Israel Medical Association Journal

Background: Wilson disease (WD) is an autosomal recessive disease characterized by a defect in hepatocellular copper transport with a wide spectrum of clinical manifestations and reported prevalence.

Objectives: To study the epidemiology and clinical manifestations of WD between two ethnic groups, Jewish and Bedouins, with different marriage patterns, in southern Israel.

Methods: We conducted a retrospective study investigating the clinical course and laboratory characteristics of children diagnosed with WD who were treated at Soroka University Medical Center.

Results: Sixteen patients were diagnosed between 2000 and 2021 (8 males, 50%), 14 were of Bedouins origin. The total cohort prevalence was 1:19,258 while the prevalence of the disease was significantly higher among Bedouins compared to Jews (1:10,828 vs.1:78,270, P-value = 0.004). The median age at diagnosis was 10.2 years, without a significant difference between the groups. The most common presenting symptom was hepatic manifestations: 81.2% had elevated transaminases, 12.5% had jaundice, 25% had neurological symptoms, one had a Kayser-Fleischer ring, and one had psychosis. The mean ceruloplasmin level was 3.0 mg/dl. During follow-up, nine patients normalized transaminases with treatment, while three required liver transplantation. There was no significant difference in the clinical presentation and disease course between the two ethnic groups.

Conclusions: Our cohort showed a high prevalence of WD compared to previous studies, especially among the Bedouin population, which has a high consanguinity rate. The prognosis of WD in our population is similar to other studies and depends mainly on treatment compliance.

Background: Several studies have shown an association between increased red blood cell distribution width (RDW) and adverse outcomes in various acute diseases. Small studies have suggested that RDW is a useful predictor of acute pancreatitis severity.

Objectives: To determine the association between RDW at admission and early mortality in acute pancreatitis. To assess whether RDW adds to the predictive ability of the Glasgow Imrie Score.

Methods: In this observational study, we included all adult patients admitted with a primary diagnosis of acute pancreatitis between January 2008 and June 2021. Patients were divided into two groups according to RDW: normal RDW (RDW ≤ 14.5%) and elevated RDW (RDW > 14.5%).

Results: Within 30 days of admission, 29/438 patients (6.6%) with increased RDW and 20/1250 patients (1.6%) with normal RDW had died: univariate analysis (odds ratio 4.6, 95% confidence interval 2.45–7.9, P < 0.001), fully adjusted model (odds ratio 3.29, 95% confidence interval 1.75–6.26, P < 0.001). We calculated receiver operating characteristic curve (ROC) for RDW alone, Glasgow Imrie Score alone, and a combination of Glasgow Imrie Score with RDW. We assessed their ability to predict 30-day mortality. Area under the ROC curve (AUC) of RDW alone was 0.671 and Glasgow Imrie Score AUC was 0.682; Glasgow Imrie Score plus RDW had an AUC of 0.769.

Conclusions: In patients with acute pancreatitis, elevated RDW at admission was independently associated with increased 30-day mortality. The addition of RDW to a pancreatitis prognostic tool such as the Glasgow Imrie Score improves its predictive ability.

Background: Condylar hyperplasia is a non-neoplastic overgrowth of the mandibular condyle. The disorder is progressive and causes gradual jaw deviation, facial asymmetry, and dental malocclusion. The only treatment capable of stopping hyperplastic growth is surgical condylectomy to remove the upper portion of the condyle containing the deranged growth center. When this procedure is conducted in proportion to the length of the healthy side it may also correct the jaw deviation and facial asymmetry.

Objectives: To assess the degree to which condylectomy corrects the asymmetry and to determine the proportion of patients after condylectomy who were satisfied with the esthetic result and did not desire further corrective surgery.

Methods: We conducted a retrospective analysis of medical records of patients who underwent condylectomy that was not followed by corrective orthognathic surgery for at least 1 year to determine the degree of correction of chin deviation and lip cant. Patient satisfaction from treatment or desire and undergo further corrective surgery was reported.

