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11:25 EST 15th December 2018 | BioPortfolio

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

Thyrotoxic hypokalemic periodic paralysis.

Increased promoter activity as a mechanism in atypical normokalemic periodic paralysis.

To identify the genetic basis of a patient with symptoms of normokalemic sporadic periodic paralysis (PP) and to study the effect of mutations.

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.

Hypokalaemic periodic paralysis is a rare genetic neuromuscular disease characterized by episodes of skeletal muscle paralysis associated with low serum potassium. Muscle fibre inexcitability during attacks of paralysis is due to an aberrant depolarizing leak current through mutant voltage sensing domains of either the sarcolemmal voltage-gated calcium or sodium channel. We report a child with hypokalaemic periodic paralysis and CNS involvement, including seizures, but without mutations in the known periodi...

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.

Skeletal Muscle Channelopathies.

Skeletal muscle channelopathies are rare heterogeneous diseases with marked genotypic and phenotypic variability. These disorders cause lifetime disability and impact quality of life. Despite advances in understanding of the molecular pathology of these disorders, the diverse phenotypic manifestations remain a challenge in diagnosis, therapeutic, genetic counseling, and research planning. Electrodiagnostic testing is useful in directing the diagnosis, but has several limitations: patient discomfort, time co...

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.

Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients.

Hyperkalemic periodic paralysis (hyperKPP) is a muscle channelopathy characterized by recurrent paralytic attacks. Our previous study, in which we conducted whole-body muscle magnetic resonance imaging (MRI) in patients with hyperKPP, revealed muscle atrophy and fatty change in the lower extremity, especially in older persons. The aim of current study was to identify the progression of myopathy in hyperKPP patients had been assessed in the previous study. We performed lower-extremity muscle MRI in seven hyp...

Clinical evaluation of vocal fold paralysis in 207 children.

To investigate the etiology and clinical characteristics of vocal fold paralysis in children. To provide useful information for diagnosis, management and prognosis in the clinical work. Two hundred and seven children with vocal fold paralysis in Children's Hospital of Fudan University were retrospectively studied, and followed-up. All the patients had hoarseness.151 cases had vocal paralysis in the left side and the main etiology was pulmonary arterial hypertension.43 cases had bilateral vocal paralysis a...

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...

On the dynamics of brucellosis infection in bison population with vertical transmission and culling.

We introduce a new mathematical modeling framework that seek to improve our quantitative understanding of the influence of chronic brucellosis and culling control on brucellosis dynamics in periodic and non-periodic environments. We conduct both epidemic and endemic analysis, with a focus on the threshold dynamics characterized by the basic reproduction numbers. In addition, we also perform an optimal control study to explore optimal culling strategy in periodic and non-periodic environment.

Correlation analysis of motor function improvement and brain structure for upper limb paralysis.

Intervention with combined low-frequency repetitive transcranial magnetic stimulation and intensive occupational therapy can improve brain function in poststroke patients with motor paralysis. We aimed to evaluate the relationship between brain structure at the time of intervention and the degree of motor function improvement using this combination therapy. Twenty-five patients with upper limb paralysis after stroke were hospitalized for 15 days to receive 12 sessions of low-frequency repetitive transcrania...

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...

Study of Weak Periodic Signals in the EEG Signals and Their Relationship with Postsynaptic Potentials.

In this paper, weak periodic signals detected in the EEG signals were analysed for each region of the brain and its relationships with postsynaptic potentials were investigated. For this, EEG signals were collected from 16 different channels according to the international standard channel 10/20 system in the scalp of two patients, one epileptic and one non-epileptic. In our recent work, we have detected weak periodic signals in the EEG signals using Duffing oscillator system. In this paper, we have used a c...

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...

Facial Nerve Paralysis.

Patients afflicted with facial paralysis suffer significant physical and psychosocial effects that can lead to depression and social isolation. Timely diagnosis and initiation of appropriate therapy are keys to achieving good outcomes in the management of facial paralysis. Eye protection is of paramount importance to prevent vision loss in patients with impaired eye closure. Patients should be assessed for signs of depression and treated appropriately.

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...

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...

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.

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...

PCA-based GRS analysis enhances the effectiveness for genetic correlation detection.

Genetic risk score (GRS, also known as polygenic risk score) analysis is an increasingly popular method for exploring genetic architectures and relationships of complex diseases. However, complex diseases are usually measured by multiple correlated phenotypes. Analyzing each disease phenotype.

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 ...

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