Results 61 to 70 of about 2,752,755 (337)

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

The Diagnostic Accuracy of High Resolution Ultrasound Imaging for Detection of Secondary Hyperparathyroidism in Patients with Chronic Renal Failure [PDF]

Acta Medica Iranica, 2011
Ultrasound is one of the preferred modalities for evaluation of the parathyroid glands. This study was undertaken to determine the accuracy of high resolution ultrasound for secondary hyperparathyroidism in patients with chronic renal failure. From March
Hassan Anari, Bahman Bashardoust, Masoud Pourissa, Soheila Refahi   +3 more
doaj   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino, Marco Calabrò, Carmenrita Infortuna, Maria Rosaria Anna Muscatello, Silvana Briuglia, Nicola Cicero, Chiara Fabbri, Alessandro Serretti, Concetta Crisafulli   +8 more
wiley   +1 more source

Left parathyroid carcinoma with secondary hyperparathyroidism: a case report

BMC Endocrine Disorders, 2023
Background Parathyroid carcinoma is a rare disease with a frequency of 0.005% of all malignancies [1, 2]. Various aspects of its pathogenesis, diagnosis, and treatment remain poorly understood.
Ko Yokoyama, Nobuyasu Suganuma, Yasushi Rino   +2 more
doaj   +1 more source

Analysis of short-term blood pressure variability in pheochromocytoma/paraganglioma patients [PDF]

, 2019
Data on short-term blood pressure variability (BPV), which is a well-established cardiovascular prognostic tool, in pheochromocytoma and paraganglioma (PPGL) patients is still lack and conflicting.
Bisogni, V., Bonvicini, M., Celi, M., Ciardi, A., Concistre, A., De Toma, G., Iannucci, G., Letizia, C., Mezzadri, M., Oliviero, G., Olmati, F., Petramala, L., Saracino, V., Tonnarini, G., Torre, G. L.   +14 more
core   +1 more source

Risk factors and clinical course of hungry bone syndrome after total parathyroidectomy in dialysis patients with secondary hyperparathyroidism

BMC Nephrology, 2017
BackgroundHungry bone syndrome (HBS) is an important postoperative complication after parathyroidectomy for severe secondary hyperparathyroidism (SHPT). There is, however, little data in the literature on its detailed clinical course, and the associated ...
Lo-Yi Ho, P. Wong, H. Sin, Yuk-yi Wong, K. Lo, Shuk-fan Chan, M. Lo, K. Lo, S. Mak, A. Wong   +9 more
semanticscholar   +1 more source

Spontaneous Rupture of the Patellar and Contralateral Quadriceps Tendons Associated with Secondary Hyperparathyroidism in a Patient Receiving Long-term Dialysis

Journal of the Formosan Medical Association, 2006
Although spontaneous rupture of the extensor tendon of the knee is more likely to occur in uremic patients with secondary hyperparathyroidism, simultaneous ruptures of bilateral knee extensor tendons is a rarely reported condition.
Chiu-Ming Chen, Shyu-Jye Wang, Shing-Sheng Wu   +2 more
doaj   +1 more source

Patient level pooled analysis of 68,500 patients from seven major vitamin D fracture trials in the US and Europe [PDF]

, 2010
Objectives To identify participants’ characteristics that influence the anti-fracture efficacy of vitamin D or vitamin D plus calcium with respect to any fracture, hip fracture, and clinical vertebral fracture and to assess the influence of dosing ...
Abrahamsen, B, Anderson, F, Avenell, A, Brixen, K, Cooper, C, F, Hutchison, Francis, R M, Jackson, R, Johansen, A, LaCroix, A Z, Masud, T, Meyer, H E, Mosekilde, L, Rejnmark, L, Robbins, J A, Smith, H, The DIPART (vitamin D Individual Patient Analysis of Randomized Trials) Group, Torgerson, D, Wactawski-Wende, J   +18 more
core   +2 more sources

Repurposing Acebutolol for Osteoporosis Treatment: Insights From Multi‐Omics and Multi‐Modal Data Analysis

Clinical Pharmacology &Therapeutics, EarlyView.
Overview of a multi‐omics based drug repurposing strategy. The systematic drug repurposing strategy included the following steps: (1) osteoporosis driver signaling networks were identified from multi‐omics data; (2) drug functional modules were obtained using a network fusion approach to integrate drug similarity information; (3) all drugs were ranked ...
Dan‐Yang Liu, Hui Shen, Jonathan Greenbaum, Qiao‐Rong Yi, Shuang Liang, Yue Zhang, Jia‐Chen Liu, Chuan Qiu, Lan‐Juan Zhao, Qing Tian, Kuan‐Jui Su, Zhe Luo, Li Wu, Xiang‐He Meng, Hong‐Mei Xiao, Yun Deng, Yang Li, Dragana Lovre, Vivian Fonseca, Fernando L. Sanchez, Li‐Jun Tan, Hong‐Wen Deng   +21 more
wiley   +1 more source

Prevalence of Secondary Hyperparathyroidism in Hemo- Dialysis Patients

Proceedings
Introduction: One persistent complication of chronic kidney disease is secondary hyperparathyroidism. Early diagnosis of this disease will reduce morbidity in patients undergoing hemodialysis.
Awais Amjad, Mateen Akram, Rana Muhammad Umar, Aiman Farogh Anjum, Saba Izhar   +4 more
doaj   +1 more source