תוצאת חיפוש

גיל דובנוב, אליוט בארי

המח' למטאבוליזם ולתזונת האדם, הפקולטה לרפואה, האוניברסיטה העברית, ירושלים

הבנת תהליך ההזדקנות, ודרך כך הארכת תוחלת החיים ושיפור איכות החיים, מהווים מטרה למחקר רחב היקף. עוד בטרם יפרוץ הדיון בעתיד בדבר אפשרויות הארכת תוחלת החיים, הידע המצטבר בנושא זה תורם להבנת התהוותן של מחלות הקשורות לזיקנה. בבסיס מנגנון ההזדקנות שמור מקום נכבד לקיום נזק חימצוני יומיומי, אם כי ברור כיום כי אין זה הגורם היחיד להתקדמות התהליך: מספר גנים ותוצריהם נמצאו משפיעים על קצב ההזדקנות, ביניהם חלבוני הטלומראזה. נזק חימצוני התגלה כתורם להתהוותן של מחלות הקשורות לזיקנה, כגון מחלות לב, מחלות אלצהיימר ופארקינסון, סוגי סרטן שונים וכד', אם כי נראה שגורמים נוספים משתתפים בתהליך זה. כל התערבות המיועדת להאריך את תוחלת החיים, חייבת להיות מלווה בהפחתת היארעות של מחלות הקשורות לזיקנה, שכן מטרה עילאית היא לא רק להעלות את תוחלת החיים, אלא גם את איכות החיים. בתקופתנו, טיפול במחלת זיקנה אחת מהווה רק גשר זמני עד להופעת מחלה אחרת. בנוסף לנטל התחלואה על החולה ובני-משפחתו, קיים גם נטל כלכלי – הוצאות בתחומי בריאות וסיעוד לכל קשיש בארה"ב מגיעות לעשות ומאות אלפי דולרים. לפיכך, הארכת תוחלת החיים צריכה להיעשות באופן שימגר את המחלות הגיל הקשיש, על-מנת שתתאפשר איכות חיים טובה הן לקשיש והן לבני משפחתו.

בסקירה זו יובא ההסבר המקובל היום על מנגנון ההזדקנות. בנוסף יוצגו מספר דרכים להאטת קצב ההזדקנות: ראשית, צריכה מופחתת של מזון; ושנית, מספר התערבויות גנטיות נבחרות. ייתכן שאחת מדרכים אלו או תגלית כלשהי בעתיד, יהפכו מעיין הנעורים הנעלם.

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.

Severe Hypercalcemia Due to Renal Transitional Cell Carcinoma

D. Zamir, J. Weizman, N. Erlich, M. Amar, P. Weiner

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

Hypercalcemia is a common metabolic disorder, especially in the elderly. The most common etioloare hyperparathy-roidism or malignancy, most often of the lung, breast, kidney or hematological system. Because hypercalcemia is an uncommon manifestation in urinary tract epithelial tumors, especially those of the renal pelvis, we present a man aged 62 years with hypercalcemia due to renal transitional cell carcinoma.

High Alkaline Phosphatase in Subacute Thyroiditis

Rami Kantor, Rachel Pauzner, Elena Pali, Zvi Farfel

Dept. of Internal Medicine E, Chaim Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel Aviv University

Subacute thyroiditis may be hard to diagnose, therefore patients are sometimes misdiagnosed and subjected to unnecessary work-up. We report a 37-year-old man with subacute thyroiditis and a high concentration of serum alkaline phosphatase. After aspirin treatment there was clinical improvement and decrease in rapid ESR, and in high serum thyroxin and alkaline phosphatase. The increased alkaline phosphatase, seen in as many as 50% of patients, is of hepatic origin, and is not caused by high serum thyroxin. Awareness of this relationship may help in diagnosis and may prevent unnecessary diagnostic procedures, which may be invasive.

Islet Autoantibody Assays in Type I Diabetes can Replace ICA Test

Daniel Lazar, Naomi Weintrob, Natalia Abramov, Sara Assa, Konstantin Bloch, Regina Ofan, Hadassa Ben-Zaken, Pnina Vardi

Institute for Pediatric Endocrinology and Diabetes, Schneider Children's Medical Center, Petah Tikva and Felsenstein Medical Research Center, Tel Aviv University

Islet cell antibodies (ICA) continue to serve as the basis of the principal serological test for definition of active autoimmunity of beta-cells. Its disadvantages are the need for human pancreatic tissue and difficulty in obtaining quantitative results. In the past decade biochemically-defined beta-cell antigens were described, leading to the development of sensitive and specific autoantibody assays, to predict insulin-dependent diabetes mellitus (IDDM). We examined the value of combined biochemically-based serological assays, such as autoantibodies to insulin (IAA), glutamic acid decarboxylase (GADA) and ICA512 (ICA512A) to replace the traditional ICA assay.

Blood samples of 114 newly diagnosed IDDM patients, aged 12‏5 yrs (range 2 months - 29 years) were tested for ICA (indirect immunofluorescence), IAA, GADA and ICA512A (radiobinding assay). The latter 2 assays were performed using recombinant human [35S]-labeled antigen produced by in vitro transcription/translation. We found that fewer sera scored positive for ICA and/or IAA (80.7%, 92/114) than for 1 or more of IAA, GAD, or ICA512 (88.6%, 101/114). We conclude that combined testing for IAA, GAD and ICA512 can replace the traditional ICA/IAA test to predict IDDM and is helpful in the differential diagnosis of insulin-dependent and noninsulin-dependent diabetes.

Acute Hyperparathyroidism Caused by Hemorrhage into a Parathyroid Adenoma

I.E. Priel, Rama Katz, E. Dolev

Depts. of Medicine E and Radiology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel Aviv University

Acute hyperparathyroidism is a rare and dangerous condition. It is supposed to result from transformation of a mild chronic form into an acute and stormy illness. The causes and the mechanism of such a transformation are usually unknown. A case of acute hyperparathyroidism is presented in which hemorrhage into a parathyroid adenoma was recognized and diagnosed as the immediate cause of the transformation from the mild long-standing form of the disease into the severe acute form.

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.