תוצאת חיפוש

A Molecular Method of Diagnosis of Congenital Adrenal Hyperplasia

Shoshana Israel, Chaim Brautbar

Tissue Typing Unit, Hadassah Medical Center, Jerusalem

Congenital adrenal hyperplasia (CAH) is caused mainly by deficiency of the 21-hydroxylase enzyme. The disease may appear in the classical salt-losing, simple virilizing forms or as a mild, nonclassical form. 21-hydroxylase is encoded by the CYP21B gene on the short arm of chromosome 6, in the midst of the human leukocyte antigen (HLA) complex, between HLA Class I and Class II regions.

We describe a method for identifying mutations in the CYP21B gene. It is based on amplification of the gene using the polymerase chain reaction and identification of mutations with sequence-specific oligo-probes. The mutations identified were: V281 and P30L responsible for nonclassical CAH, and I2 splice, Q318X, I172N, cluster E6, and a deletion including 8bP in the third exon (8bP del) responsible for the classical form of CAH.

We also analyzed 2 families affected with the classical form of CAH which demonstrate possible complications in genotyping. Typing for HLA haplotypes can be helpful in certain cases, as demonstrated in 1 of the families presented. In this case it was necessary to distinguish between 2 possible genotypes: 1 with the mutations in tandem on 1 chromosome and the other with the mutated genes on both chromosomes. HLA haplotyping enabled the assignment of the mutations to the relevant chromosomes and thus allowed correct genetic counseling.

The other family demonstrated the importance of CYP21B genotyping in individuals with the nonclassical form of CAH. This form may consist of 1 mild and 1 severe mutation, representing a serious potential for transmitting the classical form of CAH.

Prematurity: Interplay between Psychological and Biological Risk Factors Leading to Infant Psychopathology

Miri Keren, Galia Tyano, Leah Sirota

Community-based Infant Mental Health Unit, Geha Hospital; Sackler School of Medicine, Tel Aviv University; Kibbutz Seminar, Ramat Aviv; Neonatal Intensive Care Nursery, Schneider Children's Hospital, Petah Tikva; and Sackler School of Medicine, Tel Aviv University

Concepts such as risk factor, vulnerability, protective factor and resiliency have become central in the field of developmental psychopathology. The birth of a very-low-birth weight premature baby can be used as a paradigm of the interplay between these factors. Indeed, prematurity implies for both infant and parents, biological as well as psychological risk factors. They may interact in such a way that the child's emotional, cognitive and social development will deviate from normal. Understanding the psychological impact of premature birth includes reference to both the normal psychological processes that characterize pregnancy that are jeopardized by a premature, often traumatic delivery, and to the special significance of being a parent in the Special Care Nursery.

The contrast between the expected appearance of the baby and that of the sick-looking, tiny premature, together with uncertainty about its medical status, often affect the parents' bonding process. In addition, must learn quickly to cope with issues such as total dependence on a verybusy team, loss of control of the care of their baby, and their unclear roles as parents. Added to these risk factors are the specific neurobehavioral characteristics of premature babies, which often make it hard for parents to read their cues and respond to them properly.

A clinical vignette illustrates the chain of psychological and biological events that lead to severe disturbance of the early parent-child relationship. It also brings up the question of psychosocial intervention in the Special Care Nursery, both in terms of early detection of families at risk and the types of intervention.

Assisted Reproductive Technologies Reported in Israel National Registry, 1995 and 1996

V. Insler, O. Gonnen, D. Levran, Y. Lotan, B. Fish, G. Potashnik, A. Kogosovsky, R. Ron-El

Committee of the Israel National Registry Assisted Reproductive Technologies*

National registration of the results of assisted reproductive technology (ART) is maintained by many countries. The Israel Committee for Registry of ART asked 19 in-vitro fertilization (IVF) units in 1995 and 20 in 1996 to report on their activities and results.

Data were collected by questionnaires and analyzed by computer. The most common ovarian stimulation was the combination of GnRH agonist and gonadotropins. There were 10,89 treatment cycles in 1995, of which 45% were with intracytoplasmic sperm injection (ICSI). In 1996, of 12,72 cycles, 54% were with the ICSI procedure. Embryos were transferred into the uterine cavity in 90% of the conventional IVF cycles and in 95% of the ICSI cycles. The overall pregnancy rate was 22% per embryo transfer in the conventional IVF and ICSI cycles. The delivery rate was 13.7% and 15.4% per embryo transfer in the conventional IVF and ICSI cycles, respectively. The rates for abortion and tubal pregnancy were 24% and 1.3%, respectively.

