• IMA sites
  • IMAJ services
  • IMA journals
  • Follow us
  • Alternate Text Alternate Text
עמוד בית
Tue, 25.06.24

Search results


May 2024
Elena Korytnikova MD, Maayan Elnir Katz MD, Itzhak Gabizon MD, Tamar Eshkoli MD

Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism and manifests as a multisystem disease. Most patients present with oropharyngeal malformations, cardiomyopathies, elevated liver enzymes, and hypoglycemia. Treatment with D-galactose has been shown to improve symptoms. Our patient presented with PGM1 deficiency. She conceived spontaneously. Throughout her pregnancies, our patient was monitored by a multidisciplinary team of cardiologists, endocrinologists, and physicians with experience in high-risk pregnancy. She delivered twice by cesarean section. Our case highlights the importance of a multidisciplinary approach and individualized management of prenatal and postpartum care of a patient with a PGM1 deficiency. To the best of our knowledge, there have been no reports about a PGM1-deficient patient who conceived and delivered.

October 2023
George Shallufi MD, Suhair Hanna MD, Asaad Khoury MD, Tarek Saadi MD, Anat Ilivitzki MD, Michal Gur MD, Lea Bentur MD, Ronen Bar-Yoseph MD

Common variable immunodeficiency (CVID) is a heterogeneous primary immune deficiency disorder characterized mainly by defective B lymphocyte differentiation, leading to hypogammaglobinemia and defective antibody production. It is often combined with cellular immune defects. A minority of patients present during childhood and adolescence. Infections are most often sinopulmonary but can affect any system. The noninfectious complications include progressive lung disease, autoimmunity, gastrointestinal inflammatory disease, liver disease, granulomatous disease, lymphoid hyperplasia and infiltrative disease, and the development of lymphoma and other cancers. In addition to recurrent infections and bronchiectasis, patients may develop chronic interstitial lung disease, granulomatous lung disease, lymphoma, and pulmonary hypertension.

June 2023
Yotam Bronstein MD, Dana Elhadad MD, Eyas Midlij MD, Moshe Yana MD, Daniel Yakubovich MD, Nechama Sharon MD

Background: Factor VII (FVII) deficiency is characterized by normal activated partial thromboplastin time (aPTT) and prolonged prothrombin time (PT) values. It is diagnosed by determining protein level and coagulation activity (FVII:C). FVII:C measurements are expensive and time consuming.

Objectives: To analyze correlations between PT, international normalized ratio (INR), and FVII:C in pediatric patients before otolaryngology surgery and to establish alternative methods for identifying FVII deficiency.

Methods: FVII:C data were collected from 96 patients with normal aPTT and prolonged PT values during preoperative otolaryngology surgery coagulation workup between 2016 and 2020. We compared demographic and clinical parameters using Spearman correlation coefficient and receiver operating characteristic (ROC) curve analysis to determine the accuracy of PT and INR values to predict FVII deficiency.

Results: The median values of PT, INR and FVII:C were 13.5 seconds, 1.14, and 67.5%, respectively. In total, 65 participants (67.7%) displayed normal FVII:C compared to 31 (32.3%) with decreased FVII:C. A statistically significant negative correlation was observed between FVII:C and PT values and between FVII:C and INR. Despite statistically significant ROC of 0.653 for PT (P-value = 0.017, 95% confidence interval [95%CI] 0.529–0.776) and 0.669 for INR (P-value = 0.08, 95%CI 0.551–0.788), we were unable to determine an optimal cutoff point to predict FVII:C deficiency with high sensitivity and high specificity.

Conclusions: We could not identify a PT or INR threshold to best predict clinically relevant FVII:C levels. When PT is abnormal, determining FVII:C protein levels is needed for diagnosing FVII deficiency and considering surgical prophylactic treatment.

February 2023
Elchanan Parnasa MD, Ofer Perzon MD, Aviad Klinger, Tehila Ezkoria MA, Matan Fischer MD

Background: The coronavirus disease 2019 (COVID-19) pandemic has severe consequences in terms of mortality and morbidity. Knowledge of factors that impact COVID-19 may be useful in the search for treatments.

Objectives: To determine the effect of glucose-6-phosphate dehydrogenase (G6PD) deficiency on morbidly and mortality associated with COVID-19.

