2,631 results match your criteria Periodic Paralyses


A Rare Case of Thyrotoxic Periodic Paralysis After Epidural Steroid Injection: A Case Report and Literature Review.

Am J Case Rep 2018 Dec 8;19:1453-1458. Epub 2018 Dec 8.

Department of Internal Medicine, Piedmont Athens Regional Medical Center, Athens, GA, USA.

BACKGROUND Thyrotoxic periodic paralysis (TPP) is a rare cause of acute paralysis, which if not promptly recognized and treated, can lead to significant morbidity and mortality. TPP can be precipitated by several factors, including a high carbohydrate diet and exercise. This report is of a rare case of TPP after epidural steroid injection in a young man, with a review of the literature of previous cases. Read More

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http://dx.doi.org/10.12659/AJCR.911270DOI Listing
December 2018

Short-term Response to Phenytoin Sodium in Andersen-Tawil Syndrome-1 with a Cardiac-Dominant Phenotype.

Pacing Clin Electrophysiol 2018 Dec 5. Epub 2018 Dec 5.

Department of Medical Genetics, Kasturba Medical College, Manipal, Karnataka, India.

Background: Andersen Tawil Syndrome (ATS) is a rare familial periodic paralysis that typically also affects the heart and skeletal system. Ventricular arrhythmias (VA) are profound, difficult to control but minimally symptomatic. In this report we describe an atypical phenotype of ATS in 2 related families. Read More

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http://dx.doi.org/10.1111/pace.13569DOI Listing
December 2018
2 Reads

Can flecainide totally eliminate bidirectional ventricular tachycardia in pediatric patients with Andersen-Tawil syndrome?

Turk Kardiyol Dern Ars 2018 12;46(8):718-722

Department of Pediatric Cardiology and Arrhythmia, Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, İstanbul, Turkey.

Andersen-Tawil syndrome (ATS) is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm, and developmental abnormalities. QT prolongation and ventricular arrhythmias, including bidirectional ventricular tachycardia (VT) and polymorphic VT, may occur. About 60% of all cases of the disorder arecaused by mutations in the KCNJ2 gene. Read More

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December 2018

Pharmaco-invasive Therapy with Fibrinolytic Agents: A Potent Lifesaving Reperfusion Strategy in STEMI Patients in Metro Tier-I Cities in India.

J Assoc Physicians India 2018 May;66(5):76-81

Abbott Health Care Pvt. Ltd., Mumbai, Maharashtra.

Background: Primary Sjogren's Syndrome (pSS) with Hypokalemic Periodic Paralysis(HPP) whether an association or a different clinical subset needs review.

Aim: To generate a consensus on the importance of pharmaco-invasive therapy for STEMI patients when primary PCI cannot be expeditiously performed in metro and tier-I cities in India.

Methodology: A total of 8 expert panel groups comprising 48 experts from Cardiology specialty in India were convened. Read More

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May 2018
4 Reads

Clinical Profile of Primary Sjogrens Syndrome with Hypokalemic Periodic Paralysis.

J Assoc Physicians India 2018 May;66(5):69-70

Chief and Consultant Rheumatologist, Center for Rheumatic Diseases, Pune, Maharashtra.

Introduction: Primary Sjogren's Syndrome (pSS) with Hypokalemic Periodic Paralysis(HPP) whether an association or a different clinical subset needs review.

Methods: Cross-sectional retrospective study of subjects of Primary Sjogren's Syndrome with Hypokalemic Periodic Paralysis(HPP) identified from database maintained at Centre For Rheumatic Diseases, Pune since 1996 with records of over 50000 patients. The diagnosis was clinical. Read More

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May 2018
13 Reads

Periodic paralysis with normokalemia in a patient with hyperthyroidism: A case report.

Medicine (Baltimore) 2018 Nov;97(46):e13256

Department of Emergency Medicine, Kaohsiung Medical University Hospital.

Rationale: Thyrotoxic periodic paralysis is characterized by a sudden onset of hypokalemia and paralysis. This condition mainly affects the lower extremities and is secondary to thyrotoxicosis. The underlying hyperthyroidism is often subtle without typical symptoms such as palpitations, tremors, anxiety, and weight loss; this causes a difficulty in early diagnosis. Read More

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http://dx.doi.org/10.1097/MD.0000000000013256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6257648PMC
November 2018
9 Reads

Thyrotoxic periodic paralysis complicated by life-threatening acute hypercapnic respiratory failure in a Chinese male with painless thyroiditis.

