HHS

hhs
  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    高磷血症家族性肿瘤钙质沉着症(HFTC)和高磷血症增生综合征(HHS)是由多肽N-乙酰氨基半乳糖转移酶3(GALNT3)突变引起的罕见常染色体隐性遗传疾病,成纤维细胞生长因子23(FGF23),或klotho(KL)基因。它们的特征是高磷酸盐血症和骨增生和/或软组织钙质沉着的骨病变的反复发作。管理选择包括降磷酸盐疗法,抗炎药,在严重残疾的病例中,对钙化肿块进行手术切除。我们描述了一个近亲家庭的三例病例,这些病例被发现具有相同的基因突变,该基因突变是由GALNT3c.15241G>A(IVS81)的内含子8中的纯合突变引起的。第一个病例的表现类似于慢性骨髓炎,而第二个在她的臀区出现钙化块。第三个病例表现为左腿疼痛。作为一种罕见的疾病,肿瘤钙质沉着/骨异常的发现,随着磷酸盐水平的升高,应该提高这个实体的可能性。家族史和生化检查有助于达到诊断。
    Hyperphosphatemia familial tumoral calcinosis (HFTC) and hyperphosphatemia hyperostosis syndrome (HHS) are rare autosomal recessive disorders caused by mutations in the polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3), fibroblast growth factor 23 (FGF23), or klotho (KL) genes. They are characterized by hyperphosphatemia and recurrent episodes of bone lesions with hyperostosis and/or soft tissue calcinosis. Management options include phosphate-lowering therapies, anti-inflammatory medications, and surgical excision of the calcified masses in significantly disabled cases. We describe three cases from a consanguineous family who were found to have the same genetic mutation caused by a homozygous mutation in intron eight of GALNT3 c.1524+1 G>A (IVS8+1). The first case had a presentation similar to chronic osteomyelitis, while the second one presented with a calcified mass in her gluteal area. The third case presented with left leg pain. Being a rare disease, the findings of tumoral calcinosis/ bony abnormalities, along with elevated phosphate levels, should raise the possibility of this entity. Family history and biochemical findings can help reach the diagnosis.
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  • 文章类型: Journal Article
    这项研究的目的是评估BDSF方法与常规CC螺钉固定的比较生物力学固定,用于使用三个平行空心螺钉治疗股骨颈骨折。
    这是一项前瞻性队列研究。有两个外科医生团队,其中一个团队使用BDSF技术对患者进行手术,第二个团队使用传统的CC螺钉固定技术进行手术;因此,将患者随机分为两组。根据以下纳入和排除标准将患者纳入研究。
    在通过常规CC螺钉技术管理的15名(83.33%)患者中实现了Union,而在本研究中,通过BDSF技术管理的11例患者(91.67%)实现了愈合。在本研究中,通过BDSF技术管理的患者的平均Harris髋关节评分为90分,而本研究中通过BDSF技术管理的患者的平均Harris髋关节评分为80分。
    BDSF和常规CC螺钉固定都是股骨颈骨折的良好固定方法。但是BDSF技术的功能结局和骨折愈合率更好。虽然,BDSF技术中注意到一些小问题,例如梁螺钉入口处的外皮质骨折和斜向骨折类型的前皮质开放。因此,BDSF方法提供了可靠的固定,其中可以允许患者的早期活动和部分负重。
    UNASSIGNED: The aim of this study is to evaluate comparative biomechanical fixation provided with the BDSF method with the conventional CC screw fixation for treatment of femoral neck fractures with three parallel cannulated screws.
    UNASSIGNED: This is a prospective cohort study. There were two teams of surgeons out of which one team operated the patients with BDSF technique and second with conventional CC screw fixation technique; thus, the patients were randomly distributed into two groups. Patients were included in the study as per the following inclusion and exclusion criteria.
    UNASSIGNED: Union was achieved in 15 (83.33%) patients managed by conventional CC screw technique, while union was achieved in 11 (91.67%) patients managed by BDSF technique in the present study. The average Harris hip score in present study was 90 score in patients managed by BDSF technique, while the average Harris hip score in present study was 80 score in patients managed by BDSF technique.
