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[TYPE 1 DIABETES MELLITUS AND MONOGENIC DIABETES - CAN THE TWO WALK TOGETHER?] 1型糖尿病和单基因糖尿病——两者能共存吗?]
Pub Date : 2025-05-01
Nirit Aviran Barak

Introduction: This is a case of a 35-year-old man, diagnosed with type 1 diabetes mellitus (DM) at the age of 16 after hospitalization due to diabetic ketoacidosis (DKA) and positive glutamic acid decarboxylase (GAD) antibodies. His diabetes was never well controlled and there is a strong family history of diabetes and prediabetes as described. He asked to be checked for monogenic diabetes, so we conducted an exome panel for this condition. Surprisingly, the genetic testing was clearly positive for the heterozygote Glucokinase (GCK) gene, a highly pathogenic maturity-onset diabetes of the young (MODY) type 2. All family members were referred to complete exome panel, which is not yet complete. In the literature the author found a few similar case reports. The genetic defect in MODY2 diabetes is in the phosphorylation of glucose to glucose 6 phosphate which acts as a glucose sensor; this causes insulin secretion in higher glucose levels.

这是一个35岁的男性病例,在16岁时因糖尿病酮症酸中毒(DKA)和谷氨酸脱羧酶(GAD)抗体阳性住院后被诊断为1型糖尿病(DM)。他的糖尿病从未得到很好的控制,并且有糖尿病和前驱糖尿病的家族史。他要求检查是否有单基因糖尿病,所以我们对这种情况进行了外显子组检查。令人惊讶的是,基因检测显示杂合子葡萄糖激酶(GCK)基因明显阳性,这是一种高致病性成熟型糖尿病(MODY) 2型。所有家庭成员均被纳入完整的外显子组小组,该小组尚未完成。在文献中,笔者发现了一些类似的病例报告。MODY2型糖尿病的遗传缺陷是葡萄糖磷酸化为葡萄糖6磷酸,葡萄糖6磷酸作为葡萄糖传感器;这会导致胰岛素分泌在较高的葡萄糖水平。
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引用次数: 0
[GROUP COGNITIVE PROCESSING THERAPY - CPT - A CASE STUDY]. [群体认知加工疗法- CPT -一个案例研究]。
Pub Date : 2025-05-01
Hadar Marom Harel, Shahaf Hampel, Orit Yaron Raviv, Tal Weizman

Introduction: Cognitive Processing Therapy (CPT) is one of only a few evidence based therapies that was developed and proven effective for the treatment of Post-Traumatic Stress Disorder (PTSD). Therapy can be administered in an individual or group format. Group CPT was offered in our clinic prior to the onset of the Iron Swords war. Among the participants was G., who was diagnosed with PTSD following an injury that occurred during his military service.

Aims: The aim of this report is to present group CPT through the experience of one participant who was diagnosed with PTSD due to a military injury and to discuss the potential utility of such a group to treat PTSD secondary to the Iron Swords war.

Background: G was referred to treatment due to decreased functioning and active symptoms of PTSD that persisted several years after his injury. Despite his reservations, he participated in most meetings of group therapy that was based on the CPT protocol.

Discussion: In this time of war where trauma is abundant, a group model based on a protocol that was developed specifically to treat PTSD may be useful. In the case presented, group based CPT partially improved PTSD symptoms in a participant with a military based injury. Since then our clinic continues to offer group based CPT therapy which was also provided to a population of survivors of the massacre that took place at the onset of the Iron Swords war.

引言:认知加工疗法(CPT)是为数不多的基于证据的治疗方法之一,它被开发出来并被证明对治疗创伤后应激障碍(PTSD)有效。治疗可以以个人或团体的形式进行。在铁剑战争开始之前我们诊所就提供了集体CPT。参与者中有G.,他在服兵役期间受伤后被诊断出患有创伤后应激障碍。目的:本报告的目的是通过一名因军事伤害而被诊断为PTSD的参与者的经历来呈现小组CPT,并讨论这种小组治疗铁剑战争继发的PTSD的潜在效用。背景:G因创伤后功能下降和活跃的创伤后应激障碍症状持续数年而接受治疗。尽管他有所保留,但他参加了大多数基于CPT协议的团体治疗会议。讨论:在这个创伤丰富的战争时期,一个基于专门治疗创伤后应激障碍的协议的团体模型可能是有用的。在本案例中,基于小组的CPT部分改善了军事创伤参与者的创伤后应激障碍症状。从那时起,我们的诊所继续提供以小组为基础的CPT治疗,也为铁剑战争开始时大屠杀的幸存者提供了这种治疗。
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引用次数: 0
[PLASTICS AND REFRACTION - EXPO - ISRAEL, MAY 28, 2024]. [塑料与折射-以色列博览会,2024年5月28日]。
Pub Date : 2025-05-01
Nir Erdinest, Hadas Kfir-Ruzal

Introduction: PLASTICS AND REFRACTION - EXPO - ISRAEL, MAY 28, 2024.