Methods: All patients admitted to Hadassah Hebrew University Medical Center between 01 March 2020 and 03 May 2021 with a diagnosis of COVID-19 were included. We retrospectively retrieved demographic, clinical, and laboratory data from the hospital’s electronic medical records. The main outcomes were mortality, intensive care unit (ICU) admission, and severity of COVID-19.

Results: The presence of G6PD deficiency emerged as an independent protective predictor for ICU admission (odds ratio [OR] 0.258, 95% confidence interval [95%CI] 0.077–0.619, P = 0.003) and the development of critical illness (OR 0.121, 95%CI 0.005–0.545, P = 0.006). Moreover, patients with G6PD deficiency had a trend toward lower mortality rates that did not reach statistical significance (OR 0.541, 95%CI 0.225–1.088, P = 0.10).

Conclusions: Patients with G6PD deficiency were less likely to have a severe disease, had lower rates of ICU admission, and trended toward lower mortality rates.

Nizar Horrany MD, Wadie Abu Dahoud MD, Yara Moallem MD, Taleb Hajouj MD, Merna Zreik MD, Arnon Blum MD

Background: Type 2 diabetes mellitus (T2DM) is a known risk factor for cardiovascular disease and stroke. Metformin is an old, relatively safe, first line therapy for T2DM; however, it has been associated with stroke.

Objectives: To study the effects of metformin use and vitamin B12 deficiency on stroke rate among patients with T2DM.

Methods: We conducted a prospective study of patients admitted with ischemic stroke within 12 months (starting March 2020). We studied the clinical impact of metformin on vitamin B12 deficiency and stroke evolution. Student's t-test and ANOVA were used to compare the groups of patients and to determine whether there was any direct or indirect effect of metformin use on vitamin B12 deficiency and stroke.

Results: In total, 80 patients were admitted with ischemic stroke. Clinical status and biochemical data were collected and compared with healthy volunteers. There were 39 diabetic patients, 16 took metformin for at least 1 year. Among those who took metformin for at least 1 year, 9 had vitamin B12 level < 240 pg/ml (56.2%); 23 diabetic patients did not get metformin and only 4 had vitamin B12 level < 240 pg/ml (17.4%) (P = 0.014).

Conclusions: T2DM is a significant risk factor to the development of ischemic stroke. We found an association between metformin use and vitamin B12 deficiency and an association between vitamin B12 deficiency and stroke risk in patients with T2DM. Diabetic patients who are taking metformin should monitor their vitamin B12 level.

December 2022
Asaf Miller MD, Danny Epstein MD, Hanna Amouri MD

A 49-year-old woman presented to the emergency department with a 3-day history of altered mental status. The patient’s medical history was unremarkable, and she did not take medications.

August 2022
Anton Bermont MD, Daniel L Cohen MD, Vered Richter MD, Efrat Broide MD, and Haim Shirin MD

Background: One of the main causes of iron deficiency anemia (IDA) is chronic gastrointestinal blood loss. The use of video capsule endoscopy (VCE) after negative bidirectional endoscopy in patients with IDA is controversial.

Objectives: To evaluate the effect of VCE in the management and long-term outcomes of IDA patients.

Methods: A retrospective case-control study was performed on all patients with IDA undergoing VCE over a 5-year period. We compared those with positive findings on VCE to those with normal findings. All participants previously underwent a negative bidirectional endoscopy

Results: We performed 199 VCE examinations; median follow-up time was 4 years (IQR 2–5). Positive findings were identified in 66 patients (diagnostic yield 33.2%). Double balloon enteroscopy or push enteroscopy was performed in eight patients (18.6%); only one was therapeutic. The main therapy in both groups was iron supplementation. There were no significant differences in iron treatment before and after VCE in each group and between groups. Anemia improved in both groups. There was no difference in the level of hemoglobin change between the groups during each year of follow-up compared to the baseline level prior to VCE. Anemia resolved in 15 patients (35%) in the positive VCE group and in 19 (45%) in the negative VCE group (P = 0.33).

Conclusions: Positive findings on VCE led to subsequent endoscopic interventions only in a small percentage of patients with IDA. Anemia improved and resolved equally whether or not there were VCE findings. The main intervention that appears to help IDA is iron supplementation.

