Results 21 to 30 of about 762 (149)

A case of paraplegia due to limb girdle muscular dystrophy with coexisting gitelman’s syndrome

Asian Journal of Medical Sciences, 2016
Muscular dystrophies are a rare group of disorders affecting the skeletal muscles, which are progressive, hereditary and degenerative. A sudden worsening of the condition should raise the possibility of hypokalemia, followed by its evaluation and ...
Robin George Manappallil
doaj   +1 more source

Hyperemesis Gravidarum in Undiagnosed Gitelman’s Syndrome

Case Reports in Medicine, 2016
Introduction. Gitelman’s syndrome (GS) is an autosomal recessive inherited defect in the thiazide-sensitive sodium-chloride cotransporter (NCCT) in the renal distal convoluted tubule.
Maria Czarina Acelajado, R. Michael Culpepper, Wilburn D. Bolton III   +2 more
doaj   +1 more source

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10 [PDF]

, 2016
EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney.
Abdelhadi, O, Bockenhauer, D, Iancu, D, Kleta, R, Stanescu, H   +4 more
core   +1 more source

Concurrence of thyrotoxicosis and Gitelman’s syndrome-associated hypokalemia-induced periodic paralysis

Pediatric Reports, 2012
A 16-year-old Japanese boy with a history of truancy had been treated at a psychiatric clinic. When the patient was referred to us for hypokalemia-associated paralysis, the diagnosis of thyrotoxic hypokalemic periodic paralysis was made, common in Asian ...
Shinsaku Imashuku, Tomoko Teramura-Ikeda, Naoko Kudo, Shigehiro Kaneda, Toshihiro Tajima   +4 more
doaj   +1 more source

Erythrocytosis in a Patient with Type 1 Diabetes Mellitus and Concomitant Gitelman’s Syndrome

Endocrinology Research and Practice, 2016
Gitelman’s syndrome (GS) is characterized by hypokalemia, hypomagnesaemia, hypocalciuria, metabolic alkalosis, and neurological symptoms. The association of GS with type 1 diabetes is rare, described only in a few case reports.
Müge Keskin, Müge Özcan, Ünsal Aydın, Cavit Çulha, Gönül Koç, Yalçın Aral, Neşe Ersöz Gülçelik   +6 more
doaj   +1 more source

Towards precision medicine for hypertension: a review of genomic, epigenomic, and microbiomic effects on blood pressure in experimental rat models and humans [PDF]

, 2017
Compelling evidence for the inherited nature of essential hypertension has led to extensive research in rats and humans. Rats have served as the primary model for research on the genetics of hypertension resulting in identification of genomic regions ...
Allbutt TC, Bina Joe, Biron P, Biron P, Bright R, Cook HW, Dublin LI, Dublin LI, Dupont J, Esunge PM, Felts JH, Garrod AE, Garrod AE, Garrod AE, Hamilton M, Hamilton M, Hamilton M, Joe B, Koffler M, Korner PI, Kuijpers MH, Lee YH, Lewis O, Markel’ AL, Matsukawa N, Mo R, Ohno Y, Pickering GW, Pravenec M, Sandosh Padmanabhan, Schlager G, Shear CL, Shiozawa M, Smolarek I, Zhang Y   +34 more
core   +1 more source

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies [PDF]

, 2018
Inherited retinal diseases (IRD) are a heterogeneous group of diseases that mainly affect the retina; more than 250 genes have been linked to the disease and more than 20 different clinical phenotypes have been described.
Anasagasti, Ander, Barandika, Olatz, Ezquerra-Inchausti, Maitane, Galdós, Marta, Garai-Aramburu, Gonzaga, Irigoyen, Cristina, López de Munain Arregui, Adolfo José, Ruiz-Ederra, Javier   +7 more
core   +4 more sources

Arg913Gln variation of SLC12A3 gene is associated with diabetic nephropathy in type 2 diabetes and Gitelman syndrome: a systematic review

BMC Nephrology, 2019
Background Diabetic nephropathy is a global common cause of chronic kidney disease and end-stage renal disease. A lot of research has been conducted in biomedical sciences, which has enhanced understanding of the pathophysiology of diabetic nephropathy ...
Eduardo De la Cruz-Cano, Cristina del C. Jiménez-González, Vicente Morales-García, Conny Pineda-Pérez, Juan G. Tejas-Juárez, Francisco J. Rendón-Gandarilla, Silvia Jiménez-Morales, José A. Díaz-Gandarilla   +7 more
doaj   +1 more source

A Case Study of Pseudo-Neuropathic Pseudogout [PDF]

, 2013
Background This interesting case highlights the clinical progression of a rare disease process and the important role of a multi-disciplinary team in achieving a diagnosis and successful management plan.
Karanjia, DPM, Homyar N., Lindenmeyer, MD, Christina Cress, Mandel, MD, Steven, Nazarian, MD, Levon N, Raikin, MD, Steven M., Sobel, MD, Adam C.   +5 more
core   +2 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source