Israel Medical Association Journal最新文献_第4页

Molybdenum Cofactor Deficiency Type A disease in Northern Israel. 以色列北部缺钼辅助因子A型疾病

IF 1.8 4区医学

Israel Medical Association Journal Pub Date : 2025-03-01

Eliyahu Fund, Hanna Mandel, Yoav Zehavi, Ronen Spiegel

{"title":"Molybdenum Cofactor Deficiency Type A disease in Northern Israel.","authors":"Eliyahu Fund, Hanna Mandel, Yoav Zehavi, Ronen Spiegel","doi":"","DOIUrl":"","url":null,"abstract":"Background: Molybdenum cofactor deficiency (MoCD) is a group of three autosomal recessive disorders caused by deficiency of the de novo metabolic synthesis of molybdenum cofactor. Most patients present within the first weeks of life with intractable seizures and progressive encephalopathy. Type A is the most common form caused by pathogenic variants in MOCS1 gene that result in deficiency of the first enzyme, cyclic pyranopterin monophosphate synthase.Objectives: To characterize MoCD type A clinical features, disease course, neuroradiology, and genetic features in Northern Israel.Methods: In this retrospective study, we collected the clinical, brain imaging, and genetic data of confirmed MoCD type A patients in Northern Israel.Results: The study included 10 confirmed MoCD type A patients (6 males, 4 females), all deceased. The patients were of consanguineous families. Nine patients were of Arab Muslim ethnicity and one was of Druze origin. A total of four different homozygous genotypes were identified. All patients presented initially between 1-4 days of life. Three died within the first month of life, five within the first year of life, and only two died after the age of 7 years. All patients who survived beyond the first month developed profound global developmental delays, had poorly controlled epilepsy, and developed severe microcephaly.Conclusions: Although MoCD type A is an ultra-rare disease worldwide, it is relatively common in northern Israel due to several founder mutations and high consanguinity. All the patients presented the severe neonatal form of the disease with significant neurological deterioration and early lethality within infancy and childhood.","PeriodicalId":50268,"journal":{"name":"Israel Medical Association Journal","volume":"27 3","pages":"142-146"},"PeriodicalIF":1.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Inborn Errors of Immunity: A Fascinating and Ever-Evolving Field Advancing Medicine. 先天免疫错误：一个引人入胜且不断发展的医学领域。

IF 1.8 4区医学

Israel Medical Association Journal Pub Date : 2025-03-01

Ido Somekh, Ilan Dalal, Raz Somech

引用次数: 0

Interobserver Agreement in Assessment of Chest Radiographs for the Diagnosis of Pneumonia between Residents and Radiologists in a Pediatric Emergency Department: The Role of patient and Resident Characteristics. 儿科急诊科住院医师和放射科医师在评估胸片诊断肺炎的一致性：患者和住院医师特征的作用

IF 1.8 4区医学

Israel Medical Association Journal Pub Date : 2025-03-01

Tali Pelts-Shlayer, Michael Benacon, Yair Glick, Daniel Yakubovich, Nechama Sharon

{"title":"Interobserver Agreement in Assessment of Chest Radiographs for the Diagnosis of Pneumonia between Residents and Radiologists in a Pediatric Emergency Department: The Role of patient and Resident Characteristics.","authors":"Tali Pelts-Shlayer, Michael Benacon, Yair Glick, Daniel Yakubovich, Nechama Sharon","doi":"","DOIUrl":"","url":null,"abstract":"Background: Chest radiograph is a standard procedure for diagnosis of pneumonia; however, interpretation shows considerable variability among observers.Objectives: To assess the extent of agreement between pediatric residents and board-certified radiologists in interpretation of chest radiography for detection of pneumonia. To evaluate the impact of resident experience, patient age, and signs of infection on this phenomenon.Methods: The cohort included 935 patients with suspected pneumonia admitted to the pediatric emergency department at a non-tertiary medical center in Israel 2019-2021. All patients had chest radiographs interpreted by a resident and a radiologist. Interobserver agreement was assessed using Κ and prevalence-adjusted bias-adjusted κ (PABAK) with 95% confidence intervals (95%CI). Results were stratified by resident experience (junior or senior), patient age (≤ 3 vs. > 3 years), white blood cells (≤ 15,000 vs. > 15,000 cells/ml), C-reactive protein (≤ 5 vs. > 5.0 mg/dl), and temperature (< 38.0°C vs. ≥ 38.0°C).Results: Moderate agreement between pediatric residents and radiologists was demonstrated for diagnosis of pneumonia (κ= 0.45). After adjustment for disease prevalence, the extent of agreement increased to near-substantial (PABAK= 0.59, 95% confidence interval 0.54-0.64). The extent of agreement was higher for children over 3 years of age and in patients without clinical or biochemical features of pneumonia, especially when diagnosis of pneumonia was ruled out.Conclusions: A second reading of chest radiographs by an experienced radiologist should be considered, particularly for patients younger than 3 years of age and in those with signs of infection and an initial diagnosis of pneumonia.","PeriodicalId":50268,"journal":{"name":"Israel Medical Association Journal","volume":"27 3","pages":"147-152"},"PeriodicalIF":1.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Artificial Intelligence: Large Language Models in Pediatrics. What Do We Know So Far? 人工智能：儿科中的大型语言模型。到目前为止我们知道什么？