April 2022
Amos Gelbard

Zinc is a trace element, which is abundant in nature. It is also an essential and important micronutrient found in many foods. It has a role in multiple bodily processes including wound healing and boosting of the immune system. This review shows evidence of zinc deficiency in cancer patients of all types, a deficiency that correlates with disease severity and negatively correlates with survival rates. Lower zinc levels led to more severe and advanced disease symptoms and to lower survival rates. Zinc is a nanoparticle and acts as a photosensitizer in photodynamic therapy in various combinations with other substances. It also shows incredible cytotxicity and tumor suppressive ability in studies conducted both in vitro and in vivo as well as in studies conducted in humans. This result is shown in all types of cancer tested. Zinc shows incredible toxicity toward cancer cells without showing any side effects toward healthy cells. It is recommended that zinc be added to cancer treatment regimens to alleviate zinc deficiency in cancer patients and perhaps to treat cancer as a whole

October 2021
Joseph Gardyn MD, Noa Chapal PhD, and Sharon Floru MD PhD

Background: Iron deficiency anemia is a widespread problem. Although oral and intravenous therapy are available, iron malabsorption is a distinct possibility.

Objectives: To evaluate the applicability of the oral iron absorption test (OIAT) as a simple and effective means of determining the degree of oral iron absorption.

Methods: The study comprised 81 patients diagnosed with iron deficiency anemia who were referred to a hematology outpatient clinic. Participants were given two ferrous sulphate tablets. Iron levels in the blood were evaluated at intervals from 30 to 180 minutes after iron administration.

Results: We divided patients into three distinct groups. The first group consisted of patients with little iron absorption with a maximum iron increment (Cmax) in the blood of 0–49 ug/dl. The second group had a moderate maximum absorption of 50–100 ug/dl, while a third group had considerable absorption of with maximum iron increase of over 100 ug/dl.

Conclusions: The oral iron absorption test, although not clearly standardized, is easy to conduct in any outpatient clinic. This test can readily and clearly determine absorption or nonabsorption of iron. This test can have major implications on the need of oral or intravenous iron therapy and can also determine the need for further gastrointestinal evaluation of the small intestine, where iron absorption takes place and the success of therapy on subsequent iron absorption

July 2021
Miri Dotan MD, Elena Zion MD, Haim Ben-Zvi PhD, Havatzelet Yarden-Bilavsky MD, and Efraim Bilavsky MD

Background: Adenovirus infections are prevalent in children. They usually cause a mild self-limited disease. However, this infection can be associated with considerable morbidity and mortality in specific populations, especially among immunocompromised children. Children with Down syndrome are susceptible to a higher frequency and increased severity of viral infections. Little is known about the severity and clinical course of adenovirus infections in children with Down syndrome.

Objectives: To characterize hospitalized children diagnosed with Down syndrome and presenting with adenovirus infection.

Methods: We performed a retrospective review of children admitted with adenovirus from January 2005 to August 2014 from a single tertiary pediatric medical center in Israel. Data were compared between patients with and without Down syndrome.

Results: Among the 486 hospitalized children with adenoviral infection, 11 (2.28%) were diagnosed with Down syndrome. We found that children with Down syndrome were more likely to experience a higher incidence of complications (18.2% vs. 2.4%, P = 0.008), a higher rate of admissions to the intensive care unit (36.4% vs. 2.4%, P < 0.001), and more prolonged hospitalizations (17 ± 15.9 days compared to 4.46 ± 3.16, P = 0.025).

Conclusions: Children with Down syndrome who were hospitalized with adenovirus infection represent a high-risk group and warrant close monitoring. If a vaccine for adenovirus becomes available, children with Down syndrome should be considered as candidates

March 2021
Ariel Kenig MD, Ofer Perzon MD, Yuval Tal MD PhD, Sigal Sviri MD, Avi Abutbul MD, Marc Romain MD, Efrat Orenbuch-Harroch MD, Naama Elefant MD, and Aviv Talmon MD
November 2020
Eias Kassem MD, Sigal Eilat-Adar PhD, Mahmood Sindiani Med, and Sigal Ben-Zaken PhD

Background: Vitamin D is essential for skeletal health. Because peak bone mass accrual occurs during childhood and adolescence, vitamin D insufficiency during this period of life could cause adverse health outcomes.

Objectives: To explore the potential sex differences in anthropometric indicators and vitamin D status among primary school-age children.