    UNASSIGNED: Both BDSF and conventional CC screw fixation are good fixation methods for fracture neck of femur. But functional outcome and fracture union rates are better with BDSF Technique. Although, there are some minor problems noted in BDSF technique such as outer cortical fracture at the entry point of beam screw and opening up of anterior cortex of oblique fracture patterns. Thus, BDSF method provides reliable fixation in which early mobilization and partial weight bearing of the patient may be allowed.
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  • 文章类型: Journal Article
    目的:股骨头缺血性坏死是一种常见于中年人的疾病。尽管许多病因被指责,仍然有病因因素尚未完全阐明。尽管治疗选择范围广泛,早期和适当的治疗对保留髋关节非常重要。在我们的研究中,我们比较了髓芯减压和髓芯减压联合骨髓间充质干细胞植入治疗股骨头缺血性坏死的结果。
    方法:在这项回顾性研究中,分析了2018年至2023年接受股骨头缺血性坏死手术的Steinberg1-2期患者。分别由接受孤立核减压和核减压+骨髓间充质干细胞植入的患者组成。年龄,性别,斯坦伯格分期,病因学的疾病,随访期,进展为髋关节置换术,Vas分数,哈里斯髋关节评分(HHS),并对并发症进行了评估。术前和2年随访期间Harris髋关节评分;术前VAS评分,3个月,6个月,1年,和2年的随访期进行了分析。
    结果:在研究中,对44例患者进行了分析。而25例患者仅接受核心减压(第1组),19例患者行核心减压和骨髓间充质干细胞植入(第2组)。第1组患者的平均年龄为39.3±6.5岁,第2组患者的平均年龄为38.4±6.7岁。第1组的平均随访时间为31.85±4.4个月,第2组的平均随访时间为32.2±4.1个月。第1组中的2例患者进行了全髋关节置换术(其中一名患者在第28个月接受了全髋关节置换术,另一名在第33个月接受了全髋关节置换术)。
    结论:股骨头缺血性坏死的治疗方法因分期方法而异。疾病的早期诊断和正确的治疗对患者今后的生活质量非常重要。在我们的研究中,我们发现接受髓芯减压和干细胞植入治疗早期股骨头缺血性坏死的患者在6个月时疼痛减轻,1年,和2年的随访检查。此外,根据HHS评估,他们的髋关节功能在24个月时有所改善。
    OBJECTIVE: Avascular necrosis of the femoral head is a disease usually seen in middle-aged individuals. Although many aetiological factors have been blamed, there are still aetiological factors that have not been fully elucidated. Although treatment options show a wide range, early and appropriate treatment is of great importance to preserve the hip joint. In our study, we compared the results of core decompression and core decompression combined with bone marrow mesenchymal stem cell implantation in patients with avascular necrosis of the femoral head.
    METHODS: In this retrospective study, Steinberg stage 1-2 patients operated on for avascular necrosis of the femoral head between 2018 and 2023 were analysed. Separate groups were formed from patients who underwent isolated core decompression and core decompression + bone marrow mesenchymal stem cell implantation. Age, gender, Steinberg staging, aetiology of the disease, follow-up period, progression to hip arthroplasty, Vas scores, Harris hip scores (HHS), and complications were evaluated. Harris hip scores at preoperative and 2-year follow-up periods; VAS scores at preoperative, 3-month, 6-month, 1-year, and 2-year follow-up periods were analysed.
    RESULTS: In the study, 44 patients were analysed. While 25 patients underwent core decompression only (group 1), 19 patients underwent core decompression and bone marrow mesenchymal stem cell implantation (group 2). The mean age of the patients in group 1 was 39.3 ± 6.5 years, and the mean age of the patients in group 2 was 38.4 ± 6.7 years. The mean follow-up was 31.85 ± 4.4 months in group 1 and 32.2 ± 4.1 months in group 2. Total hip arthroplasty was performed in 2 of the patients in group 1 (one of the patients underwent total hip arthroplasty at month 28 and the other at month 33).
    CONCLUSIONS: The treatment of avascular necrosis of the femoral head varies according to various staging methods. Early diagnosis of the disease and correct treatment are very important for the patient\'s quality of life in the future. In our research, we found that patients who received both core decompression and stem cell implantation for early-stage avascular necrosis of the femoral head exhibited decreased pain at the 6-month, 1-year, and 2-year follow-up examinations. Additionally, their hip function improved at the 24-month mark according to the HHS evaluation.
