The Israel Medical Association journal : IMAJ最新文献

{"title":"Imaging Findings in Patients with Near-drowning Incidents in the Dead Sea and Their Correlation with Clinical Outcomes.","authors":"Yazan Kdmanai, Ziv Ribak, Uriel Wachsman, Roman Nevzorov, Hussam Jabarin, Carmi Bartal, Leonid Barski","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Objectives: </strong>To evaluate imaging findings from Dead Sea near-drowning victims and to correlate these findings with clinical outcomes.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":524150,"journal":{"name":"The Israel Medical Association journal : IMAJ","volume":"28 9","pages":"584-589"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148898850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Smartphone-based Measurement of Post-traumatic Elbow Range of Motion: Agreement with Goniometry and Clinical Assessment.","authors":"Dror Ronel, Galina Cohen Shapiro, Nadav Rinott, Avi Fishbein, Yaniv Keren","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Objectives: </strong>To evaluate whether smartphone application-based elbow ROM measurements are comparable to visual estimation and goniometry in patients following elbow trauma.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":524150,"journal":{"name":"The Israel Medical Association journal : IMAJ","volume":"28 9","pages":"590-594"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148898799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Retrospective Before-and-After Study Evaluating the Impact of Clinical Pharmacist Involvement on Patients Hospitalized with Bacteremia.","authors":"Yael Givon Cohen, Matan Milles, Orly Shimony, Anna Nikonov, Tehilah Meged-Book, Hovav Azulay, Tal Schlaeffer-Yosef, Tali Shafat, Lior Nesher","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Bloodstream infections (BSI) are associated with high morbidity and mortality. Inappropriate empirical antimicrobial therapy leads to poor outcomes.</p><p><strong>Objectives: </strong>To evaluate the impact of clinical pharmacist intervention on the appropriateness of antibiotic treatment in patients hospitalized with bacteremia.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":524150,"journal":{"name":"The Israel Medical Association journal : IMAJ","volume":"28 9","pages":"557-563"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148898744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Beyond two rooms: proton therapy access for all.","authors":"Philip Blumenfeld, Aron Popovtzer","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":524150,"journal":{"name":"The Israel Medical Association journal : IMAJ","volume":"28 9","pages":"607-610"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148898862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ethnic Genotype: Phenotype Correlation and Treatment of DADA2. A Single-center Cohort.","authors":"Or Kalish, Shiri Spielman, Amarilla B Mandola, Etai Adam, Sarah Malkiel, Irit Tirosh","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Objectives: </strong>To describe a decade of DADA2 management within a uniquely diverse population.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":524150,"journal":{"name":"The Israel Medical Association journal : IMAJ","volume":"28 9","pages":"549-554"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148898860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tricho-Hepato-Enteric Syndromic Immunodeficiency: Clinical Spectrum, Pathobiology, and Emerging Therapies.","authors":"Amarilla B Mandola, Shirly Frizinsky, Ido Somekh, Shachar Naor, Raz Somech","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Syndromic inborn errors of immunity (IEIs) are a heterogeneous group of disorders characterized by immune dysfunction associated with congenital anomalies and multisystem involvement. Tricho-hepato-enteric syndrome (THES) is an ultra-rare autosomal recessive syndromic IEI caused by biallelic pathogenic variants in TTC37 or SKIV2L. Delayed recognition is common because of its broad clinical spectrum.</p><p><strong>Objectives: </strong>To describe the clinical, immunologic, genetic, and histopathologic characteristics of two children with THES and to highlight a structured diagnostic approach for syndromic immunodeficiencies.</p><p><strong>Methods: </strong>We retrospectively reviewed the clinical presentation, laboratory investigations, immune phenotyping, endoscopic and histopathologic findings, and molecular analyses of two unrelated children diagnosed with THES at a tertiary pediatric immunology center. Molecular confirmation was obtained by whole-exome sequencing.</p><p><strong>Results: </strong>Both patients presented during early infancy with intractable diarrhea, severe failure to thrive, characteristic dysmorphic features, brittle woolly hair, and inflammatory enteropathy requiring prolonged nutritional support. Immunologic evaluation demonstrated immune dysregulation, including inverted CD4/CD8 ratios, abnormalities of humoral immunity, and impaired vaccine-specific antibody responses. Histopathology revealed chronic active colitis with crypt distortion, inflammatory infiltrates, and crypt abscesses, consistent with very-early-onset inflammatory bowel disease-like enteropathy. Whole-exome sequencing identified homozygous pathogenic variants in SKIV2L in one patient and TTC37 in the other, establishing the diagnosis. Management included nutritional support, immunoglobulin replacement, antimicrobial prophylaxis, and immunomodulatory therapy.</p><p><strong>Conclusions: </strong>Recognition of syndromic phenotype combined with comprehensive immune evaluation and early genomic testing facilitates prompt diagnosis, multidisciplinary management, genetic counseling, and consideration of emerging targeted therapies.</p>","PeriodicalId":524150,"journal":{"name":"The Israel Medical Association journal : IMAJ","volume":"28 8","pages":"487-493"},"PeriodicalIF":0.