Eliezer Bronshtein, Ido Solt MD, Moshe Bronshtein MD, Ayala Gover MD, Igal Wolman MD and Zeev Blumenfeld MD
Background: Early prenatal ultrasound is an important part of prenatal screening in Israel. No studies have described the rate of trisomy 21 [T21] identification at 14–17 weeks gestation.
Objectives: To describe the rate of T21 identification by transvaginal sonograms (TVS) at 14–17 weeks gestation.
Methods: We conducted a historical prospective study. Since 1986, early TVS of 72,000 fetuses at 14–17 weeks gestation have been prospectively recorded together with prenatal screening data at a private ultrasound center (AL-KOL, Haifa). We calculated the fraction of T21 cases by dividing the total number of cases with abnormal sonographic findings by the total number of diagnosed T21 cases. We also examined the percentage of verified T21 cases that had completely normal prenatal screening tests prior to the early prenatal TVS, thus revealing the contribution of this examination to the existing prenatal screening. Fisher’s exact test was used to calculate odds ratios for each sonographic marker.
Results: Of 137 T21 fetuses, 123 had sonographic markers on early TVS, yielding a prediction capability of at least 89.87%. Of all T21 cases, 14% had completely normal nuchal translucency/first-trimester screening prior to the abnormal 14–17 week TVS findings. Isolated abnormal sonographic findings, which were found to increase the risk for T21, were common atrioventricular septal canal (odds ratio 88.88), duodenal atresia (OR 88.23), nuchal edema (OR 39.14), and hydrocephalus (OR 15.78). Fetal hydronephrosis/pyelectasis was non-significant when isolated (OR 1), and cardiac echogenic focus was associated with a decreased risk (OR 0.13).
Conclusions: Early prenatal TVS at 14–17 weeks may identify almost 90% of T21 and adds 14% to the identification rate at the first-trimester screening.
Marwan Odeh MD, Moshe Bronshtein MD and Jacob Bornstein MD MPA
Background: The congenital absence of salivary glands has been reported in children but never in fetuses with trisomy 21.
Objectives: To determine whether the congenital absence of salivary glands can be detected prenatally between 13 and 16 weeks of gestation in normal and trisomy 21 fetuses using transvaginal ultrasound.
Methods: We performed a retrospective analysis of recordings of normal and trisomy 21 fetuses. Inclusion criteria were a single viable fetus and good visualization of the anatomic area of the salivary glands on both sides of the fetal face. All videos were reviewed by one examiner who reported the presence or absence of one or more salivary glands and was blinded to the fetal karyotype.
Results: Of the 45 videos reviewed, 4 were excluded from the study: namely, a non-viable fetus, twin pregnancy, and in 2 there was unsatisfactory visualization of the anatomic area of the salivary glands. Of the remaining 41 fetuses, 24 had trisomy 21 and 17 were normal. In the trisomy 21 fetuses, 8 (33.3%) had congenital absence of one or more salivary glands compared to 1 of 17 normal fetuses (5.9%) (P < 0.05).
Conclusions: Congenital absence of the salivary glands has a high specificity but low sensitivity for detecting trisomy 21 fetuses.
Gustavo Goldenberg MD, Tamir Bental MD, Udi Kadmon MD, Ronit Zabarsky MD, Jairo Kusnick MD, Alon Barsheshet MD, Gregory Golovchiner MD and Boris Strasberg MD
Background: Syncope prognosis varies widely: 1 year mortality may range from 0% in the case of vasovagal events up to 30% in the presence of heart disease.
Objectives: To assess the outcomes and prognosis of patients with implantable cardiac defibrillator (ICD) and indication of primary prevention and compare patients presenting with or without prior syncope.
Methods: We reviewed the charts of 75 patients who underwent ICD implantation with the indication of primary prevention and history of syncope and compared them to a control group of 80 patients without prior syncope. We assessed the number of ventricular tachycardia (VT), ventricular fibrillation (VF), shock, anti-tachycardia pacing (ATP), and death in each group during the follow-up.
Results: Mean follow-up was 893 days (810–976, 95% confidence interval) (no difference between groups). Patients with prior syncope had a higher ejection fraction (EF) (35.5 ± 12.6 vs. 31.4 ± 8.76, P = 0.02), more episodes of VT (21.3% vs. 3.8%, P = 0.001) and VF (8% vs. 0%, P = 0.01) and also received more electric shocks (18.7% vs. 3.8%, P = 0.004) and ATP (17.3% vs. 6.2%, P = 0.031). There were no differences in inappropriate shocks (6.7% vs. 5%, P = 0.74), in cardiovascular mortality (cumulative 5 year estimate 29.9% vs. 32.2% P = 0.97) and any death (cumulative 5 year estimate 38.1% vs. 48.9% P = 0.18) during the follow-up.
Conclusions: Syncopal patients before ICD implantation seem to have more episodes of VT/VF and shock or ATP. No mortality differences were observed
Zev Sthoeger MD, Margalit Lorber MD, Yuval Tal MD, Elias Toubi MD, Howard Amital MD, Shaye Kivity MD, Pnina Langevitz MD, Ilan Asher MD, Daniel Elbirt MD and Nancy Agmon Levin MD
Background: Anti-BLyS treatment with the human belimumab monoclonal antibody was shown to be a safe and effective therapeutic modality in lupus patients with active disease (i.e., without significant neurological/renal involvement) despite standard treatment.
Objectives: To evaluate the “real-life” safety and efficacy of belimumab added to standard therapy in patents with active lupus in five Israeli medical centers.
Methods: We conducted a retrospective open-labeled study of 36 lupus patients who received belimumab monthly for at least 1 year in addition to standard treatment. Laboratory tests (C3/C4, anti dsDNA autoantibodies, chemistry, urinalysis and complete blood count) were done every 3–4 months. Adverse events were obtained from patients’ medical records. Efficacy assessment by the treating physicians was defined as excellent, good/partial, or no response.
Results: The study group comprised 36 lupus patients (8 males, 28 females) with a mean age of 41.6 } 12.2 years. Belimumab was given for a mean period of 2.3 } 1.7 years (range 1–7). None of the patients discontinued belimumab due to adverse events. Four patients (11.1%) had an infection related to belimumab. Only 5 patients (13.9%) stopped taking belimumab due to lack of efficacy. The response was excellent in 25 patients (69.5%) and good/partial in the other 6 (16.6%). Concomitantly, serological response (reduction of C3/C4 and anti-dsDNA autoantibodies) was also observed. Moreover, following belimumab treatment, there was a significant reduction in the usage of corticosteroids (from 100% to 27.7%) and immunosuppressive agents (from 83.3% to 8.3%).
Conclusions: Belimumab, in addition to standard therapy, is a safe and effective treatment for active lupus patients.
Tali Stolovy PhD, Muli Linder MD, Patricia Zipris MD, Adiel Doron MD, Yackov Dafna PhD and Yuval Melamed MD MHA
Francesca Cainelli MD,Venera Tastanbekova MD, Dair Nurgaliev MD PhD, Natalya Lim MD and Sandro Vento MD