These results are better than in previous years and are comparable with results in some western European countries. Efforts are being made to convert the registry into a real-time computerized system.

Committee of the Israel National Registry of ART.

Folic Acid for Preventing Neural Tube Defects

Ziv Gil, Adi Aran, Orna Friedman, Liana Beni-Adani, Shlomo Constantini

Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba; Division of Pediatric Neurosurgery, Dana Children's Hospital, Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv

Spina bifida and anencephaly are the most common, serious malformations in neural tube defects (NTD). Randomized trials in the last 2 decades have demonstrated that folic acid, 0.4 mg/d, reduces the incidence of NTD by more than 50%. We investigated the use of folic acid and multivitamins containing folic acid in childbearing women.

Of 221 women interviewed, 67 (30%) regularly took pills containing 0.4 mg folic acid. Women with higher educational levels were more likely to take multivitamins with folic acid than were the less educated (p=0.05). Of the women who took folic acid, only 5 (7.5%) used separate folic acid tablets, before and during their pregnancy. The rest used multivitamins containing folic acid. The 5 women who took folic acid separately were college-educated and nonreligious, and they took multivitamins in addition (p>0.05).

Of the women interviewed, 58 (26.2%) were Bedouin of the Negev. 24 (41.4%) of them took pills containing folic acid on a regular basis. This percentage is higher than that in the Jewish women in the study who took folic acid for prevention of NTD (17%; p=0.038).

Most of the women took folic acid after the first trimester. Only a minority took daily periconceptional folic acid. Multivitamins containing 0.4 mg of folic acid were more popular than folic acid tablets alone. This study emphasizes the need for continuing efforts to increase consumption of folic acid and awareness of its benefits among women of childbearing age.

Atrophic Gastritis Presenting with Pulmonary Embolism

Muhammad A. Abdul-Ghani, Rima Feldman, Moshe Shai, Jacob Varkel

Dept. of Medicine C, Western Galilee Hospital, Naharia

Atrophic gastritis is an autoimmune gastropathy in which there is destruction of gastric parietal cells. This results in intrinsic factor deficiency and disturbance in vitamin B12 absorption. Its clinical manifestationa are therefore the consequences of B12 deficiency and include anemia and neurological defect. In addition, lack of B12 results in metabolic changes, including disturbances of methionine metabolism and accumulation of homocysteine.

In recent years, there has been increasing evidence suggesting that hyperhomocysteinemia is a risk factor for thrombo-embolic disease. We describe a 51-year-old man with atrophic gastritis, severe B12 deficiency and hyperhomocystein-emia. The initial clinical manifestation was pulmonary embolism, without either anemia or neurological signs. B12 deficiency should therefore be considered in patients being investigated for hypercoagulability.

Pneumomediastinum Following Drug Abuse

Z.G. Fridlender, A. Bloch

Medical Division, Hadassah Hospital, Ein Kerem, Jerusalem

Pneumomediastinum is termed spontaneous when not associated with trauma or other identifiable pathological process. There are several reports of pneumomediastinum following narcotic drug inhalation or smoking while applying positive pressure. We describe a 37-year-old male drug addict, hospitalized after having being found unconscious with shortness of breath. CT scan demonstrated bilateral pneumonia with pneumomediastinum. After a day of mechanical ventilation he gradually recovered and the mediastinal air disappeared.

Pneumomediastinum may occur in addicts but usually has no dangerous clinical consequences. If there is respiratory deterioration another cause should be sought.

Histoacryl Vs Dermabond Cyano- Acrylate Glue for Closing Small Operative Wounds

Zvi Steiner, Jorge Mogilner

Dept. of Pediatric Surgery, Bnai-Zion Medical Center and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa

Acrylate glues used in a childrens' day care unit to close small surgical wounds were compared. In 157 children, aged 12 weeks to 3.7 years, either Histoacryl or Dermabond was used (respectively, H: Ethicon Inc., Johnson & Johnson, NJ or D: Dermabond, Braun Surgical Gmbh, Melsungen, Germany). Operations were for inguinal hernia (110 cases), hydrocele (25), undescended testis (16), umbilical hernia (13) and funiculocele (3).