IF 1.8 4区医学

Israel Medical Association Journal Pub Date : 2025-03-01

Maayan Mandelbaum, Daniella Levy-Erez, Shelly Soffer, Eyal Klang, Sarina Levy-Mendelovich

引用次数: 0

Using Graphic Organizers for Parental Education on Pediatric Medical Guidelines: Spacer Use for Asthma Inhalers and Rectal Diazepam for Seizures. 使用图形组织者对儿童医学指南的家长教育：间隔剂用于哮喘吸入器和直肠安定用于癫痫发作。

IF 1.8 4区医学

Israel Medical Association Journal Pub Date : 2025-03-01

Inbal Golan-Tripto, Naama Apian-Amichai, Yotam Dizitzer-Hillel, Sameera Zoubi, Ely Kozminsky, Aviv Goldbart

{"title":"Using Graphic Organizers for Parental Education on Pediatric Medical Guidelines: Spacer Use for Asthma Inhalers and Rectal Diazepam for Seizures.","authors":"Inbal Golan-Tripto, Naama Apian-Amichai, Yotam Dizitzer-Hillel, Sameera Zoubi, Ely Kozminsky, Aviv Goldbart","doi":"","DOIUrl":"","url":null,"abstract":"Background: Understanding medical guidelines can be challenging for patients and their families, leading to incorrect use or dosages due to inadequate or unclear explanations. Graphic organizers are tools that can help improve comprehension of medical guidelines.Objectives: To assess the effectiveness of using designed graphic organizers to enhance comprehension of medical guidelines.Methods: A prospective randomized controlled study was conducted at Soroka University Medical Center between 2015 and 2017. Parents of children aged 1-7 years, admitted for asthma exacerbation requiring the use of an inhaler with a spacer or for febrile convulsion requiring rectal diazepam, were enrolled. Participants were randomly assigned to receive instructions through a graphic organizer (intervention group) or plain text (control group). An assessment form was administered to evaluate the understanding of the correct steps for using the inhaler with a spacer or administering rectal diazepam. A follow-up telephone assessment was conducted after 30-60 days to evaluate recollection.Results: Seventy-four parents with similar demographic characteristics were enrolled (intervention group [38], control group [36]). There was no significant difference in comprehension between the two groups when using medical guidelines for the two interventions. However, there was a correlation between maternal education level and long-term recollection, with an average score of 24%, 42%, and 48% among mothers with less than 8 years, 8-12 years, and over 12 years of education, respectively (P = 0.004).Conclusions: The use of graphic organizers did not improve parent comprehension of pediatric medical guidelines. However, long-term recollection was positively correlated with maternal education level.","PeriodicalId":50268,"journal":{"name":"Israel Medical Association Journal","volume":"27 3","pages":"153-158"},"PeriodicalIF":1.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Effect of Consanguineous Marriage on the Epidemiology of Wilson Disease among Children: A Report from Southern Israel. 近亲婚姻对儿童Wilson病流行病学的影响：一份来自以色列南部的报告。

IF 1.8 4区医学

Israel Medical Association Journal Pub Date : 2025-03-01

Raouf Nassar, Nour Ealiwa, Lior Hassan, Gadi Howard, Rotem Shalev Shamay, Slava Kogan, Nadine Abboud, Baruch Yerushalmi, Galina Ling

{"title":"The Effect of Consanguineous Marriage on the Epidemiology of Wilson Disease among Children: A Report from Southern Israel.","authors":"Raouf Nassar, Nour Ealiwa, Lior Hassan, Gadi Howard, Rotem Shalev Shamay, Slava Kogan, Nadine Abboud, Baruch Yerushalmi, Galina Ling","doi":"","DOIUrl":"","url":null,"abstract":"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.","PeriodicalId":50268,"journal":{"name":"Israel Medical Association Journal","volume":"27 3","pages":"159-164"},"PeriodicalIF":1.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Advancing Pediatric Medicine: Bridging Research and Practice. 推进儿科医学：衔接研究与实践。

IF 1.8 4区医学

Israel Medical Association Journal Pub Date : 2025-03-01

Nechama Sharon

引用次数: 0

C-Reactive Protein Is Associated with Severity in Hospitalized Children with Respiratory Syncytial Virus Bronchiolitis. c反应蛋白与呼吸道合胞病毒毛细支气管炎住院患儿的严重程度相关

IF 1.8 4区医学

Israel Medical Association Journal Pub Date : 2025-03-01

Assaf Adar, Aviv D Goldbart, Nitzan Burrack, Neta Geva, Bracha Cohen, Inbal Golan-Tripto

