Results 71 to 80 of about 725 (179)
Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report
Nephrology, Volume 30, Issue 9, September 2025.ABSTRACT Gitelman syndrome (GS) is considered one of the most common hereditary renal tubular disorders, characterised by hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. The primary cause of this disorder resides in the SLC12A3 gene, which encodes the NaCl cotransporter in the distal convoluted tubule, and for which more than 500 ...
Patricia Tomás‐Simó +5 more
wiley +1 more source
Resequencing the whole MYH7 gene (including the intronic, promoter, and 3´ UTR sequences) in hypertrophic cardiomyopathy [PDF]
, 2012 MYH7 mutations are found in approximately 20% of hypertrophic cardiomyopathy (HCM) patients. Currently, mutational analysis is based on the sequencing of the coding exons and a few exon-flanking intronic nucleotides resulting in omission of single exon ...
Alonso, Belén +13 more
core
Clinical Case Reports, Volume 13, Issue 8, August 2025.ABSTRACT This case highlights an unusual presentation of Bartter Syndrome Type 3 marked by hypocalciuria and opisthotonus posture. Recognizing such atypical neuromuscular signs is essential for early diagnosis, genetic confirmation, and targeted management in pediatric patients with electrolyte imbalances.
Karim Hassan +5 more
wiley +1 more source
Criminal Behavior in Frontotemporal Dementia: A Multimodal MRI Study
Human Brain Mapping, Volume 46, Issue 11, 01 August 2025.Comparing patients with and without criminal behavior in frontotemporal dementia, structural brain alterations were found using various voxel‐, vertex‐, and region‐based approaches in the left temporal lobe (circular arranged). Criminal behavior was also associated with functional brain dysconnectivity between regions within the left temporal lobe and ...
Karsten Mueller +10 more
wiley +1 more source
Type 1 diabetes presenting in adults: Trends, diagnostic challenges and unique features
Diabetes, Obesity and Metabolism, Volume 27, Issue S6, Page 57-68, August 2025.Abstract Type 1 diabetes (T1D) has been historically regarded as a childhood‐onset disease; however, recent epidemiological data indicate that adult‐onset T1D accounts for a substantial proportion of cases worldwide. There is evidence that adult‐onset T1D is associated with the classic T1D triad of elevated genetic risk, the presence of islet‐specific ...
Carmella Evans‐Molina, Richard A. Oram
wiley +1 more source
A case of Gitelman's syndrome.
Nihon Naika Gakkai Zasshi, 1999 症例は20歳,女性.咽頭痛,発熱を主訴に受診した際,偶発的に著明な低K血症を指摘され,精査目的で入院した.経過中に下痢,嘔吐,口渇,多飲,多尿,テタニー,筋力低下等の症状を認めなかった.代謝性アルカローシスを伴う低K及び低Mg血症を認め尿中Ca/Cr(mol)比等からGitelman症候群と診断した.成人に認められる慢性の低K血症の診断に際しては, Gitelman症候群を念頭に置く必要があると考えた.
K, Kadomatsu +5 more
openaire +3 more sources
Arthritis &Rheumatology, Volume 77, Issue 5, Page 506-520, May 2025.Clinical tools that can aid in the diagnostic differentiation of juvenile dermatomyositis from muscular dystrophy.
Jacqueline A. Madison +9 more
wiley +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
Molekulargenetische Studien bei Patienten mit Gitelman-Syndrom [PDF]
, 2017 Das Gitelman-Syndrom wurde vor ungefähr 50 Jahren erstbeschrieben und ist eine laborchemisch durch hypokaliämische Alkalose, Hypokalziurie und Hypomagnesiämie charakterisierte renale Salzverlusterkrankung, die sich meist im Jugend- oder ...
Swoboda, Maximilian
core +1 more source