1 week after surgery the wounds were evaluated in terms of integrity of closure, redness or infection, need for antibiotics, wound granuloma, and parental satisfaction with instructions and actual method of wound caring. 3 months after surgery the wound/scar was reexamined.

The margins of the wounds were separated partially or completely in 8 of 85 in group H (9.4%) while in the D group, 2 wounds (2.4%) had partially opened (p<0.05). There were no differences between the glues with regard to wound infection or cosmetic results. Parental satisfaction was higher with D (96%) than H (82%) but the difference was not statistically significant.

It is convenient to use glue to close operative wounds in children after ambulatory surgery. The use of D significantly reduced wound ruptures compared to H. Long-term cosmetic results were similar.

Advantages of Standardized Protocol for Oral Rehydration in Acute Pediatric Gastroenteritis

Avi Weizman, Ahmed Alsheikh, Laura Herzog, Asher Tal, Rafael Gorodischer

Pediatric Depts. A and B, Soroka Medical Center; and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba

Oral rehydration (OR) for acute gastroenteritis in infants and children has been shown to be as effective as IV therapy, with less discomfort and lower costs. In this retrospective study we compared 2 pediatric wards, in 1 of which only a standardized, simplified, bedside protocol, based on American Academy of Pediatrics guidelines, was used.

There were no significant clinical characteristics in the 208 patients. In the ward which used the above protocol, OR utilization was significantly more frequent than in the other ward (48% versus 15%), thus saving equipment costs of nearly $1,000/3 months. There were no significant differences in outcome between the wards.

We conclude that introducing a standardized management protocol may increase OR utilization in hospitalized children with acute diarrhea.
 

Pulmonary Adenocarcinoma in Myasthenia Gravis - Auto-Immunity and Late Development of Malignancy

Yitzhak Rosen, Yair Levy, Yehuda Shoenfeld

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

We report a 75-year-old man with myasthenia gravis for many years, who was hospitalized because of cough, fever, and dyspnea. Chest x-ray revealed a bilateral pleural effusion. Adenocarcinomatous cells were found in the pleural fluid. Computerized tomography of the chest showed widespread pulmonary dissemination of the tumor.

The relationship between myasthenia gravis, an autoimmune disease involving the motor end-plate, and malignancy (thymoma) has been widely recognized. Current literature documents few reports of lung malignancies with concurrent development of myasthenia gravis. A tentative explanation, based on current research, is provided for the possible role of myasthenia gravis and the late development of lung cancer. Moreover, a model for the autoimmune phenomenon and the development of late malignancies will be provided with explicit explanations. It is important to search for occult, developing malignancies in newly diagnosed autoimmune diseases.

Penile Reconstruction after Complete Glans Amputation during Ritual Circumcision

Ofer Z. Shenfeld, Dean Ad-El

Depts. of Urology and of Plastic and Reconstructive Surgery, Hebrew University-Hadassah Medical Center, Jerusalem

Circumcision, so commonly performed, is considered a safe procedure rarely associated with significant complications. A case of complete amputation of the glans penis during neonatal circumcision is reported. The glans was successfully reimplanted, with good post-operative functional and esthetic results.

Burch Laparoscopic Procedure for Repairing Proven Stress Incontinence

Moshe Bustan, Shabtai Romano, Raed Salim, Jacob Rosenman, Eliezer Shalev

Depts. of Obstetric and Gynecology and of Urology, HaEmek Medical Center, Afula

There are more than 200 procedures for repairing stress urinary incontinence. We evaluated the safety and efficiency of the Burch laparoscopic procedure in 32 women with urodynamically proven genuine stress incontinence.

Mean operating time was 40 minutes and mean hospitalization time after the procedure was 30 hours. The cure rate was 97%, similar to that rin other studies (80-95%). The major complications w2 cases (6.2%) of unintended bladder injury, diagnosed and repaired laparoscopically. Although follow-up has only been for 3-42 months, the high cure rate and safety and advantages of laparoscopy over laparotomy, make laparoscopic Burch colposuspension the procedure of choice for repairing stress incontinence.

