Heterogeneity of clinical features and mutation analysis of in Han Chinese patients with congenital insensitivity to pain with anhidrosis.

Purpose: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited disorder whose core clinical features consist of no response to noxious stimuli and inability to sweat under any conditions. Our goal was to characterize the details of phenotypic and genotypic features in Chinese CIPA patients.

Patients And Methods: Personal data and clinical information were investigated by interview and physical examination.

Phenotypic and genotypic features of a pair of Chinese identical twins with congenital insensitivity to pain and anhidrosis: A case report.

Rationale: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disorder characterized by insensitivity to noxious stimulus and the absence of sweating. Fractures and joint destruction are common complications, but detailed studies on mineral and skeletal homeostasis are not available. Mental retardation is often reported, but detailed observations during childhood are lacking.

Increased Na1.7 expression in the dorsal root ganglion contributes to pain hypersensitivity after plantar incision in rats.

Postoperative pain remains a complex problem that is difficult to manage in the clinical context, seriously affecting rehabilitation and the quality of life of patients after surgery. Nociceptors, of which the cell bodies are located in the dorsal root ganglion, are crucial for initiating and conducting the pain signal. The peripheral voltage-gated sodium channels, including Na1.

A variant in the SCN10A enhancer may affect human mechanical pain sensitivity.

Expression of Nav1.8, encoded by SCN10A, can affect pain transmission and thus mediate the human pain phenotype. In the current study, we assessed whether the variant rs6801957, located in the SCN10A enhancer region, may have the potential to affect human pain.

Associations between single-nucleotide polymorphisms in the NTRK1 gene and basal pain sensitivity in young Han Chinese women.

Objectives: The NTRK1 gene plays an important role in sensory and sympathetic neuronal survival. Mutations in this gene cause a rare hereditary disease known as congenital insensitivity to pain with anhidrosis. The aim of this study was to explore possible associations between single-nucleotide polymorphisms (SNPs) in NTRK1 and pain perception in a selected population.

SCN11A variants may influence postoperative pain sensitivity after gynecological surgery in Chinese Han female patients.

Nav1.9, encoded by sodium voltage-gated channel alpha subunit 11 (SCN11A), is one of the main sodium channels involved in pain transmission. Dysfunction of Nav1.

Effects of Epidemiological Factors and Pressure Pain Measurements in Predicting Postoperative Pain: A Prospective Survey of 1,002 Chinese Patients.

Background: A high degree of inter-individual differences was noted in human basal pain as well as the reporting of clinical pain, such as postoperative pain. Understanding the effects of common epidemiological variations and preoperative experimental methods of human pain perception may contribute to individualized pain treatment for patients.

Objectives: The current study was aimed to assess the role of epidemiological factors and preoperative experimental pain sensitivity for predicting postoperative pain and to analyze the potential effects of epidemiological factors on experimental pain sensitivity.

Anesthetic management during adenotonsillectomy for twins with congenital insensitivity to pain with anhidrosis: two case reports.

Background: Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by hyperpyrexia, anhidrosis, pain insensitivity, self-inflicted injuries, and intellectual disability. The anesthetic management of these patients is challenging owing to the high risk of perioperative complications resulting from their autonomic dysfunction, such as hyperthermia, hypotension, and bradycardia, which result from autonomic nervous system dysfunction.

Case Presentation: Two 3-year-old Han Chinese identical male twins (weighing 13.

A SCN10A SNP biases human pain sensitivity.

Background: Nav1.8 sodium channels, encoded by SCN10A, are preferentially expressed in nociceptive neurons and play an important role in human pain. Although rare gain-of-function variants in SCN10A have been identified in individuals with painful peripheral neuropathies, whether more common variants in SCN10A can have an effect at the channel level and at the dorsal root ganglion, neuronal level leading to a pain disorder or an altered normal pain threshold has not been determined.

To predict sufentanil requirement for postoperative pain control using a real-time method: A prospective observational cohort study.

Preoperative identification of individual sensitivity to opioid analgesics could improve the quality of postoperative analgesia. We explored the feasibility and utility of a real-time assessment of sufentanil sensitivity in predicting postoperative analgesic requirement.Our primary study included 111 patients who underwent measurements of pressure and quantitative pricking pain thresholds before and 5 minutes after sufentanil infusion.

Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis.

Background: Congenital insensitivity to pain with anhidrosis is an extremely rare hereditary disorder linked to variants in NTRK1. Our goal was to characterize the clinical features and the genetic basis of the disorder in Chinese patients.

Methods: Patients were enrolled via social networking.

Genotypic Analysis of SCN9A for Prediction of Postoperative Pain in Female Patients Undergoing Gynecological Laparoscopic Surgery.

Background: The SCN9A gene product is a critical component in human pain perception. Recent studies found that single-nucleotide polymorphisms (SNPs) in this gene contributed to the risk and severity of common pain phenotypes.

Objectives: In this study, we aimed to assess the use of SCN9A SNP screening for predicting postoperative pain.

The Effect of SCN9A Variation on Basal Pain Sensitivity in the General Population: An Experimental Study in Young Women.

Unlabelled: SCN9A is a key player in various rare monogenic pain disorders, including absence of pain or extreme pain, indicating that SCN9A is critical in human pain perception. This study aimed to investigate the association between the single-nucleotide polymorphisms (SNPs) in SCN9A and basal pain sensitivity variability in the general population. We used a combined tag and candidate SNP approach to explore possible associations between SCN9A SNPs and basal pain sensitivity in 309 healthy female Chinese undergraduates.

Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report.

Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare autosomal recessively inherited disorder. The main clinical features of the disorder consist of absence of reactions to noxious stimuli and inability to sweat under any conditions.In this case report, a 3-year-old Chinese boy diagnosed with CIPA presented with the core features of CIPA, including insensitivity to noxious stimuli, self-mutilation, inability to sweat, and developmental delay.

[Comparison of sufentanil-tramadol PCIA between laparoscopic cholecystectomy and gynecological laparoscopy].

Objective: To compare the differences of postoperative patient-controlled intravenous analgesia for laparoscopic cholecystectomy and gynecological laparoscopy in female patients.

Methods: This retrospective study included 645 female patients received laparoscopic cholecystectomy or gynecological laparoscopy (laparoscopic oophorocystectomy/myomectomy) between January 2011 and July 2012 in Tongji Hospital. Among them, 207 cases of sufentanil-tramadol patient-controlled intravenous analgesia (PCIA) were enrolled and divided into 2 groups:77 cases in laparoscopic cholecystectomy group, and 130 cases in gynecological laparoscopy group.

A new real-time method for detecting the effect of fentanyl using the preoperative pressure pain threshold and Narcotrend index: a randomized study in female surgery patients.

Individual variability in the effects of opioid analgesics such as fentanyl remains a major challenge for tailored pharmacological treatment including postoperative analgesia. This study aimed to establish a new real-time method for detecting the effects of fentanyl and their individual differences in the preoperative period, using the pressure pain threshold (PPT) and Narcotrend index (NTI) test.Eighty women undergoing elective surgery under general anesthesia were enrolled in this randomized, double-blinded, placebo-controlled study to receive either intravenous fentanyl (Group F) or saline (Group S).

An improvement of mechanical pain sensitivity measurement method: the smaller sized probes may detect heterogeneous sensory threshold in healthy male subjects.

Objective: On the basis of our experience in the application of the mechanical algometer and a number of pilot experiments, we speculated that 0.1- and 0.01-cm(2) probes might improve the measurement of mechanical pain sensitivity relative to the conventional 1-cm(2) probe.