Am J Emerg Med 2018 Nov 7. Epub 2018 Nov 7.

Department of Endocrinology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, Wenzhou 325027, China. Electronic address:

Context: Thyrotoxic periodic paralysis (TPP) is a relatively common complication seen in Asian hyperthyroid patients. However, it is a rare occurrence to find a TPP case comprised of acute hypercapnic respiratory failure in patients with painless thyroiditis.

Patient: A 29-year-old Chinese man presented with flaccid paralysis of all four limbs and he was brought to emergency room. Read More

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http://dx.doi.org/10.1016/j.ajem.2018.11.010DOI Listing
November 2018
1 Read

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

Brain 2018 Dec;141(12):3308-3318

MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.

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 periodic paralysis genes. Read More

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awy283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262219PMC
December 2018
3 Reads

A204E mutation in Na1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.

Sci Rep 2018 Nov 12;8(1):16681. Epub 2018 Nov 12.

Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière (ICM), F-75013, Paris, France.

Periodic paralyses (PP) are characterized by episodic muscle weakness and are classified into the distinct hyperkalaemic (hyperPP) and hypokalaemic (hypoPP) forms. The dominantly-inherited form of hyperPP is caused by overactivity of Na1.4 - the skeletal muscle voltage-gated sodium channel. Read More

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http://www.nature.com/articles/s41598-018-34750-8
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http://dx.doi.org/10.1038/s41598-018-34750-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232142PMC
November 2018
6 Reads

Renal Tubular Acidosis and Hypokalemic Paralysis as a First Presentation of Primary Sjögren's Syndrome.

Case Rep Nephrol 2018 16;2018:9847826. Epub 2018 Oct 16.

Pulmonology and Critical Care Unit, Department of Medicine, Chitwan Medical College, Bharatpur, Chitwan, Nepal.

Sjögren's syndrome is an autoimmune disease with multisystem involvement and varying clinical presentation. We report the clinical course and outcome of a case who presented with repeated episodes of hypokalemia mimicking hypokalemic periodic paralysis and metabolic acidosis, which was later diagnosed as distal renal tubular acidosis secondary to primary Sjögren's syndrome. A 50-year-old lady, who was previously diagnosed as hypokalemic periodic paralysis, presented with generalized weakness and fatigue. Read More

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http://dx.doi.org/10.1155/2018/9847826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6206514PMC
October 2018
6 Reads

Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review.

BMC Endocr Disord 2018 Nov 8;18(1):82. Epub 2018 Nov 8.

The Department of Endocrinology, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China.

Background: Gitelman syndrome (GS) is an inherited autosomal recessive renal tubular disorder characterized by low levels of potassium and magnesium in the blood, decreased excretion of calcium in the urine, and elevated blood pH. GS is caused by an inactivating mutation in the SLC12A3 gene, which is located on the long arm of chromosome 16 (16q13) and encodes a thiazide-sensitive sodium chloride cotransporter (NCCT).

Case Presentation: A 45-year-old man with Graves' disease complicated by paroxysmal limb paralysis had a diagnosis of thyrotoxic periodic paralysis for 12 years. Read More

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http://dx.doi.org/10.1186/s12902-018-0298-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6225570PMC
November 2018
1 Read

Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.

Neurotherapeutics 2018 Oct;15(4):885-899

Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.

Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common class of congenital myopathies. Historically, RYR1-RM classification and diagnosis have been guided by histopathologic findings on muscle biopsy. Main histological subtypes of RYR1-RM include central core disease, multiminicore disease, core-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion. Read More

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http://link.springer.com/10.1007/s13311-018-00677-1
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http://dx.doi.org/10.1007/s13311-018-00677-1DOI Listing
October 2018
3 Reads

[A case of hyperkalemic periodic paralysis presenting progressive myopathy with tubular aggregates].

Rinsho Shinkeigaku 2018 Nov 27;58(11):663-667. Epub 2018 Oct 27.

Department of Neurology, Osaka City General Hospital.

