This article is a comprehensive review of recent studies of the authors on the indication of mental health from biological information contained in pulse waves. A series of studies discovered that the largest Lyapunov exponent (LLE) of the attractor, which is constructed for the time series data from pulse waves, can provide as an effective indicator of mental health. A low level of LLE indicates insufficiency of external adaptability, which is characteristic of dementia and depression sufferers. On the contrary, a continuous high level of LLE indicates excessive external adaptability, and people in this condition tend to resort to violence. With this discovery, real-time display of the LLE, combined with other physiological indexes such as the autonomic nerve balance (ANB), sample entropy, and vascular age, as a reference, can enable people to conduct self-check of mental status. To this end, software development was performed in order to enable users to conduct pulse wave measurement anywhere at any time and display the analytical results in real time during the measurement.

Acute porphyria is a group of rare disorders in the biosynthesis pathway of heme that can result in severe neurovisceral attacks leading to morbidity and mortality. Perioperative complications have been largely prevented due to avoidance of precipitants and early treatment of symptoms. However, these measures may not always be successful, because not all physiological stressors can be evaded. This case illustrates a porphyria attack precipitated by prolonged cardiopulmonary bypass that manifested as postoperative delayed emergence, failure to wean from mechanical ventilation, autonomic insufficiency requiring significant vasoactive agents, and, ultimately, failure to thrive. The patient passed after withdrawal of care.

Multiple-system atrophy (MSA) is a neurodegenerative disease characterized by autonomic failure with various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. We previously reported that functionally impaired variants of COQ2, which encodes an essential enzyme in the biosynthetic pathway of coenzyme Q10, are associated with MSA. Here, we report functional deficiencies in mitochondrial respiration and the antioxidative system in induced pluripotent stem cell (iPSC)-derived neurons from an MSA patient with compound heterozygous COQ2 mutations. The functional deficiencies were rescued by site-specific CRISPR/Cas9-mediated gene corrections. We also report an increase in apoptosis of iPSC-derived neurons from MSA patients. Coenzyme Q10 reduced apoptosis of neurons from the MSA patient with compound heterozygous COQ2 mutations. Our results reveal that cellular dysfunctions attributable to decreased coenzyme Q10 levels are related to neuronal death in MSA, particularly in patients with COQ2 variants, and may contribute to the development of therapy using coenzyme Q10 supplementation.

Allgrove or triple A syndrome (AS or AAA) is a rare autosomal recessive syndrome with variable phenotype due to mutations in AAAS gene which encodes a protein called ALADIN. Generally, it's characterized by of adrenal insufficiency in consequence of adrenocorticotropic hormone (ACTH) resistance, besides of achalasia, and alacrimia. Neurologic features are varied and have been the subject of several case reports and reviews. A few cases of Allgrove syndrome with motor neuron disease have been already described. A 25-year-old white man, at the age of four, presented slowly progressive distal amyotrophy and weakness, autonomic dysfunction, dysphagia and lack of tears. He suffered later of orthostatic hypotension and erectile dysfunction. He presented distal amytrophy in four limbs, tongue myofasiculations, alacrimia, hoarseness and dysphagia due to achalasia. The ENMG showed generalized denervation with normal conduction velocities. Genetic testing revealed 2 known pathogenic variants in the AAAS gene (c.938T>C and c.1144_1147delTCTG). Our case presented a distal spinal amyotrophy with slow evolution and symptoms and signs of AS with a mutation in AAAS gen. Some cases of motor neuron disease, as ours, may be due to AAS. Early diagnosis is extremely important for symptomatic treatment.

Background Triple A syndrome is characterized by achalasia, alacrima and adrenal insufficiency with neurological manifestations occurring later in the course of the disease. It occurs due to biallelic mutations in the AAAS gene which codes for the nuclear pore protein ALADIN. A number of other features have been reported over time in this heterogeneous and multisystemic disorder. Unlike other autosomal recessive disorders, triple A syndrome patients show a wide phenotypic variability both among different patients and family members harboring the same mutation(s). A gene-environment interaction has been thought to be a plausible cause. Methods A retrospective analysis of six families and seven patients presenting with triple A syndrome was carried out. The clinical, biochemical and molecular testing data were collected and correlated. The results of treatment and follow-up and genetic counseling of the families were obtained wherever feasible. Results Our cohort consisted mostly of children and displayed a wide phenotypic variability in the presenting symptoms ranging from hypoglycemic seizures at the severe end of the spectrum to insidious hyperpigmentation and delayed development. Neurological and autonomic features were present in a few patients, suggesting requirement of prolonged follow-up for these patients. A significant gap between the onset of symptoms and confirmatory diagnosis was noted, suggesting that a high index of suspicion is required for diagnosing this disorder. Sudden unexplained death was observed in siblings, and early diagnosis and treatment could help in preventing early mortality and improving the quality of life for these patients. Conclusion High index of suspicion for a potentially treatable disorder allows early appropriate intervention.

Congestive heart failure (CHF) is characterized by reduced heart rate variability. Although various methods to achieve parasympathetic withdrawal and sympathetic activation have been documented, stimulation of the vagal nerve (that is, vagal maneuvers) has not often been used to assess the autonomic impairment associated with disease progression in veterinary species. In this study, we investigated cardiac autonomic control in a naturally occurring canine model of mitral insufficiency by means of individual responses to oculocardiac reflex. Indices of heart rate variability were calculated from 5-min ECG tracings obtained before and after ocular compression. After compression, significant increases in the standard deviation of RR intervals, root mean square of the successive differences in RR intervals, and vasovagal tonus index were documented in healthy control animals. In addition, these indices were increased in asymptomatic dogs with remodeled hearts, but no variation occurred in symptomatic animals. Although only the percentage change in vasovagal tonus index differed significantly between controls and diseased dogs, all other parameters showed a tendency to behave the opposite way in the symptomatic group as in the control and asymptomatic groups. Our results document CHF-dependent autonomic dysfunction in a canine model of valve insufficiency.