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.

Non-Penetrating Deep Sclerectomy without Collagen Implantfor Glaucoma

Ben Zion Silverstone, Isaac Aizenman, Carmit Landau, Yaacov Rozenman

Ophthalmology Dept., Shaare Zedek Medical Center, Jerusalem

Deep sclerectomy (DS) can be used in glaucoma with increased intraocular pressure when medical treatment fails. It involves removing part of the ocular drainage apparatus. Resistance to intraocular fluid drainage is decreased, improving drainage and decreasing intraocular pressure. By avoiding anterior chamber penetration, DS diminishes frequency of the complications of filtering surgery.

24 eyes of 23 patients underwent DS for primary or secondary open angle glaucoma with elevated intraocular pressure not controlled medically. It included preparation of a 4.0 x 4.0 mm limbal-based external scleral flap, dissecting and removing most of an internal scleral flap (leaving it 1 mm smaller than the external flap), unroofing Schlemm's canal and removing fine endothelial tissue lining its inner walls. The external scleral flap was then repositioned and sutured. Collagen implants were not used. In some cases DS was combined with extracapsular cataract extraction and intra-ocular lens implantation.

Mean intraocular pressure decreased from 24.8‏3.9 mmHg initially to 12.8‏4.4 mmHg 6 months after operation (p<0.0001). There was no difference in postoperative intra-ocular pressure between DS as a single procedure or as part of a combined operation. Comations were mild and of short duration.

If long-term follow-up shows that lowered intraocular pressures are maintained, DS should be a surgical option in earlier stages of glaucoma.

Elective Repair of Infra-Renal Aortic Aneurysm 

J.D. Cohen, P. Singer, M. Haddad, A. Zelikovski

Depts. of General Intensive Care and Vascular Surgery, Rabin Medical Center, Beilinson Campus; and Sackler Faculty of Medicine, Tel Aviv University

Age over 80 years is generally considered an independent risk factor in elective surgery for abdominal aortic aneurysm (AAA). As the general population increases in age, more elderly are likely to be candidates for such surgery.

We studied prospectively 100 consecutive patients undergoing elective AAA surgery between 1992-1995. All were operated on by the same team of anesthetists and surgeons and all were transferred to the general ICU for at least the first 24 hours. 16 were above the age of 80 (Group I) and 84 below (Group II).

We recorded preoperative factors (demographics, medical history, risk factor indices, EKG findings, as well as left ventricular ejection fraction (LVEF) and stress imaging when indicated); intraoperative factors (duration of surgery, size of aneurysm, complications and units of blood transfused); postoperative factors (length of ICU stay, duration of ventilation, APACHE II [Acute Physiological and Chronic Health Evaluation] and TISS [Therapeutic Intervention Scoring System] scores; complications in the ICU, need for readmission to the ICU, and mortality).

In Group I LVEF was greater (p=0.03) and aneurysm size significantly larger (p=0.036), but there were no other significant differences between the 2 groups with regard to pre- and intraoperative data. Group I patients were not ventilated as long (p=0.038), but there were no significant differences in outcome factors. Mortality for the whole group was 5% and was not significantly different in the 2 groups (1/16 in Group I and 4/84 in Group II).

We conclude that there is no excess morbidity or mortality in octogenarians undergoing AAA surgery. However risk of the aneurysms rupturing is significantly greater since they are larger. We suggest that age not be considered the sole criterion for aneurysm repair, or at least not in selected patients with normal LVEF.

Placenta Accreta with Placenta Previa after Previouscesarean Sections 

Eylon Lachman, Alexander Mali, Gabriel Gino, Michael Burstein, Michael Stark

Depts. of Obstetrics and Gynecology and of Pathology, Misgav Ladach Hospital, Jerusalem

The increased rate of cesarean sections in recent decades has brought with it an increase in the frequency of placenta accreta. There are direct correlations between previous cesarean deliveries and also maternal age, with the risk of placenta accreta. There is also a direct correlation between placenta accreta and placenta previa.

The risk of placenta accreta in women who have had placenta previa is 2% for those younger than 35 years and with no history of uterine surgery. The risk increases to 39% for those over 35 who have had 2 or more cesarean sections.

