 93 patients with this tec, using a snare to facilitate the procedure in most. All patients had a clinically apparenpatent arterial duct and had undergone attempts at transcatheter closure at a mean age of 6.8 years. In 1, the duct was a residual lesion following surgical ligation, and in 5 it was a residual following attempted closure with the Rashkind double-umbrella. The mean narrowest diameter of the ducts was 2.1 mm.

In our 93 patients implantation was successful in 92 (99%), using 1 coil (82 patients), or 2 (10 patients), and in 1 by a combination of a double-umbrella device and an occluding spring coil.

The mean fluoroscopic screening time for the whole group was 22.8 minutes, which decreased to 16.8 minutes in the last 50 patients. The coil embolized in 7 patients, but was retrieved in 6 and the ducts were subsequently occluded with another coil. In 1 patient the coil was left in a distal small branch of the left pulmonary artery and the duct was successfully occluded with a double-umbrella.

Color-Doppler echocardiogram performed the morning after placement of the coils showed residual leaks in 18%. At mean follow-up of 24.6 months repeat imaging showed residual leaks in only 3 of these patients (3%).

We conclude that occlusion of small to medium-sized ducts using coils appears to be effective and is the treatment of choice. The use of a snare to hold and manipulate the coil as it is delivered improves control of the coil, the accuracy of its placement, as well as giving complete occlusion of the ducts.

Legionellosis in Israel

Ida Boldur, Silviu Hoffmann, Regina Kazak, Batzion Benjamin

Institute of Microbiology, Assaf HaRofeh Medical Center, Zrifin and Dept. of Life Sciences, Bar-Ilan University, Ramat Gan

Infection with Legionella remains an important cause of disease and death. We analyzed our laboratory data from 1993 through 1997, augmented by our 20 years of experience. The incidence of Legionella as a cause of pneumonia varied in our study from 5%-9%, with a slight increase during the winter. Isolation of these microorganisms from different water sources was higher during the summer and ranged from 7%-70%.

Special laboratory tests are necessary to diagnose the disease and monitor these bacteria in water samples. The serologic method - indirect immunofluorescent assay -- for 41 serogroups of Legionella was the main diagnostic method used. Legionella sg. 1 was the most frequent cause of the disease, with an incidence of 52% in 1993, decreasing to 15% in 1997. An increase in the incidence of seropositivity to "other Legionellae" is characteristic for our country.

No correlation was found between the incidence of isolation of a specific strain and exposure. However, it is well known that the disease is overtreated but underdiagnosed, which requires reversal. Larger studies of Legionella colonization in water supplies and in air are needed in order to establish the risk of infection. Water sources are presently under-studied, as are respiratory devices in hospitals, or they are not studied at all in Israel, such as in mist machines in supermarkets, in dental clinics, and in ships and airplanes.