{"title":"C-Reactive Protein Is Associated with Severity in Hospitalized Children with Respiratory Syncytial Virus Bronchiolitis.","authors":"Assaf Adar, Aviv D Goldbart, Nitzan Burrack, Neta Geva, Bracha Cohen, Inbal Golan-Tripto","doi":"","DOIUrl":"","url":null,"abstract":"Background: Acute bronchiolitis, primarily caused by respiratory syncytial virus (RSV), is the leading cause of hospitalization in young children. Despite international guidelines supporting clinical diagnosis, laboratory evaluations are often conducted with limited validity.Objectives: To evaluate the association between C-reactive protein (CRP) serum levels on admission and disease severity in children hospitalized due to RSV bronchiolitis.Methods: This retrospective cohort study included children (0-24 months old) who were hospitalized due to RSV bronchiolitis (2018-2022), CRP levels taken at admission.Results: We included 1874 children (mean age of 6.7 months, 59% males); median CRP level 1.92 mg/dl. Children with elevated CRP (> 1.92 mg/dl) were significantly older (5.1 vs. 3.8 months, P < 0.001) and had higher rates of pneumonia (9.4% vs. 4.3%, P < 0.001), urinary tract infection (UTI), (2.2% vs. 0.2%, P < 0.001), acute otitis media (AOM) (1.7% vs. 0.2%, P < 0.001), admissions to the pediatric intensive care unit (PICU) (7.4% vs. 3.7%, P < 0.001), antibiotic treatment (49.8% vs. 37.2%, P < 0.001), and longer hospitalizations (3.83 vs. 3.31 days, P < 0.001). Multivariable analysis predicted increased risk for UTI, PICU admission, pneumonia, and longer hospitalization (relative risk 11.6, 2.25, 1.98, 1.44, respectively, P < 0.001). CRP thresholds of 3.51, 1.9, and 2.81 mg/dl for PICU admission, UTI, and pneumonia, were calculated using Youden's index with AUC 0.72, 0.62, and 0.61, respectively.Conclusions: Elevated CRP levels at admission are associated with increased disease severity and higher complication rates in children hospitalized with RSV bronchiolitis.","PeriodicalId":50268,"journal":{"name":"Israel Medical Association Journal","volume":"27 3","pages":"165-171"},"PeriodicalIF":1.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Use of Lung Ultrasound in the Follow-up of Pediatric Patients with Community-acquired Pneumonia. 肺部超声在儿童社区获得性肺炎随访中的应用。

IF 1.8 4区医学

Israel Medical Association Journal Pub Date : 2025-03-01

Vered Nir, Guy Katsenelenbogen, Rima Karabitski, Vered Schichter-Konfino, Adi Klein

{"title":"The Use of Lung Ultrasound in the Follow-up of Pediatric Patients with Community-acquired Pneumonia.","authors":"Vered Nir, Guy Katsenelenbogen, Rima Karabitski, Vered Schichter-Konfino, Adi Klein","doi":"","DOIUrl":"","url":null,"abstract":"Background: Community-acquired pneumonia (CAP) is a prevalent bacterial infection in children. Lung ultrasound (LUS) is gaining popularity as a diagnostic tool for pneumonia, with the added potential for monitoring disease progression. However, research on the benefits of this modality for monitoring disease progression remains limited.Objectives: To categorize the follow-up sonographic findings of lung inflammation in pediatric patients performed 10-14 days after being diagnosed with CAP.Methods: We conducted a prospective observational study of children aged 0-18 years, diagnosed with CAP between 2020 and 2022. LUS findings at the time of diagnosis and 10-14 days later were recorded and documented.Results: In total, 47 children were recruited, and 22 were included in the analysis. At the time of diagnosis, 20 patients (90%) had B-lines. Air bronchograms were found in all patients, and consolidation findings were observed in seven of the examined patients (32%). At the follow-up LUS 10-14 days later, B-lines were observed in six patients (27%). Air bronchograms were observed in eight patients, and consolidation findings were observed in six (27%). In 13 patients (59%), the follow-up LUS was completely normal. These patients were younger and had lower body weights. Pathological findings persisted in 41% of the patients.Conclusions: For most patients, LUS demonstrated a resolution. Further large-scale studies are needed to validate the findings and determine the role of LUS in pediatric CAP.","PeriodicalId":50268,"journal":{"name":"Israel Medical Association Journal","volume":"27 3","pages":"172-176"},"PeriodicalIF":1.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Association Between Red Blood Cell Distribution Width at Admission and Early Mortality in Acute Pancreatitis. 入院时红细胞分布宽度与急性胰腺炎早期死亡率的关系。

IF 1.8 4区医学

Israel Medical Association Journal Pub Date : 2025-02-01

Shafiq Z Azzam, Itai Ghersin, Maya Fischman, Adi Elias, Zaher S Azzam, Wisam H Abboud

{"title":"The Association Between Red Blood Cell Distribution Width at Admission and Early Mortality in Acute Pancreatitis.","authors":"Shafiq Z Azzam, Itai Ghersin, Maya Fischman, Adi Elias, Zaher S Azzam, Wisam H Abboud","doi":"","DOIUrl":"","url":null,"abstract":"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.","PeriodicalId":50268,"journal":{"name":"Israel Medical Association Journal","volume":"27 2","pages":"87-91"},"PeriodicalIF":1.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0