Anesthetical Management of a Patient with Hereditary Muscle Sensory Neuropathy Type 2: Case of a 17-Year Old with Sacral Dermoid and a Short Overview of the Anesthesiological Considerations

We hereby present a short overview of the anaesthesiological considerations regarding the patient with Charcot-Marie-Tooth disease also known as hereditary muscle and sensory neuropathy, which affects peripheral nerves and muscles. Due to pathophysiology of the disease certain anaesthesiological complications associated with HMSN can be related. A case report describing protocol of the total venous anesthesia in the 17-year old patient operated on sacral dermoid with fistulae is presented. The patient recovered without any further complications. In the conclusion we would like to bring the importance of awareness to prepare the HMSN patient for a surgical procedure as well from anesthesiological as from surgical point of view to avoid possible unwanted event such as malignant hyperthermia, hyperkalemia, seizures, prolonged effect of muscle relaxants and worsening of the disease. As an important alternative to general anesthesia regional anesthesia should be considered.

Altered physiology of gastrointestinal vagal afferents following neurotrauma

The adaptability of the central nervous system has been revealed in several model systems.Of particular interest to central nervous system-injured individuals is the ability for neural components to be modified for regain of function.In both types of neurotrauma,traumatic brain injury and spinal cord injury,the primary parasympathetic control to the gastrointestinal tract,the vagus nerve,remains anatomically intact.However,individuals with traumatic brain injury or spinal cord injury are highly susceptible to gastrointestinal dysfunctions.Such gastrointestinal dysfunctions attribute to higher morbidity and mortality following traumatic brain injury and spinal cord injury.While the vagal efferent output remains capable of eliciting motor responses following injury,evidence suggests impairment of the vagal afferents.Since sensory input drives motor output,this review will discuss the normal and altered anatomy and physiology of the gastrointestinal vagal afferents to better understand the contributions of vagal afferent plasticity following neurotrauma.

Identifying Unique Protein Alterations Caused by SPTLC1 Mutations in a Transfected Neuronal Cell Model

Hereditary sensory neuropathy type I is an autosomal dominant disorder that affects the sensory neurons. Three missense mutations in serine palmitoyltransferase long chain subunit 1 cause hereditary sensory neuropathy type I. The endoplasmic reticulum, where the serine palmitoyltransferase long chain subunit 1 protein resides, and mitochondria are both altered in hereditary sensory neuropathy type I mutant cells. Employing a transfected neuronal cell line (ND15), we have identified and confirmed altered protein expression levels of ubiquinol cytochrome C, Hypoxia Up regulated Protein 1, Chloride Intracellular Channel Protein 1, Ubiqutin-40s Ribosomal Protein S27a, and Coactosin. Additionally, further 14 new proteins that exhibited altered expression within V144D, C133W and C133Y mutants were identified. These data have shown that mutations in SPTLC1 alter the expression of a set of proteins that may help to establish a causal link between the mitochondria and ER and the “dying back” process of dorsal root ganglion neurons that occurs in HSN-I.

Antinociceptive activity of transient receptor potential channel TRPV1, TRPA1, and TRPM8 antagonists in neurogenic and neuropathic pain models in mice

The aim of this research was to assess the antinociceptive activity of the transient receptor potential （TRP） channel TRPV1, TRPM8, and TRPA1 antagonists in neurogenic, tonic, and neuropathic pain models in mice. For this purpose, TRP channel antagonists were administered into the dorsal surface of a hind paw 15 min before capsaicin, allyl isothiocyanate （AITC）, or formalin. Their antiallodynic and antihyperalgesic efficacies after intraperitoneal ad- ministration were also assessed in a paclitaxel-induced neuropathic pain model. Motor coordination of paclitaxel- treated mice that received these TRP channel antagonists was investigated using the rotarod test. TRPV1 antagonists, capsazepine and SB-366791, attenuated capsaicin-induced nociceptive reaction in a concentration-dependent manner. At 8 pg/20 pl, this effect was 51% （P〈0.001） for capsazepine and 37% （P〈0.05） for SB-366791. A TRPA1 antagonist, A-967079, reduced pain reaction by 48% （P〈0.05） in the AITC test and by 54% （P〈0.001） in the early phase of the formalin test. The test compounds had no influence on the late phase of the formalin test. In paclitaxel-treated mice, they did not attenuate heat hyperalgesia but N-（3-aminopropyl）-2-{[（3-methylphenyl）methyl]oxy}-N-（2-thienylmethyl） benzamide hydrochloride salt （AMTB）, a TRPM8 antagonist, reduced cold hyperalgesia and tactile allodynia by 31% （P〈0.05） and 51% （P〈0.01）, respectively. HC-030031, a TRPA1 channel antagonist, attenuated tactile allodynia in the von Frey test （62%; P〈0.001）. In conclusion, distinct members of TRP channel family are involved in different pain models in mice. Antagonists of TRP channels attenuate nocifensive responses of neurogenic, tonic, and neuropathic pain, but their efficacies strongly depend on the pain model used.

Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis:a case report with 7-year follow-up

Congenital insensitivity to pain is a rare disorder, first described by Dearborn in 1932. Since the discovery of congenital insensitivity to pain with anhidrosis or hereditary sensory neuropathy type Ⅳ in 1983, fewer than 60 cases have been reported. Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis is a very rare disorder characterized by absence of painful perception after birth. Severe problems may arise if pain sensation is absent, causing injury to oral structures as teeth, lips and the tongue by self mutilation. The patient is at a risk of late presentation with systemic illnesses associated with pain, such as fracture and joint dislocation. Importantly, the patient may suffer from acro-osteolysis with growth, for instance, osteolysis of the distal extremities.