תוצאת חיפוש

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.

Mesalamine-Induced Hyper- Sensitivity Pneumonitis

D. Zamir, J. Weizman, C. Zamir, Z. Fireman, P. Weiner

Dept. of Medicine A and Gastroenterology Unit, Hillel Yaffe Medical Center, Hadera and Hadera Subdistrict Health Office

A 23-year-old woman was admitted with a history of 2 weeks of cough, fever and bilateral lung infiltrates. She had been diagnosed 2 months before as having ulcerative proctitis and was treated with mesalamine, which induced a full remission, but 3 antibiotic regimens failed to improve her lung disease.

Since computerized tomography revealed bilateral peripheral lung infiltrates and her eosinophile count was elevated, the diagnosis of drug-induced eosinophilic pneumonia was suggested. Mesalamine and antibiotics were stopped and oral corticosteroids begun. She became almost asymptomatic a week after mesalamine withdrawal, and the x-ray became normal.

Prevalence of Medical Complaints in the Community-Dwelling Elderly

J. Gindin, M. Geitzn, M. Dushenat, H. Siboni, D. Goldstein, Z. Shapira, N. Konstantin, A. Wurm, A. Goldsmid, E. Hay-Am

Geriatric Institute of Education and Research, Kaplan Medical Center, Rehovot; Pharmacology Dept., Kupat Holim Klalit, Tel Aviv and Central District; and Kupat Holim Klalit, Rishon LeZion

We assessed the prevalence of self-reported medical complaints among the community-dwelling elderly receiving regular medication, and determined associations between health and sociodemographic variables, and the prevalence of complaints.

The study included 170 patients, 60-90 years of age, living at home. Participants were recruited from the 3 main primary care clinics in Rishon LeZion. All were receiving chronic medication and were followed-up utilizing a long-term medication card. Data were gathered in interviews held in patients' homes using a structured questionnaire which included sociodemographics, diseases and medication, mental state assessment by Katzman's score, and a list of 15 medical complaints common among the aged. Relations to age, gender, education, living arrangements, number of diseases and number of medications per patient were determined.

Mean age of participants was 73.2±6.0 years and they suffered an average of 4.07±2.16 diseases and took 5.10±2.83 types of drugs. The most prevalent complaints were: weakness and fatigue (65.0%), agitation and restlessness (56.4%), dry mouth (45.6%), constipation (43.6%) and dizziness (43.2%). The number of diseases, gender, education and age had the strongest associations with the prevalence of specific complaints, as well as their total number. The association between number of medications and mean number of complaints was of borderline significance.

ACE Gene Polymorphism in a Diabetic Cohort and Diabetic Nephropathy

Orna Levinson, Shmuel Oren, Chana Yagil, Marina Sapojnikov, Alexander Wechsler, Rosanna Bloch, Yoram Yagil

Laboratory for Molecular Medicine, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba and Barzilai Medical Center, Ashkelon

The renin-angiotensin system is thought to play an important role in the pathophysiology of kidney disease in diabetes. Previous studies have shown a possible association between the D allele of the angiotensin converting enzyme (ACE) gene, known to be associated with higher circulating levels of ACE, and increased risk of developing nephropathy in NIDDM. The present study investigated the distribution of ACE gene genotypes in the general population and patients with NIDDM, the association between the D allele and diabetic nephropathy, and the association between the ACE genotype and involvement of other target organs in NIDDM. The ACE genotype (insertion/deletion I/D) was determined in all subjects, subsequently divided into 3 groups based on their polymorphism (DD, DI and II). The presence of nephropathy was defined by an albumin-creatinine ratio of 30 mg/g or greater (mean of 2 first morning urine samples).

In the general population most had the D allele (DD or ID) and a minority the II genotype. There was no association between genotype and hypertension, ischemic heart disease, hyperlipidemia, and cerebrovascular or peripheral vascular disease. In diabetics the genotype distribution was not different from that in the general population. Within the diabetic group, there was no association between genotype and hypertension, hyperlipidemia, duration of diabetes, or HbA1C levels. Nephropathy, found in 81 of the 156 with NIDDM, was not associated with genotype. Diabetic nephropathy was not associated with retinopathy, neuropathy, or ischemic heart, cerebrovascular or peripheral vascular disease. We conclude that in the population sampled, there was no association between the D allele of the ACE gene and the risk of developing nephropathy in NIDDM.

Home Palliative Care of Terminal Cancer Patients, with Family Feedback

Hana Arad, Hana Geva, Valery Rosin, Ruth Kibrik, Isaac Kersz

Home Care Unit of Kupat Holim Haklalit, HaEmek Medical Center, Afula and Quality Improvement Unit, Rambam Medical Center, Haifa

Palliative care of terminal cancer patients is one of the tasks of our Home Care Unit. Increasing hospitalization costs have brought forward the decision to treat them at home, assuming that they would prefer to return and die in their natural surroundings, among family.