We present 3 cases of placenta accreta admitted in 15 months, all of whom had a history of cesarean sections. The frequency of placenta accreta in our hospital is 1:1,579 deliveries, in line with the 1:1,420 in the literature. We consider hysterectomy the treatment of choice for this serious complication. When performing a cesarean in cases of placenta previa with a history of cesarean sections, the possibility of placenta accreta should be considered.

Relationship Between Preterm Birth and Exertion During Pregnancy

S. Gazit-Nissim, E. Sheiner, M. Mazor, I. Shoham-Vardi

Depts. of Obstetrics and Gynecology, Epidemiology and of Health Services Evaluation, Soroka-University Medical Center, and Ben-Gurion University of the Negev, Beer Sheba

The relationship between physical activity at home and at work during pregnancy and preterm birth was studied. Using a case-control design, 99 women who delivered preterm were compared with 189 women who had term deliveries. The risk of preterm birth was tested in relation to characteristics of work in and outside the home. All women were interviewed post-partum before discharge.

There were no statistically significant differences between the groups in relation to sociodemographic and obstetrical factors, but level of education was significantly lower in the study group versus the control group (p=0.001).

Women who delivered preterm had devoted less time 3 months prior to delivery to household chores (mean of 3.7 hours vs. 4.8 hours in the control group, p=0.002). They also had spent less time walking around the home than the controls (1.2 vs. 1.5 hours, p=0.02). There were no differences between the groups in relation to physical activity outside the home, not during working hours, nor in duration of work. Significantly fewer women who delivered preterm were active in sports (odds ratio 0.22; 95% confidence interval 0.50-0.65; p=0.002).

A low level of education was significantly related to the risk of preterm birth, which may have resulted from lesser compliance with their physician's recommendations. It appears that in women not used to significant physical activity but who had access to adequate prenatal care, physical effort during pregnancy was not related to a higher risk of preterm birth.

Microlaparoscopy in Diagnostic and Operative Gynecologic Procedures 

Dov Dicker, Shmuel Nitke, Itai Bar-Hava, Raul Orvieto, Zion Ben-Rafael, Arie Dekel

Depts. of Obstetrics and Gynecology, Rabin Medical Center, Beilinson and Golda Campuses, Petah Tikva; and Sackler School of Medicine, Tel Aviv University

A recent further development in laparoscopic surgery is microlaparoscoopy. The technique is identical to standard 10 mm laparoscopy except for the use of small, 2 mm scopes and trocars. We used this technique in 19 patients treated from June 1998 to February 1999.

The advantages of microlaparoscopy are: smaller incisions, less risk of damage to pelvic organs and less postoperative pain. However, the use of microlaparoscopy for operative procedures is limited to simple operations due to the limited field of vision. We urge our colleagues to consider microlaparoscopy whenever diagnostic laparoscopy is needed.

Phenobarbital Coma for Psychogenic Status Epilepticus

A. Taliansky, U. Kramer, M.Y. Neufeld

EEG and Epilepsy Unit, Dept. of Neurology and Neuropediatric Unit, Tel Aviv-Sourasky Medical Center

Among patients seen for epileptic seizures, there is a subgroup of those who do not have epilepsy but suffer from psychogenic paroxysmal events which mimic epileptic seizures. The differential diagnosis between them is of the utmost importance, as incorrect diagnosis of seizures subjects the patient to incorrect management. In the case psychogenic status epilepticus, the treatment may endanger the patient.

We report 3 women, aged 20, 20 and 28 and a man aged 24 with psychogenic status epilepticus admitted to an intensive care unit and treated by induction of phenobarbital coma when other antiepileptic medication failed.

Spontaneous Bilateral Ectopic Pregnancy 

David Rabinerson, B. Kaplan, Zion Ben Rafael, Arie Dekel

Dept. of Gynecology, Beilinson Medical Center, Golda Campus, Petah Tikva, and Sackler Faculty of Medicine, Tel Aviv University

Bilateral, spontaneous ectopic pregnancy is rare (1 in 125-1580 ectopic pregnancies). We describe a 30-year-old, unmarried woman with no predisposing factors for ectopic pregnancy who presented in hypovolemic shock, in the 7th week of gestation, complaining of abdominal pain. On immediate laparoscopy there were found blood and clots in the abdominal cavity, a left ampullar pregnancy (5 cm in diameter), and there was active bleeding from the fimbria of the right tube. Bilateral salpingectomy was performed and she received 3 units of packed red cells. She was discharged in good condition 3 days later. The pathologic diagnosis was pregnancy in each tube. This case emphasizes the need for thorough sonographic and laparoscopic observation in order not to miss the presence of bilateral ectopic pregnancy.

