Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations.

Background: Hereditary transthyretin amyloidosis (hATTR) is a rare autosomal dominant disease with high clinical variability, influenced by both genotype and the geographic origins of carriers. There is a limited understanding of the Val142Ile and Ser43Asn recognised mutations in Ecuador and Colombia. Therefore, the objective of this study is to describe the neurological and functional characteristics of patients with hATTR associated with the Val142Ile and Ser43Asn mutations, as well as to identify possible differentiating factors between the two mutations.

[The role of drug Cytoflavin in the correction of dysautonomia in patients with post-COVID syndrome].

Objective: To evaluate the autonomic dysfunction of cardiovascular system (CVS) in patients with post-COVID syndrome with the help of active orthotest and heart rate variability methods.

Material And Methods: 70 patients with PCOS were examined, who were divided into 2 groups. Group 1 patients received standard therapy and Cytoflavin for 35 days, Group 2 patients received only standard therapy.

Orthostatic test shows higher systolic blood pressure and sympathetic response in uncomplicated type 1 diabetes patients with normal V̇O vs. healthy controls.

Purpose: Cardiovascular autonomic neuropathy remains underdiagnosed in type 1 diabetes mellitus, posing a risk for severe complications, particularly in patients with lowered V̇O, compared to controls. This study aimed to determine whether heart rate variability during cardiovascular autonomic reflex tests reveals early signs of cardiovascular autonomic neuropathy in patients with uncomplicated type 1 diabetes mellitus and normal cardiovascular fitness, compared to healthy controls.

Methods: A type 1 diabetes mellitus group (n = 14) with no other diagnosed diseases (diabetes duration 15 ± 7 years) and a control group (n = 31) underwent deep breathing test, passive orthostatic test, and cardiopulmonary exercise test.

Obesity, Metabolic Health, and Diabetic Complications in People With Type 1 Diabetes.

Aim: The concept of metabolically healthy obesity (MHO) has not been studied in type 1 diabetes (T1D). By analysing datasets from the DCCT/EDIC study, we compared the development of diabetic complications by obesity and metabolic health over 30 years of follow up.

Materials And Methods: Insulin resistance was calculated by estimated glucose disposal rate (eGDR).

Electrophysiological Monitoring of Asymptomatic Transthyretin Mutation Carriers.

Introduction/aims: It is imperative to screen asymptomatic carriers of transthyretin (TTR) mutations to initiate treatment early. The protocol for repeated electrodiagnostic (EDX) assessments over time lacks standardization. Our aim was to report the electrophysiological evolution of a cohort of asymptomatic carriers and to determine which biomarkers were most sensitive to change.

Systemic Amyloid Light Chain Amyloidosis With Repeated Syncope Due to Severe Orthostatic Hypotension Caused by Autonomic Neuropathy: A Case Report.

Amyloid light chain (AL) amyloidosis is a disease in which ALs, which are proteins with fibrous structures, are deposited in systemic organs, causing functional impairment. Diagnosis is often difficult because of non-specific and varied symptoms. We report a case of systemic AL amyloidosis that was diagnosed as a result of repeated syncope.

Misfolding of Transthyretin In Vivo is Controlled by the Redox Environment and Macromolecular Crowding.

Transthyretin (TTR) amyloidosis is a progressive disorder characterized by peripheral neuropathy, autonomic dysfunction, and cardiomyopathy. The precise mechanism by which TTR misfolds and forms fibrils in vivo remains incompletely understood, posing challenges to the development of effective therapeutics. In this study, we reveal that the recently identified non-native pathological species (NNTTR), which is enriched in the plasma of ttr-val30met gene carriers, exhibits strong amyloidogenic properties, making it a promising therapeutic target.

Association Between NK Cell Genetic Variants and the Development of Long COVID Associated- and Prepandemic Small Fiber Neuropathy.

Long coronavirus disease 2019 (COVID) (LC) symptoms including pain and autonomic dysfunction are in some patients associated with small-fiber neuropathy (SFN). The pathomechanisms underlying SFN are mostly unclear. Natural killer (NK) cells play a crucial role in immune regulation, viral clearance and nerve metabolism.

Proteomic analysis of human iPSC-derived sympathetic neurons identifies proteostasis collapse as a molecular signature following subtoxic rotenone exposure.

Rotenone is a toxic isoflavone and an inhibitor of the mitochondrial respiratory chain. Rotenone is commonly used due to its piscicidal and pesticidal properties. The peripheral nervous system (PNS) lacks protective barriers and is exposed to many environmental substances due to its long-reaching structure.

Diagnosis and Management of Orthopaedic Conditions Associated With Hereditary Sensory Autonomic Neuropathies.

