Israel Medical Association Journal

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 describe and identify clinical characteristics, prognostic factors and visual outcome in a group of patients with OGI in southern Israel.

Methods: We conducted a retrospective review of all cases of OGI examined in the ophthalmology department at Soroka University Medical Center, Beer Sheva, Israel, from 1996 to 2005. A total of 118 eyes with OGI were detected and analyzed statistically. We recorded demographic data, cause of injury, initial visual acuity (VA), associated globe morbidity and injuries, Ocular Trauma Score (OTS), surgical procedures, postoperative complications, and final VA.

Results: The mean age of the study group was 36.1 years and included 84% males. The median follow-up was 13.3 months (range 6–66 months). The annual incidence of open globe injuries was 3.1 cases/100,000. In 84 cases (71%) the mechanism of open eye injury was laceration. Most of the injuries were work related (45%). Bilateral injury was observed in two patients. An intraocular foreign body was observed in 45 eyes (38%). Primary surgical repair was performed in 114 eyes. Six patients (5.1%) had complications with post-traumatic endophthalmitis and 12 patients (10.1%) underwent evisceration or enucleation. Clinical signs associated with poor visual outcomes included reduced initial VA, eyelid injury, and retinal detachment at presentation.

Conclusions: In our study population the most important prognostic factors in open globe injury were initial VA, eyelid injury and retinal detachment.

Background: Multidrug-resistant tuberculosis (MDR-TB) presents a difficult therapeutic problem due to the failure of medical treatment. Pulmonary resection is an important adjunctive therapy for selected patients with MDR-TB.

Objectives: To assess the efficacy of pulmonary resection in the management of MDR-TB patients.

Methods: We retrospectively reviewed the charts of MDR-TB patients referred for major pulmonary resections to the departments of thoracic surgery at Assaf Harofeh and Wolfson Medical Centers. For the period under study, 13 years (from 1998 to 2011), we analyzed patients’ medical history, bacteriological, medical and surgical data, morbidity, mortality, and short-term and long-term outcome.

Results: We identified 19 pulmonary resections (8 pneumonectomies, 4 lobectomies, 1 segmentectomy, 6 wedge resections) from among 17 patients, mostly men, with a mean age of 32.9 years (range 18–61 years). Postoperative complications developed in six patients (35.3%) (broncho-pleural fistula in one, empyema in two, prolonged air leak in two, and acute renal failure in one). Only one patient (5.8%) died during the early postoperative period, three (17.6%) in the late postoperative period, and one within 2 years after the resection. Of 12 survivors, 9 were cured, 2 are still under medical treatment, and 1 is lost from follow-up because of poor compliance.

Conclusions: Pulmonary resection for MDR-TB patients is an effective adjunctive treatment with acceptable morbidity and mortality.
 

Background: Fatigue is a common complaint in primary care and has a broad differential diagnosis, making the approach complex and often ineffective.

Objectives: To follow the course of adults without a significant known background disease who complain of fatigue for the first time, and to characterize the family physician’s approach.

Methods: The study population comprised a random sample of 299 patients aged 18–45 who presented with fatigue as a first-time single complaint to their family physician. Excluded were patients with chronic diseases or states that may include signs of fatigue. We analyzed the index encounter data, the diagnostic and laboratory tests, the medications prescribed and the one year clinical outcome.

Results: Seventy percent were women, average age 30.5 years, and 69% had no known co-morbidities; 57% of the patients were physically examined at the first visit and most (78.6%) were sent for laboratory analysis. Five percent of laboratory tests were positive. Eighty patients (26.8%) were given a specific diagnosis, with the leading diagnoses being anemia and infectious diseases; 18.7% were given sick leave at the first visit. Fatigue was more common in early summer.

Conclusions: The majority of young healthy patients complaining of fatigue are not diagnosed with an organic physiological disorder. Many of the study patients were sent for laboratory tests but in most cases these tests were not contributory to the diagnosis or management. It seems likely that the most efficient strategy would be watchful follow-up with a minimum of testing.

Background: Neonatal cerebral imaging is a sensitive technique for evaluating brain injury in the neonatal period. When performing computed tomography or magnetic resonance imaging, sedation is needed to prevent motion artifacts. However, general anesthesia in neonates carries significant risks and requires a complex logistic approach that often limits the use of these modalities. The development of infant immobilizers now enables imaging without general anesthesia and significantly increases clinical and research investigational opportunities.

Objectives: To assess the efficacy of the infant immobilizer instead of general anesthesia for infants undergoing imaging.

Methods: The study group comprised all infants born over a 1 year period at Soroka University Medical Center who required imaging such as MRI, CT or bone scans. A MedVac Vacuum Splint infant immobilizer was used in all infants to prevent motion during imaging. The success rate of a single scan and the need for general anesthesia were assessed.  

