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[Early diagnosis of neurodevelopmental disorders (NDD)]. [早期诊断神经发育障碍(NDD)]。
Pub Date : 2025-08-19
Håkan Odeberg, Pernilla Ackermark, Ulf Andersson, Carina van Geijt, Kent Jonsson, Björn Mårtensson

Comorbidity between NDD and chronic pain is common. For some pain patients, the NDD has not yet been diagnosed. Referral for diagnosis may interrupt and delay pain rehabilitation, which suggests that integration of such assessment could be beneficial. In 2022-2023 the Regional Pain Rehabilitation unit of Nyköping ran a project in which an external psychologist performed diagnostic assessments, together with the unit's psychiatrist, of 20 patients with a suspected diagnosis of NDD. Nine patients were diagnosed with autism spectrum disorders and 10 with ADD/ADHD. At follow-up, a majority of these patients reported significantly improved overall health and well-being. For these patients, what dominated the clinical picture were the secondary consequences of their underlying developmental disorders, and the energy expended to compensate for them. How to address the needs of these patients is an important field of research.

NDD和慢性疼痛的合并症很常见。对于一些疼痛患者,NDD尚未被诊断出来。转诊诊断可能会中断和延迟疼痛康复,这表明整合这种评估可能是有益的。在2022-2023年期间,Nyköping的区域疼痛康复部门开展了一个项目,由一名外部心理学家与该部门的精神科医生一起对20名疑似NDD的患者进行了诊断评估。9名患者被诊断为自闭症谱系障碍,10名患者被诊断为ADD/ADHD。在随访中,大多数患者报告整体健康和幸福感显著改善。对这些患者来说,主导临床图景的是他们潜在发育障碍的继发性后果,以及为弥补这些后果而消耗的能量。如何满足这些患者的需求是一个重要的研究领域。
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引用次数: 0
Fenomenet klonal hematopoes av obestämd potential (CHIP).
Pub Date : 2025-08-18
Johanna Ungerstedt
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引用次数: 0
[An increase in reported cases of tularemia in Region Stockholm]. [斯德哥尔摩地区报告的兔热病病例增加]。
Pub Date : 2025-08-12
Lana Othman, Joanna Nederby Öhd, Charlotta Rydgård, Hedvig Glans

Tularemia is a zoonotic disease caused by the contagious bacterium Francisella tularensis. In Sweden, the infection is primarily transmitted through mosquito bites with peak season from August to October. Depending on the infection site, tularemia has six different clinical variants. Patients are often presented with the ulceroglandular form - fever, inoculation site ulcer and regional lymphadenopathy - but oculoglandular, glandular, oropharyngeal, pneumonic and typhoidal forms also occur. Historically endemic to northern Sweden, tularemia has spread further south since the first case was described in 1931. Due to clinical diversity and sometime prolonged course, the awareness of tularemia  is important for multiple medical specialties. The diagnosis should be considered among patients with typical symptoms in Sweden during peak season.

土拉菌病是一种由传染性细菌土拉菌引起的人畜共患疾病。在瑞典,感染主要通过蚊虫叮咬传播,高峰期为8月至10月。根据感染部位的不同,土拉菌病有六种不同的临床变体。患者通常表现为腺性溃疡形式——发烧、接种部位溃疡和局部淋巴结病——但也会出现眼腺、腺、口咽、肺炎和伤寒形式。兔热病历来是瑞典北部的地方病,自1931年发现第一例病例以来,已进一步向南传播。由于临床的多样性,有时病程延长,对兔热病的认识对多个医学专业都很重要。诊断应考虑在瑞典的高峰期有典型症状的患者。
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引用次数: 0
[Chronic coronary syndrome - new ESC guidelines]. 慢性冠状动脉综合征——新的ESC指南。
Pub Date : 2025-08-11
Kasper Andersen, Sara Bentzel, Ellinor Bergdahl, Josef Dankiewicz, Ludvig Elfwén, Elin Falås, Moa Simonsson, Anna Holm

