BACKGROUND:Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive disorder caused by loss-of-function mutations in the ADA2 gene, with a broad phenotype spanning systemic vasculitis, hematologic, immune deficiency, and autoinflammatory manifestations. OBJECTIVES:To describe a decade of DADA2 management within a uniquely diverse population. METHODS:We conducted a single-center retrospective cohort study of genetically confirmed DADA2 patients (2014-2024). Demographics, clinical manifestations, laboratory findings, treatments, and long-term outcomes were reviewed. RESULTS:Seventeen pediatric patients were included from two ethnic groups: Arab Muslim (12/17, 70%) and Georgian Jewish (5/17, 29%). The median age at symptom onset was 3.5 months and at diagnosis 4 years. Phenotypes were purely vasculitic/inflammatory (5/17), purely hematologic (3/17), mixed hematologic-inflammatory (6/17), or mixed hematologic-immunodeficiency (3/17). None had isolated immune deficiency. The purely vasculitic/inflammatory phenotype was confined to Georgian Jewish patients, all homozygous for p.Gly47Arg, presenting with cutaneous and ischemic manifestations. Twelve patients received TNF-α inhibitors: 9 achieved complete response, 1 partial, and 2 none, with no subsequent strokes. Arab patients more often presented with fever, red cell aplasia, cytopenias, and immunodeficiency at younger ages. Three patients underwent hematopoietic stem cell transplantation (HSCT). Two responded favorably, one died of infection-related complications after engraftment. CONCLUSIONS:We observed a distinct, ethnicity-driven genotype-phenotype correlation: Georgian Jewish patients with homozygous p.Gly47Arg had a pure vasculitic/inflammatory phenotype responsive to TNF-α inhibitors, whereas Arab patients harbored heterogeneous variants with hematologic/ immune deficiency phenotype potentially benefiting from HSCT. Early, genetically informed diagnosis and phenotype-driven, multidisciplinary management are essential to improve outcomes.
BACKGROUND:Although the epidemiology of Creutzfeldt-Jakob disease (CJD) in Israel has been studied extensively, it is unknown whether its incidence is mainly a result of vertical transmission due to the high penetrance of the E200K mutation in patients with familial CJD (f-CJD) compared to sporadic CJD (s-CJD), or whether there are other yet undiscovered contributing factors. OBJECTIVES:To conduct an age-period-cohort (APC) analysis of Creutzfeldt-Jakob disease in Israel. METHODS:In this APC analysis, we used a web-based statistical tool to identify whether patient age, period of birth, and cohort had any effect on incidence trends of s-CJD and f-CJD. RESULTS:APC analysis demonstrated no significant shifts in net drift, indicating the absence of any overall trend of changes over time. Cohort analysis revealed that individuals affected by either s-CJD or f-CJD who were mostly born in Israel in the second half of the 20th century exhibited the same risk as those born mainly in Libya at the beginning of 20th century. There were no changes in risk of s-CJD and f-CJD between 1985 and 2019. CONCLUSIONS:The incidence rates of s-CJD and f-CJD in Israel have remained unchanged, indicating that the probability of a future increase in the incidence is negligible.
BACKGROUND:Bloodstream infections (BSI) are associated with high morbidity and mortality. Inappropriate empirical antimicrobial therapy leads to poor outcomes. OBJECTIVES:To evaluate the impact of clinical pharmacist intervention on the appropriateness of antibiotic treatment in patients hospitalized with bacteremia. METHODS:A retrospective study was conducted at the Soroka Medical Center in Israel. The intervention was implemented starting in July 2018. We compared 170 patients who received pharmacist intervention (August 2018 to June 2019) to 173 control patients (January 2017 to July 2018). The primary outcome was a composite of appropriate antibiotic choice and dosage. RESULTS:Pharmacist intervention significantly improved appropriate antibiotic dosing (97.6% vs. 91.3%, P = 0.011) and selection based on pathogen sensitivity (100% vs. 95.4%, P = 0.007). The most significant effect was observed in patients with intermediate renal function (CrCl 30-60 ml/min). Multivariate analysis confirmed pharmacist intervention as a strong predictor of appropriate treatment (odds ratio 5.00, 95% confidence interval 1.64-15.25, P = 0.005). The intervention group had longer hospital stays (median 15 vs. 9 days, P < 0.001) and lower 7-day relapse rates (2.4% vs. 8.7%, P = 0.010). CONCLUSIONS:Clinical pharmacist interventions significantly improved the appropriateness of antibiotic treatment in patients with bacteremia, particularly in those with intermediate renal function. Despite longer hospital stays, the intervention group had lower early relapse rates than the control group. These findings support the integration of clinical pharmacists into antimicrobial stewardship programs.