Methods: A modified food-frequency intake questionnaire was completed by 116 pre-pubertal children (52 girls, 64 boys). Body measurements were recorded and blood was drawn to assess vitamin D status. All children were of Arab-Israeli origin and lived in villages or rural areas in the north-east area of Israel.

Results: Prevalence of obesity was higher among girls (34%) compared to boys (21.9%, P = 0.018). All the children were vitamin D insufficient, and 80% were deficient. Plasma vitamin D was significantly higher among boys (12.4 ng/ml) compared to girls (9.1 ng/ml, P < 0.01). A significant negative correlation was found between vitamin D status and weight percentile for girls (r = -0.43, P < 0.05) but not for boys. There was a trend toward a statistically significant inverse correlation between vitamin D status and body fat percent in the girls (r = -0.37, P = 0.07). Sex frameworks are important for the understanding of the determinants of health and the development of effective health promotion programs.

Conclusions: Pre-pubertal girls in Arab villages should be provided with tailor-made nutrition and physical activity programs for promoting health.

May 2019
Shahar Blechman MD, Yariv Fruchtman MD, Zvi H. Perry MD PhD, Julia Mazar PhD, Miriam Ben Harosh MD, Abuquidar Abed MD, Nurit Rozenberg PhD, Gila Kenet MD and Eugene Leibovitz MD

Background: Congenital factor VII deficiency is a rare recessive autosomal bleeding disorder with a wide spectrum of clinical manifestations.

Objectives: To compare the clinical and laboratory findings in Jewish and Bedouin patients with factor VII deficiency.

Methods: The clinical and laboratory findings of patients with factor VII deficiency treated at Soroka Medical Center, a tertiary hospital in Israel, from 2005 to 2015 were analyzed regarding blood factor levels, illness severity, treatment administration, and disease outcome.

Results: Seventy-eight patients were enrolled (1:13,000 of the population in southern Israel) of whom 26 were diagnosed with severe factor VII deficiency (1:40,000). Sixty (76.9%) patients were Jewish and 18 (23.1%) were Bedouin. In univariable analysis, Bedouin patients exhibited a more severe illness, with significantly higher complication and fatality rates, and required more preventive treatment than the Jewish patients.

Conclusions: The prevalence of congenital factor VII deficiency (including severe deficiency) in the Jewish and Bedouin populations of southern Israel is higher than previously reported. The clinical spectrum of the disease was found to be more severe in the Bedouin population.

March 2019
Efrat Ben-Nun Yaari BSc, Rivka Kauli MD, Pearl Lilos MA and Zvi Laron MD PhD

Background: Treatment of patients with childhood growth hormone deficiency is usually terminated at the end of puberty. Follow-up into adult age is rare, even more so in patients with congenital isolated growth hormone deficiency (cIGHD).

Objectives: To assess the clinical and social characteristics of adults with cIGHD who received growth hormone (hGH) treatment in childhood.

Methods: Thirty-nine patients (23 men, 16 women) diagnosed in our clinic with cIGHD at 7 ± 4.2 years, and treated with hGH during childhood for 2–18 years, were followed into adulthood (mean age 30.7 ± 13.3 years). Ascertained detailed data were found for 32 patients.

Results: Mean ± SD height for males was 160.2 ± 10.6 cm and for females 146.4 ± 5.4 cm. All patients achieved full sexual development and 14 were married. After cessation of GH treatment and with advanced age all exhibited a progressive increase in adiposity to the degree of obesity. Twelve patients suffered from hyperlipidemia, 4 developed diabetes mellitus, and 5 have cardiovascular diseases. One patient died in an accident. None developed cancer. Of the 39 patients, 22 have an education level of high school or higher, and 2 are in special institutions. Most are employed in manual labor.

Conclusions: Patients with congenital IGHD who do not receive early and regular replacement treatment are prone to lag in achieving normal height and suffer from educational and vocational handicaps.

Legal Disclaimer: The information contained in this website is provided for informational purposes only, and should not be construed as legal or medical advice on any matter.
The IMA is not responsible for and expressly disclaims liability for damages of any kind arising from the use of or reliance on information contained within the site.
© All rights to information on this site are reserved and are the property of the Israeli Medical Association. Privacy policy

2 Twin Towers, 35 Jabotinsky, POB 4292, Ramat Gan 5251108 Israel