Confirming a Historical Diagnosis of Multiple Sclerosis: Challenges and Recommendations

Patients with a historical diagnosis of multiple sclerosis (MS) — a patient presenting with a diagnosis of MS made previously and by a different clinician — present specific diagnostic and therapeutic challenges in clinical practice. Application of the McDonald criteria is most straightforward when applied contemporaneously with a syndrome typical of an MS attack or relapse; however, retrospective application of the criteria in some patients with a historical diagnosis of MS can be problematic. Limited patient recollection of symptoms and evolution of neurological examination and MRI findings complicate confirmation of an earlier MS diagnosis and assessment of subsequent disease activity or clinical progression. Adequate records for review of prior clinical examinations, laboratory results, and/or MRI scans obtained at the time of diagnosis or during ensuing care may be inadequate or unavailable. This paper provides recommendations for a clinical approach to the evaluation of patients with a historical diagnosis of MS to aid diagnostic confirmation, avoid misdiagnosis, and inform therapeutic decision-making.

Empowering Patients in the Therapeutic Decision-Making Process: A Glance Into Behçet's Syndrome

Behçet's syndrome (BS) represents a challenging condition, characterized by a variable spectrum of disease profile and associated with a significant limitation of the daily activities as well as a potential negative impact on relationships and psychological status. Considering also the complexity of the therapeutic management of BS, that often includes biological off-label treatments, the participation in the therapeutic decision-making process of the BS patients is essential to ensure the integration of the care process into the life of the patient. For this reason, the empowerment of BS patients represents a crucial need and the present work is aimed at fully exploring all the potential variables implicated in the BS patient empowerment, also highlighting major points to consider and concrete actions to be planned in the immediate future in order to implement a pragmatic facilitation of the patients' empowerment.

Analysis of metabolomic and genomic markers for diagnosing cardiovascular diseases

Cardiovascular disease is the leading cause of death in the population. Unfortunately, cardiovascular disease and its associated risks are often difficult to diagnose due to the many factors associated with age and other comorbidities that lead to significant uncertainty in diagnostic classification and therapeutic decision making. Therefore, there is a great need to find new biomarkers for more accurate diagnosis, risk assessment and treatment recommendations for both acute and chronic cardiovascular disease. This article presents an analysis of metabolomic and genomic markers used for the diagnosis of cardiovascular disease. The study of the metabolome in combination with the genome and proteome can provide important information about both the pathogenesis of cardiovascular disease and the ability to search for and identify new cardiovascular disease biomarkers. Along with the fundamental data on new cardiovascular disease biomarkers, there is an urgent need for further research confirming their great potential for practical health care.

Sagittal balance: from theory to clinical practice

Adequate sagittal balance (SB) is essential to maintain an upright, efficient, and painless posture. It has been shown that sagittal profile alterations affect quality of life of patients with a similar or even greater impact than chronic disease. Evaluation of the SB has gained much relevance in recent years, with recognition of its importance in the evaluation of spinal pathology. This review summarizes the basic principles of SB, aiming to obtain a practical, simple and understandable evaluation of the sagittal profile of a patient. SB is a dynamic process that involves a varying degree of energy expenditure. Distinguishing between a balanced, compensated imbalance or decompensated imbalanced patient, is relevant to diagnosis and therapeutic decision-making. Cite this article: EFORT Open Rev 2021;6:1193-1202. DOI: 10.1302/2058-5241.6.210062

Uterine submucosal leiomyomas: modern diagnosis and miniinvasive surgery

Uterine leiomyomatosis is one of the most common benign pelvic tumors diagnosed in women aged 25-44 years. Clinically, it is manifested by vaginal bleeding, pelvic pain, infertility, digestive and urinary symptoms. The diagnosis of uterine fibroids requires careful clinical and paraclinical evaluation. Based on these data, the therapeutic decision is conducted in most cases. The treatment of uterine leiomyomatosis involves several procedures, such as: total abdominal hystectomy, total vaginal hystectomy, abdominal myomectomy, vaginal, laparoscopic or hysteroscopic myomectomy. Hysteroscopic myomectomy is currently the preferred procedure for submucosal fibroids. It has multiple advantages: shorter recovery time, reduced pain related to movements, shorter duration procedure and fewer risks. The procedure has few contraindications. The most common complication is recurrence. The treatment of choice for prolapsed pedunculated submucous leiomyoma is vaginal myomectomy. As described, the procedure has multiple advantages and generally has a low recurrence rate.

