Israel Medical Association Journal最新文献

A Rare Cause of Respiratory Distress in a 1-month-old Infant.

IF 1.8 4区医学

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

Gavriel Hain, Micha Aviram, Aviva Levitas, Hana Krymko, Aviv Goldbart, Inbal Golan-Tripto

引用次数: 0

An 11-Year-Old Patient with Anorexia Nervosa Presenting with Severe Clinical and Laboratory Deterioration: A Case Report.

IF 1.8 4区医学

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

Mai Shiber, Nadav Shalev, Maor Leibzon, Nechama Sharon

引用次数: 0

Molybdenum Cofactor Deficiency Type A disease in Northern Israel.

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

Short Stature as a Diagnostic Indicator for Children with Gaucher Disease.

IF 1.8 4区医学

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

Shoshana Revel-Vilk, Ari Zimran, Aya Abramov, David Strich

引用次数: 0

Inborn Errors of Immunity: A Fascinating and Ever-Evolving Field Advancing Medicine.

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.

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?

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.

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.

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.

IF 1.8 4区医学

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

Nechama Sharon

引用次数: 0