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The heart of the matter: a re-iteration of the role of the social determinants of health in addressing health inequity in Central Australia. 问题的核心:重申健康的社会决定因素在解决澳大利亚中部地区健康不公平问题中的作用。
IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-26 DOI: 10.1111/imj.16548
William Naughton, Angus A Baumann, Kirsten Neal, Dan Wilson, Richard Johnson, Anna Holwell

The persisting life-expectancy 'gap' between First Nations and non-First Nations Australians is fundamentally driven by the social determinants of health. These include income and social protection, access to adequate housing and food security, among others. These factors are particularly prominent in Central Australia. Inadequate housing has led to some of the highest rates of Streptococcus pyogenes infection in the world, which in turn drives an extremely high prevalence of rheumatic heart disease. Food insecurity and inadequate social protection manifesting as energy insecurity result in inadequate nutrition and have resulted in a huge burden of diabetes in Central Australia. These factors, combined with social exclusion, racism and the pervasive effect of colonisation, also drive a high rate of alcohol misuse. Only by prioritising equity in these 'social determinants' and emphasising the importance of First Nations leadership in formulating and implementing solutions will health inequity be addressed.

原住民与非原住民澳大利亚人之间持续存在的预期寿命 "差距 "从根本上说是由健康的社会决定因素造成的。这些因素包括收入和社会保障、获得适足住房和食品安全等。这些因素在澳大利亚中部尤为突出。住房不足导致化脓性链球菌感染率居世界前列,进而导致风湿性心脏病发病率极高。粮食不安全和社会保护不足(表现为能源不安全)导致营养不良,并给澳大利亚中部地区带来了巨大的糖尿病负担。这些因素,加上社会排斥、种族主义和殖民化的普遍影响,也导致酗酒率居高不下。只有优先考虑这些 "社会决定因素 "中的公平问题,并强调原住民在制定和实施解决方案中发挥领导作用的重要性,才能解决健康不公平问题。
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引用次数: 0
The current situation with H5N1 avian influenza and the risk to humans H5N1 禽流感的现状及对人类的风险。
IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-25 DOI: 10.1111/imj.16550
Michelle Wille, Ian G. Barr
<p>Influenza in humans is mainly caused by two different viruses: influenza A virus (IAV) and influenza B virus. Beyond humans, IAV infects a broader range of species, including avian, equine, porcine and canine species. In contrast, influenza B virus almost exclusively infects humans. Avian IAVs are categorised in two main ways: by subtype and by pathotype. Subtyping is based on the diversity of the two major surface proteins: haemagglutinin (HA) and neuraminidase (NA). These proteins are highly diverse, with 19 HA subtypes and 11 NA subtypes, where the HA-NA combination added together make up the basic identity tag, or subtype, for example, H1N1 and H5N1. To date, only three IAV subtypes have emerged in human populations as pandemic or epidemic viruses over the last century (H1N1, H3N2 and H2N2). Within some HA subtypes, such as H5, viruses may be further characterised into clades based on genetic differences in their HA, somewhat similar to “variants” in SARS-CoV-2.</p><p>Pathotyping is based on pathogenicity in chickens. Low pathogenicity avian influenza viruses, which are frequently found in wild waterbirds, the natural reservoir for these viruses, generally cause no clinical disease in them or other wild birds. Following introduction into poultry, H5 and H7 avian IAVs may evolve and become highly virulent, causing high levels of mortality in poultry (up to 100% in chickens). Consequently, these viruses are referred to as high pathogenicity avian influenza (HPAI) viruses.