- Discussion
5
- 10.1093/bja/aet099
Paroxysmal extreme pain disorder
- May 01, 2013
- British Journal of Anaesthesia
- J Beck + 2 more +2
Paroxysmal extreme pain disorder
This case study offers a detailed analysis of Autism and the effects of Holographic Kinetics on an Autistic Child with extreme Aggressive Behavioral Disorder.
Paroxysmal extreme pain disorder
Paroxysmal extreme pain disorder
Outcomes of surgical treatment for combined deformity of the first and fifth metatarsal bones in patients with cerebrovascular disorders of the lower extremities
Background. At present, the issues surrounding the surgical treatment of combined deformity of the first and fifth metatarsal bones, particularly when accompanied by cerebrovascular disorders of the lower extremities, remain unresolved. The aim of the study — to compare the outcomes of different surgical techniques used for the treatment of the fifth metatarsal bone in patients with combined deformity of the first and fifth metatarsal bones accompanied by cerebrovascular disorders of the lower extremities. Methods. This prospective randomized monocentric cohort study enrolled 70 female patients with combined deformities of the first and fifth metatarsal bones accompanied by cerebrovascular disorders of the lower extremities. Correction of the fifth metatarsal deformity was achieved through minimally invasive closed osteotomies employing two different techniques. Group I included 33 (47.1%) patients treated with a minimally invasive free-hand burring technique. Group II, consisting of 37 (52.9%) patients, was treated using a specifically developed universal guiding device. In all patients, first metatarsal deformity correction was achieved through combined scarf and Akin osteotomy of the proximal phalanx of the hallux. The duration of surgery, as well as the number of intraoperative X-rays taken and the radiation exposure, were assessed. At 6 months post-surgery, we evaluated the type and incidence of postoperative complications, pain dynamics, functional outcomes, and the degree of deformity correction according to radiographic data. Results. No statistically significant difference in operative time was found between the groups: 47.3±8.5 mins in Group I versus 51.5±9.1 mins in Group II. However, Group II demonstrated a significant reduction both in the number of intraoperative X-rays and radiation exposure: 6-8 X-rays per surgery with a mean radiation dose of 0.1-0.3 mGy, whereas Group I required up to 17-21 X-rays with a mean radiation dose of 0.4-0.6 mGy (p 0.001). The 6-month follow-up revealed a significant reduction in pain intensity according to the VAS FA scale (scores: 8 [8; 9] in Group I versus 9 [8; 10] in Group II, p 0.001) and enhanced functional status according to the AOFAS scale (scores: 72 [67; 85] in Group I versus 74 [62; 87] in Group II, p 0.001) for both groups. Conclusion. Minimally invasive osteotomies proved to be a highly effective and safe treatment modality for correcting combined deformities of the first and fifth metatarsal bones in patients with concomitant vascular and endocrine pathology. While the functional outcomes and postoperative complication rates were comparable between the two minimally invasive osteotomy techniques for the fifth metatarsal bone, the use of the developed universal guiding device significantly decreased the number of intraoperative X-rays taken and the radiation exposure.
Read moreAc Hopping Conduction at Extreme Disorder Takes Place on the Percolating Cluster
Simulations of the random barrier model show that ac currents at extreme disorder are carried almost entirely by the percolating cluster slightly above threshold; thus contributions from isolated low-activation-energy clusters are negligible. The effective medium approximation in conjunction with the Alexander-Orbach conjecture lead to an excellent analytical fit to the universal ac conductivity with no nontrivial fitting parameters.
Read moreParoxysmal extreme pain disorder (previously familial rectal pain syndrome)
To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition recently shown to be a sodium channelopathy involving SCN9A. An international consortium of clinicians, scientists, and affected families was formed. Clinical details of all accessible families worldwide were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time. A validated pain questionnaire was completed by 14 affected individuals. Seventy-seven individuals from 15 families were identified. The onset of the disorder is in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate initially, with skin flushing in all and harlequin color change and tonic attacks in most. Dramatic syncopes with bradycardia and sometimes asystole are common. Later, the disorder is characterized by attacks of excruciating deep burning pain often in the rectal, ocular, or jaw areas, but also diffuse. Attacks are triggered by factors such as defecation, cold wind, eating, and emotion. Carbamazepine is effective in almost all who try it, but the response is often incomplete. Paroxysmal extreme pain disorder is a highly distinctive sodium channelopathy with incompletely carbamazepine-sensitive bouts of pain and sympathetic nervous system dysfunction. It is most likely to be misdiagnosed as epilepsy and, particularly in infancy, as hyperekplexia and reflex anoxic seizures.
Read moreVenous Duplex Scanning in the Diagnosis and Treatment of Progressive Superficial Thrombophlebitis
Venous Duplex Scanning in the Diagnosis and Treatment of Progressive Superficial Thrombophlebitis
Reporting of Cumulative Trauma Disorders of the Upper Extremities may be Leveling off in the U.S.
