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Showing "Genetic Analysis Thyrotoxic Periodic Paralysis" PubMed Articles 1–25 of 35,000+

The Long Exercise Test in Periodic Paralysis: A Bayesian Analysis.

The long exercise test (LET) is used to assess the diagnosis of periodic paralysis (PP), but LET methodology and normal "cut-off" values vary.

Periodic fever syndromes.

Periodic fever syndromes (PFS) are characterised by recurrent fever and excessive systemic inflammation. These rare and hereditary syndromes include familial Mediterranean fever, tumour necrosis factor receptor-1 associated periodic syndrome, mevalonate kinase deficiency and cryopyrin-associated periodic syndrome. Each PFS has distinct clinical and genetic features. Availability of improved genetic methods has improved the understanding of the syndromes and diagnostic testing. The main complication is syste...

Looking for periodic paralysis: Optimizing the long exercise test.

Muscle biopsy displaying "double trouble" pathology: Combined features of periodic paralysis and dermatomyositis.

Molecular genetic analysis for periodic fever syndromes: a supplemental role for the diagnosis of adult-onset Still's disease.

Adult-onset Still's disease (AOSD) represents a systemic autoinflammatory disease (SAID), and its diagnostic criteria are clinical without genetic testing. Given shared manifestations between AOSD and hereditary SAIDs, molecular analysis may help differentiate these diseases. A PubMed literature search was conducted using key words "adult-onset Still's disease," "autoinflammatory disease," and "genetic mutation" between 1970 and February 2018. Articles on genetic mutations in the genes MEFV, TNFRSF1A, meval...

Neurophysiologic characterization of periodic paralysis episode in a patient with Andersen-Tawil syndrome.

Bilateral Post-Traumatic Facial Paralysis That Contains Longitudinal and Transverse Temporal Fracture.

Acute bilateral post-traumatic facial paralysis is rare in the literature. Post-traumatic facial paralysis is frequently accompanied transverse fractures of temporal more. The incidence of acute bilateral post-traumatic facial paralysis has been reported as 1 to 5 per million in the literature. Trauma and concurrent facial paralysis are usually in the same subsite (right temporal bone fracture and right facial paralysis). There is one pathophysiological pattern for a single temporal bone fracture in a subsi...

Burn Injuries in Patients with Paralysis: A National Perspective on Injury Patterns and Outcomes.

The affect of paralysis-related comorbidities on outcomes in burn-injured patients has not been explored. We hypothesize that comorbid paralysis is associated with increased morbidity in this population. All burned patients with prior diagnoses of paralysis were identified from the National Burn Repository (Version 8.0). One-to-one matching of nonparalyzed burn-injured patients was performed, and nonparametric analysis was used to compare the groups. We identified 432 paralyzed patients, who were predominan...

Facial Paralysis in Patients With Hemifacial Microsomia: Frequency, Distribution, and Association With Other OMENS Abnormalities.

Although facial paralysis is a fundamental feature of hemifacial microsomia, the frequency and distribution of nerve abnormalities in patients with hemifacial microsomia remain unclear. In this study, the authors classified 1125 cases with microtia (including 339 patients with hemifacial microsomia and 786 with isolated microtia) according to Orbital Distortion Mandibular Hypoplasia Ear Anomaly Nerve Involvement Soft Tissue Dependency (OMENS) scheme. Then, the authors performed an independent analysis to de...

When muscle Cachannels carry monovalent cations through gating pores: insights into the pathophysiology of type 1 hypokalemic periodic paralysis.

Patients suffering from type 1 hypokalemic periodic paralysis (HypoPP1) experience attacks of muscle paralysis associated with hypokalemia. The disease arises from missense mutations in the gene encoding the α1 subunit of the dihydropyridine receptor (DHPR), a protein complex anchored in the tubular membrane of skeletal muscle fibres which controls the release of Cafrom sarcoplasmic reticulum and also functions as a Cachannel. The vast majority of mutations consist in the replacement of one of the outer ar...

Causation of Acute Flaccid Paralysis by Myelitis and Myositis in Enterovirus-D68 Infected Mice Deficient in Interferon αβ/γ Receptor Deficient Mice.

Enterovirus D68 (EV-D68) caused a large outbreak in the summer and fall of 2014 in the United States. It causes serious respiratory disease, but causation of associated paralysis is controversial, because the virus is not routinely identified in cerebrospinal fluid. To establish clinical correlates with human disease, we evaluated EV-D68 infection in non-lethal paralysis mouse models. Ten-day-old mice lacking interferon responses were injected intraperitoneally with the virus. Paralysis developed in hindlim...

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.

Whole-genome sequencing (WGS) as a first-tier diagnostic test could transform medical genetic assessments, but there are limited data regarding its clinical use. We previously showed that WGS could feasibly be deployed as a single molecular test capable of a higher diagnostic rate than current practices, in a prospectively recruited cohort of 100 children meeting criteria for chromosomal microarray analysis. In this study, we report on the added diagnostic yield with re-annotation and reanalysis of these WG...

Anxiety, depression, and hopelessness in patients before and after treatment for peripheral facial paralysis.