</p><p>The ancestor of HPAI H5N1 viruses currently causing a global panzootic (animal pandemic) emerged in geese in China in 1996 (referred to as the Goose/Guandong (gs/gd) lineage) and has since evolved into a continuously circulating group of diverse HPAI viruses. Following a series of key events between 2014 and 2020, a subgroup of the HPAI gs/gd H5N1 lineage (known as clade 2.3.4.4b) emerged and spread like wildfire. Since September 2021, the virus has spread globally, with the exception of Oceania (up to August 2024). The host range has also dramatically increased, with more than 400 wild bird species affected,<span><sup>1</sup></span> and as a result of mass mortality events, some avian taxa may never recover.<span><sup>1</sup></span> This virus is also having a substantial impact on the poultry industry. In 2022, more than 130 000 000 chickens died or were culled because of HPAI.<span><sup>2</sup></span> On top of these large-scale mortality events, an enormous diversity (>50 species) of predatory and scavenging mammalian species have been impacted, ranging from foxes to polar bears to house cats.<span><sup>3</sup></span> For most species, infections have only been sporadic; however, in some instances, unprecedented mass mortality events have occurred, such as in pinnipeds (seal and sea lions) in South America.<span><sup>4</sup></span></p><p>In early 2024 this virus entered dairy cows in the USA by an unknown means and has since infected cows in over 195 herds in 1
10 美国疾病控制和预防中心(CDC)的流感风险评估工具(IRAT)采用了其他 IAVs 的数据,根据截至 2024 年 6 月 26 日的信息,将 2.3.4.4b 支系未来的大流行可能性评为 "中度风险"。在动物流感毒株和亚型的风险比较中,与其他 2.3.4.4b 病毒相比,目前在牛中流行的 2.3.4.4b 病毒的出现风险略有增加(但影响不大),但其出现评分仍低于在亚洲家禽中发现的禽 H9 和 H7N9 病毒。2.3.4.4b 病毒在众多哺乳动物中的持续感染令人高度担忧,在水貂、13 翼足类动物4 和奶牛5 中爆发的疫情牵涉到哺乳动物之间的传播。雪貂不仅可以被感染,而且已经证明,这些病毒可以通过与饲养在同一笼子中的天真雪貂的密切接触而传播(并导致疾病),但它们不会通过气溶胶有效地传播给被穿孔屏障隔开的天真雪貂。四项独立研究表明,18 只雪貂中只有 4 只(22%)可通过气溶胶途径从受感染的供体处感染不同的 2.3.4.4b 病毒。这些变化包括:(i) 将受体特异性从禽类型受体改为人类型受体,即将α2.3-连接的硅酸改为α2.6-连接的硅酸;(ii) 提高 HA 的热稳定性和 pH 值稳定性;(iii) 提高病毒在哺乳动物上呼吸道等温条件下的复制能力;(iv) 改变病毒聚合酶复合物的 RNA 转录本表达,从而提高复制能力。这些重要变化之一是作为病毒复制机制一部分的 PB2 蛋白发生了变化。PB2 中的一个氨基酸变化(E627K)会导致聚合酶活性发生变化,从而提高病毒在哺乳动物体内的复制效率。18 有趣的是,E627K 氨基酸变化仅在美国感染 H5N1 病毒的奶牛中罕见发现。PB2 蛋白中其他值得关注的突变已被证明可提高 IAV 在哺乳动物细胞或小鼠中的聚合酶活性,包括 D701N 和 Q591K(存在于在南美洲发现的凤尾鱼体内的病毒中)4 以及 T271A(一种不常见的突变)(2022 年 10 月在西班牙水貂 H5N1 疫情中发现)。除了特定变异外,禽类 IAV 与人类或猪 IAV 混合也可能导致哺乳动物的进一步适应。幸运的是,无论是 2.3.4.4b 型高致病性禽流感病毒,还是其他高致病性禽流感 gs/gd H5Nx 病毒,都没有找到适当的变异或重组组合,使这些病毒充分适应人类,造成大量人类感染,也没有获得从一个感染者有效传播到另一个感染者的能力。在全球范围内,关键是要仔细监测目前在哺乳动物中持续爆发的疫情,以防出现进一步的变异,并定期评估这些病毒的疫苗匹配性、抗病毒药物敏感性、在雪貂模型中的传播能力和结合特异性研究,以及利用 IRAT 等工具评估大流行的出现。在有可能采取控制措施的牛群中,阻止传播至关重要,因为持续传播为可能出现更多适应哺乳动物的变异和传播回禽类种群(已经发生)以及其他物种提供了 "露天 "实验。此外,必须继续评估用于人类的 H5N1 高致病性禽流感病毒,以确保在需要疫苗的情况下,现有候选疫苗病毒与流行毒株保持良好匹配。20 用于家禽和其他牲畜的有效 H5N1 高致病性禽流感疫苗也可能有用,并有可能用于受威胁的、可接触到的野生动物物种的疫苗接种。虽然 H5N1 高致病性禽流感目前未在澳大利亚或新西兰出现,但随候鸟迁徙到达的风险为中度,不确定性很高。在澳大利亚,全国野鸟禽流感小组负责全国协调监测工作,并根据澳大利亚禽流感计划(AUSVETPLAN)(https://animalhealthaustralia.com.au/ausvetplan/)采取应对措施。
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引用次数: 0
Pulmonary arterial hypertension: updates and perspective with newer therapies. 肺动脉高压:新疗法的更新与展望。
IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-23 DOI: 10.1111/imj.16515
Jyotika D Prasad, Trevor J Williams, Helen M Whitford

