Association between health-related quality of life and heart rate variability in elderly individuals with cognitive impairment in Korea: cross-sectional study.

Background: Cognitive impairment, a characteristic and prior stage of dementia, is a serious public health concern in Korea a country with rapidly aging population. In a neurovisceral integration model, cognitive ability is connected to emotional and autonomic regulation via an interconnection in the brain, which may be associated with health-related quality of life (HRQoL).

Methods: This study investigated the association between the HRQoL and the autonomic nervous system (ANS) via EuroQoL-5 Dimension (EQ-5D) and heart rate variability (HRV) among 417 patients who visited the Neurology Department in Veterans Health Service Medical Center, Seoul, South Korea.

Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.

Niemann-Pick type C (NPC, ORPHA: 646) is a neuro-visceral, psychiatric disease caused predominantly by pathogenic variants in the gene or seldom in . The rarity of the disease, and its wide range of clinical phenotypes and ages of onset, turn the diagnosis into a significant challenge. Other than the detailed clinical history, the typical diagnostic work-up for NPC includes the quantification of pathognomonic metabolites.

Motor Decision-Making as a Common Denominator in Motor Pathology and a Possible Rehabilitation Target.

Despite the substantial progress in motor rehabilitation, patient involvement and motivation remain major challenges. They are typically addressed with communicational and environmental strategies, as well as with improved goal-setting procedures. Here we suggest a new research direction and framework involving Neuroeconomics principles to investigate the role of Motor Decision-Making (MDM) parameters in motivational component and motor performance in rehabilitation.

Novel Mutation in the Feline Gene in Cats with Niemann-Pick Disease.

Niemann-Pick disease (NP) type C is an autosomal, recessive, and inherited neurovisceral genetic disorder characterized by the accumulation of unesterified cholesterol and glycolipids in cellular lysosomes and late endosomes, with a wide spectrum of clinical phenotypes. This study aimed to determine the molecular genetic alterations in two cases of felines with NP in Japan, a Siamese cat in 1989 and a Japanese domestic (JD) cat in 1998. Sanger sequencing was performed on 25 exons of the feline gene and 4 exons of the feline gene, using genomic DNA extracted from paraffin-embedded tissue specimens.

Heart Rate Variability as a Translational Dynamic Biomarker of Altered Autonomic Function in Health and Psychiatric Disease.

The autonomic nervous system (ANS) is responsible for the precise regulation of tissue functions and organs and, thus, is crucial for optimal stress reactivity, adaptive responses and health in basic and challenged states (survival). The fine-tuning of central ANS activity relies on the internal central autonomic regulation system of the central autonomic network (CAN), while the peripheral activity relies mainly on the two main and interdependent peripheral ANS tracts, the sympathetic nervous system (SNS) and the parasympathetic nervous system (PNS). In disease, autonomic imbalance is associated with decreased dynamic adaptability and increased morbidity and mortality.

Heart rate variability covaries with amygdala functional connectivity during voluntary emotion regulation.

The Neurovisceral Integration Model posits that shared neural networks support the effective regulation of emotions and heart rate, with heart rate variability (HRV) serving as an objective, peripheral index of prefrontal inhibitory control. Prior neuroimaging studies have predominantly examined both HRV and associated neural functional connectivity at rest, as opposed to contexts that require active emotion regulation. The present study sought to extend upon previous resting-state functional connectivity findings, examining task-related HRV and corresponding amygdala functional connectivity during a cognitive reappraisal task.

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).

Background: Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There are no published national or international consensus guidelines for the diagnosis and management of patients with ASMD.

BALB.NCT- is a unique mouse model of hereditary coproporphyria.

In humans, mutations in the coproporphyrinogen oxidase () gene can result in hereditary coproporphyria (HCP), characterized by high levels of coproporphyrin excretion in the urine and feces, as well as acute neurovisceral and chronic cutaneous manifestations. Appropriate animal models for comprehending the precise pathogenesis mechanism of HCP have not been reported that show similarities in terms of gene mutation, reduced CPOX activity, excess coproporphyrin accumulation, and clinical symptoms. As previously discovered, the BALB.

Two-dimensional and three-dimensional multiple object tracking learning performance in adolescent female soccer players: The role of flow experience reflected by heart rate variability.

Three-dimensional multiple object tracking (3D-MOT) has been used in various fields to mimic real-life tracking, especially in perceptual-cognitive skills training for soccer. Yet, the learning efficiency in 3D-MOT tasks has not been compared with 2D-MOT. Further, whether the advantage can be reflected by heart rate variability (HRV) based on the neurovisceral integration model should also be examined.

Women Emotional, Cognitive and Physiological Modes of Coping with Daily Urban Environments: A Pilot Study.

Studies on the effect of urban environments on human risk to health and well-being tend to focus on either physiological or cognitive and emotional effects. For each of these effects, several indicators have been proposed. They are determined either by a physiological-emotional theory or by a cognitive theory of direct attention.

Potential Composite Digenic Contribution of and Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study.

Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral disease characterized by progressive neurodegeneration with variable involvement of multisystemic abnormalities. Crohn's disease (CD) is an inflammatory bowel disease (IBD) with a multifactorial etiology influenced by variants in . Here, we investigated a patient with plausible multisystemic overlapping manifestations of both NPC and CD.

Endothelial Dysfunction in Acute Hepatic Porphyrias.

Acute hepatic porphyrias (AHPs) are a group of rare diseases caused by dysfunctions in the pathway of heme biosynthesis. Although acute neurovisceral attacks are the most dramatic manifestations, patients are at risk of developing long-term complications, several of which are of a vascular nature. The accumulation of non-porphyrin heme precursors is deemed to cause most clinical symptoms.

Risk of Hepatocellular Carcinoma in Patients with Porphyria: A Systematic Review.

Acute porphyrias are a group of metabolic disorders resulting in defective porphyrin synthesis and reduced heme production, which carries a risk of malignancy. Porphyrias are inborn defects in the heme biosynthesis pathway resulting in neurovisceral manifestations and cutaneous photosensitivity attacks with multi-systemic involvement. Its estimated prevalence nears 5 per 100,000 patients worldwide.

CRISPR-Cas9-Mediated NPC1 Gene Deletion Enhances HEK 293 T Cell Adhesion by Regulating E-Cadherin.

NPC1 gene encodes a transmembrane glycoprotein on the late endosome/lysosomal membrane. Its mutation leads to a rare and aggravated autosomal recessive neurovisceral condition, termed Niemann-Pick disease type C1 (NPC1), which is characterized by progressive neurodegeneration, visceral symptoms, and premature death. To investigate the influence of NPC1 gene deletion on cell morphology, adhesion, proliferation, and apoptosis, CRISPR-Cas9 technology was used to knockout the NPC1 gene in HEK 293 T cells.

Functional interplay between central and autonomic nervous systems in human fear conditioning.

Historically, studies on the neural basis of fear conditioning have emphasized the role of the central nervous system. However, there is growing evidence for the role of the autonomic nervous system in human fear conditioning. Here, we provide an overview of the sophisticated anatomical-functional interplay between the prefrontal cortex and heart-related dynamics in human fear conditioning and propose a theoretical model to conceptualize these psychophysiological processes, the neurovisceral integration model of fear (NVI-f).

Interpreting resting heart rate variability in complex populations: the role of autonomic reflexes and comorbidities.

Purpose: Resting heart rate variability (HRV) is an important biomarker linking mental health to cardiovascular outcomes. However, resting HRV is also impaired in autonomic neuropathy, a common and underdiagnosed complication of common medical conditions which is detected by testing autonomic reflexes. We sought to describe the relationship between autonomic reflex abnormalities and resting HRV, taking into consideration medical comorbidities and demographic variables.

Heart's eyes to see color: Cardiac vagal tone modulates the impact of ethnicity on selected attention under high load.

The present study tested whether cardiac vagal activity-which is known to play a vital role in social cognition and engagement-predicted the impact of faces of other ethnicity on selective attention under load. Based on the neurovisceral integration theory, we hypothesized that participants with higher resting heart rate variability (HRV) would exhibit better task performance of a target detection task in trials with face distractors of other ethnicity than participants with lower resting HRV, when cognitive resources were scarce under high load. Caucasian participants were instructed to detect a target letter among letter strings superimposed on Black or White male distractor faces under high and low perceptual load.

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Background: Niemann-Pick disease type C (NPC) is a rare lysosomal neurovisceral storage disease caused by mutations in the NPC 1 (95%) or NPC2 (5%) genes. The products of NPC1 and NPC2 genes play considerable roles in glycolipid and cholesterol trafficking, which could consequently lead to NPC disease with variable phenotypes displaying a broad spectrum of symptoms.

Materials: In the present study 35 Iranian NPC unrelated patients were enrolled.

Kidney Involvement in Acute Hepatic Porphyrias: Pathophysiology and Diagnostic Implications.

Porphyrias are a group of rare disorders originating from an enzyme dysfunction in the pathway of heme biosynthesis. Depending on the specific enzyme involved, porphyrias manifest under drastically different clinical pictures. The most dramatic presentation of the four congenital acute hepatic porphyrias (AHPs: acute intermittent porphyria-AIP, ALAD deficiency, hereditary coproporphyria-HCP, and porphyria variegata-VP) consists of potentially life-threatening neurovisceral attacks, for which givosiran, a novel and effective siRNA-based therapeutic, has recently been licensed.

Acute Hepatic Porphyrias: "Purple Flags"-Clinical Features That Should Prompt Specific Diagnostic Testing.

Background: Porphyrias are a group of rare diseases leading to dysregulation in heme biosynthesis and the accumulation of heme precursors, including porphyrinogens, which in their oxidized states [porphyrins] are reddish or purple. Acute hepatic porphyrias (AHP) comprise four diseases that cause acute debilitating neurovisceral attacks. Despite diagnostic advances, AHP is often undiagnosed or misdiagnosed due to a lack of disease awareness, low clinical suspicion, variable presentation, and nonspecific symptoms that mimic more common diseases.