The Zavanelli Maneuver - Back to the Womb

R. Geist, Y. Yekel, B. Abramov, S. Grisaru, A. Samueloff

Obstetrics and Gynecology Dept., Shaare Zedek Medical Center, Jerusalem

The Zavanelli maneuver is the manual replacement of a partially-born fetus due to severe shoulder dystocia. It is described in obstetrical textbooks as being among the last to be tried in a series of maneuvers to rescue the fetus with severe shoulder dystocia, as it is considered a very difficult and heroic maneuver. Few obstetricians have seen it and fewer have done it themselves. It is even more rare when a single obstetrician has done the Zavanelli maneuver repeatedly. Therefore, both experienced obstetricians and certainly young residents are fearful when they have to use this maneuver and can lose control in cases of shoulder dystocia.

We have found descriptions of 93 cases of use of the Zavanelli maneuver in vertex presentations. We also describe a recent case in our experience. We conclude that this maneuver is safe and not too difficult to perform even without previous experience. Fetal and maternal complications are few, but there is of course a bias against reporting bad results.

We recommend that every obstetrician become familiar with this maneuver so as to feel sure that it is safe for him to use in severe cases of shoulder dystocia.

Regulation of Natural Medicines in Israel and Abroad

T. Lavy, B. Haran, J. Shemer, S. Shani

Israel Ministry of Health, Pharmaceutical Policy and Economics Unit; Israel Center for Technology Assessment in Health Care; Gertner Institute for Epidemiology and Health Policy Research; Sackler Faculty of Medicine, Tel Aviv University

Hand-in-hand with the public's growing interest in health care, there has been an increasing demand for natural health products considered both safe and medically effective. But many such products have not been shown to meet efficacy and safety criteria and therefore can not be registered as pharmaceuticals. On the other hand, it is quite clear that some products do have pharmacological activity and are being used for therapeutic or preventive effects.

In Israel, the marketing rules for food or dietary supplements prevent their manufacturers from claiming medicinal/healing properties that the product might have, and allow only limited health statements. But great demand for these products has created massive publication attributing medicinal indications for products whose quality, efficacy and safety have neither been examined nor proven according to accepted medical criteria.

We review the regulation and supervision of natural health products in Israel and other developed countries and find a broad range of opinions about natural health products. They range from acceptance as conventional drugs reimbursable by the health insurance, as in Switzerland and Germany, to their status as dietary supplements requiring no significant authorization or supervision, as in the USA.

Analysis of the current situation in Israel and the western world would indicate that some natural health products do possess pharmacological activity and therefore manufacturers should be allowed to make limited claims for specified therapeutic properties. A stricter set of registration regulations are needed for proof of safety, efficacy and quality of these products, but more lenient than those for registering a pharmaceutical product.

Laparoscopic Cholecystectomy - 1,000 Procedures in a Surgical Department

Uri Freund, Ami Mayo, Ivan Schwartz, David Neufeld, Haim Paran

Dept. of Surgery A, Meir Hospital, Kfar Saba; and Sackler School of Medicine, Tel Aviv University

The first 1,000 laparoscopic cholecystectomies performed in our department were reviewed. There was no operative mortality; conversion to open cholecystectomy was necessary in 2%. In the last 600 cases the rate of conversion had decreased to 0.5%. There was common bile duct injury in 0.3%, with the injuries identified during primary surgery. This clinical experience is consistent with previous studies, which proved that laparoscopic cholecystectomy is safe and should replace open operation as the procedure of choice. 

Juridical and Halachic Aspects of Postmortem Sperm Procurement

Ya'akov Ariel, Moshe Vermout, Pnina Abramovitz-Shneider, Avinoam Shuper

Institute of Halachic and Ethical Aspects of Medicine, Ramat Gan

The ability to fertilize human ova with sperm retrieved soon after death has been utilized in Israel and in other countries. However, postmortem sperm procurement (PMSP) has significant Halachic, juridical and ethical implications with regard to both the action of sperm and its implications for mother and offspring. In specific situations, and with reliable supervision aimed at preventing sperm interchange, Halacha may allow the procedure, while the juridical approach in such a situation is not as yet well established.

As for Halacha, even if a son is born, the widowed mother will still be obligated by the Halacha of yibum (marrying the deceased husband's brother). The child's rights as heir, aspects of implications for its future life, or even social aspects of PMSP, all are factors to be seriously considered before PMSP is performed, without bias by temporary emotions. Thus, PMSP should be reserved for only very special circumstances, and only after consultation with the appropriate medical, Halachic, juridical and ethical experts.