Pulmonary arterial hypertension (PAH) is a rare condition for which a remarkable change has been witnessed in the epidemiology, assessment and treatment landscape over the last three decades. Well-established registries from the Western world have not only highlighted the shift in the epidemiology to an older, more comorbid cohort but have also identified markers of prognosis that have been validated as part of risk stratification scores in multiple cohorts. The emphasis on early identification through a systematic assessment pathway and the option of upfront combination therapy with serial risk stratification assessment has laid the foundation for the standard of care and improved prognosis. This review provides an update on the assessment and newer therapies for PAH.

肺动脉高压(PAH)是一种罕见疾病,在过去的三十年里,其流行病学、评估和治疗方面都发生了显著的变化。西方国家完善的登记不仅突显了流行病学向年龄更大、合并症更多的队列转变,而且还确定了预后标志物,这些标志物已在多个队列中作为风险分层评分的一部分得到验证。强调通过系统评估途径进行早期识别,以及选择前期联合治疗和连续的风险分层评估,为标准治疗和改善预后奠定了基础。本综述介绍了 PAH 评估和新疗法的最新进展。
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引用次数: 0
Development and validation of a predictive scoring system for hypoglycaemic agents for optimal control of blood glucose during glucocorticoid therapy. 开发和验证降糖药物预测评分系统,以优化糖皮质激素治疗期间的血糖控制。
IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-23 DOI: 10.1111/imj.16547
Ayaka Kato, Masayuki Fuwa, Motochika Asano, Ichiro Mori, Saori Iida, Hideyuki Okada, Yoshihiro Uno, Kei Fujioka, Hiroyuki Morita

Background: Glucocorticoid (GC) treatments are often used. There is limited information on the prediction of hyperglycaemia after GC administration.

Aims: This study aimed to identify the risk factors for hyperglycaemia after glucocorticoid (GC) administration and the need for hypoglycaemic agents to correct it and to develop and validate a novel scoring system for predicting GC-induced hyperglycaemia.

Methods: In a development set, 508 adults receiving prednisolone (PSL) for the first time were divided into two groups based on treatment with or without hypoglycaemic agents. Clinical and laboratory parameters were compared, and risk factors were identified using logistic regression analysis after performing univariate analyses between the two groups. A point-addition scoring system with several categories and coefficients for each risk factor was constructed to predict the need for hypoglycaemic agents. The scoring system was then applied and validated on two validation sets: A and B.

Results: Older age, higher glycated haemoglobin percentage, body mass index and initial PSL dosage were identified as risk factors. The sensitivity, specificity and accuracy of the scoring system were 70.6%, 81.9% and 77.1% in the development set; 75.8%, 78.4% and 77.4% in validation set A; and 79.4%, 73.9% and 75.3% in validation set B respectively. By fitting the total score in the development set and the probability of hyperglycaemia to a logistic curve, a figure was created to show the probability of GC-induced hyperglycaemia in patients scheduled to receive GC.

Conclusion: This scoring system is a novel, valid and reliable tool for predicting GC-induced hyperglycaemia and the need for hypoglycaemic agents to correct it.