The European Society of Cardiology has released new 2024 guidelines on chronic coronary syndrome. These guidelines emphasize that patients with this condition should be actively assessed and treated to reduce the risk of future events. Key updates include the introduction of a risk factor-based clinical probability model to aid in this process. Furthermore, the guidelines stress that coronary CT angiography is recommended as the first-line diagnostic method for patients with a low to moderate probability of coronary artery disease. In cases of moderate to high probability, functional tests such as stress echocardiography, PET-CT, or perfusion MRI are advised, depending on availability. The guidelines recommend that all patients with chronic coronary artery disease receive high-intensity lipid-lowering treatment, with a target LDL level of less than 1.4 mmol/L. For patients with non-obstructive coronary artery disease who continue to experience persistent angina pectoris, further investigation of the microcirculation is recommended.

欧洲心脏病学会发布了新的2024年慢性冠状动脉综合征指南。这些指南强调,患有这种疾病的患者应该积极评估和治疗,以减少未来事件的风险。关键的更新包括引入基于风险因素的临床概率模型来帮助这一过程。此外,指南还强调,对于低至中等概率的冠状动脉疾病患者,推荐冠状动脉CT血管造影作为一线诊断方法。在中度至高概率的情况下,建议进行功能检查,如应激超声心动图、PET-CT或灌注MRI,视情况而定。指南建议所有慢性冠状动脉疾病患者接受高强度降脂治疗,目标LDL水平低于1.4 mmol/L。对于非阻塞性冠状动脉疾病患者持续出现持续性心绞痛,建议进一步检查微循环。
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引用次数: 0
[An updated review of The Swedish National Patient Register as a data source]. [对瑞典国家患者登记作为数据来源的最新回顾]。
Pub Date : 2025-08-08
Ola Olén, Åsa H Everhov

The Swedish National Patient Register (NPR) is vital for epidemiological research. A 2010 review assessed the validity of inpatient diagnoses, but outpatient data were excluded. A recent review in the European Journal of Epidemiology examined validation studies for inpatient diagnoses post-2010 and outpatient data since 2001. Across 89 publications, median positive predictive value (PPV) was 84% for diagnoses (range: 18-100%) and 97% for surgical codes. Sensitivity was lower, median 73% (range: 45-80%). PPV and sensitivity varied depending on diagnosis, coding, reference standard, and data source. Different diagnostic criteria are needed depending on research question. Combining NPR with other registers can enhance accuracy. Limitations include incomplete outpatient data in early years, gaps in private healthcare reporting, and insufficient coverage of certain medical codes. Despite this, the NPR remains a reliable and central data source for medical research when limitations are considered.

瑞典国家患者登记(NPR)对流行病学研究至关重要。2010年的一项综述评估了住院诊断的有效性,但排除了门诊数据。《欧洲流行病学杂志》(European Journal of Epidemiology)最近的一篇综述检查了2010年后住院患者诊断和2001年以来门诊患者数据的验证研究。在89份出版物中,诊断的中位阳性预测值(PPV)为84%(范围:18-100%),手术代码的中位阳性预测值为97%。敏感性较低,中位数为73%(范围:45-80%)。PPV和灵敏度因诊断、编码、参考标准和数据源而异。不同的研究问题需要不同的诊断标准。将NPR与其他寄存器相结合可以提高精度。限制包括早期不完整的门诊数据,私人医疗报告的差距,以及某些医疗法规的覆盖范围不足。尽管如此,当考虑到局限性时,NPR仍然是医学研究的可靠和中心数据来源。
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引用次数: 0
[Familial hyperkalemic hypertension - a case report with patients in three generations]. [家族性高钾血症高血压——三代患者一例报告]。
Pub Date : 2025-08-05
Mikael Oscarson, Lisa Juntti-Berggren

Recent advancements in sequencing technologies have enabled both the identification of many monogenic diseases and the development of precision medicine, enabling tailored therapies for many patients. This case presentation describes four patients across three generations diagnosed with hyperkalemia of unclear origin. Genetic testing revealed a pathogenic variant in the KLHL3 gene, linked to familial hyperkalemic hypertension. Treatment with hydrochlorothiazide essentially normalised the potassium levels for all patients, and the oldest patient, with a resistant hypertension since a young age, had a dramatic improvement in blood pressure. This case underscores the importance of a detailed family history combined with genetic testing, which can lead to tailored and effective treatments.