Sacrospinous Ligament Fixation for Vaginal Vault Prolapse

M. Neuman, B. Zuckerman, O. Lavie, U. Beller

Division of Gynecological Surgery and Oncology, Shaare Zedek Medical Center, Jerusalem

Sacrospinous ligament fixation is a well-known method for correction of vaginal vault prolapse. The procedure is primarily indicated after hysterectomy and as a prophylactic measure for total uterine prolapse.

8 women with post-hysterectomy vaginal vault prolapse aged 48-72 years, were referred 1-25 years following primary surgery. Sacrospinous ligament fixation was elected to enable simultaneous correction of cystocele and rectocele, and to preserve sexual function. All operations were completed without significant complications.

In 6 of the 8 patients located for long-term interview, 1 reported mild bulging of the introitus, another mild urinary stress incontinence, urgency and frequency and 1 reported frequency only. Sexual function in 4 was without complaints. Defecation in all patients was normal.
We conclude that this operation is safe and effective. We encourage gynecologic surgeons to consult an experienced tutor prior to performing this procedure, as this type of surgery is quite dangerous and many gynecologists are not familiar enough with it.  

Transarterial Oil Chemoembolization for Hepatocellular Carcinoma 

Izhar Levy, Anthony Verstandig, Talia Sasson, Dana Wolf, Ilia Krichon, Eugin Libson, Pinchas Levensart, Orit Papo, Oded Yurim, Ahmed Id, Daniel Shouval

Division of Medicine, Liver Unit and Invasive Radiology, Radiology, Pathology and Surgery Depts., Hadassah University Hospital, Ein Kerem, Jerusalem

Hepatocellular carcinoma (HCC) is a common malignancy with a grave prognosis. Most patients have both the malignant tumor as well as hepatic cirrhosis. Liver transplantation or hepatectomy are considered the only curative procedures, but can be applied in fewer than 10% of patients. In recent decades the most common treatments of HCC are transarterial chemoembolization with oil (TOCE) and percutaneous ethanol injection (PEI). We summarize our retrospective study of 100 patients (mean age 64) 3‏ treated by TE.

In 271 procedures between 1989-1998, in 16 patients hepatectomy was combined with TOCE and in 8 PEI was combined with TOCE, while the rest were treated by TOCE alone. Tumor mass was reduced in 36% of those treated by TOCE (tumor volume reduced 24-75%). Alpha-feto protein (AFP) was reduced 25-90% in 20/32 of those with elevated AFP levels. Median survival for the 100 in the entire group was 19 months (10.9 months in those with conservative treatment). Median survival in the 57 in Okuda stage 1 and the 43 in stages 2 or 3 was 30.1 months and 10.9 months, respectively (p<0.0001). Of the 57 in stage 1, 16 underwent hepatectomy in addition to TOCE and 41 were treated only by TOCE (median survival 15 and 26 months, respectively, p not significant).

Comparing Okuda 1 patients treated by TOCE only with the natural history of the disease and historical controls (Okuda 1 patients treated conservatively in 1984) median survival was 26 and 10 months respectively (p<0.001). The side effects of TOCE were relatively mild. There was 1 fatality (3 days after treatment), and quality of life was maintained. Despite progress in the treatment of HCC by TOCE, PEI, and liver transplantation, long-term survival has remained unsatisfactory.

Cervical Ectopic Pregnancy

Eyal Sheiner, Ilana Yanai, David Yohai, Miriam Katz

Dept. of Obstetrics and Gynecology and Pathology Unit, Soroka Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba

Cervical pregnancy is a rare but serious complication. The most frequent presenting symptom is vaginal bleeding, and is thus common in inevitable abortion. Examination reveals a dilated cervix containing products of conception derived from the emptied uterine cavity. The pathologic criteria are cervical glands opposite the placental site, attachment to and actual invasion of the cervix by the placenta, a portion of the placenta below the posterior reflection, and no fetal parts in the corpus uteri. Treatment ranges from hysterectomy to treatment with chemical agents, mostly methotrexate. We present a case of ectopic, cervical pregnancy with exaggerated placental site in the cervix.