Since the early 1980's reporting of cumulative trauma disorders of the upper extremities (CTDUEs) has been increasing. The past few years have seen increasing attention given to these disorders. More recently, the premise that CTDUEs should be a top priority based on the magnitude of workers' compensation insurance claims and OSHA cases has been challenged. This paper provides data indicating that the reporting of CTDUEs in the U.S. may soon level off and the rate of increase of the number of CTDUEs as a percent of all cases reported in the U.S. has already significantly declined. Data from both the Bureau of Labor Statistics and Liberty Mutual Group workers' compensation claims indicate that even though the number of CTDUEs as a percent of all cases reported has been increasing over the past ten years, the rate of increase has declined steadily since 1991. If this trend continues, CTDUE reporting will level off in 1995. Possible reasons for these trends are briefly discussed.
Read moreEvaluation of Distal Upper Extremity Musculoskeletal Load During Routine Colonoscopy
Evaluation of Distal Upper Extremity Musculoskeletal Load During Routine Colonoscopy
Paroxysmal extreme pain disorder associated with a mutation in SCN9A gene – Case report and own experiences
IntroductionPain is an unpleasant sensory and emotional experience, influenced by various factors. Paroxysmal extreme pain disorder (PEPD) is a rare genetic condition characterized by sudden bouts of pain accompanied by autonomic symptoms.Material, methods and aimThis manuscript presents the case of a 9-year-old boy with paroxysmal extreme pain syndrome and provides a review of the literature. Additionally, a genealogical analysis of the boy’s family was conducted to determine the total number of affected family members. The clinical data included an analysis of genetic tests to identify the mutation confirming PEPD.Result and conclusionA mutation in the SCN9A gene causes the disease, and due to the small number of patients worldwide (around 500, according to literature reports), an effective method of preventing extreme pain attacks had not been established at the time of writing this manuscript. Based on information from scientific sources and the authors’ experiences, it can be firmly stated that various, often difficult-to-identify factors cause paroxysmal extreme pain. This syndrome necessitates further research and the exploration of effective treatment methods.
Read moreNaV1.7 Splice Variant from Human Heart Compared with Neuronal hNaV1.7
NaV1.7 Splice Variant from Human Heart Compared with Neuronal hNaV1.7
Ethopharmacological analysis of the unstable elevated exposed plus maze, a novel model of extreme anxiety: predictive validity and sensitivity to anxiogenic agents.
The unstable elevated exposed plus maze (UEEPM) has been proposed as a novel model of anxiety which elicits unconditioned escape-related behaviour in rats thought to mimic the persistent "fight/flight" state exhibited by patients suffering from extreme anxiety disorders. This study investigated the predictive validity of the UEEPM by examining the behaviour of rats exposed to the test following administration of drugs known to induce panic and anxiety in panic disorder and post-traumatic stress disorder patients, namely m-chlorophenylpiperazine (mCPP), caffeine and yohimbine. The sensitivity of the UEEPM to two further putative anxiogenic agents, the benzodiazepine partial inverse agonist FG 7142 and pentylenetetrazole (PTZ), was also assessed. Male Hooded Lister rats received a single dose of mCPP (0.5-2.0 mg/kg; ip), caffeine (3.0-30.0 mg/kg; ip), yohimbine (1.25-5.0 mg/kg; ip), FG 7142 (3.0-30.0 mg/kg; ip) or PTZ (3.0-30.0 mg/kg; ip) before being exposed to the UEEPM for a period of 5 min. Subjects' behaviour was analysed to determine the effects of each compound on unconditioned escape. mCPP (1.0 and 2.0 mg/kg), caffeine (30 mg/kg), FG 7142 (3.0 and 30.0 mg/kg) and PTZ (30.0 mg/kg) significantly increased animals' propensity to escape from the UEEPM, i.e. they had a clear anxiogenic effect, whilst yohimbine had no effect on escape. The UEEPM is sensitive to the behavioural effects of anxiogenic agents. Furthermore, pharmacological similarities exist between symptoms of panic and anxiety in patients and escape from the UEEPM in rats. The UEEPM may therefore represent a paradigm to facilitate investigation into the neurochemical basis of extreme anxiety disorders.
