SN Comprehensive Clinical Medicine最新文献

Abstract

Isaacs syndrome (IS), commonly referred to as acquired neuromyotonia, is a rare condition characterized mainly by voltage-gated potassium channel (VGKC) antibody-mediated syndrome of peripheral nerve hyperexcitability (PNH). Few case reports have documented IS patients in the absence of both leucine-rich glioma inactivated protein 1 (LGI1) and contactin-associated protein-like 2 (CASPR2) antibodies (double negative). We report a rare case of a 34-year-old healthy female, presenting with a 15-year history of paroxysmal leg cramping and stiffness, preceded by generalized hyperhidrosis and palpitations. Physical examination documented hyperhidrosis, myokymia, and hypertrophic calf muscles. Electromyogram revealed myokymic discharges and neuromyotonic discharges—findings classically seen in Isaacs syndrome. To document the presence of autoantibodies against VGKC, serum LGI1 and CASPR2 antibodies were done; however, both turned out to be absent (double negative). Diagnostic tests to search for an autoimmune or a paraneoplastic etiology were done, which also showed unremarkable results. Despite the unrevealing serologic and imaging tests, a diagnosis of Isaacs syndrome was still made due to the presenting clinical features. Full resolution of symptoms was achieved upon initiation of carbamazepine. Absence of an autoimmune and a paraneoplastic syndrome is possible in IS, especially in cases with double-negative autoantibody status. This is the fifth reported case in published literature of such autoantibody status and highlights the vital role of a physician’s clinical acumen when dealing with rare diseases such as Isaacs syndrome. Knowing the cardinal features of a disease as well as the possible phenotypic varieties allows prompt diagnosis and treatment.

Hypertension (HTN) is the most important controllable risk factor for non-communicable diseases that can have various causes, which vary in different subgroups. This secondary analysis was conducted using the data obtained through the recruitment phase of Ravansar non-communicable cohort study (RaNCD). The multivariable logistic regression was used to determine the risk factors of HTN, and a decision tree with the CART algorithm was used to determine the predictive power of these variables. Of the 10,046 individuals aged 35 to 65 participating in RaNCD, 1579 (15.72%) of the participants had HTN. Aging and diabetes were the most important risk factors of HTN. The sensitivity and specificity of the decision tree for the training and testing models were very similar, such that the sensitivity of training was 69.0% and testing 68.0%, and their specificity was 73.0% and 71.0%, respectively. Overall, the accuracy rate of the training and testing models was 70% and 68%, respectively. The variable that best discriminated people with HTN from non-HTN was diabetes. In people with diabetes, the incidence of HTN was 5 years higher than those without diabetes. Since the predictive power and effect of the risk factors of HTN vary from one group to another, the decision tree can be of great help in identifying people with HTN due to the latent nature of the disease.

Diffuse alveolar hemorrhage (DAH) is unusual and can be a life-threatening side effect of glycoprotein IIb/IIIa receptor antagonists like abciximab. Early diagnosis of this condition can play a key role in preventing adverse outcomes. We report a case of a 74-year-old female who suffered from acute lateral wall myocardial infraction and was treated with a coronary angioplasty. She received abciximab infusion during and after coronary angioplasty due to a high thrombus burden. After the procedure, she had worsening respiratory distress with hemoptysis, and on detailed evaluation, DAH secondary to abciximab was diagnosed. The diagnosis of DAH post-myocardial infraction and coronary angioplasty can be challenging as clinically, it can mimic conditions like acute left ventricular failure and pulmonary embolism. A high index of suspicion is required to diagnose DAH secondary to glycoprotein IIb/IIIa receptor antagonist. The treatment is essentially supportive with immediate cessation of the culprit drug and other anticoagulants. Few cases of severe DAH that are refractory to supportive management might benefit from steroids.

Abstract

Arterial hypertension is one of the most significant and prevalent risk factors for cardiovascular disease. Despite widespread awareness of the condition, as well as a multitude of available antihypertensive drug classes, rates of uncontrolled hypertension remain high on a global scale. Frequently, poor compliance with anti-hypertensive medication plays a big role in patients’ inability to attain adequate blood pressure control. In individuals with resistant and/or uncontrolled hypertension, renal denervation is an emerging device-based therapy that has shown to be efficacious and safe in reducing blood pressure in several sham controlled trials. Additionally, it represents a treatment option for patients intolerant to oral pharmacotherapy.

University Hospital Galway has been performing renal denervation procedures over the past number of years within multicentre, international sham-controlled trials and registries. Representing a novel and emerging antihypertensive treatment option, sources of referral for renal denervation are diverse and multiple; thus, there is an unmet need for standardised referral structures in Ireland. Herein, we review current and developing referral pathways for renal denervation at our institution, and discuss streamlined patient management and requirements to establish a centre of excellence.

IgA nephropathy (IgAN) remains the most frequent glomerular disease worldwide, with a broad spectrum of clinical and histological presentations. It has been associated with many secondary causes. The remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome is an autoimmune disorder characterized by swelling in the extremities and negative autoimmune serological tests. The primary treatment for this condition involves the use of immunosuppressive therapy. Although several triggers have been identified, the exact cause of this condition is still unknown. We report a case of a 53-year-old man who presented with acute exacerbation of chronic kidney disease, whose etiological study revealed advanced IgAN, associated with pleural and pericardial effusions. Even with volume optimization and dialysis intensification, the pericardial effusion worsened, despite the resolving pleural effusion. Upper arm arthralgias were developed afterward. An extensive study ruled out other causes and the hypothesis of RS3PE syndrome was considered. Glucocorticoid (GC) therapy was instituted for 6 months with clinical improvement and no recurrence at 2 years follow-up. The complexity of this case shows the importance of considering a wider diagnosis for the complaints of arthralgias and volume overload, reinforcing the importance of clinical awareness for other concurrent conditions, whose treatment may be lifesaving.