A 33-year-old man admitted to our hospital for the evaluation of progressive muscular atrophy of his left lower leg. From his childhood, he had suffered from transient attacks of limb paralysis and myalgia lasting about 1 hour. At age 30, the muscle weakness and atrophy of his left lower leg emerged and progressed gradually. Read More

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http://dx.doi.org/10.5692/clinicalneurol.cn-001137DOI Listing
November 2018
1 Read

Micro-planning for immunization in Kaduna State, Nigeria: Lessons learnt, 2017.

Vaccine 2018 Nov 23;36(48):7361-7368. Epub 2018 Oct 23.

Kaduna State Primary Health Care Agency, Kaduna, Nigeria.

Background: The OPV 3 coverage for Kaduna State, 12-23 months old children was 34.4%. The low OPV 3 coverage, due mainly to weak demand for routine antigens and the need to rapidly boost population immunity against the disabling Wild Polio Virus (WPV), led the Global Polio Eradication Initiatives (GPEI) to increase supplemental OPV campaigns in Kaduna State, despite the huge cost and great burden on personnel. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0264410X183138
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http://dx.doi.org/10.1016/j.vaccine.2018.10.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238078PMC
November 2018
10 Reads

Skeletal Muscle Channelopathies.

Neurotherapeutics 2018 Oct;15(4):954-965

Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas, 75390, USA.

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. Read More

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http://dx.doi.org/10.1007/s13311-018-00678-0DOI Listing
October 2018

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

Neurol Genet 2018 Oct 3;4(5):e274. Epub 2018 Oct 3.

Center for Undiagnosed and Rare Diseases (ZusE) (M.S., T.M., B.K., J.R.S.); Department of Cardiology (V.R.) and Department of Neurology (R.D.), University Hospital Giessen and Marburg; Vegetative Physiology (S.R., N.D.), Philipps-University Marburg, Institute of Physiology and Pathophysiology, & Marburg Center for Mind, Brain and Behavior, Marburg, Germany; Institute for Algebra (G.P.), Johannes Kepler University Linz; and Department of Gastroenterology (A.M.), Hospital Elisabethinen, Linz, Austria.

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

Methods: A candidate gene approach was used to identify causative gene mutations, using Sanger sequencing. promoter activity was analyzed in transfected HEK293 cells with a luciferase assay, and functional analysis of Kir2. Read More

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186026PMC
October 2018
6 Reads

Thyrotoxic hypokalemic periodic paralysis: a life-threatening disorder in Asian men.

Trop Doct 2018 Oct 10:49475518803251. Epub 2018 Oct 10.

2 Professor, Department of Internal Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Thyrotoxicosis can present as a sporadic form of hypokalaemic periodic paralysis. The condition is associated with massive intracellular shift of potassium, mainly in skeletal muscles. As the total body stores of potassium remain normal, overzealous potassium supplementation targeting serum potassium level results in a poor outcome. Read More

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http://dx.doi.org/10.1177/0049475518803251DOI Listing
October 2018
4 Reads

[Analysis of clinical phenotypes and KCNJ2 gene mutations in a Chinese pedigree affected with Andersen-Tawil syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Oct;35(5):675-678

Department of Pediatrics, Beijing Jishuitan Hospital, Beijing 100035, China.

Objective: To analyze the clinical phenotypes of a pedigree affected with periodic paralysis and explore its molecular basis.

Methods: Clinical data and peripheral blood samples of the pedigree were collected. The proband and his father both complained of periodic paralysis and dysmorphic features. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.05.012DOI Listing
October 2018

The study of exercise tests in paroxysmal kinesigenic dyskinesia.

Clin Neurophysiol 2018 Nov 15;129(11):2435-2441. Epub 2018 Sep 15.

Department of Neurology & Institute of Neurology, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address:

Objective: To unravel if there was muscular ion channel dysfunction in paroxysmal kinesigenic dyskinesia (PKD) patients using the exercises tests (ET).

Methods: Sixty PKD patients including 28 PRRT2 mutations carriers were enrolled in this study, as well as 19 hypokalaemic periodic paralysis (HypoPP) patients as the positive controls and 45 healthy subjects as the negative controls. ET including long exercise test (LET) and short exercise test (SET) was performed in the corresponding subjects. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S13882457183122
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http://dx.doi.org/10.1016/j.clinph.2018.09.004DOI Listing
November 2018
2 Reads
3.100 Impact Factor

Spectrum of Hypokalemic Paralysis from a Tertiary Care Center in India.