Hereditary sensory and autonomic neuropathies (HSANs) encompass a diverse group of inherited neuropathies characterized by notable sensory and autonomic involvement that affects musculoskeletal structures and systemic function. There are 8 recognized types of HSAN. The orthopaedic manifestations of HSAN are complex and diverse, including spinal deformity, Charcot arthropathy, osteomyelitis, fractures, osteonecrosis, osteoporosis, and skeletal deformities.

The Neurological Impact of Leprosy: Manifestations and Treatment Approaches.

Background And Objectives: Leprosy primarily affects peripheral nerves, leading to significant neurological complications such as polyneuritis, mononeurosis, and autonomic dysfunction, which contribute to severe disabilities and impaired quality of life for patients. This scoping review aims to investigate the neurological manifestations and main treatments of leprosy patients.

Materials And Methods: Studies were identified from an online search of PubMed, Web of Science, Cochrane Library, Embase, and Scopus databases.

Effects of Revascularization on Cardiac Autonomic Neuropathy in Type 2 Diabetes Mellitus Patients With Chronic Stable Angina.

Background: Type 2 diabetes mellitus (T2DM) leads to cardiac autonomic neuropathy (CAN), affecting blood flow and heart rate regulation eventually causing chronic stable angina (CSA). Percutaneous coronary intervention (PCI) can correct autonomic dysfunctions and improve myocardial perfusion. This study aimed to assess CAN using heart rate variability (HRV) and cardiovascular reflex tests in T2DM patients with CSA before and after PCI.

Small fiber neuropathy.

Small fiber neuropathy (SFN) is a condition involving the small nerve fibers of the peripheral nervous system, specifically the thinly myelinated Aδ and unmyelinated C fibers. It is an increasingly acknowledged condition within the spectrum of neuropathic pain disorders, leading to a rise in diagnosed patients. SFN is characterized by neuropathic pain, that is often described as burning, and typically presents in the hands and feet ascending proximally.

Cardiac autonomic neuropathy: impact on severe hypoglycemic unawareness and orthostatic hypotension in diabetic dysautonomia, a case series and review.

Diabetic autonomic neuropathy (DAN) and its associated cardiovascular autonomic neuropathy (CAN) can lead to potentially fatal complications. We analyzed two distinct cases of DAN/CAN based on comprehensive cardiovascular autonomic reflex tests (CARTs). Case 1 involves a 27-year-old patient with T1DM suffering from recurrent severe hypoglycemic unawareness due to DAN.

[MOTOR NEUROPATHY PRECEDING PRIMARY SYSTEMIC AMYLOIDOSIS].

Primary (AL) systemic amyloidosis is an uncommon disorder in which immunoglobulin light chains are deposited in the tissues as amyloid, resulting in organ dysfunction. The initial symptoms are frequent fatigue and weight loss, and common manifestations include nephrotic syndrome, cardiomyopathy, peripheral neuropathy or hepatomegaly. Histological examination reveals some degree of amyloid deposition in virtually every organ system except the central nervous system (CNS).

Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review.

Background: Hereditary sensory and autonomic neuropathy type 9 (HSAN9) is a rare genetic disorder caused by genetic alterations in the TECPR2 locus and is characterized by developmental and intellectual disability, respiratory dysfunction, gastroesophageal reflux disease (GERD), and sensory and autonomic dysfunction, which are shared among the HSAN family.

Methods: Whole-exome sequencing (WES) was performed on samples from both probands, and the relevant genetic variants were confirmed in their families using Sanger sequencing. Additionally, a comprehensive literature review was conducted on previously reported cases of HSAN9, and the clinical and genetic data were assessed to provide insight into the genetic and clinical characteristics of the disease.

Patient Reported Outcomes Due to Bladder Neck Obstruction in Women Treated With Botulinum Toxin A Injection.

Introduction: Primary bladder neck obstruction (BNO) occurs when the bladder neck fails to open during voiding, causing urinary symptoms despite no anatomic obstruction. The cause of BNO is unclear but may involve neurogenic dysregulation related to the sympathic nervous system such as upper motor neuron lesion or peripheral autonomic neuropathy (small fiber neuropathy (SFN)). Another etiology can incuded increased sympathetic tone secondary to anxiety or stress conditons.

Interleukin-1 type 1 receptor blockade attenuates the exaggerated exercise pressor reflex in male UC Davis type 2 diabetic mellitus rats.

An exaggerated exercise pressor reflex and peripheral neuropathy are both evoked by the same type of thinly myelinated afferents and are present in patients with type 2 diabetes mellitus (T2DM). Although it is known that the pro-inflammatory cytokine interleukin-1β (IL-1β) contributes to peripheral neuropathy, the effects of IL-1β on the exercise pressor reflex in T2DM are not known. Therefore, we aimed to determine the effect of IL-1 receptors on the exercise pressor reflex in T2DM.