Israel Medical Association Journal

Background: Janus kinase-2 (JAK2) is mutated in a high proportion of patients with polycythemia vera and in a smaller number with essential thrombocythemia and primary myelofibrosis. Mutated JAK2 is an important diagnostic marker for myeloproliferative neoplasm (MPN) and may also play a major role in the pathogenesis of MPN.

Objectives: To evaluate the prevalence of mutated JAK2 (JAK2-V617F) among patients with major intraabdominal vein thrombosis who had normal blood counts at diagnosis of the initial event.

Methods: The medical records of patients who presented with a major intraabdominal venous thrombosis and normal peripheral blood counts were obtained. JAK2-V617F mutation status was determined by real-time polymerase chain reaction.

Results: Twenty-two patients were available for this analysis and 9 (41%) were found to have JAK2-V617F. Patients with positive JAK2-V617F were younger and had more frequent clinical splenomegaly than those with wild-type JAK2.

Conclusions: A high proportion of patients presenting with “idiopathic” major intraabdominal vein thrombosis and normal blood counts carry JAK2-V617F. We recommend searching for the mutation in this clinical setting to detect patients with occult MPN.

Background: Type 1 diabetes in humans is an autoimmune disease in which T cells target pancreatic islets of Langerhans, leading to the progressive destruction of the insulin-producing beta cells. Both genetic and environmental factors contribute to the development of autoimmune diabetes. The non-obese diabetic (NOD) mouse model of human type 1 diabetes demonstrates two missense mutations in the transient receptor potential vanilloid receptor-1 (TRPV1) gene.

Objectives: To investigate whether polymorphism in the TRPV1 gene may play a role in the predisposition to human type 1 diabetes.

Methods: We genotyped 146 Ashkenazi Jewish type 1 diabetic patients and 205 Ashkenazi Jewish healthy controls for the rs222747 (M315I), rs224534 (T469I) and rs8065080 (I585V) variants of the TRPV1 gene.

Results: There was a significant increase in the rs222747 (M315I) variant of the TRPV1 gene in the type 1 diabetes cohort compared to the control: rs222747 (M315I) homozygous: (61% vs. 48.3%, P = 0.02). Logistic regression analysis revealed that type1 diabetes was significantly associated with rs222747 (M315I), such that having diabetes increased the odds of rs222747 homozygosity (M315I) by 67.2%, odds ratio 1.6, 95% confidence interval 1.08–2.57, P < 0.02. No difference was found in the rs224534 (T469I) and rs8065080 (I585V) allelic variants. There was no difference in any of the TRPV1 variants by gender, age when type1 diabetes was diagnosed, body mass index, glycemic control, blood pressure, positive autoantibodies (ICA, GAD, IAA), and other autoimmune diseases.

Conclusions: Our study demonstrates that TRPV1 may be a susceptible gene for type 1 diabetes in an Ashkenazi Jewish population. These results should be replicated in the same ethnic group and in other ethnic groups.

Objectives: To evaluate the performance of the C. DIFF QUIK CHEK COMPLETE^® assay, designed to simultaneously detect C. difficile-produced glutamate dehydrogenase (GHD) and toxins A and B.

Methods: Using the C. DIFF QUIK CHEK COMPLETE assay, the Tox A/B EIA, and polymerase chain reaction (PCR), we tested 223 stool specimens from hospitalized patients with antibiotics-associated diarrhea. Sensitivity and specificity, and positive and negative predictive values (PPV, NPV) were calculated for the C. DIFF QUIK CHEK COMPLETE test and the Tox A/B EIA against PCR

Results: The C. DIFF QUIK CHEK COMPLETE test had a sensitivity of 83.5% and specificity of 94.3% compared to PCR for Tox A/B, with 93.7% correlation (PPV 98.5%, NPV 91.7%). The Tox A/B EIA yielded corresponding values of 72.1% and 93.1%, with 85.6% correlation (PPV 85.1%, NPV 85.8%).

Conclusions: Given the importance of an early and appropriate diagnosis of Clostridium difficile-associated infection, the C. DIFF QUIK CHEK COMPLETE test may be of huge benefit to practitioners.

Objectives: To investigate whether young patients, i.e., under age 50, complain of symptoms for longer than older patients until the diagnosis of colon cancer is established.

Methods: In this retrospective cohort study, patients were divided into two groups: < 50 years old (group 1) and ≥ 50 (group 2). All had undergone surgery for left or right colon cancer during the 1 year period January 2000 through December 2009 at one medical center. Rectal and sigmoid cancers were excluded. Data collected included age, gender, quantity and quality of complaints, duration of complaints, in-hospital versus community diagnosis, pathological staging, the side of colon involved, and overall mortality. The main aim was the quality and duration of complaints. Secondary outcomes were the pathological stage at presentation and the mortality rate.

