תוצאת חיפוש

אבראהים מרעי ויהודה שינפלד

מינוציקלין נוספה לרשימת התרופות העלולות לגרום לזאבת או לתיסמונת דמוית-זאבת. מינוציקלין נפוצה כטיפול ארוך-טווח בפצעי-בגרות, ומכאן החשיבות שבמודעות לסיכונים שבטיפול בתרופה זו. שיעור הסיכון להתהוות זאבת אידיופתית לאחר טיפול במינוציקלין אינו ידוע, אך הוא ככל הנראה נמוך. מובאת בזאת פרשת חולה בת 26, שטופלה במינוציקלין כנגד פצעים ועקב הטיפול לקתה בתיפרחת (rash) ובסימנים סרולוגיים של מחלת הזאבת (נוכחות נוגדנים כנגד מרכיבי גרעין וכנגד דנ"א). המטרה במאמר זה היא להעלות את רמת המודעות לסיבוך זה כתוצאה מטיפול במינוציקלין.

Prenatal Down's Syndrome Screening at 10-14 Weeks Gestation using the Combined Nuchal Translucency and Maternal Serum Biochemistry: Preliminary Results

Ron Maymon^1*, Marina Bergman², Shmuel Segal²,  Eli Dreazen¹, Zwi Weinraub¹ and Arie Herman¹

¹Department of Obstetrics and Gynecology, Assaf Harofe Medical Center, Zerifin 70300 (affiliated with Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv), Israel. ²Department of Obstetrics and Gynecology, Barzilai Medical Center, Ashkelon (affiliated with Ben Gurion University, Be'er-Sheeba), Israel.

We report our preliminary experience of prenatal screening for Down's syndrome (DS) using nuchal translucency (NT) measurement combined with the serum biochemistry analysis of Free b-human chorionic gonadotropin (FbhCG) and pregnancy associated plasma protein A (PAPP-A) all measurement at 10-14 weeks of gestation.

Of the 358 parturient women which enrolled in the study, 9 cases were not included because of fetal anomalies or miscarriages. Thus the study group included 349 singleton pregnancies in which complete prenatal and infant follow-up was available.

Forty-four pregnant women were found to be screen positive (12.6%) and in 13 cases (27%) of them fetal chromosomal aneuploidies were diagnosed. Looking into the markers profile we found that the NT was a sensitive marker which was abnormally increased in all the fetal aneuploidies. Serum FbhCG was found to be a promising marker as well, being significantly elevated (2.26[0.86 multiple of the medians, MoM) in DS cases, and decreased (<0.5 MoM) in two cases of Edward's syndrome.

On the contrary, PAPP-A was found less sensitive, and its mean MoM values were not significantly different between DS versus euploid fetuses.

Our preliminary results support the promising success of DS screening using NT and FbhCG.

Following 90 Patients with Antiphospholipid Syndrome: Manifestations of the Disease, Follow-Up of Antibodies Titers and Correlations with Clinical Manifestations in the Israeli Population - Patients in the Sheba Medical Center, Tel Hashomer

Ibrahim Marai, Yair Levi, Gezal Godard, Yehuda Shoenfeld

Department of Medicine B and Research Unit of Autoimmune Diseases, Chaim Sheba Medical Center (affiliated to Tel-Aviv University), Israel.

The antiphospholipid syndrome (APS) is defined by the presence of antiphospholipid antibodies (aPLs) with venous or arterial thrombosis, recurrent pregnancy loss or thrombocytopenia. The syndrome can be either primary or secondary to an underlying condition, most commonly systemic lupus erythematosus (SLE).

The purpose of the study was to review the manifestations of the APS in Israeli patients and to investigate the difference between patients with primary or secondary syndrome. Analysis of the correlation between the manifestations of the disease and the antibody titers [LA (lupus anticoagulant), IgG aCL (anticardiolipin), IgM aCL] was also performed.

In the study there were 90 patients with APS in the Sheba Medical Center. The clinical findings for all patients were recorded according to established protocol.