BACKGROUND:Vitamin B6 is an essential cofactor in amino acid metabolism. Its deficiency is linked to neuropathy, anemia, and cardiovascular risk. Deficiency is common among hemodialysis patients due to dialytic losses and restrictive diets; however, data related to high-flux (HF) dialysis membranes and Mediterranean dietary patterns are scarce. OBJECTIVES:To assess the prevalence and determinants of deficiency in unsupplemented Israeli hemodialysis patients. METHODS:This retrospective chart review, utilizing a cross-sectional design, was conducted in August 2024. We included 27 chronic hemodialysis patients not receiving vitamin B6 supplementation, representing the available unsupplemented cohort from a unit of approximately 150 patients. Vitamin B6 status was assessed by measuring plasma pyridoxal-5'-phosphate (PLP); deficiency < 20 ng/ml. Clinical and nutritional parameters were evaluated to identify deficiency. RESULTS:Vitamin B6 deficiency was noted in 63% of patients (median PLP 18 ng/ml, interquartile range 13-23). The cohort was 67% male, median age 74 years. All patients were treated with HF dialyzers. No significant correlations were found between PLP levels and nutritional indices or laboratory markers. A non-significant trend was observed between older age and lower PLP levels (r = -0.35, P = 0.098). CONCLUSIONS:Vitamin B6 deficiency was common among Israeli hemodialysis patients treated with HF dialyzers, despite a presumed Mediterranean diet. It was not associated with nutritional status, suggesting dialysis-related losses, potentially augmented by high-flux membranes, may outweigh intake. Given the high prevalence of deficiency and low cost, routine low-dose vitamin B6 supplementation may be warranted, particularly in older patients.
BACKGROUND:The Dead Sea is a hypersaline lake with unique mineral concentrations. Ingestion and aspiration of its water can lead to severe electrolyte imbalances and chemical pneumonitis. OBJECTIVES:To evaluate imaging findings from Dead Sea near-drowning victims and to correlate these findings with clinical outcomes. METHODS:We conducted a retrospective study of patients (age > 18 years) admitted to a tertiary medical center between 2004 and 2024 following Dead Sea near-drowning. Imaging studies were categorized by a radiology expert into normal, interstitial changes, unilateral consolidation, or bilateral consolidation. Clinical outcomes, including mortality and intensive care unit (ICU) admission, were analyzed across the groups. RESULTS:Of the 150 patients identified, 68.7% (n=103) had normal chest X-rays. Abnormal findings included bilateral consolidation 12.7% (n=19), unilateral consolidation 9.3% (n=14), and interstitial changes 9.3% (n=14). Patients with bilateral consolidation had significantly higher peak serum magnesium (median 10.5 vs. 3.1 mg/dl in the normal group; P < 0.001) and peak calcium (median 13.1 vs. 10.3 mg/dl; P < 0.001). Bilateral consolidation was a strong predictor of severity: 26.3% in-hospital mortality rate compared to 1% in the group with normal X-rays (P < 0.001). ICU admission was required for 78.9% of patients with bilateral consolidation and 71.4% with interstitial changes (P < 0.001). CONCLUSIONS:Radiologic findings in Dead Sea near-drownings are predictive of clinical trajectory. Bilateral alveolar consolidation is an indication of massive mineral aspiration, severe hypermagnesemia, and high mortality. Early imaging is essential for risk stratification and for determining the level of care required.
BACKGROUND:Elbow range of motion (ROM) is commonly assessed during initial evaluation and follow-up. While goniometry is considered the current gold standard, previous studies have raised concerns regarding its user dependence and measurement consistency. OBJECTIVES:To evaluate whether smartphone application-based elbow ROM measurements are comparable to visual estimation and goniometry in patients following elbow trauma. METHODS:We conducted a prospective cohort study of 18 patients with elbow injuries. Demographic and medical data were collected. Maximal flexion-extension active ROM was measured by goniometry, smartphone application, and visual estimation by orthopedic surgeons. Measurements were compared to determine agreement and accuracy among different modalities. RESULTS:Eighteen patients with elbow injuries were included. Inter-rater reliability was good to excellent across all rater groups (intraclass correlation coefficient 0.78-0.93). Using paired t-tests with Bonferroni correction, only one attending surgeon showed a significant underestimation of extension compared to goniometry (16.9° vs. 22.5°, P < 0.05). No significant differences were found for residents, other attendings, or smartphone measurements in either extension or flexion (P > 0.05). Bland-Altman analysis revealed modest mean bias within ± 6° for all methods, although limits of agreement were wide (up to ± 20-30°). Smartphone-based measurements demonstrated significantly higher and less variable Pearson correlation coefficients with goniometry compared to surgeon visual estimations (0.91-0.95 vs. 0.81-0.93, P < 0.05). CONCLUSIONS:Smartphone-based elbow ROM measurements were statistically comparable to goniometry and demonstrated superior correlation and accuracy relative to clinical visual assessments. These findings support the integration of smartphone tools in the clinical setting.