Results: The study group comprised 236 patients: 31 (13.1%) were < 50 years old and 205 (86.9%) were ≥ 50 years. No significant difference was found in the quantity and quality of complaints between the two groups. Patients in group 1 (< 50 years) complained for a longer period, 5.3 vs. 2.4 months (P = 0.002). More younger patients were diagnosed with stage IV disease (38.7% vs. 21.5%, P = 0.035) and fewer had stage I disease (3.2% vs. 15.6%, P = 0.06); the mortality rates were similar (41.9% vs. 39%). Applying a stepwise logistic regression model, the duration of complaints was found to be an independent predictor of mortality (P = 0.03, OR 1.6, 95% CI 1–3.6), independently of age (P = 0.003) and stage (P < 0.001).

Conclusions: Younger patients are more often diagnosed with colon cancer later, at a more advanced stage. Alertness to patients’ complaints, together with evaluation regardless of age but according to symptoms and clinical presentation are crucial. Large-scale population-based studies are needed to confirm this trend. 

Objectives: To present the feasibility and safety of DSMR in Israel.

Methods: Thirty patients with suspected or known CAD were studied. DSMR images were acquired during short breath-holds in three short axis views and four-, two-, and three-chamber views. Patients were examined at rest and during a standard dobutamine-atropine protocol. Regional wall motion was assessed in a 16-segment model and the image quality was evaluated using a four-point scale for the visibility of the endocardial border.

Results: In 28 patients (93.4%) DSMR was successfully performed and completed within an average of 55 ± 6 minutes. One patient could not be examined because of claustrophobia and another patient, who was on beta-blockers, did not reach the target heart rate. Image quality was excellent and there was no difference between the rest and stress images in short axis (3.91 ± 0.29 vs. 3.88 ± 0.34, P = 0.13, respectively) and long axis (3.83 ± 0.38 vs. 3.70 ± 0.49, P = 0.09, respectively) views. Segmental intra-observer agreement for wall motion contractility at rest and stress cine images was almost perfect (κ = 0.88, 95% confidence interval = 0.93–0.84, and κ = 0.82, 95% CI = 0.88–0.76) respectively. No serious side effects were observed during DSMR.

Conclusion: The present study confirms the feasibility, safety and excellent image quality of DSMR for the diagnosis of coronary artery diseases.

Objectives: To determine the profile of unsaturated fatty acids in the breast milk of two populations in southern Israel, Jewish and rural tent-dwelling Bedouin women.

Methods: This study involved 48 lactating Israeli mothers, 29 Jewish and 19 Bedouin (16–20 weeks postpartum), whose full-term infants were fed exclusively with breast milk. Total milk lipid extracts were transmethylated and analyzed by using an improved gas chromatographic method.

Results: The breast milk of the Bedouin women contained significantly higher levels of total major saturated fatty acids, lauric acid and palmitic acid (45.2 ± 4.7% vs. 41.0 ± 5.6%, P = 0.005; 5.2 ± 2.1 vs. 6.8 ± 2.0%, P = 0.03; and 22.7 ± 2.4 vs. 20.6 ± 3.8%, P = 0.02) respectively. No difference was found in the myristic acid level between the groups. The level of stearic acid was significantly higher in the Jewish group compared to the Bedouin group (5.7 ± 1.1 vs. 5.1 ± 1.1%, P = 0.04). There was a linear correlation between the levels of C14:0 and C12:0 in the Bedouin and Jewish groups respectively (R = 0.87, R = 0.82, P < 0.001).

Conclusions: Higher levels of saturated fatty acids were measured in the breast milk of Bedouin women, an economically weaker population. The results emphasize the importance of diet among lactating women and its influence on milk quality. 

Objectives: To investigate these injuries with respect to type, incidence and modes of prevention.

Methods: A retrospective study of medical records was performed for all patients admitted to Assaf Harofeh Medical Center due to horse-related injury between January 1984 and December 2008. A telephone questionnaire was used to complete the data.

Results: Eighty-nine subjects (267 injuries) were included in the study. Most of them were not professional horse riders or horse handlers. Helmet use was reported in only 28% of the participants. The number of subjects with horse-related injuries and the percentage of pediatric involvement increased during the study period. Falling from a horse was the most frequent cause of injury (60.67%), followed by being kicked (13.4%). Head and extremities were the most affected areas. On admission, 33.7% had a potential severe injury score. Forty-two participants (47%) had underlying fractures, mostly in the upper extremities. In the pediatric population, 16.2% (vs. 0% adults) rode horses for therapeutic reasons. Seventeen subjects reported having long-term consequences.