We conducted a prospective study to investigate the effectiveness of pharmacologic treatment on alleviating facial paralysis, as well as the anxiety and depression that are associated with it. Our study population was made up of 105 patients-59 men and 46 women, aged 18 to 60 years (mean: 38.2)-who had acute idiopathic peripheral facial paralysis. Before treatment, paralysis was classified as House-Brackmann grade II or III in 44 patients (41.9%) and grade IV to VI in the remaining 61 (58.1%). After treatme...

Robust genetic interaction analysis.

For the risk, progression, and response to treatment of many complex diseases, it has been increasingly recognized that genetic interactions (including gene-gene and gene-environment interactions) play important roles beyond the main genetic and environmental effects. In practical genetic interaction analyses, model mis-specification and outliers/contaminations in response variables and covariates are not uncommon, and demand robust analysis methods. Compared with their nonrobust counterparts, robust geneti...

Hemidiaphragmatic paralysis: A case report.

Hemidiaphragmatic paralysis is initially recognised as postoperative respiratory distress. The subsequent sequential management of the patient following arthroscopic shoulder surgery under interscalene block is described. Ultrasound-guided technique is considered to be the safest for interscalene block. Reducing the volume of anaesthetic used reduces its spread to the phrenic nerve and thus reduces the incidence of hemidiaphragmatic paralysis. Furthermore, a reduction in anaesthetic volume has equivalent an...

Unilateral acne after facial palsy.

We describe a case of unilateral acne which appeared after an episode of facial nerve palsy. An 18-year-old female patient presented with papules and pustules predominantly located on the side where the facial paralysis occurred. The patient suffered right facial paralysis, which was treated with prednisone and kinesiotherapy with massages, electrostimulation, and infrared light. Two weeks later, acne lesions appeared in the area affected by the paralysis. As suggested in other cases of paralysis, including...

Tick Paralysis: Solving an Enigma.

In comparison to other arachnids, ticks are major vectors of disease, but less than 8% of the known species are capable of inducing paralysis, as compared to the ~99⁻100% arachnids that belong to venomous classes. When considering the potential monophyly of venomous Arachnida, this review reflects on the implications regarding the classification of ticks as venomous animals and the possible origin of toxins. The origin of tick toxins is compared with scorpion and spider toxins and venoms based on their si...

On detection of periodicity in C-reactive protein (CRP) levels.

C-reactive protein (CRP) is an acute-phase plasma protein that can be used as a biomarker for activation of the immune system. A spectral analysis of CRP level over time for patients with gynaecological tumours has been reported by Madondo et al., using a periodogram method, suggesting that there is no significant periodicity in the data. In our study, we investigate the impact of low sample number on periodogram analysis, for non-uniform sampling intervals-we conclude that data of Madondo et al. cannot rul...

Bilateral diaphragmatic paralysis after an unusual physical effort.

Diaphragmatic paralysis is an uncommon cause of pulmonary dysfunction and can occur after traumatic phrenic nerve injury. Penetrating and blunt trauma to the neck is the most recognized mechanism of injury being stretching of the nerves very uncommon. We report a case of a 39-year-old man with bilateral diaphragmatic paralysis due to violent stretching of the phrenic nerves. Clinical features and diagnosis methods are also reviewed.

Incomplete facial paralysis - The use of the ipsilateral residual facial nerve as a donor nerve for facial reanimation.

The reconstructive approach for incomplete facial paralysis is not yet determined. In this article we present a new surgical approach for patients with incomplete facial paralysis in which residual, ineffective movement is detected pre-operatively in the ipsilateral bucco-zygomatic territory of the paretic facial nerve.

Genetic Diversity Analysis Reveals Genetic Differentiation and Strong Population Structure in Calotropis Plants.

The genus Calotropis (Asclepiadaceae) is comprised of two species, C. gigantea and C. procera, which both show significant economic potential for use of their seed fibers in the textile industry, and of their bioactive compounds as new medicinal resources. The available wild-sourced germplasm contains limited genetic information that restricts further germplasm exploration for the purposes of domestication. We here developed twenty novel EST-SSR markers and applied them to assess genetic diversity, populati...

Prognosis of Periodic and Rhythmic Patterns in Adult and Pediatric Populations.

Although electrographic seizures are known to have an outcome on clinical prognosis, the implications of periodic and rhythmic patterns are less clear. The outcomes of adults with these patterns have been reported and are often poor; however, the outcomes in pediatric populations are less well characterized and may be different than in the adult population, as the etiologies of periodic and rhythmic patterns may differ in children and adults. In adults, generalized periodic discharges are highly associated ...

Discriminant analysis of principal components and pedigree assessment of genetic diversity and population structure in a tetraploid potato panel using SNPs.

The reported narrow genetic base of cultivated potato (Solanum tuberosum) can be expanded by the introgression of many related species with large genetic diversity. The analysis of the genetic structure of a potato population is important to broaden the genetic base of breeding programs by the identification of different genetic pools. A panel composed by 231 diverse genotypes was characterized using single nucleotide polymorphism (SNP) markers of the Illumina Infinium Potato SNP Array V2 to identify popula...

Comment on "Using Innovative Acoustic Analysis to Predict the Postoperative Outcomes of Unilateral Vocal Fold Paralysis".

Nonsurgical Treatment for Posttraumatic Complete Facial Nerve Paralysis.

Current recommendations envisage early surgical exploration for complete facial nerve paralysis associated with temporal bone fracture and unfavorable electrophysiologic features (response to electroneuronography,

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