Metabolic syndrome and the risk of calcium stones [PDF]
, 2017 Sakhaee et al in this issue have investigated whether the risk of the common calcium nephrolithiasis is associated with the metabolic syndrome (MS).
Adams-Huet, Beverley +6 more
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A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia
BMC Nephrology, 2018 Background Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disease, caused by mutations in the SLC12A3 gene, which encodes the renal thiazide-sensitive Na/Cl cotransporter (NCCT) in the distal renal tubule.
Wenjun Yang +3 more
doaj +1 more source
Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review
Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio +7 more
wiley +1 more source
Balancing the demands of two tasks: an investigation of cognitive–motor dual-tasking in relapsing remitting multiple sclerosis [PDF]
, 2017 Background: People with relapsing remitting multiple sclerosis (PwRRMS) suffer disproportionate decrements in gait under dual-task conditions, when walking and a cognitive task are combined.
Butchard-MacDonald, Emma +2 more
core +2 more sources
Gitelman Syndrome Diagnosed in a Woman in the Second Trimester of Pregnancy
European Journal of Case Reports in Internal Medicine, 2019 Gitelman syndrome is a rare renal tubule disease characterized by hypokalaemia, metabolic alkalosis, hypomagnesaemia, hypocalciuria and normal blood pressure.
Sila Çetik +4 more
doaj +1 more source
Cardiac arrhythmias and rhabdomyolysis in Bartter-Gitelman patients [PDF]
, 2018 Recent data demonstrate that patients affected with hypokalemic salt-losing tubulopathies are prone to acute cardiac arrhythmias and rhabdomyolysis. The tendency to these potentially fatal complications is especially high if chronic hypokalemia is severe,
Bettinelli, Alberto +6 more
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An Anti-CD3 Antibody, Teplizumab, in Relatives at Risk for Type 1 Diabetes. [PDF]
, 2019 BackgroundType 1 diabetes is a chronic autoimmune disease that leads to destruction of insulin-producing beta cells and dependence on exogenous insulin for survival.
Bluestone, Jeffrey A +21 more
core +1 more source
Online Journal of Health & Allied Sciences, 2021 POEMS syndrome is a rare multisystem paraneoplastic disease that manifests with a spectrum of symptoms namely peripheral neuropathy (P), organomegaly (O), endocrinopathy (E) monoclonal plasma-cells proliferative disorder (M) and skin changes (S).
Cynthia Amrutha Sukumar +3 more
doaj
Electrocardiography as an early cardiac screening test in children with mitochondrial disease [PDF]
, 2010 PurposeTo evaluate myocardial conductivity to understand cardiac involvement in patients with mitochondrial disease.MethodsWe performed retrospective study on fifty-seven nonspecific mitochondrial encephalopathy patients with no clinical cardiac ...
Ran Baik +5 more
core +1 more source
Hypokalemic paralysis due to primary hyperaldosteronism simulating gitelman′s syndrome
Saudi Journal of Kidney Diseases and Transplantation, 2009 Some diseases, such as Gitelman′s syndrome, Bartter′s syndrome, and primary hyperaldosteronism (Conn′s syndrome), may bear some similar clinical and laboratory findings.
Kasifoglu Timucin +3 more
doaj