Results: Chin deviation decreased after condylectomy from a mean of 4.8⁰ to a mean of 1.8⁰ (P < 0.001). Lip cant decreased after condylectomy from a mean of 3.5⁰ to a mean of 1.5⁰ (P < 0.001). Most patients (72%) were satisfied with the results and did not consider further corrective orthognathic surgery.

Conclusions: Proportional condylectomy could be a viable treatment to both arrest the condylar overgrowth and achieve some correction of the facial asymmetry.

Gastric perforation secondary to foreign body ingestion is rare. While obvious signs of acute abdomen usually lead to a prompt diagnosis by emergency department (ED) staff, this can be delayed in non-responsive or mentally disabled patients. An altered pain perception has been described in schizophrenia, as part of a complex phenomenon, which is thought to be unrelated to changes in nociceptive pathways. Cognitive impairment and negative symptoms may strongly influence the patient’s expression of pain [1].

Background: Drooling is the unintentional loss of saliva from the mouth, usually caused by poor coordination of the swallowing mechanism. It is commonly seen in patients with chronic neurologic disorders, such as Parkinson's disease, amyotrophic lateral sclerosis (ALS), cerebral palsy, and stroke, as well as in patients with cognitive impairment and dementia.

Objectives: To evaluate the efficacy and safety of ultrasound-guided botulinum toxin injections into the parotid and submandibular salivary glands for the treatment of drooling.

Methods: We conducted a retrospective analysis of the medical records of 12 consecutive patients treated with botulinum toxin injections into the parotid and submandibular glands for the first time. The primary outcome variable was the subjective improvement of drooling on a 5-point scale. Secondary outcome variables were duration of the therapeutic effect, request to undergo additional treatment, and adverse events.

Results: Of 12 patients, 8 (67%) reported considerable improvement after treatment, 3 reported slight improvement, and 1 reported development of dry mouth. All patients stated that they felt the effects 1 week after the injections; the mean duration of the therapeutic effect was 4.5 months (range 3–9 months). One patient suffered from local hematoma and ecchymosis that did not require medical care. Another patient complained of difficulty swallowing, which did not require medical treatment and resolved spontaneously within 1 month.

Conclusions: Ultrasound-guided botulinum toxin injections into the parotid and submandibular glands seem to be a safe and effective therapy for the treatment of drooling. Further long-term prospective studies with varying doses are warranted.

Background: Temporomandibular joint (TMJ) disorders affect roughly 5% of the population. Chronic closed lock is one of the more common temporomandibular disorders and is characterized by limited mouth opening and various degrees of joint pain and dysfunction. 

Objectives: To evaluate the efficacy and safety of arthroscopic lysis and lavage of the TMJ to treat limited mouth opening in patients suffering from chronic closed lock. 

Methods: This is a retrospective analysis of the medical records of 47 patients with chronic closed lock treated with arthroscopic lysis and lavage. Patients were diagnosed preoperatively with closed lock of the TMJ and were unresponsive to previous conservative therapy. Three outcome variables were used to assess the efficacy of treatment: maximal mouth opening, subjective evaluation of overall improvement by the patient (on a 3 grade scale: “excellent,” “fair,” and “poor”), and length of hospital stay. In addition, complications were reported. 

Results: The maximal mouth opening values increased from a mean of 27 ± 4.7 mm preoperatively to a mean of 38 mm ± 5.4 mm postoperatively. The subjective evaluation of overall improvement was “excellent” in 15 patients (32%), “fair” in 21 (45%), and “poor” in 11 (23%). Success was defined as a maximal mouth opening of 35 mm or more after arthroscopy, and not reporting a “poor” result in the subjective evaluation. This was achieved in 36 patients, yielding a success rate of 77%. The mean length of hospital stay was less than one day (0.78 days). The complication rate was low (8%) and all complications resolved within 2 weeks. 

Conclusion: Arthroscopic lysis and lavage is a simple, safe, and efficient minimally invasive intervention for the treatment of chronic closed lock of the TMJ.