简介:2024年5月28日,以色列塑料与折射博览会。
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引用次数: 0
[ARTIFICIAL INTELLIGENCE TOOLS AND THEIR USE IN MEDICINE CHATGPT - NOT THE ONLY PLAYER IN THE ARENA]. (人工智能工具及其在医学领域的应用——并不是这个领域唯一的参与者)。
Pub Date : 2025-05-01
Zvi Weizman, Or Degany, Yehuda Shoenfeld

Introduction: In recent years, there has been a remarkable growth in the development and use of artificial intelligence tools in medicine based on large language models. This review will describe the main existing tools and their various applications for medical staff and patients. Despite its popularity, we will show that ChatGPT is not the only tool and that other tools are sometimes preferable. We will review research comparisons between different tools' effectiveness in various tasks. It will be shown that these tools lack specific performances, such as accuracy and reliability in providing information, understanding clinical context, and making diagnoses. The number of studies on these topics is small, and sometimes their presented results contradict each other. Additional quality research is needed to characterize and improve these tools and designate specific tools for different medical uses. Despite the many advantages and enormous potential inherent in these models, they should be used cautiously, as they only aid the treating physician and do not replace his knowledge, professional experience, and human judgment.

近年来,基于大型语言模型的人工智能工具在医学领域的开发和使用有了显著的增长。本文将介绍现有的主要工具及其在医务人员和患者中的各种应用。尽管ChatGPT很流行,但我们将说明它不是唯一的工具,有时其他工具更可取。我们将回顾不同工具在不同任务中的有效性之间的研究比较。这些工具缺乏特定的性能,例如在提供信息、理解临床环境和做出诊断方面的准确性和可靠性。关于这些主题的研究数量很少,有时他们提出的结果相互矛盾。需要进行更多的高质量研究,以表征和改进这些工具,并指定用于不同医疗用途的特定工具。尽管这些模型有许多优点和巨大的潜力,但它们应该谨慎使用,因为它们只能帮助治疗医生,而不能取代他的知识、专业经验和人类的判断。
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引用次数: 0
[ARTIFICIAL INTELLIGENCE-ASSISTED LITERATURE REVIEW: A CASE STUDY IN FUMARATE HYDRATASE-DEFICIENT RENAL CELL CARCINOMA]. [人工智能辅助文献综述:富马酸水合酶缺陷肾细胞癌病例研究]。
Pub Date : 2025-05-01
Dolev Vaknin, Or Degany, Rotem Sisso-Avron

Introduction: Fumarate hydratase-deficient renal cell carcinoma (FHdRCC) is a rare and aggressive form of kidney cancer that presents significant therapeutic challenges. Due to its rarity, treatment decisions often rely on comprehensive literature reviews to identify potential therapeutic options. This article presents a case of a 37-year-old patient with metastatic FHdRCC who showed partial response to Nivolumab but experienced persistent lymphatic involvement and symptoms requiring ongoing intervention. The clinical team sought to evaluate alternative combination therapies through a literature review. Elicit, an AI-powered research assistant, was employed to structure the literature review process through an automated analysis of scientific papers. This case served as a test of Elicit's capabilities in synthesizing treatment options for rare cancers, compared to traditional research methodologies. The platform demonstrated significant limitations in its search capabilities due to restricted database access. However, it showed efficiency in analyzing provided papers and organizing clinical data by key categories. These findings suggest that while Elicit may serve as a helpful support tool for literature analysis, it is best used as a complement to traditional search methods, with careful verification of its output by clinical experts. Disclosures: Dolev Vaknin, Or Degany, Rotem Sisso-Avron, and Prof. Sharon Einav are employed by Medint Medical Intelligence, which conducted the literature review that served as the basis for this paper.