背景:糖皮质激素(GC)是常用的治疗药物。目的:本研究旨在确定使用糖皮质激素(GC)后出现高血糖的风险因素,以及是否需要使用降糖药物来纠正高血糖,并开发和验证一种预测 GC 引起的高血糖的新型评分系统:在一个开发组中,首次接受泼尼松龙(PSL)治疗的508名成人根据使用或不使用降糖药物分为两组。在对两组进行单变量分析后,比较了临床和实验室参数,并使用逻辑回归分析确定了风险因素。为预测是否需要使用降糖药,建立了一个加分评分系统,每个风险因素都有若干类别和系数。然后在两个验证组中应用并验证了该评分系统:结果:结果:年龄较大、糖化血红蛋白百分比较高、体重指数和初始 PSL 剂量被确定为风险因素。在开发集中,评分系统的灵敏度、特异度和准确度分别为 70.6%、81.9% 和 77.1%;在验证集 A 中分别为 75.8%、78.4% 和 77.4%;在验证集 B 中分别为 79.4%、73.9% 和 75.3%。通过将开发集的总分和高血糖发生概率拟合到一条逻辑曲线上,绘制出了一张图表,显示了计划接受 GC 治疗的患者发生 GC 引起的高血糖的概率:该评分系统是一种新颖、有效和可靠的工具,可用于预测 GC 引起的高血糖以及是否需要使用降糖药物来纠正高血糖。
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引用次数: 0
Adult penicillin allergy programmes in Australian hospitals: a practical guide from the National Antibiotic Allergy Network 澳大利亚医院成人青霉素过敏计划:国家抗生素过敏网络实用指南。
IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-23 DOI: 10.1111/imj.16543
Rory Hannah, Elise Mitri, Constance H. Katelaris, Jennifer O'Hern, Minyon Avent, Glenn Valoppi, Matthew Rawlins, Catherine Frith, Brendan McMullan, David Kong, Kyra Chua, Amy Legg, Rod James, Sonja Janson, Carolyn Hawkins, Katrina Randall, Courtney Ierano, Karin Thursky, Jason A. Trubiano

Penicillin allergy is a significant burden on patient, prescribing and hospital outcomes. There has been increasing interest in the incorporation of penicillin allergy testing (i.e. delabelling) into antimicrobial stewardship (AMS) programmes to reduce the burden of penicillin allergy labels and improve prescribing. In particular, there has been a focus on point-of-care penicillin allergy assessment and direct oral challenge for low-risk phenotypes. The National Antibiotic Allergy Network has provided a guide to assist AMS clinicians with the incorporation of penicillin allergy programmes, in particular direct oral challenge, into Australian hospitals.

青霉素过敏对患者、处方和医院的治疗效果造成了极大的负担。为了减轻青霉素过敏标签的负担并改善处方,人们越来越关注将青霉素过敏检测(即脱标签)纳入抗菌药物管理(AMS)计划。特别是,护理点青霉素过敏评估和针对低风险表型的直接口服挑战一直是重点。国家抗生素过敏网络提供了一份指南,以协助抗生素管理计划的临床医生将青霉素过敏计划,尤其是直接口服青霉素过敏计划纳入澳大利亚的医院。
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引用次数: 0
Predictive value of urine microscopy and urine culture in bacteraemic adults without localising urinary features. 尿液显微镜检查和尿液培养对无局部泌尿系统特征的细菌感染成人的预测价值。
IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-22 DOI: 10.1111/imj.16542
Nicholas Young, Jenna Beaumont, Alexandra Maling, Christopher Hopkins

Background: Urine microscopy (UM) and urine culture (UC) are used in bacteraemic patients to identify a urinary focus of infection. However, their positive and negative predictive values (PPV and NPV) in patients without localising urinary features are uncertain.

Aims: We aimed to determine the predictive value of UM/UC for diagnosing bacteraemic urinary tract infection (bUTI) in bacteraemic patients without localising urinary features.

Methods: A retrospective study of bacteraemic adults was conducted. PPV and NPV of UM/UC for bacteraemic urinary tract infection (bUTI) was determined in two subgroups of patients without localising urinary features: those with an unclear focus of infection, and those with a suspected non-urinary focus of infection. In those with an unclear focus, univariate analysis for risk factors associated with bUTI was performed.

Results: A total of 871 patients were included. Localising urinary features were absent in 110 of 342 patients (32.2%) with bUTI. In patients with an unclear focus, UM had a PPV of 51.5% and an NPV of 96% for bUTI, and UC had a PPV of 75% and an NPV of 88.6%. In patients with a suspected non-urinary focus, UM had a PPV of 5.2% and an NPV of 100%, and UC had a PPV of 25% and an NPV of 99.5%. While some risk factors for bUTI in patients with an unclear focus were identified, 22 of 98 patients (22.4%) had bUTI despite no risk factors.