Results: Arterial thrombotic events were present in 51.1% of the patients; cereberal ischemic attacks were the most frequent arterial events. Venous thrombotic events were present in 45.6% patients; deep venous thrombosis was the most frequent venous event. Obstetric complications were found in 37.3% of patients; the most frequent complication was abortions. The clinical findings of patients with primary or secondary syndrome were similar. Patients with APS associated with lupus had a high prevalence of hemolytic anemia (28.6% v 3.3%; P=0.001), and ANA (antinuclear antibody) (75% v 12.9%; P=0.0001). There was no correlation between the antibody titers (LA, IgG aCL, IgM aCL) and clinical manifestations. The patients received anticoagulant treatment and antiaggregant drugs to prevent recurrence of symptoms. Clinical manifestations in Israeli patients did not differ from those in non-Israeli patients.

Conclusions: Venous or arterial thrombosis and obstetric complications are the most frequent clinical findings in APS. There was no different in clinical manifestations between primary and secondary syndrome. The findings of autoimmune hemolytic anemia and ANA were more frequent in patients with secondary APS. There was no correlation between antiphospholipid antibody titers and manifestations of disease. Overall, the patients require therapy with anticoagulant treatment and antiaggregant drugs. The clinical manifestations were similar in Israeli and non-Israeli patients.

Eosinophilic Ascites - Presenting Symptom of the Hypereosinophilic Syndrome

Sofia Rimbrot1, Michael Bennett², Marina Komorovski², Yishai Levy³

¹Department of Medicine A, ²Department of Haematology, Haemek Medical Center, Afula and ³Technion Faculty of Medicine, Haifa, Israel

We report a case of a 22 year old man with a history of bronchial asthma, suffering from diarrhea, eosinophilic ascites and prominent blood and bone marrow eosinophilia. The patient responded to corticosteroid treatment.

Later, hydroxyurea was added to this treatment because of recurrence of eosinophilia, ascites and hepatosplenomegaly.

Eosinophilic ascites is rarely the outstanding symptom of the hypereosinophilic syndrome.

Following the exclusion of other reasons for eosinophilia, concomitant unexplained hepatosplenomegaly suggested the diagnosis of a hyperereosinophilic syndrome.

Colonic Pseudo-Obstruction (Ogilvie Syndrome) Following Cesarean Section

Ido Solt, Peter Jakobi

Dept. of Obstetrics and Gynecology, Rambam Medical Center and Technion Faculty of Medicine, Israel Institute of Technology, Haifa

Acute colonic pseudo-obstruction, or Ogilvie syndrome can be a major surgical complication. Ogilvie syndrome, unlike adynamic ileus, is usually not self-limiting and may cause ischemic necrosis and colonic perforation, with a mortality rate as high as 50 percent. Ogilvie syndrome represents a diagnostic and therapeutic challenge that deserves a multidisciplinary approach. We present a case report and a literature review of the syndrome.

אביטל פורטר, אלכסנדר בטלר, דוד חסדאי

המערך לקרדיולוגיה, מרכז רפואי רבין, קמפוס בילינסון, פתח תקוה

מחלת לב כלילית מהווה את הגורם העיקרי לתמותה בעולם המערבי בכלל ובאוכלוסיית הקשישים בפרט. באופן כללי, הטיפול הניתן לחולה הקשיש הלוקה בתיסמונת כלילית חדה, הן בשלב החד והן כטיפול ממושך, נרחב פחות ופולשני פחות מזה הניתן לחולה הצעיר ואינו תואם את ההנחיות המקובלות.

חריגויות אלה מבטאות כנראה את תחושת הרופאים, שסיכויי הצלחת הטיפול נמוכים בחולה הקשיש, נוכח מחלות רקע רבות, שכיחות גבוהה של מחלה כלילית רב-כלית, וזמן ממושך יותר, יחסית לצעירים, עד קבלת סיוע רפואי.

