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Diabetic autonomic neuropathy.

Diabetic autonomic neuropathy (DAN) is a serious and common complication of diabetes. Despite its relationship to an increased risk of cardiovascular mortality and its association with multiple symptoms and impairments, the significance of DAN has not been fully appreciated. The reported prevalence of DAN varies widely depending on the cohort studied and the methods of assessment. In randomly selected cohorts of asymptomatic individuals with diabetes, approximately 20% had abnormal cardiovascular autonomic function. DAN frequently coexists with other peripheral neuropathies and other diabetic

Neurocardiology Update: The Brain-Heart Connection in Multiple Sclerosis-A Narrative Review.

BACKGROUND AND AIMS: While multiple sclerosis (MS) is primarily considered a neurological disorder, mounting evidence suggests a strong association with cardiovascular diseases (CVDs), impacting both disease progression and patient outcomes. This paper aims to raise awareness of this disease association while promoting a clinical-oriented, multidisciplinary approach that can provide long-term benefits for these patients. METHODS: A comprehensive literature review was conducted to gather up-to-date evidence concerning the incidence and type of CVDs associated with MS, the mechanisms underlying

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… Among autonomic symptoms, orthostatic intolerance has been linked to reduced quality of life and fatigue [ 62 ]. … Specific tests for detecting autonomic dysfunction may be applied if patients present unexplained falls, increased fatigue, or signs of orthostatic intolerance. …

Small-Fiber Neuropathy: An Etiology-Oriented Review.

BackgroundSmall-fiber neuropathy (SFN), affecting Aδ or C nerve fibers, is characterized by alterations of pain and temperature sensation, as well as autonomic dysfunction. Its diagnosis may still remain challenging as methods specifically assessing small nerve fibers are not always readily available, and standard techniques for large-fiber neuropathies, such as electroneuromyography, yield negative results. Still, skin biopsy for epidermal innervation and quantitative sensory testing allow for diagnosis in the presence of a congruent clinical picture.ObjectivesMany different etiologies may un

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… Autonomic impairment is less frequent but can affect the various domains of this system, such as the cardiovascular (orthostatic intolerance/hypotension), vasomotor (skin flushing), secretomotor (xerostomia, sialorrhea), gastrointestinal (constipation, diarrhea, gastroparesis), genitourinary (urinary … Small fiber neuropathy in children, adolescents, and young adults with chronic orthostatic intolerance and postural orthostatic tachycardia syndrome: A retrospective study Auton. Neurosci. Basic Clin. 2024 253 103163 10.1016/j.autneu.2024.103163 38537312 32. Shaheen B.S. Bakir M. Jain S. …

Neurovisceral Syndrome in a Patient with Monoclonal Gammopathy of Undetermined Significance: A Confirmed Case of Variegate Porphyria.

Variegate porphyria (VP) is a rare disorder presenting with cutaneous, neurological, and systemic symptoms. We report a 53-year-old man initially hospitalized for a depressive episode, during which blistering lesions and facial flushing were noted. He was misdiagnosed and treated for cellulitis and contact dermatitis without improvement. Repeated misdiagnoses led to extensive autoimmune, infectious, and hematologic workup, revealing coexisting monoclonal gammopathy of undetermined significance (MGUS). Over the following months, he developed abdominal pain, mood swings, cognitive impairment, ne

Treating Lows: Management of Orthostatic Hypotension.

AbstractOrthostatic hypotension is a prevalent clinical condition, caused by heterogenous etiologies and associated with significant morbidity and mortality. Management is particularly challenging in patients with uncontrolled hypertension. A thorough assessment is needed to draw an appropriate management plan. The treatment aims to improve postural symptoms while minimizing side effects and reducing iatrogenic exacerbation of supine hypertension. A personalized management plan including rationalizing medications, patient education, identification, and avoidance of triggers, as well as nonphar

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… intolerance (OI) syndrome.” … Endurance exercise training in orthostatic intolerance . Hypertension . 2005 ; 45 : 391 – 398 . 15699447 10.1161/01.HYP.0000156540.25707.af 35. Brilla LR Stephens AB Knutzen KM , et al . Effect of strength training on orthostatic hypotension in older adults . …

From Clinical Clues to Final Diagnosis: The Return of Detective Work to Clinical Medicine in Cardiac Amyloidosis.

Cardiac amyloidosis is frequently misdiagnosed, denying patients the opportunity for timely and appropriate management of the disease. The purpose of this review and case studies is to raise awareness of the diagnostic "red flags" associated with cardiac amyloidosis and the currently available non-invasive strategies for diagnosis. The review focuses on the identification of one of the two main types of cardiac amyloidosis, transthyretin amyloid cardiomyopathy, and non-invasive tools to distinguish this from light-chain amyloidosis. A diagnostic algorithm centered around the use of non-invasiv

Послеаварийное продолжение COVID-19 Инфекция у людей с множественным склерозом.