Indian J Nephrol 2018 Sep-Oct;28(5):365-369

Institute of Nephrology, Madras Medical College, The Tamilnadu Dr MGR Medical University, Chennai, Tamil Nadu, India.

Hypokalemic paralysis is an important and reversible cause of acute flaccid paralysis. The treating physician faces unique diagnostic and therapeutic challenges. We did a prospective study and included all patients with acute flaccid weakness and documented serum potassium of <3. Read More

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http://dx.doi.org/10.4103/ijn.IJN_225_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146732PMC
October 2018
2 Reads

Secondary hypokalemic periodic paralysis as a rare clinical presentation of Conn syndrome.

Clin Neurophysiol 2018 Nov 15;129(11):2505-2506. Epub 2018 Sep 15.

Institute of Neurology, Catholic University of the Sacred Heart, Fondazione Policlinico A. Gemelli, Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S13882457183122
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http://dx.doi.org/10.1016/j.clinph.2018.09.003DOI Listing
November 2018
18 Reads
3.097 Impact Factor

Hypokalemic thyrotoxic periodic paralysis. Report of one case.

Med Clin (Barc) 2018 Sep 17. Epub 2018 Sep 17.

Departamento de Medicina Interna, Hospital Corporació Parc Taulí, Sabadell, Barcelona, España.

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https://linkinghub.elsevier.com/retrieve/pii/S00257753183050
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http://dx.doi.org/10.1016/j.medcli.2018.07.008DOI Listing
September 2018
6 Reads

Thyrotoxic periodic paralysis: case report and review of the literature.

Electron Physician 2018 Aug 25;10(8):7174-7179. Epub 2018 Aug 25.

MD., Assistant Professor, Department of Internal Medicine, University of Mississippi Medical Center, Jackson, USA.

Introduction: Thyrotoxic periodic paralysis (TPP) is a rare and potentially lethal complication of hyperthyroidism. It is characterized by sudden onset paralysis associated with hypokalemia. Management includes prompt normalization of potassium, which results in resolution of the paralysis. Read More

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http://dx.doi.org/10.19082/7174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122872PMC
August 2018
2 Reads

Lift Then Shift: Thyrotoxic Periodic Paralysis.

Am J Med 2018 Sep 7. Epub 2018 Sep 7.

Department of Medicine, University of California, San Francisco, School of Medicine, San Francisco; Medical Service, Veterans Affairs Medical Center, San Francisco, Calif.

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http://dx.doi.org/10.1016/j.amjmed.2018.08.015DOI Listing
September 2018

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

Neuromuscul Disord 2018 Oct 30;28(10):837-845. Epub 2018 Jun 30.

Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea.

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. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.06.008DOI Listing
October 2018
4 Reads

Unilateral renal artery stenosis presenting as acute flaccid paralysis: a rare presentation.

BMJ Case Rep 2018 Aug 31;2018. Epub 2018 Aug 31.

Department of Endocrinology and Medicine Unit 5, Pt. B.D.Sharma PGIMS, Rohtak, Haryana, India.

Renovascular hypertension is one of the common causes of secondary hypertension. Here we report a case of patient of renal artery stenosis presenting to the emergency department as a case of acute flaccid paralysis. Renal artery stenosis has been associated with hypokalaemia, but rarely reported to be symptomatic. Read More

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http://dx.doi.org/10.1136/bcr-2018-225889DOI Listing
August 2018
3 Reads

Thyrotoxic hypokalemic periodic paralysis.

QJM 2018 Dec;111(12):887-889

Department of Internal Medicine, Hospital Marqués de Valdecilla-IDIVAL, University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1093/qjmed/hcy186DOI Listing
December 2018

Thyrotoxic Periodic Paralysis and Cardiomyopathy in a Patient with Graves' Disease.

Cureus 2018 Jun 19;10(6):e2837. Epub 2018 Jun 19.

Critical Care, Maimonides Medical Center, Brooklyn, USA.

Thyrotoxic periodic paralysis (TPP) and cardiomyopathy are two established complications of thyrotoxicosis. Emergent management is essential as TPP and cardiac events secondary to thyrotoxic cardiomyopathy can be fatal. We report a unique case of a patient with Graves' disease presenting with symptoms secondary to both these complications. Read More

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http://dx.doi.org/10.7759/cureus.2837DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6101465PMC
June 2018
3 Reads

Bitter experience with liquorice sweetening agent resulting in apparent mineralocorticoid excess with periodic paralysis.