המטרות בסקירה זו הן: 1) לבחון את הידוע כיום בספרות אודות טיפול תרופתי ופולשני בחולה הקשיש הלוקה בתיסמונת כלילית חדה; 2) לנסות לענות על השאלה, האם גיל צריך להוות שיקול בגיבוש העמדה הטיפול בתיסמונות כליליות חדות.

שי שרוט¹, יואב צפמן¹, יהודה שינפלד²

¹המח' למחלות עצבים, המרכז הרפואית תל-אביב, ²מח' לרפואה פנימית ב' והמרכז למחלות אוטואימוניות, בי"ח שיבא, תל-השומר

תיסמונת האנטיפוספוליפידיים, antiphospholipid syndrome (APS) היא מחלה רב-מערכתית שבה מעורבים נוגדנים ואנטיגנים שונים. הפרעה האוטואימונית מתבטאת קלינית באירועים פקקתיים-תסחיפיים נשנים (עורקיים וורידיים), בהפלות עצמוניות נשנות, בתרומבוציטופניה ובכייל גבוה של נוגדנים כנגד פוספוליפידים ((antiphospholipid-antibodies - aPL וכן של נוגד קרישה זאבתי (lupus anticoagulant - LA). התיסמונת יכולה להתרחש משנית למחלות אוטואימוניות אחרות (כמו זאבת אדמנתית מערכתית systemic-lupus-erythematosus (SLE), לממאירויות או לזיהומים וכן כתגובה לתרופות. כשלא נמצאת סיבה ראשונית מעין אלו להתהוות התיסמונת, היא מוגדרת כראשונית (primary APS).

הנוגדנים הנמנים עם משפחת ה- aPL מאותרים בבדיקה שבה נמדדת תגובתיות (reactivity) חיסונית כלפי קרדיוליפין (aCL) ופוספוליפידים למיניהם הטעונים שלילית, בנוכחות או ללא נוכחות  ביתא 2 – גליקופרוטאין או קופקטורים חלבוניים אחרים, או ע"י תגובתיות חיסונית כלפי ביתא 2 – גליקופרוטאין (הידוע כקופקטור חיוני לקישור ה- aPL) או קופקטורים חלבוניים אחרים לבד, או על ידי יכולתם לעכב את מנגנון הקרישה בתבחיני קרישה התלויים בפוספוליפידים (LA=).

לא כל בני-האדם עם aPL יהיו תסמיניים. בסקר פרוספקטיבי של בנק הדם התגלה, שב- 6.5% מהאוכלוסייה הכללית אובחנו בתבחין ELISA נוגדנים מסוג IgP-aPL. לעתים קרובות, יורד כיל-ה- aPLלטווח התקין עם הזמן, ללא אירועים פקקתיים.

בחולים הלוקים ב- APS, דווח על ביטויים קליניים שונים, הכוללים סיבוכים המאטולוגיים, סיבוכים בעור, מחלת מסתמי הלב והיפגעות הכליות. בנוסף, דווח על ביטויים נירולוגיים שונים המערבים בעיקר את מערכת העצבים המרכזית. בסקירה זו, נדונים ההיבטים הנירולוגיים של תיסמונת הנוגדנים האנטיפוספוליפידיים.
 

Familial Parinaud Oculo-Glandular Syndrome in Cat-Scratch Disease 

Nir Shoham, Dan Miron, Raul Raz, Hanna J. Garzozi

Depts. of Ophthalmology and Pediatrics A, and Infectious Diseases Unit, HaEmek Medical Center, Afula

Cat-scratch disease is manifested by subacute, regional lymphadenitis and occurs mainly in children. The causative agent is a pleomorphic, gram-negative bacillus, Bartonella henselae carried by asymptomatic cats. Parinaud oculoglandular syndrome is the most common ocular manifestation of this disease. It is characterized by unilateral conjunctivitis with polypoid granuloma, usually of the palpebral conjunctiva, and preauricular lymphadenopathy. The diagnosis is supported by a history of exposure to cats and is confirmed by positive serologic tests or positive PCR assay.