Nutrition for Women's Health

Dorit Nitzan Kaluski, Alex Levental

Dept. of Nutrition, Public Health Services, Ministry of Health, Jerusalem

Biological, environmental and social factors predispose women to cardiovascular diseases, malignancy, osteoporosis, diabetes, obesity and eating disorders. Their prevention requires that health services recognize women as a risk group and provide appropriate financial and professional resources. To develop and apply intervention programs for women, funding must be allocated for data collection, development and assessment of intervention programs and involving women in decision processes. We address the diseases and conditions in which nutrition may contribute to primary or secondary prevention of the specified diseases.

Premature Birth and Cognitive Functioning in Adolescence

Ofra Lubetzky, Avi Weitzman, Izhak Gilat, Samuel Tyano

Levinsky College of Education and Geha Hospital, Tel Aviv and Sackler Faculty of Medicine, Tel Aviv University

Premature infants are considered a high-risk population for developing cognitive dysfunction. Studies have indicated lower cognitive performance among elementary school children born prematurely. We focused on cognitive functioning of such adolescents. This age was chosen because of its critical importance in the development of the individual.

50 adolescents aged 14-16 years born prematurely were compared with 50 born at full-term and matched for gender, age and socioeconomic status. All subjects attended regular schools and did not suffer severe neurological disorders. Cognitive functioning was measured by the Bender-Visual Motor Gestalt Test and by 3 subtests from the Wechsler Intelligence Scale for Children (revised WISC-R test).

Results revealed that prematurely born adolescents scored lower than those born at term on all measures of cognitive performance. The results are discussed in terms of their developmental meaning and of therapy for the prematurely born.

Evaluation of Asthmatic Children Presenting at Emergency Rooms

Haim Bibi, Elena Shoychet, David Shoseyov, Michael Armoni, Emil Chai, Dorit Ater

Pediatric Pulmonary Clinic and Pediatric Dept., Barzilai Medical Center, Ashkelon; Pediatric Pulmonary Clinic, Bikur Cholim Hospital, Jerusalem; Emergency Room, Barzilai Medical Center, Ashkelon; and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba

Bronchial asthma in the pediatric age group has become prevalent recently. Many children who suffer from asthma arrive at the emergency room (ER) with exacerbations which did not respond to medical treatment at home.

Between July and December 1997, 136 children 8 months to 14 years of age (61% below 3 years), were studied in our pediatric ER. Investigation included physical examination and pulse oximetry, which were used as guidelines for scoring the children on arrival and post-treatment. Spirometry was done in those who could cooperate. For each patient a detailed questionnaire about medical and sociodemographic factors was filled.

Primary pediatricians used mainly beta-agonist and corticosteroid inhalators, while pediatric pulmonologists used mainly inhaled steroids. There was no relationship between severity of attack on arrival at the ER, mode of treatment and speed of recovery in the ER. More children treated by a general pediatrician more were admitted to hospital. Low parental education and paternal smoking were risk factors for recurrent hospital admissions.

Our results indicate that parents must be educated to stop smoking, especially those with asthmatic children, and primary pediatricians should be updated with regard to proper treatment and follow-up of asthma.

Listeria Monocytogenes Infections - Ten Years' Experience

Tova Rainis, Israel Potasman

Infectious Disease Unit, Bnai Zion Medical Center, and Faculty of Medicine, Technion, Haifa

7 cases of listeriosis were diagnosed here between 1988-1997 (6 in last 3 years), or 2.94/100,000 admissions. 2 elderly patients suffered from meningitis and 2 pregnant women presented with premature contractions, 1 of whom delivered a premature, infected baby. 2 other patients had fever and gastroenteritis.

Listeria monocytogenes was isolated from blood in 4, CSF in 2 and the placenta in 1. It was isolated from those with bacterial meningitis. All patients recovered. Both increased awareness for prevention and better diagnosis are essential to reduce morbidity from this unusual pathogen.