Conclusions: The findings are similar to those described in other parts of the world. Horseback riding-related injuries are increasing, which emphasizes the need for safety education programs in Israel.

 Background: Hemorrhagic radiation cystitis (HRC) is a significant clinical problem that occurs after pelvic radiation therapy and is often refractory.

Objectives: To evaluate the efficacy and safety of hyperbaric oxygen therapy (HBO) for HRC.

Methods: Daily 90 minute sessions of HBO at 2 ATM 100% oxygen were given to 32 HRC patients with American Society of Therapeutic Radiology and Oncology (ASTRO) grades 3-4 hematuria.

Results: The median age was 72.5 (48–88 years). The median time interval between radiation therapy and HBO was 4 years (1–26 years). The patients received a median of 30 HBO sessions (3–53). Hematuria resolved in 27 patients (84%) and persisted in 5. Cystectomy was required in two, and ileal-conduit and bilateral percutaneous nephrostomies were performed in one and two patients, respectively. With a median follow-up of 12 months (5–74 months), the hematuria cleared completely in 16 patients (59%) and mild hematuria requiring no further treatment recurred in 10 others. Another patient with ASTRO grade 4 hematuria needed bladder irrigation and blood transfusions. Complications included eardrum perforation in four patients and transient vertigo and mild hemoptysis in one case each. None of them required HBO discontinuation.

Conclusions: HBO controlled bleeding in 84% of the patients. A durable freedom from significant hematuria was achieved in 96% of the patients. HBO seems to be an effective and safe modality in patients with HRC.

Background: Carbon dioxide is the most widely used gas to establish pneumoperitoneum during laparoscopic surgery. Gastrointestinal trauma may occur during the peritoneal insufflation or during the operative phase itself. Early diagnosis of these injuries is critical.

Objectives: To assess changes in end-tidal carbon dioxide (E_TCO₂) following gastric perforation during pneumoperitoneum in the rat.

Methods: Wistar rats were anesthetized, tracheotomized and mechanically ventilated with fixed minute volume. Each animal underwent a 1 cm abdominal longitudinal incision. A 0.3 x 0.3 cm cross-incision of the stomach was performed in the perforation group but not in the controls (n=10/group), and the abdomen was closed in both groups. After stabilization, CO₂-induced pneumoperitoneum was established at 0, 5, 8 and 12 mmHg for 20 min periods consecutively, each followed by complete pressure relief for 5 minutes.

Results: Ventilatory pressure increased in both groups when pneumoperitoneal pressure ≥ 5 mmHg was applied, but more so in the perforated stomach group (P = 0.003). E_TCO₂ increased in both groups during the experiment, but less so in the perforated group (P = 0.04). It then returned to near baseline values during pressure annulation in all perforated animals but only in the 0 and 5 mmHg periods in the controls.

Conclusions: When subjected to pneumoperitoneum, E_TCO₂ was lower in rats with a perforated stomach than in those with an intact stomach. An abrupt decrease in E_TCO₂ during laparoscopy may signal gastric perforation.
 

Background: The management of sexual assault victims comprises complex medical, psychological, social and judicial care that was previously provided by various disciplines at several distant locations. This novel concept is the delivery of comprehensive care to victims of sexual assault at one location 24 hours a day.

Objectives: To describe the characteristics of sexual assault victims, their assailants, the assault and the treatment, and provide descriptive data on the evidentiary examination.

Methods: We performed a retrospective analysis of the charts of all sexual assault victims presenting to the Regional Israeli Center for Care of Sexual Assault Victims between October 2000 and July 2010. The center, the first in Israel, provides comprehensive care to victims of sexual assault in one location 24 hours a day using a multidisciplinary approach.

Results: The study group comprised 1992 subjects; 91.5% of the victims were females and 8.5% were males, and the age ranged from 1 to 88 years (mean age 22.3 years). Of the 1992 victims, 1635 were single (82.2%), 195 were divorced (9.8%), 141 were married (7.1%), 18 were widowed (0.9%) and 3 were unspecified. The assailant was a stranger in 794 (39.8%) of the cases, someone familiar to the victim in 786 cases (39.0%), a partner in 127 cases (6.4%), a family member in 117 cases (5.9%), someone met via the internet in 53 cases (2.7%), an authority figure in 39 cases (2.0%), and unspecified in 76 (3.9%). In the majority of cases the attack occurred either in the evening or at night (71.7%).

Conclusions: We identified several risk factors for sexual assault that can be used in prevention programs. The sexual assault victim in our study tended to be a young, single woman who was attacked by a familiar assailant in the evening or at night. Our center provides comprehensive care to victims 24 hours a day at one location and includes a team of forensic, psychological, physical and legal specialists.