最近测序技术的进步使许多单基因疾病的识别和精确医学的发展成为可能,为许多患者提供量身定制的治疗。本病例介绍了四名患者跨越三代被诊断为高钾血症的原因不明。基因检测显示了KLHL3基因的致病变异,与家族性高钾血症高血压有关。氢氯噻嗪治疗基本上使所有患者的钾水平恢复正常,年龄最大的患者,从小就患有顽固性高血压,血压有了显著改善。这个病例强调了详细的家族史与基因检测相结合的重要性,这可以导致量身定制和有效的治疗。
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引用次数: 0
[Gas embolism during endoscopic procedures]. [内窥镜手术中的气体栓塞]。
Pub Date : 2025-08-05
Marcus Fredriksson Sundbom, Anna Molin, Roberto Valente, Roman A'roch

Endoscopic retrograde cholangiopancreatography (ERCP) is associated with gas embolism, which is often fatal when observed through clinical signs. Here we report the only case, to our knowledge, of a survivor of paradoxal gas embolism with a patent foramen ovale during ERCP. The patient suffered respiratory collapse with unmeasurable end-tidal carbon dioxide and severe hypoxemia. Total circulatory collapse was imminent, as demonstrated by severe hypotension and bradycardia with prominent S-T depressions on ECG. Transesophageal echocardiography (TEE) showed massive amounts of biventricular gas bubbles and a patent foramen ovale. After resuscitation with epinephrine, norepinephrine, crystalloid fluid boluses and a 100% fraction of inspired oxygen the patient's condition improved, and he was transferred to the intensive care unit. Repeat TEE showed that the gas bubbles had disappeared, and the patient was extubated that same evening. No neurological deficits were found before discharge. We want to highlight the importance of keeping gas embolism in mind when performing endoscopic procedures.

内窥镜逆行胆管造影(ERCP)与气体栓塞有关,通过临床症状观察往往是致命的。在这里,我们报告唯一的情况下,据我们所知,幸存者的矛盾气体栓塞与卵圆孔未闭期间ERCP。患者呼吸衰竭,伴有无法测量的潮末二氧化碳和严重的低氧血症。完全循环衰竭迫在眉睫,心电图显示严重的低血压和心动过缓,伴有明显的S-T下降。经食道超声心动图(TEE)显示大量双心室气泡和卵圆孔未闭。在用肾上腺素、去甲肾上腺素、晶体液体丸和100%吸氧复苏后,病人的病情好转,他被转移到重症监护室。重复TEE显示气泡已消失,患者于当晚拔管。出院前未发现神经功能缺损。我们想强调在进行内窥镜手术时牢记气体栓塞的重要性。
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引用次数: 0
[Increased use of antipsychotics to children and adolescents - monitoring of effect and safety is needed]. [增加儿童和青少年抗精神病药物的使用——需要监测其效果和安全性]。
Pub Date : 2025-08-05
Elin Dahlén, Anders Sundström, Sverre Wikström, Ida Walles, Håkan Jarbin, Elin Kimland

Neuroleptics are important for the treatment of serious psychiatric conditions. Few neuroleptics are approved for use in children and adolescents. Side effects are common, and children experience them more often than adults, particularly metabolic effects. The number of prescriptions of neuroleptics to children aged 5-17 years has increased (from 5 to 23 per 1000 children during 2004-2023). Most children were prescribed second-generation antipsychotics, which is in accordance with national recommendations. The most prescribed drugs were risperidone and aripiprazole, but regional differences exist. Children treated with neuroleptics need to be monitored more frequently, but adequate follow-up measures are used according to our survey of 85 prescribers. There is a need for an in-depth analysis of children's use of antipsychotics and the risk of serious side effects.

