Symptoma

EAST Syndrome

SeSAME Syndrome

Presentation early in life due to seizures provides an opportunity to investigate the development of the electrolyte defect with age. [ncbi.nlm.nih.gov]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Here, we present a 20-year-old male child from India presenting with childhood-onset, recurrent generalized seizures, which were poorly controlled with multiple antiepileptics. [ijcpjournal.org]

  • Aspiration

    MERS cases have been reported to have low white blood cell count, and in particular low lymphocytes.For PCR testing, the WHO recommends obtaining samples from the lower respiratory tract via bronchoalveolar lavage (BAL), sputum sample or tracheal aspirate [en.wikipedia.org]

    Suspected cases were tested for MERS-CoV with real-time polymerase chain reaction (RT-PCR), using the recommended sampling technique (nasopharyngeal swab and tracheal aspirates or bronchoalveolar lavage in intubated patients). [annals.org]

  • Myokymia

    Schnabel, A HomozygousKCNJ10Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both, Journal of Veterinary Internal Medicine, 2014, 28, 3, 871 Wiley Online Library 7 Chuan Tian, Ruixin Zhu, Lixin [onlinelibrary.wiley.com]

  • Slurred Speech

    Common symptoms of Ataxia are lack of coordination, slurred speech, trouble eating and swallowing, eye movement abnormalities, deterioration of fine motor skills, difficulty walking, gait abnormalities, tremors, and heart problems. [ataxia.org]

  • Hypercapnia

    Xu H, Cui N, Yang Z, Qu Z, Jiang C (2000) Modulation of kir4.1 and kir5.1 by hypercapnia and intracellular acidosis. J Physiol 524 Pt 3:725–735 PubMed CrossRef Google Scholar 94. [doi.org]

Some treatments include medications, surgery, therapies, or a ketogenic diet. Researchers are also looking to develop a new treatment, a pacemaker for epilepsy. [en.wikipedia.org]

PROGNOSIS  recurrent infections, is the cause of death in at least 27%.  rare cases have survived up to the age of 18 years. 18. [slideshare.net]

Variants exist with only partial features, and prognosis is mainly linked to the severity of the neurological symptoms. [diapedia.org]

Etiology The disease is caused by homozygous or compound heterozygous mutations in the KCNJ10 gene, encoding a potassium channel expressed in the brain, spinal cord, inner ear and kidneys. Genetic counseling Transmission is autosomal recessive. [orpha.net]

An association with abnormal facies, mental retardation, bilateral lenticular cataracts, extensive intracranial calcifications, and manifestation of the disease from early childhood suggests a congenital or hereditary etiology. [ijcpjournal.org]

The authors also present the “triple E syndrome,” describing the possible etiologies of this injury: epilepsy (or any convulsive seizure), electrocution, or extreme trauma. Received December 9, 1999. Accepted January 30, 2001. [neurology.org]

2015 News Epidemiological update: Middle East respiratory syndrome coronavirus (MERS-CoV), 21 July 2015 epidemiological update - 21 Jul 2015 News Epidemiological update: Middle East respiratory syndrome coronavirus (MERS-CoV) epidemiological update - [ecdc.europa.eu]

Summary Epidemiology It has been described in five patients from four families. [orpha.net]

These guidances specify that any patient with an epidemiologic risk and severe ore miler respiratory illness should be considered as a patient under investigation for MERS-CoV. [academic.oup.com]

Since then, sporadic cases, as well as cases caused by transmission in the families, and major outbreaks within healthcare settings, have been described or epidemiologically linked to the Arabian Peninsula. [news-medical.net]

This review on EAST syndrome outlines the molecular aspects of the physiology and pathophysiology of KCNJ10 in the distal convoluted tubule. [ncbi.nlm.nih.gov]

Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices. [books.google.com]

[…] first published online 7 February 2011) Related content Articles related to the one you are viewing Citing Literature Number of times cited : 17 1 Ola Abdelhadi, Daniela Iancu, Horia Stanescu, Robert Kleta, Detlef Bockenhauer, EAST syndrome: Clinical, pathophysiological [onlinelibrary.wiley.com]

Investigation of EAST syndrome reveals the role of KCNJ10 in human physiology and pathophysiology. Where applicable, experiments conform with Society ethical requirements [physoc.org]

Prevention : There is no vaccine for MERS so prevention is critical. [phc.amedd.army.mil]

The ALA focuses on improving lung health and preventing lung disease, through research, education and advocacy. Middle East respiratory syndrome (MERS) by Canada.ca helps you find Government of Canada information and services. [microbes.info]

More Control and Prevention Provides interim guidance developed by OSHA to help prevent worker exposure to MERS-CoV and persons with the disease. More Additional Resources Provides links and references to additional resources related to MERS-CoV. [osha.gov]

EAST syndrome is an autosomal recessive disorder; therefore, it cannot necessarily be prevented. [en.wikipedia.org]

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