20-hydroxyeiscosatetraenoic acid may be as a predictor of malignant middle cerebral artery infarction in patients with massive middle cerebral artery infarction

Background Early identification of massive middle cerebral artery infarction (MCAI) at risk for malignant MCAI (m-MCAI) may be useful in selecting patients for aggressive therapies. The aim of this study was to determine whether CYP metabolites may help to predict impending m-MCAI. Methods This is a prospective, two-center observational study in 256 patients with acute massive MCAI. Plasma levels of 20-hydroxyeicosatetraenoic acid (20-HETE), epoxyeicosatrienoic acids, and dihydroxyeicosatrienoic acids were measured at admission. Brain computed tomography (CT) was performed at admission and repeated between day 3 and 7, or earlier if there was neurological deterioration. The primary outcome was m-MCAI. The m-MCAI was diagnosed when follow-up brain CT detected a more than two-thirds space-occupying MCAI with midline shift, compression of the basal cisterns, and neurological worsening. Results In total of 256 enrolled patients, 77 (30.1%) patients developed m-MCAI. Among the 77 patients with m-MCAI, 60 (77.9%) patients died during 3 months of stroke onset. 20-HETE level on admission was significantly higher in patients with m-MCAI than those without m-MCAI. There was an increase in the risk of m-MCAI with increase of 20-HETE levels. The third and fourth quartiles of 20-HETE levels were independent predictors of m-MCAI (OR: 2.86; 95% CI: 1.16 – 6.68; P = 0.025, and OR: 4.23; 95% CI: 1.35 – 8.26; P = 0.002, respectively). Conclusions Incidence of m-MCAI was high in patients with massive MCAI and the prognosis of m-MCAI is very poor. Elevated plasma 20-HETE may be as a predictor for m-MCAI in acute massive MCAI, and it might useful in clinical practice in therapeutic decision making.

Leptomeningeal Dissemination of Low-Grade Neuroepithelial Tumor with FGFR1_TACC1 Fusion with Clinical and Radiographic Response to Pazopanib and Topotecan

<b><i>Introduction:</i></b> Low-grade neuroepithelial tumors are a heterogeneous group of central nervous system tumors that are generally indolent in nature but in rare instances can progress to include leptomeningeal dissemination. <b><i>Case Presentation:</i></b> We present a case of a patient with a low-grade neuroepithelial tumor of indeterminate type with symptomatic leptomeningeal dissemination despite 3 chemotherapy regimens and radiotherapy. Somatic targetable mutation testing showed an FGFR1_TACC1 fusion. Therapy with pazopanib/topotecan was initiated, and disease stabilization was achieved. He received pazopanib/topotecan for a total of 2 years and is now &#x3e;2 years from completion of treatment and continues to do well with no evidence of disease. <b><i>Discussion:</i></b> This case highlights the utility of targetable mutation testing in therapeutic decision-making and the novel use of systemic pazopanib/topotecan therapy for refractory low-grade neuroepithelial tumor within the context of this clinical situation and specific mutation profile.

Precision medicine biomarkers in brain metastases: applications, discordances, and obstacles

Brain metastases (BM) present a common cause of mortality and morbidity in several metastatic cancer entities. New therapeutic developments during the last decades, including targeted and immune-related therapies, have shown considerable extra- and intracranial response rates in specific subgroups of BM patients. However, differences in the molecular alteration in the BM tumor tissue compared to extracranial tumors leads to heterogeneous therapeutic responses. Therefore, an accurate molecular analyzation of BM tissue, if possible, has become an essential part in therapeutic decision making in BM patients. The concordance of predictive molecular biomarkers between multiple sites including extracranial and intracranial tumor tissue have been analyzed for some but not all biomarkers routinely applied in modern precision medicine approaches. In the present review, we summarize the current evidence of predictive biomarkers for personalized therapy approaches in the treatment of parenchymal BM.

How Physicians Renew Electronic Prescriptions in Primary Care: Therapeutic Decision or Technical Task?

In long-term pharmacotherapies, the renewal of prescriptions is part of the medication use process. Although the majority of medicines are used with renewed prescriptions, little research has focused on renewal practices. The aim of this study was to explore current renewal practices from a primary care physician’s perspective to identify system-based challenges and development needs related to the renewal practices. This qualitative study was conducted in two phases in public primary health care centres of Kirkkonummi, Finland. First, five physicians were shadowed on-site while they renewed prescriptions. The findings of the shadowing phase were further discussed in two focus group discussions with seven other physicians than in the shadowing phase. Inductive content analysis was used for data analysis utilizing Reason’s risk management theory as a theoretical framework. Due to problems in the renewal process, including impractical information systems, a lack of reconciled medication lists, and a lack of time allocated for renewing prescriptions, physicians felt that monitoring and reviewing each patients’ medications for renewal was complicated. Therefore, they felt that renewing, at times, became a technical task rather than a therapeutic decision. The physicians suggested information system improvements, enhanced interprofessional cooperation, and patient involvement as strategies to ensure rational pharmacotherapy and patient safety in the renewal of prescription medicines.