תוצאת חיפוש

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.

Viagra, the First Oral Treatment for Impotence

Y. Assouline-Dayan, Y. Levi, Y. Shoenfeld

Medical Dept B, Chaim Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University

Impotence, a common problem especially among older men, can now be treated with Viagra, This oral pill, unlike previous approved treatments mostly involving local injections, does not directly cause penile erection, but increases response to sexual stimulation. It acts by enhancing the relaxant effects of nitric acid on smooth muscle, and thus increases blood flow to certain areas of the penis, leading to erection. It has been evaluated in many randomized trials and in all was more successful in inducing erection than placebos. The most common side-effects include headache, flushing and indigestion, but there have also been reports of fatalities.

We describe a 75-year-old man who had an acute myocardial infraction in the past and who had maturity-onset diabetes and hypertension. In the week prior to admission he had a cardiac scan following a few weeks of exacerbation of anginal pain for which he had been taking nitrites. He took a Viagra pill without prescription or medical advice and 2 hours later, during intercourse with his wife, developed audible respiratory distress and lost consciousness. His wife started cardiac massage but not mouth-to-mouth breathing. The emergency team found ventricular fibrillation and gave 5 electrical shocks and amines and atropine. He remained unconscious, but his pulse returned and he was hospitalized. He then had several generalized convulsions treated with IV valium. 20 minutes after admission there was asystole and all attempts at resuscitation failed.

Cardiovascular status must be considered prior to prescribing Viagra, and the associated risk evaluated.

Chylothorax following Penetrating Injury

Y. Kluger, B. Sagie, Y. Chemo, A. Ravid, Y. Paz, J. Klausner

Dept. of Surgery, Rabin Trauma Center and Sourasky-Tel Aviv Medical Center, Sackler Faculty of Medicine, Tel Aviv

We describe a 19-year-old man with 9 stab wounds of the chest. Initial evaluation revealed paraplegia at the D-10 level and bilateral hemothorax. 2 days after admission right-sided chylothorax was diagnosed. Fasting and total parenteral nutrition resulted in complete clearance. Chylothorax can cause major metabolic consequences, but prompt treatment results in full recovery.

Clinical Characteristics of Crohn's Disease in Children and Adults

Yoram Menachem, Zvi Weizman, Chaim Locker, Shmuel Odes

Gastroenterological Institute and Pediatric Gastroenterology and Nutrition Unit, Soroka Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba

There are few reports contrasting the clinical characteristics of Crohn's disease in different age groups. We therefore compared retrospectively children and adults with Crohn's disease. 23 children (mean age: 12.8±2.5 years) and 66 adults (mean age: 27.0±4.0 years) were studied. Presenting symptoms of abdominal pain and diarrhea were significantly more common in adults, while in children anorexia and weight loss were more frequent. Children tended to present with extra-gastrointestinal tract symptoms as well, mainly anemia and joint involvement. Common symptoms during active disease did not differ between groups, except that weight loss, evident in all children, was found in only 70% of adults. Anemia was present during active disease in all pediatric cases but in only 62% of adults. There were no significant differences between groups regarding disease location, gastrointestinal complications and extra-intestinal manifestations. We conclude that in children Crohn's disease may differ significantly, mainly presenting with nonclassical symptoms, such as anemia and joint involvement. The primary care physician should be aware of these differences.

Gentamycin Distribution Volume in a Mechanically Ventilated Patient

H. Seligmann, S. Nicola, S.H. Krimerman

Clinical Pharmacology and Intensive Care Units, Bnai-Zion Medical Center and Bruce Rappaport Faculty of Medicine, The Technion, Haifa

Mechanical ventilation (MV) of more than 32 hours may alter the gentamycin pharmacokinetic profile by increasing its volume of distribution (VD). As a result, the standard garamycin dosage regime has to be adjusted in order to obtain an adequate peak serum concentration, which is well correlated with the efficacy of garamycin therapy. Garamycin is a water- soluble drug with negligible binding to plasma albumin, so its VD approximates the volume of extra-cellular fluid, which may be expanded by MV. MV-related fluid retention is mediated via various homeostatic compensatory systems. They are activated to combat the decrease in cardiac output and central blood volume caused by MV, due to the increase in airway and intrathoracic pressure. These phenomena are more prominent during prolonged ventilation, PEEP or C-PAP ventilation, and in previously hypovolemic patients. Patients requiring MV for more than 32 hours had an average garamycin VD of 0.36 L/Kg compared with the mean VD of 0.25 L/Kg in normal adults. In the patient presented, a similar change in garamycin VD was seen, while conventional doses given during MV failed to reach suitable clinical peak levels.

Brain Imaging and its Clinical Application in Psychiatry

Talma Hendler, Raz Gross, Elinor Goshen, Meir Faibel, Shmuel Hirshmann, Tzila S. Zwass, Leon Grunhaus, Joseph Zohar

Psychiatry Unit, Nuclear Medicine Institute and Diagnostic Radiology Dept., Chaim Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel Aviv University

The common structural and functional brain imaging techniques are described from a practical, clinical point of view. The clinical indications for brain imaging in psychiatry are reviewed in relation to the specific limitations and advantages of each technique. The clinical applications of computerized tomography (CT), magnetic resonance imaging (MRI) and single photon emission computerized tomography (SPECT) are discussed in relation to the differential diagnosis between organic and functional psychiatric disorders. In a 55-year-old man with late onset of behavioral changes but without neurological signs the application of structural brain imaging (CT and MRI) in case management was demonstrated. The imaging findings involved the differential diagnosis between depression and focal brain lesions. In a 38-year-old man with personality changes and depression following a traumatic brain injury, time interval repeated functional brain imaging (SPECT) was used. Brain imaging reflected improvement in clinical status following treatment and was able to differentiate between reversible and permanent traumatic brain injuries. The superior yield of time interval repeated functional imaging in diagnosis and management of postconcussion syndrome is discussed.

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.