抗精神病药对治疗严重精神疾病很重要。很少有抗精神病药被批准用于儿童和青少年。副作用很常见,儿童比成人更容易出现,尤其是代谢方面的影响。5-17岁儿童的抗精神病药处方数量有所增加(2004-2023年期间,每1000名儿童从5名增加到23名)。大多数儿童的处方是第二代抗精神病药物,这与国家建议一致。处方用药最多的是利培酮和阿立哌唑,但也存在地区差异。接受抗精神病药治疗的儿童需要更频繁地监测,但根据我们对85名处方者的调查,采取了适当的随访措施。有必要对儿童使用抗精神病药物及其严重副作用的风险进行深入分析。
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引用次数: 0
[Acute suppurative thyroiditis: A case report]. 急性化脓性甲状腺炎1例。
Pub Date : 2025-08-04
Susanna Hofdam, Daniel Bengtsson, Etsko Engel Blaauwwiekel, Pär Wanby

Acute suppurative thyroiditis (AST) is an extremely rare and potentially life-threatening condition, which can at first be difficult to differentiate from the far more common subacute thyroiditis (SAT). AST is most often described in patients with immunosuppression, or in patients with a pre-existing thyroid disease or anatomical structural defect, such as a pyriform sinus fistula. Here, we describe a case where a 37-year-old immunocompromised woman presented with intermittent fever, fatigue, erythema and tenderness of the anterior neck. TSH was suppressed and free T3 and T4 were elevated. She was prescribed Prednisolone 30 mg due to suspicion of SAT, but her symptoms from the anterior neck escalated. She developed a thyroid abscess, and was successfully treated with surgical drainage and oral antibiotics.

急性化脓性甲状腺炎(AST)是一种极其罕见且可能危及生命的疾病,起初很难与亚急性甲状腺炎(SAT)区分开来。AST最常见于免疫抑制患者,或既往存在甲状腺疾病或解剖结构缺陷(如梨状窦瘘)的患者。在这里,我们描述了一个37岁的免疫功能低下的妇女出现间歇性发烧,疲劳,红斑和颈前压痛的情况。TSH被抑制,游离T3和T4升高。由于怀疑SAT,给她开了强的松龙30毫克,但她的前颈部症状升级。她出现了甲状腺脓肿,并通过手术引流和口服抗生素成功治疗。
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引用次数: 0
[Aggregated statistics from Swedish health registries has been used for evaluating compliance with a contraindication]. [来自瑞典健康登记处的汇总统计数据被用于评估禁忌症的遵守情况]。
Pub Date : 2025-08-01
Karl-Mikael Kälkner, Anders Sundström, Rickard Ljung

The daily regulatory work with pharmacovigilance includes requirements of risk minimisation measures (RMM). However, when it comes to evaluating the efficacy of RMM, methodological issues have been raised regarding commonly used surveys, and the updated Guideline on good pharmacovigilance practices, Module XVI Addendum II, proposes using mixed methods when RMM outcome is evaluated.    The Swedish Medical Products Agency has used aggregated national register data to evaluate compliance to the contraindication for cyproterone in patients with previous or current meningioma. Among 13 036 patients diagnosed with meningioma during the period 2005-2022, 21 to 63 individuals had filled a prescription of cyproterone ever after diagnosis. This is regarded as a resource-efficient method to assess compliance to contraindications, although anonymous aggregated statistics entail an uncertainty of measurement because the data must not be granular enough to be attributed to single individuals.

药物警戒的日常监管工作包括风险最小化措施(RMM)的要求。然而,当涉及到评估RMM的疗效时,已经提出了关于常用调查的方法学问题,更新的良好药物警戒实践指南模块十六附录二建议在评估RMM结果时使用混合方法。瑞典医疗产品管理局使用汇总的国家登记数据来评估既往或当前脑膜瘤患者对环丙孕酮禁忌症的依从性。在2005-2022年期间诊断为脑膜瘤的13036例患者中,21至63例患者在诊断后服用环丙孕酮。这被认为是一种评估禁忌症依从性的资源效率方法,尽管匿名汇总统计带来了测量的不确定性,因为数据必须不够细,不能归因于单个个体。
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引用次数: 0
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