- [Effect of vitamin D deficiency on cardiac autonomic nerve function in obese pre-school children]. [Journal Article]
- ZDZhongguo Dang Dai Er Ke Za Zhi 2018; 20(9):753-757
- CONCLUSIONS: Obese pre-school children with VitD insufficiency or deficiency have cardiac autonomic dysfunction, and cardiac vagal tone decreases with the reduction in VitD level.
- Allgrove syndrome and motor neuron disease. [Journal Article]
- NINeurol Int 2018 May 24; 10(2):7436
- 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 character...
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.
- Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases. [Journal Article]
- JPJ Pediatr Endocrinol Metab 2018 Jul 26; 31(7):799-807
- 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 bialleli...
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.
- Using the Oculocardiac Reflex to Characterize Autonomic Imbalance in a Naturally Occurring Canine Model of Valvular Insufficiency. [Journal Article]
- CMComp Med 2018 Apr 02; 68(2):156-162
- Congestive heart failure (CHF) is characterized by reduced heart rate variability. Although various methods to achieve parasympathetic withdrawal and sympathetic activation have been documented, stim...
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.
- Evaluation of cardiac autonomic functions in myasthenia gravis. [Journal Article]
- NRNeurol Res 2018; 40(5):405-412
- CONCLUSIONS: These results suggest that sympathovagal balance has been disturbed in favour of sympathetic tone and that parasympathetic insufficiency has become more prominent. The current findings support the presence of cardiac autonomic involvement in patients with MG. The determination of cardiac autonomic function via noninvasive methods among patients with MG has high predictive value. The identification of autonomic dysfunction at an early stage and the early treatment of cardiovascular diseases can reduce morbidity and mortality.
- Chronic kidney disease and poor outcomes in ischemic stroke: is impaired cerebral autoregulation the missing link? [Journal Article]
- BNBMC Neurol 2018 Mar 02; 18(1):21
- CONCLUSIONS: Lower renal function correlates with less effective dynamic cerebral autoregulation in acute ischemic stroke, both predicting a bad outcome. The evaluation of serum biomarkers of renal dysfunction could have interest in the future for assessing cerebral microvascular risk and relationship with stroke complications.
- AAA Syndrome, Case Report of a Rare Disease. [Journal Article]
- PJPak J Med Sci 2017 Nov-Dec; 33(6):1512-1516
- Triple A (Allgrove) syndrome, an autosomal recessive disease is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure with progressive neurological syndrome including central, peri...
Triple A (Allgrove) syndrome, an autosomal recessive disease is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure with progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation. The triple A syndrome gene, designated AAAS, localized on chromosome 12q 13 encodes for a 546 amino acid protein called ALADIN (Alacrimia-Achlasia-Adrenal Insufficiency and Neurologic disorder). This report relates to two sisters, aged 8 and 12 years, who had vomiting, muscle weakness, alacrimia, excessive fatigue and dysphagia. Abdominal sonography, esophago-gastroduodenoscopy, barium swallow, esophageal manometry, CT scan abdomen and brain, biochemical profiles, as well as neurologic and ophthalmic evaluations were consistent with Allgrove's syndrome. Management consisted of pneumatic balloon dilatation for achalasia and initiation of cortisone therapy with successful resolution of dysphagia and other symptoms.
- "Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports. [Case Reports]
- BPedBMC Pediatr 2018 01 15; 18(1):6
- CONCLUSIONS: These two patients illustrate the heterogeneity of triple A syndrome in both terms, clinical expression and genetic testing. We particularly aim to stress the importance of alacrima, which should be considered as a red flag symptom. Further differential diagnosis is required in every child affected by alacrima.
- Recurrent laryngeal nerve reinnervation for management of aspiration in a subset of children. [Case Reports]
- IJInt J Pediatr Otorhinolaryngol 2018; 104:104-107
- Pediatric aspiration is a multifactorial process that is often complex to manage. Recurrent laryngeal nerve (RLN) injury can cause glottic insufficiency and aspiration. We describe three cases of uni...
Pediatric aspiration is a multifactorial process that is often complex to manage. Recurrent laryngeal nerve (RLN) injury can cause glottic insufficiency and aspiration. We describe three cases of unilateral vocal fold paralysis resulting in aspiration and the successful use of the RLN reinnervation for its treatment. The theory for utilizing the reinnervation procedure is that when glottic closure improves and a less breathy vocalization occurs, then the larynx is better equipped to protect the lower airway and avoid aspiration. Our cases demonstrate stronger voice and improved swallow function, with normalization of modified barium swallow evaluation, at approximately 6-months post reinnervation.
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- Sodium Homeostasis in Chronic Kidney Disease. [Review]
- ACAdv Chronic Kidney Dis 2017; 24(5):325-331
- The pathologic consequences of sodium retention in the CKD population can lead to hypertension, edema, and progressive disease. Sodium excess is responsible for increases in oxidative stress, which a...
The pathologic consequences of sodium retention in the CKD population can lead to hypertension, edema, and progressive disease. Sodium excess is responsible for increases in oxidative stress, which alters kidney vasculature. As progression of CKD occurs, hyperfiltration by remaining nephrons compensates for an overall decrease in the filtered load of sodium. In the later stages of CKD, compensatory mechanisms are overcome and volume overload ensues. Nephrotic syndrome as it relates to sodium handling involves a different pathophysiology despite a common phenotype. Extrarenal sodium buffering is also examined as it has significant implications in the setting of advanced CKD.