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148682084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Unusual Case of Agammaglobulinemia.","authors":"Lior Keren David, Ilan Dalal, Adi Ovadia","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":524150,"journal":{"name":"The Israel Medical Association journal : IMAJ","volume":"28 8","pages":"517-519"},"PeriodicalIF":0.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148682085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Familial STING: A Father and Daughter Journey to SAVI Diagnosis.","authors":"Simon Lassman, Joel Reiter, Sigal Matza-Porges, Yackov Berkun","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":524150,"journal":{"name":"The Israel Medical Association journal : IMAJ","volume":"28 8","pages":"508-510"},"PeriodicalIF":0.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148682097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bone Marrow Failure Syndromes: Clinical and Genetic Characterization in TERT-associated Dyskeratosis Congenita.","authors":"Ido Somekh, Amarilla B Mandola, Shirly Frizinsky, Atar Lev, Ben Pode-Shakked, Nurit Loberman Nachum, Raz Somech, Amos J Simon","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Bone marrow failure syndromes (BMFs) comprise a heterogeneous group of genetic disorders characterized by impaired hematopoiesis and multisystem involvement. Dyskeratosis congenita (DC) is a telomere biology disorder caused by defects in telomerase or telomere maintenance, leading to progressive BMF and variable extra-hematopoietic manifestations.</p><p><strong>Objectives: </strong>To describe the clinical, immunologic, genetic, and telomere biology findings in a patient with DC caused by a novel biallelic telomerase reverse transcriptase (TERT) mutation, and to highlight diagnostic and therapeutic considerations in telomere-associated BMFs.</p><p><strong>Methods: </strong>We assessed cellular and humoral immune functions. Genetic analysis was conducted using whole-exome sequencing (WES) with segregation analysis. Telomere length was assessed by flow-FISH. Functional and radiologic evaluations were performed to define disease extent.</p><p><strong>Results: </strong>A 2-year old male born to consanguineous parents presented with multisystemic clinical features, and hypocellular bone marrow. WES identified a novel homozygous TERT missense variant (c.3052G>A; p.Ala109Thr) supported by markedly shortened telomeres. Neuroimaging revealed cerebellar hypoplasia consistent with Hoyeraal-Hreidarsson syndrome. Immunologic evaluation demonstrated skewed CD4:CD8 ratios. An incidental heterozygous MEN1 variant was also detected.</p><p><strong>Conclusions: </strong>We expand the clinical and genetic spectrum of TERT-associated DC and illustrate the critical role of genomic diagnostics and telomere assessment in BMFs. Early molecular diagnosis enables targeted evaluation, informs prognosis, and guides personalized management in telomere biology disorders. In addition, the identification of actionable secondary variants further highlights both the power and complexity of comprehensive genomic testing.</p>","PeriodicalId":524150,"journal":{"name":"The Israel Medical Association journal : IMAJ","volume":"28 8","pages":"494-499"},"PeriodicalIF":0.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148682088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Granulomatous Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency.","authors":"Shira Benor, Franziska Hentschel, Tel Freund, David Hagin","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Common variable immunodeficiency (CVID) is the most common clinically significant primary immunodeficiency disorder, typically presenting with hypogammaglobulinemia and recurrent infections. Mechanistically, CVID is caused by abnormal B-cell maturation or function. These abnormalities lead to an impaired ability to generate a normal quantity or diversity of antibodies and an impaired response to neo-antigens. In addition to the resulted immunodeficiency, CVID can also involve immune dysregulation affecting different organ systems, with the lungs being one of the more commonly involved organs. Granulomatous lymphocytic interstitial lung disease (GLILD) is a challenging and well known CVID-related complication. It is associated with high morbidity and increased risk of mortality.</p><p><strong>Objectives: </strong>To describe the clinical and immunological features of five CVID patients with radiologic and/or pathologic features consistent with granulomatous lymphocytic interstitial lung disease.</p><p><strong>Methods: </strong>We conducted a review of clinical, laboratory, imaging, and pathology data, as well as B-cell and T-cell immunophenotyping of patient PBMCs, focusing on unique characteristics of CVID GLILD patients.</p><p><strong>Results: </strong>CVID GLILD patients showed several clinical characteristics, including multiorgan involvement with cytopenias and lymphoproliferation but without significant gastrointestinal involvement. B-cell phenotyping showed abnormal B-cell maturation and development with severely impaired class switching. In addition, unique T-cell phenotype with low to near-absent naive CD4+ T cells was observed.</p><p><strong>Conclusions: </strong>Lung involvement in the form of GLILD is associated with significant co-morbidity and typical B-cell and T-cell immunophenotyping. Patients should be actively screened for the possibility of GLILD, especially when regularly performed lymphocyte immunophenotyping suggests similar patterns.</p>","PeriodicalId":524150,"journal":{"name":"The Israel Medical Association journal : IMAJ","volume":"28 8","pages":"500-507"},"PeriodicalIF":0.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148682082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}