Read moreNovel mutation of SCN9A gene in a family with Paroxysmal Extreme Pain Disorder (PEPD): Considerations of paediatric interest
Introduction: Paroxysmal Extreme Pain Disorder (PEPD) is a rare autosomal dominant disease, caused by mutations in the SCN9A gene, which encodes the NaV1.7 voltage-gated sodium channel alpha subunit. Symptoms generally begin in early infancy with episodes of excruciating, burning and spreading pain in the lower part of the body, typically in the anorectal area, which can last from seconds to hours. Case description: We describe the case of a 5-year-old male with PEPD and a novel heterozygous mutation c.5825c>T (p. Thr1942ile) in the SCN9A gene. This is a novel mutation that has not previously been reported. Discussion: According to the available information, the clinical significance of the variant c.5825c>T (p. Thr1942ile) is unknown. However, its presence in the patient and in others affected family members, reinforces its possible pathogenicity and is suggestive of mutation segregation with the disease in this family. Conclusion: We consider that it is a family case of interest to the pediatrician, for allowing: 1) To be able to intuit it by the clinic early and 2) To be able to confirm it by means of the corresponding genetic study.
Read more20. Case Study of an Epidemic of Upper Extremity Disorders in a Corporate Office
20. Case Study of an Epidemic of Upper Extremity Disorders in a Corporate Office
Abnormal illness behaviour: childhood experiences and long-term consequences
Concepts of illness and related beliefs and behaviours are often inappropriate to health state. They develop in childhood and we review the processes that are often involved, which are influenced by ethnic, cultural, demographic, social, psychological and biological factors. Unusual patterns of care experienced by some children and the inappropriate illness behaviours of those with particular influence over them play a central part in the development of the most extreme disorders. Prospective studies are limited but indicate that patterns of illness behaviour in childhood are often persistent and continue or recur in adult life. Inappropriate patterns of invalidism are common in children and adults and the poor prognosis, considerable costs and personal distress indicate the need for primary prevention as well as more active intervention for those who are at particular risk.
Read moreLattice thermal conductivity of multi-component alloys
Lattice thermal conductivity of multi-component alloys
Effetti di scala sulla resistenza a trazione dei materiali
The dissertation analyses the scale effects on the tensile strength of materials. By the term scale effects it is meant the variation in a mechanical property as a function of structural size. In particular, it has been observed by numerous investigators that the nominal tensile strength of many materials decreases with increasing size of the specimen tested. This phenomenon is more evident in disordered materials, that is, materials that are macroscopically heterogeneous and damaged. On the basis of Weibull's statistical theory and the principles of Linear Elastic Fracture Mechanics, a self-similarity distribution for defect size is presented (Chapter 4). With this distribution the length of the most critical defect is taken to be proportional to the linear size of the specimen. It is shown that the assumption of self-similarity represents the instance of maximum disorder that can be encountered in real materials, and it supplies, in a strength-size bilogarithmic plane, a linear scaling law with an inclination of -1/2, corresponding to the power of the stress singularity envisaged by LEFM. This formulation contains the fractal concept of self-similarity, even though it is limited to maximum defect dimension. In order to consider the real nature of the micro-structure of the materials, a more complex fractal model is presented (Chapter 5) in which the property of self-similarity is extended to the entire population of defects. This topological law, based on fractal theory and on the so-called renormalisation procedure, states that in order to obtain a nominal constant strength for the material it is necessary to refer to surface areas with non integer physical dimensions. For disordered materials, such as for instance concrete and rocks, renormalised tensile strength is given by a force acting on a surface having a fractal dimension lower than 2. The dimensional decrease, always comprised in the [0, 1/2] range, represents self-similar vacancies in the undamaged section associated with the presence of pores, voids, defects, cracks, aggregate and inclusions, and it approaches the 1/2 limit only for extremely brittle and disordered materials, as is assumed, incidentally, in statistical approaches. As a rule, the scale variation taken into consideration in experimental investigations does not exceed one order of magnitude. In such circumstances, it is only possible to determine a single tangential inclination in the bilogarithmic diagram. Only by taking into account scale variations higher than one order of magnitude it proves possible to detect the transition from disordered to ordered conditions, and a continuous transition from -1/2 to zero inclination may be seen to appear. In physical reality, the peak load resistant section can be viewed as multifractal, of dimension 1.5 on small scales and dimension 2 at large scales. This clearly shows a transition from the extreme disorder that is associated with small scales, where a self-similar distribution of Griffith cracks predominates, to the extreme order of large scales, where the disorder of the microstructure is no longer visible, on account of the limited dimensions of the defects and heterogeneities. The assumption of multifractality for the microstructure of the damaged material (Chapter 7) is the basis of the so-called Multifractal Scaling Law (MFSL). Such law consists of an approximation method which imposes the concavity of the bilogarithmic curve facing upward, which contradicts Bazant's size effect law (SEL). To verify this scaling law and to determine experimentally the variation in nominal tensile strength and fracture energy, a totally innovative testing set-up has been created, involving the use of three servo-controlled jacks (Chapter 5). The interaction of the three jacks, arranged in L formation, makes it possible to centre instant by instant the resultant of the load with the respect to the undamaged section even in the presence of
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