BMJ Case Rep 2018 Aug 10;2018. Epub 2018 Aug 10.

Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, Tamil Nadu, India.

Chronic liquorice ingestion is a rare cause of secondary hypertension and hypokalaemia with periodic paralysis. We report the case of a middle-aged Indian man who presented with hypertension and hypokalaemic alkalosis with recurrent bouts of periodic paralysis. Biochemical investigations revealed suppressed plasma renin and aldosterone concentrations with normal cortisol concentration. Read More

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http://dx.doi.org/10.1136/bcr-2018-225686DOI Listing
August 2018
1 Read

Etiological Search and Epidemiological Profile in Patients Presenting with Hypokalemic Paresis: An Observational Study.

Indian J Endocrinol Metab 2018 May-Jun;22(3):397-404

Department of Medicine, Midnapore Medical College and Hospital, Medinipur, West Bengal, India.

Introduction: Hypokalemia is associated with increased morbidity and at times mortality. "Hypokalemic paralysis", particularly if recurrent, has often been considered synonymous with "hypokalemic periodic paralysis (HPP)"; however, diseases such as Gitelman syndrome (GS), Bartter syndrome (BS), and renal tubular acidosis (RTA) can have identical presentation. We have tried to explore the etiological spectrum along with epidemiological and certain clinical, biochemical, and electrophysiological features in patients with hypokalemic paralysis. Read More

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http://dx.doi.org/10.4103/ijem.IJEM_633_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063177PMC

Phenotypical Variation with Same Genetic Mutation in Familial Hypokalemic Periodic Paralysis.

J Pediatr Neurosci 2018 Apr-Jun;13(2):218-220

Royal College of Pediatrics and Child Health, London, United Kingdom.

Hypokalemic periodic paralysis is a genetic neuromuscular disorder characterized by episodes of painless muscle paralysis associated with low serum potassium, exclusively, during the attack. This may be precipitated by heavy exercise, fasting, or high-carbohydrate meals. We report two siblings, presenting at different ages with varying symptomatology-older sibling with episodic weakness in the morning associated with reduced physical exercise and consumption of large carbohydrate meal, whereas younger sibling complained of muscle stiffness following large carbohydrate meal and at the end of physical exercise. Read More

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http://dx.doi.org/10.4103/jpn.JPN_44_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057184PMC
August 2018
1 Read

Looking for periodic paralysis: Optimizing the long exercise test.

Muscle Nerve 2018 Aug 2. Epub 2018 Aug 2.

Neurological Institute, University Hospitals Cleveland Medical Center, 11100 Euclid Avenue, Cleveland, Ohio, 44106-5098, USA.

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http://dx.doi.org/10.1002/mus.26314DOI Listing

Prolonged attacks of weakness with hypokalemia in SCN4A-related paramyotonia congenita.

Muscle Nerve 2018 Oct 3;58(4):E27-E28. Epub 2018 Sep 3.

Departments of Neurology OLVG, OLVG West, Jan Tooropstraat 164, 1061 AE, Amsterdam and Zaans Medisch Centrum, Zaandam, the Netherlands.

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http://dx.doi.org/10.1002/mus.26190DOI Listing
October 2018
2 Reads

Na1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers.

Sci Rep 2018 Jul 10;8(1):10372. Epub 2018 Jul 10.

Department of Neuroanesthesiology, Clinic for Neurosurgery, Ulm University, Guenzburg, Germany.

Hypokalemic periodic paralysis is a skeletal muscle disease characterized by episodic weakness associated with low serum potassium. We compared clinical and biophysical effects of R222W, the first hNa1.4 domain I mutation linked to this disease. Read More

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http://dx.doi.org/10.1038/s41598-018-28594-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039468PMC

Graves' Disease Presenting with Periodic Paralysis to the Emergency Department.

Case Rep Endocrinol 2018 7;2018:9763452. Epub 2018 Jun 7.

Fiona Stanley Hospital, 11 Robin Warren Drive, Murdoch, 6150, Western Australia, Australia.