Most of our patients are aged, recent immigrants from the Soviet Union, of low socioeconomic status; most live with their close families. Our care model combines social, cultural, economic, medical and nursing aspects. More patients choose to die at home, and that is where costs are minimal. Care management and characteristics of 44 terminal cancer patients, who died between January and October 1996, are described. Living with a family was not required for treatment at home. Length of care by the unit ranged from 1-48 weeks, with an average of 8.5 and a median of 6. 55% of patients were hospitalized, most (58%) for 5-9 days for noncancerous diseases, and then discharged home. 54% died at home, a third were hospitalized for 2-17 days before death. Compared to the average length of stay in palliative care oncology wards, 1044 days and more than NIS 500,000 were saved.

A telephone survey examined families' satisfaction with various components of care. 92% were satisfied with the home treatment. 79%-82% felt that the nurse and doctor of the team met their needs and expectations. Half the families were satisfied with the treatment of pain. Families in which treatment was 24 weeks or more were generally less satisfied than those with shorter treatment at home. We learned that an early entry into treatment is necessary; hospital referral criteria should consider to a greater extent the coping ability of families; nursing aid hours should be increased and professional emotional support added; additional pain control methods should be used. All these would strengthen families, improve quality of care, and contribute to additional savings by decreasing hospital stay.

Attentional Characteristics of Developmental Right Hemi-Sphere Syndrome

Yael E. Landau, Varda Gross-Tsur

Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem

Developmental right hemisphere syndrome (DRHS) is characterized by emotional and interpersonal difficulties, attention deficit hyperactivity disorder (ADHD), visuo-spatial handicaps, subtle left body neurologic signs and failure in nonverbal academic domains, especially arithmetic. Concurrence of ADHD and DRHS is not surprising because research has implicated dysfunction of the right hemisphere in both syndromes. Furthermore, the right hemisphere has more brain areas devoted to attentional processing, making it more important and more vulnerable in attentional problems.

We describe the clinical parameters of DRHS as exemplified by 2 cases, a boy and a girl, both 13 years old. They participated in a study group in which attention and speed of performance were assessed in children with DRHS and were compared to children with ADHD and to a control group. A tendency to overfocusing, difficulty in inhibition, perseverative behaviors, stereotypy, and slowness and absence of hyperactivity characterized the DRHS group. These behaviors led us to hypothesize that the attentional symptoms in DRHS define a specific subgroup of ADHD which requires a different therapeutic approach.

Acute Malaria in an Israeli Tourist to Kenya

Doron Zamir, Chen Zamir, Shimon Storch, Moni Litmanovich, Paltiel Weiner

Dept. of Internal Medicine A, Hadera Sub-District Health Office and Nephrology Dept. and Intensive Care and Infectious Disease Units, Hillel Yaffe Medical Center, Hadera

Malaria is 1 of the main causes of death in third world countries. It has become extinct in Israel and imported cases are rare, since most visitors to endemic countries take anti-malarial prophylaxis. We report an Israeli tourist to Kenya infected with falciparum malaria complicated by severe metabolic acidosis, renal failure and adult respiratory distress syndrome. After intensive care treatment this preventable condition improved.

Plagiocephaly in Children: Etiology, Differential Diagnosis and Helmet Treatment

A. Margulis, V. Hatuel, A. Weinberg, A. Neuman, Z. Israel, M.R. Wexler

Depts. of Plastic Surgery, Occupational Therapy, and Neurosurgery, Hadassah University Hospital, Jerusalem

Plagiocephaly in a head-and-neck irradiated rat model or rhomboid-shaped head, occurs in at least 1 in 300 live births. In most cases such asymmetry is not caused by synostosis of the unilateral coronal or lambdoid sutures, but is rather a deformity produced by intrauterine and/or postnatal deformational forces. Categorization and diagnosis of plagiocephaly as synostotic or deformational is reliably made by physical examination and computerized tomography. Its differential diagnosis is extremely important because prompt surgical correction is usually indicated for the synostotic type. In contrast, infants with deformational frontal or occipital plagiocephaly generally respond to helmet treatment.

10 infants with significant deformational plagiocephaly were treated with individual plastic helmets during the past 2 years and 4 other infants with plagiocephaly are currently being treated. In each instance, cranial asymmetry dramatically improved as the brain grew and the head filled out the helmet. There were no significant complications. Awareness of deformational plagiocephaly allows more accurate diagnosis and appropriate treatment, avoiding unnecessary surgical intervention in patients with positional molding.