The occurrence of more than 1 case of Parinaud syndrome in a family is rare. We describe 2 sisters with Parinaud oculoglandular syndrome, proven by serologic tests. They reported that they used to cuddle with their cats, among them a kitten. Because of the refractory conjunctivitis and signs of imminent periorbital cellulitis, they were treated with oral tetracycline with apparently good responses.

We recommend asking about contacts with cats in any atypical conjunctivitis accompanied by regional lymphaden-opathy, especially in young patients. Systemic antibiotics should be given when there is any suspicion of significant ocular involvement, if the patient is immunosuppressed, or if there are systemic manifestations of cat-scratch disease.

Prader-Willi Syndrome: Medical, Emotional and Cognitive Facets

Varda Gross-Tsur, Yael E. Landau

Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem

Prader-Willi syndrome, first described in 1956, is characterized by marked hypotonia, hyperphagia, severe obesity, short stature, hypogonadism, orthopedic problems, breathing- related sleep disorders, mild to moderate mental retardation and behavioral abnormalities. The incidence of this syndrome, an expression of a genetic imprinting error in chromosome 15, is 1:10,000-1:25,000.

We describe the medical, emotional and cognitive parameters of 34 patients in our multidisciplinary clinic for Prader-Willi syndrome. Their ages range from 5 months to 40 years and 20 are males. Excessive weight gain started at the age of 6 years, increasing to 170-370% of that predicted by height and age and short stature started after the age of 12. All males have hypogonadism; 6 patients have scoliosis. Breathing-related sleep disorders have occurred in 15.

Children above the age of 8 years underwent neuropsychological assessment: half (9/18) have borderline intelligence while a quarter have low-normal intelligence and the remainder mild to moderate mental retardation. Behavioral and social problems are common, and become more prominent during adolescence. ADHD was diagnosed in 10/18.

Tubulo-Interstitial Nephritis and Uveitis - TINU Syndrome

Paz Yitzhaki

Dept. of Medicine A, Rambam Medical Center, Haifa

Acute tubulo-interstitial nephritis and uveitis (TINU syndrome) in a 53-year-old woman is reported. This rare syndrome was described 27 years ago by Dobrin et al. Since then about 50 cases have been described. The syndrome can appear at any age but most patients are under 20 years; about 75% are females. Clinical characteristics include fatigue, general malaise, weight loss, fever, night sweats, anorexia, nausea and vomiting, pallor, nocturia, polyuria, arthralgia and skin rash. Ocular involvement usually includes anterior uveitis but is sometimes posterior; in most cases the uveitis is bilateral.

The characteristic laboratory findings are anemia, rapid sedimentation rate, decreased glomerular filtration rate with increased serum creatinine and urea. Total protein is increased because of polyclonal gammopathy and elevated b2-microglobulin. Urinalysis characteristically reveals proteinuria and b2-microglobulinuria. The histopathologic features on renal biopsy are characteristic of tubulo-interstitial nephritis. Uveitis can precede, accompany or follow onset of the nephropathy.

The pathogenesis and etiology of the syndrome are as yet unknown. Treatment consists of large doses of corticosteroids, but the necessity for treatment is unclear, since there is evidence of spontaneous improvement. Although the prognosis of the nephropathy is favorable and most cases are reversible, the uveitis tends to recur.

Nocturnal Eating Disorder - Sleep or Eating Disorder?

Orna Tzischinski, Yael Lazer

Sleep Laboratory, Faculty of Medicine and Israel Institute of Technology; and Eating Disorders Clinic, Psychiatric Division, Rambam Medical Center, Haifa

Nocturnal eating disorder (NED) is a rare syndrome that includes disorders of both eating and sleeping. It is characterized by awakening in the middle of the night, getting out of bed, and consuming large quantities of food quickly and uncontrollably, then returning to sleep. This may occur several times during the night. Some patients are fully conscious during their nocturnal eating, while some indicate total amnesia. The etiology of NED is still unclear, as research findings are contradictory.