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  • 文章类型: Journal Article
    背景:在患有骨质疏松症的老年患者的情况下,解决粉碎性股骨粗隆间骨折的主要目标是恢复患者的骨折前活动水平,迅速提高全部承重能力,以及进一步手术干预的可能性最小化。采用半髋关节置换术作为粉碎性股骨转子间骨折的方法被证明是加快康复过程的一种手段,使早期负重和减轻与延长卧床休息相关的问题。作为本研究目标的一部分,将对应用该技术产生的结果进行评估和分析。方法在印度北部的一家三级保健医院进行了为期一年的前瞻性研究。该研究共包括30个人;然而,不幸的是,无法找到其中一名患者进行进一步分析.纳入年龄在60岁以上的不稳定骨质疏松性股骨转子间骨折患者(AO基金会/骨科创伤协会31-A2.2,A2.3或31-A3组)。患者被观察到在一个,三,手术后六个月。Harris髋关节评分(HHS)用于功能结局评估。结果在我们的分析过程中,我们看到整体HHS的增加具有统计学意义.HHS在出院期间的平均值为34.33,范围为32到39。随访一个月后,它增加到55.34(范围=52-59),经过三个月的随访,它继续上升到85.03(范围=63-89)。重要的是要注意,到随访的第六个月,平均HHS达到95.24(范围=63-98)。该研究显示,在所有时间段内,HHS评分均呈统计学上显著的上升趋势(p<0.001)。结论使用骨水泥假体可以实现术后早期下床活动。这有助于患者功能结果的整体改善。胶结性初次双极半髋关节置换术已成为治疗不稳定股骨粗隆间骨折的有希望的替代方法。HHS测量的增强的功能结果提供了这一点的证据。经转子技术在保留外部旋转器的解剖完整性方面显示出优势,尽量减少切除的必要性,减少坐骨神经损伤的危险。这些优势是通过经转子方法显示的。此外,由于布线技术的实现,可以保留较大的转子,从而增强术后恢复并加快恢复到术前状况。与其他内固定技术相比,骨水泥双极半髋关节置换术的使用率大大降低了并发症的发生率,例如需要进一步的手术和植入失败。
    Background In the case of elderly patients suffering from osteoporosis, the primary objectives of addressing comminuted intertrochanteric fractures are centered upon the recuperation of the patients\' pre-fracture levels of activity, the expeditious promotion of full weight-bearing capacity, and the minimization of the likelihood of further surgical interventions. The adoption of hemiarthroplasty as a method for comminuted intertrochanteric fractures is proven as a means of hastening the recovery process, enabling early weight-bearing and mitigating the problems associated with extended bed rest. The outcomes that resulted from the application of this technique will be evaluated and analyzed as part of this study\'s objectives. Methodology A prospective study was conducted over the course of one year at a tertiary care hospital in the northern part of India. The study comprised a total of 30 individuals; however, unfortunately, one of the patients could not be located for further analysis. Patients of either gender in the age group of over 60 years old and with unstable osteoporotic intertrochanteric fractures were included (AO Foundation/Orthopaedic Trauma Association type 31-A2.2, A2.3, or 31-A3 group). Patients were observed at one, three, and six months after the surgical operation. The Harris Hip Score (HHS) was used for the functional outcome evaluation. Results Throughout the course of our analysis, we saw an increase in the overall HHS that was statistically significant. The HHS exhibited a mean value of 34.33 during the period of discharge, with a range of 32 to 39. It increased to 55.34 (range = 52-59) after one month of follow-up, and it continued to rise to 85.03 (range = 63-89) after three months of follow-up. It is important to note that the mean HHS reached 95.24 (range = 63-98) by the sixth month of follow-up. The study showed a statistically significant upward trend in HHS scores across all time periods (p < 0.001). Conclusions Early postoperative ambulation was made possible with the use of cemented prostheses, which contributed to patients\' overall improvements in their functional results. Cemented primary bipolar hemiarthroplasty has emerged as a promising alternative for the treatment of unstable intertrochanteric fractures. The enhanced functional outcomes measured by the HHS provide evidence of this. The transtrochanteric technique has shown advantages in retaining the anatomical integrity of external rotators, minimizing the necessity for their resection, and reducing the danger of sciatic nerve injury. These advantages were displayed by the transtrochanteric approach. Moreover, owing to the implementation of wiring techniques, the larger trochanter could be conserved, resulting in enhanced postoperative recovery and expediting the return to the preoperative condition. When compared with other techniques of internal fixation, the utilization of cemented bipolar hemiarthroplasty demonstrated much-reduced rates of complications, such as the need for further surgery and implant failure.