СПРАВОЧНАЯ ИНФОРМАЦИЯ: Множество распространенных симптомов в послеакуумных сиквелах после острого острого дыхательного синдрома коронавируса 2 (В тыс.SARS-CoV-2) инфекция (PASC) дублирует инфекцию с множественным склерозом (MS). Мы изучили симптомы и показатели ПАСС, разработанные для населения в целом, в MS на основе истории инфекции. Мы опросили участников Североамериканского научно-исследовательского комитета по множественным склерозам (NARCOMS) по вопросам регистрации инфекций и их классификации на основе истории инфекции. Симптомы до, во время и после инфицирования использовались для выя

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… Autonomic dysfunction was assessed using the Composite Autonomic Symptom Scale-31 (COMPASS-31) 10 questionnaire, which evaluates six domains of autonomic dysfunction, including orthostatic intolerance, vasomotor, secretomotor, gastrointestinal, bladder, and pupillomotor. 10 The COMPASS-31 generates a … Missing values: gender = 2, education = 48, age at start of symptoms = 44, year of diagnosis = 15, orthostatic intolerance = 2, gastrointestinal = 2, pupillomotor = 3. Values presented as Mean ± SD, Median [P25, P75], or N (column %). b ANOVA. c Kruskal–Wallis test. d Pearson’s chi-square test. …

Peripheral Nervous, Hepatic, and Gastrointestinal Endpoints for AL Amyloidosis Clinical Trials: Report from the Amyloidosis Forum Multi-organ System Working Group.

Systemic immunoglobulin light chain (AL) amyloidosis is a heterogeneous rare disease driven by a destructive monoclonal gammopathy and typified by misfolded immunoglobulin light and/or heavy chains which aggregate and deposit in organs as insoluble amyloid fibrils. Disease heterogeneity is driven by the degree of multi-systemic involvement; cardiac, renal, neurological, and gastrointestinal (GI) systems are affected to varying degrees in different patients. While prognosis is primarily driven by hematologic response to treatment and outcomes associated with cardiac events and overall survival,

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… intolerance, erectile dysfunction) and/or somatic (e.g., lack of sensation, weakness). … Following 18 months of patisiran treatment, COMPASS-31 scores improved (least-squares mean change from baseline, − 5.3; 95% CI − 7.9, − 2.7) as did individual domains of orthostatic intolerance and GI symptoms; placebo scored worsened by 2.2 points [ 33 ]. …

Cardiac Amyloidosis Treatment.

Cardiac amyloidosis (CA) is a restrictive cardiomyopathy with a traditionally poor prognosis. Until recently, CA treatment options were limited and consisted predominantly of managing symptoms and disease-related complications. However, the last decade has seen significant advances in disease-modifying therapies, increased awareness of CA, and improved diagnostic methods resulting in earlier diagnoses. In this review, we provide an overview of current and experimental treatments for the predominant types of CA: transthyretin cardiac amyloidosis (ATTR-CA) and immunoglobulin light chain (AL)-med

Сердечно-когнитивные ассоциации в период физиологических проблем, связанных с повторным множественным склерозом.

КОЛИЧЕСКАЯ ОСНОВА: Когнитивное нарушение, особенно снижение скорости обработки информации (ИПС), является клинически значимым проявлением множественного склероза (МС). Тест с использованием символических дигитов (SDMT) является чувствительным, проверенным показателем IPS, широко используемым в исследованиях MS. В то время как сосудистые и гемодинамические факторы все чаще признаются в качестве факторов, способствующих когнитивной эффективности в MS, их взаимосвязь с IPS с различными физиологическими проблемами остается неизученной.ЦЕЛЬ: В рамках этого экспериментального исследования были проан

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… Cardiovascular autonomic dysfunction in multiple sclerosis: Correlation with orthostatic intolerance. J. Neurol. 1999;246:578–586. doi: 10.1007/s004150050407. 29. Chang Y.K., Labban J.D., Gapin J.I., Etnier J.L. The effects of acute exercise on cognitive performance: A meta-analysis. …

HERV Dys Regulation в деле Myalgic Encephalomyelitis и Multic Sclerosis Responsive to Rituximab.

В этой статье резюмируется случай, когда 30-летний мужчина диагностировал синдром мальгического энцефаломелита/хронического утомительного синдрома (ME/CFS) и его продольный слежение, в результате чего через восемь лет был диагностирован множественный склероз (MS). Наиболее ощутимым результатом стала его реакция на ритуксимаб после систематического отказа в предварительном лечении. Хотя выражение эндогенных ретровирусных белков ассоциируется с автоиммунитетом, пациент не продемонстрировал более широкое выражение токсичного белка HERV (человеческий ретровирус)-W ENV, который является целью текущ

Синдром Сусака: история инвалидности из-за позднего признания.

Синдром Сусака является редкой провокационной микроангиопатией, характеризующейся триадой ретинопатии, энцефалопатии и потери слуха. Синдром вызывает повторяющиеся микроинфаркты в этих органах, которые, в свою очередь, проявляются в неоднократных атаках, связанных с потерей визуального поля, потерей слуха и слуха, а также различными синдромами мозга. Это часто приводит к значительному накоплению инвалидности с течением времени, особенно в случае задержек или неудач в диагностике. Повреждения мозга, связанные с этим заболеванием, могут быть похожи на повреждения, вызванные множественным склероз

Radiologically Guided Renal Artery Embolization with an Amplatzer Vascular Plug as a Rescue Therapy for Refractory Nephrotic Syndrome in AL-Amyloidosis.