BACKGROUND:Healthcare utilization in patients with psoriasis has been described from the perspective of psoriasis healthcare centers. Psoriasis healthcare utilization at the population level, including appointments with family physicians, impacts the overall financial expenditure. OBJECTIVES:To describe the utilization of healthcare services in patients with psoriasis compared to the general non-psoriasis population. METHODS:We conducted a cross-sectional, population-based analysis of data from Clalit Health Services, the largest public health service provider in Israel, comparing the annual healthcare utilization and medication consumption of all Clalit members with psoriasis in 2023 with an age- and sex-matched group at a primary care clinic. We compared up to five non-psoriasis items. RESULTS:The study included 835,422 people (140,927 individuals with psoriasis and 694,671 without). Patients with psoriasis had more annual physician appointments than controls, and the meetings were longer. Patients with psoriasis took more sick leave and required more hospital admission compared to the control group. Tumor necrosis factor (TNF) inhibitors were prescribed much more often to patients with psoriasis than to the control group (3147 patients vs. 1857 in the matched control). More IL-17 blockers and IL-23 blockers were also prescribed more in the psoriasis group, although at a much lower level than the TNF inhibitors. CONCLUSIONS:Patients with psoriasis used more healthcare services than the control group. Healthcare providers should allocate more resources to psoriasis care, both for primary care and at specialized psoriasis centers.
BACKGROUND:National crises can significantly impact healthcare utilization patterns yet analyses of different types of crises are limited. While the effects of the coronavirus disease 2019 (COVID-19) pandemic on emergency department (ED) utilization have been well-documented, the healthcare impact of the Israel-Hamas war, which began 7 October 2023, remains unexplored. OBJECTIVES:To compare ED utilization patterns for non-traumatic low back pain (LBP) during two distinct national crises. METHODS:We conducted a retrospective observational study analyzing ED visits for non-traumatic LBP at our medical center. We compared ED utilization patterns, visual analog scale (VAS) pain scores, and surgical rates during 60 days before and after two distinct dates: 7 October 2023 and 19 March 2020 (the start of the COVID-19 lockdown). Statistical analysis included independent t-tests for continuous variables and chi-square tests for categorical variables. RESULTS:Following 7 October, ED visits decreased by 28.6% (504 to 360). Mean VAS scores and surgery rates showed a non-significant increase from 5.5 ± 2.6 to 5.8 ± 2.4, and from 3.0% to 4.2%, respectively. During the COVID-19 lockdown, ED visits declined by 44.2%, with non-significant changes in pain scores (6.0 ± 3.0 to 5.5 ± 2.9) and surgical rates (3.5% to 2.5%). CONCLUSIONS:Both events led to significant reductions in ED utilization for non-traumatic LBP, despite the heightened risk factors. Surgical rates remained stable, yet many symptomatic patients may have foregone adequate care. These findings underscore the need for resilient, crisis-specific emergency preparedness strategies to ensure continued access to care.
BACKGROUND:Postoperative atrial fibrillation (POAF) is well recognized after cardiac surgery; however, its incidence and clinical course following non-cardiac surgery (NCS) remain unclear. OBJECTIVES:To evaluate the association between POAF after NCS, patient co-morbidities, and type of surgery. METHODS:In this retrospective cohort study, patients who underwent NCS at a private hospital network between 2016 and 2023 were included. Patients with a history of atrial fibrillation (AF) were excluded. Patients who developed POAF within 24-48 hours were compared with those who did not. To address baseline differences, propensity score matching (1:10) and inverse probability weighting combined with Firth's penalized logistic regression were applied. Odds ratios with 95% confidence intervals were calculated. RESULTS:POAF developed in 174 patients within 24-48 hours postoperatively, compared with 391,329 controls. Older age, ischemic heart disease, diabetes, and prior stroke were associated with increased odds of POAF, although significance diminished after multivariable adjustment. Weighted regression confirmed these findings with narrower confidence intervals. Higher POAF risk was observed after laparoscopic pancreatectomy, hepatectomy, rectopexy, synovectomy, and gastrectomy. Total knee replacement was the most common procedure among POAF cases, representing 22% of cases and a fourfold increased risk. CONCLUSIONS:Advanced age and cardiovascular co-morbidities were associated with increased POAF risk after NCS, although attenuated after adjustment. Consistent findings across statistical models support the robustness of the results. Targeted monitoring in high-risk patients may improve postoperative outcomes.