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  • 文章类型: Journal Article
    在患有髋部骨折的老年人群中,低身体功能与不良预后相关。本研究旨在评估预测髋部骨折后患者康复的预后工具,并研究骨折前运动和功能状态之间的相关性。进行了一项前瞻性研究,包括80名髋部骨折患者。患者病史,以前的瀑布,评估骨折类型和总生存期.患者报告的结局指标(SF-36,EQ-5D/VAS,Charlson合并症指数(CCI),短物理性能电池(SPPB),在出院前6周监测定时起跑(TUG)和Harris髋关节评分(HHS),术后3、6和12个月。总的来说,55%的患者至少有一次跌倒。46%的人在骨折前使用拐杖。平均CCI评分为6.9。SPPB评分从1.4±1.3(1周)提高到4.4±2.1(48周)。一年的年龄增长,女性性别,先前的下跌历史导致0.1-,0.92-,SPPB得分降低0.56倍,分别,在12个月。HHS在6到12周之间记录到最大的改善(52.1±14.6),而TUG评分从139.1±52.6s(6周)持续显著改善至66.4±54s(48周)。SPPB和性能测试可以常规用作预后工具。
    Low physical function is associated with poor outcomes in the elderly population suffering from hip fractures. The present study aims to evaluate the prognostic tools for predicting patient recovery after hip fractures and investigate the correlation between the pre-fracture motor and functional statuses. A prospective study was performed, including 80 patients suffering from hip fractures. Patient history, previous falls, the type of fracture and overall survival were evaluated. Patient-reported outcome measures (SF-36, EQ-5D/VAS, Charlson Comorbidity Index (CCI), Short Physical Performance Battery (SPPB), Timed Up and Go (TUG) and Harris Hip Score (HHS)) were monitored before hospital discharge at 6 weeks, and 3, 6 and 12 months postoperatively. Overall, 55% of patients experienced at least one fall, and 46% of them used crutches before the fracture. The average CCI score was 6.9. The SPPB score improved from 1.4 ± 1.3 (1 week) to 4.4 ± 2.1 (48 weeks). A one-year age increase, female sex, and prior history of falls lead to 0.1-, 0.92-, 0.56-fold lower SPPB scores, respectively, at 12 months. The HHS recorded the greatest improvement between 6 and 12 weeks (52.1 ± 14.6), whereas the TUG score continued to improve significantly from 139.1 ± 52.6 s (6 weeks) to 66.4 ± 54 s (48 weeks). The SPPB and performance test can be routinely used as a prognostic tool.
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  • 文章类型: Journal Article
    随着人口老龄化,老年人髋部骨折已成为主要的公共卫生问题。术后康复与改善的结果和更大的恢复到术前功能能力的可能性相关。已经进行了几项研究来研究各种术后恢复途径。然而,对于哪些髋部骨折术后康复途径在改善患者预后方面最有效,我们知之甚少.目前尚无针对患者的标准动员方案的明确循证指南。这篇综述旨在研究术后恢复途径,以帮助髋部骨折患者恢复骨折前状态,并量化术前和术后评分以进行客观康复评估。测量术前活动并将其与术后随访值进行比较可以帮助预测术后康复功能结果。
    Hip fractures in the elderly have become a major public health concern as the population ages. Post-operative rehabilitation is associated with improved outcomes and a greater likelihood of returning to pre-operative functional capacity. Several studies have been conducted to investigate various post-operative recovery pathways. However, little is known about which post-operative rehabilitation pathways for hip fractures are most effective in improving patient outcomes. No clear evidence-based guidelines for a standard mobilization protocol for patients are currently available. This review aims to investigate post-operative recovery pathways to help patients suffering from hip fracture return to pre-fracture condition and to quantify pre-operative and post-operative scores for objective rehabilitation evaluation. Measuring pre-operative activity and comparing it to post-operative follow-up values can help predict post-operative rehabilitation functional outcomes.