Conclusions: bUTI without localising urinary features is common. In bacteraemia of unclear focus, UM/UC has a high NPV for excluding bUTI, although PPV is limited and non-urinary foci require consideration despite a positive result. UM/UC is low yield in those with a suspected non-urinary focus of infection.

背景:尿液显微镜检查(UM)和尿液培养(UC)用于菌血症患者,以确定泌尿系统感染病灶。目的:我们旨在确定尿液显微镜检查/尿液培养在诊断无局部泌尿系统特征的菌血症患者尿路感染(bUTI)时的预测值:方法:对菌血症成人进行回顾性研究。方法:对成人菌血症患者进行了回顾性研究,在两组无局部泌尿系统特征的患者中确定了 UM/UC 对于菌血症性尿路感染(bUTI)的 PPV 和 NPV:感染病灶不明确的患者和疑似非泌尿系统感染病灶的患者。在病灶不明确的患者中,对与 bUTI 相关的风险因素进行了单变量分析:结果:共纳入 871 例患者。在 342 例尿路感染患者中,有 110 例(32.2%)不具备尿路定位特征。在病灶不明确的患者中,UM 对 bUTI 的 PPV 为 51.5%,NPV 为 96%,UC 的 PPV 为 75%,NPV 为 88.6%。在疑似非尿路病灶患者中,UM 的 PPV 为 5.2%,NPV 为 100%,UC 的 PPV 为 25%,NPV 为 99.5%。虽然在病灶不明确的患者中发现了一些引起细菌性尿路感染的危险因素,但在 98 例患者中有 22 例(22.4%)在没有危险因素的情况下也患上了细菌性尿路感染。在病灶不明确的菌血症中,UM/UC 在排除 bUTI 方面的 NPV 很高,但 PPV 有限,而且尽管结果呈阳性,仍需考虑非泌尿系统病灶。对于疑似非泌尿系统感染灶的患者,UM/UC 的阳性率较低。
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引用次数: 0
Amoebic encephalitis within Australia. 澳大利亚境内的阿米巴脑炎。
IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-21 DOI: 10.1111/imj.16523
Samantha C Carija, Avram Levy, Graham Weaire-Buchanan, Terence Lee, Robin Woodward, Jake Gezeley, Troy A Edwards, Jason M Dyke, Vicki Fabian, Katherine Norton, Andrew Chapman, Paul R Ingram

Granulomatous amoebic encephalitis is a rare but likely under-recognised form of subacute, usually fatal, encephalitis. We present an illustrative case report and literature review of Australian cases, summarising clinical features, diagnostic methods, treatment and outcomes.

肉芽肿阿米巴脑炎是一种罕见的亚急性脑炎,通常是致命的,但很可能未得到充分认识。我们对澳大利亚的病例进行了说明性病例报告和文献综述,总结了临床特征、诊断方法、治疗和结果。
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引用次数: 0
Epidemiology and outcome of medical emergency team calls within 48 hours of intensive care unit discharge. 重症监护室出院 48 小时内医疗急救小组呼叫的流行病学和结果。
IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-19 DOI: 10.1111/imj.16538
Jessica Ransom, Emily See, Glenn Eastwood, Helen Opdam, Rinaldo Bellomo, Daryl Jones

Background: Some patients experience early (within 48 h) clinical deterioration and medical emergency team (MET) review following intensive care unit (ICU) discharge. Few studies have explored early MET review, despite it being a recognised quality and safety indicator.

Aims: To evaluate the (i) proportion of patients discharged from ICU receiving MET review and timing of reviews; (ii) characteristics of patients who received early MET review and (iii) predictors of early MET review and associations with clinical outcomes.

Methods: This is a retrospective observational study of ICU discharges over 2 years in a tertiary hospital and involves descriptive and inferential statistics, including logistic regression analysis.

Results: Of 3712 patients, 312 (8.4%) had an early MET review. Patients with cardiothoracic, cardiovascular, gastrointestinal and general surgical diagnoses, higher illness severity or who received invasive ventilation had a higher risk of early MET review. On multivariable analysis, early MET review was associated with an increased risk of ICU re-admission (odds ratio (OR) 6.76, 95% confidence interval (CI) 5.01-9.13, P < 0.001), in-hospital mortality (OR 3.62, 95% CI 2.19-5.99, P < 0.001) and discharge to a nursing home (OR 2.49, 95% CI 1.25-4.97, P = 0.01). Length of stay was longer in patients requiring early post-ICU MET review compared to those who did not (median 16 days vs. 10 days, P < 0.001).