Smoking and Incidence of Lung Cancer, 1981-1995

Orna Baron-Epel, Helena Andreev, Micha Barchana, Manfred S. Green

Israel Center for Disease Control, Ministry of Health, Tel Hashomer, Israel; Cancer Registry, Ministry of Health, Jerusalem, and Dept. of Epidemiology and Preventive Medicine, Faculty of Medicine, Tel Aviv University

Smoking is the dominant risk factor for lung cancer. We compared trends in smoking with those of the incidence of lung cancer in Israel. The proportion of smokers has declined during the past 20 years; the decrease is greater in men than in women, and more marked in the elderly. Since 1980 the age-adjusted incidence of lung cancer in Jewish men has decreased slightly, but in women it has remained constant. Among Arab men there was an increase in age-adjusted incidence of lung cancer and since 1986 it has been higher than in Jewish men.

The largest decrease in lung cancer incidence was among Jewish men aged 75 and over. This may be explained by data on the age of smoking cessation in the population. It was observed that the main decrease in smoking occurred among men over the age of 55 in the past 20 years, which correlates with the decline in lung cancer observed in the older age group. Lung cancer rates in Israel are lower than in other western countries despite the similar prevalence of smoking, for unknown reasons.

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.

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.

Multisystem Disease Caused by BCG Imitating Miliary Tuberculosis

I. Tsikonov, D. Yeshurun, J.E. Naschitz

Dept. of Medicine A, Bnai Zion Medical Center and B. Rappaport Faculty of Medicine, The Technion, Haifa

As the prevalence of tuberculosis is on the rise in western countries, we present a 79-year-old man who developed a pulmonary tuberculosis-like syndrome following immunotherapy with BCG for carcinoma of the urinary bladder. The symptoms subsided following 3-drug antitubercular treatment, and the addition of steroids following negative cultures for Mycobacterium tuberculosis. The course of this disease, named BCG-osis, is much more favorable than miliary tuberculosis, even with milder treatment. It is important to keep in mind this phenomenon now that there is increasing treatment of cancers with BCG.

Cerebellar Infarction: Clinical Presentation, Diagnosis and Treatment

Y. Skurnik, S. Brandiner, G. Gandelman, Z. Shtoeger

Medical Dept., Kaplan Medical Center, Rehovot (Affiliated with Hebrew University-Hadassah Medical School, Jerusalem) and Dept. H, Harzfeld Hospital, Gedera

Cerebellar infarction is relatively infrequent and accounts for about 2% of all strokes. Its clinical presentation and course are variable. It may resemble vestibulitis in mild cases, but the presentation may be more dramatic in other cases. Cerebellar infarction may cause life-threatening complications such as acute hydrocephalus or brain stem compression, resulting from their mass effect in the posterior fossa or extension of the infarct to the brain stem.

Clinical features alone are insufficient for the diagnosis and for follow-up of patients with cerebellar infarction. However the advent of CT and MRI and their availability enable early diagnosis of cerebellar infarction, and early recognition of the development of acute hydrocephalus or brain stem compression which require surgical decompression. The prognosis of most cases is good when treatment is appropriate.

The Challenge of Space-Occupying Lesions in the Iliopsoas Space

Irena Tsikonova, Jochanan E. Naschitz, Simona Croitoru, Elisha Barmeir, Daniel Yeshurun

Depts. of Medicine and Diagnostic Imaging, Bnai Zion Medical Center, and Bruce Rappaport Faculty of Medicine, The Technion, Haifa

Mass lesions in the iliopsoas compartment (MLIPC) are uncommon in patients in departments of medicine and their incidence and etiologies are unclear. In a prospective study we diagnosed various MLIPCs in 7 patients during a 10-year period, representing 0.03% of admissions. Symptoms included abdominal or flank pain (4 cases), pain along the thigh (5), diminished psoas muscle strength (2), fever (2), and hypotension (1). MLIPC was suspected on clinical grounds in 5 cases. In all cases the diagnosis was established by computed tomography (CT). Tissue was sampled by needle biopsy in 4 and on surgery in 1. MLIPCs were caused by hemorrhage (2), infection (2), neoplasia (2) and inflammatory mass (1). Often MLIPCs are life-threatening so their timely diagnosis by early CT scan is important.

Ultrasonographic Imaging of Superior Sagittal Thrombosis

Ilan Shelef, Avi Cohen, Yehiel Barki

Depts. of Radiology and Neurosurgery, Soroka Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba

Ultrasonographic findings of superior sagittal sinus thrombosis include dilated and hyperechoic sinus (direct imaging of the thrombus). No flow should be demonstrated by the various Doppler techniques. In the deeper sinuses, if the thrombus can not be visualized after a negative Doppler study, MR imaging is recommended. Recanalization and reflow can be demonstrated on follow-up study.