Nephrotic syndrome is common in immunoglobulin light-chain (AL) amyloidosis and successful therapy may pose a challenge. We report the case of a 63-year-old patient with severe nephrotic syndrome due to primary renal AL-amyloidosis with well-preserved renal function at first presentation. Therapy with high dose steroids, loop diuretics, and ACE-inhibitors did not affect his proteinuria and he was seriously disabled because of symptomatic orthostatic hypotension and anasarca. With the patient's informed consent, medical nephrectomy was tried with nonsteroidal-anti-inflammatory drugs (NSAIDs), c

Occult endocrine disorders newly diagnosed in patients with post-COVID-19 symptoms.

Determination of long COVID requires ruling out alternative diagnoses, but there has been no report on the features of alternative diagnoses. This study was a single-center retrospective study of outpatients who visited our clinic between February 2021 and June 2023 that was carried out to determine the characteristics of alternative diagnoses in patients with post-COVID-19 symptoms. In a total of 731 patients, 50 patients (6.8%) were newly diagnosed with 52 diseases requiring medical intervention, and 16 (32%) of those 50 patients (2.2% of the total) were considered to have priority for treat

Recurrent Syncope, a Clue in Amyloid Cardiomyopathy.

Infiltrative cardiomyopathies include a variety of disorders that lead to myocardial thickening resulting in a constellation of clinical manifestations and eventually heart failure that could be the first clue to reach the diagnosis. Among the more described infiltrative diseases of the heart is amyloid cardiomyopathy. The disease usually presents with subtle, nonspecific symptoms. Herein, we illustrate a case of recurrent syncope as the initial presenting symptom for systemic amyloid with polyneuropathy and cardiomyopathy as a cause of syncope. The article illustrates the role of advanced car

Cardiac Amyloidosis: A Rare TTR Mutation Found in an Asian Female.

BACKGROUND: Transthyretin cardiac amyloidosis (ATTR) is a life-threatening, debilitating disease caused by abnormal formation and deposit of transthyretin (TTR) protein in multiple tissues, including myocardial extracellular matrix. It can be challenging to diagnose due to the myriad of presenting signs and symptoms. Additionally, numerous TTR mutations exist in certain ethnicities. Interestingly, our patient was discovered to have a very rare Gly67Ala TTR mutation typically not found in individuals of Asian descent. Recent advances in cardiovascular imaging techniques have allowed for earlier

Clinical course and biomarkers in patients with type 1 Gaucher disease and Parkinson's disease: A retrospective cohort study.

INTRODUCTION: Pathogenic variants in GBA1, the gene encoding beta-glucocerebrosidase, are significant genetic risk factors for Parkinson's disease (PD). Patients with type 1 Gaucher disease (GD1), caused by biallelic GBA1 variants, have approximately six-fold higher lifetime risk for PD compared to the general population. However, few studies have described the clinical presentation of GD-associated PD (GD-PD) in GD1 patients. We describe the variable presentation of PD and evaluate clinical characteristics and biomarkers in a cohort of patients with concurrent diagnoses of GD-PD. METHODS: Re

Cardiac Amyloidosis and its New Clinical Phenotype: Heart Failure with Preserved Ejection Fraction.

Heart failure with preserved ejection fraction (HFpEF) is now an emerging cardiovascular epidemic, being identified as the main phenotype observed in clinical practice. It is more associated with female gender, advanced age and comorbidities such as hypertension, diabetes, obesity and chronic kidney disease. Amyloidosis is a clinical disorder characterized by the deposition of aggregates of insoluble fibrils originating from proteins that exhibit anomalous folding. Recently, pictures of senile amyloidosis have been described in patients with HFpEF, demonstrating the need for clinical cardiolog

Cardiac amyloidosis responding to bortezomib: case report and review of literature.

We report a case of a 53-year old patient with symptoms of congestive heart failure in whom a restrictive cardiomyopathy and a kappa-chain monoclonal gammopahty were diagnosed. Treatment with eight cycles of Bortezomib, a proteasome inhibitor, resulted in a significant regression of myocardial amyloid deposition and a notable clinical and hemodynamic improvement. Over the last few years, the management of cardiac amyloidosis has taken advantage of many of the advances of the chemotherapeutic regimens, as well as the wider availability of stem cell transplantation. The management of cardiac amy

Common Non-Rheumatic Medical Conditions Mimicking Fibromyalgia: A Simple Framework for Differential Diagnosis.

Fibromyalgia (FM) is a chronic non-inflammatory disorder mainly characterized by widespread musculoskeletal pain, fatigue, sleep disturbances, and a constellation of other symptoms. For this reason, delineating a clear distinction between pure FM and FM-like picture attributable to other common diseases can be extremely challenging. Physicians must identify the most significant confounders in individual patients and implement an appropriate diagnostic workflow, carefully choosing a minimal (but sufficient) set of tests to be used for identifying the most plausible diseases in the specific case