Thyrotoxic periodic paralysis is an infrequent manifestation of hyperthyroidism and an uncommon cause of muscle weakness in western countries. The diagnosis should be considered in the differential when a patient presents with transient and recurrent weakness associated with hypokalaemia. We present a case of a 26-year-old Asian male presenting with sudden onset muscle weakness affecting predominantly his lower limbs on a background of weight loss. Read More

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http://dx.doi.org/10.1155/2018/9763452DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011162PMC
June 2018
18 Reads

An atypical presentation of high potassium renal secretion rate in a patient with thyrotoxic periodic paralysis: a case report.

BMC Nephrol 2018 Jul 4;19(1):160. Epub 2018 Jul 4.

Division of Nephrology, Department of Internal Medicine, Shin-Kong Wu Ho-Su Memorial Hospital, 95, Wen-Chang Rd, Shih-Lin, Taipei, 111, Taiwan (R.O.C.).

Background: Hypokalemia is one of the most common clinical electrolyte imbalance problems, and thyrotoxic periodic paralysis (TPP) is a leading cause of presentation to the emergency department. Low renal potassium secretion rates, a normal acid-base balance in the blood, and hyperthyroidism are the hallmarks of suspected TPP.

Case Presentation: Here we report the case of a 36-year-old man who presented to the emergency department with a sudden onset of acute muscle weakness at 5 h prior to admission. Read More

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http://dx.doi.org/10.1186/s12882-018-0971-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031107PMC
July 2018
7 Reads

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in Na1.4.

Sci Rep 2018 Jun 26;8(1):9714. Epub 2018 Jun 26.

MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 3BG, UK.

Dominantly inherited channelopathies of the skeletal muscle voltage-gated sodium channel Na1.4 include hypokalaemic and hyperkalaemic periodic paralysis (hypoPP and hyperPP) and myotonia. HyperPP and myotonia are caused by Na1. Read More

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http://www.nature.com/articles/s41598-018-27822-2
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http://dx.doi.org/10.1038/s41598-018-27822-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018793PMC
June 2018
9 Reads

Familial Normokalemic Periodic Paralysis Associated With Mutation in the p.M1592V.

Front Neurol 2018 7;9:430. Epub 2018 Jun 7.

Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun, China.

Periodic paralysis (PP) is an uncommon inherited disorder causing recurrent episodes of muscle weakness, with an incidence of 0.001%. Normokalemic periodic paralysis (NormoKPP) as the rarest subtype of PP contains both familial and sporadic. Read More

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http://dx.doi.org/10.3389/fneur.2018.00430DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5999725PMC
June 2018
1 Read

Thyrotoxic Hypokalemic Periodic Paralysis.

Indian J Crit Care Med 2018 May;22(5):378-380

Department of Medicine, KGMU, Lucknow, Uttar Pradesh, India.

Hypokalemia is a serious and life-threatening clinical condition. We present a case of a 45-year-old male, with known hyperthyroidism presenting with profound tremor, irritability, quadriparesis, and labored breathing since morning, on the day of admission. Arterial blood gas analysis showed severe hypokalemia. Read More

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http://dx.doi.org/10.4103/ijccm.IJCCM_369_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5971652PMC

Successful treatment of normokalemic periodic paralysis with hydrochlorothiazide.

Brain Dev 2018 Oct 12;40(9):833-836. Epub 2018 Jun 12.

Department of Pediatrics, Abashiri Kosei General Hospital, Abashiri, Japan.

Background: Periodic paralysis (PP) is an autosomal dominant muscle disorder characterized by periodic muscle weakness attacks associated with serum potassium level variations. It is classified into hypokalemic (hypoKPP), hyperkalemic (hyperKPP), and normokalemic (normoKPP) forms based on the ictal serum potassium level. HyperKPP and normoKPP are caused by mutations of the same gene SCN4A, the gene encoding the skeletal muscle voltage-gated sodium channel. Read More

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http://dx.doi.org/10.1016/j.braindev.2018.05.011DOI Listing
October 2018

[Hypokalemic periodic paralysis: a pedigree with eight cases].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Jun;35(3):455

Department of Neonatology, the First Hospital of Jilin University, Changchun, Jilin 130021 China.

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.03.036DOI Listing

Does thyrotoxic periodic paralysis have a genetic predisposition? A case report.

Ann Clin Biochem 2018 Nov 20;55(6):713-716. Epub 2018 Jul 20.