Conclusions: One in 12 patients received post-ICU early MET review. This was more likely in patients who were invasively ventilated, had higher illness severity and had certain admission diagnoses. Such patients were at risk for worse outcomes. There is a need to identify reversible factors contributing to such increased risk.

背景:一些患者在重症监护室(ICU)出院后,会出现早期(48 小时内)临床病情恶化并接受医疗急救小组(MET)复查。目的:评估(i) 重症监护室出院患者接受医疗急救小组复查的比例和复查时间;(ii) 接受医疗急救小组早期复查患者的特征;(iii) 医疗急救小组早期复查的预测因素以及与临床结果的关系:这是一项回顾性观察研究,研究对象是一家三级甲等医院两年来的 ICU 出院患者,研究内容包括描述性和推论性统计,包括逻辑回归分析:在 3712 名患者中,312 人(8.4%)进行了早期 MET 复查。诊断为心胸、心血管、胃肠道和普通外科的患者,病情严重程度较高或接受有创通气的患者接受早期 MET 复查的风险较高。经多变量分析,早期 MET 复查与 ICU 再次入院风险增加有关(几率比(OR)6.76,95% 置信区间(CI)5.01-9.13,P):每 12 名患者中就有一人接受了重症监护室术后早期 MET 复查。有创通气、病情严重程度较高和有特定入院诊断的患者更有可能接受这种检查。这些患者的预后有恶化的风险。有必要找出导致风险增加的可逆因素。
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引用次数: 0
Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study. 22q11 缺失晚期诊断患者的表型:回顾与回顾性研究。
IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-19 DOI: 10.1111/imj.16534
Marissa Loh, Tamar Schildkraut, Angela Byrnes, Nikki Gelfand, Lucy Gugasyan, Ari E Horton, Matthew F Hunter, Samar Ojaimi

Background: Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, typically presenting in neonates with congenital cardiac anomalies, hypocalcaemia and thymic hypoplasia. Some patients are diagnosed later in adolescence and adulthood, with less known about the clinical phenotype of these patients.

Aim: To summarise key clinical features in cases of 22q11DS diagnosed during adolescence and adulthood.

Methods: This is a retrospective cohort study of 22q11DS patients diagnosed after 13 years of age over 2010-2021, with a literature review of published cases highlighting other late diagnoses. The study was performed in a large multicentre tertiary health network in Melbourne, Australia. Patients diagnosed with 22q11DS after the age of 13 years were included in the study. Main outcome measures were key clinical features in cases of late diagnosis of 22q11DS.

Results: A literature search yielded 53 published case reports and one cohort study for review (62 subjects). Additionally, 10 cases of late diagnosis of 22q11DS were identified through a retrospective electronic medical chart review. Findings suggest that intellectual disability and learning difficulties, hypocalcaemia with hypoparathyroidism and facial dysmorphism remain key features in patients with a late diagnosis of 22q11DS, with hypocalcaemia being the most common presentation leading to diagnosis. Patients diagnosed in adulthood may lack classical clinical features of congenital cardiac anomalies and thymic hypoplasia. Immunological consequences of 22q11DS are also an important late-onset consideration. Atypical features may include basal ganglia calcification.

Conclusions: Chromosome 22q11DS has diverse clinical features and a highly variable phenotype, likely contributing to underdiagnosis and later diagnoses.