富马酸水合酶缺陷型肾细胞癌(FHdRCC)是一种罕见的侵袭性肾癌,其治疗具有重大挑战。由于罕见,治疗决策往往依赖于全面的文献综述,以确定潜在的治疗方案。本文报道了一例37岁的转移性FHdRCC患者,他对Nivolumab有部分反应,但经历了持续的淋巴受累和需要持续干预的症状。临床小组试图通过文献回顾来评估替代联合疗法。人工智能研究助理Elicit通过对科学论文的自动分析来构建文献审查过程。与传统的研究方法相比,这个案例是对Elicit在罕见癌症的综合治疗方案方面的能力的考验。由于数据库访问受限,该平台在搜索能力方面表现出明显的局限性。然而,它在分析提供的论文和按关键类别组织临床数据方面表现出效率。这些发现表明,虽然Elicit可以作为文献分析的有用支持工具,但它最好作为传统搜索方法的补充,并由临床专家仔细验证其输出。披露:Dolev Vaknin, Or Degany, Rotem Sisso-Avron和Sharon Einav教授受雇于Medint Medical Intelligence,该公司进行了文献综述,作为本文的基础。
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引用次数: 0
[OSGOOD-SCHLATTER DISEASE: DIAGNOSIS AND MANAGEMENT]. [奥斯古德-舒特病:诊断与治疗]。
Pub Date : 2025-05-01
Raphael Israeli, Dana Avraham, Amir Herman, Lev Lapidos, Maria Oulianski

Introduction: Osgood-Schlatter's disease is a type of injury that occurs in children and adolescents due to overuse. The condition is characterized by pain, swelling, and inflammation in the region of the tibial tuberosity. Running and jumping intensively during periods of accelerated skeletal growth is associated with repeated and prolonged tensile forces that cause the disease. Initial inflammation turns into partial avulsion of cartilage from the tibial tuberosity, followed by the formation of ossicles in more severe cases. In most cases, OSD is managed conservatively by restricting strenuous exercise, prescribing analgesics, performing cryotherapy, engaging in physical therapy, and performing therapeutic exercises emphasizing strength and flexibility. In extreme cases displaying no improvement after skeletal maturity, surgical intervention is reserved as a last resort.

简介:奥斯古德-施洛特病是儿童和青少年因过度使用而发生的一种损伤。这种疾病的特点是胫骨结节区域疼痛、肿胀和炎症。在骨骼加速生长期间,剧烈的跑步和跳跃与引起疾病的反复和长时间的拉伸力有关。最初的炎症转变为胫骨结节软骨的部分撕脱,在更严重的情况下会形成小骨。在大多数情况下,OSD通过限制剧烈运动、开止痛药、进行冷冻治疗、进行物理治疗和进行强调力量和柔韧性的治疗性锻炼来保守治疗。在骨骼成熟后没有改善的极端情况下,手术干预是最后的手段。
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引用次数: 0
[The Pain of Compassion Fatigue]. [同情疲劳的痛苦]。
Pub Date : 2025-05-01
Joshua Shemer

Introduction: "The Pain of Compassion Fatigue". Author: Dr. Eythan Hyam.

导言:“同情疲劳的痛苦”。作者:Eythan Hyam博士。
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引用次数: 0
[TENNIS ELBOW]. (网球肘)。
Pub Date : 2025-05-01
Ruth Luttwak, Gershon Zinger

Introduction: Tennis elbow (lateral epicondylitis) is characterized by pain at the origin of the extensor carpi radialis brevis (ERCB) muscle from the lateral epicondyle of the humerus. A connection was found between tennis elbow and repetitive load in this area. In patients who suffer from elbow pain, tennis elbow is the most common cause, affecting 1-3% of the adult population each year. The diagnosis of tennis elbow is mainly clinical, based on medical history and physical examination. There are several possible treatments ranging from anti-inflammatory drugs and physiotherapy to various local injections (steroids, hyaluronic acid, etc.) and surgical treatment with debridement or release of the ECRB.

简介:网球肘(外侧上髁炎)的特征是肱骨外侧上髁处桡侧腕短伸肌(ERCB)肌肉起源处疼痛。网球肘与该区域的重复负荷之间存在联系。在患有肘部疼痛的患者中,网球肘是最常见的原因,每年影响1-3%的成年人。网球肘的诊断主要是临床诊断,基于病史和体格检查。有几种可能的治疗方法,从抗炎药物和物理治疗到各种局部注射(类固醇,透明质酸等)和手术治疗清创或释放ECRB。
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引用次数: 0
[Congenital Toxoplasmosis, What is Important for Israeli Doctors to Know?] 【先天性弓形虫病,以色列医生需要了解什么?】]
Pub Date : 2025-05-01
Michal Meir, Ido Solt

Introduction: Congenital Toxoplasmosis, What is Important for Israeli Doctors to Know?

导读:先天性弓形虫病,以色列医生需要了解什么?
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引用次数: 0
[SPONTANEOUS RUPTURE OF A RENAL ANGIOMYOLIPOMA]. [肾脏血管平滑肌脂肪瘤自发性破裂]。
Pub Date : 2025-05-01
Daniel Haim, Gil Bachar

Introduction: SPONTANEOUS RUPTURE OF A RENAL ANGIOMYOLIPOMA.

简介:肾脏血管平滑肌脂肪瘤自发性破裂。
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引用次数: 0
期刊
Harefuah
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