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  • 文章类型: Journal Article
    高渗性高血糖状态(HHS)是与高死亡率相关的医疗紧急情况。它的发生频率低于糖尿病酮症酸中毒(DKA),影响已存在/新的2型糖尿病患者,并越来越多地影响儿童/年轻人。混合DKA/HHS可能发生。JBDSHHS护理路径包括3个主题(临床评估和监测,干预措施,评估和预防伤害)和5个阶段的治疗(0-60分钟,1-6、6-12、12-24和24-72小时)。HHS的临床特征包括明显的低血容量,渗透压≥320mOsm/kg,使用[(2×Na+)+葡萄糖+尿素],显著高血糖≥30mmol/L,无显著酮症(≤3.0mmol/L),无明显酸中毒(pH>7.3)和碳酸氢盐≥15mmol/L治疗的目的是改善临床状态/24小时替换液体损失,渗透压逐渐下降(3.0-8.0mOsm/kg/h,以最大程度地减少神经系统并发症的风险),前24小时血糖10-15mmol/L,预防低血糖/低钾血症并预防伤害(VTE,渗透性脱髓鞘,流体过载,足部溃疡)。必须识别和处理潜在的沉淀物。干预措施包括:(1)静脉注射(IV)0.9%的氯化钠以恢复循环量(液体损失100-220ml/kg,老年人的谨慎),(2)一旦渗透压随着补液而停止下降,应开始固定速率静脉内胰岛素输注(FRIII),除非有酮症(FRIII应与IV液体同时开始)。(3)一旦葡萄糖<14mmol/L,应开始葡萄糖输注(5%或10%);(4)根据钾水平进行钾替代。HHS分辨率标准为:渗透压<300mOsm/kg,纠正低血容量(尿量≥0.5ml/kg/h),认知状态恢复至病前状态,血糖<15mmol/L。
    Hyperosmolar Hyperglycaemic State (HHS) is a medical emergency associated with high mortality. It occurs less frequently than diabetic ketoacidosis (DKA), affects those with pre-existing/new type 2 diabetes mellitus and increasingly affecting children/younger adults. Mixed DKA/HHS may occur. The JBDS HHS care pathway consists of 3 themes (clinical assessment and monitoring, interventions, assessments and prevention of harm) and 5 phases of therapy (0-60 min, 1-6, 6-12, 12-24 and 24-72 h). Clinical features of HHS include marked hypovolaemia, osmolality ≥320 mOsm/kg using [(2×Na+ ) + glucose+urea], marked hyperglycaemia ≥30 mmol/L, without significant ketonaemia (≤3.0 mmol/L), without significant acidosis (pH >7.3) and bicarbonate ≥15 mmol/L. Aims of the therapy are to improve clinical status/replace fluid losses by 24 h, gradual decline in osmolality (3.0-8.0 mOsm/kg/h to minimise the risk of neurological complications), blood glucose 10-15 mmol/L in the first 24 h, prevent hypoglycaemia/hypokalaemia and prevent harm (VTE, osmotic demyelination, fluid overload, foot ulceration). Underlying precipitants must be identified and treated. Interventions include: (1) intravenous (IV) 0.9% sodium chloride to restore circulating volume (fluid losses 100-220 ml/kg, caution in elderly), (2) fixed rate intravenous insulin infusion (FRIII) should be commenced once osmolality stops falling with fluid replacement unless there is ketonaemia (FRIII should be commenced at the same time as IV fluids). (3) glucose infusion (5% or 10%) should be started once glucose <14 mmol/L and (4) potassium replacement according to potassium levels. HHS resolution criteria are: osmolality <300 mOsm/kg, hypovolaemia corrected (urine output ≥0.5 ml/kg/h), cognitive status returned to pre-morbid state and blood glucose <15 mmol/L.