背景:染色体 22q11.2 缺失综合征(22q11DS)是最常见的微缺失综合征,通常表现为新生儿先天性心脏异常、低钙血症和胸腺发育不全。有些患者在青春期和成年后才被确诊,但对这些患者的临床表型却知之甚少。目的:总结在青春期和成年后确诊的 22q11DS 病例的主要临床特征:这是一项回顾性队列研究,研究对象是 2010-2021 年间被诊断为 13 岁以后的 22q11DS 患者,并对已发表的病例进行了文献回顾,重点关注其他晚期诊断病例。研究在澳大利亚墨尔本的一个大型多中心三级医疗网络中进行。研究纳入了13岁以后确诊为22q11DS的患者。主要结果指标为22q11DS晚期诊断病例的主要临床特征:通过文献检索,共获得 53 篇已发表的病例报告和 1 项队列研究(62 例受试者)。此外,通过回顾性电子病历还发现了 10 例晚期诊断 22q11DS 的病例。研究结果表明,智力障碍和学习困难、低钙血症伴甲状旁腺功能减退和面部畸形仍是晚期诊断出22q11DS患者的主要特征,其中低钙血症是导致诊断的最常见表现。成年后确诊的患者可能缺乏先天性心脏畸形和胸腺发育不全的典型临床特征。22q11DS 的免疫学后果也是晚期发病的一个重要考虑因素。非典型特征可能包括基底节钙化:结论:染色体 22q11DS 具有多种临床特征和多变的表型,很可能导致诊断不足和晚期诊断。
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引用次数: 0
Treatment outcomes of mild to moderate Clostridioides difficile infection in inflammatory bowel disease: an Australian experience. 炎症性肠病中轻度至中度艰难梭菌感染的治疗效果:澳大利亚的经验。
IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-18 DOI: 10.1111/imj.16545
Rachael Jacob, Virginia Chu, Watson Ng, Astrid-Jane Williams, Susan Connor

Background: The incidence of Clostridioides difficile infection (CDI) in inflammatory bowel disease (IBD) is rising and associated with adverse outcomes. Optimal treatment for CDI in IBD remains unknown, with various organisations suggesting vancomycin as first-line therapy.

Aim: To compare treatment outcomes for metronidazole versus vancomycin in mild to moderate CDI in IBD.

Methods: A retrospective analysis of IBD patients with CDI between January 2015 and December 2019 was conducted. Laboratory data and clinical outcomes were examined.

Results: Forty-seven discrete episodes of CDI in 34 patients occurred during the study period. Fifty-three per cent (18) had Crohn's disease, 44% (15) ulcerative colitis and 3% (1) IBD unclassified. Six per cent (3/47) of CDI cases were severe and excluded. In 68% (30/44) of mild to moderate CDI, metronidazole was prescribed, with treatment failure in 20% (6/30), CDI recurrence in 13% (4/30) and 20% (6/30) experiencing a further CDI episode. Comparatively, vancomycin was prescribed in 23% (10/44) without any treatment failures; however, 10% (1/10) had CDI recurrence and 40% (4/10) experienced another CDI episode. No statistically significant difference was noted between metronidazole and vancomycin therapy for treatment failure (P = 0.31), CDI recurrence (P = 1.0) or further CDI episodes (P = 0.23). Proton-pump inhibitor therapy was the only risk factor associated with a higher rate of the composite outcome and remained significant on multivariate logistic regression (odds ratio 12.99 (95% confidence interval = 1.21-139.97), P = 0.03).

Conclusion: Metronidazole compared to vancomycin for treatment of mild to moderate CDI in IBD is effective however may be associated with higher rates of treatment failure.

背景:炎症性肠病(IBD)中艰难梭菌感染(CDI)的发病率正在上升,并与不良后果相关。目的:比较甲硝唑与万古霉素治疗 IBD 轻度至中度 CDI 的疗效:对2015年1月至2019年12月期间患有CDI的IBD患者进行回顾性分析。对实验室数据和临床结果进行了研究:研究期间,34 名患者发生了 47 次不连续的 CDI。53%(18 人)患有克罗恩病,44%(15 人)患有溃疡性结肠炎,3%(1 人)患有未分类的 IBD。6%(3/47)的 CDI 病例病情严重,被排除在外。68%(30/44)的轻度至中度 CDI 病例使用了甲硝唑,20%(6/30)的病例治疗失败,13%(4/30)的病例 CDI 复发,20%(6/30)的病例 CDI 再次发作。相比之下,23%(10/44)的患者使用了万古霉素,但没有出现治疗失败;不过,10%(1/10)的患者 CDI 复发,40%(4/10)的患者 CDI 再次发作。甲硝唑和万古霉素疗法在治疗失败(P = 0.31)、CDI 复发(P = 1.0)或 CDI 再次发作(P = 0.23)方面无统计学差异。质子泵抑制剂治疗是唯一与较高的综合结果发生率相关的风险因素,并且在多变量逻辑回归中仍然显著(几率比12.99(95%置信区间=1.21-139.97),P=0.03):甲硝唑与万古霉素相比,治疗IBD轻中度CDI效果显著,但治疗失败率较高。
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