1 Department of Clinical Chemistry, Tallaght University Hospital, Tallaght, Dublin, Ireland.

Thyrotoxic periodic paralysis is a rare complication of hyperthyroidism where increased influx of potassium into skeletal muscle cells leads to profound hypokalaemia and paralysis. Most cases arise sporadically in Asians; however, it is being increasingly reported in Caucasians. It is regarded as a channelopathy where a genetic and/or acquired defect in the sodium-potassium (Na/K-ATPase) pump renders it more sensitive to excess thyroid hormone in susceptible individuals. Read More

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http://dx.doi.org/10.1177/0004563218785395DOI Listing
November 2018
27 Reads

Managing Bipolar Affective Disorder in a Tribal District of Odisha.

Indian J Psychol Med 2018 May-Jun;40(3):210-212

Department of Psychiatry, Christian Medical College, Vellore, Tamil Nadu, India.

Background: Managing any chronic illness in marginalized communities in resource-poor settings is always a challenge. Lack of facility to monitor lithium and the common morbidity of hypokalemic periodic paralysis and chronic renal failure among tribals of northern part of Odisha pose unique challenges in managing bipolar disorder.

Methodology: This is a cross-sectional study done in a district-level hospital catering to predominantly tribal population. Read More

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http://dx.doi.org/10.4103/IJPSYM.IJPSYM_477_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5968640PMC
June 2018
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Changing Management Guidelines in Thyrotoxic Hypokalemic Periodic Paralysis.

J Emerg Med 2018 08 2;55(2):252-256. Epub 2018 Jun 2.

Department of Emergency Medicine, University of California, San Diego, San Diego, California.

Background: Periodic paralysis is a rare complication of hyperthyroidism. Patients of East Asian descent are most commonly affected. Presentation is characterized by recurrent episodes of painless, abrupt-onset weakness, with laboratory evaluation characterized by profound hypokalemia. Read More

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http://dx.doi.org/10.1016/j.jemermed.2018.04.063DOI Listing
August 2018
2 Reads

Hyperkalaemic periodic paralysis in pregnancy.

BMJ Case Rep 2018 Jun 4;2018. Epub 2018 Jun 4.

Department of Obstetrics and Gynaecology, Sarikei Hospital, Sarikei, Sarawak, Malaysia.

Hyperkalaemic periodic paralysis is a rare skeletal muscle disorder which is characterised by episodic muscle paralysis associated with hyperkalaemia. Although it is an autosomal-dominant disease, cases of de novo mutations have been reported. We report the case of a 30-year-old woman, gravida 5 para 3+1, who was planned for an elective repeated caesarean section at 38 weeks and 3 days of pregnancy. Read More

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http://dx.doi.org/10.1136/bcr-2017-223588DOI Listing
June 2018
12 Reads

Bilateral Lower Extremity Paralysis in a Caucasian Male Presenting to the Emergency Department.

Case Rep Emerg Med 2018 15;2018:5740509. Epub 2018 May 15.

Little Rock Diagnostic Clinic, USA.

Reported is a case of a 39-year-old Caucasian man who presented to the emergency department with sudden onset bilateral lower extremity paralysis after consuming a large amount of carbohydrates and alcohol. A CT, MRI, and lumbar puncture were performed with negative results; lab results showed hyperthyroidism and hypokalemia. The patient was diagnosed with thyrotoxic periodic paralysis. Read More

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http://dx.doi.org/10.1155/2018/5740509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976972PMC

[Clinical observation on the treatment of intractable otomastoiditis with reconstruction of external auditory canal wall].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2017 Aug;31(16):1238-1242

Department of Otolaryngology Head and Neck Surgery, Beijing Friendship Hospital Affiliated to Capital Medical University, Beijing, 100050, China.

To observe the clinical effect on the treatment of intractable tympanitis with reconstruction of external auditory canal wall.Five cases underwent radical removel of residual lesion and reconsruction of external auditory posterior canal wall using hydroxyapatite ceramic wall with transferred pedicle temporalis fascia covering on it were analyzed. The implement of ossicular chain reconstruction depends on the probing for tympanic cavity intraoperatively. Read More

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http://dx.doi.org/10.13201/j.issn.1001-1781.2017.16.005DOI Listing
August 2017
2 Reads