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  • 文章类型: Case Reports
    我们介绍了一名58岁的男性,其既往有高血压和糖尿病病史,并向急诊科就诊,自就诊前一天下午起,主诉右臂跳动异常且无法控制。诸如此类的手臂运动可能与局灶性癫痫发作或偏瘫一致,一种归类为舞蹈形式亚型的运动障碍,由四肢不自主的剧烈运动组成。尽管局灶性癫痫发作和偏瘫通常与中风等神经系统病因有关,偏瘫的第二大常见原因似乎是非酮症性高渗性高血糖.虽然控制局灶性癫痫发作和偏瘫的对症治疗可能包括苯二氮卓类药物和多巴胺受体拮抗剂,分别,治疗根本原因很重要,在这种情况下,这是非酮症性高渗性高血糖状态与该患者长期控制不良的糖尿病病史相关。
    We present a case of a 58-year-old male with a past medical history of hypertension and diabetes mellitus presenting to the emergency department with a complaint of abnormal and uncontrollable right arm jerking motions occurring since the afternoon on the day prior to presentation. Arm movements such as these may be consistent with either focal seizures or hemiballismus, a movement disorder classified as a choreiform subtype consisting of involuntary violent movements of an extremity with wide amplitudes. Although oftentimes focal seizures and hemiballismus are associated with neurologic etiologies such as strokes, the second most common cause of hemiballismus appears to be non-ketotic hyperosmolar hyperglycemia. While symptomatic treatment in managing focal seizures and hemiballismus may consist of benzodiazepines and dopamine receptor antagonists, respectively, it is important to treat the underlying cause, which in this case was the non-ketotic hyperosmolar hyperglycemic state associated with this patient\'s long-standing history of poorly controlled diabetes mellitus.
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  • 文章类型: Case Reports
    Teprotumumab,甲状腺眼病(TED)的新疗法,阻断胰岛素样生长因子1受体,与眼球突出和炎症性眼部症状的改善有关。在最初的审判中,据报道,5%至12%的患者出现高血糖;然而,没有人需要住院治疗。我们报告了一例首次输注teprotumumab后出现高血糖高渗状态。
    一名患有格雷夫斯病的56岁妇女,严重的甲状腺眼病,糖尿病前期表现为多尿,多饮,恶心,腹痛,头痛,头晕,在她第一次输注teprotumumab3周后,急诊科摔倒。她的血清葡萄糖水平为939mg/dL,血清碳酸氢盐水平为28meq/dL,血清渗透压为324mOsm/kg,还有尿液中的微量酮.她接受了静脉输液和胰岛素治疗,随后临床状态和生化特征得到改善。然后,她每天多次注射胰岛素就出院了。
    高血糖是已知的胰岛素样生长因子1受体抑制剂如teprotumumab的不良反应。在最初的试验中,高血糖的发生率为5%至12%。大多数病例是轻度的,并且可以通过滴定当前的糖尿病药物来解决。到目前为止,尚无因严重高血糖或高血糖高渗状态而住院的病例报道。
    我们打算强调使用teprotumumab可能发生的高血糖的严重程度,以及需要进行研究以评估这种情况的真实发生率。
    UNASSIGNED: Teprotumumab, a novel treatment for thyroid eye disease (TED), which blocks the insulin-like growth factor 1 receptor, has been associated with improvement in proptosis and inflammatory ocular symptoms. In the original trials, hyperglycemia was reported in 5% to 12% of patients; however, none required hospitalization. We report a case of hyperglycemic hyperosmolar state after the first infusion of teprotumumab.
    UNASSIGNED: A 56-year-old woman with Graves\' disease, severe thyroid eye disease, and prediabetes presented with polyuria, polydipsia, nausea, abdominal pain, headache, dizziness, and a fall to the emergency department 3 weeks after her first teprotumumab infusion. She was noted to have serum glucose levels of 939 mg/dL, serum bicarbonate levels of 28 meq/dL, serum osmolality of 324 mOsm/kg, and trace ketones in urine. She was treated with intravenous fluids and insulin with subsequent improvement in clinical status and biochemical profile. She was then discharged on multiple daily injections of insulin.
    UNASSIGNED: Hyperglycemia is a known adverse effect of insulin-like growth factor 1 receptor inhibitors like teprotumumab. The incidence of hyperglycemia in the original trials was 5% to 12%. Most cases were mild and resolved with titration of current diabetes medications. No cases of hospitalization due to severe hyperglycemia or hyperglycemic hyperosmolar state have been reported until now.
    UNASSIGNED: We intend to highlight the severity of hyperglycemia that could occur with the use of teprotumumab and the need for research to evaluate the true incidence of this condition.
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