BMC PediatricsBackground Late-onset type II Bartter syndrome is an exceedingly rare condition, with only six documented cases presenting symptoms and signs beyond infancy. We report a unique case of late-onset type II Bartter syndrome with an atypical presentation and
Jhao-Jhuang Ding +3 more
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Bartter Syndrome in the Practice of a Nephrologist (Case Report)
Počki, 2015 The article describes the issues of pathogenesis, clinic and treatment of the syndrome of Bartter on the example of clinical case.
O. Taran, S. Rotova et all
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Prevention of cardiac arrhythmias in pediatric patients with normotensive-hypokalemic tubulopathy: Current attitude among European pediatricians [PDF]
, 2018 Potassium deficiency predisposes to cardiac arrhythmias culminating in syncope or sudden death. Because of the uncertainty related to the possible occurrence of such cardiac arrhythmias in the context of normotensive-hypokalemic tubulopathies, 19 ...
Bettinelli, Alberto +3 more
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The Pathogenic Triad of Chronic Cough: Postnasal Drip Syndrome, Asthma, and Gastroesophageal Reflux Disease [PDF]
, 2007 Chronic cough, lasting for 3 weeks or more, is one of the most common symptoms for which adult patients seek medical attention. The pathogenic triad of chronic cough is Postnasal Drip Syndrome (PNDS), Asthma, and Gastroesophageal Reflux Diseases (GERD ...
Rajabto, W. (Wulyo) +2 more
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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases [PDF]
, 2008 We define phosphovariants as genetic variations that change phosphorylation sites or their interacting kinases. Considering the essential role of phosphorylation in protein functions, it is highly likely that phosphovariants change protein functions and ...
Gil-Mi Ryu +4 more
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The genetics of cardiovascular disease [PDF]
, 2008 Recent advances in genotyping technology and insights into disease mechanisms have increased interest in the genetics of cardiovascular disease. Several candidate genes involved in cardiovascular diseases were identified from studies using animal models,
Abu-Amero +72 more
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Chemotherapy-induced tubulopathy: a case report series
Frontiers in NephrologyAcquired tubulopathies are frequently underdiagnosed. They can be characterized by the renal loss of specific electrolytes or organic solutes, suggesting the location of dysfunction.
Mario Alamilla-Sanchez +6 more
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Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy [PDF]
, 2016 Dysfunction of the inwardly-rectifying potassium channels Kir4.1 (KCNJ10) represents a pathogenic mechanism contributing to Autism-Epilepsy comorbidity.
Ambrosini, Elena +17 more
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Comorbid Gitelman Syndrome and Schizophrenia: A Case Report [PDF]
Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2006 In this report, a 28 year old schizophrenic patient who had Gitelman syndrome comorbidity is presented and the differential diagnosis is discussed. Gitelman syndrome is, defined as an autosomal recessive disorder featuring hypokalemic metabolic alkalosis,
Huriye Gümüş +2 more
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Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS) [PDF]
, 2017 Background. Recessive mutations in the NPHS1 gene encoding nephrin account for ∼40% of infants with congenital nephrotic syndrome (CNS). CNS is defined as steroid-resistant nephrotic syndrome (SRNS) within the first 90 days of life.
Ashraf, Shazia +16 more
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