Results: Forty infants were examined during 1 year. The studies included 15 CT scans, 25 MRIs and 1 bone scan. The infants’ gestational age at birth was 27–40 weeks and the examinations were performed at ages ranging from delivery to 6 months old. All imaging was successful and none of the infants required general anesthesia.

Conclusions: An infant immobilizer should be used for imaging of newborns. Since this method carries a low risk and has a high success rate, general anesthesia in newborns is justified only when this non-invasive procedure fails.
 

The incidence of invasive uterine cervical cancer in Israeli Jewish women is persistently lower than in many other countries, although the frequency of premalignant lesions is similar to that in other populations. Most characteristics, except certain traditional habits, are similar to those in other populations. The incidence among women born in North Africa and their Israeli born descendants is significantly higher than in those born in other continents, possibly due to genetic factors. In view of the similarities to other populations the reason for the low incidence in Israel remains obscure, and whether it may be attributed to genetic reasons or to some traditional habits remains to be confirmed
 

Background: As the lowest natural site on earth (-415 meters), the Dead Sea is unique for its high pressure and oxygen tension in addition to the unparalleled combination of natural resources. Furthermore, its balneotherapeutic resorts have been reported to be beneficial for patients with various chronic diseases.

Objectives: To evaluate the safety, quality of life (QoL), exercise capacity, heart failure, and arrhythmia parameters in patients with systolic congestive heart failure (SCHF) and implantable cardioverter defibrillator (ICD) following descent and stay at the Dead Sea.

Methods: The study group comprised patients with SCHF, New York Heart Association functional class II-III after ICD implantation. The following parameters were tested at sea level one week prior to the descent, during a 4 day stay at the Dead Sea, and one week after return: blood pressure, O₂ saturation, ejection fraction (echocardiography), weight, B-type natriuretic peptide (BNP), arrhythmias, heart rate, heart rate variability (HRV), and QoL assessed by the Minnesota Living with Heart Failure questionnaire.

Results: We evaluated 19 patients, age 65.3 ± 9.6 years, of whom 16 (84%) were males and 18 (95%) had ICD-cardiac resynchronization therapy. The trip to and from and the stay at the Dead Sea were uneventful and well tolerated. The QoL score improved by 11 points, and the 6 minute walk increased by 63 meters (P < 0.001). BNP levels slightly increased with no statistical significance. The HRV decreased (P = 0.018). There were no significant changes in blood pressure, weight, O₂ saturation or ejection fraction.

Conclusions: Descent to, ascent from, and stay at the Dead Sea resort are safe and might be beneficial in some aspects for patients with sCHF and an ICD.
 

Background: Surgery is considered the mainstay of treatment for esophageal carcinoma. Transhiatal esophagectomy with cervical esophagogastric anastomosis is considered relatively safe with an oncological outcome comparable to that using the transthoracic approach.

Objectives: To review the results of the first 100 transhiatal esophagectomies performed in a single Israeli center.

Methods: The records of all patients who had undergone transhiatal esophagectomy during the period 2003–2009 were reviewed. The study group comprised the first 100 patients. All patients who had undergone colon or small bowel transposition were excluded. Indications for surgery included esophageal cancer, caustic injury and achalasia.

Results: The median follow-up period was 19.5 months. The anastomotic leakage rate was 15% and all were managed successfully with local wound care. The benign stricture rate was 10% and all were managed successfully with endoscopic balloon dilation. Anastomotic leakage was found to be a risk factor for stricture formation. Overall survival was 54%. Response to neoadjuvant therapy was associated with a favorable prognosis.

Conclusions: Transhiatal esophagectomy is a relatively safe approach with adequate oncological results, as long as it is performed in a high volume center.
 

Background: Diarrhea is a leading cause of child mortality worldwide. Rotavirus is one of the most common causes of severe diarrhea and dehydration in children.

Objectives: To compare the demographic, clinical and laboratory characteristics of patients with rotavirus gastroenteritis to those with other causes of gastroenteritis.

Methods: The medical records of children aged 0–18 years hospitalized with acute gastroenteritis in our facility between 1 January 2004 and 31 March 2006 were retrieved. Patients with rotavirus gastroenteritis were compared with patients who were rotavirus negative.

Results: The study group comprised 533 patients; 202 tested positive for rotavirus and 331 tested negative. Compared to patients with rotavirus-negative gastroenteritis, patients with rotavirus-positive gastroenteritis had a higher incidence of vomiting (185/202 vs. 212/331, 92% vs.  64%, P < 0.001), lethargy (67 vs. 51, 33% vs. 15%, P < 0.001), and dehydration (81 vs. 78 vs. 40% vs. 24%, P < 0.001). The need for intravenous rehydration therapy and the duration of hospitalization were higher in patients with rotavirus gastroenteritis.

Conclusions: Vomiting and dehydration are more common in hospitalized children with rotavirus gastroenteritis than in children with gastroenteritis due to other causes.