Our SepsiVit study showed that long-term, automatically analyzed ECG recordings can be used to determine heart rate variability (HRV) features associated with the clinical deterioration of early septic patients at the ED. This study focus on the influence of cardiovascular medication on HRV in patients with early sepsis at the ED. This study is an exploratory post-hoc analysis of our SepsiVit study. Eligible patients were connected to a mobile bedside monitor for continuously ECG measurements. The first 3 hours were analyzed for this study. Between January 2017 and December 2018, 171 patients were included with early sepsis, defined as infection and two or more systemic inflammatory response syndrome criteria. We excluded sixteen patients because of insufficient measurements. Therefore, we included 155 patients in the final analysis: 72.9% with sepsis, 2.6% with septic shock, and 24.5% classified as infection. In 9.0% of the patients, medication directly impacting cardiac contractility was administered, while 22.6% received medication with an indirect effect. A combination of both types of medication was prescribed to 17.4% of the patients. The majority of patients (51.0%) did not utilize any cardiovascular medication. Patients using both medication with direct and indirect effect were on average 10 years older than patients using no cardiovascular medication (p 0.037). No differences in vital signs or HRV parameters were found in patients using cardiovascular medication. Our results showed that HRV is not influenced by cardiovascular medication. Consequently, the correction of HRV features for the use of cardiovascular medication is unnecessary when analyzing, modelling, and interpreting these signals.

To identify the body size index (BSI) that exhibited the most significant correlation with intracranial artery enhancement on head computed tomography angiography (CTA) images. Our retrospective study received institutional review board approval, and the requirement for informed patient consent was waived. From April 2020 to October 2021, 99 patients with vascular disease underwent head CTA, during which the CT number (in Hounsfield units [HU]) of the middle cerebral artery at the proximal (M1) region was recorded on both unenhanced and arterial phase scans. We calculated the changes in contrast enhancement per iodine dose (ΔHU/gI) to assess the correlation with BSI. Subsequently, we conducted linear regression analyses between ΔHU/gI and BSI. To evaluate the effects of age, sex, BSI, and scan delay on theΔHU/gI, we used multivariate regression analysis. The ΔHU/gI of the middle cerebral artery during arterial phase was 15.8 ± 4.1 HU/gI. ΔHU/gI and body surface area (BSA) showed the strongest inverse correlation (r = 0.779). Among the BSIs considered in our study, BSA was the most important estimated factor for the ΔHU/gI of the middle cerebral artery on head CTA images acquired during the arterial phase. The BSA and scan delay had significant effects on ΔHU/gI (standardized regression: BSA −0.33, scan delay 0.02; p < 0.05, respectively). Patient BSA and scan delay significantly affected the contrast enhancement of M1 on head CTA images.

Tolosa-Hunt syndrome (THS) is an idiopathic, granulomatous inflammation in the cavernous sinus, supraorbital fissure or orbit. Although the pathophysiology of this idiopathic granulomatous inflammatory process is not clear, it has been suggested that cerebrospinal fluid (CSF) analyses could be helpful in understanding the underlying mechanisms. We report two cases of the 3rd Edition of the International Classification of Headache Disorders (ICHD-3)-classified THS who presented with headache and diplopia. After early treatment with intravenous methylprednisolone, the symptoms of two patients were significantly improved. On outpatient follow-up, neither patient had a relapse. It is worth noting that the isoelectric focusing showed identical CSF and serum oligoclonal IgG bands (OBs). Such bands, “mirror pattern bands”, are one of five standardized patterns (i.e., type 1 = absence of bands in serum and CSF; type 2 = presence of OBs in CSF; type 3 = presence of OBs in CSF and additional identical OBs in both serum and CSF, indicative of intrathecal synthesis; type 4 = presence of identical OBs in both serum and CSF, “mirror pattern”; and type 5 = presence of a monoclonal band in serum and CSF). Previous studies have only found OBs in the CSF of THS (type 4). The finding of “mirror pattern bands” is interesting as it reveals an underlying possible systemic immune activation mechanism in THS.

This brief review article was conducted to summarize the findings regarding correlation and agreement between different methods to assess muscle stiffness (shear wave elastography (SWE), myotonometry, and passive joint stiffness measurements). Muscle stiffness, an important biomechanical characteristic, influences joint flexibility, postural stability, injury risk, and athletic performance. SWE provides insights into tissue elasticity by measuring the propagation speed of shear waves, while myotonometry assesses stiffness through induced muscle oscillations. Passive joint stiffness measurements offer a holistic perspective, capturing the resistance of the entire joint to movement. However, distinguishing the contributions of muscular and non-muscular tissues remains a challenge in this method. The article highlights the variability in the correlation between these methodologies, influenced by factors such as muscle length, age, and examiner technique. While some studies report good agreement between SWE and myotonometry, others note discrepancies, underscoring the need for careful method selection based on the research or clinical context. This review highlights the complexity of assessing muscle stiffness and the necessity of a nuanced approach in interpreting data from different measurement techniques, aiming to guide researchers and clinicians in their choice of method for a precise and accurate evaluation of muscle stiffness.