Results 111 to 120 of about 1,394,865 (317)
Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family
Clinical Genetics, Volume 108, Issue 1, Page 102-106, July 2025.Biallelic PCSK1 loss‐of‐function mutations cause proprotein convertase 1/3 (PC1/3) deficiency, a polyendocrinopathy; a total of 36 patients were reported. The first deep intronic PCSK1 variant, (NM_000439.5):c.1196+2681T>A, was found to segregate with the disease in a consanguineous family, and is shown together with 32 reported mutations.
Leah M. Huber +6 more
wiley +1 more source
Lagged Poincaré and auto-correlation analysis of Heart rate variability in diabetes [PDF]
arXiv, 2010 The heart rate variability (HRV) in diabetic human subjects, has been analyzed using lagged Poincar\'{e} plot, auto-correlation and the detrended fluctuation analysis methods. The parameters $SD1$, and $SD12 (= SD1/SD2)$ for Poincar\'{e} plot for diabetic are lower than that for non-diabetic subjects and reverse is case for $SD2$ for all lagged number (
arxiv
Langerhans Cell Histiocytosis With MAP2K1E102_I103del Mutation Successfully Treated With Trametinib
eJHaem, Volume 6, Issue 3, June 2025.ABSTRACT The discovery of the MAPK pathway mutations in lesions of patients with Langerhans cell histiocytosis (LCH) has made targeted therapy an important therapeutic approach for these patients. Theoretically, the RAF‐independent mutation MAP2K1E102_I103del is naturally resistant to allosteric MEK inhibitors.
Min Lang, Long Chang, Xin‐xin Cao
wiley +1 more source
, 1977 During an oral glucose tolerance test (OGTT) glucose and insulin levels were measured in 26 patients with prolactin-producing pituitary tumours without growth hormone excess.
A. Renauld +24 more
core +1 more source
Journal of Magnetic Resonance Imaging, Volume 61, Issue 6, Page 2516-2522, June 2025.Background Pediatric brain cancer survivors often experience hypothalamic–pituitary dysfunction due to cranial irradiation and chemotherapy. While hormone deficiencies have been studied, the changes in pituitary size and shape on long‐term MRI and their relationship to endocrine dysfunction remain under‐explored.
Feras Qawasmi +8 more
wiley +1 more source
Journal of the Royal College of Physicians of London, 1998 P H, Baylis, T, Cheetham
openaire +4 more sources
Neurogenic diabetes insipidus presenting in a patient with subacute liver failure: a case report
Journal of Medical Case Reports, 2010 Introduction To the best of our knowledge, this is the first report in the literature of development of neurogenic diabetes insipidus in a patient with subacute liver failure.
O'Beirne James +5 more
doaj +1 more source
Veterinary Record Case Reports, Volume 13, Issue 2, June 2025.Abstract A 2‐year‐old, mixed breed dog of predominantly labrador retriever genotype and phenotype, entire male presented with a 6‐month history of urinary incontinence. The dog had a continuous urine dripping without straining. The urine bladder was small. No neurological abnormalities were found.
Jeanette M. Hanson +2 more
wiley +1 more source
Advances in Computer-Aided Diagnosis of Diabetic Retinopathy [PDF]
arXiv, 2019 Diabetic Retinopathy is a critical health problem influences 100 million individuals worldwide, and these figures are expected to rise, particularly in Asia. Diabetic Retinopathy is a chronic eye disease which can lead to irreversible vision loss. Considering the visual complexity of retinal images, the early-stage diagnosis of Diabetic Retinopathy can
arxiv