Those suffering from NED exhibit various levels of anxiety and depression, and many lead stressful life-styles. Familial conflict, loneliness and personal crises are commonly found. Recently, a connection has been discovered between NED and unclear self-definition, faulty interpersonal communication, and low frustration threshold. Several authors link it to sleepwalking, leg movements during sleep, and sleep apnea. Treatment is still unclear and there have been trials of pharmacotherapy, psychotherapy, or a combination of both. However, pharmacological treatment has generally been found to be the most effective, although each case must be considered individually.

In 1998, 7 women referred to our Eating Disorders Clinic, 5% of all referrals, were subsequently diagnosed as suffering from NED. Of these, 3 suffered from concurrent binge-eating disorder and 4 also from bulimia nervosa. 2 case studies representative of NED are presented.

Hemophagocytic Syndrome

I. Morag, M. Goldman, T. Bistrizer, C. Kaplinsky

Pediatric Division, Assaf Harofeh Medical Center, Zerifin and Pediatric Hematology-Oncology Dept., Chaim Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel Aviv University

Hemophagocytic syndrome is a rare, fulminant disease characterized by generalized histiocytic proliferation associated with phagocytosis of erythrocytes, platelets, and to a lesser extent, of white blood cells. We report a 2-year-old boy admitted with high fever and irritability, with a rash, marked hepatomegaly and generalized lymphadenopathy. Liver function tests were abnormal and there was thrombocytopenia and hyperlipidemia. Bone marrow aspiration revealed hemophagocytosis. Despite intensive treatment with steroids, intravenous immunoglobulin and cytotoxic drugs, he died within 10 weeks.

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.

Screening for Down's Syndrome by Measuring Fetal Nuchal Translucency Thickness

Ron Maymon, Eli Dreazen, Zwi Weinraub, Ian Bukovsky, Arie Herman

Ultrasound Unit, Dept. of Obstetrics and Gynecology, Assaf Harofeh Medical Center, Zerifin, and Sackler Faculty of Medicine, Tel Aviv University

Increased fetal muchal translucency (NT) thickness at 10-14 weeks of gestation may indicate underlying fetal chromosomal abnormalities, anatomical anomalies and genetic syndromes. Between January 1997 and May 1998, 1400 women 10-14 weeks pregnant underwent sonographic screening for detection of Down's syndrome (DS). Follow-up was complete in 1208 (86%).

Maternal age ranged from 17-44 years (mean 18.0). 87% were found by screening to have a higher risk (1:380) for DS diagnosed at birth. All these fetuses were karyotyped and 8 had chromosomal abnormalities. 2 fetuses with normal NT were diagnosed later as having DS, 1 by the mid-gestation triple test and 1 by amniocentesis because of advanced maternal age.

Thus sonographic screening identified 8 out of 10 fetuses found to have chromosomal abnormalities at birth. Neonates not karyotyped before birth had no traits at birth that justified chromosomal analysis. Results of this study suggest that NT measurement, combined with maternal age, is an effective 1st trimester screening method for DS in an unselected obstetric population.

Elastofibroma, a Rare Cause of Snapping Scapula Syndrome

Ilan Cohen, Yehuda Kolender, Josephine Isakov, Aaron Chechick, Yitzhak Meller

Dept. of Orthopedic Surgery, Sheba Medical Center, Tel Hashomer and Depts. of Orthopedic Oncology and Pathology, Sourasky Medical Center, Tel Aviv

Scapular pain is a common complaint in daily orthopedic practice. A different type of scapular discomfort, the snapping scapula syndrome that occurs when smooth gliding motion of the scapula upon the chest wall is interfered with is much less common.

We studied the syndrome of periscapular pain and discomfort, and present a rare etiology: elastofibroma dorsi, a unique, benign, soft tissue-tumor with unique characteristics.

Elastofibroma appears deep to the lower scapular pole, is often bilateral, and consists of a mixture of collagen, elastic fibers and fibroblasts. We present 6 cases, in 3 men and 3 women aged 51-65.